From 2ece7a37c44a2439945fbd9a2c2dd236308d5399 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 8 Dec 2023 16:42:59 +0200 Subject: [PATCH 1/2] Update the GARD subset in Mondo --- src/ontology/mondo-edit.obo | 26736 ++++++++++++++++++++++++++++++---- 1 file changed, 23566 insertions(+), 3170 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 1c93b2ca3a..2e863855d8 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -214,7 +214,6 @@ is_a: MONDO:0001703 {source="https://orcid.org/0000-0001-5208-3432"} ! color vis id: MONDO:0000015 name: classic complement early component deficiency def: "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." [https://orcid.org/0000-0001-5208-3432, PMID:22773339] -subset: gard_rare {source="GARD:0009526"} synonym: "genetic deficiency of early component of the classical complement pathway" EXACT [https://orcid.org/0000-0001-5208-3432] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:363009005 {source="MONDO:equivalentTo"} @@ -275,10 +274,12 @@ is_a: MONDO:0024290 {source="NCIT:C118172"} ! enuresis id: MONDO:0000023 name: infantile liver failure comment: OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). +subset: gard_rare {source="GARD:17820"} synonym: "fever-associated acute infantile liver failure syndrome" EXACT [Orphanet:464724] synonym: "infantile liver failure syndrome" EXACT [OMIMPS:615438] synonym: "liver failure, infantile" EXACT [OMIMPS:615438] xref: DOID:0080716 {source="MONDO:equivalentTo"} +xref: GARD:17820 {source="Orphanet:464724"} xref: OMIMPS:615438 {source="MONDO:equivalentTo"} xref: Orphanet:464724 {source="MONDO:equivalentTo"} xref: UMLS:CN228161 {source="MONDO:equivalentTo"} @@ -418,9 +419,10 @@ id: MONDO:0000044 name: hereditary hypophosphatemic rickets def: "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." [Orphanet:437] subset: disease_grouping -subset: gard_rare {source="GARD:0006735"} +subset: gard_rare {source="GARD:6735"} subset: ordo_group_of_disorders {source="Orphanet:437"} synonym: "hereditary hypophosphatemic rickets" EXACT [MONDO:patterns/hereditary] +xref: GARD:6735 {source="Orphanet:437"} xref: ICD10CM:E83.3 {source="Orphanet:437/inclusion", source="Orphanet:437/ntbt", source="MONDO:relatedTo", source="Orphanet:437"} xref: MedDRA:10060873 {source="Orphanet:437", source="Orphanet:437/e"} xref: OMIMPS:193100 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -473,6 +475,7 @@ consider: MONDO:0021094 [Term] id: MONDO:0000050 name: isolated congenital growth hormone deficiency +subset: gard_rare {source="GARD:12556"} subset: ordo_disease {source="Orphanet:631"} synonym: "congenital IGHD" EXACT [DOID:0060870, Orphanet:631] synonym: "congenital isolated GH deficiency" EXACT [DOID:0060870, Orphanet:631] @@ -483,6 +486,7 @@ synonym: "IGHD" EXACT ABBREVIATION [DOID:0060870] synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400] synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870] xref: DOID:0060870 {source="MONDO:equivalentTo"} +xref: GARD:12556 {source="Orphanet:631"} xref: ICD10CM:E23.0 {source="Orphanet:631", source="DOID:0060870", source="Orphanet:631/ntbt", source="Orphanet:631/inclusion"} xref: MedDRA:10035083 {source="Orphanet:631", source="Orphanet:631/e"} xref: OMIMPS:262400 {source="MONDO:equivalentTo"} @@ -743,8 +747,10 @@ id: MONDO:0000087 name: polymicrogyria def: "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." [NCIT:C116936] subset: disease_grouping +subset: gard_rare {source="GARD:18818"} subset: ordo_group_of_disorders {source="Orphanet:35981"} xref: DOID:0080918 {source="MONDO:equivalentTo"} +xref: GARD:18818 {source="Orphanet:35981"} xref: ICD10CM:Q04.3 {source="Orphanet:35981/inclusion", source="Orphanet:35981/ntbt", source="Orphanet:35981"} xref: MESH:D065706 {source="MONDO:equivalentTo"} xref: NCIT:C116936 {source="MONDO:equivalentTo"} @@ -760,12 +766,13 @@ id: MONDO:0000088 name: precocious puberty def: "Unusually early sexual maturity." [NCIT:C79704] subset: disease_grouping -subset: gard_rare {source="GARD:0007446"} +subset: gard_rare {source="GARD:7446"} subset: ordo_group_of_disorders {source="Orphanet:95708"} synonym: "familial precocious puberty" NARROW [GARD:0007446] synonym: "idiopathic sexual precocity" NARROW [GARD:0007446] synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/] synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/] +xref: GARD:7446 {source="Orphanet:95708"} xref: HP:0000826 xref: ICD10CM:E22.8 {source="Orphanet:95708/nd", source="Orphanet:95708"} xref: ICD10CM:E30.1 {source="Orphanet:95708/nd", source="MONDO:equivalentTo", source="Orphanet:95708"} @@ -906,6 +913,7 @@ is_obsolete: true id: MONDO:0000107 name: auriculocondylar syndrome def: "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." [Orphanet:137888] +subset: gard_rare {source="GARD:9798"} subset: ordo_malformation_syndrome {source="Orphanet:137888"} synonym: "auriculo-condylar syndrome" EXACT [MONDO:cjm] synonym: "dysgnathia complex" RELATED [MONDO:cjm] @@ -913,6 +921,7 @@ synonym: "ears prominent and constricted" RELATED [GARD:0009798] synonym: "question mark ear" RELATED [GARD:0009798] synonym: "question mark ear syndrome" EXACT [Orphanet:137888] synonym: "question-mark ear syndrome" RELATED [MONDO:cjm] +xref: GARD:9798 {source="Orphanet:137888"} xref: ICD10CM:Q75.8 {source="Orphanet:137888/attributed", source="Orphanet:137888/ntbt", source="Orphanet:137888"} xref: MESH:C538270 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"} xref: OMIMPS:602483 {source="MONDO:equivalentTo"} @@ -943,7 +952,9 @@ replaced_by: MONDO:0000720 id: MONDO:0000110 name: bifid nose def: "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." [Orphanet:2695] +subset: gard_rare {source="GARD:884"} subset: ordo_malformation_syndrome {source="Orphanet:2695"} +xref: GARD:884 {source="Orphanet:2695"} xref: ICD10CM:Q30.2 {source="Orphanet:2695/attributed", source="Orphanet:2695/ntbt", source="Orphanet:2695"} xref: MESH:C535441 {source="Orphanet:2695", source="MONDO:equivalentTo", source="Orphanet:2695/e"} xref: Orphanet:2695 {source="MONDO:equivalentTo"} @@ -1064,10 +1075,12 @@ replaced_by: MONDO:0001056 id: MONDO:0000127 name: geleophysic dysplasia def: "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." [Orphanet:2623] +subset: gard_rare {source="GARD:2449"} subset: ordo_malformation_syndrome {source="Orphanet:2623"} synonym: "geleophysic dwarfism" EXACT [Orphanet:2623] synonym: "geleophysic dwarfism syndrome" RELATED [MONDO:cjm] xref: DOID:0111724 {source="MONDO:equivalentTo"} +xref: GARD:2449 {source="Orphanet:2623"} xref: ICD10CM:Q87.1 {source="Orphanet:2623", source="Orphanet:2623/attributed", source="Orphanet:2623/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063361 {source="Orphanet:2623", source="Orphanet:2623/e"} @@ -1134,12 +1147,14 @@ is_obsolete: true id: MONDO:0000133 name: immunodeficiency-centromeric instability-facial anomalies syndrome def: "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." [Orphanet:2268] +subset: gard_rare {source="GARD:2945"} subset: ordo_malformation_syndrome {source="Orphanet:2268"} synonym: "CIID" RELATED ABBREVIATION [GARD:0002945] synonym: "ICF syndrome" RELATED [DOID:0090007] synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIMPS:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268] xref: DOID:0090007 {source="MONDO:equivalentTo"} +xref: GARD:2945 {source="Orphanet:2268"} xref: ICD10CM:D84.8 {source="Orphanet:2268/attributed", source="Orphanet:2268/ntbt", source="Orphanet:2268", source="DOID:0090007"} xref: MESH:C537362 {source="MONDO:equivalentTo"} xref: OMIMPS:242860 {source="MONDO:equivalentTo", source="DOID:0090007"} @@ -1168,9 +1183,11 @@ id: MONDO:0000136 name: keratosis follicularis spinulosa decalvans def: "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." [Orphanet:2340] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:6829"} subset: ordo_disease {source="Orphanet:2340"} synonym: "keratosis pilaris decalvans" EXACT [MONDO:cjm] xref: DOID:0080753 {source="MONDO:equivalentTo"} +xref: GARD:6829 {source="Orphanet:2340"} xref: ICD10CM:Q82.8 {source="Orphanet:2340/attributed", source="Orphanet:2340/ntbt", source="Orphanet:2340"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536159 {source="Orphanet:2340/e", source="Orphanet:2340"} @@ -1218,11 +1235,13 @@ replaced_by: MONDO:0016558 id: MONDO:0000141 name: mosaic variegated aneuploidy syndrome def: "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." [Orphanet:1052] +subset: gard_rare {source="GARD:3007"} subset: ordo_malformation_syndrome {source="Orphanet:1052"} synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192] synonym: "MVA1" EXACT ABBREVIATION [NCIT:C128192] synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052] xref: DOID:0080688 {source="MONDO:equivalentTo"} +xref: GARD:3007 {source="Orphanet:1052"} xref: ICD10CM:Q99.8 {source="Orphanet:1052/attributed", source="Orphanet:1052/ntbt", source="Orphanet:1052"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"} @@ -1320,6 +1339,7 @@ id: MONDO:0000153 name: transposition of the great arteries def: "A congenital cardiac defect in which two heart vessels are reversed (transposed)." [NCIT:C84742] subset: disease_grouping +subset: gard_rare {source="GARD:7795"} subset: ordo_group_of_disorders {source="Orphanet:216675"} synonym: "complete transposition" EXACT [Orphanet:216675] synonym: "great vessels transposition" EXACT [NCIT:C84742] @@ -1327,6 +1347,7 @@ synonym: "TGA" EXACT ABBREVIATION [Orphanet:216675] synonym: "TGV" EXACT ABBREVIATION [Orphanet:216675] synonym: "transposition of great vessels" EXACT [NCIT:C84742] synonym: "transposition of the great vessels" EXACT [Orphanet:216675] +xref: GARD:7795 {source="Orphanet:216675"} xref: ICD10CM:Q20.3 {source="Orphanet:216675/btnt", source="Orphanet:216675"} xref: ICD10CM:Q20.5 {source="Orphanet:216675/btnt", source="Orphanet:216675"} xref: MESH:D014188 {source="MONDO:equivalentTo"} @@ -1480,7 +1501,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:156850"} ! inheri id: MONDO:0000170 name: microphthalmia, isolated, with coloboma def: "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." [Orphanet:98938] -subset: gard_rare +subset: gard_rare {source="GARD:3644"} subset: ordo_malformation_syndrome {source="Orphanet:98938"} synonym: "colobomatous microphthalmia" EXACT [MONDO:0010303] synonym: "MAC" EXACT ABBREVIATION [Orphanet:98938] @@ -1489,6 +1510,7 @@ synonym: "microphthalmia associated with colobomatous cyst" RELATED [GARD:000364 synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938] synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938] synonym: "microphthalmos bilateral, colobomatous orbital cyst" RELATED [GARD:0003644, MESH:C537463] +xref: GARD:3644 {source="Orphanet:98938"} xref: ICD10CM:Q11.2 {source="Orphanet:98938", source="Orphanet:98938/attributed", source="Orphanet:98938/ntbt"} xref: MESH:C537463 {source="MONDO:equivalentTo"} xref: OMIMPS:300345 {source="MONDO:equivalentTo"} @@ -1507,6 +1529,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3644/microph [Term] id: MONDO:0000171 name: muscular dystrophy-dystroglycanopathy, type A +subset: gard_rare {source="GARD:2599"} subset: ordo_disease {source="Orphanet:899"} synonym: "cerebroocular dysgenesis" RELATED [GARD:0002599] synonym: "cerebroocular dysplasia muscular dystrophy syndrome" RELATED [GARD:0002599] @@ -1522,6 +1545,7 @@ synonym: "Walker-Warburg syndrome" EXACT [MONDO:0019523] synonym: "Warburg syndrome" RELATED [GARD:0002599] synonym: "WWS" EXACT ABBREVIATION [Orphanet:899] xref: DOID:0050560 {source="MONDO:equivalentTo"} +xref: GARD:2599 {source="Orphanet:899"} xref: ICD10CM:Q04.3 {source="Orphanet:899/attributed", source="Orphanet:899/ntbt", source="Orphanet:899"} xref: MESH:D058494 {source="Orphanet:899", source="MONDO:equivalentTo", source="Orphanet:899/e"} xref: NCIT:C99109 {source="MONDO:equivalentTo"} @@ -1590,11 +1614,12 @@ is_obsolete: true id: MONDO:0000179 name: Neu-Laxova syndrome def: "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." [Orphanet:2671] -subset: gard_rare +subset: gard_rare {source="GARD:102"} subset: ordo_malformation_syndrome {source="Orphanet:2671"} synonym: "Neu Laxova syndrome" RELATED [GARD:0000102] synonym: "NLS" RELATED ABBREVIATION [GARD:0000102] synonym: "nuclear localization signal" EXACT [NCIT:C14089] +xref: GARD:102 {source="Orphanet:2671"} xref: ICD10CM:Q87.8 {source="Orphanet:2671/attributed", source="Orphanet:2671/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536405 {source="MONDO:equivalentTo", source="Orphanet:2671/e"} @@ -1724,7 +1749,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615895"} ! inheri id: MONDO:0000193 name: cortisone reductase deficiency def: "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." [PMID:21325058] -subset: gard_rare {source="GARD:0009882"} +subset: gard_rare {source="GARD:9882"} subset: ordo_malformation_syndrome {source="Orphanet:168588"} synonym: "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" RELATED [GARD:0009882] synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588] @@ -1734,6 +1759,7 @@ synonym: "deficiency of cortisone reductase" EXACT [MONDO:cjm] synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882] synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [] xref: DOID:0090139 {source="MONDO:equivalentTo"} +xref: GARD:9882 {source="Orphanet:168588"} xref: ICD10CM:E25.8 {source="Orphanet:168588/attributed", source="Orphanet:168588/ntbt", source="Orphanet:168588"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536447 {source="MONDO:equivalentTo"} @@ -1789,6 +1815,7 @@ replaced_by: MONDO:0021055 id: MONDO:0000200 name: Zimmermann-Laband syndrome def: "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." [Orphanet:3473] +subset: gard_rare {source="GARD:385"} subset: ordo_malformation_syndrome {source="Orphanet:3473"} subset: prototype_pattern synonym: "fibromatosis gingival, hepatosplenomegaly other anomalies" RELATED [GARD:0000385] @@ -1801,6 +1828,7 @@ synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical, OMIM:135500] synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500] synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385] synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500] +xref: GARD:385 {source="Orphanet:3473"} xref: ICD10CM:Q87.8 {source="Orphanet:3473/attributed", source="Orphanet:3473/ntbt", source="Orphanet:3473"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536725 {source="MONDO:equivalentTo"} @@ -1859,10 +1887,12 @@ replaced_by: MONDO:0014176 [Term] id: MONDO:0000208 name: microcephaly, short stature, and impaired glucose metabolism 1 +subset: gard_rare {source="GARD:18459"} synonym: "microcephaly, short stature, and impaired glucose metabolism" RELATED [MONDO:Lexical, OMIM:616033] synonym: "microcephaly, short stature, and impaired glucose metabolism 1" EXACT CLINGEN_PREFERRED [OMIM:616033] synonym: "MSSGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616033] synonym: "MSSGM1" EXACT ABBREVIATION [OMIM:616033] +xref: GARD:18459 {source="OMIM:616033"} xref: OMIM:616033 {source="MONDO:equivalentTo"} xref: Orphanet:391408 {source="OMIM:616033"} xref: UMLS:C4014997 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:616033"} @@ -1873,9 +1903,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0000209 name: prenatal-onset spinal muscular atrophy with congenital bone fractures +subset: gard_rare {source="GARD:17882"} subset: ordo_disease synonym: "SMABF" EXACT ABBREVIATION [Orphanet:486811] synonym: "spinal muscular atrophy with congenital bone fractures" EXACT [] +xref: GARD:17882 {source="Orphanet:486811"} xref: OMIMPS:616866 {source="MONDO:equivalentTo"} xref: Orphanet:486811 {source="MONDO:equivalentTo"} xref: UMLS:CN238807 {source="MONDO:equivalentTo"} @@ -1896,8 +1928,10 @@ id: MONDO:0000211 name: striatal degeneration, autosomal dominant def: "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." [Orphanet:228169] comment: See genetic heterogeneity of OMIM 609161 smb. +subset: gard_rare {source="GARD:17146"} synonym: "ADSD" EXACT ABBREVIATION [Orphanet:228169] synonym: "autosomal dominant striatal neurodegeneration" EXACT [Orphanet:228169] +xref: GARD:17146 {source="Orphanet:228169"} xref: MESH:C563783 {source="MONDO:equivalentTo"} xref: OMIMPS:609161 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:228169 {source="MONDO:equivalentTo"} @@ -1909,6 +1943,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609161"} ! inheri id: MONDO:0000212 name: hypercalcemia, infantile def: "A hypercalcemia disease that occurs between 28 days to one year of life." [MONDO:design_pattern] +subset: gard_rare {source="GARD:17374"} subset: ordo_disease {source="Orphanet:300547"} subset: prototype_pattern synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern] @@ -1922,6 +1957,7 @@ synonym: "idiopathic infantile hypercalcemia" EXACT DEPRECATED [NCIT:C129734] synonym: "infantile hypercalcemia" EXACT [MONDO:cjm] synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern] synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] +xref: GARD:17374 {source="Orphanet:300547"} xref: ICD10CM:E83.5 {source="Orphanet:300547", source="Orphanet:300547/attributed", source="Orphanet:300547/ntbt"} xref: MESH:C562999 {source="MONDO:equivalentTo"} xref: NCIT:C129734 {source="MONDO:equivalentTo"} @@ -2036,7 +2072,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate me id: MONDO:0000225 name: human monocytic ehrlichiosis def: "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." [Wikipedia:Human_monocytotropic_ehrlichiosis] -subset: gard_rare {source="GARD:0000072"} synonym: "ehrlichiosis chafeensis" RELATED [DOID:0050026] synonym: "HME" RELATED ABBREVIATION [GARD:0000072] synonym: "Human ehrlichial infection, human monocytic type" RELATED [GARD:0000072] @@ -2241,7 +2276,6 @@ id: MONDO:0000241 name: Keshan disease def: "A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus." [Wikipedia:Keshan_disease] comment: The etiological mechanism of KD remains largely unclear, selenium and Coxsackie virus infection have been suggested to be highly involved in the pathogenesis of KD [PMID:33634251]. -subset: gard_rare {source="GARD:0008761"} synonym: "caused by deficiency of selenium in the diet" RELATED EXCLUDE [GARD:0008761] synonym: "congestive cardiomyopathy due to selenium deficiency" RELATED [MONDO:cjm] synonym: "enlarged heart and poor heart function" RELATED [GARD:0008761] @@ -2827,7 +2861,6 @@ relationship: disease_has_infectious_agent NCBITaxon:5763 {source="MONDO:Wikidat id: MONDO:0000291 name: granulomatous amebic encephalitis def: "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." [https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis] -subset: gard_rare {source="GARD:0012651"} synonym: "Acanthamoeba encephalitis" RELATED [DOID:0050246] synonym: "Acanthamoeba granulomatous encephalitis" RELATED [DOID:0050246] synonym: "granulomatous amebic encephalitis due to Acanthamoeba" RELATED [DOID:0050246] @@ -3292,6 +3325,7 @@ replaced_by: MONDO:0019362 id: MONDO:0000330 name: endemic typhus def: "A bacterial infection caused by Rickettsia typhi." [https://www.cdc.gov/typhus/murine/index.html, Wikipedia:Murine_typhus] +subset: gard_rare {source="GARD:19033"} subset: ordo_disease {source="Orphanet:83315"} synonym: "cat flea rickettsiosis" EXACT [DOID:0050481] synonym: "endemic flea-borne typhus" EXACT [NCIT:C84688] @@ -3305,6 +3339,7 @@ synonym: "toulon typhus" EXACT [DOID:0050481] synonym: "urban typhus" EXACT [DOID:0050481] synonym: "urban typhus of Malaya" EXACT [DOID:0050481] xref: DOID:0050481 {source="MONDO:equivalentTo"} +xref: GARD:19033 {source="Orphanet:83315"} xref: ICD10CM:A75.2 {source="Orphanet:83315", source="Orphanet:83315/e"} xref: MedDRA:10028282 {source="Orphanet:83315", source="Orphanet:83315/e"} xref: MESH:D014437 {source="MONDO:equivalentTo"} @@ -3336,7 +3371,6 @@ relationship: transmitted_by NCBITaxon:6944 {source="https://wwwnc.cdc.gov/trave id: MONDO:0000332 name: sennetsu fever def: "A disease caused by infection with Neorickettsia sennetsu." [MONDO:patterns/infectious_disease_by_agent] -subset: gard_rare {source="GARD:0000120"} synonym: "Human Ehrlichial infection, sennetsu type" RELATED [GARD:0000120, MESH:C537582] synonym: "Neorickettsia sennetsu caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Neorickettsia sennetsu disease or disorder" EXACT [] @@ -3630,7 +3664,7 @@ replaced_by: MONDO:0017959 id: MONDO:0000355 name: Ullrich congenital muscular dystrophy def: "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." [Orphanet:75840] -subset: gard_rare +subset: gard_rare {source="GARD:4769"} subset: ordo_disease {source="Orphanet:75840"} synonym: "congenital muscular dystrophy, Ullrich type" RELATED [Orphanet:75840] synonym: "late onset scleroatonic familial myopathy (subtype)" RELATED [GARD:0004769] @@ -3640,6 +3674,7 @@ synonym: "UCMD" EXACT ABBREVIATION [GARD:0004769, Orphanet:75840] synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/] synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558] xref: DOID:0050558 {source="MONDO:equivalentTo"} +xref: GARD:4769 {source="Orphanet:75840"} xref: ICD10CM:G71.2 {source="Orphanet:75840/attributed", source="Orphanet:75840/ntbt", source="Orphanet:75840"} xref: MESH:C537521 {source="MONDO:equivalentTo"} xref: NCIT:C123438 {source="MONDO:equivalentTo"} @@ -4391,7 +4426,6 @@ intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant id: MONDO:0000408 name: fetal alcohol spectrum disorder def: "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." [NCIT:C92780] -subset: gard_rare synonym: "alcohol related birth defects" RELATED [MESH:D063647] synonym: "alcohol related neurodevelopmental disorder" RELATED [MESH:D063647] synonym: "alcohol-related birth defects" RELATED [MESH:D063647] @@ -4670,7 +4704,6 @@ is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0000430 name: mature T-cell and NK-cell non-Hodgkin lymphoma def: "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." [NCIT:C3468] -subset: gard_rare {source="GARD:0007368"} synonym: "mature T-and NK-cell lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell and natural killer cell lymphoma" RELATED [DOID:0050743] synonym: "mature T-cell and NK-cell lymphoma" EXACT [NCIT:C3468] @@ -4768,6 +4801,7 @@ name: cerebellar ataxia def: "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." [https://bestpractice.bmj.com/topics/en-gb/1097] comment: In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare subset: disease_grouping +subset: gard_rare {source="GARD:19816"} subset: mondo_rare {source="https://bestpractice.bmj.com/topics/en-gb/1097"} subset: ordo_group_of_disorders {source="Orphanet:102002"} synonym: "ataxia" RELATED AMBIGUOUS [] @@ -4781,6 +4815,7 @@ synonym: "rare ataxia" RELATED [Orphanet:102002] synonym: "spinocerebellar ataxia" NARROW [] synonym: "spinocerebellar Degeneration" EXACT [NCIT:C82341] xref: DOID:0050753 {source="MONDO:equivalentTo"} +xref: GARD:19816 {source="Orphanet:102002"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002524 {source="MONDO:equivalentTo"} xref: NCIT:C82341 {source="MONDO:equivalentTo"} @@ -4858,6 +4893,7 @@ is_a: MONDO:0005516 {source="DOID:0050767"} ! osteochondrodysplasia id: MONDO:0000447 name: autosomal dominant polycystic liver disease def: "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." [GARD:0009457] +subset: gard_rare {source="GARD:9457"} synonym: "AD polycystic liver disease" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "ADPLD" EXACT ABBREVIATION [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "congenital cystic liver disease" RELATED [DOID:0050770] @@ -4868,6 +4904,7 @@ synonym: "isolated polycystic liver disease" EXACT [Orphanet:2924] synonym: "PCLD" EXACT ABBREVIATION [GARD:0009457] synonym: "polycystic liver disease" EXACT [MONDO:ambiguous] xref: DOID:0050770 {source="MONDO:equivalentTo"} +xref: GARD:9457 {source="Orphanet:2924"} xref: HP:0006557 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q44.6 {source="MONDO:equivalentTo"} xref: ICD9:751.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -4980,12 +5017,14 @@ is_a: MONDO:0005284 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic p id: MONDO:0000453 name: short QT syndrome def: "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" [Wikipedia:Short_QT_syndrome] +subset: gard_rare {source="GARD:16650"} subset: ordo_disease {source="Orphanet:51083"} subset: prototype_pattern synonym: "familial short QT syndrome" RELATED [Orphanet:51083] synonym: "short QT syndrome" EXACT CLINGEN_PREFERRED [] synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060] xref: DOID:0050793 {source="MONDO:equivalentTo"} +xref: GARD:16650 {source="Orphanet:51083"} xref: ICD10CM:I49.8 {source="Orphanet:51083", source="Orphanet:51083/attributed", source="Orphanet:51083/ntbt"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580439 {source="MONDO:equivalentTo"} @@ -5007,12 +5046,14 @@ replaced_by: MONDO:0017923 id: MONDO:0000455 name: cone dystrophy def: "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [http://en.wikipedia.org/wiki/Cone_dystrophy] +subset: gard_rare {source="GARD:11897"} subset: ordo_disease {source="Orphanet:1871"} synonym: "cone dystrophy" EXACT [Orphanet:1871] synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871] synonym: "retinal cone dystrophy" RELATED [DOID:0050795] synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/] xref: DOID:0050795 {source="MONDO:equivalentTo"} +xref: GARD:11897 {source="Orphanet:1871"} xref: ICD10CM:H35.5 {source="Orphanet:1871", source="Orphanet:1871/attributed", source="Orphanet:1871/ntbt"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000077765 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -5029,12 +5070,14 @@ id: MONDO:0000456 name: cerebral creatine deficiency syndrome def: "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." [Orphanet:79172] subset: disease_grouping +subset: gard_rare {source="GARD:18952"} subset: ordo_group_of_disorders {source="Orphanet:79172"} synonym: "CCDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "CDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172] synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221] xref: DOID:0050798 {source="MONDO:equivalentTo"} +xref: GARD:18952 {source="Orphanet:79172"} xref: ICD10CM:E72.8 {source="Orphanet:79172", source="Orphanet:79172/attributed", source="Orphanet:79172/ntbt"} xref: OMIMPS:300352 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79172 {source="MONDO:equivalentTo"} @@ -5129,7 +5172,7 @@ intersection_of: disease_has_location UBERON:0035639 ! ocular adnexa id: MONDO:0000463 name: Ochoa syndrome def: "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." [Orphanet:2704] -subset: gard_rare +subset: gard_rare {source="GARD:104"} subset: ordo_malformation_syndrome {source="Orphanet:2704"} synonym: "hydronephrosis with peculiar facial expression" EXACT [DOID:0050816] synonym: "hydronephrosis-inverted smile syndrome" EXACT [Orphanet:2704] @@ -5141,6 +5184,7 @@ synonym: "UFS" RELATED ABBREVIATION [GARD:0000104] synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104] synonym: "urofacial syndrome" EXACT [Orphanet:2704] xref: DOID:0050816 {source="MONDO:equivalentTo"} +xref: GARD:104 {source="Orphanet:2704"} xref: ICD10CM:N31.8 {source="Orphanet:2704", source="Orphanet:2704/attributed", source="Orphanet:2704/ntbt"} xref: MESH:C536480 {source="Orphanet:2704/e", source="MONDO:equivalentTo", source="Orphanet:2704"} xref: OMIMPS:236730 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -5360,6 +5404,7 @@ replaced_by: MONDO:0019238 id: MONDO:0000476 name: generalized dystonia subset: disease_grouping +subset: gard_rare {source="GARD:21618"} subset: ordo_group_of_disorders {source="Orphanet:376724"} synonym: "childhood torsion disease" RELATED [MESH:D004422] synonym: "dystonia 12" RELATED [DOID:0050835] @@ -5389,6 +5434,7 @@ synonym: "torsion dystonia" RELATED [MESH:D004422, Wikipedia:Dystonia#Generalize synonym: "torsion dystonia, Idiopathic" RELATED [MESH:D004422] synonym: "torsion spasm, Progressive" RELATED [MESH:D004422] xref: DOID:0050835 {source="MONDO:equivalentTo"} +xref: GARD:21618 {source="Orphanet:376724"} xref: ICD10CM:G24.1 {source="Orphanet:376724", source="DOID:0050835", source="Orphanet:376724/attributed", source="Orphanet:376724/ntbt"} xref: ICD10CM:G24.2 {source="DOID:0050835"} xref: ICD9:333.6 {source="DOID:0050835"} @@ -5476,7 +5522,6 @@ relationship: disease_disrupts GO:0030421 ! defecation id: MONDO:0000481 name: cervical dystonia def: "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." [https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia] -subset: gard_rare {source="GARD:0010668"} synonym: "spasmodic torticollis" RELATED [DOID:0050840] xref: DOID:0050840 {source="MONDO:equivalentTo"} xref: ICD9:333.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -5543,7 +5588,6 @@ id: MONDO:0000486 name: craniofacial dystonia alt_id: MONDO:0022885 def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [DOID:0050845, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] -subset: gard_rare synonym: "cranio-facial dystonia" EXACT [DOID:0050845] xref: DOID:0050845 {source="MONDO:equivalentTo"} xref: UMLS:C4023011 {source="MONDO:equivalentTo"} @@ -5742,7 +5786,6 @@ intersection_of: disease_has_location UBERON:0001723 ! tongue [Term] id: MONDO:0000501 name: obsolete Jensen syndrome -subset: gard_rare {source="GARD:0003046"} synonym: "deafness-opticoacoustic nerve atrophy-dementia syndrome" RELATED [Orphanet:3213] synonym: "Jensen syndrome" RELATED [OMIM:311150] synonym: "nerve deafness optic nerve atrophy, and dementia" RELATED [GARD:0003046] @@ -5823,6 +5866,7 @@ replaced_by: MONDO:0010913 id: MONDO:0000507 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia def: "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." [Orphanet:52430] +subset: gard_rare {source="GARD:10899"} subset: ordo_disease {source="Orphanet:52430"} synonym: "IBMPFD" EXACT ABBREVIATION [DOID:0050881, Orphanet:52430] synonym: "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" RELATED [GARD:0010899] @@ -5833,6 +5877,7 @@ synonym: "limb-girdle muscular dystrophy with Paget disease of bone" EXACT [Orph synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430] synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430] xref: DOID:0050881 {source="MONDO:equivalentTo"} +xref: GARD:10899 {source="Orphanet:52430"} xref: ICD10CM:G71.8 {source="Orphanet:52430", source="Orphanet:52430/attributed", source="Orphanet:52430/ntbt"} xref: OMIMPS:167320 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="MONDO:equivalentTo"} @@ -6488,10 +6533,11 @@ replaced_by: MONDO:0009133 id: MONDO:0000565 name: infective endocarditis def: "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." [https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis] -subset: gard_rare {source="GARD:0006337"} +subset: gard_rare {source="GARD:6337"} synonym: "endocarditis infective" EXACT [NCIT:C78265] synonym: "endocarditis, infective" RELATED [GARD:0006337] xref: DOID:0060000 {source="MONDO:equivalentTo"} +xref: GARD:6337 {source="Orphanet:570762"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C78265 {source="MONDO:equivalentTo"} xref: Orphanet:570762 {source="MONDO:equivalentTo"} @@ -6806,7 +6852,6 @@ is_a: MONDO:0002025 {source="MESH:D010262", source="MONDO:Redundant"} ! psychiat id: MONDO:0000597 name: Munchausen by proxy def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [DOID:0060045, http://en.wikipedia.org/wiki/Munchausen_by_proxy] -subset: gard_rare synonym: "Munchausen by proxy syndrome" EXACT [GARD:0007117] synonym: "Munchausen syndrome by proxy" EXACT [GARD:0007117] xref: DOID:0060045 {source="MONDO:equivalentTo"} @@ -6944,7 +6989,6 @@ relationship: excluded_subClassOf MONDO:0000434 {source="DOID:0060061"} ! obsole [Term] id: MONDO:0000608 name: familial juvenile hyperuricemic nephropathy -subset: gard_rare synonym: "familial juvenile gouty nephropathy" EXACT [GARD:0000067] synonym: "familial juvenile hyperuricemic nephropathy" EXACT [GARD:0000067] synonym: "familial nephropathy associated with hyperuricemia" EXACT [GARD:0000067] @@ -7366,7 +7410,6 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant id: MONDO:0000639 name: cartilage cancer def: "A cancer involving a cartilage tissue." [MONDO:patterns/cancer] -subset: gard_rare synonym: "cancer of cartilage tissue" EXACT [MONDO:patterns/cancer] synonym: "cartilage tissue cancer" EXACT [MONDO:patterns/location] synonym: "cartilaginous cancer" EXACT [GARD:0006004] @@ -7499,6 +7542,7 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0000645 name: fallopian tube benign neoplasm def: "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." [NCIT:P378] +subset: gard_rare {source="GARD:20203"} subset: ordo_disease {source="Orphanet:180237"} synonym: "benign fallopian tube neoplasm" EXACT [NCIT:C4517] synonym: "benign fallopian tube tumor" EXACT [NCIT:C4517] @@ -7515,6 +7559,7 @@ synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location] synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517] synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517] xref: DOID:0060111 {source="MONDO:equivalentTo"} +xref: GARD:20203 {source="Orphanet:180237"} xref: ICD10CM:D28.2 {source="Orphanet:180237/ntbt", source="Orphanet:180237"} xref: MedDRA:10053865 {source="Orphanet:180237/e", source="Orphanet:180237"} xref: NCIT:C4517 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -7794,7 +7839,6 @@ relationship: disease_has_basis_in_disruption_of GO:0007632 ! visual behavior id: MONDO:0000665 name: apraxia def: "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." [https://rarediseases.info.nih.gov/diseases/5838/apraxia] -subset: gard_rare {source="GARD:0005838"} synonym: "Apraxias" EXACT [MESH:D001072] synonym: "dyspraxia" EXACT [GARD:0005838] xref: DOID:0060135 {source="MONDO:equivalentTo"} @@ -7917,7 +7961,6 @@ is_a: MONDO:0005638 {source="DOID:0060147"} ! agnosia id: MONDO:0000678 name: simultanagnosia def: "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [DOID:0060148, http://en.wikipedia.org/wiki/Agnosia] -subset: gard_rare {source="GARD:0011943"} xref: DOID:0060148 {source="MONDO:equivalentTo"} is_a: MONDO:0005638 {source="DOID:0060148"} ! agnosia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia" xsd:anyURI {source="GARD:0011943"} @@ -7941,7 +7984,7 @@ xref: DOID:0060150 {source="MONDO:equivalentTo"} xref: HP:0010527 {source="MONDO:otherHierarchy"} is_a: MONDO:0005638 {source="DOID:0060150", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia intersection_of: MONDO:0005638 ! agnosia -intersection_of: disease_has_major_feature HP:0010527 ! Astereognosia +intersection_of: disease_has_major_feature HP:0010527 ! Astereognosis property_value: IAO:0000589 "astereognosia (disease)" xsd:string [Term] @@ -8058,7 +8101,7 @@ id: MONDO:0000688 name: inborn organic aciduria def: "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." [NCIT:C101334] subset: disease_grouping -subset: gard_rare {source="GARD:0009433"} +subset: gard_rare {source="GARD:9433"} subset: ordo_group_of_disorders {source="Orphanet:289899"} synonym: "disorder of organic acid metabolism" BROAD [NCIT:C101334] synonym: "inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -8069,6 +8112,7 @@ synonym: "organic acidemia" EXACT [DOID:0060159, GARD:0009433] synonym: "organic aciduria" EXACT [DOID:0060159, MONDO:0017358] synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0060159 {source="MONDO:equivalentTo"} +xref: GARD:9433 {source="Orphanet:289899"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101334 {source="MONDO:equivalentTo"} xref: Orphanet:289899 {source="MONDO:equivalentTo"} @@ -8604,7 +8648,6 @@ replaced_by: MONDO:0019347 id: MONDO:0000732 name: combined oxidative phosphorylation deficiency def: "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." [MONDO:cjm] -subset: gard_rare {source="GARD:0012893"} xref: DOID:0060286 {source="MONDO:equivalentTo"} xref: OMIMPS:609060 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="MONDO:cjm"} ! mitochondrial oxidative phosphorylation disorder @@ -8646,11 +8689,12 @@ replaced_by: MONDO:0008111 id: MONDO:0000736 name: dyschromatosis universalis hereditaria def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [DOID:0060304, http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, PMID:12372090] -subset: gard_rare {source="GARD:0001996"} +subset: gard_rare {source="GARD:1996"} subset: ordo_disease {source="Orphanet:241"} synonym: "DUH" RELATED ABBREVIATION [GARD:0001996] synonym: "dyschromatosis universalis" EXACT [MONDO:0007484] xref: DOID:0060304 {source="MONDO:equivalentTo"} +xref: GARD:1996 {source="Orphanet:241"} xref: ICD10CM:L81.8 {source="Orphanet:241", source="Orphanet:241/attributed", source="Orphanet:241/ntbt"} xref: MESH:C535730 {source="MONDO:equivalentTo", source="DOID:0060304"} xref: NCIT:C173131 {source="MONDO:equivalentTo"} @@ -8998,10 +9042,12 @@ replaced_by: MONDO:0019015 id: MONDO:0000754 name: anal fistula def: "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." [NCIT:C60785] +subset: gard_rare {source="GARD:20568"} synonym: "anal fistula" EXACT [MONDO:ambiguous] synonym: "anal fistula (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "anorectal fistula" EXACT [NCIT:C60785] xref: DOID:0060328 {source="MONDO:equivalentTo"} +xref: GARD:20568 {source="Orphanet:228113"} xref: HP:0010447 {source="MONDO:otherHierarchy", source="DOID:0060328"} xref: ICD10CM:K60.3 {source="MONDO:equivalentTo", source="DOID:0060328"} xref: MESH:D012003 {source="MONDO:equivalentTo"} @@ -9016,7 +9062,6 @@ property_value: IAO:0000589 "anal fistula (disease)" xsd:string id: MONDO:0000755 name: ectopic pregnancy def: "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." [NCIT:P378] -subset: gard_rare {source="GARD:0006318"} synonym: "eccyesis" EXACT [DOID:0060329] synonym: "extrauterine pregnancy" EXACT [NCIT:C34945] synonym: "pregnancy, ectopic" EXACT [NCIT:C34945] @@ -9905,12 +9950,14 @@ id: MONDO:0000827 name: salmonellosis def: "Infections with bacteria of the genus salmonella." [MESH:D012480] subset: disease_grouping +subset: gard_rare {source="GARD:18704"} subset: ordo_group_of_disorders {source="Orphanet:795"} synonym: "infections, Salmonella" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "rare form of salmonellosis" EXACT [MONDO:0019331] synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent] xref: DOID:0060859 {source="MONDO:equivalentTo"} xref: EFO:1001418 {source="MONDO:equivalentTo"} +xref: GARD:18704 {source="Orphanet:795"} xref: ICD10CM:A01.0 {source="Orphanet:795/btnt", source="Orphanet:795"} xref: ICD10CM:A01.1 {source="Orphanet:795/btnt", source="Orphanet:795"} xref: ICD10CM:A01.2 {source="Orphanet:795/btnt", source="Orphanet:795"} @@ -10118,9 +10165,11 @@ replaced_by: MONDO:0016761 id: MONDO:0000845 name: fibrous dysplasia def: "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." [NCIT:C34609] +subset: gard_rare {source="GARD:6444"} subset: ordo_malformation_syndrome {source="Orphanet:249"} synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609] xref: DOID:0080031 {source="MONDO:equivalentTo"} +xref: GARD:6444 {source="Orphanet:249"} xref: ICD10CM:Q78.1 {source="Orphanet:249", source="Orphanet:249/e", source="Orphanet:249/specific"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016664 {source="Orphanet:249", source="Orphanet:249/e"} @@ -10258,6 +10307,7 @@ replaced_by: MONDO:0019948 id: MONDO:0000863 name: myopathy, lactic acidosis, and sideroblastic anemia def: "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [Orphanet:2598] +subset: gard_rare {source="GARD:3885"} subset: ordo_disease {source="Orphanet:2598"} synonym: "mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892] @@ -10272,6 +10322,7 @@ synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:6004 synonym: "sideroblastic anaemia and mitochondrial myopathy" RELATED OMO:0003005 [] synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885] xref: DOID:0080099 {source="MONDO:equivalentTo"} +xref: GARD:3885 {source="Orphanet:2598"} xref: ICD10CM:G71.3 {source="Orphanet:2598/attributed", source="Orphanet:2598/ntbt", source="Orphanet:2598"} xref: MESH:C536101 {source="Orphanet:2598", source="MONDO:equivalentTo", source="Orphanet:2598/e"} xref: OMIMPS:600462 {source="MONDO:equivalentTo"} @@ -10335,7 +10386,6 @@ replaced_by: MONDO:0007614 id: MONDO:0000870 name: childhood acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." [NCIT:C3168] -subset: gard_rare {source="GARD:0009240"} synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168] synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168] @@ -10454,7 +10504,6 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0000873 name: lymphoblastic lymphoma def: "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." [NCIT:C9360] -subset: gard_rare {source="GARD:0003329"} synonym: "lymphoblastic lymphoma" EXACT [NCIT:C9360] synonym: "lymphoma, lymphoblastic" RELATED [GARD:0003329] synonym: "lymphoma, lymphoblastic, malignant" EXACT [NCIT:C9360] @@ -10524,7 +10573,6 @@ replaced_by: MONDO:0005723 id: MONDO:0000878 name: cytomegalovirus retinitis def: "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." [MESH:D017726] -subset: gard_rare {source="GARD:0009531"} synonym: "CMV retinitis" EXACT [DOID:0080160] synonym: "Cytomegaloviral Retinitis" EXACT [NCIT:C50521] synonym: "Cytomegalovirus caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -10773,6 +10821,7 @@ is_a: MONDO:0018905 {source="DOID:0080192"} ! diffuse large B-cell lymphoma id: MONDO:0000902 name: agenesis of the corpus callosum with peripheral neuropathy def: "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." [Orphanet:1496] +subset: gard_rare {source="GARD:1537"} subset: ordo_disease {source="Orphanet:1496"} synonym: "ACCPN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218000] synonym: "agenesis of corpus callosum with neuronopathy" RELATED [GARD:0001537] @@ -10790,6 +10839,7 @@ synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [OMIM:218000] xref: DOID:0060600 {source="MONDO:equivalentObsolete"} xref: DOID:0090003 {source="MONDO:equivalentTo"} +xref: GARD:1537 {source="Orphanet:1496"} xref: ICD10CM:G60.0 {source="Orphanet:1496/attributed", source="Orphanet:1496/ntbt", source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003"} xref: MESH:C536446 {source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="Orphanet:1496/e"} xref: OMIM:218000 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="Orphanet:1496/e"} @@ -10804,6 +10854,7 @@ property_value: confidence "0.04999999999999982" xsd:double id: MONDO:0000903 name: myoclonus-dystonia syndrome def: "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." [Orphanet:36899] +subset: gard_rare {source="GARD:7139"} synonym: "alcohol-responsive dystonia" RELATED [MESH:C536096] synonym: "dystonia 11" RELATED [GARD:0007139, MESH:C536096] synonym: "dystonia 11, myoclonic" RELATED [MESH:C536096] @@ -10821,6 +10872,7 @@ synonym: "myoclonus-Dystonia" RELATED [MESH:C536096] synonym: "myoclonus-dystonia" RELATED [GARD:0007139] synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096] xref: DOID:0090033 {source="MONDO:equivalentTo"} +xref: GARD:7139 {source="Orphanet:36899"} xref: ICD10CM:G24.1 {source="Orphanet:36899/attributed", source="Orphanet:36899/ntbt"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536096 {source="MONDO:equivalentTo", source="Orphanet:36899/e"} @@ -10891,6 +10943,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0000909 name: Bartter disease type 4B def: "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." [DOID:0110146, PMID:15044642] +subset: gard_rare {source="GARD:15612"} synonym: "BARTS4B" EXACT ABBREVIATION [DOID:0110146] synonym: "Bartter disease type 4B" EXACT CLINGEN_PREFERRED [] synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:613090] @@ -10899,6 +10952,7 @@ synonym: "Bartter syndrome, type 4b, digenic" EXACT [DOID:0110146] synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" RELATED [OMIM:613090] synonym: "neonatal Bartter syndrome type 4B with sensorineural deafness" EXACT [DOID:0110146] xref: DOID:0110146 {source="MONDO:equivalentTo"} +xref: GARD:15612 {source="OMIM:613090"} xref: ICD10CM:E26.8 {source="DOID:0110146"} xref: OMIM:613090 {source="MONDO:equivalentTo", source="DOID:0110146"} xref: Orphanet:112 {source="OMIM:613090"} @@ -10911,13 +10965,14 @@ is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-000 id: MONDO:0000910 name: retinitis pigmentosa 6 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." [DOID:0110413, PMID:2300556] -subset: gard_rare {source="GARD:0010377"} +subset: gard_rare {source="GARD:10377"} synonym: "retinitis pigmentosa 6" EXACT [MONDO:Lexical, OMIM:312612] synonym: "retinitis pigmentosa type 6" EXACT [DOID:0110413, MONDORULE:1] synonym: "retinitis pigmentosa, X-linked recessive, 6" RELATED [OMIM:312612] synonym: "RP 6" RELATED [GARD:0010377] synonym: "RP6" EXACT ABBREVIATION [DOID:0110413, MONDO:0010724, MONDO:Lexical, OMIM:312612] xref: DOID:0110413 {source="MONDO:equivalentTo"} +xref: GARD:10377 {source="OMIM:312612"} xref: ICD10CM:H35.5 {source="DOID:0110413", source="MONDO:relatedTo"} xref: MESH:C564065 {source="MONDO:equivalentTo"} xref: OMIM:312612 {source="DOID:0110413", source="MONDO:equivalentTo"} @@ -10949,6 +11004,7 @@ is_obsolete: true id: MONDO:0000912 name: autosomal recessive nonsyndromic hearing loss 5 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." [DOID:0110507, PMID:8944017] +subset: gard_rare {source="GARD:22585"} synonym: "autosomal recessive deafness 5" NARROW [DOID:0110507] synonym: "autosomal recessive nonsyndromic deafness 5" NARROW [OMIM:600792] synonym: "autosomal recessive nonsyndromic deafness type 5" NARROW [DOID:0110507, MONDORULE:1] @@ -10956,6 +11012,7 @@ synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical, OMIM:600792, O synonym: "DFNB5" NARROW ABBREVIATION [DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792] synonym: "neurosensory nonsyndromic recessive deafness 5" NARROW [OMIM:600792] xref: DOID:0110507 {source="MONDO:equivalentTo"} +xref: GARD:22585 {source="OMIM:600792"} xref: ICD10CM:H90.3 {source="DOID:0110507"} xref: MESH:C563444 {source="MONDO:equivalentTo"} xref: OMIM:600792 {source="DOID:0110507", source="MONDO:equivalentTo"} @@ -10969,6 +11026,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0000913 name: hereditary spherocytosis type 2 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16149"} synonym: "hereditary spherocytosis 2" EXACT [DOID:0110917] synonym: "hereditary spherocytosis caused by mutation in SPTB" EXACT [MONDO:design_pattern] synonym: "hereditary spherocytosis type 2" EXACT [MONDO:0014721] @@ -10978,6 +11036,7 @@ synonym: "spherocytosis, hereditary, 2" RELATED [OMIM:616649] synonym: "spherocytosis, type 2" EXACT [OMIM:616649] synonym: "SPTB hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110917 {source="MONDO:equivalentTo"} +xref: GARD:16149 {source="OMIM:616649"} xref: OMIM:616649 {source="MONDO:equivalentTo"} xref: UMLS:C2674219 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019350 {source="DOID:0110917", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis @@ -10990,6 +11049,7 @@ property_value: confidence "0.2777777777777777" xsd:double id: MONDO:0000914 name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." [DOID:0111035, PMID:10476042, PMID:8878478] +subset: gard_rare {source="GARD:1049"} synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [DOID:0111035] synonym: "CADASIL" RELATED ABBREVIATION [OMIM:125310, Orphanet:136] synonym: "CADASIL 1" EXACT [OMIM:125310] @@ -11005,6 +11065,7 @@ synonym: "dementia, hereditary multi-infarct type" EXACT [OMIM:125310] synonym: "familial vascular leukoencephalopathy" RELATED [GARD:0001049] synonym: "hereditary multi-infarct dementia" EXACT [DOID:13945, Orphanet:136] xref: DOID:0111035 {source="MONDO:equivalentTo"} +xref: GARD:1049 {source="Orphanet:136"} xref: ICD10CM:F01.1 {source="Orphanet:136", source="Orphanet:136/attributed", source="Orphanet:136/ntbt", source="DOID:0111035"} xref: MedDRA:10065551 {source="Orphanet:136", source="Orphanet:136/e"} xref: MESH:D046589 {source="Orphanet:136", source="DOID:13945", source="MONDO:equivalentTo", source="Orphanet:136/e"} @@ -11800,7 +11861,6 @@ intersection_of: disease_has_location UBERON:0002116 ! ileum id: MONDO:0000956 name: small intestine cancer def: "A primary or metastatic malignant neoplasm involving the small intestine." [NCIT:C7523] -subset: gard_rare {source="GARD:0009385"} synonym: "cancer of small intestine" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of small bowel" EXACT [NCIT:C7523] synonym: "malignant neoplasm of small intestine" EXACT [MONDO:patterns/cancer, NCIT:C7523] @@ -12444,7 +12504,6 @@ id: MONDO:0000989 name: mumps infectious disease alt_id: MONDO:0005863 def: "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." [NCIT:C29888] -subset: gard_rare {source="GARD:0007116"} synonym: "epidemic parotitis" EXACT [NCIT:C29888] synonym: "mumps" EXACT [NCIT:C29888] synonym: "Mumps virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -12580,7 +12639,7 @@ id: MONDO:0000995 name: familial periodic paralysis def: "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." [NCIT:C84709] subset: disease_grouping -subset: gard_rare {source="GARD:0006422"} +subset: gard_rare {source="GARD:21613"} subset: ordo_group_of_disorders synonym: "familial periodic paralyses" RELATED OMO:0003005 [] synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709] @@ -12598,6 +12657,7 @@ synonym: "periodic paralysis, normokalemic" RELATED [MESH:D010245] synonym: "periodic paralyzes, familial" RELATED [MESH:D010245] synonym: "periodic paralyzes, normokalemic" RELATED [MESH:D010245] xref: DOID:1029 {source="MONDO:equivalentTo"} +xref: GARD:21613 {source="Orphanet:371433"} xref: ICD10CM:G72.3 {source="DOID:1029", source="Orphanet:371433"} xref: MESH:D010245 {source="MONDO:equivalentTo", source="DOID:1029"} xref: NCIT:C84709 {source="MONDO:equivalentTo", source="DOID:1029"} @@ -12679,7 +12739,6 @@ intersection_of: realized_in_response_to_stimulus ENVO:02000100 ! mineral dust id: MONDO:0001001 name: baritosis def: "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." [NCIT:C34410] -subset: gard_rare {source="GARD:0008371"} synonym: "deposition of barium in the lungs" RELATED [GARD:0008371] synonym: "inhalation of barytes" RELATED [GARD:0008371] xref: DOID:10321 {source="MONDO:equivalentTo"} @@ -12732,7 +12791,6 @@ intersection_of: realized_in_response_to_stimulus ENVO:01001286 ! slate dust id: MONDO:0001005 name: kaolin pneumoconiosis def: "Pneumoconiosis caused by inhalation of kaolin dust." [NCIT:P378] -subset: gard_rare {source="GARD:0008355"} synonym: "Kaolinosis" EXACT [DOID:10331] synonym: "simple kaolinosis" RELATED [GARD:0008355] xref: DOID:10331 {source="MONDO:equivalentTo"} @@ -13105,7 +13163,6 @@ id: MONDO:0001029 name: Klippel-Feil syndrome def: "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome] comment: Usage notes: this class includes both isolated forms and forms that are features of other syndromes -subset: gard_rare {source="GARD:0010280"} synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [DOID:10426] synonym: "cervical vertebral fusion" RELATED [GARD:0010280] synonym: "congenital dystrophia brevicollis" RELATED [DOID:10426] @@ -13163,9 +13220,11 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0001032 name: Mooren ulcer +subset: gard_rare {source="GARD:22132"} subset: ordo_disease synonym: "Mooren's ulcer" EXACT [DOID:10439] xref: DOID:10439 {source="MONDO:equivalentTo"} +xref: GARD:22132 {source="Orphanet:519408"} xref: ICD10CM:H16.05 {source="DOID:10439"} xref: ICD9:370.07 {source="MONDO:equivalentTo", source="DOID:10439", source="MONDO:i2s"} xref: Orphanet:519408 {source="MONDO:equivalentTo"} @@ -13986,7 +14045,6 @@ replaced_by: MONDO:0015183 id: MONDO:0001078 name: tropical sprue def: "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." [NCIT:P378] -subset: gard_rare {source="GARD:0007824"} synonym: "idiopathic tropical malabsorption syndrome" RELATED [GARD:0007824] synonym: "post-infective tropical malabsorption" EXACT [NCIT:C45428] synonym: "sprue - tropical" EXACT [DOID:10607] @@ -14082,7 +14140,6 @@ intersection_of: disease_has_location UBERON:0000029 ! lymph node id: MONDO:0001083 name: Fanconi renotubular syndrome def: "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." [NCIT:C3034] -subset: gard_rare {source="GARD:0009120"} synonym: "adult Fanconi syndrome" NARROW [DOID:1062] synonym: "congenital Fanconi syndrome" NARROW [DOID:1062] synonym: "De toni-debre-Fanconi syndrome" EXACT [NCIT:C3034] @@ -14578,7 +14635,6 @@ replaced_by: MONDO:0018896 id: MONDO:0001112 name: bubonic plague def: "A plague in which the bacteria have infected the lymphatic system." [https://www.healthline.com/health/plague#types] -subset: gard_rare {source="GARD:0000183"} synonym: "black death" EXACT [DOID:10773] xref: DOID:10773 {source="MONDO:equivalentTo"} xref: ICD10CM:A20.0 {source="MONDO:equivalentTo", source="DOID:10773"} @@ -15214,7 +15270,6 @@ relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10869"} ! paralyti id: MONDO:0001147 name: meningocele def: "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." [NCIT:C105595] -subset: gard_rare synonym: "central nervous system meningocele" EXACT [NCIT:C105595] synonym: "meningocele" EXACT [MONDO:ambiguous, NCIT:C105595] synonym: "meningocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -15259,7 +15314,6 @@ intersection_of: disease_has_location UBERON:0005610 ! iliac vein id: MONDO:0001149 name: microcephaly def: "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." [NCIT:P378] -subset: gard_rare synonym: "microcephalus" EXACT [DOID:10907, ICD9CM:742.1] synonym: "microcephaly" EXACT [MONDO:ambiguous] synonym: "microcephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -15652,7 +15706,6 @@ id: MONDO:0001167 name: spastic diplegia alt_id: MONDO:0022698 def: "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." [NCIT:C34781] -subset: gard_rare synonym: "cerebral palsy spastic diplegic" RELATED [GARD:0009637] synonym: "cerebral spastic infantile paralysis" EXACT [DOID:10965] synonym: "diplegic infantile cerebral palsy" EXACT [DOID:10965, ICD9CM:343.0] @@ -15716,7 +15769,6 @@ is_a: MONDO:0000396 {source="DOID:10968", source="Wikipedia:Spastic_cerebral_pal id: MONDO:0001170 name: hemiplegia def: "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." [MESH:D006429] -subset: gard_rare {source="GARD:0006583"} synonym: "infantile hemiplegia" EXACT [DOID:10969] synonym: "postnatal infantile hemiplegia" EXACT [DOID:10969] xref: DOID:10969 {source="MONDO:equivalentTo"} @@ -15988,7 +16040,6 @@ intersection_of: disease_disrupts GO:0007613 ! memory id: MONDO:0001186 name: depersonalization disorder def: "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." [NCIT:P378] -subset: gard_rare {source="GARD:0006260"} synonym: "neurotic derealization" EXACT [DOID:11038] xref: DOID:11038 {source="MONDO:equivalentTo"} xref: ICD9:300.6 {source="DOID:11038", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -16169,7 +16220,7 @@ id: MONDO:0001195 name: spotted fever def: "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." [Wikipedia:Spotted_fever] subset: disease_grouping -subset: gard_rare {source="GARD:0004998"} +subset: gard_rare {source="GARD:19828"} subset: ordo_group_of_disorders {source="Orphanet:102022"} synonym: "fever, spotted" RELATED [MESH:D000073605] synonym: "fevers, spotted" RELATED [MESH:D000073605] @@ -16181,6 +16232,7 @@ synonym: "spotted fever rickettsiae disease" EXACT [Orphanet:102022] synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155] synonym: "spotted fevers" RELATED [MESH:D000073605] xref: DOID:11104 {source="MONDO:equivalentTo"} +xref: GARD:19828 {source="Orphanet:102022"} xref: ICD10CM:A77 {source="DOID:11104", source="MONDO:equivalentTo"} xref: ICD10CM:A77.0 {source="Orphanet:102022/btnt", source="Orphanet:102022"} xref: ICD10CM:A77.1 {source="Orphanet:102022/btnt", source="Orphanet:102022"} @@ -16549,7 +16601,6 @@ id: MONDO:0001217 name: pseudomembranous conjunctivitis alt_id: MONDO:0022856 def: "Conjunctivitis that is characterized by formation of a pseudomembrane." [NCIT:P378] -subset: gard_rare synonym: "conjunctivitis with pseudomembrane" EXACT [GARD:0008446] xref: DOID:11190 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.22 {source="DOID:11190"} @@ -16591,7 +16642,6 @@ is_a: MONDO:0001214 {source="DOID:11197"} ! acute conjunctivitis id: MONDO:0001220 name: hypoparathyroidism def: "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." [https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism] -subset: gard_rare {source="GARD:0006733"} synonym: "hypoparathyroidism, idiopathic (subtype)" RELATED [GARD:0006733] synonym: "parathyroid, underactivity of" RELATED [GARD:0006733] xref: DOID:11199 {source="MONDO:equivalentTo"} @@ -17076,6 +17126,7 @@ id: MONDO:0001246 name: typhus def: "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." [Wikipedia:Typhus] subset: disease_grouping +subset: gard_rare {source="GARD:19829"} subset: ordo_group_of_disorders {source="Orphanet:102023"} synonym: "classical typhus" RELATED [DOID:11256] synonym: "classical typhus (fever)" RELATED [DOID:11256] @@ -17112,6 +17163,7 @@ synonym: "typhus-group rickettsiae disease" EXACT [Orphanet:102023] synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156] synonym: "Urban typhus" RELATED [DOID:11256] xref: DOID:11256 {source="MONDO:equivalentTo"} +xref: GARD:19829 {source="Orphanet:102023"} xref: ICD10CM:A75 {source="DOID:11256"} xref: ICD10CM:A75.0 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"} xref: ICD10CM:A75.1 {source="Orphanet:102023", source="Orphanet:102023/btnt"} @@ -17172,7 +17224,6 @@ replaced_by: MONDO:0019173 id: MONDO:0001249 name: trachoma def: "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." [MESH:D014141] -subset: gard_rare {source="GARD:0010374"} synonym: "active stage trachoma" EXACT [DOID:11265] synonym: "trachoma dubium" EXACT [DOID:11265] xref: DOID:11265 {source="MONDO:equivalentTo"} @@ -17213,7 +17264,7 @@ xref: SCTID:193827004 {source="DOID:11267"} xref: SCTID:85149007 {source="MONDO:equivalentTo", source="DOID:11267"} xref: UMLS:C0152455 {source="MONDO:equivalentTo", source="DOID:11267"} is_a: MONDO:0005328 {source="DOID:11267/inferred", source="Wikipedia:Keratomalacia"} ! eye disorder -relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Low levels of vitamin A +relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Reduced circulating vitamin A concentration relationship: disease_has_basis_in_disruption_of GO:0010669 {source="Wikipedia:Keratomalacia"} ! epithelial structure maintenance relationship: disease_has_feature HP:0007957 {source="Wikipedia:Keratomalacia"} ! Corneal opacity relationship: disease_has_feature MONDO:0001515 {source="Wikipedia:Keratomalacia"} ! corneal degeneration @@ -17374,7 +17425,6 @@ relationship: disease_has_location UBERON:0000007 ! pituitary gland id: MONDO:0001260 name: cercarial dermatitis def: "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." [NCIT:P378] -subset: gard_rare {source="GARD:0009747"} synonym: "cutaneous schistosomiasis" EXACT [DOID:11302, ICD9CM:120.3] synonym: "duck Itch" EXACT [NCIT:C128349] synonym: "lake Itch" EXACT [NCIT:C128349] @@ -17482,7 +17532,6 @@ id: MONDO:0001266 name: erysipelas def: "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." [https://rarediseases.org/rare-diseases/erysipelas/] comment: The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes -subset: gard_rare {source="GARD:0006370"} xref: DOID:11330 {source="MONDO:equivalentTo"} xref: EFO:1001462 {source="MONDO:equivalentTo"} xref: HP:0001055 {source="MONDO:otherHierarchy"} @@ -17639,7 +17688,6 @@ is_a: MONDO:0002519 {source="DOID:11374"} ! anus disorder id: MONDO:0001275 name: spinal meningioma def: "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." [https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma] -subset: gard_rare {source="GARD:0010264"} synonym: "meningioma (disease) of spinal cord" EXACT [] synonym: "meningioma of spinal cord" EXACT [NCIT:C6935] synonym: "meningioma of the spinal cord" EXACT [NCIT:C6935] @@ -17716,12 +17764,14 @@ id: MONDO:0001280 name: choroiditis def: "An inflammatory process that affects the choroid." [NCIT:C35111] subset: disease_grouping +subset: gard_rare {source="GARD:4457"} subset: ordo_group_of_disorders {source="Orphanet:280892"} synonym: "Choroiditides" EXACT [MESH:D002833] synonym: "choroiditis" EXACT [NCIT:C35111, Orphanet:280892] synonym: "posterior uveitis" RELATED [MONDO:ambiguous, NCIT:C35111] synonym: "posterior uveitis (disease)" RELATED [MONDO:0017254] xref: DOID:11406 {source="MONDO:equivalentTo"} +xref: GARD:4457 {source="Orphanet:280892"} xref: HP:0012123 {source="MONDO:otherHierarchy"} xref: ICD10CM:H30.0 {source="Orphanet:280892", source="Orphanet:280892/btnt"} xref: ICD10CM:H30.1 {source="Orphanet:280892", source="Orphanet:280892/btnt"} @@ -17984,7 +18034,6 @@ intersection_of: disease_has_location UBERON:0036068 ! subglottis id: MONDO:0001294 name: Horner syndrome def: "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." [https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome] -subset: gard_rare {source="GARD:0006670"} synonym: "Bernard Horner syndrome" EXACT [DOID:11486] synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670] synonym: "cervical sympathetic paralysis" EXACT [DOID:11486] @@ -18124,7 +18173,6 @@ intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system id: MONDO:0001301 name: rumination disorder def: "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment." [https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder] -subset: gard_rare {source="GARD:0007594"} synonym: "psychogenic rumination" EXACT [DOID:11507] synonym: "rumination" EXACT [NCIT:C92567] synonym: "rumination syndrome" RELATED [GARD:0007594] @@ -18257,6 +18305,7 @@ id: MONDO:0001309 name: oculomotor nerve paralysis def: "Paralysis of the oculomotor nerve." [NCIT:C27597] subset: disease_grouping +subset: gard_rare {source="GARD:19544"} subset: ordo_group_of_disorders {source="Orphanet:98685"} synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern] synonym: "III nerve palsy" EXACT [DOID:11550] @@ -18267,6 +18316,7 @@ synonym: "oculomotor palsy" EXACT [MONDO:0020255] synonym: "third cranial nerve paralysis" EXACT [DOID:11550] synonym: "third cranial nerve paralysis, NOS" RELATED EXCLUDE [DOID:11550] xref: DOID:11550 {source="MONDO:equivalentTo"} +xref: GARD:19544 {source="Orphanet:98685"} xref: ICD10CM:H49.0 {source="DOID:11550"} xref: MESH:D015840 {source="DOID:11550"} xref: NCIT:C27597 {source="MONDO:equivalentTo", source="DOID:11550"} @@ -18542,6 +18592,7 @@ id: MONDO:0001325 name: penile cancer def: "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." [NCIT:C7547] subset: disease_grouping +subset: gard_rare {source="GARD:9366"} subset: ordo_group_of_disorders {source="Orphanet:398043"} synonym: "Ca penis" EXACT [DOID:11615] synonym: "cancer of penis" EXACT [MONDO:patterns/cancer, Orphanet:398043] @@ -18561,6 +18612,7 @@ synonym: "penile cancer" EXACT [Orphanet:398043] synonym: "penile neoplasm" BROAD [DOID:11615] synonym: "penis cancer" EXACT [MONDO:patterns/location] xref: DOID:11615 {source="MONDO:equivalentTo"} +xref: GARD:9366 {source="Orphanet:398043"} xref: ICD10CM:C60 {source="DOID:11615"} xref: ICD10CM:C60.0 {source="Orphanet:398043/ntbt", source="Orphanet:398043"} xref: ICD10CM:C60.1 {source="Orphanet:398043/ntbt", source="Orphanet:398043"} @@ -18953,6 +19005,7 @@ replaced_by: MONDO:0018949 id: MONDO:0001347 name: facioscapulohumeral muscular dystrophy def: "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." [NCIT:P378] +subset: gard_rare {source="GARD:9941"} subset: ordo_disease {source="Orphanet:269"} synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099] synonym: "facioscapulohumeral muscular dystrophy" EXACT [Orphanet:269] @@ -18964,6 +19017,7 @@ synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [DOID:11727] synonym: "Landouzy-Dejerine myopathy" EXACT [Orphanet:269] synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727] xref: DOID:11727 {source="MONDO:equivalentTo"} +xref: GARD:9941 {source="Orphanet:269"} xref: ICD10CM:G71.0 {source="Orphanet:269", source="Orphanet:269/ntbt", source="DOID:11727", source="Orphanet:269/inclusion"} xref: MedDRA:10064087 {source="Orphanet:269", source="Orphanet:269/e"} xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"} @@ -19518,7 +19572,6 @@ intersection_of: disease_has_location UBERON:0001255 ! urinary bladder id: MONDO:0001382 name: hepatorenal syndrome def: "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." [https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome] -subset: gard_rare {source="GARD:0006610"} synonym: "hepato-renal syndrome" RELATED [GARD:0006610] xref: DOID:11823 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.7 {source="DOID:11823", source="MONDO:equivalentTo"} @@ -19843,7 +19896,6 @@ is_a: MONDO:0004379 {source="DOID:11889"} ! female breast carcinoma id: MONDO:0001402 name: vaginal cancer def: "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." [NCIT:C7410] -subset: gard_rare {source="GARD:0009348"} synonym: "cancer of vagina" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410] synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM:184.0, MONDO:patterns/cancer, NCIT:C7410] @@ -20135,7 +20187,6 @@ is_a: MONDO:0018077 {source="DOID:11990", source="ICD10CM:A21.0"} ! tularemia id: MONDO:0001414 name: osteopoikilosis def: "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." [NCIT:P378] -subset: gard_rare synonym: "osteopathia condensans disseminata" RELATED [GARD:0004158] synonym: "osteopoikilosis" EXACT [MONDO:ambiguous] synonym: "osteopoikilosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -20416,7 +20467,6 @@ intersection_of: disease_has_location UBERON:0003728 ! mediastinum id: MONDO:0001427 name: Dieulafoy lesion def: "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." [https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion] -subset: gard_rare {source="GARD:0010930"} synonym: "Dieulafoy disease" RELATED [GARD:0010930] synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [DOID:12070] synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [DOID:12070] @@ -20545,7 +20595,6 @@ is_a: MONDO:0004579 {source="DOID:12108"} ! retinoschisis id: MONDO:0001436 name: hemosiderosis def: "Accumulation of iron in internal organs." [NCIT:C82892] -subset: gard_rare {source="GARD:0006595"} synonym: "haemosiderosis" EXACT [DOID:12119] xref: DOID:12119 {source="MONDO:equivalentTo"} xref: MESH:D006486 {source="DOID:12119", source="MONDO:equivalentTo"} @@ -20665,6 +20714,7 @@ is_a: MONDO:0003648 {source="DOID:1214"} ! tympanic membrane disorder id: MONDO:0001444 name: Chagas disease def: "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." [NCIT:C84629] +subset: gard_rare {source="GARD:18795"} subset: ordo_disease {source="Orphanet:3386"} synonym: "American trypanosomiasis" RELATED [DOID:12140] synonym: "Chagas disease" EXACT [Orphanet:3386] @@ -20681,6 +20731,7 @@ synonym: "Trypanosoma cruzi disease or disorder" EXACT [] synonym: "Trypanosoma cruzi infectious disease" EXACT [] xref: DOID:12140 {source="MONDO:equivalentTo"} xref: EFO:0008559 {source="MONDO:equivalentTo"} +xref: GARD:18795 {source="Orphanet:3386"} xref: ICD10CM:B57 {source="MONDO:equivalentTo"} xref: ICD10CM:B57.0 {source="Orphanet:3386", source="Orphanet:3386/btnt"} xref: ICD10CM:B57.1 {source="Orphanet:3386", source="Orphanet:3386/btnt"} @@ -21828,7 +21879,6 @@ is_a: MONDO:0000942 {source="DOID:1237"} ! corneal disorder id: MONDO:0001516 name: spinal muscular atrophy def: "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy] -subset: gard_rare {source="GARD:0007674"} xref: DOID:12377 {source="MONDO:equivalentTo"} xref: EFO:0008525 {source="MONDO:equivalentTo"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -22425,6 +22475,7 @@ id: MONDO:0001549 name: hemolytic-uremic syndrome def: "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:22233"} subset: ordo_group_of_disorders synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells')" RELATED OMO:0003005 [] synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588] @@ -22432,6 +22483,7 @@ synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554] synonym: "hemolytic uremic syndrome" EXACT [DOID:12554] synonym: "HUS" EXACT ABBREVIATION [NCIT:C75545] xref: DOID:12554 {source="MONDO:equivalentTo"} +xref: GARD:22233 {source="Orphanet:544458"} xref: ICD10CM:D59.3 {source="MONDO:equivalentTo", source="DOID:12554"} xref: ICD9:283.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12554"} xref: MESH:D006463 {source="MONDO:equivalentTo", source="DOID:12554"} @@ -22585,7 +22637,6 @@ id: MONDO:0001558 name: Potter sequence def: "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." [NCIT:P378] comment: Editor note: check for subtypes, relationship to OMIM:263200 -subset: gard_rare synonym: "oligohydramnios sequence" EXACT [GARD:0004462, NCIT:C40435] synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462] synonym: "Potter's sequence" EXACT [NCIT:C40435] @@ -22756,7 +22807,6 @@ relationship: disease_has_major_feature HP:0003072 ! Hypercalcemia id: MONDO:0001567 name: nephrocalcinosis def: "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." [https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis] -subset: gard_rare {source="GARD:0007177"} synonym: "hypercalcemic nephropathy" RELATED [GARD:0007177] xref: DOID:12679 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -22788,7 +22838,7 @@ is_a: MONDO:0004750 {source="NCIT:C92563"} ! language disorder id: MONDO:0001569 name: acoustic neuroma def: "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing." [NCIT:P378] -subset: gard_rare +subset: gard_rare {source="GARD:223"} subset: ordo_clinical_subtype {source="Orphanet:252175"} synonym: "acoustic neurilemmoma" EXACT [NCIT:C3276] synonym: "acoustic neurilemoma" EXACT [GARD:0000223, Orphanet:252175] @@ -22805,6 +22855,7 @@ synonym: "vestibular schwannoma" EXACT [DOID:12689, MONDO:ambiguous, NCIT:C3276] synonym: "vestibular schwannoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:2012-6947 {source="DOID:12689"} xref: DOID:12689 {source="MONDO:equivalentTo"} +xref: GARD:223 {source="Orphanet:252175"} xref: HP:0009588 {source="MONDO:otherHierarchy"} xref: ICD10CM:D33.3 {source="Orphanet:252175", source="Orphanet:252175/e"} xref: MedDRA:10000523 {source="Orphanet:252175", source="Orphanet:252175/e"} @@ -23073,6 +23124,7 @@ is_a: MONDO:0002491 {source="DOID:12797"} ! substance abuse id: MONDO:0001586 name: mucopolysaccharidosis type 1 def: "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." [NCIT:P378] +subset: gard_rare {source="GARD:10335"} subset: ordo_disease {source="Orphanet:579"} synonym: "Alpha-L-iduronidase deficiency" EXACT [Orphanet:579] synonym: "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)" RELATED [GARD:0010335] @@ -23096,6 +23148,7 @@ synonym: "mucopolysaccharidosis, type 1" EXACT [DOID:12802] synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)" RELATED [GARD:0010335] synonym: "severe MPS I (subtype, also known as Hurler syndrome)" RELATED [GARD:0010335] xref: DOID:12802 {source="MONDO:equivalentTo"} +xref: GARD:10335 {source="Orphanet:579"} xref: ICD10CM:E76.0 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e", source="Orphanet:579/specific"} xref: MedDRA:10056886 {source="Orphanet:579", source="Orphanet:579/e"} xref: MESH:D008059 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e"} @@ -23240,6 +23293,7 @@ intersection_of: disease_has_inflammation_site UBERON:0003701 ! calcaneal tendon id: MONDO:0001595 name: choreatic disease def: "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." [NCIT:C84633] +subset: gard_rare {source="GARD:1305"} subset: ordo_disease {source="Orphanet:1429"} synonym: "Bch" RELATED [OMIM:118700] synonym: "benign familial chorea" EXACT [Orphanet:1429] @@ -23251,6 +23305,7 @@ synonym: "hereditary chorea" RELATED [DOID:12859] synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700] xref: DOID:12859 {source="MONDO:equivalentTo"} xref: EFO:0004152 {source="MONDO:equivalentTo"} +xref: GARD:1305 {source="Orphanet:1429"} xref: HP:0002072 {source="MONDO:otherHierarchy"} xref: ICD10CM:G25.5 {source="DOID:12859", source="Orphanet:1429/attributed", source="Orphanet:1429/ntbt", source="Orphanet:1429"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -25036,6 +25091,7 @@ id: MONDO:0001703 name: color vision disorder def: "The absence of or defect in the perception of colors." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:19537"} subset: ordo_group_of_disorders {source="Orphanet:98658"} synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE] synonym: "blindness colour" EXACT OMO:0003005 [] @@ -25047,6 +25103,7 @@ synonym: "colour blindness" EXACT OMO:0003005 [] synonym: "colour vision defects" EXACT OMO:0003005 [] synonym: "colour vision deficiency" EXACT OMO:0003005 [] xref: DOID:13399 {source="MONDO:equivalentTo"} +xref: GARD:19537 {source="Orphanet:98658"} xref: ICD10CM:H53.5 {source="Orphanet:98658", source="DOID:13399", source="Orphanet:98658/attributed", source="Orphanet:98658/ntbt"} xref: ICD10CM:H53.50 {source="DOID:13399"} xref: ICD9:368.5 {source="DOID:13399"} @@ -25180,7 +25237,6 @@ relationship: disease_has_location UBERON:0002394 ! bile duct id: MONDO:0001711 name: hepatic encephalopathy def: "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." [https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy] -subset: gard_rare {source="GARD:0010452"} synonym: "encephalopathy, hepatic" RELATED [GARD:0010452] synonym: "Hepatoencephalopathy" RELATED [GARD:0010452] synonym: "portal-systemic encephalopathy" EXACT [DOID:13413] @@ -25245,6 +25301,7 @@ name: inherited aplastic anemia def: "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." [MESH:D029502] comment: In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency subset: disease_grouping +subset: gard_rare {source="GARD:18889"} subset: ordo_group_of_disorders {source="Orphanet:68383"} synonym: "congenital aplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital aplastic anemia" RELATED [] @@ -25259,6 +25316,7 @@ synonym: "hypoplastic anemia - familial" RELATED [] synonym: "rare constitutional aplastic anaemia" NARROW OMO:0003005 [] synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383] xref: DOID:1342 {source="MONDO:equivalentTo"} +xref: GARD:18889 {source="Orphanet:68383"} xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"} xref: ICD10CM:D61.01 {source="DOID:1342"} xref: ICD9:284.0 {source="DOID:1342", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -25284,7 +25342,6 @@ relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1342"} ! idiopathi id: MONDO:0001714 name: bejel def: "A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum." [Wikipedia:Nonvenereal_endemic_syphilis] -subset: gard_rare {source="GARD:0005905"} synonym: "Dichuchwa" RELATED [GARD:0005905] synonym: "endemic syphilis" RELATED [GARD:0005905, Wikipedia:Nonvenereal_endemic_syphilis] synonym: "Frenga" RELATED [GARD:0005905] @@ -25607,7 +25664,7 @@ id: MONDO:0001734 name: tuberous sclerosis def: "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." [NCIT:P378] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:7830"} subset: ordo_disease {source="Orphanet:805"} synonym: "adenoma sebaceum" RELATED [MESH:D014402] synonym: "adenoma sebaceum syndrome" RELATED [] @@ -25644,6 +25701,7 @@ synonym: "tuberous sclerosis Complex" RELATED [MESH:D014402] synonym: "tuberous sclerosis complex" EXACT [MONDO:0019341] synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424] xref: DOID:13515 {source="MONDO:equivalentTo"} +xref: GARD:7830 {source="Orphanet:805"} xref: ICD10CM:Q85.1 {source="DOID:13515", source="Orphanet:805/specific", source="Orphanet:805", source="Orphanet:805/e"} xref: ICD9:759.5 {source="DOID:13515", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045138 {source="Orphanet:805", source="Orphanet:805/e"} @@ -25980,7 +26038,6 @@ is_a: MONDO:0002654 {source="DOID:13589"} ! uterine disorder id: MONDO:0001754 name: eclampsia def: "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures." [NCIT:P378] -subset: gard_rare {source="GARD:0006316"} synonym: "eclampsia in puerperium" EXACT [DOID:13593] synonym: "eclampsia, postpartum" EXACT [DOID:13593, ICD9CM:642.64] synonym: "postpartum eclampsia" EXACT [DOID:13593] @@ -26693,7 +26750,6 @@ replaced_by: MONDO:0009176 id: MONDO:0001797 name: chancroid def: "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." [https://rarediseases.info.nih.gov/diseases/9522/chancroid] -subset: gard_rare {source="GARD:0009522"} synonym: "Chancroids" RELATED [MESH:D002602] synonym: "Ulcus molle, skin" EXACT [DOID:13778] xref: DOID:13778 {source="MONDO:equivalentTo"} @@ -27770,7 +27826,6 @@ is_a: MONDO:0004985 {source="DOID:14042"} ! bipolar disorder id: MONDO:0001867 name: phaeohyphomycosis def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] -subset: gard_rare {source="GARD:0012803"} synonym: "infection by dematiacious fungi" EXACT [DOID:14049] synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM:117.8] synonym: "phaehyphomycosis" EXACT [DOID:14049] @@ -28047,6 +28102,7 @@ is_a: MONDO:0006771 {source="DOID:14111"} ! glossitis id: MONDO:0001881 name: toxic shock syndrome def: "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." [MONDO:cjm, NCIT:C35498, Wikipedia:Toxic_shock_syndrome] +subset: gard_rare {source="GARD:9560"} subset: ordo_disease {source="Orphanet:36234"} synonym: "bacterial toxic-shock syndrome" EXACT [MONDO:0018179] synonym: "bacterial TSS" EXACT [Orphanet:36234] @@ -28059,6 +28115,7 @@ synonym: "toxic shock syndrome, (TSS)" EXACT [NCIT:C35498] synonym: "TSS" EXACT ABBREVIATION [DOID:14115] synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498] xref: DOID:14115 {source="MONDO:equivalentTo"} +xref: GARD:9560 {source="Orphanet:36234"} xref: ICD10CM:A48.3 {source="Orphanet:36234/e", source="MONDO:equivalentTo", source="DOID:14115", source="Orphanet:36234"} xref: ICD9:040.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14115"} xref: MESH:D012772 {source="MONDO:equivalentTo", source="DOID:14115"} @@ -28484,7 +28541,6 @@ replaced_by: MONDO:0018570 id: MONDO:0001909 name: renal tubular acidosis def: "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." [MESH:D000141] -subset: gard_rare {source="GARD:0007552"} xref: DOID:14219 {source="MONDO:equivalentTo"} xref: ICD10CM:N25.89 {source="DOID:14219"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -29049,11 +29105,13 @@ is_a: MONDO:0005136 {source="DOID:14325"} ! malaria id: MONDO:0001945 name: postencephalitic Parkinson disease def: "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." [MONDO:cjm, Wikipedia:Postencephalitic_parkinsonism] +subset: gard_rare {source="GARD:19370"} subset: ordo_disease {source="Orphanet:97349"} synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898] synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974] xref: DOID:14332 {source="MONDO:equivalentTo"} xref: EFO:1001402 {source="MONDO:equivalentTo"} +xref: GARD:19370 {source="Orphanet:97349"} xref: ICD10CM:G21.3 {source="Orphanet:97349", source="DOID:14332", source="Orphanet:97349/e"} xref: MESH:D010301 {source="MONDO:equivalentTo", source="DOID:14332"} xref: NCIT:C34898 {source="MONDO:equivalentTo", source="DOID:14332"} @@ -29231,6 +29289,7 @@ intersection_of: MONDO:0002428 ! protozoa infectious disease id: MONDO:0001956 name: capillary leak syndrome def: "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." [NCIT:P378] +subset: gard_rare {source="GARD:1084"} subset: ordo_disease {source="Orphanet:188"} synonym: "acute vascular leak syndrome" EXACT [NCIT:C62578] synonym: "AVLS" EXACT ABBREVIATION [NCIT:C62578] @@ -29244,6 +29303,7 @@ synonym: "periodic systemic capillary leak syndrome" RELATED [GARD:0001084] synonym: "SCLS" EXACT ABBREVIATION [Orphanet:188] synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996] xref: DOID:14400 {source="MONDO:equivalentTo"} +xref: GARD:1084 {source="Orphanet:188"} xref: ICD10CM:I78.8 {source="Orphanet:188/ntbt", source="Orphanet:188"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007196 {source="Orphanet:188/e", source="Orphanet:188"} @@ -29365,7 +29425,6 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0001967 name: gonadal dysgenesis def: "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." [NCIT:C61420] -subset: gard_rare {source="GARD:0002538"} synonym: "gonadal dysgenesis syndrome" EXACT [DOID:14447] xref: DOID:14447 {source="MONDO:equivalentTo"} xref: ICD9:758.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14447"} @@ -29391,7 +29450,6 @@ replaced_by: MONDO:0010765 id: MONDO:0001969 name: mixed gonadal dysgenesis def: "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." [MESH:D006060] -subset: gard_rare {source="GARD:0002539"} synonym: "gonadal dysgenesis mixed" RELATED [GARD:0002539] xref: DOID:14449 {source="MONDO:equivalentTo"} xref: MESH:D006060 {source="DOID:14449", source="MONDO:equivalentTo"} @@ -29411,12 +29469,13 @@ replaced_by: MONDO:0008223 id: MONDO:0001971 name: farmer's lung disease def: "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." [NCIT:P378] -subset: gard_rare {source="GARD:0006427"} +subset: gard_rare {source="GARD:6427"} subset: ordo_disease {source="Orphanet:99906"} synonym: "farmer lung" EXACT [DOID:14453] synonym: "farmer's lung" EXACT [MONDO:0020534] synonym: "Farmers lung" EXACT [DOID:14453] xref: DOID:14453 {source="MONDO:equivalentTo"} +xref: GARD:6427 {source="Orphanet:99906"} xref: ICD10CM:J67.0 {source="Orphanet:99906/e", source="Orphanet:99906", source="DOID:14453"} xref: ICD9:495.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14453"} xref: MedDRA:10016221 {source="Orphanet:99906/e", source="Orphanet:99906"} @@ -29579,7 +29638,6 @@ replaced_by: MONDO:0019149 id: MONDO:0001982 name: Niemann-Pick disease def: "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." [Wikipedia:Niemann%E2%80%93Pick_disease] -subset: gard_rare synonym: "lipoid histiocytosis" EXACT [DOID:14504] synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [DOID:14504] synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [DOID:14504] @@ -29948,7 +30006,6 @@ is_a: MONDO:0005420 {source="DOID:1458"} ! hypothyroidism id: MONDO:0002003 name: papilledema def: "Swelling around the optic disk, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." [NCIT:C3307] -subset: gard_rare {source="GARD:0007318"} synonym: "Choked disc" RELATED OMO:0003005 [] synonym: "Choked disk" RELATED [GARD:0007318] synonym: "edema of the optic disk" RELATED [GARD:0007318] @@ -30100,7 +30157,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0002010 name: FG syndrome def: "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." [GARD:0002317] -subset: gard_rare {source="GARD:0002317"} synonym: "FGS" RELATED ABBREVIATION [GARD:0002317] synonym: "FGS1" NARROW ABBREVIATION [GARD:0002317] synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [GARD:0002317] @@ -30158,6 +30214,7 @@ id: MONDO:0002013 name: lymphangioma def: "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." [NCIT:C8965] subset: disease_grouping +subset: gard_rare {source="GARD:9789"} subset: ordo_group_of_disorders {source="Orphanet:2415"} synonym: "benign lymphangioma" EXACT [DOID:1475] synonym: "benign lymphangioma (morphologic abnormality)" EXACT [DOID:1475] @@ -30166,6 +30223,7 @@ synonym: "LM" RELATED ABBREVIATION [Orphanet:2415] synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415] synonym: "lymphangioma, benign" EXACT [NCIT:C8965] xref: DOID:1475 {source="MONDO:equivalentTo"} +xref: GARD:9789 {source="Orphanet:2415"} xref: ICD10CM:D18.1 {source="DOID:1475", source="Orphanet:2415", source="Orphanet:2415/e"} xref: ICD9:228.1 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9170/0 {source="NCIT:C8965"} @@ -31282,7 +31340,6 @@ relationship: excluded_subClassOf MONDO:0000631 {source="DOID:166"} ! bone benig id: MONDO:0002073 name: malignant pineal area germ cell neoplasm def: "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." [NCIT:P378] -subset: gard_rare synonym: "malignant germ cell neoplasm of pineal gland" EXACT [NCIT:C6767] synonym: "malignant germ cell neoplasm of pineal parenchyma" EXACT [NCIT:C6767] synonym: "malignant germ cell neoplasm of the pineal gland" EXACT [NCIT:C6767] @@ -31769,6 +31826,7 @@ relationship: excluded_subClassOf MONDO:0000473 {source="DOID:175"} ! arterial d id: MONDO:0002096 name: malignant conjunctival melanoma def: "A malignant melanoma within the conjunctiva of the eye." [NCIT:C4550] +subset: gard_rare {source="GARD:10744"} synonym: "CM" RELATED ABBREVIATION [ONCOTREE:CM] synonym: "conjunctiva melanoma" EXACT [NCIT:C4550] synonym: "conjunctiva melanoma (disease)" EXACT [MONDO:patterns/location] @@ -31783,6 +31841,7 @@ synonym: "melanoma of conjunctiva" EXACT [NCIT:C4550] synonym: "melanoma of the conjunctiva" EXACT [NCIT:C4550] xref: DOID:1751 {source="MONDO:equivalentTo"} xref: EFO:1000204 {source="MONDO:equivalentTo"} +xref: GARD:10744 {source="Orphanet:617910"} xref: NCIT:C4550 {source="MONDO:equivalentTo"} xref: ONCOTREE:CM {source="MONDO:equivalentTo"} xref: Orphanet:617910 {source="MONDO:equivalentTo"} @@ -31966,7 +32025,6 @@ is_a: MONDO:0002025 {source="DOID:1766", source="MESH:D009110/inferred", source= id: MONDO:0002104 name: conversion disorder def: "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." [https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder] -subset: gard_rare {source="GARD:0006191"} synonym: "conversion hysteria or reaction" EXACT [DOID:1768] synonym: "conversion hysterical neurosis" EXACT [DOID:1768, MTH:NOCODE] synonym: "FND" RELATED ABBREVIATION [GARD:0006191] @@ -32404,7 +32462,6 @@ is_a: MONDO:0001854 {source="DOID:1822"} ! lacrimal apparatus disorder id: MONDO:0002125 name: status epilepticus def: "A life-threatening situation in which the brain is in a continuous state of seizure." [NCIT:P378] -subset: gard_rare {source="GARD:0010191"} synonym: "GCSE" RELATED ABBREVIATION [GARD:0010191] synonym: "generalised convulsive status epilepticus" RELATED OMO:0003005 [] synonym: "generalized convulsive status epilepticus" RELATED [GARD:0010191] @@ -32452,7 +32509,6 @@ property_value: IAO:0000589 "urethral stricture (disease)" xsd:string id: MONDO:0002128 name: mononeuritis multiplex def: "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." [NCIT:C70938] -subset: gard_rare {source="GARD:0007056"} synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD9CM:354.5, NCIT:C70938] xref: DOID:1835 {source="MONDO:equivalentTo"} xref: ICD10CM:G58.7 {source="MONDO:equivalentTo", source="DOID:1835"} @@ -32737,7 +32793,7 @@ id: MONDO:0002142 name: undifferentiated pleomorphic sarcoma alt_id: MONDO:0016069 def: "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." [NCIT:C4247] -subset: gard_rare {source="GARD:0006963"} +subset: gard_rare {source="GARD:6963"} subset: ordo_disease {source="Orphanet:2023"} synonym: "adult malignant fibrous histiocytoma" EXACT [NCIT:C114541] synonym: "adult unclassified pleomorphic sarcoma" EXACT [NCIT:C114541] @@ -32767,6 +32823,7 @@ synonym: "undifferentiated pleomorphic soft tissue sarcoma" EXACT [NCIT:C4247] synonym: "UPS" EXACT ABBREVIATION [NCIT:C4247, Orphanet:2023] xref: DOID:1907 {source="MONDO:equivalentTo"} xref: EFO:1001972 {source="MONDO:equivalentTo"} +xref: GARD:6963 {source="Orphanet:2023"} xref: HGNC:16982 {source="GARD:0006963"} xref: ICD10CM:C49.9 {source="Orphanet:2023", source="Orphanet:2023/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -32836,6 +32893,7 @@ id: MONDO:0002145 name: disorder of sexual differentiation def: "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." [NCIT:C103186] subset: disease_grouping +subset: gard_rare {source="GARD:19147"} subset: ordo_group_of_disorders {source="Orphanet:90771"} synonym: "CARD" BROAD ABBREVIATION [NCIT:C103186] synonym: "conditions affecting reproductive development" EXACT [NCIT:C103186] @@ -32852,6 +32910,7 @@ synonym: "sex differentiation disease" EXACT [DOID:1923] synonym: "sex differentiation disorder" EXACT [DOID:1923] synonym: "sexual differentiation disorder" EXACT [NCIT:C103186] xref: DOID:1923 {source="MONDO:equivalentTo"} +xref: GARD:19147 {source="Orphanet:90771"} xref: GTR:AN1172969 xref: MedDRA:10070597 {source="Orphanet:90771", source="Orphanet:90771/e"} xref: MESH:D012734 {source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923", source="Orphanet:90771/e"} @@ -33002,7 +33061,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:5721 ! Trichomonas id: MONDO:0002155 name: cholecystitis def: "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." [NCIT:P378] -subset: gard_rare synonym: "acalculous cholecystitis" RELATED [GARD:0000030] synonym: "acute and chronic cholecystitis" EXACT [DOID:1949, ICD9CM:575.12] synonym: "acute cholecystitis" NARROW [DOID:1949, ICD9CM:575.0, NCIT:C35152] @@ -33056,6 +33114,7 @@ replaced_by: MONDO:0006206 id: MONDO:0002158 name: fallopian tube cancer def: "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." [NCIT:C7480] +subset: gard_rare {source="GARD:20204"} subset: ordo_disease {source="Orphanet:180242"} synonym: "cancer of fallopian tube" EXACT [MONDO:patterns/cancer] synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242] @@ -33085,6 +33144,7 @@ synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032] synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480] synonym: "tumour of the fallopian tube" BROAD OMO:0003005 [] xref: DOID:1964 {source="MONDO:equivalentTo"} +xref: GARD:20204 {source="Orphanet:180242"} xref: ICD10CM:C57.0 {source="DOID:1964", source="Orphanet:180242", source="Orphanet:180242/e"} xref: ICD9:183.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1964"} xref: MedDRA:10025915 {source="Orphanet:180242", source="Orphanet:180242/e"} @@ -33542,7 +33602,6 @@ is_a: MONDO:0002185 {source="DOID:203"} ! hyperostosis id: MONDO:0002182 name: communication disorder def: "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." [NCIT:P378] -subset: gard_rare synonym: "communicative disorders" EXACT [NCIT:C2958] xref: DOID:2033 {source="MONDO:equivalentTo"} xref: ICD10CM:F80.9 {source="DOID:2033"} @@ -35828,10 +35887,12 @@ replaced_by: MONDO:0019933 id: MONDO:0002303 name: central retinal vein occlusion def: "Blockage of the central retinal vein." [NCIT:P378] +subset: gard_rare {source="GARD:21734"} synonym: "central retinal vein retinal vein occlusion" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "central retinal Venous occlusion" EXACT [NCIT:C118859] synonym: "retinal vein occlusion of central retinal vein" EXACT [MONDO:design_pattern] xref: DOID:2450 {source="MONDO:equivalentTo"} +xref: GARD:21734 {source="Orphanet:411527"} xref: ICD10CM:H34.81 {source="DOID:2450"} xref: ICD9:362.35 {source="DOID:2450", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C118859 {source="DOID:2450", source="MONDO:equivalentTo"} @@ -35848,7 +35909,6 @@ id: MONDO:0002304 name: protein S deficiency def: "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." [https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency] comment: Editor note: TODO axiomatize -subset: gard_rare {source="GARD:0004524"} synonym: "Protein S deficiency" EXACT [DOID:2451] synonym: "Protein S deficiency disease" EXACT [NCIT:C99026] xref: DOID:2451 {source="MONDO:equivalentTo"} @@ -35920,7 +35980,6 @@ intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva id: MONDO:0002308 name: giant papillary conjunctivitis def: "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." [NCIT:P378] -subset: gard_rare {source="GARD:0008445"} synonym: "GPC" RELATED ABBREVIATION [GARD:0008445] xref: DOID:2457 {source="MONDO:equivalentTo"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -36910,7 +36969,6 @@ intersection_of: disease_has_location UBERON:0007844 {source="NCIT:C4302"} ! car id: MONDO:0002360 name: chondroma def: "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." [NCIT:C53459] -subset: gard_rare {source="GARD:0006052"} synonym: "central chondroma" EXACT [DOID:2602, NCIT:C3007] synonym: "chondroma" EXACT [NCIT:C53459] synonym: "chondroma, benign" EXACT [NCIT:C53459] @@ -37466,7 +37524,6 @@ intersection_of: disease_has_location UBERON:0002113 ! kidney id: MONDO:0002387 name: liver angiosarcoma def: "A malignant vascular neoplasm arising from the liver." [NCIT:C4438] -subset: gard_rare {source="GARD:0005813"} synonym: "angiosarcoma (disease) of liver" EXACT [] synonym: "angiosarcoma of liver" EXACT [DOID:268, NCIT:C4438] synonym: "angiosarcoma of the liver" EXACT [GARD:0005813, NCIT:C4438] @@ -37940,6 +37997,7 @@ id: MONDO:0002412 name: disorder of glycogen metabolism def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:C61272] subset: disease_grouping +subset: gard_rare {source="GARD:18973"} subset: ordo_group_of_disorders {source="Orphanet:79201"} synonym: "glycogen metabolism disorder" EXACT [DOID:0050728, DOID:2747] synonym: "glycogen storage disease" EXACT [MONDO:0019244, OMIMPS:232200] @@ -37953,6 +38011,7 @@ synonym: "inborn glycogen storage disorder" EXACT [] synonym: "rare inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050728 {source="MONDO:equivalentTo"} xref: DOID:2747 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:18973 {source="Orphanet:79201"} xref: ICD10CM:E74.0 {source="Orphanet:79201/e", source="Orphanet:79201/specific", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"} xref: ICD10CM:E74.00 {source="DOID:2747"} xref: ICD9:271.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2747"} @@ -37980,6 +38039,7 @@ id: MONDO:0002413 name: glycogen storage disease I alt_id: MONDO:0018220 def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364] +subset: gard_rare {source="GARD:16523"} subset: ordo_disease {source="Orphanet:364"} synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749] synonym: "G6P deficiency" EXACT [Orphanet:364] @@ -37999,6 +38059,7 @@ synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] xref: DOID:0081329 {source="MONDO:equivalentTo"} +xref: GARD:16523 {source="Orphanet:364"} xref: ICD10CM:E74.0 {source="Orphanet:364/ntbt", source="Orphanet:364/inclusion", source="Orphanet:364"} xref: ICD10CM:E74.01 {source="MONDO:equivalentTo", source="DOID:2749"} xref: MedDRA:10018464 {source="Orphanet:364/e", source="Orphanet:364"} @@ -38153,6 +38214,7 @@ replaced_by: MONDO:0006375 id: MONDO:0002422 name: adamantinoma def: "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." [NCIT:C7644] +subset: gard_rare {source="GARD:16660"} subset: ordo_disease {source="Orphanet:55881"} synonym: "adamantinoma" EXACT [NCIT:C7644] synonym: "adamantinoma of long bone" RELATED [DOID:2775] @@ -38163,6 +38225,7 @@ synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644] synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location] xref: DOID:2775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2776 {source="MONDO:equivalentTo"} +xref: GARD:16660 {source="Orphanet:55881"} xref: ICD10CM:C40.2 {source="Orphanet:55881/index", source="Orphanet:55881/ntbt", source="Orphanet:55881", source="MONDO:directSiblingOf"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9261/3 {source="NCIT:C7644"} @@ -38323,6 +38386,7 @@ id: MONDO:0002429 name: idiopathic interstitial pneumonia def: "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." [Wikipedia:Idiopathic_interstitial_pneumonia] subset: disease_grouping +subset: gard_rare {source="GARD:13337"} subset: ordo_group_of_disorders {source="Orphanet:98300"} synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [DOID:2797] synonym: "idiopathic fibrosing alveolitis" EXACT [DOID:2797, ICD9CM:516.3] @@ -38331,6 +38395,7 @@ synonym: "IIp" EXACT [NCIT:C35714] synonym: "IPF" RELATED ABBREVIATION [DOID:2797] synonym: "noninfectious pneumonia" EXACT [Wikipedia:Idiopathic_interstitial_pneumonia] xref: DOID:2797 {source="MONDO:equivalentTo"} +xref: GARD:13337 {source="Orphanet:98300"} xref: ICD10CM:J84.11 {source="DOID:2797"} xref: ICD10CM:J84.112 {source="DOID:2797"} xref: ICD10CM:J84.114 {source="DOID:2797"} @@ -38573,7 +38638,7 @@ is_a: MONDO:0020115 {source="MONDO:Redundant", source="NCIT:C35434"} ! secondary id: MONDO:0002441 name: Jervell and Lange-Nielsen syndrome def: "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." [NCIT:P378] -subset: gard_rare +subset: gard_rare {source="GARD:3048"} subset: ordo_clinical_subtype {source="Orphanet:90647"} subset: prototype_pattern synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [GARD:0003048] @@ -38589,6 +38654,7 @@ synonym: "long QT interval-deafness syndrome" EXACT [Orphanet:90647] synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048] synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048] xref: DOID:2842 {source="MONDO:equivalentTo"} +xref: GARD:3048 {source="Orphanet:90647"} xref: ICD10CM:I45.8 {source="Orphanet:90647/attributed", source="Orphanet:90647/ntbt", source="Orphanet:90647"} xref: MedDRA:10057936 {source="Orphanet:90647/e", source="Orphanet:90647"} xref: MESH:D029593 {source="DOID:2842", source="MONDO:equivalentTo"} @@ -38872,6 +38938,7 @@ replaced_by: MONDO:0005131 id: MONDO:0002457 name: Treacher-Collins syndrome def: "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." [https://orcid.org/0000-0001-5208-3432, Orphanet:861] +subset: gard_rare {source="GARD:9124"} subset: ordo_malformation_syndrome {source="Orphanet:861"} subset: prototype_pattern synonym: "Franceschetti syndrome" EXACT [DOID:2908] @@ -38884,6 +38951,7 @@ synonym: "TCS" RELATED ABBREVIATION [GARD:0009124] synonym: "Treacher Collins syndrome" RELATED [DOID:2908] synonym: "Treacher-Collins syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:2908 {source="MONDO:equivalentTo"} +xref: GARD:9124 {source="Orphanet:861"} xref: ICD10CM:Q75.4 {source="DOID:2908", source="Orphanet:861/ntbt", source="Orphanet:861/inclusion", source="Orphanet:861"} xref: MedDRA:10051456 {source="Orphanet:861/e", source="Orphanet:861"} xref: MESH:D008342 {source="DOID:2908"} @@ -39182,7 +39250,6 @@ intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland id: MONDO:0002470 name: photosensitive trichothiodystrophy def: "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" [Wikipedia:Trichothiodystrophy#Photosensitive_forms] -subset: gard_rare synonym: "IBIDS syndrome" EXACT [DOID:2960, Orphanet:453] synonym: "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature" RELATED [GARD:0002944] synonym: "sulfur-deficient brittle hair syndrome" EXACT [DOID:2960] @@ -39279,10 +39346,12 @@ intersection_of: disease_has_feature HP:0000107 ! Renal cyst id: MONDO:0002474 name: primary hyperoxaluria def: "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." [NCIT:P378] +subset: gard_rare {source="GARD:16530"} subset: ordo_disease {source="Orphanet:416"} synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900] synonym: "primary hyperoxaluria" EXACT [MONDO:0018478] xref: DOID:2977 {source="MONDO:equivalentTo"} +xref: GARD:16530 {source="Orphanet:416"} xref: ICD10CM:E72.53 {source="DOID:2977"} xref: ICD10CM:E74.8 {source="Orphanet:416/ntbt", source="Orphanet:416/inclusion", source="Orphanet:416"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -40146,6 +40215,7 @@ id: MONDO:0002520 name: hepatic porphyria def: "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." [MESH:D017094] subset: disease_grouping +subset: gard_rare {source="GARD:19255"} subset: ordo_group_of_disorders {source="Orphanet:95157"} synonym: "acute hepatic porphyria" NARROW [NCIT:C133887] synonym: "acute porphyria" RELATED [DOID:3133, GTR:AN0932921] @@ -40158,6 +40228,7 @@ synonym: "porphobilinogen synthase deficiency" EXACT [NCIT:C133887] synonym: "porphyria of liver" EXACT [MONDO:design_pattern] synonym: "porphyria, hepatic" RELATED [MESH:D017094] xref: DOID:3133 {source="MONDO:equivalentTo"} +xref: GARD:19255 {source="Orphanet:95157"} xref: GTR:AN0932921 xref: ICD10CM:E80.2 {source="Orphanet:95157/inclusion", source="Orphanet:95157", source="Orphanet:95157/ntbt"} xref: MESH:D017094 {source="DOID:3133", source="MONDO:equivalentTo"} @@ -40246,6 +40317,7 @@ id: MONDO:0002525 name: inherited lipid metabolism disorder def: "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." [NCIT:C97092] subset: disease_grouping +subset: gard_rare {source="GARD:21314"} subset: ordo_group_of_disorders {source="Orphanet:309005"} synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707] synonym: "dyslipidaemia" BROAD OMO:0003005 [] @@ -40253,6 +40325,7 @@ synonym: "dyslipidemia" BROAD [DOID:3146] synonym: "fatty acid metabolism disorder" RELATED [DOID:3146] synonym: "lipid metabolism disorder" BROAD [DOID:3146] xref: DOID:3146 {source="MONDO:equivalentTo"} +xref: GARD:21314 {source="Orphanet:309005"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:272.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061227 {source="Orphanet:309005/e", source="Orphanet:309005"} @@ -40648,7 +40721,7 @@ intersection_of: disease_has_location UBERON:0002240 ! spinal cord id: MONDO:0002546 name: schwannoma def: "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:C3269] -subset: gard_rare {source="GARD:0004767"} +subset: gard_rare {source="GARD:4767"} subset: ordo_disease {source="Orphanet:252164"} synonym: "benign neurilemmoma" EXACT [MONDO:0004818, NCIT:C3269] synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269] @@ -40664,6 +40737,7 @@ synonym: "schwannoma, benign" EXACT [NCIT:C3269] xref: DOID:3192 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:955 {source="MONDO:equivalentTo"} xref: EFO:0000693 {source="MONDO:equivalentTo"} +xref: GARD:4767 {source="Orphanet:252164"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9560/0 {source="NCIT:C3269"} xref: MedDRA:10029234 {source="Orphanet:252164", source="Orphanet:252164/e"} @@ -40962,6 +41036,7 @@ id: MONDO:0002561 name: lysosomal storage disease def: "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." [PMID:21723623] subset: disease_grouping +subset: gard_rare {source="GARD:18884"} subset: ordo_group_of_disorders {source="Orphanet:68366"} synonym: "disorder of lysosomal enzyme" EXACT [DOID:3211] synonym: "disorder of lysosomal enzymes" EXACT [NCIT:C61250] @@ -40974,6 +41049,7 @@ synonym: "lysosome disease" EXACT [] synonym: "lysosome disorder" EXACT [] synonym: "phospholipidosis" RELATED [NCIT:C61250] xref: DOID:3211 {source="MONDO:equivalentTo"} +xref: GARD:18884 {source="Orphanet:68366"} xref: MESH:D016464 {source="DOID:3211", source="MONDO:equivalentTo"} xref: NCIT:C61250 {source="DOID:3211", source="MONDO:equivalentTo"} xref: Orphanet:68366 {source="MONDO:equivalentTo"} @@ -41051,7 +41127,6 @@ intersection_of: disease_has_location UBERON:0002115 ! jejunum id: MONDO:0002565 name: myelitis def: "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." [NCIT:P378] -subset: gard_rare {source="GARD:0007130"} synonym: "inflammation of spinal cord" EXACT [] synonym: "spinal cord inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:322 {source="MONDO:equivalentTo"} @@ -41133,6 +41208,7 @@ id: MONDO:0002571 name: primary central nervous system lymphoma alt_id: MONDO:0018732 def: "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." [NCIT:C9301] +subset: gard_rare {source="GARD:9318"} subset: ordo_disease {source="Orphanet:46135"} synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301] synonym: "CNS lymphoma" EXACT [NCIT:C9301] @@ -41147,6 +41223,7 @@ synonym: "primary CNS lymphoma" EXACT [DOID:3234, NCIT:C9301, Orphanet:46135] synonym: "primary lymphoma, CNS" RELATED [GARD:0009318] xref: DOID:3234 {source="MONDO:equivalentTo"} xref: EFO:1000157 {source="MONDO:equivalentTo"} +xref: GARD:9318 {source="Orphanet:46135"} xref: ICD10CM:C83.3 {source="Orphanet:46135/ntbt", source="Orphanet:46135"} xref: ICD9:200.5 {source="DOID:3234"} xref: MedDRA:10036685 {source="Orphanet:46135/e", source="Orphanet:46135"} @@ -41449,6 +41526,7 @@ is_a: MONDO:0006456 {source="DOID:3278", source="NCIT:C7386"} ! thymoma id: MONDO:0002588 name: thymoma type A def: "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." [NCIT:C6454] +subset: gard_rare {source="GARD:20892"} subset: ordo_histopathological_subtype {source="Orphanet:263310"} synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454] synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310] @@ -41458,6 +41536,7 @@ synonym: "spindle cell thymoma" EXACT [NCIT:C6454] synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454] synonym: "thymoma, medullary" EXACT [DOID:3279] xref: DOID:3279 {source="MONDO:equivalentTo"} +xref: GARD:20892 {source="Orphanet:263310"} xref: ICD10CM:C37 {source="Orphanet:263310/ntbt", source="Orphanet:263310"} xref: ICD10CM:D15.0 {source="Orphanet:263310/ntbt", source="MONDO:relatedTo", source="Orphanet:263310"} xref: ICDO:8581/1 {source="NCIT:C6454"} @@ -41512,7 +41591,6 @@ replaced_by: MONDO:0020515 id: MONDO:0002594 name: monkeypox def: "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." [NCIT:C128421] -subset: gard_rare {source="GARD:0010722"} synonym: "infections, Monkeypox virus" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Monkeypox virus infection" EXACT [GARD:0010722, MONDO:patterns/infectious_disease_by_agent] xref: DOID:3292 {source="MONDO:equivalentTo"} @@ -42131,6 +42209,7 @@ is_a: MONDO:0002629 {source="DOID:3374", source="NCIT:C7134/inferred"} ! bone os id: MONDO:0002629 name: bone osteosarcoma def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C53707] +subset: gard_rare {source="GARD:7284"} subset: ordo_disease {source="Orphanet:668"} synonym: "bone osteosarcoma" EXACT [NCIT:C53707] synonym: "osteosarcoma of bone" EXACT [NCIT:C53707] @@ -42138,6 +42217,7 @@ synonym: "osteosarcoma, somatic" EXACT [OMIM:259500, OMIM:genemap2] synonym: "osteosarcoma, somatic mutation" EXACT [OMIM:259500, OMIM:genemap2] synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834] xref: DOID:3376 {source="MONDO:equivalentTo"} +xref: GARD:7284 {source="Orphanet:668"} xref: ICD10CM:C41.9 {source="Orphanet:668/ntbt", source="Orphanet:668"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10031291 {source="Orphanet:668", source="Orphanet:668/e"} @@ -42682,6 +42762,7 @@ intersection_of: disease_has_location UBERON:0001245 ! anus id: MONDO:0002653 name: Paget disease of the penis def: "A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" [NCIT:C27817] +subset: gard_rare {source="GARD:21638"} subset: ordo_disease {source="Orphanet:398053"} synonym: "adenocarcinoma of penis" EXACT [MONDO:0018351] synonym: "adenocarcinoma of the penis" RELATED [Orphanet:398053] @@ -42694,6 +42775,7 @@ synonym: "penis mammary Paget's disease" EXACT [MONDO:patterns/location] synonym: "penis Paget disease" EXACT [DOID:3448, MONDO:patterns/location] synonym: "penis Paget's disease" RELATED [DOID:3448] xref: DOID:3448 {source="MONDO:equivalentTo"} +xref: GARD:21638 {source="Orphanet:398053"} xref: ICD10CM:C60.0 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} xref: ICD10CM:C60.1 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} xref: ICD10CM:C60.2 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} @@ -43240,7 +43322,6 @@ property_value: IAO:0000233 "https://github.com/NCI-Thesaurus/thesaurus-obo-edit id: MONDO:0002682 name: cerebral ventricle cancer def: "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." [NCIT:C2937] -subset: gard_rare {source="GARD:0006025"} synonym: "brain neoplasms, intraventricular" EXACT [NCIT:C2937] synonym: "brain ventricle cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brain ventricle" EXACT [MONDO:patterns/cancer] @@ -43305,6 +43386,7 @@ relationship: excluded_subClassOf MONDO:0002681 {source="DOID:3542"} ! choroid p id: MONDO:0002684 name: atypical choroid plexus papilloma def: "A choroid plexus papilloma characterized by increased mitotic activity." [NCIT:C53686] +subset: gard_rare {source="GARD:20723"} subset: ordo_disease {source="Orphanet:251902"} synonym: "ACPP" RELATED ABBREVIATION [ONCOTREE:ACPP] synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, NCIT:C53686, NCIT:C8382, Orphanet:251902] @@ -43312,6 +43394,7 @@ synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DO synonym: "atypical CPP" EXACT [Orphanet:251902] synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720] xref: DOID:3544 {source="MONDO:equivalentTo"} +xref: GARD:20723 {source="Orphanet:251902"} xref: ICD10CM:C71.5 {source="Orphanet:251902/ntbt", source="Orphanet:251902"} xref: ICDO:9390/1 {source="NCIT:C53686"} xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -43351,7 +43434,7 @@ replaced_by: MONDO:0019024 id: MONDO:0002687 name: superior mesenteric artery syndrome def: "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." [https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome] -subset: gard_rare {source="GARD:0007712"} +subset: gard_rare {source="GARD:7712"} synonym: "Arteriomesenteric duodenal compression syndrome" RELATED [GARD:0007712] synonym: "Cast syndrome" RELATED [GARD:0007712] synonym: "superior mesenteric artery syndrome" EXACT [DOID:3557] @@ -43361,6 +43444,7 @@ synonym: "vascular compression of the duodenum" RELATED [GARD:0007712] synonym: "Wilkie syndrome" RELATED [GARD:0007712] xref: DOID:3557 {source="MONDO:equivalentTo"} xref: EFO:1001201 {source="MONDO:equivalentTo"} +xref: GARD:7712 {source="Orphanet:622099"} xref: MESH:D013478 {source="DOID:3557", source="MONDO:equivalentTo"} xref: NCIT:C85175 {source="DOID:3557", source="MONDO:equivalentTo"} xref: Orphanet:622099 {source="MONDO:equivalentTo"} @@ -43522,6 +43606,7 @@ is_a: MONDO:0006055 {source="DOID:3577/inferred", source="NCIT:C39976"} ! sex co id: MONDO:0002697 name: ovarian gonadoblastoma def: "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." [NCIT:C39985] +subset: gard_rare {source="GARD:17100"} synonym: "GBY" BROAD ABBREVIATION [OMIM:424500] synonym: "gonadoblastoma" BROAD [OMIM:424500] synonym: "gonadoblastoma of ovary" EXACT [MONDO:design_pattern] @@ -43530,6 +43615,7 @@ synonym: "ovarian gonadoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6 synonym: "ovary gonadoblastoma" EXACT [MONDO:patterns/location] xref: DOID:3578 {source="MONDO:equivalentTo"} xref: EFO:1000420 {source="MONDO:equivalentTo"} +xref: GARD:17100 {source="Orphanet:206484"} xref: HP:0000149 {source="MONDO:otherHierarchy"} xref: NCIT:C39985 {source="MONDO:equivalentTo", source="DOID:3578"} xref: OMIM:424500 {source="Orphanet:206484/e", source="DOID:3301", source="MONDO:equivalentTo", source="Orphanet:206484"} @@ -43954,6 +44040,7 @@ relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3639"} ! spinal co id: MONDO:0002718 name: central nervous system teratoma def: "A mature or immature teratoma that affects the central nervous system." [NCIT:C5441] +subset: gard_rare {source="GARD:20735"} subset: ordo_clinical_subtype {source="Orphanet:252018"} synonym: "central nervous system teratoma" EXACT [MONDO:patterns/location, NCIT:C5441] synonym: "CNS teratoma" EXACT [DOID:3640, NCIT:C5441] @@ -43962,6 +44049,7 @@ synonym: "teratoma of CNS" EXACT [NCIT:C5441] synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441] synonym: "teratoma of the CNS" EXACT [NCIT:C5441] xref: DOID:3640 {source="MONDO:equivalentTo"} +xref: GARD:20735 {source="Orphanet:252018"} xref: NCIT:C5441 {source="DOID:3640", source="MONDO:equivalentTo"} xref: Orphanet:252018 {source="MONDO:equivalentTo"} xref: UMLS:C1332895 {source="DOID:3640", source="NCIT:C5441", source="MONDO:equivalentTo"} @@ -44162,6 +44250,7 @@ relationship: excluded_subClassOf MONDO:0002639 {source="DOID:367"} ! glossophar id: MONDO:0002728 name: rhabdoid tumor def: "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." [NCIT:C3808] +subset: gard_rare {source="GARD:7572"} subset: ordo_disease {source="Orphanet:69077"} synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548, Orphanet:69077] synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 [] @@ -44170,6 +44259,7 @@ synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808] synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808] xref: DOID:3672 {source="MONDO:equivalentTo"} xref: EFO:0005701 {source="MONDO:equivalentTo"} +xref: GARD:7572 {source="Orphanet:69077"} xref: ICD10CM:C49.9 {source="Orphanet:69077", source="Orphanet:69077/ntbt"} xref: ICDO:8963/3 {source="NCIT:C3808"} xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="Orphanet:69077", source="Orphanet:69077/e"} @@ -44354,6 +44444,7 @@ intersection_of: disease_has_location UBERON:0001245 ! anus id: MONDO:0002735 name: anal canal adenocarcinoma def: "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding." [NCIT:C7471] +subset: gard_rare {source="GARD:21773"} subset: ordo_disease {source="Orphanet:424016"} synonym: "adenocarcinoma arising in anal mucosa" EXACT [NCIT:C7471] synonym: "adenocarcinoma arising in the anal mucosa" EXACT [NCIT:C7471] @@ -44362,6 +44453,7 @@ synonym: "adenocarcinoma of the anal canal" EXACT [DOID:3692, MONDO:0018518, NCI synonym: "anal canal adenocarcinoma" EXACT [MONDO:ambiguous, MONDO:patterns/location, NCIT:C7471] synonym: "anal canal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3692 {source="MONDO:equivalentTo"} +xref: GARD:21773 {source="Orphanet:424016"} xref: HP:0030439 {source="MONDO:otherHierarchy"} xref: ICD10CM:C21.1 {source="Orphanet:424016", source="Orphanet:424016/ntbt"} xref: NCIT:C7471 {source="MONDO:equivalentTo", source="DOID:3692"} @@ -44649,6 +44741,7 @@ intersection_of: disease_has_location UBERON:0001255 ! urinary bladder id: MONDO:0002752 name: ovarian adenocarcinoma def: "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." [NCIT:C7700] +subset: gard_rare {source="GARD:20466"} subset: ordo_disease {source="Orphanet:213504"} synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700] synonym: "adenocarcinoma of the ovary" EXACT [DOID:3713, NCIT:C7700] @@ -44657,6 +44750,7 @@ synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, O synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3713 {source="MONDO:equivalentTo"} xref: EFO:0006460 {source="MONDO:equivalentTo"} +xref: GARD:20466 {source="Orphanet:213504"} xref: ICD10CM:C56 {source="Orphanet:213504", source="Orphanet:213504/ntbt"} xref: MedDRA:10051938 {source="Orphanet:213504", source="Orphanet:213504/e"} xref: NCIT:C7700 {source="MONDO:equivalentTo", source="DOID:3713", source="EFO:0006460"} @@ -45137,7 +45231,6 @@ relationship: disease_has_feature HP:0001324 ! Muscle weakness id: MONDO:0002783 name: Shwartzman phenomenon def: "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." [MESH:D012790] -subset: gard_rare {source="GARD:0007636"} synonym: "Shwartzman reaction" EXACT [DOID:3825] synonym: "Shwartzman reaction (function)" EXACT [DOID:3825] xref: DOID:3825 {source="MONDO:equivalentTo"} @@ -45387,7 +45480,6 @@ is_a: MONDO:0007959 {source="DOID:3868", source="NCIT:C9497"} ! medulloblastoma id: MONDO:0002797 name: childhood medulloblastoma def: "A medulloblastoma occurring in children." [NCIT:C3997] -subset: gard_rare {source="GARD:0009350"} synonym: "childhood medulloblastoma" EXACT [NCIT:C3997] synonym: "medulloblastoma" BROAD [NCIT:C3997] synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -45481,7 +45573,6 @@ is_a: MONDO:0004625 {source="DOID:3875", source="MESH:D013924"} ! phlebitis id: MONDO:0002801 name: colonic pseudo-obstruction def: "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [MESH:D003112] -subset: gard_rare synonym: "ACPO" RELATED ABBREVIATION [GARD:0007248] synonym: "acute colonic ileus" RELATED [GARD:0007248] synonym: "acute colonic pseudo-obstruction" RELATED [GARD:0007248] @@ -45510,7 +45601,6 @@ is_a: MONDO:0003409 {source="DOID:3877", source="MESH:D003109"} ! colonic disord id: MONDO:0002803 name: intestinal pseudo-obstruction def: "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." [https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction] -subset: gard_rare {source="GARD:0006789"} synonym: "hollow visceral myopathy" RELATED [GARD:0006789] synonym: "intestinal pseudo-obstruction" EXACT [DOID:3878, NCIT:C34733] synonym: "intestinal pseudoobstruction" RELATED [GARD:0006789] @@ -45795,7 +45885,6 @@ intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex id: MONDO:0002817 name: adrenal gland cancer def: "A malignant neoplasm involving the adrenal gland" [https://orcid.org/0000-0002-6601-2165] -subset: gard_rare synonym: "adrenal cancer" EXACT [DOID:3953, NCIT:C9338] synonym: "adrenal gland cancer" EXACT [MONDO:patterns/location] synonym: "adrenal neoplasm" BROAD [DOID:3953] @@ -46731,6 +46820,7 @@ is_a: MONDO:0024610 {source="MESH:D004478"} ! parasitic skin disorder id: MONDO:0002876 name: cervical adenosarcoma def: "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." [NCIT:C40229] +subset: gard_rare {source="GARD:20492"} subset: ordo_disease {source="Orphanet:213792"} synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279] synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern] @@ -46740,6 +46830,7 @@ synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229] synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229] synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4111 {source="MONDO:equivalentTo"} +xref: GARD:20492 {source="Orphanet:213792"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213792/btnt", source="Orphanet:213792"} xref: ICD10CM:C53.1 {source="Orphanet:213792/btnt", source="Orphanet:213792"} xref: ICD10CM:C53.8 {source="Orphanet:213792/btnt", source="Orphanet:213792"} @@ -46758,6 +46849,7 @@ relationship: excluded_subClassOf MONDO:0002877 {source="DOID:4111"} ! cervical id: MONDO:0002877 name: cervical carcinosarcoma def: "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." [NCIT:P378] +subset: gard_rare {source="GARD:20491"} subset: ordo_disease {source="Orphanet:213787"} synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278] synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787] @@ -46780,6 +46872,7 @@ synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet: synonym: "malignant Müllerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4112 {source="MONDO:equivalentTo"} +xref: GARD:20491 {source="Orphanet:213787"} xref: ICD10CM:C53 {source="Orphanet:213787/ntbt", source="Orphanet:213787"} xref: NCIT:C36097 {source="DOID:4112", source="MONDO:equivalentTo"} xref: NCIT:C40226 {source="DOID:4112"} @@ -46800,6 +46893,7 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0002878 name: uterine corpus adenosarcoma def: "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." [NCIT:C6336] +subset: gard_rare {source="GARD:20473"} subset: ordo_disease {source="Orphanet:213600"} synonym: "adenosarcoma of body of uterus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the body of uterus" EXACT [NCIT:C6336] @@ -46818,6 +46912,7 @@ synonym: "uterine corpus Mullerian adenosarcoma" EXACT [NCIT:C6336] synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336] synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336] xref: DOID:4113 {source="MONDO:equivalentTo"} +xref: GARD:20473 {source="Orphanet:213600"} xref: ICD10CM:C54.2 {source="Orphanet:213600/ntbt", source="Orphanet:213600"} xref: MESH:C538232 {source="MONDO:equivalentTo"} xref: NCIT:C6336 {source="DOID:4113", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -46924,6 +47019,7 @@ relationship: excluded_subClassOf MONDO:0006488 {source="DOID:4117"} ! vaginal c id: MONDO:0002882 name: colon neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5697] +subset: gard_rare {source="GARD:19755"} synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697] synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] @@ -46937,6 +47033,7 @@ synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697] synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080] synonym: "neuroendocrine tumour of the colon" RELATED OMO:0003005 [] xref: DOID:4118 {source="MONDO:equivalentTo"} +xref: GARD:19755 {source="Orphanet:100080"} xref: NCIT:C5697 {source="DOID:4118", source="MONDO:equivalentTo"} xref: Orphanet:100080 {source="MONDO:equivalentTo"} xref: UMLS:C1333097 {source="DOID:4118", source="MONDO:equivalentTo", source="NCIT:C5697"} @@ -47444,7 +47541,6 @@ intersection_of: disease_has_location UBERON:0002298 ! brainstem id: MONDO:0002912 name: brainstem cancer def: "A primary or metastatic malignant neoplasm that affects the brain stem." [NCIT:C3570] -subset: gard_rare {source="GARD:0008244"} synonym: "brain stem cancer" RELATED [DOID:4203, GARD:0008244] synonym: "brainstem cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer] @@ -48272,6 +48368,7 @@ is_a: MONDO:0005341 {source="DOID:4300", source="NCIT:C4108/inferred"} ! skin ba id: MONDO:0002955 name: vulva basal cell carcinoma def: "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." [NCIT:C6381] +subset: gard_rare {source="GARD:22006"} synonym: "basal cell carcinoma of the vulva" EXACT [DOID:4301, NCIT:C6381] synonym: "basal cell carcinoma of vulva" EXACT [DOID:4301, NCIT:C6381] synonym: "mammalian vulva skin basal cell carcinoma" EXACT [MONDO:patterns/location] @@ -48279,6 +48376,7 @@ synonym: "skin basal cell carcinoma of mammalian vulva" EXACT [MONDO:design_patt synonym: "vulvar basal cell cancer" EXACT [NCIT:C6381] synonym: "vulvar basal cell carcinoma" EXACT [NCIT:C6381] xref: DOID:4301 {source="MONDO:equivalentTo"} +xref: GARD:22006 {source="Orphanet:494451"} xref: NCIT:C6381 {source="DOID:4301", source="MONDO:equivalentTo"} xref: Orphanet:494451 {source="MONDO:equivalentTo"} xref: SCTID:717731002 {source="MONDO:equivalentTo"} @@ -48845,7 +48943,6 @@ is_a: MONDO:0002406 {source="DOID:4406", source="NCIT:C27037"} ! dermatitis id: MONDO:0002988 name: cervix melanoma def: "An aggressive malignant tumor of melanocytic origin that arises from the cervix." [NCIT:P378] -subset: gard_rare synonym: "cervical melanoma" EXACT [NCIT:C40239] synonym: "melanoma of the cervix" EXACT [NCIT:C40239] synonym: "primary malignant melanoma of the cervix uteri" RELATED [GARD:0009664] @@ -49198,7 +49295,6 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0003008 name: hereditary renal cell carcinoma def: "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare {source="GARD:0009571"} synonym: "familial renal carcinoma" RELATED [MESH:C536851] synonym: "hereditary renal carcinoma" RELATED [] synonym: "hereditary renal cell cancer" EXACT [NCIT:C39789] @@ -49243,6 +49339,7 @@ is_a: MONDO:0006640 {source="DOID:446", source="MESH:D006929"} ! adrenal gland h id: MONDO:0003010 name: multilocular clear cell renal cell carcinoma def: "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." [NCIT:C4524] +subset: gard_rare {source="GARD:21417"} subset: ordo_histopathological_subtype {source="Orphanet:319287"} synonym: "cystadenocarcinoma of kidney" EXACT [DOID:4463] synonym: "MCRCC" EXACT ABBREVIATION [Orphanet:319287] @@ -49257,6 +49354,7 @@ synonym: "multilocular cystic renal cell carcinoma" EXACT [NCIT:C4524, Orphanet: synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [Orphanet:319287] synonym: "renal cystadenocarcinoma" EXACT [DOID:4463, NCIT:C4524] xref: DOID:4463 {source="MONDO:equivalentTo"} +xref: GARD:21417 {source="Orphanet:319287"} xref: ICD10CM:C64 {source="Orphanet:319287", source="Orphanet:319287/ntbt"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8316/3 {source="NCIT:C4524"} @@ -49271,12 +49369,14 @@ is_a: MONDO:0005549 {source="MONDO:0003010/inferred", source="MONDO:Redundant", id: MONDO:0003011 name: mucinous tubular and spindle renal cell carcinoma def: "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." [NCIT:C39807] +subset: gard_rare {source="GARD:21418"} subset: ordo_disease {source="Orphanet:319322"} synonym: "carcinoma, renal, tubular, malignant" EXACT [NCIT:C39807] synonym: "mucinous tubular and spindle cell carcinoma of the kidney" EXACT [NCIT:C39807] synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889] synonym: "renal mucinous tubular spindle cell carcinoma" RELATED [ONCOTREE:MTSCC] xref: DOID:4472 {source="MONDO:equivalentTo"} +xref: GARD:21418 {source="Orphanet:319322"} xref: ICD10CM:C64 {source="Orphanet:319322/ntbt", source="Orphanet:319322"} xref: ICDO:0000/0 {source="NCIT:C39807"} xref: NCIT:C39807 {source="MONDO:equivalentTo", source="DOID:4472"} @@ -49463,7 +49563,6 @@ intersection_of: disease_has_location UBERON:0000947 ! aorta id: MONDO:0003024 name: breast angiosarcoma def: "A malignant vascular neoplasm arising from the breast." [NCIT:C5184] -subset: gard_rare {source="GARD:0009974"} synonym: "angiosarcoma (disease) of breast" EXACT [] synonym: "angiosarcoma of breast" EXACT [NCIT:C5184] synonym: "angiosarcoma of the breast" EXACT [NCIT:C5184] @@ -49696,7 +49795,6 @@ id: MONDO:0003036 name: mucoepidermoid carcinoma def: "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." [NCIT:C3772] comment: Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes -subset: gard_rare {source="GARD:0010671"} synonym: "MEC" EXACT ABBREVIATION [DOID:4531, NCIT:C3772] synonym: "MUCC" RELATED ABBREVIATION [ONCOTREE:MUCC] synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772] @@ -50120,7 +50218,6 @@ intersection_of: disease_has_location UBERON:0002394 ! bile duct id: MONDO:0003060 name: biliary tract cancer def: "A malignant neoplasm involving the biliary tree" [https://orcid.org/0000-0002-6601-2165] -subset: gard_rare {source="GARD:0005924"} synonym: "biliary tree cancer" EXACT [MONDO:patterns/location] synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer] @@ -50964,6 +51061,7 @@ id: MONDO:0003111 name: gastric neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5696] comment: Some subtypes are malignant. +subset: gard_rare {source="GARD:19750"} synonym: "gastric neuroendocrine neoplasm" EXACT [NCIT:C5696] synonym: "NET of stomach" EXACT [Orphanet:100075] synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5696] @@ -50978,6 +51076,7 @@ synonym: "stomach neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:pa synonym: "stomach neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4715 {source="MONDO:equivalentTo"} +xref: GARD:19750 {source="Orphanet:100075"} xref: NCIT:C5696 {source="MONDO:equivalentTo", source="DOID:4715", source="MONDO:exact-label-match"} xref: Orphanet:100075 {source="MONDO:equivalentTo"} xref: SCTID:721194008 {source="MONDO:equivalentTo"} @@ -51224,6 +51323,7 @@ intersection_of: disease_has_location UBERON:0000473 ! testis id: MONDO:0003125 name: testicular sex cord-stromal neoplasm def: "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." [NCIT:C6358] +subset: gard_rare {source="GARD:21551"} subset: ordo_disease {source="Orphanet:363489"} synonym: "sex cord-stromal neoplasm" RELATED [DOID:4757] synonym: "sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358] @@ -51238,6 +51338,7 @@ synonym: "testicular sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location] synonym: "testis sex cord-stromal tumour" EXACT OMO:0003005 [] xref: DOID:4757 {source="MONDO:equivalentTo"} +xref: GARD:21551 {source="Orphanet:363489"} xref: ICD10CM:C62.1 {source="Orphanet:363489", source="Orphanet:363489/ntbt"} xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"} xref: Orphanet:363489 {source="MONDO:equivalentTo"} @@ -51387,7 +51488,6 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0003139 name: mesangial proliferative glomerulonephritis def: "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure." [https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis] -subset: gard_rare {source="GARD:0009580"} synonym: "glomerulonephritis - mesangial proliferative" RELATED [GARD:0009580] synonym: "mesangial proliferative GN" RELATED [GARD:0009580] synonym: "Mesangioproliferative glomerulonephritis" RELATED [GARD:0009580] @@ -51498,6 +51598,7 @@ is_a: MONDO:0003110 {source="DOID:479"} ! skin hemangioma id: MONDO:0003144 name: medulloepithelioma def: "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting." [NCIT:C4327] +subset: gard_rare {source="GARD:20721"} subset: ordo_disease {source="Orphanet:251883"} synonym: "central nervous system medulloepithelioma" EXACT [NCIT:C4327] synonym: "Diktyoma, malignant" EXACT [DOID:4790] @@ -51506,6 +51607,7 @@ synonym: "medulloepithelioma NOS (morphologic abnormality)" EXACT [DOID:4790] synonym: "medulloepithelioma of the central nervous system" EXACT [MONDO:0016716] synonym: "medulloepithelioma, central nervous system" EXACT [DOID:4790, NCIT:C4327] xref: DOID:4790 {source="MONDO:equivalentTo"} +xref: GARD:20721 {source="Orphanet:251883"} xref: MESH:D018242 {source="DOID:4790"} xref: NCIT:C4327 {source="MONDO:equivalentTo", source="DOID:4790"} xref: NCIT:C66808 {source="DOID:4790"} @@ -51712,7 +51814,6 @@ relationship: disease_has_feature HP:0002797 ! Osteolysis id: MONDO:0003158 name: malignant myoepithelioma def: "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C7596] -subset: gard_rare {source="GARD:0010558"} synonym: "malignant myoepithelioma" EXACT [GARD:0010558, NCIT:C7596] synonym: "myoepithelial carcinoma" EXACT [NCIT:C7596] synonym: "myoepithelioma carcinoma" RELATED [GARD:0010558] @@ -52126,7 +52227,6 @@ intersection_of: disease_has_location UBERON:0003126 ! trachea id: MONDO:0003185 name: adenoid cystic breast carcinoma def: "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130] -subset: gard_rare {source="GARD:0012774"} subset: ordo_disease {source="Orphanet:213557"} synonym: "adenocystic breast carcinoma" EXACT [NCIT:C5130] synonym: "adenocystic carcinoma of breast" EXACT [NCIT:C5130] @@ -52348,6 +52448,7 @@ intersection_of: MONDO:0006235 ! granular cell tumor id: MONDO:0003198 name: small intestine adenocarcinoma def: "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888] +subset: gard_rare {source="GARD:19851"} subset: ordo_disease {source="Orphanet:104075"} synonym: "adenocarcinoma - small intest." EXACT [NCIT:C7888] synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888, Orphanet:104075] @@ -52361,6 +52462,7 @@ synonym: "small intestinal adenocarcinoma" EXACT [DOID:4906, MONDO:0006415, NCIT synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:4906 {source="MONDO:equivalentTo"} xref: EFO:1000532 {source="MONDO:equivalentTo"} +xref: GARD:19851 {source="Orphanet:104075"} xref: ICD10CM:D01.4 {source="Orphanet:104075", source="Orphanet:104075/ntbt"} xref: NCIT:C7888 {source="MONDO:equivalentTo", source="DOID:4906"} xref: Orphanet:104075 {source="MONDO:equivalentTo"} @@ -52501,7 +52603,6 @@ replaced_by: MONDO:0024240 id: MONDO:0003208 name: breast secretory carcinoma def: "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." [NCIT:C4189] -subset: gard_rare {source="GARD:0009408"} synonym: "cystic hypersecretory breast carcinoma" EXACT [NCIT:C4189] synonym: "cystic hypersecretory carcinoma of breast" EXACT [NCIT:C4189] synonym: "cystic hypersecretory carcinoma of the breast" EXACT [NCIT:C4189] @@ -52555,7 +52656,6 @@ intersection_of: disease_has_location UBERON:0002370 ! thymus id: MONDO:0003210 name: intrahepatic cholangiocarcinoma def: "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C35417] -subset: gard_rare {source="GARD:0006042"} synonym: "cholangiocarcinoma, intrahepatic, malignant" EXACT [NCIT:C35417] synonym: "ICC" EXACT ABBREVIATION [NCIT:C35417] synonym: "IHCH" RELATED ABBREVIATION [ONCOTREE:IHCH] @@ -53659,6 +53759,7 @@ id: MONDO:0003266 name: ependymal tumor def: "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" [NCIT:C6770] subset: disease_grouping +subset: gard_rare {source="GARD:16527"} subset: ordo_group_of_disorders {source="Orphanet:301"} synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770] synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770] @@ -53667,6 +53768,7 @@ synonym: "ependymal tumours" EXACT OMO:0003005 [] synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT] synonym: "ependymomal tumour" RELATED OMO:0003005 [] xref: EFO:1000027 {source="MONDO:equivalentTo"} +xref: GARD:16527 {source="Orphanet:301"} xref: ICD10CM:C71.7 {source="Orphanet:301", source="Orphanet:301/ntbt"} xref: NCIT:C6770 {source="MONDO:equivalentTo"} xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"} @@ -54840,7 +54942,6 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0003336 name: acute necrotizing encephalitis def: "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" [MESH:D004684] -subset: gard_rare synonym: "acute necrotizing encephalitis" EXACT [GARD:0013233] synonym: "acute necrotizing encephalopathy" RELATED [GARD:0013233] synonym: "ANE" RELATED ABBREVIATION [GARD:0013233] @@ -54962,7 +55063,7 @@ replaced_by: MONDO:0016748 id: MONDO:0003345 name: hilar cholangiocarcinoma def: "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." [NCIT:C36077] -subset: gard_rare +subset: gard_rare {source="GARD:10175"} subset: ordo_disease {source="Orphanet:99978"} synonym: "cholangiocarcinoma of hilar portion of hepatic duct" EXACT [MONDO:design_pattern] synonym: "hilar CC" EXACT [NCIT:C36077] @@ -54979,6 +55080,7 @@ synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C58 xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"} xref: DOID:5246 {source="MONDO:equivalentObsolete"} xref: EFO:1001005 {source="MONDO:equivalentTo"} +xref: GARD:10175 {source="Orphanet:99978"} xref: ICD10CM:C24.0 {source="Orphanet:99978", source="Orphanet:99978/ntbt"} xref: MESH:D018285 {source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927", source="Orphanet:99978/e"} xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"} @@ -55207,6 +55309,7 @@ is_a: MONDO:0005058 {source="DOID:5268", source="NCIT:C3701"} ! leiomyosarcoma id: MONDO:0003360 name: small intestine leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7085] +subset: gard_rare {source="GARD:19852"} subset: ordo_disease {source="Orphanet:104076"} synonym: "leiomyosarcoma of small bowel" EXACT [NCIT:C7085] synonym: "leiomyosarcoma of small intestine" EXACT [MONDO:0015190, NCIT:C7085] @@ -55218,6 +55321,7 @@ synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271] synonym: "smooth muscle connective tissue tumour" RELATED OMO:0003005 [] xref: DOID:5271 {source="MONDO:equivalentTo"} +xref: GARD:19852 {source="Orphanet:104076"} xref: ICD10CM:C17.0 {source="Orphanet:104076/btnt", source="Orphanet:104076"} xref: ICD10CM:C17.1 {source="Orphanet:104076/btnt", source="Orphanet:104076"} xref: ICD10CM:C17.2 {source="Orphanet:104076/btnt", source="Orphanet:104076"} @@ -55978,7 +56082,6 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0003402 name: testicular yolk sac tumor def: "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." [NCIT:C8000] -subset: gard_rare synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000] synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000] @@ -56270,6 +56373,7 @@ intersection_of: disease_has_location UBERON:0002073 ! hair follicle id: MONDO:0003414 name: skin pilomatrix carcinoma def: "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." [NCIT:P378] +subset: gard_rare {source="GARD:22042"} subset: mondo_rare {source="https://orcid.org/0000-0002-6195-6976"} subset: ordo_disease synonym: "calcified epithelial carcinoma of Malherbe" EXACT [Orphanet:499182] @@ -56285,6 +56389,7 @@ synonym: "pilomatrix carcinoma of the skin" EXACT [NCIT:C4114] synonym: "pilomatrix skin carcinoma" EXACT [NCIT:C4114] synonym: "Trichomatrical carcinoma" EXACT [Orphanet:499182] xref: DOID:5376 {source="MONDO:equivalentTo"} +xref: GARD:22042 {source="Orphanet:499182"} xref: ICD10CM:C44.3 {source="Orphanet:499182"} xref: ICD10CM:C44.4 {source="Orphanet:499182"} xref: ICDO:8110/3 {source="NCIT:C4114"} @@ -56509,6 +56614,7 @@ id: MONDO:0003429 name: functioning pituitary gland adenoma def: "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." [NCIT:C8388] subset: disease_grouping +subset: gard_rare {source="GARD:21389"} subset: ordo_group_of_disorders {source="Orphanet:314753"} synonym: "endocrine active pituitary adenoma" EXACT [Orphanet:314753] synonym: "functioning adenoma of pituitary" EXACT [NCIT:C8388] @@ -56526,6 +56632,7 @@ synonym: "secretory adenoma of the pituitary gland" EXACT [DOID:5395, NCIT:C8388 synonym: "secretory pituitary adenoma" EXACT [NCIT:C8388] synonym: "secretory pituitary gland adenoma" EXACT [NCIT:C8388] xref: DOID:5395 {source="MONDO:equivalentTo"} +xref: GARD:21389 {source="Orphanet:314753"} xref: NCIT:C8388 {source="MONDO:equivalentTo", source="DOID:5395"} xref: Orphanet:314753 {source="MONDO:equivalentTo"} xref: UMLS:C0854486 {source="Orphanet:314753", source="NCIT:C8388", source="MONDO:equivalentTo", source="DOID:5395"} @@ -56908,7 +57015,6 @@ replaced_by: MONDO:0006439 id: MONDO:0003450 name: eccrine papillary adenoma def: "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." [NCIT:P378] -subset: gard_rare {source="GARD:0010463"} synonym: "eccrine papillary adenoma of skin" EXACT [DOID:5446] synonym: "Papillary eccrine adenoma" EXACT [NCIT:C4173] xref: DOID:5446 {source="MONDO:equivalentTo"} @@ -58695,7 +58801,6 @@ intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland id: MONDO:0003556 name: endometrial adenosquamous carcinoma def: "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." [NCIT:P378] -subset: gard_rare synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631, NCIT:C6290] synonym: "adenosquamous carcinoma of the endometrium" RELATED [GARD:0013107] synonym: "endometrial adenosquamous cancer" RELATED [GARD:0013107] @@ -59111,6 +59216,7 @@ id: MONDO:0003582 name: hereditary breast ovarian cancer syndrome def: "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." [NCIT:C8493] subset: clingen +subset: gard_rare {source="GARD:15010"} subset: ordo_disease {source="Orphanet:145"} subset: predisposition synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [DOID:5683] @@ -59127,6 +59233,7 @@ synonym: "hereditary breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493] synonym: "syndrome, HBOC" RELATED [MESH:D061325] synonym: "syndromes, HBOC" RELATED [MESH:D061325] xref: DOID:5683 {source="MONDO:equivalentTo"} +xref: GARD:15010 {source="Orphanet:145"} xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"} xref: ICD10CM:C56 {source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"} xref: MESH:D061325 {source="MONDO:equivalentTo", source="DOID:5683"} @@ -59527,7 +59634,6 @@ replaced_by: MONDO:0006076 id: MONDO:0003606 name: adrenal medulla cancer def: "A malignant neoplasm involving the adrenal medulla" [https://orcid.org/0000-0002-6601-2165] -subset: gard_rare {source="GARD:0005755"} synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location] synonym: "adrenal medulla neoplasm" BROAD [DOID:5719] synonym: "adrenal medulla tumor" BROAD [DOID:5719] @@ -59668,7 +59774,6 @@ replaced_by: MONDO:0006183 id: MONDO:0003614 name: intravenous leiomyomatosis def: "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." [NCIT:C4518] -subset: gard_rare {source="GARD:0010802"} synonym: "intravenous leiomyomatosis" EXACT [DOID:5729, NCIT:C4518] xref: DOID:5729 {source="MONDO:equivalentTo"} xref: ICD9:238.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -59948,12 +60053,14 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0003630 name: pancreatic serous cystadenocarcinoma def: "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." [NCIT:C5724] +subset: gard_rare {source="GARD:21781"} subset: ordo_disease {source="Orphanet:424073"} synonym: "pancreas serous adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic serous cystadenocarcinoma" EXACT [NCIT:C5724, Orphanet:424073] synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724] synonym: "serous cystadenocarcinoma of the pancreas" EXACT [NCIT:C5724] xref: DOID:5751 {source="MONDO:equivalentTo"} +xref: GARD:21781 {source="Orphanet:424073"} xref: ICD10CM:C25.0 {source="Orphanet:424073", source="Orphanet:424073/nd"} xref: ICD10CM:C25.1 {source="Orphanet:424073", source="Orphanet:424073/nd"} xref: ICD10CM:C25.2 {source="Orphanet:424073", source="Orphanet:424073/nd"} @@ -60259,6 +60366,7 @@ intersection_of: disease_has_location UBERON:0001456 ! face id: MONDO:0003646 name: rectum neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5698] +subset: gard_rare {source="GARD:19756"} synonym: "NET of the rectum" EXACT [Orphanet:100081] synonym: "neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5698] synonym: "neuroendocrine neoplasm of the rectum" EXACT [NCIT:C5698] @@ -60272,6 +60380,7 @@ synonym: "rectum neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:pat synonym: "rectum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "rectum neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5777 {source="MONDO:equivalentTo"} +xref: GARD:19756 {source="Orphanet:100081"} xref: NCIT:C5698 {source="DOID:5777", source="MONDO:equivalentTo"} xref: Orphanet:100081 {source="MONDO:equivalentTo"} xref: UMLS:C1335686 {source="DOID:5777", source="MONDO:equivalentTo", source="NCIT:C5698"} @@ -60319,6 +60428,7 @@ intersection_of: disease_has_location UBERON:0002364 ! tympanic membrane id: MONDO:0003649 name: esophageal neuroendocrine tumor def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." [NCIT:P378] +subset: gard_rare {source="GARD:22058"} subset: ordo_disease synonym: "esophageal NEN" EXACT [Orphanet:506136] synonym: "esophageal NET" EXACT [NCIT:C95616] @@ -60342,6 +60452,7 @@ synonym: "oesophagus neuroendocrine neoplasm" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5784 {source="MONDO:equivalentTo"} +xref: GARD:22058 {source="Orphanet:506136"} xref: NCIT:C5821 {source="DOID:5784"} xref: NCIT:C95616 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:506136 {source="MONDO:equivalentTo"} @@ -60463,7 +60574,6 @@ replaced_by: MONDO:0019483 id: MONDO:0003658 name: B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma def: "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." [NCIT:C37869] -subset: gard_rare {source="GARD:0010897"} synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37869] synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37869] synonym: "Gray zone lymphoma" EXACT [NCIT:C37869] @@ -60644,7 +60754,7 @@ is_a: MONDO:0003113 {source="NCIT:C7327"} ! extragonadal germ cell cancer id: MONDO:0003669 name: testicular seminoma def: "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." [NCIT:C7328] -subset: gard_rare {source="GARD:0004792"} +subset: gard_rare {source="GARD:4792"} subset: ordo_disease {source="Orphanet:842"} synonym: "seminoma of testis" EXACT [DOID:5842, NCIT:C7328, Orphanet:842] synonym: "seminoma of the testis" EXACT [NCIT:C7328] @@ -60659,6 +60769,7 @@ synonym: "testicular seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testis seminoma" EXACT [MONDO:patterns/location] xref: DOID:5842 {source="MONDO:equivalentTo"} xref: EFO:0003101 {source="MONDO:equivalentTo"} +xref: GARD:4792 {source="Orphanet:842"} xref: HP:0100617 {source="MONDO:otherHierarchy"} xref: ICD10CM:C62.9 {source="Orphanet:842/ntbt", source="Orphanet:842"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -60957,7 +61068,6 @@ is_a: MONDO:0005065 {source="NCIT:C7635"} ! mesothelioma id: MONDO:0003689 name: familial hemolytic anemia def: "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." [NCIT:C34379] -subset: gard_rare {source="GARD:0006167"} synonym: "anaemia hemolytic congenital" RELATED OMO:0003005 [] synonym: "anemia hemolytic congenital" RELATED [GARD:0006167] synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 [] @@ -61376,7 +61486,6 @@ intersection_of: disease_arises_from_structure UBERON:0011202 ! urachus epitheli id: MONDO:0003715 name: bladder urachal carcinoma def: "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." [GARD:0007836] -subset: gard_rare synonym: "bladder urachal cancer" EXACT [NCIT:C39842] synonym: "bladder urachal carcinoma" EXACT [NCIT:C39842] synonym: "urachal carcinoma" RELATED [GARD:0007836, ONCOTREE:URCA] @@ -62103,7 +62212,6 @@ intersection_of: disease_has_location UBERON:0000402 ! nasal vestibule id: MONDO:0003754 name: Brown-Sequard syndrome def: "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." [https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome] -subset: gard_rare {source="GARD:0005964"} synonym: "Brown-Squard syndrome" EXACT [DOID:606] synonym: "Hemicord syndrome" RELATED [GARD:0005964] synonym: "Hemiparaplegic syndrome" RELATED [GARD:0005964] @@ -62156,7 +62264,6 @@ is_a: MONDO:0002229 {source="DOID:6067", source="NCIT:C5242"} ! ovarian epitheli id: MONDO:0003757 name: paraplegia def: "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." [NCIT:P378] -subset: gard_rare {source="GARD:0007327"} synonym: "paraplegia, lower" EXACT [DOID:607] synonym: "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" RELATED [GARD:0007327] xref: DOID:607 {source="MONDO:equivalentTo"} @@ -62577,6 +62684,7 @@ id: MONDO:0003778 name: inborn error of immunity def: "A disorder in which the immune system is unable to mount an adequate immune response." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:19813"} subset: ordo_group_of_disorders {source="Orphanet:101997"} synonym: "antibody deficiency syndrome" RELATED [MESH:D007153] synonym: "antibody deficiency syndromes" RELATED [MESH:D007153] @@ -62603,6 +62711,7 @@ synonym: "syndromes, antibody deficiency" RELATED [MESH:D007153] synonym: "syndromes, immunologic deficiency" RELATED [MESH:D007153] synonym: "syndromes, immunological deficiency" RELATED [MESH:D007153] xref: DOID:612 {source="MONDO:equivalentTo"} +xref: GARD:19813 {source="Orphanet:101997"} xref: ICD10CM:D84.9 {source="DOID:612"} xref: ICD9:279.3 {source="DOID:612", source="MONDO:directSiblingOf"} xref: MESH:D007153 {source="DOID:612", source="MONDO:equivalentTo"} @@ -62844,6 +62953,7 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0003789 name: hereditary papillary renal cell carcinoma def: "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." [NCIT:C9222] +subset: gard_rare {source="GARD:13157"} synonym: "familial renal papillary carcinoma" EXACT [NCIT:C9222] synonym: "hereditary kidney papillary carcinoma" EXACT [NCIT:C9222] synonym: "hereditary papillary carcinoma of kidney" EXACT [NCIT:C9222] @@ -62854,6 +62964,7 @@ synonym: "hereditary papillary renal cell carcinoma" EXACT CLINGEN_PREFERRED [MO synonym: "renal cell carcinoma, papillary" EXACT [OMIM:605074, OMIM:genemap2] synonym: "renal cell carcinoma, papillary, 1, familial and somatic" EXACT [OMIM:605074, OMIM:genemap2] xref: DOID:6163 {source="MONDO:equivalentTo"} +xref: GARD:13157 {source="Orphanet:47044"} xref: NCIT:C9222 {source="MONDO:equivalentTo", source="DOID:6163"} xref: OMIM:605074 {source="MONDO:equivalentTo"} xref: Orphanet:47044 {source="MONDO:equivalentTo"} @@ -62899,6 +63010,7 @@ id: MONDO:0003792 name: ovarian carcinosarcoma alt_id: MONDO:0016247 def: "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." [NCIT:C9192] +subset: gard_rare {source="GARD:7296"} subset: ordo_disease {source="Orphanet:213512"} synonym: "carcinosarcoma of ovary" EXACT [NCIT:C9192] synonym: "carcinosarcoma of the ovary" EXACT [NCIT:C9192] @@ -62948,6 +63060,7 @@ synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192] synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6170 {source="MONDO:equivalentTo"} xref: EFO:1000412 {source="MONDO:equivalentTo"} +xref: GARD:7296 {source="Orphanet:213512"} xref: ICD10CM:C56 {source="Orphanet:213512/ntbt", source="Orphanet:213512"} xref: NCIT:C9192 {source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"} xref: ONCOTREE:OCS {source="MONDO:equivalentTo"} @@ -62977,6 +63090,7 @@ replaced_by: MONDO:0004398 id: MONDO:0003795 name: ovarian small cell carcinoma def: "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." [NCIT:C27390] +subset: gard_rare {source="GARD:10411"} subset: ordo_disease {source="Orphanet:370396"} synonym: "ovarian small cell cancer" EXACT [NCIT:C27390] synonym: "ovarian small cell carcinoma" EXACT [MONDO:0006341, NCIT:C27390] @@ -62989,6 +63103,7 @@ synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272] synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396] xref: DOID:6179 {source="MONDO:equivalentTo"} xref: EFO:1000431 {source="MONDO:equivalentTo"} +xref: GARD:10411 {source="Orphanet:370396"} xref: ICD10CM:C56 {source="Orphanet:370396", source="Orphanet:370396/ntbt"} xref: NCIT:C27390 {source="DOID:6179", source="MONDO:equivalentTo", source="EFO:1000431"} xref: ONCOTREE:SCCO {source="MONDO:equivalentTo"} @@ -63519,7 +63634,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0003825 name: kidney oncocytoma def: "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." [NCIT:C4526] -subset: gard_rare {source="GARD:0008477"} synonym: "kidney oncocytic neoplasm" EXACT [MONDO:patterns/location] synonym: "kidney oncocytoma" EXACT [NCIT:C4526] synonym: "oncocytoma kidney" RELATED [GARD:0008477] @@ -63676,6 +63790,7 @@ id: MONDO:0003832 name: complement deficiency def: "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." [MONDO:nv, PMID:16026838, PMID:20930072] subset: disease_grouping +subset: gard_rare {source="GARD:21919"} subset: ordo_group_of_disorders {source="Orphanet:459345"} synonym: "complement activation disease" EXACT [MONDO:design_pattern] synonym: "complement deficiency" EXACT [DOID:626, NCIT:C4691] @@ -63683,6 +63798,7 @@ synonym: "complement deficiency disease" EXACT [DOID:626] synonym: "disorder of complement activation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726] xref: DOID:626 {source="MONDO:equivalentTo"} +xref: GARD:21919 {source="Orphanet:459345"} xref: ICD10CM:D80-D89 {source="DOID:626"} xref: ICD10CM:D84.1 {source="DOID:626"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -64435,7 +64551,6 @@ is_a: MONDO:0003109 {source="DOID:6381", source="NCIT:C5281"} ! foramen magnum m id: MONDO:0003869 name: childhood brain stem glioma def: "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." [NCIT:C9042] -subset: gard_rare {source="GARD:0009306"} synonym: "brain stem glioma" BROAD [NCIT:C9042] synonym: "brain stem glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood brain stem glioma" EXACT [NCIT:C9042] @@ -65267,7 +65382,6 @@ id: MONDO:0003924 name: adrenal cortex adenoma alt_id: MONDO:0005248 def: "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C9003] -subset: gard_rare synonym: "adenoma of adrenal cortex" EXACT [NCIT:C9003] synonym: "adenoma of adrenal gland" EXACT [NCIT:C9003] synonym: "adenoma of the adrenal cortex" EXACT [NCIT:C9003] @@ -65971,7 +66085,6 @@ replaced_by: MONDO:0006138 id: MONDO:0003962 name: Froelich syndrome def: "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." [https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome] -subset: gard_rare {source="GARD:0006463"} synonym: "Adiposodysgenesis" RELATED [GARD:0006463] synonym: "adiposogenital dystrophy" RELATED [GARD:0006463] synonym: "adiposogenital syndrome" EXACT [DOID:6676] @@ -66580,7 +66693,6 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0004001 name: compartment syndrome def: "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." [NCIT:P378] -subset: gard_rare {source="GARD:0006141"} synonym: "compartment syndrome" EXACT [DOID:682] synonym: "compartmental syndrome" EXACT [DOID:682] synonym: "compartmental syndrome, NOS" RELATED EXCLUDE [DOID:682] @@ -67606,12 +67718,13 @@ id: MONDO:0004069 name: inborn mitochondrial metabolism disorder def: "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." [MESH:D028361] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:18887"} subset: ordo_group_of_disorders {source="Orphanet:68380"} synonym: "mitochondrial disease" BROAD [MONDO:0019055] synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048] synonym: "mitochondrial metabolism disease" RELATED [DOID:700] xref: DOID:700 {source="MONDO:cjm", source="MONDO:equivalentTo"} +xref: GARD:18887 {source="Orphanet:68380"} xref: MESH:D028361 {source="DOID:700", source="Orphanet:68380", source="MONDO:equivalentTo", source="Orphanet:68380/e"} xref: Orphanet:68380 {source="MONDO:equivalentTo"} xref: SCTID:240096000 {source="DOID:700"} @@ -67633,7 +67746,6 @@ replaced_by: MONDO:0016689 id: MONDO:0004071 name: childhood cerebral astrocytoma def: "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." [NCIT:C4347] -subset: gard_rare {source="GARD:0009302"} synonym: "cerebral astrocytoma" BROAD [NCIT:C4347] synonym: "cerebral astrocytoma, childhood" RELATED [GARD:0009302] synonym: "childhood astrocytic tumor of telencephalon" EXACT [MONDO:design_pattern] @@ -68018,7 +68130,6 @@ is_a: MONDO:0002998 {source="DOID:7054", source="NCIT:C5279"} ! skull base menin id: MONDO:0004095 name: B-cell neoplasm def: "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." [MESH:D016393] -subset: gard_rare {source="GARD:0005877"} synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707, NCIT:C27907] synonym: "B-cell lymphoma" RELATED [DOID:707] synonym: "B-cell neoplasm" EXACT [NCIT:C27907] @@ -68322,7 +68433,7 @@ replaced_by: MONDO:0017600 id: MONDO:0004114 name: urinary bladder small cell neuroendocrine carcinoma def: "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." [NCIT:C9461] -subset: gard_rare {source="GARD:0011923"} +subset: gard_rare {source="GARD:11923"} subset: ordo_disease {source="Orphanet:284400"} synonym: "bladder small cell neuroendocrine cancer" EXACT [NCIT:C9461] synonym: "bladder small cell neuroendocrine carcinoma" EXACT [MONDO:0006113, NCIT:C9461] @@ -68339,6 +68450,7 @@ synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:71 synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7132 {source="MONDO:equivalentTo"} xref: EFO:1000129 {source="MONDO:equivalentTo"} +xref: GARD:11923 {source="Orphanet:284400"} xref: ICD10CM:C67.0 {source="Orphanet:284400", source="Orphanet:284400/btnt"} xref: ICD10CM:C67.1 {source="Orphanet:284400", source="Orphanet:284400/btnt"} xref: ICD10CM:C67.2 {source="Orphanet:284400", source="Orphanet:284400/btnt"} @@ -68625,10 +68737,12 @@ intersection_of: disease_has_location UBERON:0001353 ! anal region id: MONDO:0004132 name: anal canal squamous cell carcinoma def: "A squamous cell carcinoma arising from the mucosa of the anal canal." [NCIT:C7469] +subset: gard_rare {source="GARD:21774"} subset: ordo_disease {source="Orphanet:424019"} synonym: "anal canal squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7469] synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519] xref: DOID:7177 {source="MONDO:equivalentTo"} +xref: GARD:21774 {source="Orphanet:424019"} xref: ICD10CM:C21.1 {source="Orphanet:424019/ntbt", source="Orphanet:424019"} xref: NCIT:C7469 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7177"} xref: Orphanet:424019 {source="MONDO:equivalentTo"} @@ -69436,12 +69550,14 @@ intersection_of: disease_has_location UBERON:0003128 ! cranium id: MONDO:0004187 name: nodular fasciitis def: "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827] +subset: gard_rare {source="GARD:21959"} subset: ordo_disease {source="Orphanet:477742"} synonym: "fasciitis - nodular" EXACT [DOID:7327] synonym: "nodular fasciitis" EXACT [DOID:7327, MONDO:0018785, NCIT:C3827] synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, NCIT:C3827, Orphanet:477742] synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742] xref: DOID:7327 {source="MONDO:equivalentTo"} +xref: GARD:21959 {source="Orphanet:477742"} xref: ICD10CM:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"} xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3827 {source="DOID:7327", source="MONDO:equivalentTo"} @@ -69902,7 +70018,6 @@ intersection_of: MONDO:0003464 {source="NCIT:C27288"} ! cystadenofibroma id: MONDO:0004215 name: cutaneous anthrax def: "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." [DOID:7426, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous] -subset: gard_rare {source="GARD:0008158"} synonym: "anthrax, skin type" RELATED [GARD:0008158] synonym: "skin anthrax" RELATED [GARD:0008158] xref: DOID:7426 {source="MONDO:equivalentTo"} @@ -69923,9 +70038,11 @@ id: MONDO:0004216 name: pineal region germinoma def: "A germinoma that arises from the pineal gland." [NCIT:P378] comment: Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency +subset: gard_rare {source="GARD:19162"} synonym: "germinoma" BROAD [NCIT:C8712] synonym: "pineal germinoma" EXACT [NCIT:C8712] xref: DOID:7428 {source="MONDO:equivalentTo"} +xref: GARD:19162 {source="Orphanet:91352"} xref: MEDGEN:208928 {source="UMLS:C0854912"} xref: NCIT:C8712 {source="MONDO:equivalentTo", source="DOID:7428", source="UMLS:C0854912"} xref: Orphanet:91352 {source="MONDO:equivalentTo"} @@ -70240,6 +70357,7 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0004234 name: chronic lymphoproliferative disorder of NK-cells def: "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." [NCIT:C39591] +subset: gard_rare {source="GARD:22072"} subset: ordo_disease synonym: "chronic lymphoproliferative disorder of natural killer cells" RELATED [Orphanet:512017] synonym: "chronic lymphoproliferative disorder of NK-cells" EXACT [NCIT:C39591, Orphanet:512017] @@ -70260,6 +70378,7 @@ synonym: "NK-LGL leukemia" EXACT [NCIT:C39591] synonym: "NK-LGLL" EXACT [NCIT:C39591] synonym: "NK-type lymphoproliferative disorder of granular lymphocytes" EXACT [NCIT:C39591] xref: DOID:7465 {source="MONDO:equivalentTo"} +xref: GARD:22072 {source="Orphanet:512017"} xref: ICDO:9831/3 {source="NCIT:C39591"} xref: NCIT:C39591 {source="MONDO:equivalentTo", source="DOID:7465"} xref: Orphanet:512017 {source="MONDO:equivalentTo"} @@ -70381,6 +70500,7 @@ relationship: excluded_subClassOf MONDO:0004203 {source="DOID:7488"} ! female ur id: MONDO:0004241 name: Osgood-Schlatter disease def: "Osteochondrosis of the growth plate near the tibial tuberosity." [NCIT:P378] +subset: gard_rare {source="GARD:19364"} subset: ordo_disease {source="Orphanet:97335"} synonym: "aseptic necrosis of the tibial tubercle" EXACT [Orphanet:97335] synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [DOID:7489] @@ -70391,6 +70511,7 @@ synonym: "osteochondritis of tibial tubercle" EXACT [DOID:7489] synonym: "Osteochondrosis of proximal tibia" EXACT [DOID:7489] synonym: "Osteochondrosis of the tibial tubercle" EXACT [Orphanet:97335] xref: DOID:7489 {source="MONDO:equivalentTo"} +xref: GARD:19364 {source="Orphanet:97335"} xref: ICD10CM:M93.2 {source="Orphanet:97335", source="Orphanet:97335/ntbt"} xref: ICD9:736.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10031130 {source="Orphanet:97335", source="Orphanet:97335/e"} @@ -71101,6 +71222,7 @@ is_obsolete: true id: MONDO:0004285 name: pancreatic intraductal papillary-mucinous carcinoma def: "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." [NCIT:C5725] +subset: gard_rare {source="GARD:21779"} subset: ordo_disease {source="Orphanet:424058"} synonym: "intraductal papillary mucinous carcinoma of pancreas" EXACT [MONDO:0018524] synonym: "intraductal papillary-colloid carcinoma of pancreas" RELATED [NCIT:C5725] @@ -71114,6 +71236,7 @@ synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [NCIT:C572 synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [NCIT:C5725] synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5725] xref: DOID:7574 {source="MONDO:equivalentTo"} +xref: GARD:21779 {source="Orphanet:424058"} xref: ICD10CM:C25.3 {source="Orphanet:424058/ntbt", source="Orphanet:424058"} xref: NCIT:C5725 {source="MONDO:equivalentTo", source="NCIT:C5725", source="DOID:7574"} xref: Orphanet:424058 {source="MONDO:equivalentTo"} @@ -71838,7 +71961,6 @@ intersection_of: disease_has_location UBERON:0000391 ! leptomeninx id: MONDO:0004331 name: bladder urachal adenocarcinoma def: "A adenocarcinoma that involves the urachus." [MONDO:patterns/location] -subset: gard_rare synonym: "adenocarcinoma of the urachus" RELATED [GARD:0010186] synonym: "bladder urachal adenocarcinoma" EXACT [NCIT:C39843] synonym: "urachal adenocarcinoma" RELATED [ONCOTREE:UA] @@ -71913,7 +72035,7 @@ relationship: disease_has_feature MONDO:0018912 ! Cushing syndrome id: MONDO:0004334 name: non-functional pancreatic neuroendocrine tumor def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." [NCIT:C45837] -subset: gard_rare {source="GARD:0004002"} +subset: gard_rare {source="GARD:22054"} subset: ordo_disease synonym: "inactive pancreatic endocrine tumor" EXACT [NCIT:C45837] synonym: "inactive pancreatic endocrine tumour" EXACT OMO:0003005 [] @@ -71949,6 +72071,7 @@ synonym: "nonsyndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] synonym: "nonsyndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:7698 {source="MONDO:equivalentTo"} xref: EFO:1000398 {source="MONDO:equivalentTo"} +xref: GARD:22054 {source="Orphanet:506075"} xref: ICDO:8150/3 {source="NCIT:C45837"} xref: MESH:C536126 {source="DOID:7698", source="MONDO:equivalentTo"} xref: NCIT:C45837 {source="DOID:7698", source="MONDO:equivalentTo"} @@ -72254,12 +72377,14 @@ id: MONDO:0004351 name: intraocular lymphoma alt_id: MONDO:0017206 def: "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." [NCIT:C9184] +subset: gard_rare {source="GARD:21063"} subset: ordo_disease {source="Orphanet:279904"} synonym: "intraocular lymphoma" EXACT [NCIT:C9184] synonym: "PIOL" EXACT ABBREVIATION [Orphanet:279904] synonym: "primary intraocular lymphoma" EXACT [DOID:775, NCIT:C9184] synonym: "primary intraocular non-Hodgkin's lymphoma" EXACT [Orphanet:279904] xref: DOID:775 {source="MONDO:equivalentTo"} +xref: GARD:21063 {source="Orphanet:279904"} xref: ICD10CM:C85\,7 {source="Orphanet:279904"} xref: ICD9:200.50 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D064090 {source="DOID:775", source="MONDO:equivalentTo"} @@ -74504,7 +74629,6 @@ is_a: MONDO:0016107 {source="NCIT:C34833"} ! myotonic dystrophy id: MONDO:0004496 name: myocarditis def: "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." [https://rarediseases.info.nih.gov/diseases/7137/myocarditis] -subset: gard_rare {source="GARD:0007137"} synonym: "inflammation of myocardium" EXACT [] synonym: "myocardial inflammation" EXACT [DOID:820] synonym: "myocardial inflammation (finding)" EXACT [DOID:820] @@ -75196,7 +75320,7 @@ is_a: MONDO:0003669 {source="DOID:8358", source="NCIT:C40958"} ! testicular semi id: MONDO:0004542 name: cervical adenosquamous carcinoma, glassy cell variant def: "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." [NCIT:C40212] -subset: gard_rare +subset: gard_rare {source="GARD:20500"} subset: ordo_disease {source="Orphanet:213833"} synonym: "cervical adenosquamous carcinoma, glassy cell variant" EXACT [NCIT:C40212] synonym: "GCC of the cervix" RELATED [GARD:0008437] @@ -75205,6 +75329,7 @@ synonym: "glassy cell carcinoma of the cervix" RELATED [GARD:0008437] synonym: "glassy cell carcinoma of the cervix uteri" RELATED [Orphanet:213833] synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [DOID:8361] xref: DOID:8361 {source="MONDO:equivalentTo"} +xref: GARD:20500 {source="Orphanet:213833"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213833", source="Orphanet:213833/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213833", source="Orphanet:213833/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213833", source="Orphanet:213833/btnt"} @@ -75753,7 +75878,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0004574 name: pyridoxine deficiency anemia def: "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." [NCIT:P378] -subset: gard_rare synonym: "B6 deficiencies, vitamin" RELATED [MESH:D026681] synonym: "B6 deficiency, vitamin" RELATED [MESH:D026681] synonym: "B6 vitamin deficiencies" RELATED [MESH:D026681] @@ -76276,6 +76400,7 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0005581 ! collagen trime id: MONDO:0004604 name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance def: "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)" [NCIT:P378] +subset: gard_rare {source="GARD:19593"} subset: ordo_histopathological_subtype {source="Orphanet:98845"} synonym: "classic Hodgkin lymphoma, lymphocyte-rich type" EXACT [MONDO:0020329] synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [DOID:8543] @@ -76293,6 +76418,7 @@ synonym: "lymphocyte-rich Classic Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte-rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913] xref: DOID:8543 {source="MONDO:equivalentTo"} +xref: GARD:19593 {source="Orphanet:98845"} xref: ICD10CM:C81.4 {source="Orphanet:98845", source="Orphanet:98845/e", source="DOID:8543"} xref: ICD9:201.4 {source="DOID:8543"} xref: ICDO:9651/3 {source="NCIT:C6913"} @@ -76624,7 +76750,6 @@ is_a: MONDO:0005071 {source="DOID:862"} ! nervous system disorder id: MONDO:0004619 name: measles def: "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." [NCIT:P378] -subset: gard_rare {source="GARD:0003434"} synonym: "Measles morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Measles morbillivirus disease or disorder" EXACT [] synonym: "Measles morbillivirus infectious disease" EXACT [] @@ -76653,6 +76778,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3434/measles id: MONDO:0004620 name: Hodgkin's lymphoma, lymphocytic depletion def: "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" [NCIT:P378] +subset: gard_rare {source="GARD:19594"} subset: ordo_histopathological_subtype {source="Orphanet:98846"} synonym: "adult HDLD" EXACT ABBREVIATION [NCIT:C9125] synonym: "adult LDHD" EXACT ABBREVIATION [NCIT:C9125] @@ -76671,6 +76797,7 @@ synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [DOID:8628] synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9283] xref: DOID:8628 {source="MONDO:equivalentTo"} +xref: GARD:19594 {source="Orphanet:98846"} xref: ICD10CM:C81.3 {source="DOID:8628", source="Orphanet:98846", source="Orphanet:98846/e"} xref: ICD9:201.7 {source="DOID:8628"} xref: MESH:D006689 {source="DOID:8628"} @@ -76868,7 +76995,6 @@ is_a: MONDO:0005485 {source="DOID:8646", source="MONDO:cjm"} ! psychotic disorde id: MONDO:0004631 name: tongue cancer def: "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." [NCIT:C9345] -subset: gard_rare {source="GARD:0007779"} synonym: "cancer of tongue" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of anterior 2/3 of tongue" NARROW [DOID:8649] synonym: "malignant neoplasm of anterior two-thirds of tongue" NARROW [DOID:8649] @@ -77060,6 +77186,7 @@ replaced_by: MONDO:0004952 id: MONDO:0004633 name: Hodgkin's lymphoma, mixed cellularity def: "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" [NCIT:C3517] +subset: gard_rare {source="GARD:19592"} subset: ordo_histopathological_subtype {source="Orphanet:98844"} synonym: "classic Hodgkin lymphoma, mixed cellularity type" EXACT [MONDO:0020328] synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [DOID:8654] @@ -77075,6 +77202,7 @@ synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517] xref: DOID:8654 {source="MONDO:equivalentTo"} +xref: GARD:19592 {source="Orphanet:98844"} xref: ICD10CM:C81.2 {source="DOID:8654", source="Orphanet:98844", source="Orphanet:98844/e"} xref: ICD9:201.6 {source="DOID:8654"} xref: ICDO:9652/3 {source="NCIT:C3517"} @@ -77194,7 +77322,6 @@ intersection_of: disease_has_location UBERON:0014385 ! aryepiglottic fold id: MONDO:0004638 name: lymphosarcoma def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." [NCIT:C26919] -subset: gard_rare {source="GARD:0006946"} synonym: "diffuse lymphoma" EXACT [DOID:8675] synonym: "lymphosarcoma" EXACT [NCIT:C26919] synonym: "malignant lymphoma" RELATED EXCLUDE [DOID:8675] @@ -77396,7 +77523,6 @@ relationship: excluded_subClassOf MONDO:0004608 {source="DOID:8688"} ! oropharyn id: MONDO:0004643 name: myeloid leukemia def: "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." [NCIT:C3172] -subset: gard_rare {source="GARD:0008226"} synonym: "leukaemia granulocytic" EXACT OMO:0003005 [] synonym: "leukaemia myelogenous" EXACT OMO:0003005 [] synonym: "leukaemia myeloid" EXACT OMO:0003005 [] @@ -77648,7 +77774,6 @@ relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8731"} ! vascular id: MONDO:0004651 name: smallpox def: "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." [NCIT:P378] -subset: gard_rare {source="GARD:0007444"} synonym: "ordinary smallpox" EXACT [DOID:8736] synonym: "smallpox virus infection" RELATED [NCIT:C96527] synonym: "Variola" RELATED [GARD:0007444] @@ -77705,6 +77830,7 @@ relationship: disease_has_infectious_agent NCBITaxon:2 {source="MONDO:Wikidata"} id: MONDO:0004653 name: atypical chronic myeloid leukemia, BCR-ABL1 negative def: "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" [NCIT:C3519] +subset: gard_rare {source="GARD:19583"} subset: ordo_disease {source="Orphanet:98824"} synonym: "aCML" EXACT [DOID:0060597, NCIT:C3519] synonym: "atypical chronic myeloid leukaemia" EXACT OMO:0003005 [] @@ -77721,6 +77847,7 @@ synonym: "subacute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, NCIT:C3519, Orphanet:98824] xref: DOID:0060597 {source="MONDO:equivalentTo"} xref: DOID:8747 {source="MONDO:equivalentObsolete"} +xref: GARD:19583 {source="Orphanet:98824"} xref: ICD10CM:C92.2 {source="DOID:0060597", source="Orphanet:98824", source="Orphanet:98824/e"} xref: ICDO:9876/3 {source="NCIT:C3519"} xref: MedDRA:10054651 {source="Orphanet:98824", source="Orphanet:98824/e"} @@ -77756,7 +77883,6 @@ replaced_by: MONDO:0018872 id: MONDO:0004656 name: rubella def: "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." [NCIT:P378] -subset: gard_rare {source="GARD:0004742"} synonym: "german measles" EXACT [DOID:8781] synonym: "Rubella infection" EXACT [NCIT:C85051] synonym: "Rubella virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -78019,7 +78145,6 @@ is_a: MONDO:0009348 {source="NCIT:C3518", source="ONCOTREE:NSCHL"} ! classic Hod id: MONDO:0004666 name: metagonimiasis def: "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128390] -subset: gard_rare {source="GARD:0009745"} synonym: "infection by Metagonimus yokogawai" EXACT [DOID:884] synonym: "infections, Metagonimus yokogawai" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Metagonimus yokogawai infection" EXACT [GARD:0009745, MONDO:patterns/infectious_disease_by_agent] @@ -78067,7 +78192,6 @@ intersection_of: disease_has_location UBERON:0001832 ! sublingual gland id: MONDO:0004668 name: fascioliasis def: "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." [NCIT:C128387] -subset: gard_rare {source="GARD:0006428"} synonym: "fasciola hepatica infection" EXACT [DOID:885] synonym: "Fasciolosis" EXACT [NCIT:C128387] synonym: "infection by fasciola" EXACT [DOID:885] @@ -78404,7 +78528,7 @@ replaced_by: MONDO:0016030 id: MONDO:0004684 name: plantar fibromatosis def: "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680] -subset: gard_rare {source="GARD:0006873"} +subset: gard_rare {source="GARD:6873"} subset: ordo_disease {source="Orphanet:199251"} synonym: "Dupuytren's contracture of foot" EXACT [DOID:8936] synonym: "Ledderhose's disease" EXACT [DOID:8936, NCIT:C4680] @@ -78416,6 +78540,7 @@ synonym: "plantar part of pes superficial fibromatosis" EXACT [MONDO:patterns/lo synonym: "superficial fibromatosis of plantar part of pes" EXACT [MONDO:design_pattern] xref: DOID:8936 {source="MONDO:equivalentTo"} xref: EFO:1000481 {source="MONDO:equivalentTo"} +xref: GARD:6873 {source="Orphanet:199251"} xref: ICD10CM:M72.2 {source="Orphanet:199251/e", source="DOID:8936", source="Orphanet:199251"} xref: ICD9:728.71 {source="DOID:8936", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035154 {source="Orphanet:199251/e", source="Orphanet:199251"} @@ -78532,6 +78657,7 @@ intersection_of: disease_has_location UBERON:0035228 ! tonsillar fossa id: MONDO:0004691 name: autosomal dominant polycystic kidney disease def: "Autosomal dominant form of polycystic kidney disease." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:10413"} synonym: "ADPKD" EXACT ABBREVIATION [Orphanet:730] synonym: "autosomal dominant polycystic kidney disease" EXACT CLINGEN_PREFERRED [] synonym: "congenital biliary ectasias" RELATED [DOID:898] @@ -78539,6 +78665,7 @@ synonym: "polycystic kidney and hepatic disease 1" RELATED EXCLUDE [DOID:898] synonym: "polycystic kidney disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:898 {source="MONDO:equivalentTo"} xref: EFO:1001496 {source="MONDO:equivalentTo"} +xref: GARD:10413 {source="Orphanet:730"} xref: ICD10CM:Q61.3 {source="DOID:898"} xref: ICD9:753.12 {source="DOID:898"} xref: ICD9:753.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -78614,7 +78741,6 @@ intersection_of: MONDO:0005096 {source="NCIT:C27093"} ! squamous cell carcinoma id: MONDO:0004694 name: hepatopulmonary syndrome def: "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." [https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome] -subset: gard_rare {source="GARD:0013384"} xref: DOID:900 {source="MONDO:equivalentTo"} xref: EFO:1001346 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.81 {source="DOID:900", source="MONDO:equivalentTo"} @@ -79587,6 +79713,7 @@ id: MONDO:0004739 name: urea cycle disorder def: "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:7837"} subset: ordo_group_of_disorders {source="Orphanet:79167"} synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [DOID:9267] synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM:270.6] @@ -79598,6 +79725,7 @@ synonym: "urea cycle defect" EXACT [DOID:9267] synonym: "urea cycle disorders" EXACT [GARD:0007837] synonym: "urea cycle metabolism disorder" EXACT [NCIT:C84785] xref: DOID:9267 {source="MONDO:equivalentTo"} +xref: GARD:7837 {source="Orphanet:79167"} xref: ICD10CM:E72.2 {source="Orphanet:79167/attributed", source="Orphanet:79167/ntbt", source="DOID:9267", source="Orphanet:79167"} xref: ICD10CM:E72.20 {source="DOID:9267"} xref: ICD9:270.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9267"} @@ -79655,7 +79783,6 @@ is_a: MONDO:0022687 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebella id: MONDO:0004743 name: hyperhomocysteinemia def: "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." [NCIT:P378] -subset: gard_rare {source="GARD:0008230"} synonym: "homocysteinemia" EXACT [OMIM:603174] synonym: "hyperhomocysteinemia" EXACT [OMIM:603174] xref: DOID:9279 {source="MONDO:equivalentTo"} @@ -79693,8 +79820,10 @@ is_a: MONDO:0005041 {source="DOID:9283"} ! glaucoma id: MONDO:0004745 name: priapism def: "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." [NCIT:P378] +subset: gard_rare {source="GARD:19933"} synonym: "Mentulagra" EXACT [DOID:9286] xref: DOID:9286 {source="MONDO:equivalentTo"} +xref: GARD:19933 {source="Orphanet:140949"} xref: ICD10CM:N48.3 {source="MONDO:equivalentTo", source="DOID:9286"} xref: ICD10CM:N48.30 {source="DOID:9286"} xref: ICD9:607.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9286"} @@ -81255,7 +81384,6 @@ is_a: MONDO:0004830 {source="DOID:9601", source="NCIT:C6483"} ! fasciitis id: MONDO:0004835 name: necrotizing fasciitis def: "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." [https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis] -subset: gard_rare {source="GARD:0006454"} xref: DOID:9602 {source="MONDO:equivalentTo"} xref: ICD10CM:M72.6 {source="DOID:9602", source="MONDO:equivalentTo"} xref: ICD9:728.86 {source="DOID:9602", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -81420,7 +81548,6 @@ intersection_of: disease_has_location UBERON:0003729 ! mouth mucosa id: MONDO:0004845 name: aphthous stomatitis def: "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." [NCIT:P378] -subset: gard_rare {source="GARD:0005834"} synonym: "aphtha" EXACT [DOID:9663] synonym: "aphthous ulceration" EXACT [DOID:9663] synonym: "canker sore" RELATED [DOID:9663] @@ -81940,7 +82067,6 @@ is_a: MONDO:0006816 {source="DOID:9754"} ! arthropathy id: MONDO:0004875 name: xanthogranulomatous cholecystitis def: "Cholecystitis that is characterized by nodules containing lipid." [NCIT:P378] -subset: gard_rare {source="GARD:0009451"} synonym: "CX" RELATED ABBREVIATION [GARD:0009451] xref: DOID:9766 {source="MONDO:equivalentTo"} xref: MESH:C536762 {source="DOID:9766", source="MONDO:equivalentTo"} @@ -82236,7 +82362,6 @@ is_a: MONDO:0004896 {source="DOID:9839"} ! esotropia id: MONDO:0004896 name: esotropia def: "A form of strabismus in which one or both eyes are deviated medially." [NCIT:P378] -subset: gard_rare {source="GARD:0008235"} synonym: "convergence in manifest squint" EXACT [DOID:9840] synonym: "crossed eyes" EXACT [DOID:9840] synonym: "internal strabismus" EXACT [DOID:9840, NCIT:C34596] @@ -82396,12 +82521,14 @@ id: MONDO:0004907 name: alopecia def: "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." [NCIT:C50575] subset: disease_grouping +subset: gard_rare {source="GARD:18995"} subset: ordo_group_of_disorders {source="Orphanet:79364"} synonym: "alopecia" EXACT [MONDO:0019279] synonym: "alopecia areata" NARROW [NCIT:C50575] synonym: "hair loss" EXACT [NCIT:C50575] synonym: "loss Of hair" EXACT [NCIT:C50575] xref: DOID:987 {source="MONDO:equivalentTo"} +xref: GARD:18995 {source="Orphanet:79364"} xref: ICD10CM:L65.9 {source="DOID:987"} xref: ICD9:704.0 {source="DOID:987"} xref: ICD9:704.00 {source="DOID:987", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -82780,9 +82907,11 @@ id: MONDO:0004933 name: hypoplastic left heart syndrome def: "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." [Orphanet:2248] comment: prototype_pattern +subset: gard_rare {source="GARD:6739"} subset: ordo_morphological_anomaly {source="Orphanet:2248"} synonym: "HLHS" EXACT ABBREVIATION [Orphanet:2248] xref: DOID:9955 {source="MONDO:equivalentTo"} +xref: GARD:6739 {source="Orphanet:2248"} xref: ICD10CM:Q23.4 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021076 {source="Orphanet:2248/e"} @@ -82909,7 +83038,6 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0004941 name: eosinophilia-myalgia syndrome def: "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" [MESH:D016603] -subset: gard_rare {source="GARD:0006345"} synonym: "EMS" RELATED ABBREVIATION [GARD:0006345] synonym: "eosinophilia myalgia syndrome" EXACT [DOID:998, ICD9CM:710.5] synonym: "L-tryptophan induced EMS" RELATED [GARD:0006345] @@ -82962,7 +83090,6 @@ intersection_of: disease_has_location UBERON:0001697 ! orbit of skull id: MONDO:0004944 name: neurosyphilis def: "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." [NCIT:C84935] -subset: gard_rare synonym: "late neurosyphilis" EXACT [DOID:9988] synonym: "neurosyphilis" EXACT [NCIT:C84935] synonym: "tertiary neurosyphilis" EXACT [DOID:9988] @@ -83039,6 +83166,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0004948 name: B-cell chronic lymphocytic leukemia def: "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." [Orphanet:67038] +subset: gard_rare {source="GARD:6104"} subset: ordo_disease {source="Orphanet:67038"} synonym: "B cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163] @@ -83077,6 +83205,7 @@ synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040] synonym: "small lymphocytic lymphoma" RELATED [Orphanet:67038] xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"} xref: EFO:0000095 {source="MONDO:equivalentTo", source="DOID:1040"} +xref: GARD:6104 {source="Orphanet:67038"} xref: ICD10CM:C91.1 {source="Orphanet:67038", source="Orphanet:67038/ntbt", source="DOID:1040"} xref: ICD10CM:C91.10 {source="DOID:1040"} xref: ICD9:204.1 {source="EFO:0000095", source="DOID:1040"} @@ -83212,6 +83341,7 @@ id: MONDO:0004952 name: Hodgkins lymphoma def: "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." [NCIT:C9357, Orphanet:98293] subset: disease_grouping +subset: gard_rare {source="GARD:2714"} subset: ordo_group_of_disorders {source="Orphanet:98293"} synonym: "HL" EXACT ABBREVIATION [DOID:8567, NCIT:C9357] synonym: "Hodgkin disease" EXACT [DOID:8567, MTH:NOCODE, NCIT:C9357] @@ -83227,6 +83357,7 @@ synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5 xref: DOID:8567 {source="MONDO:equivalentTo", source="EFO:0000183"} xref: DOID:8651 {source="EFO:0000183"} xref: EFO:0000183 {source="DOID:8567", source="MONDO:equivalentTo"} +xref: GARD:2714 {source="Orphanet:98293"} xref: ICD10CM:C81 {source="DOID:8567"} xref: ICD10CM:C81.9 {source="DOID:8567"} xref: ICD9:201 {source="DOID:8567", source="EFO:0000183"} @@ -83388,7 +83519,7 @@ intersection_of: MONDO:0024338 {source="NCIT:C26712"} ! mucinous neoplasm id: MONDO:0004958 name: oral cavity squamous cell carcinoma def: "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." [NCIT:C4833] -subset: gard_rare {source="GARD:0007263"} +subset: gard_rare {source="GARD:17932"} subset: ordo_disease synonym: "mouth scc" EXACT [NCIT:C4833] synonym: "mouth squamous cell carcinoma" EXACT [DOID:0050866, MONDO:patterns/location, NCIT:C4833] @@ -83407,6 +83538,7 @@ synonym: "squamous cell carcinoma of the mouth" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833] xref: DOID:0050866 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: EFO:0000199 {source="MONDO:equivalentTo"} +xref: GARD:17932 {source="Orphanet:502363"} xref: NCIT:C4833 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: ONCOTREE:OCSC {source="MONDO:equivalentTo"} xref: Orphanet:502363 {source="MONDO:equivalentTo"} @@ -83425,6 +83557,7 @@ name: plasma cell neoplasm def: "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." [NCIT:C4665] comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 subset: disease_grouping +subset: gard_rare {source="GARD:19440"} subset: ordo_group_of_disorders {source="Orphanet:98282"} synonym: "plasma cell disorder" RELATED [] synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665] @@ -83437,6 +83570,7 @@ synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665] synonym: "plasmacytic tumour" EXACT OMO:0003005 [] xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: EFO:0000200 {source="DOID:6536", source="MONDO:equivalentTo"} +xref: GARD:19440 {source="Orphanet:98282"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010265 {source="DOID:6536"} xref: MESH:D054219 {source="MONDO:equivalentTo"} @@ -83620,7 +83754,7 @@ id: MONDO:0004967 name: acute lymphoblastic leukemia def: "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." [NCIT:C3167] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:522"} subset: ordo_group_of_disorders {source="Orphanet:513"} synonym: "acute lymphoblastic leukaemia (ALL)" EXACT OMO:0003005 [] synonym: "acute lymphoblastic leukaemia (disease)" EXACT OMO:0003005 [] @@ -83651,6 +83785,7 @@ synonym: "precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor lymphoblastic leukemia" EXACT [NCIT:C3167] xref: DOID:9952 {source="EFO:0000220", source="MONDO:equivalentTo"} xref: EFO:0000220 {source="DOID:9952", source="MONDO:equivalentTo"} +xref: GARD:522 {source="Orphanet:513"} xref: HP:0006721 {source="MONDO:otherHierarchy"} xref: ICD10CM:C91 {source="DOID:1037"} xref: ICD10CM:C91.0 {source="DOID:9952", source="Orphanet:513", source="Orphanet:513/e"} @@ -83741,7 +83876,6 @@ relationship: disease_has_location CL:0000066 {source="EFO:0000784"} ! epithelia id: MONDO:0004971 name: adenoid cystic carcinoma def: "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." [NCIT:C2970] -subset: gard_rare synonym: "adenocystic carcinoma" EXACT [GARD:0005743, NCIT:C2970] synonym: "adenoid cystic cancer" EXACT [NCIT:C2970] synonym: "adenoid cystic carcinoma" EXACT [NCIT:C2970] @@ -83883,6 +84017,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0004976 name: amyotrophic lateral sclerosis def: "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." [Orphanet:803] +subset: gard_rare {source="GARD:5786"} subset: ordo_disease {source="Orphanet:803"} synonym: "ALS" EXACT ABBREVIATION [DOID:332, NCIT:C34373, Orphanet:803] synonym: "amyotrophic lateral sclerosis" EXACT CLINGEN_PREFERRED [] @@ -83892,6 +84027,7 @@ synonym: "Lou Gehrig's disease" EXACT [DOID:332] synonym: "motor neuron disease, bulbar" EXACT [DOID:332] xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"} xref: EFO:0000253 {source="MONDO:equivalentTo", source="DOID:332"} +xref: GARD:5786 {source="Orphanet:803"} xref: ICD10CM:G12.2 {source="Orphanet:803", source="Orphanet:803/ntbt"} xref: ICD10CM:G12.21 {source="MONDO:equivalentTo", source="DOID:332"} xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:332"} @@ -83913,7 +84049,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare id: MONDO:0004977 name: angioimmunoblastic T-cell lymphoma def: "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." [NCIT:C7528, PMID:22700722] -subset: gard_rare {source="GARD:0011973"} +subset: gard_rare {source="GARD:11973"} subset: ordo_disease {source="Orphanet:86886"} synonym: "AILD" EXACT ABBREVIATION [NCIT:C7528] synonym: "AILT" EXACT ABBREVIATION [Orphanet:86886] @@ -83927,6 +84063,7 @@ synonym: "lymphogranulomatosis X" EXACT [Orphanet:86886] synonym: "T-cell lymphoma, AILD type" EXACT [Orphanet:86886] xref: DOID:0111147 {source="MONDO:equivalentTo"} xref: EFO:0000255 {source="MONDO:equivalentTo"} +xref: GARD:11973 {source="Orphanet:86886"} xref: ICD10CM:C86.5 {source="Orphanet:86886", source="MONDO:equivalentTo", source="Orphanet:86886/e", source="DOID:0111147"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9705/3 {source="NCIT:C7528"} @@ -84421,11 +84558,13 @@ id: MONDO:0004994 name: cardiomyopathy def: "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." [NCIT:C34830] subset: disease_grouping +subset: gard_rare {source="GARD:20096"} subset: ordo_group_of_disorders {source="Orphanet:167848"} synonym: "Cardiomyopathies" EXACT [DOID:0050700, MESH:D009202] synonym: "cardiomyopathy" EXACT [MONDO:0015670] xref: DOID:0050700 {source="MONDO:equivalentTo", source="EFO:0000318"} xref: EFO:0000318 {source="MONDO:equivalentTo"} +xref: GARD:20096 {source="Orphanet:167848"} xref: ICD10CM:I42 {source="DOID:0050700", source="MONDO:equivalentTo"} xref: ICD10CM:I42.9 {source="DOID:0050700"} xref: ICD10CM:I51.5 {source="DOID:0050700"} @@ -84706,6 +84845,7 @@ is_a: MONDO:0004970 {source="DOID:4468", source="EFO:0000348", source="MESH:D018 id: MONDO:0005005 name: clear cell renal carcinoma def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [NCIT:C4033] +subset: gard_rare {source="GARD:9574"} synonym: "clear cell adenocarcinoma of kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma of the kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma, kidney" EXACT [NCIT:C4033] @@ -84729,6 +84869,7 @@ synonym: "renal clear cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "renal clear cell carcinoma" EXACT [NCIT:C4033] xref: DOID:4467 {source="MONDO:equivalentTo", source="EFO:0000349"} xref: EFO:0000349 {source="MONDO:equivalentTo"} +xref: GARD:9574 {source="Orphanet:319276"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002292 {source="DOID:4467"} xref: NCIT:C4033 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"} @@ -84748,6 +84889,7 @@ intersection_of: disease_has_location UBERON:0002113 ! kidney id: MONDO:0005006 name: clear cell sarcoma of kidney def: "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." [NCIT:C4264] +subset: gard_rare {source="GARD:21905"} subset: ordo_disease {source="Orphanet:457246"} synonym: "CCSK" EXACT ABBREVIATION [NCIT:C4264, ONCOTREE:CCSK, Orphanet:457246] synonym: "childhood clear cell sarcoma of the kidney" EXACT [NCIT:C4264] @@ -84764,6 +84906,7 @@ synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"} xref: EFO:0000350 {source="MONDO:equivalentTo"} +xref: GARD:21905 {source="Orphanet:457246"} xref: ICD10CM:C64 {source="Orphanet:457246", source="Orphanet:457246/index", source="Orphanet:457246/ntbt"} xref: ICDO:8964/3 {source="NCIT:C4264"} xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"} @@ -85256,6 +85399,7 @@ id: MONDO:0005021 name: dilated cardiomyopathy def: "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:221"} subset: ordo_group_of_disorders {source="Orphanet:217604"} synonym: "congestive cardiomyopathy" RELATED [DOID:12930] synonym: "dilated cardiomyopathy" EXACT CLINGEN_PREFERRED [] @@ -85264,6 +85408,7 @@ synonym: "idiopathic dilation cardiomyopathy" RELATED [DOID:12930, MESH:C536277] synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930] xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"} xref: EFO:0000407 {source="DOID:12930", source="MONDO:equivalentTo"} +xref: GARD:221 {source="Orphanet:217604"} xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"} xref: ICD10CM:I42.0 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -85442,6 +85587,7 @@ relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain id: MONDO:0005028 name: esophageal adenocarcinoma def: "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." [NCIT:C4025] +subset: gard_rare {source="GARD:16927"} subset: ordo_disease {source="Orphanet:99976"} synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025] synonym: "adenocarcinoma - oesophagus" EXACT OMO:0003005 [] @@ -85456,6 +85602,7 @@ synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025 synonym: "oesophagus adenocarcinoma" EXACT OMO:0003005 [] xref: DOID:4914 {source="MONDO:equivalentTo", source="EFO:0000478"} xref: EFO:0000478 {source="MONDO:equivalentTo"} +xref: GARD:16927 {source="Orphanet:99976"} xref: ICD10CM:C15.5 {source="Orphanet:99976/btnt", source="Orphanet:99976"} xref: MESH:C562730 {source="EFO:0000478", source="DOID:4914"} xref: NCIT:C4025 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} @@ -85474,7 +85621,7 @@ property_value: confidence "0.9347826086956523" xsd:double id: MONDO:0005029 name: essential thrombocythemia def: "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" [https://github.com/monarch-initiative/mondo/issues/230, NCIT:C3407] -subset: gard_rare {source="GARD:0006594"} +subset: gard_rare {source="GARD:6594"} subset: ordo_disease {source="Orphanet:3318"} synonym: "essential thrombocytemia" EXACT [NCIT:C3407] synonym: "essential thrombocythaemia" EXACT [DOID:2224] @@ -85489,6 +85636,7 @@ synonym: "primary thrombocythemia" EXACT [GARD:0006594, NCIT:C3407] synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407] xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"} xref: EFO:0000479 {source="MONDO:equivalentTo"} +xref: GARD:6594 {source="Orphanet:3318"} xref: ICD10CM:D47.3 {source="DOID:2224", source="Orphanet:3318", source="Orphanet:3318/e"} xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000479"} xref: ICDO:9962/3 {source="NCIT:C3407"} @@ -85620,6 +85768,7 @@ property_value: IAO:0000589 "thyroid adenoma (disease)" xsd:string id: MONDO:0005033 name: ganglioneuroma def: "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." [NCIT:C3049] +subset: gard_rare {source="GARD:20731"} subset: ordo_disease {source="Orphanet:251992"} synonym: "ganglioneuroma" EXACT [MONDO:ambiguous, NCIT:C3049] synonym: "ganglioneuroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -85629,6 +85778,7 @@ synonym: "GN" RELATED ABBREVIATION [ONCOTREE:GN] synonym: "neural Crest tumor, benign" EXACT [NCIT:C3049] xref: DOID:4817 {source="MONDO:equivalentTo", source="EFO:0000500"} xref: EFO:0000500 {source="MONDO:equivalentTo"} +xref: GARD:20731 {source="Orphanet:251992"} xref: HP:0003005 {source="MONDO:otherHierarchy"} xref: ICD10CM:D36.1 {source="Orphanet:251992", source="Orphanet:251992/ntbt"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -85705,6 +85855,7 @@ relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyro id: MONDO:0005035 name: ganglioneuroblastoma def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." [NCIT:C3790] +subset: gard_rare {source="GARD:20719"} subset: ordo_disease {source="Orphanet:251877"} synonym: "ganglioneuroblastoma" EXACT [MONDO:ambiguous, NCIT:C3790] synonym: "ganglioneuroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -85712,6 +85863,7 @@ synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [DOID:4163] synonym: "ganglioneuroblastoma, malignant" EXACT [NCIT:C3790] xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"} xref: EFO:0000502 {source="MONDO:equivalentTo"} +xref: GARD:20719 {source="Orphanet:251877"} xref: HP:0006747 {source="MONDO:otherHierarchy"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9490/3 {source="NCIT:C3790"} @@ -85810,7 +85962,6 @@ intersection_of: disease_has_location UBERON:0000990 ! reproductive system id: MONDO:0005040 name: germ cell tumor def: "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C3708] -subset: gard_rare synonym: "germ cell cancer" RELATED [DOID:2994] synonym: "germ cell neoplasm" EXACT [DOID:2994, NCIT:C3708] synonym: "germ cell tumor" EXACT [DOID:2994, NCIT:C3708] @@ -85944,6 +86095,7 @@ name: hypertrophic cardiomyopathy def: "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." [NCIT:C34449] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:20518"} subset: ordo_group_of_disorders {source="Orphanet:217569"} synonym: "familial hypertrophic cardiomyopathy" NARROW [DOID:11984] synonym: "HCM - hypertrophic cardiomyopathy" RELATED [] @@ -85953,6 +86105,7 @@ synonym: "hypertrophic subaortic stenosis" EXACT [Orphanet:217569] synonym: "obstructive hypertrophic cardiomyopathy" EXACT [Orphanet:217569] xref: DOID:11984 {source="MONDO:equivalentTo", source="EFO:0000538"} xref: EFO:0000538 {source="MONDO:equivalentTo"} +xref: GARD:20518 {source="Orphanet:217569"} xref: HP:0001639 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"} xref: ICD10CM:I42.1 {source="DOID:11984", source="MONDO:mondoIsBroaderThanSource"} xref: ICD10CM:I42.2 {source="MONDO:relatedTo"} @@ -86050,6 +86203,7 @@ relationship: disease_has_feature HP:0000789 ! Infertility id: MONDO:0005048 name: pancreatic insulin-producing neuroendocrine tumor def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." [NCIT:C3140] +subset: gard_rare {source="GARD:3010"} synonym: "beta cell neoplasm" EXACT [NCIT:C3140] synonym: "Beta cell tumor" EXACT [NCIT:C3140] synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140] @@ -86074,6 +86228,7 @@ synonym: "pancreatic insulin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin-producing tumour" EXACT OMO:0003005 [] +xref: GARD:3010 {source="Orphanet:97279"} xref: ICDO:8151/0 {source="NCIT:C3140"} xref: ICDO:8151/1 {source="NCIT:C3140"} xref: NCIT:C3140 {source="MONDO:equivalentTo"} @@ -86210,6 +86365,7 @@ replaced_by: MONDO:0008054 id: MONDO:0005055 name: Kaposi's sarcoma def: "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." [NCIT:P378] +subset: gard_rare {source="GARD:6814"} subset: ordo_disease {source="Orphanet:33276"} synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [DOID:8632] synonym: "anal Kaposi's sarcoma" NARROW [DOID:8632] @@ -86263,6 +86419,7 @@ synonym: "pulmonary Kaposi's sarcoma" NARROW [DOID:8632] synonym: "soft tissue Kaposi's sarcoma" NARROW [DOID:8632] xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"} xref: EFO:0000558 {source="MONDO:equivalentTo"} +xref: GARD:6814 {source="Orphanet:33276"} xref: HP:0100726 {source="MONDO:otherHierarchy"} xref: ICD10CM:C46.0 {source="Orphanet:33276/btnt", source="Orphanet:33276"} xref: ICD10CM:C46.1 {source="Orphanet:33276/btnt", source="Orphanet:33276"} @@ -86333,7 +86490,7 @@ relationship: disease_has_location UBERON:0000949 {source="EFO:0000784"} ! endoc id: MONDO:0005058 name: leiomyosarcoma def: "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." [NCIT:C3158] -subset: gard_rare {source="GARD:0006880"} +subset: gard_rare {source="GARD:6880"} subset: ordo_disease {source="Orphanet:64720"} synonym: "leiomyosarcoma" EXACT [NCIT:C3158] synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [NCIT:C3158] @@ -86342,6 +86499,7 @@ synonym: "leiomyosarcoma, malignant" EXACT [NCIT:C3158] synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158] xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"} xref: EFO:0000564 {source="MONDO:equivalentTo"} +xref: GARD:6880 {source="Orphanet:64720"} xref: ICD10CM:C49.9 {source="Orphanet:64720", source="Orphanet:64720/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8890/3 {source="NCIT:C3158"} @@ -86412,7 +86570,7 @@ property_value: IAO:0000589 "leukemia (disease)" xsd:string id: MONDO:0005060 name: liposarcoma def: "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." [NCIT:C3194] -subset: gard_rare {source="GARD:0006913"} +subset: gard_rare {source="GARD:6913"} subset: ordo_disease {source="Orphanet:69078"} synonym: "lip sarcoma" EXACT [MONDO:patterns/location] synonym: "liposarcoma" EXACT [NCIT:C3194] @@ -86421,6 +86579,7 @@ synonym: "liposarcoma, malignant" EXACT [NCIT:C3194] synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma] xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"} xref: EFO:0000569 {source="MONDO:equivalentTo"} +xref: GARD:6913 {source="Orphanet:69078"} xref: ICD10CM:C49.9 {source="Orphanet:69078/ntbt", source="Orphanet:69078"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8850/3 {source="NCIT:C3194"} @@ -86446,7 +86605,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6913/liposar id: MONDO:0005061 name: lung adenocarcinoma def: "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." [NCIT:C3512] -subset: gard_rare {source="GARD:0005742"} synonym: "adenocarcinoma of lung" EXACT [DOID:3910, NCIT:C3512] synonym: "adenocarcinoma of the lung" EXACT [NCIT:C3512] synonym: "bronchogenic lung adenocarcinoma" EXACT [DOID:3910] @@ -86477,6 +86635,7 @@ name: lymphoma def: "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." [NCIT:C3208] comment: This is potentially too broad as well as overlaps with leukemia and should be obsoleted. {source="EFO:0000574"} subset: disease_grouping +subset: gard_rare {source="GARD:20548"} subset: ordo_group_of_disorders {source="Orphanet:223735"} synonym: "lymphoid cancer" EXACT [DOID:0060058] synonym: "lymphoma" EXACT [MONDO:0016389, NCIT:C3208] @@ -86489,6 +86648,7 @@ synonym: "malignant lymphoma" EXACT [MONDO:cjm, NCIT:C3208] synonym: "MLYM" RELATED ABBREVIATION [ONCOTREE:MLYM] xref: DOID:0060058 {source="EFO:0000574", source="MONDO:equivalentTo"} xref: EFO:0000574 {source="MONDO:equivalentTo"} +xref: GARD:20548 {source="Orphanet:223735"} xref: ICD10CM:C85.9 {source="DOID:0060058"} xref: ICD9:200.0 {source="EFO:0000574"} xref: ICD9:200.1 {source="EFO:0000574"} @@ -86735,7 +86895,7 @@ id: MONDO:0005072 name: neuroblastoma def: "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." [PMID:32903387] comment: NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. -subset: gard_rare {source="GARD:0007185"} +subset: gard_rare {source="GARD:7185"} subset: ordo_disease {source="Orphanet:635"} synonym: "NB" RELATED ABBREVIATION [GARD:0007185] synonym: "neural Crest tumor, malignant" EXACT [NCIT:C3270] @@ -86744,6 +86904,7 @@ synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [DOID:769, NCIT:C3270] synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270] xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"} xref: EFO:0000621 {source="DOID:769", source="MONDO:equivalentTo"} +xref: GARD:7185 {source="Orphanet:635"} xref: ICD10CM:C74.9 {source="Orphanet:635/ntbt", source="Orphanet:635"} xref: ICDO:9500/3 {source="NCIT:C3270"} xref: MedDRA:10029260 {source="Orphanet:635", source="Orphanet:635/e"} @@ -86791,7 +86952,6 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0005074 name: papillary cystadenocarcinoma def: "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C3777] -subset: gard_rare {source="GARD:0010162"} synonym: "cystadenocarcinoma, papillary, malignant" EXACT [NCIT:C3777] synonym: "papillary cystadenocarcinoma" EXACT [DOID:3110, NCIT:C3777] synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3110] @@ -86876,7 +87036,7 @@ relationship: excluded_subClassOf MONDO:0006999 {source="DOID:9893"} ! tooth dis id: MONDO:0005077 name: pertussis def: "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." [NCIT:P378] -subset: gard_rare {source="GARD:0008692"} +subset: gard_rare {source="GARD:8692"} subset: ordo_disease {source="Orphanet:1489"} synonym: "Bordetella infection" BROAD [DOID:1116] synonym: "Bordetella pertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -86889,6 +87049,7 @@ synonym: "WC - whooping cough" EXACT [DOID:1116] synonym: "whooping cough" EXACT [DOID:1116] xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: EFO:0000650 {source="MONDO:equivalentTo"} +xref: GARD:8692 {source="Orphanet:1489"} xref: ICD10CM:A37.0 {source="Orphanet:1489", source="Orphanet:1489/btnt"} xref: ICD10CM:A37.1 {source="Orphanet:1489", source="MONDO:directSiblingOf", source="Orphanet:1489/btnt"} xref: ICD10CM:A37.8 {source="Orphanet:1489", source="Orphanet:1489/btnt"} @@ -86970,6 +87131,7 @@ relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver id: MONDO:0005081 name: preeclampsia def: "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." [Orphanet:275555] +subset: gard_rare {source="GARD:12924"} subset: ordo_disease {source="Orphanet:275555"} synonym: "gestational hypertension" EXACT [DOID:10591] synonym: "hypertension induced by pregnancy" EXACT [DOID:10591] @@ -86986,6 +87148,7 @@ synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "toxemia of pregnancy" RELATED [DOID:10591] xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"} xref: EFO:0000668 {source="MONDO:equivalentTo"} +xref: GARD:12924 {source="Orphanet:275555"} xref: ICD10CM:O14 {source="DOID:10591"} xref: ICD10CM:O14.0 {source="Orphanet:275555", source="Orphanet:275555/btnt"} xref: ICD10CM:O14.1 {source="Orphanet:275555", source="Orphanet:275555/btnt"} @@ -87135,7 +87298,7 @@ id: MONDO:0005086 name: renal cell carcinoma def: "A carcinoma that arises from glandular epithelial cells of the kidney" [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:13215"} subset: ordo_group_of_disorders {source="Orphanet:217071"} synonym: "adenocarcinoma of kidney" RELATED EXCLUDE [DOID:4450] synonym: "hypernephroma" EXACT [DOID:4450] @@ -87146,6 +87309,7 @@ synonym: "renal cell carcinoma" EXACT [MONDO:ambiguous] synonym: "renal cell carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4450 {source="EFO:0000681", source="MONDO:equivalentTo"} xref: EFO:0000681 {source="MONDO:equivalentTo", source="DOID:4450"} +xref: GARD:13215 {source="Orphanet:217071"} xref: HP:0005584 {source="MONDO:otherHierarchy"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067946 {source="Orphanet:217071", source="Orphanet:217071/e"} @@ -87303,6 +87467,7 @@ id: MONDO:0005091 name: severe acute respiratory syndrome alt_id: MONDO:0015370 def: "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." [NCIT:P378] +subset: gard_rare {source="GARD:9237"} subset: ordo_disease {source="Orphanet:140896"} synonym: "acute respiratory coronavirus infection" EXACT [] synonym: "SARS" EXACT ABBREVIATION [DOID:2945] @@ -87312,6 +87477,7 @@ synonym: "SARS coronavirus infectious disease" EXACT [] synonym: "SARS-CoV infection" EXACT [DOID:2945] xref: DOID:2945 {source="EFO:0000694", source="MONDO:equivalentTo"} xref: EFO:0000694 {source="MONDO:equivalentTo"} +xref: GARD:9237 {source="Orphanet:140896"} xref: ICD10CM:J12.81 {source="DOID:2945"} xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"} xref: MedDRA:10061982 {source="Orphanet:140896/e", source="Orphanet:140896"} @@ -87433,7 +87599,6 @@ relationship: excluded_subClassOf MONDO:0002176 {source="DOID:264"} ! obsolete c id: MONDO:0005095 name: spondyloarthropathy def: "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." [NCIT:C116778] -subset: gard_rare synonym: "seronegative spondyloarthropathy" EXACT [NCIT:C116778] synonym: "spondarthropathy" EXACT [DOID:1123] synonym: "spondylarthropathy" RELATED [GARD:0004971] @@ -87567,6 +87732,7 @@ property_value: IAO:0000589 "subarachnoid hemorrhage (disease)" xsd:string id: MONDO:0005100 name: systemic sclerosis def: "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." [NCIT:C72070] +subset: gard_rare {source="GARD:9748"} subset: ordo_disease {source="Orphanet:90291"} synonym: "diffuse Scleroderma" EXACT [NCIT:C72070] synonym: "diffuse sclerosis" EXACT [NCIT:C72070] @@ -87585,6 +87751,7 @@ synonym: "systemic scleroderma" EXACT [NCIT:C72070, Orphanet:90291] synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM:710.1, MONDO:0019564, NCIT:C72070] xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"} xref: EFO:0000717 {source="MONDO:equivalentTo", source="DOID:418"} +xref: GARD:9748 {source="Orphanet:90291"} xref: ICD10CM:M34.0 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD10CM:M34.1 {source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD10CM:M34.2 {source="Orphanet:90291/btnt", source="Orphanet:90291"} @@ -87671,6 +87838,7 @@ is_a: MONDO:0005089 {source="EFO:0000730", source="MONDO:Redundant", source="NCI id: MONDO:0005103 name: well-differentiated liposarcoma def: "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." [NCIT:P378] +subset: gard_rare {source="GARD:19721"} subset: ordo_histopathological_subtype {source="Orphanet:99971"} synonym: "ALT" EXACT ABBREVIATION [Orphanet:99971] synonym: "atypical lipoma" EXACT [Orphanet:99971] @@ -87681,6 +87849,7 @@ synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250] synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250] synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250] xref: EFO:0000736 {source="MONDO:equivalentTo"} +xref: GARD:19721 {source="Orphanet:99971"} xref: ICD10CM:C49.9 {source="Orphanet:99971/ntbt", source="Orphanet:99971"} xref: ICDO:8851/3 {source="NCIT:C4250"} xref: NCIT:C4250 {source="MONDO:equivalentObsolete", source="EFO:0000736"} @@ -88023,6 +88192,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600512"} ! inheri id: MONDO:0005116 name: Whipple disease def: "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." [NCIT:P378] +subset: gard_rare {source="GARD:7889"} subset: ordo_disease {source="Orphanet:3452"} synonym: "intestinal lipodystrophy" EXACT [DOID:8476, Orphanet:3452] synonym: "intestinal lipophagic granulomatosis" EXACT [Orphanet:3452] @@ -88035,6 +88205,7 @@ synonym: "Whipple disease" EXACT [MONDO:0018099] synonym: "Whipple's disease" RELATED [DOID:8476, ICD9CM:040.2] xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"} xref: EFO:0000775 {source="MONDO:equivalentTo"} +xref: GARD:7889 {source="Orphanet:3452"} xref: ICD10CM:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"} xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="Orphanet:3452/ntbt"} xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="Orphanet:3452/ntbt"} @@ -88071,7 +88242,6 @@ id: MONDO:0005118 name: human granulocytic ehrlichiosis def: "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." [Wikipedia:Human_granulocytic_anaplasmosis] comment: Human granulocytic ehrlichiosis (HGE) is also called human granulocytic anaplasmosis (HGA). -subset: gard_rare synonym: "HGE" BROAD ABBREVIATION [DOID:0050025, GARD:0000071] synonym: "human anaplasmosis caused by Anaplasma phagocytophilum" RELATED [] synonym: "human anaplasmosis due to Anaplasma phagocytophilum" EXACT [] @@ -88174,6 +88344,7 @@ is_obsolete: true id: MONDO:0005124 name: leprosy def: "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." [Orphanet:548] +subset: gard_rare {source="GARD:6886"} subset: ordo_disease {source="Orphanet:548"} synonym: "Hansen disease" EXACT [NCIT:C84824] synonym: "Hansen's disease" EXACT [NCIT:C84824] @@ -88182,6 +88353,7 @@ synonym: "Mycobacterium leprae disease or disorder" EXACT [] synonym: "Mycobacterium leprae infectious disease" EXACT [] xref: DOID:1024 {source="EFO:0001054", source="MONDO:equivalentTo"} xref: EFO:0001054 {source="DOID:1024", source="MONDO:equivalentTo"} +xref: GARD:6886 {source="Orphanet:548"} xref: ICD10CM:A30 {source="DOID:1024", source="MONDO:equivalentTo"} xref: ICD10CM:A30.0 {source="Orphanet:548/btnt", source="Orphanet:548"} xref: ICD10CM:A30.1 {source="Orphanet:548/btnt", source="Orphanet:548"} @@ -88489,12 +88661,13 @@ disjoint_from: MONDO:0005247 ! bacterial urinary tract infection id: MONDO:0005136 name: malaria def: "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." [https://rarediseases.info.nih.gov/diseases/6961/malaria] -subset: gard_rare {source="GARD:0006961"} +subset: gard_rare {source="GARD:6961"} subset: ordo_disease {source="Orphanet:673"} synonym: "induced malaria" NARROW EXCLUDE [DOID:12365] synonym: "plasmodiosis" RELATED [] xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"} xref: EFO:0001068 {source="MONDO:equivalentTo", source="DOID:12365"} +xref: GARD:6961 {source="Orphanet:673"} xref: ICD10CM:B50.0 {source="Orphanet:673/btnt"} xref: ICD10CM:B50.8 {source="Orphanet:673/btnt"} xref: ICD10CM:B50.9 {source="Orphanet:673/btnt"} @@ -88902,7 +89075,6 @@ relationship: excluded_subClassOf MONDO:0021199 {source="DOID:28", source="MONDO id: MONDO:0005152 name: hypopituitarism def: "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." [NCIT:C62591] -subset: gard_rare {source="GARD:0002917"} synonym: "pituitary hormone deficiency" EXACT [DOID:9406] synonym: "pituitary hypofunction" RELATED [DOID:9406] synonym: "pituitary insufficiency" EXACT [DOID:9406] @@ -88925,6 +89097,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2917/hypopit id: MONDO:0005153 name: cervical adenocarcinoma def: "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." [NCIT:C4029] +subset: gard_rare {source="GARD:20488"} subset: ordo_disease {source="Orphanet:213772"} synonym: "adenocarcinoma - cervix" EXACT [NCIT:C4029] synonym: "adenocarcinoma cervix uteri" EXACT [DOID:3702] @@ -88942,6 +89115,7 @@ synonym: "cervix uteri adenocarcinoma" EXACT [NCIT:C4029] synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4029] xref: DOID:3702 {source="MONDO:equivalentTo", source="EFO:0001416"} xref: EFO:0001416 {source="MONDO:equivalentTo"} +xref: GARD:20488 {source="Orphanet:213772"} xref: ICD10CM:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="Orphanet:213772/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213772", source="Orphanet:213772/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213772", source="Orphanet:213772/btnt"} @@ -89207,7 +89381,7 @@ intersection_of: MONDO:0100332 NCBITaxon:11723 ! disease has primary infectious id: MONDO:0005164 name: fibrosarcoma def: "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." [NCIT:C3043] -subset: gard_rare +subset: gard_rare {source="GARD:2327"} subset: ordo_disease {source="Orphanet:2030"} synonym: "fibrocytic tumor" BROAD [DOID:3355, NCIT:C7075] synonym: "fibrocytic tumour" BROAD OMO:0003005 [] @@ -89221,6 +89395,7 @@ synonym: "fibrous tissue neoplasm" EXACT [DOID:3355] synonym: "malignant fibromatous neoplasm" EXACT [NCIT:C3043] xref: DOID:3355 {source="EFO:0002087", source="MONDO:equivalentTo"} xref: EFO:0002087 {source="MONDO:equivalentTo"} +xref: GARD:2327 {source="Orphanet:2030"} xref: HP:0100244 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:2030/ntbt", source="Orphanet:2030"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -89538,12 +89713,14 @@ id: MONDO:0005181 name: progressive external ophthalmoplegia def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246] subset: disease_grouping +subset: gard_rare {source="GARD:4503"} subset: ordo_group_of_disorders synonym: "chronic progressive external ophthalmoplegia" RELATED [DOID:12558] synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [DOID:12558] synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD9CM:378.72] xref: DOID:12558 {source="MONDO:equivalentTo", source="EFO:0002509"} xref: EFO:0002509 {source="MONDO:equivalentTo"} +xref: GARD:4503 {source="Orphanet:520820"} xref: HP:0000590 {source="MONDO:otherHierarchy", source="EFO:0002509"} xref: ICD10CM:H49.4 {source="DOID:12558", source="MONDO:equivalentTo"} xref: ICD9:378.72 {source="DOID:12558", source="EFO:0002509"} @@ -89847,6 +90024,7 @@ id: MONDO:0005197 name: thymus neoplasm def: "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." [NCIT:C3412] subset: disease_grouping +subset: gard_rare {source="GARD:19767"} subset: ordo_group_of_disorders {source="Orphanet:100100"} synonym: "neoplasm of the Thymus" EXACT [NCIT:C3412] synonym: "neoplasm of Thymus" EXACT [NCIT:C3412] @@ -89868,6 +90046,7 @@ synonym: "tumour of the Thymus" EXACT OMO:0003005 [] synonym: "tumour of Thymus" EXACT OMO:0003005 [] synonym: "tumour of thymus" EXACT OMO:0003005 [] xref: EFO:0002626 {source="MONDO:equivalentTo"} +xref: GARD:19767 {source="Orphanet:100100"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12433 {source="ONCOTREE:THYMUS"} xref: NCIT:C3412 {source="MONDO:equivalentTo", source="EFO:0002626"} @@ -89884,6 +90063,7 @@ relationship: disease_has_location UBERON:0002370 {source="EFO:0000784"} ! thymu id: MONDO:0005198 name: vulvar intraepithelial neoplasia def: "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." [NCIT:P378] +subset: gard_rare {source="GARD:19876"} subset: ordo_disease {source="Orphanet:137583"} synonym: "intraepithelial neoplasia of the vulva" EXACT [NCIT:C4756] synonym: "intraepithelial neoplasia of vulva" EXACT [NCIT:C4756] @@ -89894,6 +90074,7 @@ synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583] synonym: "vulvar intraepithelial tumour" EXACT OMO:0003005 [] xref: EFO:0002627 {source="MONDO:equivalentTo"} +xref: GARD:19876 {source="Orphanet:137583"} xref: ICD10CM:D07.1 {source="Orphanet:137583/ntbt", source="Orphanet:137583"} xref: NCIT:C4756 {source="MONDO:equivalentTo", source="EFO:0002627"} xref: Orphanet:137583 {source="MONDO:equivalentTo"} @@ -89926,6 +90107,7 @@ id: MONDO:0005201 name: restrictive cardiomyopathy def: "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." [NCIT:C62798] subset: disease_grouping +subset: gard_rare {source="GARD:20531"} subset: ordo_group_of_disorders {source="Orphanet:217632"} synonym: "cardiomyopathy, constrictive" EXACT [DOID:397] synonym: "familial restrictive cardiomyopathy" NARROW [DOID:397] @@ -89933,6 +90115,7 @@ synonym: "primary restrictive cardiomyopathy" EXACT [DOID:397] synonym: "restrictive cardiomyopathy" EXACT [DOID:397, NCIT:C62798] xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"} xref: EFO:0002630 {source="MONDO:equivalentTo"} +xref: GARD:20531 {source="Orphanet:217632"} xref: ICD10CM:I42.5 {source="DOID:397"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038748 {source="Orphanet:217632/e", source="Orphanet:217632"} @@ -90084,7 +90267,7 @@ name: uterine corpus sarcoma alt_id: MONDO:0021422 def: "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." [NCIT:C6339] subset: disease_grouping -subset: gard_rare {source="GARD:0009383"} +subset: gard_rare {source="GARD:20476"} subset: ordo_group_of_disorders {source="Orphanet:213620"} synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location] synonym: "corpus uteri sarcoma" EXACT [NCIT:C6339] @@ -90104,6 +90287,7 @@ synonym: "uterine sarcoma/mesenchymal" RELATED [ONCOTREE:USARC] synonym: "uterus sarcoma" EXACT [NCIT:C6339] xref: DOID:5165 {source="MONDO:equivalentTo", source="EFO:0002914"} xref: EFO:0002914 {source="MONDO:equivalentTo"} +xref: GARD:20476 {source="Orphanet:213620"} xref: ICD10CM:C54.2 {source="Orphanet:213620/ntbt", source="Orphanet:213620"} xref: MedDRA:10039497 {source="Orphanet:213620", source="Orphanet:213620/e"} xref: NCIT:C6339 {source="MONDO:equivalentTo", source="EFO:0002914", source="DOID:5165"} @@ -90151,6 +90335,7 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0005212 name: rhabdomyosarcoma def: "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." [NCIT:C3359] +subset: gard_rare {source="GARD:11951"} subset: ordo_disease {source="Orphanet:780"} synonym: "rhabdomyosarcoma" EXACT CLINGEN_PREFERRED [MONDO:ambiguous, NCIT:C3359] synonym: "rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0019185] @@ -90158,6 +90343,7 @@ synonym: "rhabdomyosarcoma, malignant" EXACT [NCIT:C3359] synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [NCIT:C3359] xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"} xref: EFO:0002918 {source="MONDO:equivalentTo"} +xref: GARD:11951 {source="Orphanet:780"} xref: HP:0002859 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:780", source="Orphanet:780/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -90213,6 +90399,7 @@ intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva id: MONDO:0005215 name: vulvar carcinoma def: "A carcinoma that arises from epithelial cells of the mammalian vulva" [https://orcid.org/0000-0002-6601-2165] +subset: gard_rare {source="GARD:9349"} synonym: "cancer of the vulva" BROAD [NCIT:C4866] synonym: "cancer of vulva" BROAD [NCIT:C4866] synonym: "carcinoma of mammalian vulva" EXACT [MONDO:patterns/carcinoma] @@ -90227,6 +90414,7 @@ synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866] xref: DOID:1245 {source="EFO:0002921"} xref: DOID:1294 {source="MONDO:equivalentTo", source="EFO:0002921"} xref: EFO:0002921 {source="MONDO:equivalentTo"} +xref: GARD:9349 {source="Orphanet:494418"} xref: MESH:D014846 {source="EFO:0002921"} xref: NCIT:C4866 {source="MONDO:equivalentTo", source="EFO:0002921", source="DOID:1294"} xref: Orphanet:494418 {source="MONDO:equivalentTo"} @@ -90323,6 +90511,7 @@ relationship: excluded_subClassOf MONDO:0000620 {source="DOID:10354"} ! breast b id: MONDO:0005220 name: collecting duct carcinoma def: "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" [https://orcid.org/0000-0002-6601-2165] +subset: gard_rare {source="GARD:9573"} subset: ordo_disease {source="Orphanet:247203"} synonym: "BDC" EXACT ABBREVIATION [NCIT:C6194, Orphanet:247203] synonym: "Bellini carcinoma" EXACT [Orphanet:247203] @@ -90347,6 +90536,7 @@ synonym: "renal collecting duct carcinoma" EXACT [NCIT:C6194] synonym: "renal medullary carcinoma" RELATED [DOID:4464, NCIT:C7572] xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"} xref: EFO:0003016 {source="MONDO:equivalentTo"} +xref: GARD:9573 {source="Orphanet:247203"} xref: ICD10CM:C64 {source="Orphanet:247203/ntbt", source="Orphanet:247203"} xref: ICDO:8319/3 {source="NCIT:C6194"} xref: MESH:D002292 {source="DOID:4464", source="Orphanet:247203", source="Orphanet:247203/e"} @@ -90393,6 +90583,7 @@ id: MONDO:0005223 name: acute myeloid leukemia with minimal differentiation alt_id: MONDO:0020318 def: "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" [NCIT:C8460] +subset: gard_rare {source="GARD:19588"} subset: ordo_disease {source="Orphanet:98832"} synonym: "acute myeloblastic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460] @@ -90428,6 +90619,7 @@ synonym: "minimally differentiated acute myeloblastic leukaemia" EXACT OMO:00030 synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832] xref: DOID:0081085 {source="MONDO:equivalentTo"} xref: EFO:0003026 {source="MONDO:equivalentTo"} +xref: GARD:19588 {source="Orphanet:98832"} xref: ICD10CM:C92.0 {source="Orphanet:98832/ntbt", source="Orphanet:98832"} xref: ICDO:9872/3 {source="NCIT:C8460"} xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"} @@ -90442,7 +90634,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0005224 name: acute myeloblastic leukemia without maturation def: "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] -subset: gard_rare {source="GARD:0000526"} +subset: gard_rare {source="GARD:526"} subset: ordo_disease {source="Orphanet:98833"} synonym: "acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] @@ -90486,6 +90678,7 @@ synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249] xref: DOID:0081086 {source="MONDO:equivalentTo"} xref: EFO:0003027 {source="MONDO:equivalentTo"} +xref: GARD:526 {source="Orphanet:98833"} xref: ICD10CM:C92.0 {source="Orphanet:98833/ntbt", source="Orphanet:98833"} xref: ICDO:9873/3 {source="NCIT:C3249"} xref: NCIT:C3249 {source="EFO:0003027", source="MONDO:equivalentTo"} @@ -91359,6 +91552,7 @@ id: MONDO:0005272 name: myelodysplastic syndrome with single lineage dysplasia def: "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow." [doi:10.5772/intechopen.82532, https://orcid.org/0000-0002-4142-7153] comment: This disease was reclassified by the World Health Organization (WHO) in 2016. It was referred to as refractory cytopenia with unilineage dysplasia (RCUD) in the previous classification system. It includes refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), and refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis). +subset: gard_rare {source="GARD:19585"} subset: ordo_disease {source="Orphanet:98826"} synonym: "aregenerative anaemia" RELATED OMO:0003005 [] synonym: "aregenerative anemia" RELATED [NCIT:C2872] @@ -91368,6 +91562,7 @@ synonym: "RA" EXACT ABBREVIATION [NCIT:C2872] synonym: "refractory anaemia" EXACT OMO:0003005 [] synonym: "refractory anemia" EXACT [NCIT:C2872] xref: EFO:0003802 {source="MONDO:equivalentTo"} +xref: GARD:19585 {source="Orphanet:98826"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9980/3 {source="NCIT:C2872"} xref: MedDRA:10038269 {source="Orphanet:98826", source="Orphanet:98826/e"} @@ -91607,7 +91802,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005282 name: cutaneous lupus erythematosus def: "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." [NCIT:P378] -subset: gard_rare {source="GARD:0006225"} synonym: "lupus erythematosus, cutaneous" RELATED [GARD:0006225] xref: DOID:0050169 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: EFO:0003834 {source="MONDO:equivalentTo"} @@ -92209,11 +92403,13 @@ id: MONDO:0005308 name: ciliopathy def: "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." [http://en.wikipedia.org/wiki/Ciliopathy] subset: disease_grouping +subset: gard_rare {source="GARD:21544"} subset: ordo_group_of_disorders synonym: "ciliopathies" RELATED [GTR:AN0966173] synonym: "ciliopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0060340 {source="MONDO:equivalentTo", source="EFO:0003900"} xref: EFO:0003900 {source="MONDO:equivalentTo"} +xref: GARD:21544 {source="Orphanet:363250"} xref: GTR:AN0966173 xref: MESH:D002925 {source="EFO:0003900"} xref: Orphanet:363250 {source="MONDO:equivalentTo"} @@ -92289,7 +92485,9 @@ relationship: disease_has_location UBERON:0001637 {source="EFO:0000784"} ! arter id: MONDO:0005312 name: pouchitis def: "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." [MESH:D019449] +subset: gard_rare {source="GARD:20510"} xref: EFO:0003921 {source="MONDO:equivalentTo"} +xref: GARD:20510 {source="Orphanet:217067"} xref: ICD10CM:K91.850 {source="MONDO:equivalentTo"} xref: ICD9:569.71 {source="EFO:0003921"} xref: MESH:D019449 {source="MONDO:equivalentTo", source="EFO:0003921"} @@ -92302,11 +92500,13 @@ relationship: disease_has_location UBERON:0002116 {source="EFO:0000784"} ! ileum id: MONDO:0005313 name: necrotizing enterocolitis def: "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." [https://www.chla.org/necrotizing-enterocolitis] +subset: gard_rare {source="GARD:9767"} synonym: "NEC" EXACT ABBREVIATION [NCIT:C84915] synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915] synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915] synonym: "necrotizing enterocolitis in foetus or newborn" NARROW OMO:0003005 [] xref: EFO:0003928 {source="MONDO:equivalentTo"} +xref: GARD:9767 {source="Orphanet:391673"} xref: ICD9:777.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020345 {source="MONDO:equivalentTo", source="EFO:0003928"} xref: NCIT:C84915 {source="MONDO:equivalentTo", source="EFO:0003928"} @@ -92430,6 +92630,7 @@ relationship: disease_has_location UBERON:0000979 {source="EFO:0000784"} ! tibia id: MONDO:0005321 name: Fuchs' endothelial dystrophy def: "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." [Orphanet:98974] +subset: gard_rare {source="GARD:10018"} subset: ordo_disease {source="Orphanet:98974"} synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164] synonym: "Endoepithelial corneal dystrophy" EXACT [Orphanet:98974] @@ -92442,6 +92643,7 @@ synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555] synonym: "late hereditary endothelial dystrophy" EXACT [Orphanet:98974] xref: DOID:11555 {source="MONDO:equivalentTo", source="EFO:0003946"} xref: EFO:0003946 {source="DOID:11555", source="MONDO:equivalentTo"} +xref: GARD:10018 {source="Orphanet:98974"} xref: ICD10CM:H18.5 {source="Orphanet:98974/inclusion", source="Orphanet:98974", source="Orphanet:98974/ntbt"} xref: ICD10CM:H18.51 {source="DOID:11555"} xref: MESH:D005642 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} @@ -93240,7 +93442,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603278"} ! inheri id: MONDO:0005364 name: Graves disease def: "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." [GARD:0006549] -subset: gard_rare {source="GARD:0006549"} synonym: "Basedow disease" RELATED [GARD:0006549] synonym: "Basedow's disease" RELATED [DOID:12361] synonym: "exophthalmic goiter" EXACT [DOID:12361] @@ -93418,7 +93619,6 @@ intersection_of: disease_has_location UBERON:0000079 ! male reproductive system id: MONDO:0005373 name: meningococcal infection def: "Infections with bacteria of the species neisseria meningitidis." [MESH:D008589] -subset: gard_rare {source="GARD:0009547"} synonym: "infections, Neisseria meningitidis" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "meningococcal disease" RELATED [GARD:0007169] synonym: "Neisseria meningitidis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] @@ -93605,6 +93805,7 @@ id: MONDO:0005380 name: osteonecrosis def: "A none disease characterized by death of bone tissue due to a lack of blood supply." [https://www.mayoclinic.org/diseases-conditions/avascular-necrosis/symptoms-causes/syc-20369859] subset: disease_grouping +subset: gard_rare {source="GARD:21657"} subset: ordo_group_of_disorders {source="Orphanet:399158"} synonym: "aseptic necrosis" EXACT [DOID:10159] synonym: "bone necrosis" EXACT [DOID:10159, NCIT:C34880, Orphanet:399158] @@ -93614,6 +93815,7 @@ synonym: "osteonecrosis" EXACT [NCIT:C34880] xref: DOID:0080008 {source="MONDO:equivalentTo"} xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0004259 {source="MONDO:equivalentTo"} +xref: GARD:21657 {source="Orphanet:399158"} xref: ICD10CM:M87 {source="DOID:10159", source="MONDO:equivalentTo"} xref: ICD10CM:M87.0 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} xref: ICD10CM:M87.1 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} @@ -93870,6 +94072,7 @@ is_a: MONDO:0005558 {source="DOID:5426", source="EFO:0004266/inferred", source=" id: MONDO:0005388 name: primary biliary cholangitis def: "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." [Orphanet:186] +subset: gard_rare {source="GARD:7459"} subset: ordo_disease {source="Orphanet:186"} synonym: "biliary cirrhosis, primary" RELATED [OMIMPS:109720] synonym: "biliary liver cirrhosis" EXACT [DOID:12236] @@ -93883,6 +94086,7 @@ synonym: "primary Bilary cirrhosis (PBC)" EXACT [NCIT:C27167] synonym: "primary biliary cirrhosis" EXACT [Orphanet:186] xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"} xref: EFO:0004267 {source="MONDO:equivalentTo", source="DOID:12236"} +xref: GARD:7459 {source="Orphanet:186"} xref: ICD10CM:K74.3 {source="Orphanet:186/e", source="Orphanet:186", source="DOID:12236"} xref: ICD10CM:K74.5 {source="DOID:12236"} xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"} @@ -94692,13 +94896,14 @@ id: MONDO:0005440 name: embryonal carcinoma def: "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." [NCIT:C3752] comment: Editor note: TODO check classification w.r.t carcinoma -subset: gard_rare {source="GARD:0005140"} +subset: gard_rare {source="GARD:5140"} subset: ordo_disease {source="Orphanet:180226"} synonym: "carcinoma, embryonal, malignant" EXACT [NCIT:C3752] synonym: "embryonal carcinoma" EXACT [MONDO:0015862, NCIT:C3752] synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308] xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"} xref: EFO:0004986 {source="MONDO:equivalentTo"} +xref: GARD:5140 {source="Orphanet:180226"} xref: ICD10CM:C22.7 {source="Orphanet:180226/btnt", source="Orphanet:180226"} xref: ICD10CM:C71.9 {source="Orphanet:180226/btnt", source="Orphanet:180226"} xref: ICDO:9070/3 {source="NCIT:C3752"} @@ -95034,6 +95239,7 @@ id: MONDO:0005459 name: human African trypanosomiasis alt_id: MONDO:0018073 def: "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." [NCIT:P378] +subset: gard_rare {source="GARD:7826"} subset: ordo_disease {source="Orphanet:3385"} synonym: "Africam sleeping sickness" EXACT [MONDO:cjm] synonym: "African sleeping sickness" EXACT [DOID:10112] @@ -95041,6 +95247,7 @@ synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE] synonym: "sleeping sickness" EXACT [DOID:10112, Orphanet:3385] xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"} xref: EFO:0005225 {source="MONDO:equivalentTo"} +xref: GARD:7826 {source="Orphanet:3385"} xref: ICD10CM:B56 {source="DOID:10112"} xref: ICD10CM:B56.0 {source="Orphanet:3385/btnt", source="Orphanet:3385"} xref: ICD10CM:B56.1 {source="Orphanet:3385/btnt", source="Orphanet:3385"} @@ -95466,6 +95673,7 @@ is_a: MONDO:0005084 {source="EFO:0005407"} ! mental disorder id: MONDO:0005486 name: tooth agenesis def: "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." [https://orcid.org/0000-0001-5208-3432, Orphanet:99798] +subset: gard_rare {source="GARD:16908"} subset: ordo_morphological_anomaly {source="Orphanet:99798"} synonym: "familial tooth agenesis" EXACT [DOID:0050591] synonym: "hypodontia" EXACT [DOID:0050591, Orphanet:2227] @@ -95474,6 +95682,7 @@ synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798] synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600] xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"} xref: EFO:0005410 {source="MONDO:equivalentTo"} +xref: GARD:16908 {source="Orphanet:99798"} xref: ICD10CM:K00.0 {source="Orphanet:99798/ntbt", source="Orphanet:99798", source="DOID:0050591", source="MONDO:directSiblingOf", source="Orphanet:99798/inclusion"} xref: ICD9:520.0 {source="DOID:0050591"} xref: MESH:D000848 {source="DOID:0050591", source="MONDO:directSiblingOf"} @@ -95701,7 +95910,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0060348 ! bone developmen id: MONDO:0005498 name: botulism def: "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." [NCIT:C84599] -subset: gard_rare {source="GARD:0000943"} +subset: gard_rare {source="GARD:943"} subset: ordo_disease {source="Orphanet:1267"} synonym: "botulism" EXACT [NCIT:C84599] synonym: "botulism poisoning" EXACT [DOID:11976] @@ -95715,6 +95924,7 @@ synonym: "wound botulism (subtype)" NARROW [GARD:0000943] xref: CSP:5000-0060 {source="DOID:11976"} xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"} xref: EFO:0005542 {source="MONDO:equivalentTo"} +xref: GARD:943 {source="Orphanet:1267"} xref: ICD10CM:A05.1 {source="DOID:11976", source="Orphanet:1267", source="Orphanet:1267/e"} xref: MedDRA:10006041 {source="Orphanet:1267", source="Orphanet:1267/e"} xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e"} @@ -95822,6 +96032,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212066"} ! inheri id: MONDO:0005502 name: dengue disease def: "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." [Orphanet:99828] +subset: gard_rare {source="GARD:6254"} subset: ordo_disease {source="Orphanet:99828"} synonym: "break bone fever" EXACT [NCIT:C34528] synonym: "breakbone fever" EXACT [DOID:12205] @@ -95840,6 +96051,7 @@ synonym: "Singapore hemorrhagic fever" RELATED [GARD:0006254] synonym: "Thai hemorrhagic fever" RELATED [GARD:0006254] xref: DOID:12205 {source="MONDO:equivalentTo", source="EFO:0005547"} xref: EFO:0005547 {source="MONDO:equivalentTo"} +xref: GARD:6254 {source="Orphanet:99828"} xref: ICD10CM:A90 {source="DOID:12205"} xref: ICD9:061 {source="DOID:12205", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012310 {source="Orphanet:99828/e", source="Orphanet:99828"} @@ -95879,11 +96091,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005504 name: diphtheria def: "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." [NCIT:P378] -subset: gard_rare {source="GARD:0001875"} +subset: gard_rare {source="GARD:1875"} subset: ordo_disease {source="Orphanet:1679"} synonym: "Corynebacterium infection" EXACT [DOID:11405] xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: EFO:0005549 {source="MONDO:equivalentTo"} +xref: GARD:1875 {source="Orphanet:1679"} xref: ICD10CM:A36 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.0 {source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD10CM:A36.1 {source="Orphanet:1679", source="Orphanet:1679/btnt"} @@ -95913,7 +96126,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1875/diphthe id: MONDO:0005505 name: dysembryoplastic neuroepithelial tumor def: "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" [EFO:0005551] -subset: gard_rare {source="GARD:0010640"} +subset: gard_rare {source="GARD:10640"} subset: ordo_disease {source="Orphanet:251946"} synonym: "DNET" EXACT ABBREVIATION [Orphanet:251946] synonym: "DNT" EXACT ABBREVIATION [NCIT:C9505, ONCOTREE:DNT] @@ -95922,6 +96135,7 @@ synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXAC synonym: "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"} xref: EFO:0005551 {source="MONDO:equivalentTo"} +xref: GARD:10640 {source="Orphanet:251946"} xref: ICDO:9413/0 {source="NCIT:C9505"} xref: NCIT:C9505 {source="MONDO:equivalentTo", source="DOID:2679", source="MONDO:exact-label-match", source="EFO:0005551"} xref: ONCOTREE:DNT {source="MONDO:equivalentTo"} @@ -96018,7 +96232,7 @@ id: MONDO:0005508 name: hereditary multiple osteochondromas def: "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." [Orphanet:321] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) -subset: gard_rare +subset: gard_rare {source="GARD:7035"} subset: ordo_disease {source="Orphanet:321"} synonym: "Bessel-Hagen disease" EXACT [Orphanet:321] synonym: "exostoses, multiple" EXACT [] @@ -96038,6 +96252,7 @@ synonym: "osteochondromatosis syndrome" EXACT [DOID:206] synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206] xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"} xref: EFO:0005560 {source="MONDO:equivalentTo"} +xref: GARD:7035 {source="Orphanet:321"} xref: ICD10CM:Q78.6 {source="Orphanet:321/specific", source="DOID:206", source="Orphanet:321/e", source="Orphanet:321"} xref: MESH:D005097 {source="DOID:206", source="MONDO:equivalentTo"} xref: NCIT:C5183 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"} @@ -96110,6 +96325,7 @@ is_a: MONDO:0015974 {source="DOID:0060008"} ! severe combined immunodeficiency id: MONDO:0005512 name: malignant peritoneal mesothelioma def: "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." [EFO:0005567] +subset: gard_rare {source="GARD:20102"} subset: ordo_disease {source="Orphanet:168811"} synonym: "advanced malignant mesothelioma of peritoneum" EXACT [DOID:1788, NCIT:C8704] synonym: "advanced malignant mesothelioma of the peritoneum" EXACT [NCIT:C8704] @@ -96125,6 +96341,7 @@ synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/loc synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811] xref: DOID:1788 {source="EFO:0005567", source="MONDO:equivalentTo"} xref: EFO:0005567 {source="MONDO:equivalentTo"} +xref: GARD:20102 {source="Orphanet:168811"} xref: ICD10CM:C45.1 {source="Orphanet:168811", source="Orphanet:168811/e"} xref: MedDRA:10056558 {source="Orphanet:168811", source="Orphanet:168811/e"} xref: NCIT:C8704 {source="MONDO:equivalentTo"} @@ -96149,8 +96366,10 @@ replaced_by: MONDO:0009354 id: MONDO:0005514 name: nanophthalmia def: "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [Orphanet:35612] +subset: gard_rare {source="GARD:16637"} subset: ordo_malformation_syndrome {source="Orphanet:35612"} xref: DOID:0080634 {source="MONDO:equivalentTo"} +xref: GARD:16637 {source="Orphanet:35612"} xref: OMIMPS:600165 {source="MONDO:equivalentTo", source="DOID:0080634"} xref: Orphanet:35612 {source="MONDO:equivalentTo", source="DOID:10629", source="DOID:0080634"} xref: SCTID:716775009 {source="MONDO:equivalentTo"} @@ -96354,7 +96573,6 @@ relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidne id: MONDO:0005520 name: rickets def: "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." [NCIT:P378] -subset: gard_rare synonym: "active rickets" RELATED [DOID:10609] synonym: "hypovitaminosis D" RELATED [GARD:0005700] synonym: "nutritional rickets" RELATED [GARD:0005700] @@ -96478,7 +96696,7 @@ id: MONDO:0005526 name: tetanus def: "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." [NCIT:P378] comment: We treat tetanus and infection due to Clostridium tetani as synonymous -subset: gard_rare {source="GARD:0005144"} +subset: gard_rare {source="GARD:5144"} subset: ordo_disease {source="Orphanet:3299"} synonym: "clostridial tetanus" EXACT [DOID:11338] synonym: "Clostridium tetani caused infectious disease of the nervous system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -96487,6 +96705,7 @@ synonym: "infection due to Clostridium tetani" EXACT [DOID:11338] synonym: "lockjaw" RELATED [GARD:0005144] xref: DOID:11338 {source="MONDO:equivalentTo", source="EFO:0005593"} xref: EFO:0005593 {source="MONDO:equivalentTo"} +xref: GARD:5144 {source="Orphanet:3299"} xref: ICD10CM:A33 {source="Orphanet:3299", source="Orphanet:3299/btnt"} xref: ICD10CM:A34 {source="Orphanet:3299", source="Orphanet:3299/btnt"} xref: ICD10CM:A35 {source="Orphanet:3299", source="DOID:11338", source="Orphanet:3299/btnt"} @@ -96758,8 +96977,10 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0005543 name: autoimmune hepatitis type 1 def: "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA)." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/] +subset: gard_rare {source="GARD:22251"} synonym: "autoimmune hepatitis type 1" EXACT [] synonym: "type 1 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] +xref: GARD:22251 {source="Orphanet:563576"} xref: ICD9:571.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:563576 {source="MONDO:equivalentTo"} xref: SCTID:197284004 {source="MONDO:equivalentTo"} @@ -96987,7 +97208,6 @@ is_a: MONDO:0000926 {source="DOID:10033"} ! eye accommodation disease id: MONDO:0005556 name: lupus nephritis def: "Glomerulonephritis in the context of systemic lupus erythematosus." [NCIT:C34789] -subset: gard_rare {source="GARD:0010747"} synonym: "Glomerulonephritides, lupus" RELATED [MESH:D008181] synonym: "glomerulonephritis, lupus" RELATED [MESH:D008181] synonym: "lupus Glomerulonephritides" RELATED [MESH:D008181] @@ -97155,6 +97375,7 @@ is_a: MONDO:0020678 {source="MONDO:cjm"} ! sensorineural hearing loss disorder id: MONDO:0005563 name: nut midline carcinoma def: "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." [NCIT:C45716] +subset: gard_rare {source="GARD:21852"} subset: ordo_disease {source="Orphanet:443167"} synonym: "carcinoma with t(15;19)(q13;p13.1) translocation" EXACT [NCIT:C45716] synonym: "Midline carcinoma of children and Young adults with NUT rearrangement" EXACT [NCIT:C45716] @@ -97165,6 +97386,7 @@ synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716] synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN] xref: DOID:0060463 {source="MONDO:equivalentTo"} xref: EFO:0005783 {source="MONDO:equivalentTo"} +xref: GARD:21852 {source="Orphanet:443167"} xref: ICD10CM:C80.9 {source="Orphanet:443167", source="Orphanet:443167/ntbt"} xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:NMCHN {source="MONDO:equivalentTo"} @@ -97321,6 +97543,7 @@ name: hematologic disorder def: "A disease involving the hematopoietic system." [https://orcid.org/0000-0002-6601-2165] comment: placeholder for lymphoid disease {source="EFO:0005803"} subset: disease_grouping +subset: gard_rare {source="GARD:22522"} subset: ordo_group_of_disorders {source="Orphanet:97992"} subset: rare_grouping synonym: "blood disease" EXACT [DOID:74] @@ -97353,6 +97576,7 @@ synonym: "hematopoietic system disease or disorder" EXACT [MONDO:design_pattern, synonym: "rare hematologic disease" EXACT [MONDO:0020006] xref: DOID:74 {source="MONDO:equivalentTo", source="EFO:0005803"} xref: EFO:0005803 {source="MONDO:equivalentTo"} +xref: GARD:22522 {source="Orphanet:97992"} xref: GTR:AN1320635 xref: ICD10CM:D50-D89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:D70-D77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -97385,12 +97609,14 @@ id: MONDO:0005571 name: polycythemia def: "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." [NCIT:C26863] subset: disease_grouping +subset: gard_rare {source="GARD:19466"} subset: ordo_group_of_disorders {source="Orphanet:98427"} synonym: "erythrocythemia" EXACT [DOID:8432] synonym: "polycythemia" EXACT [NCIT:C26863] synonym: "polycythemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"} xref: EFO:0005804 {source="MONDO:equivalentTo"} +xref: GARD:19466 {source="Orphanet:98427"} xref: HP:0001901 {source="MONDO:otherHierarchy"} xref: ICD10CM:D75.1 {source="DOID:8432"} xref: MedDRA:10036051 {source="Orphanet:98427", source="Orphanet:98427/e"} @@ -97508,7 +97734,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005576 name: cryoglobulinemia def: "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." [https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia] -subset: gard_rare {source="GARD:0006217"} synonym: "cryoglobulinemia" EXACT [DOID:2917, MTH:NOCODE] synonym: "Cryoimmunoglobulinaemia" EXACT [DOID:2917] xref: DOID:2917 {source="MONDO:equivalentTo", source="EFO:0005846"} @@ -97592,6 +97817,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005580 name: esophageal squamous cell carcinoma def: "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." [Orphanet:99977] +subset: gard_rare {source="GARD:18901"} subset: ordo_disease {source="Orphanet:99977"} synonym: "ESCC" EXACT ABBREVIATION [NCIT:C4024, ONCOTREE:ESCC, Orphanet:99977] synonym: "esophageal epidermoid carcinoma" EXACT [NCIT:C4024, Orphanet:99977] @@ -97615,6 +97841,7 @@ synonym: "squamous cell carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"} xref: DOID:5041 {source="EFO:0005922"} xref: EFO:0005922 {source="MONDO:equivalentTo"} +xref: GARD:18901 {source="Orphanet:99977"} xref: ICD10CM:C15.3 {source="Orphanet:99977/btnt", source="Orphanet:99977"} xref: ICD10CM:C15.4 {source="Orphanet:99977/btnt", source="Orphanet:99977"} xref: MESH:C562729 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748"} @@ -97823,6 +98050,7 @@ is_a: MONDO:0005093 {source="EFO:0006346"} ! skin disorder id: MONDO:0005595 name: laryngeal squamous cell carcinoma def: "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." [NCIT:C4044] +subset: gard_rare {source="GARD:17908"} subset: ordo_disease synonym: "epidermoid carcinoma of larynx" EXACT [NCIT:C4044] synonym: "epidermoid carcinoma of the larynx" EXACT [DOID:2876, NCIT:C4044] @@ -97836,6 +98064,7 @@ synonym: "squamous cell carcinoma of larynx" EXACT [NCIT:C4044] synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044] xref: DOID:2876 {source="MONDO:equivalentTo", source="EFO:0006352"} xref: EFO:0006352 {source="MONDO:equivalentTo"} +xref: GARD:17908 {source="Orphanet:494550"} xref: NCIT:C4044 {source="MONDO:equivalentTo", source="DOID:2876", source="MONDO:exact-label-match", source="EFO:0006352"} xref: ONCOTREE:LXSC {source="MONDO:equivalentTo"} xref: Orphanet:494550 {source="MONDO:equivalentTo"} @@ -97910,6 +98139,7 @@ replaced_by: MONDO:0002752 id: MONDO:0005601 name: ovarian mucinous adenocarcinoma def: "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." [NCIT:C5243] +subset: gard_rare {source="GARD:21651"} subset: ordo_disease {source="Orphanet:398961"} synonym: "mucinous adenocarcinoma of ovary" EXACT [MONDO:0018366, NCIT:C5243] synonym: "mucinous adenocarcinoma of the ovary" EXACT [NCIT:C5243] @@ -97920,6 +98150,7 @@ synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243] synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"} xref: EFO:0006462 {source="MONDO:equivalentTo"} +xref: GARD:21651 {source="Orphanet:398961"} xref: ICD10CM:C56 {source="Orphanet:398961/ntbt", source="Orphanet:398961"} xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOID:3606"} xref: Orphanet:398961 {source="MONDO:equivalentTo"} @@ -98162,6 +98393,7 @@ id: MONDO:0005615 name: plasmacytoma def: "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." [Orphanet:86855] comment: alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. {source="EFO:0006738"} +subset: gard_rare {source="GARD:13446"} subset: ordo_disease {source="Orphanet:86855"} synonym: "anaplastic plasmacytoma" RELATED [GARD:0007404] synonym: "anaplastic skeletal plasmacytoma (type)" RELATED [GARD:0007404] @@ -98174,6 +98406,7 @@ synonym: "solitary myeloma" RELATED [DOID:3721] synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855] xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"} xref: EFO:0006738 {source="MONDO:equivalentTo"} +xref: GARD:13446 {source="Orphanet:86855"} xref: ICD10CM:C90.2 {source="Orphanet:86855", source="Orphanet:86855/btnt"} xref: ICD10CM:C90.3 {source="DOID:3721", source="Orphanet:86855", source="Orphanet:86855/btnt"} xref: ICD10CM:C90.30 {source="DOID:3721"} @@ -98263,12 +98496,14 @@ id: MONDO:0005619 name: typhoid fever alt_id: MONDO:0020486 def: "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." [NCIT:P378] +subset: gard_rare {source="GARD:9564"} subset: ordo_disease {source="Orphanet:99745"} synonym: "typhoid" EXACT [DOID:13258] synonym: "typhoid fever" EXACT [Orphanet:99745] synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745] xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"} xref: EFO:0006789 {source="MONDO:equivalentTo"} +xref: GARD:9564 {source="Orphanet:99745"} xref: ICD10CM:A01.0 {source="Orphanet:99745", source="Orphanet:99745/e", source="DOID:13258"} xref: ICD10CM:A01.00 {source="DOID:13258"} xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13258"} @@ -98298,6 +98533,7 @@ relationship: disease_has_infectious_agent NCBITaxon:28901 {source="MONDO:Wikida id: MONDO:0005620 name: cerebral amyloid angiopathy def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." [Orphanet:85458] +subset: gard_rare {source="GARD:10266"} subset: ordo_disease {source="Orphanet:85458"} synonym: "CAA, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266] @@ -98308,6 +98544,7 @@ synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT O synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246] xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: EFO:0006790 {source="MONDO:equivalentTo"} +xref: GARD:10266 {source="Orphanet:85458"} xref: ICD10CM:I68.0 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} @@ -98503,12 +98740,13 @@ intersection_of: disease_has_location UBERON:0016410 ! male breast id: MONDO:0005629 name: Acanthamoeba keratitis def: "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." [NCIT:C50450] -subset: gard_rare {source="GARD:0009285"} +subset: gard_rare {source="GARD:9285"} subset: ordo_disease {source="Orphanet:67043"} synonym: "Acanthamoeba caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450] xref: DOID:11896 {source="EFO:0007126", source="MONDO:obsolete"} xref: EFO:0007126 {source="MONDO:equivalentTo"} +xref: GARD:9285 {source="Orphanet:67043"} xref: ICD10EXP:B60.1+ {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD10EXP:H19.2* {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -98554,7 +98792,7 @@ property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4 id: MONDO:0005631 name: actinomycosis def: "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." [https://rarediseases.info.nih.gov/diseases/5728/actinomycosis] -subset: gard_rare {source="GARD:0005728"} +subset: gard_rare {source="GARD:5728"} subset: ordo_disease {source="Orphanet:457095"} synonym: "Actinomyces infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Actinomyces israeli" RELATED [GARD:0005728] @@ -98572,6 +98810,7 @@ synonym: "Keratoactinomycosis" RELATED [GARD:0005728] synonym: "Madura foot due to Actinomadura" EXACT [DOID:8478] xref: DOID:8478 {source="EFO:0007128", source="MONDO:equivalentTo"} xref: EFO:0007128 {source="MONDO:equivalentTo"} +xref: GARD:5728 {source="Orphanet:457095"} xref: ICD10CM:A42 {source="DOID:8478"} xref: ICD10CM:A42.0 {source="Orphanet:457095", source="Orphanet:457095/btnt"} xref: ICD10CM:A42.1 {source="Orphanet:457095", source="Orphanet:457095/btnt"} @@ -98699,7 +98938,6 @@ replaced_by: MONDO:0019355 id: MONDO:0005638 name: agnosia def: "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." [NCIT:C84542] -subset: gard_rare {source="GARD:0000008"} synonym: "agnosia" EXACT [NCIT:C84542] synonym: "dyspraxia" RELATED EXCLUDE [DOID:4090] synonym: "dyspraxia (finding)" RELATED [DOID:4090] @@ -98728,7 +98966,7 @@ xref: UMLS:C0001816 {source="DOID:4090", source="MONDO:notFoundInDiseaseSubset", xref: UMLS:C0003635 {source="DOID:4090", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0024417 {source="MESH:D000377", source="MONDO:Entailed", source="MONDO:Redundant"} ! perceptual disorders intersection_of: MONDO:0024417 ! perceptual disorders -intersection_of: disease_has_major_feature HP:0010524 ! Agnosia +intersection_of: disease_has_major_feature HP:0010524 ! Disturbed sensory perception relationship: disease_disrupts NBO:0000551 ! visual object recognition relationship: excluded_subClassOf MONDO:0002182 {source="DOID:4090"} ! communication disorder property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8/agnosia" xsd:anyURI {source="GARD:0000008"} @@ -98848,6 +99086,7 @@ relationship: disease_has_infectious_agent NCBITaxon:5759 {source="MONDO:Wikidat id: MONDO:0005645 name: ancylostomiasis def: "Infection by hookworms of the genus Ancylostoma." [NCIT:P378] +subset: gard_rare {source="GARD:9742"} subset: ordo_disease {source="Orphanet:78"} synonym: "Ancylostoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ancylostoma disease or disorder" EXACT [] @@ -98856,6 +99095,7 @@ synonym: "Ancylostoma infectious disease" EXACT [] synonym: "hookworm infection" BROAD [Orphanet:78] xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"} xref: EFO:0007145 {source="MONDO:equivalentTo"} +xref: GARD:9742 {source="Orphanet:78"} xref: ICD10CM:B76.0 {source="Orphanet:78", source="Orphanet:78/btnt", source="DOID:12841"} xref: ICD10CM:B76.1 {source="Orphanet:78", source="Orphanet:78/btnt", source="MONDO:directSiblingOf"} xref: ICD10CM:B76.8 {source="Orphanet:78", source="Orphanet:78/btnt"} @@ -99115,12 +99355,13 @@ intersection_of: disease_has_infectious_agent NCBITaxon:6249 ! Ascaridomorpha id: MONDO:0005657 name: aspergillosis def: "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." [https://rarediseases.info.nih.gov/diseases/5856/aspergillosis] -subset: gard_rare {source="GARD:0005856"} +subset: gard_rare {source="GARD:5856"} subset: ordo_disease {source="Orphanet:1163"} synonym: "infection due to Aspergillus" EXACT [DOID:13564] xref: CSP:1988-4002 {source="DOID:13564"} xref: DOID:13564 {source="MONDO:equivalentTo", source="EFO:0007157"} xref: EFO:0007157 {source="MONDO:equivalentTo"} +xref: GARD:5856 {source="Orphanet:1163"} xref: ICD10CM:B44 {source="MONDO:equivalentTo", source="DOID:13564"} xref: ICD10CM:B44.0 {source="Orphanet:1163/btnt", source="Orphanet:1163"} xref: ICD10CM:B44.1 {source="Orphanet:1163/btnt", source="Orphanet:1163"} @@ -99193,7 +99434,7 @@ intersection_of: MONDO:0100332 NCBITaxon:260963 ! disease has primary infectious id: MONDO:0005661 name: babesiosis def: "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." [https://rarediseases.info.nih.gov/diseases/5878/babesiosis] -subset: gard_rare {source="GARD:0005878"} +subset: gard_rare {source="GARD:5878"} subset: ordo_disease {source="Orphanet:108"} synonym: "Babesia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Babesia disease or disorder" EXACT [] @@ -99205,6 +99446,7 @@ synonym: "infection by Babesia" EXACT [DOID:9643] synonym: "piroplasmosis" EXACT [DOID:9643] xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"} xref: EFO:0007162 {source="MONDO:equivalentTo"} +xref: GARD:5878 {source="Orphanet:108"} xref: ICD10CM:B60.0 {source="Orphanet:108", source="MONDO:equivalentTo", source="Orphanet:108/e", source="DOID:9643"} xref: ICD9:088.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9643"} xref: MedDRA:10003965 {source="Orphanet:108", source="Orphanet:108/e"} @@ -99230,7 +99472,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5878/babesio id: MONDO:0005662 name: balantidiasis def: "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." [MESH:D001447] -subset: gard_rare {source="GARD:0000809"} +subset: gard_rare {source="GARD:809"} subset: ordo_disease {source="Orphanet:1223"} synonym: "B coli infection" RELATED [GARD:0000809] synonym: "Balantidiases" RELATED [MESH:D001447] @@ -99241,6 +99483,7 @@ synonym: "Human balantidiasis" RELATED [GARD:0000809] synonym: "large-intestinal infection with Balantidium coli" RELATED [GARD:0000809] xref: DOID:12386 {source="MONDO:equivalentTo", source="EFO:0007163"} xref: EFO:0007163 {source="MONDO:equivalentTo"} +xref: GARD:809 {source="Orphanet:1223"} xref: ICD10CM:A07.0 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="Orphanet:1223/e"} xref: ICD9:007.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12386"} xref: MedDRA:10004080 {source="Orphanet:1223", source="Orphanet:1223/e"} @@ -99377,6 +99620,7 @@ relationship: disease_has_location UBERON:0004915 ! sphincter of hepatopancreati id: MONDO:0005668 name: bird fancier's lung def: "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:C34425] +subset: gard_rare {source="GARD:16924"} subset: ordo_disease {source="Orphanet:99908"} synonym: "Avian hypersensitivity pneumonitis" EXACT [DOID:13891, NCIT:C34425] synonym: "bird breeder's lung" EXACT [DOID:13891] @@ -99391,6 +99635,7 @@ synonym: "pigeon-breeder's lung" EXACT [NCIT:C34425] synonym: "poultry worker's lung" RELATED [DOID:13891] xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"} xref: EFO:0007170 {source="MONDO:equivalentTo"} +xref: GARD:16924 {source="Orphanet:99908"} xref: ICD10CM:J67.2 {source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908/ntbt", source="Orphanet:99908"} xref: ICD9:495.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13891"} xref: MedDRA:10004941 {source="Orphanet:99908/e", source="Orphanet:99908"} @@ -99464,7 +99709,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:12967 ! Blastocystis id: MONDO:0005672 name: blastomycosis def: "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." [https://rarediseases.info.nih.gov/diseases/5931/blastomycosis] -subset: gard_rare {source="GARD:0005931"} synonym: "Blastomyces dermatitidis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Blastomyces dermatitidis disease or disorder" EXACT [] synonym: "Blastomyces dermatitidis infection" EXACT [DOID:12663, NCIT:C34429] @@ -99525,6 +99769,7 @@ id: MONDO:0005674 name: bone giant cell tumor alt_id: MONDO:0018219 def: "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." [NCIT:C121932] +subset: gard_rare {source="GARD:13046"} subset: ordo_disease {source="Orphanet:363976"} synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932] synonym: "benign bone giant cell tumour" EXACT OMO:0003005 [] @@ -99544,6 +99789,7 @@ synonym: "osteoclastoma" RELATED [DOID:4305] synonym: "Osteoclastoma, benign" EXACT [NCIT:C121932] xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"} xref: EFO:0007176 {source="MONDO:equivalentTo"} +xref: GARD:13046 {source="Orphanet:363976"} xref: HP:0011847 {source="MONDO:otherHierarchy"} xref: ICD10CM:D48.0 {source="Orphanet:363976/ntbt", source="Orphanet:363976"} xref: MESH:D018212 {source="DOID:4305", source="MONDO:equivalentTo", source="EFO:0007176"} @@ -99628,6 +99874,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005680 name: Brill-Zinsser disease def: "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." [Wikipedia:Brill%E2%80%93Zinsser_disease] +subset: gard_rare {source="GARD:19725"} subset: ordo_clinical_subtype {source="Orphanet:99990"} synonym: "Brill disease" EXACT [Orphanet:99990] synonym: "Brill Zinsser disease" EXACT [DOID:11254] @@ -99637,6 +99884,7 @@ synonym: "recrudescent typhus" EXACT [DOID:11254, Orphanet:99990] synonym: "sporadic typhus" RELATED [DOID:11254] xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"} xref: EFO:0007182 {source="MONDO:equivalentTo"} +xref: GARD:19725 {source="Orphanet:99990"} xref: ICD10CM:A75.1 {source="Orphanet:99990/e", source="DOID:11254", source="Orphanet:99990"} xref: ICD9:081.1 {source="DOID:11254"} xref: MESH:D014438 {source="EFO:0007182", source="DOID:11254"} @@ -99680,7 +99928,7 @@ relationship: disease_has_feature HP:0002090 ! Pneumonia id: MONDO:0005683 name: brucellosis def: "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." [https://rarediseases.info.nih.gov/diseases/5966/brucellosis] -subset: gard_rare {source="GARD:0005966"} +subset: gard_rare {source="GARD:5966"} subset: ordo_disease {source="Orphanet:1304"} synonym: "bang's disease" RELATED [DOID:11077] synonym: "Cyprus fever" RELATED [GARD:0005966] @@ -99692,6 +99940,7 @@ synonym: "Rock fever" RELATED [GARD:0005966] synonym: "undulant fever" EXACT [DOID:11077] xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"} xref: EFO:0007185 {source="MONDO:equivalentTo"} +xref: GARD:5966 {source="Orphanet:1304"} xref: ICD10CM:A23 {source="MONDO:equivalentTo", source="DOID:11077"} xref: ICD10CM:A23.0 {source="Orphanet:1304", source="Orphanet:1304/btnt"} xref: ICD10CM:A23.1 {source="Orphanet:1304", source="Orphanet:1304/btnt"} @@ -99859,7 +100108,7 @@ intersection_of: MONDO:0100332 NCBITaxon:12103 ! disease has primary infectious id: MONDO:0005692 name: cat-scratch disease def: "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." [https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease] -subset: gard_rare {source="GARD:0000027"} +subset: gard_rare {source="GARD:27"} subset: ordo_disease {source="Orphanet:50839"} synonym: "bartonellosis due to Bartonella henselae infection" EXACT [Orphanet:50839] synonym: "benign lymphoreticulosis" EXACT [DOID:11258] @@ -99871,6 +100120,7 @@ synonym: "debre-Mollaret syndrome" EXACT [DOID:11258] synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258] xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"} xref: EFO:0007195 {source="MONDO:equivalentTo"} +xref: GARD:27 {source="Orphanet:50839"} xref: ICD10CM:A28.1 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839"} xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007729 {source="Orphanet:50839/e", source="Orphanet:50839"} @@ -99898,7 +100148,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/27/cat-scrat id: MONDO:0005693 name: cauda equina syndrome def: "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." [https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome] -subset: gard_rare {source="GARD:0010987"} synonym: "cauda equina syndromic disease" EXACT [MONDO:patterns/location] synonym: "syndromic disease of cauda equina" EXACT [MONDO:design_pattern] xref: DOID:11577 {source="MONDO:equivalentTo", source="EFO:0007196"} @@ -100167,6 +100416,7 @@ is_a: MONDO:0004664 {source="DOID:13767", source="ICD10CM:B66.1/inferred", sourc id: MONDO:0005706 name: coccidioidomycosis def: "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." [NCIT:P378] +subset: gard_rare {source="GARD:9525"} subset: ordo_disease {source="Orphanet:228123"} synonym: "California disease" EXACT [Orphanet:228123] synonym: "Coccidioides immitis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -100180,6 +100430,7 @@ synonym: "San Joaquin valley fever" EXACT [Orphanet:228123] synonym: "Valley fever" EXACT [Orphanet:228123] xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"} xref: EFO:0007211 {source="MONDO:equivalentTo"} +xref: GARD:9525 {source="Orphanet:228123"} xref: ICD10CM:B38 {source="MONDO:equivalentTo", source="DOID:13450"} xref: ICD10CM:B38.0 {source="Orphanet:228123/btnt", source="Orphanet:228123"} xref: ICD10CM:B38.1 {source="Orphanet:228123/btnt", source="Orphanet:228123"} @@ -100238,6 +100489,7 @@ id: MONDO:0005708 name: Colorado tick fever def: "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." [MESH:D003121] comment: Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature +subset: gard_rare {source="GARD:19042"} subset: ordo_disease {source="Orphanet:83595"} synonym: "American mountain fever" EXACT [Orphanet:83595] synonym: "Colorado tick encephalitis" EXACT [Orphanet:83595] @@ -100250,6 +100502,7 @@ synonym: "Mountain tick fever" EXACT [Orphanet:83595] synonym: "Tick fever, American mountain" EXACT [DOID:4885] xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"} xref: EFO:0007213 {source="MONDO:equivalentTo"} +xref: GARD:19042 {source="Orphanet:83595"} xref: ICD10CM:A93.2 {source="Orphanet:83595/ntbt", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo"} xref: ICD9:066.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010022 {source="Orphanet:83595", source="Orphanet:83595/e"} @@ -100301,11 +100554,13 @@ relationship: has_characteristic MONDO:0021137 ! not rare id: MONDO:0005710 name: composite lymphoma def: "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." [NCIT:C38661] +subset: gard_rare {source="GARD:20109"} subset: ordo_disease {source="Orphanet:168966"} synonym: "composite Hodgkin and non-Hodgkin lymphoma" EXACT [Orphanet:168966] synonym: "composite lymphoma" EXACT [NCIT:C38661] xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"} xref: EFO:0007215 {source="MONDO:equivalentTo"} +xref: GARD:20109 {source="Orphanet:168966"} xref: ICDO:9596/3 {source="NCIT:C38661"} xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -100318,6 +100573,7 @@ is_a: MONDO:0005062 {source="DOID:5820/inferred", source="EFO:0007215", source=" id: MONDO:0005711 name: congenital diaphragmatic hernia def: "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." [Orphanet:2140] +subset: gard_rare {source="GARD:1481"} subset: ordo_morphological_anomaly {source="Orphanet:2140"} synonym: "agenesis of hemidiaphragm" RELATED [GARD:0001481] synonym: "CDH" EXACT ABBREVIATION [Orphanet:2140] @@ -100327,6 +100583,7 @@ synonym: "diaphragmatic hernia" BROAD [DOID:3827, NCIT:C34687] synonym: "unilateral agenesis of diaphragm" RELATED [GARD:0001481] xref: DOID:3827 {source="EFO:0007216", source="MONDO:equivalentTo"} xref: EFO:0007216 {source="MONDO:equivalentTo"} +xref: GARD:1481 {source="Orphanet:2140"} xref: ICD10CM:K44 {source="DOID:3827"} xref: ICD10CM:K44.9 {source="DOID:3827"} xref: ICD10CM:Q79.0 {source="Orphanet:2140/e", source="Orphanet:2140"} @@ -100395,12 +100652,14 @@ replaced_by: MONDO:0017361 id: MONDO:0005714 name: congenital syphilis def: "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." [NCIT:P378] +subset: gard_rare {source="GARD:22036"} subset: ordo_disease synonym: "congenital syphilis" EXACT [MONDO:patterns/congenital] synonym: "mother-to-child transmission of syphilis" EXACT [Orphanet:499009] synonym: "MTCT of syphilis" EXACT [Orphanet:499009] xref: DOID:9856 {source="MONDO:equivalentTo", source="EFO:0007219"} xref: EFO:0007219 {source="MONDO:equivalentTo"} +xref: GARD:22036 {source="Orphanet:499009"} xref: ICD10CM:A50 {source="DOID:9856", source="MONDO:equivalentTo"} xref: ICD10CM:A50.9 {source="DOID:9856"} xref: ICD9:090 {source="DOID:9856"} @@ -100424,6 +100683,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005715 name: congenital toxoplasmosis def: "Toxoplasma infection that is present from birth." [NCIT:P378] +subset: gard_rare {source="GARD:18708"} subset: ordo_disease {source="Orphanet:858"} synonym: "congenital toxoplasmosis" EXACT [DOID:13336, MONDO:patterns/congenital] synonym: "mother-to-child transmission of toxoplasmosis" EXACT [Orphanet:858] @@ -100433,6 +100693,7 @@ synonym: "toxoplasmosis - congen." EXACT [DOID:13336] synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503] xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"} xref: EFO:0007220 {source="MONDO:equivalentTo"} +xref: GARD:18708 {source="Orphanet:858"} xref: ICD10CM:P37.1 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010652 {source="Orphanet:858", source="Orphanet:858/e"} @@ -100589,7 +100850,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:5207 ! Cryptococcus neof id: MONDO:0005724 name: cryptococcosis def: "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" [NCIT:P378] -subset: gard_rare {source="GARD:0006218"} +subset: gard_rare {source="GARD:6218"} subset: ordo_disease {source="Orphanet:1546"} synonym: "Busse-Buschke's disease" EXACT [DOID:12053] synonym: "Cryptococcal infection" EXACT [DOID:12053] @@ -100602,6 +100863,7 @@ synonym: "torula" EXACT [DOID:12053] synonym: "torulosis" EXACT [DOID:12053] xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"} xref: EFO:0007229 {source="MONDO:equivalentTo"} +xref: GARD:6218 {source="Orphanet:1546"} xref: ICD10CM:B45 {source="MONDO:equivalentTo", source="DOID:12053"} xref: ICD10CM:B45.0 {source="Orphanet:1546", source="Orphanet:1546/btnt"} xref: ICD10CM:B45.1 {source="Orphanet:1546", source="Orphanet:1546/btnt"} @@ -100636,6 +100898,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6218/cryptoc id: MONDO:0005725 name: cyclosporiasis def: "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." [NCIT:C128409] +subset: gard_rare {source="GARD:9528"} subset: ordo_disease {source="Orphanet:210"} synonym: "Cyclospora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cyclospora cayetanensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -100649,6 +100912,7 @@ synonym: "infection of intestine caused by Cyclospora cayetanensis" EXACT [] synonym: "intestinal infection caused by Cyclospora cayetanensis" EXACT [] xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"} xref: EFO:0007230 {source="MONDO:equivalentTo"} +xref: GARD:9528 {source="Orphanet:210"} xref: ICD10CM:A07.3 {source="Orphanet:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"} xref: ICD10CM:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"} xref: ICD9:007.5 {source="DOID:12750"} @@ -100755,7 +101019,6 @@ id: MONDO:0005731 name: dipetalonemiasis def: "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." [NCIT:P378] comment: Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms -subset: gard_rare synonym: "Acanthocheilonema perstans infection" RELATED [GARD:0000004] synonym: "Acanthocheilonemiasis" RELATED [GARD:0000004] synonym: "Dipetalonema infection" EXACT [NCIT:C34540] @@ -100819,13 +101082,14 @@ replaced_by: MONDO:0016472 id: MONDO:0005736 name: eastern equine encephalitis def: "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." [Orphanet:83594] -subset: gard_rare {source="GARD:0010821"} +subset: gard_rare {source="GARD:10821"} subset: ordo_disease {source="Orphanet:83594"} synonym: "Eastern equine encephalomyelitis" EXACT [Orphanet:83594] synonym: "EEE" RELATED ABBREVIATION [DOID:10841] synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841] xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"} xref: EFO:0007242 {source="MONDO:equivalentTo"} +xref: GARD:10821 {source="Orphanet:83594"} xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="Orphanet:83594/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.2 {source="DOID:10841"} xref: MedDRA:10014587 {source="Orphanet:83594", source="Orphanet:83594/e"} @@ -100843,6 +101107,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10821/easter id: MONDO:0005737 name: Ebola hemorrhagic fever def: "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." [NCIT:P378] +subset: gard_rare {source="GARD:2035"} subset: ordo_disease {source="Orphanet:319218"} synonym: "Ebola" EXACT [NCIT:C36171] synonym: "Ebola fever" EXACT [Orphanet:319218] @@ -100853,6 +101118,7 @@ synonym: "Ebolavirus infectious disease" EXACT [] synonym: "EHF" EXACT ABBREVIATION [Orphanet:319218] xref: DOID:4325 {source="MONDO:equivalentTo", source="EFO:0007243"} xref: EFO:0007243 {source="MONDO:equivalentTo"} +xref: GARD:2035 {source="Orphanet:319218"} xref: ICD10CM:A98.4 {source="Orphanet:319218", source="DOID:4325", source="Orphanet:319218/e"} xref: MedDRA:10014071 {source="Orphanet:319218", source="Orphanet:319218/e"} xref: MESH:D019142 {source="DOID:4325", source="MONDO:equivalentTo", source="EFO:0007243"} @@ -101007,6 +101273,7 @@ relationship: disease_has_infectious_agent NCBITaxon:6035 ! Encephalitozoon cuni id: MONDO:0005744 name: yolk sac tumor def: "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." [NCIT:P378] +subset: gard_rare {source="GARD:348"} subset: ordo_disease {source="Orphanet:876"} synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011] synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876] @@ -101023,6 +101290,7 @@ synonym: "yolk Sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 [] xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"} xref: EFO:0007252 {source="MONDO:equivalentTo"} +xref: GARD:348 {source="Orphanet:876"} xref: ICD10CM:C56 {source="Orphanet:876", source="Orphanet:876/btnt"} xref: ICD10CM:C62.9 {source="Orphanet:876", source="Orphanet:876/btnt"} xref: ICDO:9071/3 {source="NCIT:C3011"} @@ -101342,6 +101610,7 @@ replaced_by: MONDO:0021045 id: MONDO:0005761 name: filarial elephantiasis def: "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." [MESH:D004605] +subset: gard_rare {source="GARD:3321"} subset: ordo_disease {source="Orphanet:2035"} synonym: "Bancroftian elephantiasis" EXACT [DOID:12211] synonym: "Bancroftian filarial chyluria" EXACT [DOID:12211] @@ -101355,6 +101624,7 @@ synonym: "Wuchereria Bancrofti infection" RELATED [GARD:0003321] synonym: "Wuchereriasis" RELATED [GARD:0003321] xref: DOID:12211 {source="MONDO:equivalentTo", source="EFO:0007272"} xref: EFO:0007272 {source="MONDO:equivalentTo"} +xref: GARD:3321 {source="Orphanet:2035"} xref: ICD10CM:B74.0 {source="Orphanet:2035/btnt", source="Orphanet:2035", source="DOID:12211"} xref: ICD10CM:B74.1 {source="Orphanet:2035/btnt", source="Orphanet:2035"} xref: ICD10CM:B74.2 {source="Orphanet:2035/btnt", source="Orphanet:2035"} @@ -101412,6 +101682,7 @@ intersection_of: MONDO:0100332 NCBITaxon:11050 ! disease has primary infectious id: MONDO:0005764 name: follicular dendritic cell sarcoma def: "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." [NCIT:C9281] +subset: gard_rare {source="GARD:19081"} subset: ordo_disease {source="Orphanet:86902"} synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281] synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location] @@ -101421,6 +101692,7 @@ synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 [] synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo"} +xref: GARD:19081 {source="Orphanet:86902"} xref: ICD10CM:C96.4 {source="Orphanet:86902", source="DOID:6262", source="Orphanet:86902/ntbt"} xref: ICDO:9758/1 {source="NCIT:C9281"} xref: ICDO:9758/3 {source="NCIT:C9281"} @@ -101535,6 +101807,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005769 name: geniculate herpes zoster def: "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." [NCIT:C84763] +subset: gard_rare {source="GARD:7525"} subset: ordo_disease {source="Orphanet:3020"} synonym: "facial nerve palsy due to herpes zoster infection" EXACT [MONDO:0017606] synonym: "facial nerve palsy due to VZV" EXACT [Orphanet:3020] @@ -101553,6 +101826,7 @@ synonym: "Ramsay Hunt syndrome type II" RELATED [DOID:9210] synonym: "Ramsey Hunt syndrome" EXACT [DOID:9210] xref: DOID:9210 {source="EFO:0007281", source="MONDO:equivalentTo"} xref: EFO:0007281 {source="MONDO:equivalentTo"} +xref: GARD:7525 {source="Orphanet:3020"} xref: ICD10CM:B02.21 {source="DOID:9210"} xref: ICD10EXP:B02.2+ {source="Orphanet:3020/ntbt", source="Orphanet:3020"} xref: ICD10EXP:G53.0* {source="Orphanet:3020/ntbt", source="Orphanet:3020"} @@ -101655,7 +101929,7 @@ relationship: excluded_subClassOf MONDO:0005046 {source="EFO:0007284"} ! immune id: MONDO:0005773 name: Gerstmann syndrome def: "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." [Orphanet:221117] -subset: gard_rare {source="GARD:0008660"} +subset: gard_rare {source="GARD:8660"} subset: ordo_disease {source="Orphanet:221117"} synonym: "aphasia-angular gyrus syndrome" EXACT [DOID:4969] synonym: "developmental Gerstmann syndrome" RELATED [GARD:0008660] @@ -101664,6 +101938,7 @@ synonym: "Gerstmann tetrad" RELATED [GARD:0008660] synonym: "GS" RELATED ABBREVIATION [GARD:0008660] xref: DOID:4969 {source="MONDO:equivalentTo", source="EFO:0007285"} xref: EFO:0007285 {source="MONDO:equivalentTo"} +xref: GARD:8660 {source="Orphanet:221117"} xref: ICD10CM:F81.2 {source="Orphanet:221117", source="Orphanet:221117/ntbt"} xref: ICD9:784.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048608 {source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"} @@ -101679,7 +101954,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8660/gerstma id: MONDO:0005774 name: glanders def: "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." [NCIT:P378] -subset: gard_rare {source="GARD:0009536"} synonym: "Burkholderia mallei" RELATED [GARD:0009536] synonym: "Burkholderia mallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Burkholderia mallei disease or disorder" EXACT [] @@ -101753,7 +102027,6 @@ is_a: MONDO:0005135 {source="DOID:11379/inferred", source="EFO:0007289", source= id: MONDO:0005777 name: granuloma inguinale def: "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." [NCIT:P378] -subset: gard_rare {source="GARD:0009532"} synonym: "donovanosis" EXACT [DOID:9113] synonym: "granuloma inguinale" EXACT [DOID:9113, NCIT:C3065] synonym: "pudendal ulcer" EXACT [DOID:9113] @@ -101940,7 +102213,6 @@ relationship: disease_has_feature HP:0001824 ! Weight loss id: MONDO:0005788 name: hepatitis E virus infection def: "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." [MESH:D016751] -subset: gard_rare {source="GARD:0009541"} synonym: "Hepatitis E virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis E virus hepatitis" EXACT [] synonym: "hepatitis type E" EXACT [DOID:4411, EFO:0007303, MONDORULE:1] @@ -101960,6 +102232,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9541/hepatit id: MONDO:0005789 name: hepatitis D virus infection def: "Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D003699] +subset: gard_rare {source="GARD:21716"} subset: ordo_disease {source="Orphanet:402823"} synonym: "delta hepatitis" EXACT [DOID:2047] synonym: "HDV" EXACT ABBREVIATION [Orphanet:402823] @@ -101970,6 +102243,7 @@ synonym: "Hepatitis delta virus hepatitis" EXACT [] synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1] xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"} xref: EFO:0007304 {source="MONDO:equivalentTo"} +xref: GARD:21716 {source="Orphanet:402823"} xref: ICD10CM:B17.0 {source="Orphanet:402823", source="Orphanet:402823/e"} xref: ICD9:070.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003699 {source="EFO:0007304", source="DOID:2047", source="MONDO:equivalentTo"} @@ -102109,8 +102383,10 @@ relationship: excluded_subClassOf MONDO:0005109 {source="EFO:0007311", source="M id: MONDO:0005797 name: HIV wasting syndrome def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247] +subset: gard_rare {source="GARD:19122"} xref: DOID:1313 {source="EFO:0007312", source="MONDO:obsolete"} xref: EFO:0007312 {source="MONDO:equivalentTo"} +xref: GARD:19122 {source="Orphanet:90081"} xref: MESH:D019247 {source="EFO:0007312", source="MONDO:equivalentTo"} xref: Orphanet:90081 {source="MONDO:equivalentTo"} xref: UMLS:C0343755 {source="MONDO:equivalentTo"} @@ -102186,7 +102462,6 @@ relationship: disease_has_infectious_agent NCBITaxon:1280 {source="MONDO:Wikidat id: MONDO:0005801 name: human T-lymphotropic virus 1 infectious disease def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [EFO:0007316] -subset: gard_rare synonym: "HTLV-1" RELATED [GARD:0009645] synonym: "Human T lymphotropic virus type 1" RELATED [GARD:0009645] synonym: "Human T-lymphotropic virus 1 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -102205,7 +102480,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:11908 ! Human T-cell leu id: MONDO:0005802 name: hymenolepiasis def: "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." [NCIT:C84768] -subset: gard_rare {source="GARD:0002787"} +subset: gard_rare {source="GARD:2787"} subset: ordo_disease {source="Orphanet:401"} synonym: "dwarf tapeworm infection" EXACT [DOID:10074] synonym: "hymenolepiasis" EXACT [NCIT:C84768] @@ -102213,6 +102488,7 @@ synonym: "Hymenolepis infectious disease" EXACT [DOID:10074] synonym: "Hymenolepsis infection" RELATED [GARD:0002787] xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"} xref: EFO:0007317 {source="MONDO:equivalentTo"} +xref: GARD:2787 {source="Orphanet:401"} xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: ICD9:123.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10074"} xref: MedDRA:10020546 {source="Orphanet:401", source="Orphanet:401/e"} @@ -102238,6 +102514,7 @@ id: MONDO:0005803 name: hyperinsulinemic hypoglycemia def: "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." [MESH:D046768] subset: disease_grouping +subset: gard_rare {source="GARD:21849"} subset: ordo_group_of_disorders {source="Orphanet:443095"} synonym: "hyperinsulinemia hypoglycemia" EXACT [OMIMPS:256450] synonym: "hyperinsulinemic hypoglycemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -102246,6 +102523,7 @@ synonym: "nesidioblastosis" RELATED [DOID:13317] synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [DOID:13317] xref: DOID:13317 {source="MONDO:equivalentTo", source="EFO:0007318"} xref: EFO:0007318 {source="MONDO:equivalentTo"} +xref: GARD:21849 {source="Orphanet:443095"} xref: HP:0000825 {source="MONDO:otherHierarchy"} xref: ICD10CM:E16.9 {source="DOID:13317"} xref: MESH:D046768 {source="DOID:13317", source="EFO:0007318"} @@ -102379,7 +102657,6 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0005808 name: inclusion conjunctivitis def: "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." [NCIT:C116817] -subset: gard_rare {source="GARD:0006777"} synonym: "adult inclusion conjunctivitis" EXACT [DOID:13800] synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800] synonym: "inclusion blennorrhoea" EXACT [DOID:13800] @@ -102579,6 +102856,7 @@ name: pancreatic neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." [NCIT:C27031] comment: Editor note: classified as carcinoma in EFO subset: disease_grouping +subset: gard_rare {source="GARD:22052"} subset: ordo_group_of_disorders synonym: "endocrine pancreas cancer" NARROW [DOID:1799] synonym: "endocrine pancreas neoplasm" EXACT [] @@ -102606,6 +102884,7 @@ synonym: "tumor of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endocrine pancreas" EXACT OMO:0003005 [] xref: DOID:1799 {source="MONDO:equivalentTo", source="EFO:0007331"} xref: EFO:0007331 {source="MONDO:equivalentTo"} +xref: GARD:22052 {source="Orphanet:506052"} xref: ICD10CM:C25.4 {source="DOID:1799"} xref: ICD10CM:D13.7 {source="DOID:1799"} xref: ICDO:8150/1 {source="NCIT:C27031"} @@ -102641,7 +102920,7 @@ id: MONDO:0005817 name: Kluver-Bucy syndrome alt_id: MONDO:0015527 def: "Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." [https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome] -subset: gard_rare {source="GARD:0006840"} +subset: gard_rare {source="GARD:6840"} subset: ordo_clinical_syndrome {source="Orphanet:157823"} synonym: "bilateral temporal lobe disorder" RELATED [GARD:0006840] synonym: "KLuever-Bucy syndrome" RELATED [] @@ -102656,6 +102935,7 @@ synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232] synonym: "temporal lobectomy behaviour syndrome" RELATED OMO:0003005 [] xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"} xref: EFO:0007335 {source="MONDO:equivalentTo"} +xref: GARD:6840 {source="Orphanet:157823"} xref: MedDRA:10066431 {source="Orphanet:157823", source="Orphanet:157823/e"} xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="Orphanet:157823", source="Orphanet:157823/e"} xref: NCIT:C84802 {source="DOID:2510", source="MONDO:equivalentTo"} @@ -102704,11 +102984,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005820 name: Lassa fever def: "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." [NCIT:C128418] +subset: gard_rare {source="GARD:19688"} subset: ordo_disease {source="Orphanet:99824"} synonym: "Lassa hemorrhagic fever" EXACT [Orphanet:99824] synonym: "LF" EXACT ABBREVIATION [Orphanet:99824] xref: DOID:9537 {source="EFO:0007338", source="MONDO:equivalentTo"} xref: EFO:0007338 {source="MONDO:equivalentTo"} +xref: GARD:19688 {source="Orphanet:99824"} xref: ICD10CM:A96.2 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023927 {source="Orphanet:99824", source="Orphanet:99824/e"} @@ -102772,11 +103054,14 @@ is_a: MONDO:0005976 {source="DOID:9531", source="EFO:0007340", source="MESH:D013 id: MONDO:0005823 name: legionellosis def: "Any disease caused by Legionella bacteria." [NCIT:C128334] +subset: gard_rare {source="GARD:22419", source="GARD:6876"} subset: ordo_disease {source="Orphanet:549"} synonym: "Legionella infection" EXACT [DOID:10458] synonym: "Legionnaires disease" EXACT [Orphanet:549] xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"} xref: EFO:0007342 {source="MONDO:equivalentTo"} +xref: GARD:22419 {source="Orphanet:600832"} +xref: GARD:6876 {source="Orphanet:549"} xref: ICD10CM:A48.1 {source="Orphanet:549", source="Orphanet:549/e"} xref: MedDRA:10035718 {source="Orphanet:549", source="Orphanet:549/e"} xref: MedDRA:10061266 {source="Orphanet:549", source="Orphanet:549/e"} @@ -102826,7 +103111,7 @@ relationship: disease_has_infectious_agent NCBITaxon:446 {source="MONDO:Wikidata id: MONDO:0005825 name: leptospirosis def: "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." [NCIT:P378] -subset: gard_rare {source="GARD:0007881"} +subset: gard_rare {source="GARD:7881"} subset: ordo_disease {source="Orphanet:509"} synonym: "cane cutter's fever" RELATED [] synonym: "cane-cutter fever" RELATED [GARD:0007881] @@ -102857,6 +103142,7 @@ synonym: "Weil disease" RELATED [GARD:0007881] synonym: "Weil's disease" RELATED EXCLUDE [DOID:2297] xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"} xref: EFO:0007344 {source="MONDO:equivalentTo"} +xref: GARD:7881 {source="Orphanet:509"} xref: ICD10CM:A27 {source="DOID:2297", source="MONDO:equivalentTo"} xref: ICD10CM:A27.0 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"} xref: ICD10CM:A27.8 {source="Orphanet:509/btnt", source="Orphanet:509"} @@ -102935,6 +103221,7 @@ is_a: MONDO:0005148 {source="DOID:11712", source="EFO:0007346", source="MESH:D00 id: MONDO:0005828 name: listeriosis def: "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." [NCIT:P378] +subset: gard_rare {source="GARD:6915"} subset: ordo_disease {source="Orphanet:533"} synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573] synonym: "Listeria infection" EXACT [DOID:11573] @@ -102944,6 +103231,7 @@ synonym: "Listeria monocytogenes infection" RELATED [GARD:0006915] synonym: "Listeria monocytogenes infectious disease" EXACT [] xref: DOID:11573 {source="EFO:0007347", source="MONDO:equivalentTo"} xref: EFO:0007347 {source="MONDO:equivalentTo"} +xref: GARD:6915 {source="Orphanet:533"} xref: ICD10CM:A32 {source="MONDO:equivalentTo", source="DOID:11573"} xref: ICD10CM:A32.0 {source="Orphanet:533", source="Orphanet:533/btnt"} xref: ICD10CM:A32.1 {source="Orphanet:533", source="Orphanet:533/btnt"} @@ -103090,7 +103378,6 @@ intersection_of: disease_has_location UBERON:0006558 ! lymphatic part of lymphoi id: MONDO:0005834 name: lymphogranuloma venereum def: "Infection with the organism Mycobacterium." [NCIT:P378] -subset: gard_rare {source="GARD:0009545"} synonym: "climatic or tropical bubo" EXACT [DOID:13819] synonym: "Durand-Nicolas-Favre disease" EXACT [DOID:13819] synonym: "LGV" RELATED ABBREVIATION [GARD:0009545] @@ -103125,6 +103412,7 @@ name: Lynch syndrome def: "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." [NCIT:P378] comment: Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. subset: clingen +subset: gard_rare {source="GARD:9905"} subset: ordo_disease {source="Orphanet:144"} synonym: "coca 1" RELATED EXCLUDE [DOID:3883] synonym: "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] @@ -103139,6 +103427,7 @@ synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883] synonym: "Lynch syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"} xref: EFO:0007354 {source="MONDO:equivalentTo"} +xref: GARD:9905 {source="Orphanet:144"} xref: ICD10CM:D48.9 {source="Orphanet:144/attributed", source="Orphanet:144/ntbt", source="Orphanet:144"} xref: MedDRA:10051981 {source="Orphanet:144/e", source="Orphanet:144"} xref: MESH:D003123 {source="DOID:3883", source="Orphanet:144/e", source="Orphanet:144", source="EFO:0007354"} @@ -103245,12 +103534,13 @@ intersection_of: disease_has_location UBERON:0001684 ! mandible id: MONDO:0005838 name: mansonelliasis def: "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." [NCIT:P378] -subset: gard_rare {source="GARD:0008216"} +subset: gard_rare {source="GARD:8216"} subset: ordo_disease {source="Orphanet:2459"} synonym: "Mansonella perstans infections" RELATED [GARD:0008216] synonym: "Mansonellosis" EXACT [Orphanet:2459] xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"} xref: EFO:0007357 {source="MONDO:equivalentTo"} +xref: GARD:8216 {source="Orphanet:2459"} xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="Orphanet:2459/e"} xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081"} xref: NCIT:C84882 {source="MONDO:equivalentTo", source="DOID:1081"} @@ -103401,7 +103691,7 @@ intersection_of: disease_has_inflammation_site UBERON:0010743 ! meningeal cluste id: MONDO:0005846 name: microsporidiosis def: "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." [NCIT:P378] -subset: gard_rare {source="GARD:0003655"} +subset: gard_rare {source="GARD:3655"} subset: ordo_disease {source="Orphanet:2552"} synonym: "infection by Microspora" EXACT [DOID:4271] synonym: "infection by Microsporea" EXACT [DOID:4271] @@ -103413,6 +103703,7 @@ synonym: "Microsporidia infectious disease" EXACT [] synonym: "Microsporidiasis" RELATED [GARD:0003655] xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"} xref: EFO:0007366 {source="MONDO:equivalentTo"} +xref: GARD:3655 {source="Orphanet:2552"} xref: ICD10CM:B60.8 {source="Orphanet:2552/ntbt", source="Orphanet:2552", source="DOID:4271"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053982 {source="Orphanet:2552", source="Orphanet:2552/e"} @@ -103516,6 +103807,7 @@ relationship: disease_has_infectious_agent NCBITaxon:129726 ! Pseudocowpox virus id: MONDO:0005851 name: Miller Fisher syndrome def: "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." [NCIT:P378] +subset: gard_rare {source="GARD:3668"} subset: ordo_disease {source="Orphanet:98919"} synonym: "cranial variant of GBS" EXACT [Orphanet:98919] synonym: "cranial variant of Guillain-Barre syndrome" EXACT [Orphanet:98919] @@ -103533,6 +103825,7 @@ synonym: "syndrome, Miller Fisher" EXACT [MESH:D019846] synonym: "syndrome, Miller-Fisher" EXACT [MESH:D019846] xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"} xref: EFO:0007371 {source="MONDO:equivalentTo"} +xref: GARD:3668 {source="Orphanet:98919"} xref: ICD10CM:G61.0 {source="DOID:12889", source="Orphanet:98919/ntbt", source="Orphanet:98919"} xref: MedDRA:10049567 {source="Orphanet:98919/e", source="Orphanet:98919"} xref: MESH:D019846 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="EFO:0007371", source="Orphanet:98919"} @@ -103612,7 +103905,7 @@ intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant id: MONDO:0005854 name: mixed connective tissue disease def: "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." [https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease] -subset: gard_rare {source="GARD:0007051"} +subset: gard_rare {source="GARD:7051"} subset: ordo_disease {source="Orphanet:809"} synonym: "connective tissue disease overlap syndrome" EXACT [DOID:3492] synonym: "MCTD" EXACT ABBREVIATION [Orphanet:809] @@ -103620,6 +103913,7 @@ synonym: "mixed collagen vascular disease" EXACT [DOID:3492] synonym: "sharp syndrome" EXACT [Orphanet:809] xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"} xref: EFO:0007374 {source="MONDO:equivalentTo"} +xref: GARD:7051 {source="Orphanet:809"} xref: ICD10CM:M35.1 {source="Orphanet:809/e", source="DOID:3492", source="Orphanet:809"} xref: MedDRA:10027754 {source="Orphanet:809/e", source="Orphanet:809"} xref: MESH:D008947 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"} @@ -103823,7 +104117,6 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare id: MONDO:0005866 name: mycobacterium avium complex disease def: "An infection that is caused by Mycobacterium avium." [NCIT:P378] -subset: gard_rare synonym: "disseminated infection with mycobacterium avium complex" RELATED [GARD:0009236] synonym: "DMAC" RELATED ABBREVIATION [GARD:0009236] synonym: "infection due to Mycobacterium intracellulare" EXACT [DOID:2755] @@ -104069,7 +104362,6 @@ intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type ey id: MONDO:0005879 name: ocular toxoplasmosis def: "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." [https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis] -subset: gard_rare {source="GARD:0007238"} xref: DOID:13343 {source="MONDO:obsolete", source="EFO:0007399"} xref: EFO:0007399 {source="MONDO:equivalentTo"} xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -104155,7 +104447,6 @@ relationship: disease_has_location UBERON:0000348 ! ophthalmic nerve id: MONDO:0005884 name: opisthorchiasis def: "Infection with flukes of the genus Opisthorchis." [MESH:D009889] -subset: gard_rare {source="GARD:0009746"} synonym: "infection by Opisthorchis" EXACT [DOID:13768] synonym: "infection due to cat liver fluke" RELATED [GARD:0009746] synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:0009746] @@ -104174,7 +104465,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9746/opistho id: MONDO:0005885 name: optic neuritis def: "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." [https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis] -subset: gard_rare {source="GARD:0007320"} xref: DOID:1210 {source="EFO:0007405", source="MONDO:equivalentTo"} xref: EFO:0007405 {source="MONDO:equivalentTo"} xref: ICD10CM:H46 {source="DOID:1210", source="MONDO:equivalentTo"} @@ -104325,6 +104615,7 @@ is_a: MONDO:0021206 ! chronic non-suppurative otitis media id: MONDO:0005893 name: pancreatic endocrine carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." [NCIT:C3770] +subset: gard_rare {source="GARD:22056"} subset: ordo_disease synonym: "carcinoma of endocrine pancreas" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, islet cell, malignant" EXACT [NCIT:C3770] @@ -104353,6 +104644,7 @@ synonym: "poorly-differentiated pancreatic NEN" EXACT [Orphanet:506098] synonym: "poorly-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506098] xref: DOID:1798 {source="EFO:0007416", source="MONDO:equivalentTo"} xref: EFO:0007416 {source="MONDO:equivalentTo"} +xref: GARD:22056 {source="Orphanet:506098"} xref: ICD10CM:C25.4 {source="MONDO:equivalentTo", source="DOID:1798"} xref: ICD9:157.4 {source="DOID:1798"} xref: ICDO:8150/3 {source="NCIT:C3770"} @@ -104374,7 +104666,7 @@ intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas id: MONDO:0005894 name: paracoccidioidomycosis def: "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." [NCIT:P378] -subset: gard_rare {source="GARD:0007323"} +subset: gard_rare {source="GARD:7323"} subset: ordo_disease {source="Orphanet:73260"} synonym: "lobo disease" RELATED [GARD:0007323] synonym: "Lutz-Splendore-Almeida disease" RELATED [GARD:0007323] @@ -104385,6 +104677,7 @@ synonym: "PCM" RELATED ABBREVIATION [GARD:0007323] synonym: "South American blastomycosis" RELATED [GARD:0007323] xref: DOID:12662 {source="MONDO:equivalentTo", source="EFO:0007417"} xref: EFO:0007417 {source="MONDO:equivalentTo"} +xref: GARD:7323 {source="Orphanet:73260"} xref: ICD10CM:B41 {source="MONDO:equivalentTo", source="DOID:12662"} xref: ICD10CM:B41.0 {source="Orphanet:73260/btnt", source="Orphanet:73260"} xref: ICD10CM:B41.7 {source="Orphanet:73260/btnt", source="Orphanet:73260"} @@ -104410,7 +104703,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7323/paracoc id: MONDO:0005895 name: paragonimiasis def: "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." [NCIT:P378] -subset: gard_rare {source="GARD:0009815"} synonym: "infection by Paragonimus" EXACT [DOID:10699] synonym: "lung fluke disease" EXACT [DOID:10699] synonym: "lung fluke infection" EXACT [DOID:10699] @@ -104915,11 +105207,13 @@ is_a: MONDO:0005917 {source="DOID:11060", source="EFO:0007442", source="MESH:D01 id: MONDO:0005919 name: placental insufficiency def: "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." [MESH:D010927] +subset: gard_rare {source="GARD:21823"} subset: ordo_clinical_syndrome {source="Orphanet:439167"} synonym: "insufficiency, placental" RELATED [MESH:D010927] synonym: "uteroplacental vascular insufficiency" EXACT [Orphanet:439167] xref: DOID:3891 {source="MONDO:equivalentTo", source="EFO:0007443"} xref: EFO:0007443 {source="MONDO:equivalentTo"} +xref: GARD:21823 {source="Orphanet:439167"} xref: ICD10CM:O36.5 {source="Orphanet:439167/ntbt", source="Orphanet:439167"} xref: ICD9:762.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010927 {source="DOID:3891", source="MONDO:equivalentTo", source="EFO:0007443"} @@ -105151,6 +105445,7 @@ is_a: MONDO:0005108 {source="EFO:0007457", source="MESH:D011557/inferred"} ! vir id: MONDO:0005933 name: pulmonary blastoma def: "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." [NCIT:C3732] +subset: gard_rare {source="GARD:18864"} subset: ordo_disease {source="Orphanet:64741"} synonym: "blastoma of lung" EXACT [DOID:4765, NCIT:C3732] synonym: "blastoma of the lung" EXACT [NCIT:C3732] @@ -105159,6 +105454,7 @@ synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741] synonym: "pulmonary blastoma" EXACT [NCIT:C3732] xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"} xref: EFO:0007458 {source="MONDO:equivalentTo"} +xref: GARD:18864 {source="Orphanet:64741"} xref: ICD10CM:C34.1 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD10CM:C34.2 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD10CM:C34.3 {source="Orphanet:64741/nd", source="Orphanet:64741"} @@ -105323,10 +105619,12 @@ intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space id: MONDO:0005942 name: Reye syndrome def: "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." [NCIT:C34983] +subset: gard_rare {source="GARD:7570"} subset: ordo_disease {source="Orphanet:3096"} synonym: "Reye's syndrome" EXACT [DOID:14525] xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"} xref: EFO:0007467 {source="MONDO:equivalentTo"} +xref: GARD:7570 {source="Orphanet:3096"} xref: ICD10CM:G93.7 {source="DOID:14525", source="Orphanet:3096/ntbt", source="Orphanet:3096"} xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039012 {source="Orphanet:3096/e", source="Orphanet:3096"} @@ -105599,7 +105897,6 @@ relationship: realized_in_response_to_stimulus ENVO:00000073 ! building id: MONDO:0005960 name: silicosis def: "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." [https://rarediseases.info.nih.gov/diseases/7647/silicosis] -subset: gard_rare {source="GARD:0007647"} synonym: "accelerated silicosis" RELATED [GARD:0007647] synonym: "acute silicosis" RELATED [GARD:0007647] synonym: "chronic silicosis" RELATED [GARD:0007647] @@ -105809,11 +106106,12 @@ intersection_of: disease_has_location UBERON:0002106 ! spleen id: MONDO:0005968 name: sporotrichosis def: "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." [MESH:D013174] -subset: gard_rare {source="GARD:0007692"} +subset: gard_rare {source="GARD:7692"} subset: ordo_disease {source="Orphanet:826"} synonym: "rose gardener's disease" RELATED [GARD:0007692] xref: DOID:14484 {source="MONDO:equivalentTo", source="EFO:0007494"} xref: EFO:0007494 {source="MONDO:equivalentTo"} +xref: GARD:7692 {source="Orphanet:826"} xref: ICD10CM:B42 {source="MONDO:equivalentTo", source="DOID:14484"} xref: ICD10CM:B42.0 {source="Orphanet:826", source="Orphanet:826/btnt"} xref: ICD10CM:B42.1 {source="Orphanet:826", source="Orphanet:826/btnt"} @@ -105841,6 +106139,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7692/sporotr id: MONDO:0005969 name: st. Louis encephalitis def: "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" [MESH:D004674] +subset: gard_rare {source="GARD:19041"} subset: ordo_disease {source="Orphanet:83484"} synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845] synonym: "Saint Louis encephalitis" EXACT [Orphanet:83484] @@ -105848,6 +106147,7 @@ synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MO synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT [] xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"} xref: EFO:0007495 {source="MONDO:equivalentTo"} +xref: GARD:19041 {source="Orphanet:83484"} xref: ICD10CM:A83.3 {source="Orphanet:83484", source="DOID:10845", source="Orphanet:83484/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.3 {source="DOID:10845", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041896 {source="Orphanet:83484", source="Orphanet:83484/e"} @@ -105946,6 +106246,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:6308 ! Strongylida id: MONDO:0005974 name: strongyloidiasis def: "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." [NCIT:C128398] +subset: gard_rare {source="GARD:8195"} subset: ordo_disease {source="Orphanet:76"} synonym: "Anguilluliasis" EXACT [Orphanet:76] synonym: "Anguillulosis" EXACT [Orphanet:76] @@ -105953,6 +106254,7 @@ synonym: "disseminated strongyloidiasis" EXACT [DOID:10955] synonym: "infection by Strongyloides" EXACT [DOID:10955] xref: DOID:10955 {source="EFO:0007501", source="MONDO:equivalentTo"} xref: EFO:0007501 {source="MONDO:equivalentTo"} +xref: GARD:8195 {source="Orphanet:76"} xref: ICD10CM:B78 {source="DOID:10955"} xref: ICD10CM:B78.0 {source="Orphanet:76", source="Orphanet:76/btnt"} xref: ICD10CM:B78.1 {source="Orphanet:76", source="Orphanet:76/btnt"} @@ -106080,12 +106382,14 @@ relationship: disease_has_infectious_agent NCBITaxon:5873 {source="MONDO:Wikidat id: MONDO:0005979 name: thoracic outlet syndrome def: "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." [NCIT:P378] +subset: gard_rare {source="GARD:7759"} subset: ordo_disease {source="Orphanet:97330"} synonym: "thoracic outlet compression syndrome" EXACT [Orphanet:97330] synonym: "TOS" EXACT ABBREVIATION [Orphanet:97330] synonym: "TOS - thoracic outlet syndrome" EXACT [DOID:3103] xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"} xref: EFO:0007507 {source="MONDO:equivalentTo"} +xref: GARD:7759 {source="Orphanet:97330"} xref: ICD10CM:G54.0 {source="DOID:3103", source="Orphanet:97330/ntbt", source="Orphanet:97330"} xref: MedDRA:10048627 {source="Orphanet:97330/e", source="Orphanet:97330"} xref: MESH:D013901 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="EFO:0007507", source="Orphanet:97330"} @@ -106122,7 +106426,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:297308 ! Ixodoidea id: MONDO:0005981 name: tick paralysis def: "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." [MESH:D013985] -subset: gard_rare {source="GARD:0007771"} xref: DOID:11285 {source="MONDO:equivalentTo", source="EFO:0007509"} xref: EFO:0007509 {source="MONDO:equivalentTo"} xref: MESH:D013985 {source="MONDO:equivalentTo", source="DOID:11285", source="EFO:0007509"} @@ -106245,6 +106548,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:59263 ! Toxascaris id: MONDO:0005988 name: toxocariasis def: "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." [NCIT:P378] +subset: gard_rare {source="GARD:18793"} subset: ordo_disease {source="Orphanet:3343"} synonym: "infection by Toxascaris" EXACT [DOID:9790] synonym: "Toxocara caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -106254,6 +106558,7 @@ synonym: "Toxocara infectious disease" EXACT [] synonym: "visceral larva migrans" EXACT [DOID:9790] xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"} xref: EFO:0007516 {source="MONDO:equivalentTo"} +xref: GARD:18793 {source="Orphanet:3343"} xref: ICD10CM:B83.0 {source="Orphanet:3343", source="Orphanet:3343/e", source="DOID:9790"} xref: ICD9:128.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044269 {source="Orphanet:3343", source="Orphanet:3343/e"} @@ -106343,6 +106648,7 @@ relationship: disease_has_inflammation_site UBERON:0000379 ! tracheal mucosa id: MONDO:0005991 name: trench fever def: "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." [MESH:D014205] +subset: gard_rare {source="GARD:18862"} subset: ordo_disease {source="Orphanet:64694"} synonym: "Bartonella quintana caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonella quintana disease or disorder" EXACT [] @@ -106359,6 +106665,7 @@ synonym: "trench fevers" RELATED [MESH:D014205] synonym: "Wolhynian fever" EXACT [DOID:11101] xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"} xref: EFO:0007519 {source="MONDO:equivalentTo"} +xref: GARD:18862 {source="Orphanet:64694"} xref: ICD10CM:A79.0 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} xref: ICD9:083.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11101"} xref: MedDRA:10044582 {source="Orphanet:64694/e", source="Orphanet:64694"} @@ -106451,7 +106758,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:6318 ! Trichostrongylus id: MONDO:0005996 name: trichuriasis def: "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." [NCIT:C128399] -subset: gard_rare {source="GARD:0010720"} synonym: "infection by Trichuris trichura" EXACT [DOID:1252] synonym: "trichocephaliasis" RELATED [GARD:0010720] synonym: "trichuriasis infection" EXACT [DOID:1252, ICD9CM:127.3] @@ -106674,7 +106980,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0019229 ! regulation of v id: MONDO:0006005 name: Venezuelan equine encephalitis def: "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." [NCIT:P378] -subset: gard_rare {source="GARD:0006355"} synonym: "Venezuelan equine encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Venezuelan equine encephalitis virus disease or disorder" EXACT [] synonym: "Venezuelan equine encephalitis virus infectious disease" EXACT [] @@ -106779,12 +107084,14 @@ id: MONDO:0006009 name: viral encephalitis def: "Encephalitis resulting from viral infection." [NCIT:C35302] comment: Editor note: we place the Orphanet class here as it is implicitly viral +subset: gard_rare {source="GARD:19433"} synonym: "epidemic encephalitis" RELATED EXCLUDE [DOID:646] synonym: "viral encephalitis" EXACT [NCIT:C35302] synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses encephalitis" EXACT [] xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"} xref: EFO:0007538 {source="MONDO:equivalentTo"} +xref: GARD:19433 {source="Orphanet:98252"} xref: MedDRA:10058805 {source="Orphanet:98252/e", source="Orphanet:98252"} xref: MESH:D004671 {source="DOID:646", source="EFO:0007538"} xref: NCIT:C34576 {source="DOID:646"} @@ -106930,6 +107237,7 @@ relationship: disease_has_feature HP:0010783 ! Erythema id: MONDO:0006015 name: Waterhouse-Friderichsen syndrome def: "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." [NCIT:P378] +subset: gard_rare {source="GARD:9449"} subset: ordo_clinical_subtype {source="Orphanet:100067"} synonym: "fatal pneumococcal Waterhouse-Friderichsen syndrome" RELATED [GARD:0009449] synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931] @@ -106937,6 +107245,7 @@ synonym: "Waterhouse–Friderichsen syndrome" RELATED [GARD:0009449] synonym: "WFS" EXACT ABBREVIATION [DOID:9931] xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"} xref: EFO:0007544 {source="MONDO:equivalentTo"} +xref: GARD:9449 {source="Orphanet:100067"} xref: ICD10CM:A39.1 {source="MONDO:equivalentTo"} xref: ICD10EXP:A39.1+ {source="Orphanet:100067", source="Orphanet:100067/e"} xref: ICD10EXP:E35.1* {source="Orphanet:100067", source="Orphanet:100067/e"} @@ -106989,7 +107298,6 @@ relationship: excluded_subClassOf MONDO:0017767 {source="MESH:D014924"} ! rheuma id: MONDO:0006019 name: yaws def: "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." [NCIT:P378] -subset: gard_rare {source="GARD:0007913"} synonym: "Bouba" EXACT [DOID:10371] synonym: "endemic treponematoses" RELATED [GARD:0007913] synonym: "frambesia" EXACT [DOID:10371] @@ -107248,12 +107556,13 @@ intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder id: MONDO:0006033 name: diffuse intrinsic pontine glioma def: "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." [NCIT:P378] -subset: gard_rare {source="GARD:0013075"} +subset: gard_rare {source="GARD:13075"} subset: ordo_disease synonym: "diffuse midline glioma" RELATED [https://orcid.org/0000-0001-8688-2523, PMID:30800634] synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188] synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075] xref: EFO:1000026 {source="MONDO:equivalentTo"} +xref: GARD:13075 {source="Orphanet:497188"} xref: MESH:D000080443 {source="MONDO:equivalentTo"} xref: NCIT:C94764 {source="MONDO:equivalentTo", source="EFO:1000026"} xref: ONCOTREE:DIPG {source="MONDO:equivalentTo"} @@ -107342,13 +107651,14 @@ intersection_of: disease_has_location CL:0000501 ! granulosa cell id: MONDO:0006037 name: hydrolethalus syndrome def: "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." [Orphanet:2189] -subset: gard_rare {source="GARD:0006683"} +subset: gard_rare {source="GARD:6683"} subset: ordo_malformation_syndrome {source="Orphanet:2189"} synonym: "HLS" RELATED ABBREVIATION [GARD:0006683] synonym: "hydrolethalus" RELATED [Orphanet:2189] synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779] xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"} xref: EFO:1000033 {source="MONDO:equivalentTo"} +xref: GARD:6683 {source="Orphanet:2189"} xref: ICD10CM:Q87.8 {source="Orphanet:2189/attributed", source="Orphanet:2189/ntbt", source="Orphanet:2189", source="EFO:1000033", source="DOID:0050779"} xref: MESH:C536079 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"} xref: OMIMPS:236680 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -107430,12 +107740,14 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0006042 name: meningeal tuberculosis def: "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." [NCIT:P378] +subset: gard_rare {source="GARD:7828"} subset: ordo_disease synonym: "TB meningitis" EXACT [GARD:0007828] synonym: "TBM" EXACT ABBREVIATION [Orphanet:499004] synonym: "tubercular meningitis" EXACT [Orphanet:499004] synonym: "tuberculous meningitis" EXACT [MONDO:0044684] xref: EFO:1000039 {source="MONDO:equivalentTo"} +xref: GARD:7828 {source="Orphanet:499004"} xref: MESH:D014390 {source="MONDO:equivalentTo"} xref: NCIT:C84888 {source="MONDO:equivalentTo", source="EFO:1000039"} xref: Orphanet:499004 {source="MONDO:equivalentTo"} @@ -107456,6 +107768,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0006043 name: metaplastic breast carcinoma def: "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." [NCIT:C5164] +subset: gard_rare {source="GARD:10804"} subset: ordo_disease {source="Orphanet:213531"} synonym: "breast metaplastic carcinoma" RELATED [DOID:4680] synonym: "metaplastic breast cancer" RELATED [GARD:0010804] @@ -107464,6 +107777,7 @@ synonym: "metaplastic carcinoma of breast" EXACT [DOID:4680, NCIT:C5164] synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164] xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"} xref: EFO:1000040 {source="MONDO:equivalentTo"} +xref: GARD:10804 {source="Orphanet:213531"} xref: ICD10CM:C50.0 {source="Orphanet:213531", source="Orphanet:213531/btnt"} xref: ICD10CM:C50.1 {source="Orphanet:213531", source="Orphanet:213531/btnt"} xref: ICD10CM:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} @@ -107484,7 +107798,6 @@ is_a: MONDO:0006256 {source="NCIT:C5164"} ! invasive breast carcinoma id: MONDO:0006044 name: nephrosclerosis def: "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." [MESH:D009400] -subset: gard_rare {source="GARD:0007179"} synonym: "renal sclerosis" EXACT [DOID:11664] xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"} xref: EFO:1000041 {source="MONDO:equivalentTo"} @@ -107506,6 +107819,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7179/nephros id: MONDO:0006045 name: ovarian clear cell adenocarcinoma def: "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." [NCIT:C40078] +subset: gard_rare {source="GARD:21652"} subset: ordo_disease {source="Orphanet:398971"} synonym: "clear cell adenocarcinoma of ovary" EXACT [MONDO:0018367] synonym: "clear cell adenocarcinoma of the ovary" RELATED [Orphanet:398971] @@ -107513,6 +107827,7 @@ synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971 synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"} xref: EFO:1000042 {source="MONDO:equivalentTo"} +xref: GARD:21652 {source="Orphanet:398971"} xref: ICD10CM:C56 {source="Orphanet:398971", source="Orphanet:398971/ntbt"} xref: NCIT:C40078 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo"} xref: Orphanet:398971 {source="MONDO:equivalentTo"} @@ -108151,11 +108466,12 @@ relationship: disease_arises_from_feature MONDO:0012268 ! AIDS id: MONDO:0006079 name: ameloblastic carcinoma def: "A rare, cytologically malignant ameloblastoma that may metastasize." [NCIT:C7492] -subset: gard_rare {source="GARD:0011855"} +subset: gard_rare {source="GARD:11855"} subset: ordo_disease {source="Orphanet:314422"} synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492] synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492] xref: EFO:1000078 {source="MONDO:equivalentTo"} +xref: GARD:11855 {source="Orphanet:314422"} xref: ICD10CM:C41.1 {source="Orphanet:314422", source="Orphanet:314422/ntbt"} xref: NCIT:C7492 {source="EFO:1000078", source="MONDO:equivalentTo"} xref: Orphanet:314422 {source="MONDO:equivalentTo"} @@ -109027,7 +109343,7 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0006131 name: cerebellar liponeurocytoma def: "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" [NCIT:C6905] -subset: gard_rare {source="GARD:0010642"} +subset: gard_rare {source="GARD:10642"} subset: ordo_disease {source="Orphanet:251931"} synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458] synonym: "cerebellar liponeurocytoma (WHO grade II)" EXACT [NCIT:C6905] @@ -109036,6 +109352,7 @@ synonym: "lipomatous medulloblastoma" EXACT [DOID:6458, NCIT:C6905] synonym: "lipomatous medulloblastoma (formerly)" RELATED DEPRECATED [GARD:0010642] xref: DOID:6458 {source="MONDO:equivalentTo"} xref: EFO:1000159 {source="MONDO:equivalentTo"} +xref: GARD:10642 {source="Orphanet:251931"} xref: ICDO:0000/0 {source="NCIT:C6905"} xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="MONDO:exact-label-match"} xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"} @@ -109062,6 +109379,7 @@ is_a: MONDO:0005131 {source="DOID:6428", source="EFO:1000160", source="NCIT:C402 id: MONDO:0006133 name: cervical adenoid cystic carcinoma def: "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." [NCIT:C6346] +subset: gard_rare {source="GARD:20498"} subset: ordo_disease {source="Orphanet:213823"} synonym: "adenoid cystic carcinoma of cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of cervix uteri" EXACT [NCIT:C6346] @@ -109075,6 +109393,7 @@ synonym: "cervix uteri adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6346] xref: DOID:4867 {source="MONDO:equivalentTo"} xref: EFO:1000161 {source="MONDO:equivalentTo"} +xref: GARD:20498 {source="Orphanet:213823"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213823", source="Orphanet:213823/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213823", source="Orphanet:213823/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213823", source="Orphanet:213823/btnt"} @@ -109255,6 +109574,7 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0006143 name: cervical squamous cell carcinoma def: "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." [NCIT:P378] +subset: gard_rare {source="GARD:20487"} subset: ordo_disease {source="Orphanet:213767"} synonym: "cervical squamous cell cancer" EXACT [NCIT:C4028] synonym: "cervical squamous cell carcinoma" EXACT [NCIT:C4028, Orphanet:213767] @@ -109273,6 +109593,7 @@ synonym: "squamous cervical cancer" EXACT [NCIT:C4028] synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028] xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"} xref: EFO:1000172 {source="MONDO:equivalentTo"} +xref: GARD:20487 {source="Orphanet:213767"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213767", source="Orphanet:213767/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213767", source="Orphanet:213767/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213767", source="Orphanet:213767/btnt"} @@ -109885,6 +110206,7 @@ is_a: MONDO:0006181 {source="NCIT:C95406"} ! digestive system carcinoma id: MONDO:0006183 name: disseminated peritoneal leiomyomatosis def: "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." [NCIT:C3958] +subset: gard_rare {source="GARD:12843"} subset: ordo_disease {source="Orphanet:71274"} synonym: "diffuse peritoneal leiomyomatosis" EXACT [MONDO:0003613, NCIT:C3958, Orphanet:71274] synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958] @@ -109894,6 +110216,7 @@ synonym: "leiomyomatosis peritonealis disseminate" EXACT [Orphanet:71274] synonym: "LPD" EXACT ABBREVIATION [Orphanet:71274] xref: DOID:5728 {source="MONDO:equivalentTo"} xref: EFO:1000220 {source="MONDO:equivalentTo"} +xref: GARD:12843 {source="Orphanet:71274"} xref: ICD10CM:D20.1 {source="Orphanet:71274", source="Orphanet:71274/ntbt"} xref: NCIT:C3958 {source="EFO:1000220", source="MONDO:equivalentTo", source="DOID:5728"} xref: Orphanet:71274 {source="MONDO:equivalentTo"} @@ -110005,7 +110328,6 @@ relationship: excluded_subClassOf MONDO:0005062 {source="EFO:1000228"} ! lymphom id: MONDO:0006189 name: eccrine porocarcinoma def: "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." [NCIT:C5560] -subset: gard_rare {source="GARD:0007431"} synonym: "eccrine porocarcinoma" EXACT [NCIT:C5560] synonym: "eccrine porocarcinoma of skin" RELATED [GARD:0007431] synonym: "epidermotropic eccrine carcinoma" EXACT [NCIT:C5560] @@ -110363,6 +110685,7 @@ relationship: disease_has_location CL:0000057 {source="EFO:0000784"} ! fibroblas id: MONDO:0006210 name: fibrolamellar hepatocellular carcinoma def: "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." [NCIT:C4131] +subset: gard_rare {source="GARD:21704"} subset: ordo_disease {source="Orphanet:401920"} synonym: "eosinophilic glassy cell hepatoma" RELATED [GARD:0009396] synonym: "eosinophilic hepatocellular carcinoma with lamellar fibrosis" RELATED [GARD:0009396] @@ -110388,6 +110711,7 @@ synonym: "polygonal cell hepatocellular carcinoma with fibrous stroma" RELATED [ synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXACT [NCIT:C4131] xref: DOID:5015 {source="MONDO:equivalentTo"} xref: EFO:1000256 {source="MONDO:equivalentTo"} +xref: GARD:21704 {source="Orphanet:401920"} xref: ICD10CM:C22.0 {source="Orphanet:401920/ntbt", source="Orphanet:401920"} xref: ICDO:8171/3 {source="NCIT:C4131"} xref: MESH:C537258 {source="DOID:5015", source="MONDO:equivalentTo"} @@ -110761,6 +111085,7 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0006230 name: gastric squamous cell carcinoma def: "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." [NCIT:C5475] +subset: gard_rare {source="GARD:21743"} subset: ordo_disease {source="Orphanet:418959"} synonym: "gastric (stomach) squamous cell cancer" EXACT [NCIT:C5475] synonym: "gastric squamous cell carcinoma" EXACT [NCIT:C5475, Orphanet:418959] @@ -110769,6 +111094,7 @@ synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475] synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5516 {source="MONDO:equivalentTo"} xref: EFO:1000278 {source="MONDO:equivalentTo"} +xref: GARD:21743 {source="Orphanet:418959"} xref: ICD10CM:C16.0 {source="Orphanet:418959", source="Orphanet:418959/nd"} xref: ICD10CM:C16.1 {source="Orphanet:418959", source="Orphanet:418959/nd"} xref: ICD10CM:C16.2 {source="Orphanet:418959", source="Orphanet:418959/nd"} @@ -110864,7 +111190,6 @@ id: MONDO:0006235 name: granular cell tumor def: "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." [NCIT:C3474] comment: Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement -subset: gard_rare {source="GARD:0009618"} synonym: "Abrikosoff's granulous cell tumor" RELATED [GARD:0009618] synonym: "Abrikosoff's granulous cell tumour" RELATED OMO:0003005 [] synonym: "Abrikosoff's tumor" RELATED [GARD:0009618] @@ -110932,6 +111257,7 @@ id: MONDO:0006238 name: growth hormone-producing pituitary gland adenoma def: "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." [NCIT:C7461] subset: disease_grouping +subset: gard_rare {source="GARD:16850"} subset: ordo_group_of_disorders {source="Orphanet:96256"} synonym: "GH cell adenoma" EXACT [NCIT:C7461] synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461] @@ -110955,6 +111281,7 @@ synonym: "somatotropic adenoma" RELATED [Orphanet:96256] xref: DOID:6255 {source="MONDO:equivalentTo"} xref: EFO:0004125 {source="MONDO:equivalentTo"} xref: EFO:1000287 {source="MONDO:equivalentTo"} +xref: GARD:16850 {source="Orphanet:96256"} xref: ICD10CM:D35.2 {source="Orphanet:96256/nd", source="MONDO:relatedTo", source="Orphanet:96256"} xref: ICD10CM:E22.0 {source="Orphanet:96256/nd", source="Orphanet:96256"} xref: MESH:D049912 {source="EFO:0004125", source="DOID:6255"} @@ -111080,6 +111407,7 @@ id: MONDO:0006247 name: histiocytic and dendritic cell neoplasm def: "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" [NCIT:C9294] subset: disease_grouping +subset: gard_rare {source="GARD:19441"} subset: ordo_group_of_disorders {source="Orphanet:98287"} synonym: "histiocytic and dendritic cell" RELATED [DOID:5621] synonym: "histiocytic and dendritic cell cancer" RELATED [DOID:5621] @@ -111091,6 +111419,7 @@ synonym: "histiocytic and dendritic cell tumour" RELATED OMO:0003005 [] synonym: "histiocytic and Dendritic cell tumours" EXACT OMO:0003005 [] xref: DOID:5621 {source="MONDO:equivalentTo"} xref: EFO:1000297 {source="MONDO:equivalentTo"} +xref: GARD:19441 {source="Orphanet:98287"} xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:98287 {source="MONDO:equivalentTo"} xref: UMLS:C1334030 {source="MONDO:equivalentTo", source="NCIT:C9294"} @@ -111103,6 +111432,7 @@ is_a: MONDO:0044881 {source="NCIT:C9294"} ! hematopoietic and lymphoid cell neop id: MONDO:0006248 name: hydatidiform mole def: "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." [NCIT:C3110] +subset: gard_rare {source="GARD:10263"} subset: ordo_disease {source="Orphanet:99927"} synonym: "hydatid mole" EXACT [NCIT:C3110] synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110] @@ -111110,6 +111440,7 @@ synonym: "hydatidiform mole, recurrent" RELATED [OMIMPS:231090] synonym: "HYDM" RELATED ABBREVIATION [GARD:0010263] synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927] xref: EFO:1000298 {source="MONDO:equivalentTo"} +xref: GARD:10263 {source="Orphanet:99927"} xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:O01.0 {source="Orphanet:99927/btnt", source="Orphanet:99927"} xref: ICD10CM:O01.1 {source="Orphanet:99927/btnt", source="Orphanet:99927"} @@ -111303,12 +111634,14 @@ id: MONDO:0006260 name: kidney medullary carcinoma alt_id: MONDO:0017888 def: "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." [NCIT:C7572] +subset: gard_rare {source="GARD:13175"} subset: ordo_disease {source="Orphanet:319319"} synonym: "carcinoma of renal medulla" EXACT [MONDO:patterns/carcinoma] synonym: "kidney medullary carcinoma" EXACT [NCIT:C7572] synonym: "renal medulla carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [NCIT:C7572] xref: EFO:1000314 {source="MONDO:equivalentTo"} +xref: GARD:13175 {source="Orphanet:319319"} xref: ICD10CM:C64 {source="Orphanet:319319/ntbt", source="Orphanet:319319"} xref: MedDRA:10064886 {source="Orphanet:319319", source="Orphanet:319319/e"} xref: NCIT:C7572 {source="MONDO:equivalentTo", source="EFO:1000314"} @@ -111598,6 +111931,7 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0006277 name: lung lymphangioleiomyomatosis def: "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." [NCIT:C38153] +subset: gard_rare {source="GARD:3319"} synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153] synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153] synonym: "lymphangioleiomyomatosis" RELATED [DOID:3319] @@ -111606,6 +111940,7 @@ synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM] xref: DOID:3319 {source="MONDO:equivalentTo"} xref: EFO:1000334 {source="MONDO:equivalentTo"} +xref: GARD:3319 {source="Orphanet:538"} xref: ICD10CM:D48.7 {source="Orphanet:538", source="Orphanet:538/attributed", source="Orphanet:538/ntbt"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049459 {source="Orphanet:538", source="Orphanet:538/e"} @@ -111870,7 +112205,6 @@ is_obsolete: true id: MONDO:0006290 name: malignant germ cell tumor def: "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." [NCIT:C4925] -subset: gard_rare synonym: "cancer of germ cell" EXACT [MONDO:patterns/cancer] synonym: "germ cell cancer" EXACT [MONDO:patterns/location] synonym: "germ cell cancer, NOS" RELATED EXCLUDE [NCIT:C4925] @@ -111922,6 +112256,7 @@ intersection_of: disease_has_location UBERON:0034972 ! jugular body id: MONDO:0006292 name: malignant mesothelioma def: "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." [NCIT:C4456] +subset: gard_rare {source="GARD:7026"} subset: ordo_disease {source="Orphanet:50251"} synonym: "advanced malignant mesothelioma" NARROW [DOID:1790] synonym: "asbestos-related malignant mesothelioma" NARROW [DOID:1790] @@ -111942,6 +112277,7 @@ synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignan synonym: "mesothelioma, somatic" EXACT [OMIM:156240, OMIM:genemap2] xref: DOID:1790 {source="MONDO:equivalentTo"} xref: EFO:1000355 {source="MONDO:equivalentTo"} +xref: GARD:7026 {source="Orphanet:50251"} xref: HP:0100001 {source="MONDO:otherHierarchy"} xref: ICD10CM:C45.0 {source="Orphanet:50251/e", source="Orphanet:50251"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -112586,6 +112922,7 @@ replaced_by: MONDO:0003581 id: MONDO:0006335 name: ovarian endometrioid adenocarcinoma def: "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." [NCIT:C7979] +subset: gard_rare {source="GARD:21893"} subset: ordo_disease {source="Orphanet:454723"} synonym: "endometrioid adenocarcinoma of ovary" EXACT [NCIT:C7979] synonym: "endometrioid adenocarcinoma of the ovary" EXACT [NCIT:C7979] @@ -112605,6 +112942,7 @@ synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979] synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5828 {source="MONDO:equivalentTo"} xref: EFO:1000416 {source="MONDO:equivalentTo"} +xref: GARD:21893 {source="Orphanet:454723"} xref: ICD10CM:C56 {source="Orphanet:454723", source="Orphanet:454723/ntbt"} xref: NCIT:C7979 {source="MONDO:equivalentTo", source="EFO:1000416", source="DOID:5828"} xref: ONCOTREE:EOV {source="MONDO:equivalentTo"} @@ -112662,10 +113000,12 @@ replaced_by: MONDO:0011366 id: MONDO:0006339 name: ovarian microcystic stromal tumor def: "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." [NCIT:C121953] +subset: gard_rare {source="GARD:22304"} synonym: "MCST" EXACT ABBREVIATION [Orphanet:569248] synonym: "microcystic stromal tumor" EXACT [Orphanet:569248] synonym: "microcystic stromal tumour" EXACT OMO:0003005 [] xref: EFO:1000424 {source="MONDO:equivalentTo"} +xref: GARD:22304 {source="Orphanet:569248"} xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="MONDO:exact-label-match"} xref: Orphanet:569248 {source="MONDO:equivalentTo"} xref: UMLS:C4054287 {source="MONDO:equivalentTo", source="NCIT:C121953"} @@ -112800,6 +113140,7 @@ intersection_of: disease_has_location UBERON:0008878 ! palmar part of manus id: MONDO:0006346 name: pancreatic acinar cell carcinoma def: "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." [NCIT:C7977] +subset: gard_rare {source="GARD:21777"} subset: ordo_disease {source="Orphanet:424046"} synonym: "acinar cell adenocarcinoma of pancreas" EXACT [NCIT:C7977] synonym: "acinar cell adenocarcinoma of the pancreas" EXACT [NCIT:C7977] @@ -112813,6 +113154,7 @@ synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977] synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046] xref: DOID:5742 {source="MONDO:equivalentTo"} xref: EFO:1000439 {source="MONDO:equivalentTo"} +xref: GARD:21777 {source="Orphanet:424046"} xref: ICD10CM:C25.0 {source="Orphanet:424046/nd", source="Orphanet:424046"} xref: ICD10CM:C25.1 {source="Orphanet:424046/nd", source="Orphanet:424046"} xref: ICD10CM:C25.2 {source="Orphanet:424046/nd", source="Orphanet:424046"} @@ -113054,6 +113396,7 @@ id: MONDO:0006359 name: neoplasm with perivascular epithelioid cell differentiation def: "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." [NCIT:C38150] comment: MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). {source="EFO:1000464"} +subset: gard_rare {source="GARD:22383"} subset: ordo_disease synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150] synonym: "PEComa" EXACT [DOID:2643, Orphanet:595133] @@ -113063,6 +113406,7 @@ synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT: synonym: "tumour with perivascular epithelioid cell differentiation" EXACT OMO:0003005 [] xref: DOID:2643 {source="MONDO:equivalentTo", source="EFO:1000464"} xref: EFO:1000464 {source="MONDO:equivalentTo"} +xref: GARD:22383 {source="Orphanet:595133"} xref: ICD10CM:D21.9 {source="Orphanet:595133/ntbt", source="Orphanet:595133"} xref: MESH:D054973 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"} xref: NCIT:C38150 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"} @@ -113143,6 +113487,7 @@ property_value: IAO:0000589 "peritoneal mesothelioma (disease)" xsd:string id: MONDO:0006363 name: peritoneal multicystic mesothelioma def: "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." [NCIT:C6536] +subset: gard_rare {source="GARD:10777"} subset: ordo_disease {source="Orphanet:168816"} synonym: "benign cystic peritoneal mesothelioma" RELATED [GARD:0010777] synonym: "benign multicystic peritoneal mesothelioma" NARROW [Orphanet:168816] @@ -113156,6 +113501,7 @@ synonym: "multilocular peritoneal inclusion cysts" RELATED [GARD:0010777] synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816] synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536] xref: EFO:1000468 {source="MONDO:equivalentTo"} +xref: GARD:10777 {source="Orphanet:168816"} xref: ICD10CM:C45.1 {source="Orphanet:168816/ntbt", source="Orphanet:168816"} xref: NCIT:C6536 {source="MONDO:equivalentTo", source="EFO:1000468"} xref: Orphanet:168816 {source="MONDO:equivalentTo"} @@ -113235,6 +113581,7 @@ id: MONDO:0006369 name: pineal parenchymal tumor of intermediate differentiation def: "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" [NCIT:C6967] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163). +subset: gard_rare {source="GARD:10644"} subset: ordo_disease {source="Orphanet:251919"} synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967] synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030] @@ -113244,6 +113591,7 @@ synonym: "pineal parenchymal tumours of intermediate differentiation" RELATED OM synonym: "PPTID" RELATED ABBREVIATION [GARD:0010644, ONCOTREE:PPTID] xref: DOID:5030 {source="MONDO:equivalentTo"} xref: EFO:1000474 {source="MONDO:equivalentTo"} +xref: GARD:10644 {source="Orphanet:251919"} xref: ICD10CM:D44.5 {source="Orphanet:251919/ntbt", source="Orphanet:251919"} xref: NCIT:C6967 {source="EFO:1000474", source="MONDO:equivalentTo", source="DOID:5030", source="MONDO:exact-label-match"} xref: ONCOTREE:PPTID {source="MONDO:equivalentTo"} @@ -113276,6 +113624,7 @@ replaced_by: MONDO:0016723 id: MONDO:0006372 name: pituicytoma def: "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." [NCIT:C94524] +subset: gard_rare {source="GARD:20711"} subset: ordo_disease {source="Orphanet:251623"} synonym: "pituicytoma" EXACT [NCIT:C94524] synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524] @@ -113283,6 +113632,7 @@ synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524] synonym: "PTCY" RELATED ABBREVIATION [ONCOTREE:PTCY] xref: DOID:0081280 {source="MONDO:equivalentTo"} xref: EFO:1000477 {source="MONDO:equivalentTo"} +xref: GARD:20711 {source="Orphanet:251623"} xref: ICD10CM:C71.9 {source="Orphanet:251623", source="Orphanet:251623/ntbt"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9432/1 {source="NCIT:C94524"} @@ -113299,6 +113649,7 @@ id: MONDO:0006373 name: pituitary gland adenoma def: "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." [NCIT:C3329] subset: disease_grouping +subset: gard_rare {source="GARD:19680"} subset: ordo_group_of_disorders {source="Orphanet:99408"} synonym: "adenoma of pituitary" EXACT [NCIT:C3329] synonym: "adenoma of pituitary gland" EXACT [NCIT:C3329] @@ -113310,6 +113661,7 @@ synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329] synonym: "PTAD" RELATED ABBREVIATION [ONCOTREE:PTAD] xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"} xref: EFO:1000478 {source="MONDO:equivalentTo"} +xref: GARD:19680 {source="Orphanet:99408"} xref: ICD10CM:D35.2 {source="Orphanet:99408", source="Orphanet:99408/ntbt", source="MONDO:directSiblingOf"} xref: ICDO:8272/0 {source="NCIT:C3329"} xref: MedDRA:10035079 {source="EFO:1000478", source="Orphanet:99408", source="Orphanet:99408/e"} @@ -113471,10 +113823,12 @@ is_a: MONDO:0004970 {source="EFO:1000489", source="NCIT:C6040/inferred"} ! adeno id: MONDO:0006383 name: primary cutaneous diffuse large B-cell lymphoma, Leg type def: "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." [NCIT:C45194] +subset: gard_rare {source="GARD:20160"} subset: ordo_disease {source="Orphanet:178544"} synonym: "PCDLBCL,LT" EXACT [Orphanet:178544] synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815] xref: EFO:1000490 {source="MONDO:equivalentTo"} +xref: GARD:20160 {source="Orphanet:178544"} xref: ICD10CM:C83.3 {source="Orphanet:178544/ntbt", source="Orphanet:178544"} xref: ICDO:9680/3 {source="NCIT:C45194"} xref: NCIT:C45194 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000490"} @@ -113975,7 +114329,6 @@ is_a: MONDO:0005043 {source="EFO:1000525", source="NCIT:C35463/inferred"} ! hype id: MONDO:0006411 name: sinonasal undifferentiated carcinoma def: "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." [NCIT:C54294] -subset: gard_rare {source="GARD:0009249"} synonym: "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" RELATED [GARD:0009249] synonym: "Sinonasal anaplastic carcinoma" EXACT [NCIT:C54294] synonym: "sinonasal undifferentiated carcinoma" EXACT [NCIT:C54294] @@ -113995,6 +114348,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9249/sinonas id: MONDO:0006412 name: sinus histiocytosis with massive lymphadenopathy def: "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." [NCIT:P378] +subset: gard_rare {source="GARD:7588"} subset: ordo_disease synonym: "Destombes-RosaC/-Dorfman disease" EXACT [Orphanet:158014] synonym: "Destombes-Rosaï-Dorfman disease" EXACT [Orphanet:158014] @@ -114005,6 +114359,7 @@ synonym: "Rosaï-Dorfman-Destombes disease" EXACT [Orphanet:158014] synonym: "SHML" EXACT ABBREVIATION [Orphanet:158014] synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:158014] xref: EFO:1000528 {source="MONDO:equivalentTo"} +xref: GARD:7588 {source="Orphanet:158014"} xref: ICD10CM:D76.3 {source="Orphanet:158014"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063397 {source="Orphanet:158014"} @@ -114386,7 +114741,6 @@ replaced_by: MONDO:0016037 id: MONDO:0006438 name: synovial chondromatosis def: "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." [GARD:0006054] -subset: gard_rare {source="GARD:0006054"} synonym: "Henderson-Jones syndrome" EXACT [NCIT:C34467] synonym: "Reichel's syndrome" EXACT [NCIT:C34467] synonym: "synovial osteochondromatosis" RELATED [GARD:0006054] @@ -114445,7 +114799,6 @@ replaced_by: MONDO:0002522 id: MONDO:0006444 name: teratoma with malignant transformation def: "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." [NCIT:C4289] -subset: gard_rare {source="GARD:0010646"} synonym: "dermoid cyst with malignant transformation" EXACT [NCIT:C4289] synonym: "teratoma with malignant transformation" EXACT [NCIT:C4289] synonym: "TMT" RELATED ABBREVIATION [ONCOTREE:TMT] @@ -114493,6 +114846,7 @@ intersection_of: disease_has_location UBERON:0000473 ! testis id: MONDO:0006447 name: testicular non-seminomatous germ cell tumor def: "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." [NCIT:C9313] +subset: gard_rare {source="GARD:17561"} subset: ordo_disease {source="Orphanet:363494"} synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494] synonym: "non-dysgerminomatous germ cell tumour of testis" EXACT OMO:0003005 [] @@ -114507,6 +114861,7 @@ synonym: "testicular non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313] xref: DOID:4086 {source="MONDO:equivalentTo"} xref: EFO:1000570 {source="MONDO:equivalentTo"} +xref: GARD:17561 {source="Orphanet:363494"} xref: ICD10CM:C62.1 {source="Orphanet:363494", source="Orphanet:363494/ntbt"} xref: ICDO:9065/3 {source="NCIT:C9313"} xref: NCIT:C9313 {source="EFO:1000570", source="MONDO:equivalentTo"} @@ -114556,6 +114911,7 @@ relationship: realized_in_response_to MAXO:0000647 {source="NCIT:C27912"} ! chem id: MONDO:0006451 name: thymic carcinoma def: "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." [Orphanet:99868] +subset: gard_rare {source="GARD:19695"} subset: ordo_disease {source="Orphanet:99868"} synonym: "carcinoma of thymus" EXACT [MONDO:patterns/carcinoma] synonym: "malignant thymoma" EXACT [DOID:3284, NCIT:C7612, Orphanet:99868] @@ -114573,6 +114929,7 @@ synonym: "type C thymoma" EXACT DEPRECATED [MONDO:0003048, NCIT:C7569] xref: DOID:3284 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:4554 {source="MONDO:equivalentTo"} xref: EFO:1000576 {source="MONDO:equivalentTo"} +xref: GARD:19695 {source="Orphanet:99868"} xref: ICD10CM:C37 {source="Orphanet:99868", source="Orphanet:99868/ntbt"} xref: ICDO:8586/3 {source="NCIT:C7569"} xref: MedDRA:10061031 {source="Orphanet:99868", source="Orphanet:99868/e"} @@ -114648,6 +115005,7 @@ intersection_of: disease_has_location UBERON:0002370 ! thymus id: MONDO:0006456 name: thymoma def: "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." [NCIT:C3411] +subset: gard_rare {source="GARD:16922"} subset: ordo_disease {source="Orphanet:99867"} synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867] @@ -114657,6 +115015,7 @@ synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411] synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"} xref: EFO:1000581 {source="MONDO:equivalentTo"} +xref: GARD:16922 {source="Orphanet:99867"} xref: HP:0100522 {source="MONDO:otherHierarchy"} xref: ICD10CM:D15.0 {source="Orphanet:99867/ntbt", source="MONDO:relatedTo", source="Orphanet:99867"} xref: ICD10CM:D38.4 {source="Orphanet:99867/btnt", source="Orphanet:99867"} @@ -114842,7 +115201,7 @@ intersection_of: disease_has_location UBERON:0002046 ! thyroid gland id: MONDO:0006468 name: thyroid gland undifferentiated (anaplastic) carcinoma def: "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." [NCIT:C3878] -subset: gard_rare +subset: gard_rare {source="GARD:664"} subset: ordo_disease {source="Orphanet:142"} synonym: "anaplastic carcinoma of the thyroid" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of the thyroid gland" EXACT [NCIT:C3878] @@ -114873,6 +115232,7 @@ synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid tumour" EXACT OMO:0003005 [] xref: DOID:0080522 {source="MONDO:equivalentTo"} xref: EFO:1000595 {source="MONDO:equivalentTo"} +xref: GARD:664 {source="Orphanet:142"} xref: HP:0011779 {source="MONDO:otherHierarchy"} xref: ICD10CM:C73 {source="Orphanet:142", source="Orphanet:142/ntbt"} xref: MedDRA:10002240 {source="Orphanet:142/e", source="Orphanet:142"} @@ -114962,7 +115322,6 @@ replaced_by: MONDO:0001419 id: MONDO:0006474 name: transitional cell carcinoma def: "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." [NCIT:P378] -subset: gard_rare {source="GARD:0007794"} synonym: "carcinoma of transitional epithelial cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of urothelial cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, urothelial, malignant" EXACT [NCIT:C2930] @@ -115074,6 +115433,7 @@ intersection_of: disease_has_location UBERON:0001264 ! pancreas id: MONDO:0006479 name: undifferentiated pancreatic carcinoma with osteoclast-like giant cells def: "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." [NCIT:C5723] +subset: gard_rare {source="GARD:21782"} subset: ordo_disease {source="Orphanet:424080"} synonym: "OGCT of pancreas" EXACT [Orphanet:424080] synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723] @@ -115088,6 +115448,7 @@ synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cell synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723] xref: DOID:7718 {source="MONDO:equivalentTo"} xref: EFO:1000607 {source="MONDO:equivalentTo"} +xref: GARD:21782 {source="Orphanet:424080"} xref: ICD10CM:C25.0 {source="Orphanet:424080", source="Orphanet:424080/nd"} xref: ICD10CM:C25.1 {source="Orphanet:424080", source="Orphanet:424080/nd"} xref: ICD10CM:C25.2 {source="Orphanet:424080", source="Orphanet:424080/nd"} @@ -115217,6 +115578,7 @@ intersection_of: disease_has_location UBERON:0000995 ! uterus id: MONDO:0006486 name: uveal melanoma def: "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." [NCIT:P378] +subset: gard_rare {source="GARD:8621"} subset: ordo_disease {source="Orphanet:39044"} synonym: "choroidal melanoma" RELATED [Orphanet:39044] synonym: "intraocular melanoma" EXACT [NCIT:C7712] @@ -115230,6 +115592,7 @@ synonym: "uvea melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "uveal melanoma" EXACT [MONDO:0018313] xref: DOID:6039 {source="MONDO:equivalentTo"} xref: EFO:1000616 {source="MONDO:equivalentTo"} +xref: GARD:8621 {source="Orphanet:39044"} xref: ICD10CM:C69.3 {source="Orphanet:39044", source="Orphanet:39044/ntbt"} xref: MedDRA:10061252 {source="Orphanet:39044", source="Orphanet:39044/e"} xref: MESH:C536494 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"} @@ -115365,7 +115728,6 @@ replaced_by: MONDO:0002210 id: MONDO:0006493 name: Warthin tumor def: "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." [NCIT:C2854] -subset: gard_rare {source="GARD:0008569"} synonym: "adenolymphoma" EXACT [NCIT:C2854] synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854] synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569] @@ -115523,7 +115885,6 @@ id: MONDO:0006502 name: acute respiratory distress syndrome def: "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." [NCIT:C3353] comment: This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] -subset: gard_rare synonym: "acute lung injury" RELATED [GARD:0005698] synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698] synonym: "ALI" RELATED ABBREVIATION [GARD:0005698] @@ -115895,7 +116256,6 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0006523 name: acrodermatitis def: "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." [NCIT:P378] -subset: gard_rare {source="GARD:0005722"} xref: CSP:4008-0032 {source="DOID:2722"} xref: DOID:2722 {source="MONDO:equivalentTo", source="EFO:1000664"} xref: EFO:1000664 {source="MONDO:equivalentTo"} @@ -116201,7 +116561,6 @@ is_a: MONDO:0006615 {source="DOID:9230", source="EFO:1000688"} ! sweat gland dis id: MONDO:0006541 name: epidermolysis bullosa def: "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa] -subset: gard_rare {source="GARD:0006359"} synonym: "acantholysis bullosa" EXACT [DOID:2730] synonym: "EB" RELATED ABBREVIATION [GARD:0006359] synonym: "epidermolysis bullosa" EXACT [DOID:2730] @@ -116231,6 +116590,7 @@ id: MONDO:0006543 name: epidermolysis bullosa dystrophica def: "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:2150"} subset: ordo_group_of_disorders {source="Orphanet:303"} synonym: "DEB" EXACT ABBREVIATION [Orphanet:303] synonym: "dermolytic epidermolysis bullosa" EXACT [Orphanet:303] @@ -116239,6 +116599,7 @@ synonym: "epidermolysis bullosa dystrophica" EXACT [Orphanet:303] synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150] xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"} xref: EFO:1000692 {source="MONDO:equivalentTo"} +xref: GARD:2150 {source="Orphanet:303"} xref: ICD10CM:Q81.2 {source="Orphanet:303", source="Orphanet:303/e", source="Orphanet:303/specific", source="DOID:4959"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016108 {source="MONDO:equivalentTo", source="DOID:4959"} @@ -116275,7 +116636,6 @@ relationship: disease_has_infectious_agent NCBITaxon:1511900 {source="MONDO:Wiki id: MONDO:0006545 name: erythema multiforme def: "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." [https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme] -subset: gard_rare {source="GARD:0006372"} synonym: "Dermatostomatitis, erythema multiforme type" RELATED [GARD:0006372] synonym: "EM" RELATED ABBREVIATION [GARD:0006372] synonym: "erythema multiforme bullosum" RELATED [GARD:0006372] @@ -116456,7 +116816,6 @@ intersection_of: disease_has_inflammation_site UBERON:0002073 ! hair follicle id: MONDO:0006553 name: Fox-Fordyce disease def: "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease] -subset: gard_rare {source="GARD:0006462"} synonym: "apocrine miliaria" RELATED [GARD:0006462] synonym: "Fox Fordyce disease" EXACT [DOID:1381] synonym: "Fox-Fordyce disease" EXACT [DOID:1381] @@ -116479,7 +116838,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6462/fox-for id: MONDO:0006554 name: granuloma annulare def: "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." [https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare] -subset: gard_rare {source="GARD:0006546"} synonym: "granuloma annulare" EXACT [DOID:3777] synonym: "Granulome annulare" EXACT [DOID:3777] xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"} @@ -116550,7 +116908,7 @@ intersection_of: disease_has_location UBERON:0011818 ! superficial fascia id: MONDO:0006558 name: pemphigoid gestationis def: "A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." [https://www.dermnetnz.org/topics/pemphigoid-gestationis/] -subset: gard_rare {source="GARD:0006497"} +subset: gard_rare {source="GARD:6497"} subset: ordo_disease {source="Orphanet:63275"} synonym: "gestational herpes" EXACT DEPRECATED [DOID:14482] synonym: "gestational pemphigoid" EXACT [Orphanet:63275] @@ -116563,6 +116921,7 @@ synonym: "pemphigus gestationis" RELATED [DOID:0040098] xref: DOID:0040098 {source="MONDO:equivalentTo"} xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1000709 {source="MONDO:equivalentTo"} +xref: GARD:6497 {source="Orphanet:63275"} xref: ICD10CM:L12.8 {source="Orphanet:63275/ntbt", source="Orphanet:63275"} xref: ICD10CM:O26.4 {source="DOID:14482", source="DOID:0040098"} xref: ICD10CM:O26.40 {source="DOID:14482"} @@ -117003,12 +117362,13 @@ relationship: disease_causes_dysfunction_of CL:0000148 ! melanocyte id: MONDO:0006583 name: necrobiosis lipoidica def: "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." [https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica] -subset: gard_rare {source="GARD:0013040"} +subset: gard_rare {source="GARD:13040"} subset: ordo_disease synonym: "necrobiosis lipoidica" EXACT [DOID:3486] synonym: "necrobiosis lipoidica diabeticorum (formerly)" RELATED DEPRECATED [GARD:0013040] xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"} xref: EFO:1000738 {source="MONDO:equivalentTo"} +xref: GARD:13040 {source="Orphanet:542592"} xref: ICD10CM:L92.1 {source="GARD:0013040"} xref: MESH:D009335 {source="DOID:3486", source="MONDO:equivalentTo"} xref: NCIT:C34840 {source="DOID:3486", source="MONDO:equivalentTo"} @@ -117181,7 +117541,6 @@ relationship: excluded_subClassOf MONDO:0005546 {source="DOID:1526"} ! fibromyal id: MONDO:0006592 name: parapsoriasis def: "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." [https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis] -subset: gard_rare {source="GARD:0007328"} synonym: "digitate dermatosis" RELATED [GARD:0007328] synonym: "parapsoriasis en plaque" RELATED [GARD:0007328] xref: DOID:9088 {source="MONDO:equivalentTo", source="EFO:1000747"} @@ -117207,7 +117566,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7328/parapso id: MONDO:0006593 name: pelvic lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." [NCIT:C27486] -subset: gard_rare {source="GARD:0007350"} synonym: "Excess of mature unencapsulated fatty tissue in the pelvis" RELATED [GARD:0007350] synonym: "pelvic lipomatosis" EXACT [NCIT:C27486] synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [DOID:3927] @@ -117224,7 +117582,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7350/pelvic- id: MONDO:0006594 name: pemphigus def: "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" [https://rarediseases.info.nih.gov/diseases/7352/pemphigus] -subset: gard_rare {source="GARD:0007352"} xref: DOID:9182 {source="EFO:1000749", source="MONDO:equivalentTo"} xref: EFO:1000749 {source="MONDO:equivalentTo"} xref: ICD10CM:L10 {source="DOID:9182", source="MONDO:equivalentTo"} @@ -117362,12 +117719,14 @@ id: MONDO:0006602 name: porokeratosis def: "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:18989"} subset: ordo_group_of_disorders {source="Orphanet:79358"} synonym: "disseminated superficial actinic porokeratosis" RELATED EXCLUDE [DOID:3805] synonym: "porokeratosis" EXACT [MONDO:ambiguous] synonym: "porokeratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"} xref: EFO:1000757 {source="MONDO:equivalentTo"} +xref: GARD:18989 {source="Orphanet:79358"} xref: HP:0200044 {source="MONDO:otherHierarchy"} xref: ICD10CM:L56.5 {source="DOID:3805"} xref: ICD10CM:Q82.8 {source="Orphanet:79358", source="Orphanet:79358/ntbt"} @@ -117441,6 +117800,7 @@ is_a: MONDO:0005093 {source="DOID:3136", source="EFO:1000761", source="MESH:D012 id: MONDO:0006606 name: scleredema adultorum def: "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." [NCIT:C85057] +subset: gard_rare {source="GARD:5975"} subset: ordo_disease {source="Orphanet:352763"} synonym: "Buschke scleredema" EXACT [MESH:D012592, Orphanet:352763] synonym: "Buschke scleredema adultorum" RELATED [MESH:D012592] @@ -117459,6 +117819,7 @@ synonym: "scleredema, Buschke's" EXACT [MESH:D012592] synonym: "scleredemas" EXACT [MESH:D012592] xref: DOID:3140 {source="EFO:1000762", source="MONDO:equivalentTo"} xref: EFO:1000762 {source="MONDO:equivalentTo"} +xref: GARD:5975 {source="Orphanet:352763"} xref: ICD10CM:M34.8 {source="Orphanet:352763", source="Orphanet:352763/ntbt"} xref: MESH:D012592 {source="MONDO:equivalentTo", source="DOID:3140"} xref: NCIT:C85057 {source="MONDO:equivalentTo", source="DOID:3140"} @@ -117638,6 +117999,7 @@ is_a: MONDO:0001308 {source="DOID:12311"} ! corneal deposit id: MONDO:0006614 name: subcorneal pustular dermatosis def: "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." [Orphanet:48377] +subset: gard_rare {source="GARD:13606"} subset: ordo_disease {source="Orphanet:48377"} synonym: "pustulosis subcornealis" EXACT [Orphanet:48377] synonym: "Sneddon-Wilkinson disease" EXACT [Orphanet:48377] @@ -117646,6 +118008,7 @@ synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377] synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM:694.1] xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"} xref: EFO:1000771 {source="MONDO:equivalentTo"} +xref: GARD:13606 {source="Orphanet:48377"} xref: ICD10CM:L13.1 {source="Orphanet:48377/e", source="DOID:8508", source="Orphanet:48377"} xref: ICD9:694.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8508"} xref: MedDRA:10042342 {source="Orphanet:48377/e", source="Orphanet:48377"} @@ -118033,6 +118396,7 @@ id: MONDO:0006639 name: adrenal cortex carcinoma def: "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325] comment: NCIT treats carcinoma and adenocarcinoma as synonyms. +subset: gard_rare {source="GARD:558"} subset: ordo_disease {source="Orphanet:1501"} synonym: "ACC" EXACT ABBREVIATION [ONCOTREE:ACC] synonym: "adenocarcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] @@ -118063,6 +118427,7 @@ xref: DOID:3948 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", xref: DOID:3959 {source="MONDO:equivalentTo"} xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"} xref: EFO:1000796 {source="MONDO:equivalentTo"} +xref: GARD:558 {source="Orphanet:1501"} xref: HP:0006744 {source="MONDO:otherHierarchy"} xref: ICD10CM:C74.0 {source="Orphanet:1501", source="DOID:660", source="Orphanet:1501/e"} xref: ICDO:8370/3 {source="NCIT:C9325"} @@ -118290,7 +118655,6 @@ is_a: MONDO:0020120 {source="EFO:1000808", source="MESH:D000868/inferred"} ! ske id: MONDO:0006649 name: anterior ischemic optic neuropathy def: "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." [https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy] -subset: gard_rare {source="GARD:0009790"} synonym: "aion" RELATED [GARD:0009790] synonym: "ischaemic optic neuropathy" EXACT OMO:0003005 [] synonym: "ischemic optic neuropathy" EXACT [DOID:12010, ICD9CM:377.41] @@ -118330,6 +118694,7 @@ id: MONDO:0006651 name: anterior uveitis def: "Inflammation of the iris and anterior chamber of the eye." [NCIT:C35109] subset: disease_grouping +subset: gard_rare {source="GARD:10941"} subset: ordo_group_of_disorders {source="Orphanet:280886"} synonym: "anterior uveitis" EXACT [MONDO:0017253, MONDO:ambiguous, NCIT:C35109] synonym: "anterior uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -118337,6 +118702,7 @@ synonym: "iridocyclitis" NARROW [Orphanet:280886] xref: CSP:1114-9593 {source="DOID:1407"} xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"} xref: EFO:1000811 {source="MONDO:equivalentTo"} +xref: GARD:10941 {source="Orphanet:280886"} xref: HP:0012122 {source="MONDO:otherHierarchy"} xref: ICD10CM:H20.0 {source="Orphanet:280886/btnt", source="Orphanet:280886"} xref: ICD10CM:H20.1 {source="Orphanet:280886/btnt", source="Orphanet:280886"} @@ -118548,7 +118914,7 @@ id: MONDO:0006663 name: perinatal asphyxia def: "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." [https://www.ncbi.nlm.nih.gov/books/NBK430782/] comment: Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] -subset: gard_rare {source="GARD:0005857"} +subset: gard_rare {source="GARD:19875"} synonym: "asphyxia - birth" EXACT [DOID:11088] synonym: "asphyxia neonatorum" EXACT [MESH:D001238] synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088] @@ -118570,6 +118936,7 @@ synonym: "perinatal hypoxia" EXACT [Orphanet:137577] synonym: "postnatal asphyxia" EXACT [DOID:11088] xref: DOID:11088 {source="MONDO:equivalentTo", source="EFO:1000824"} xref: EFO:1000824 {source="MONDO:equivalentTo"} +xref: GARD:19875 {source="Orphanet:137577"} xref: ICD10CM:P84 {source="DOID:11088"} xref: ICD9:768.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11088"} xref: MESH:D001238 {source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"} @@ -118589,6 +118956,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5857/asphyxi id: MONDO:0006664 name: atrial septal defect def: "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." [Orphanet:1478] +subset: gard_rare {source="GARD:15018"} subset: ordo_morphological_anomaly {source="Orphanet:1478"} synonym: "ASD" EXACT ABBREVIATION [Orphanet:1478] synonym: "atrial septal defect" EXACT [DOID:1882, Orphanet:1478] @@ -118602,6 +118970,7 @@ synonym: "interauricular communication" EXACT [Orphanet:1478] synonym: "interauricular septal defect" EXACT [DOID:1882] xref: DOID:1882 {source="MONDO:equivalentTo", source="EFO:1000825"} xref: EFO:1000825 {source="MONDO:equivalentTo"} +xref: GARD:15018 {source="Orphanet:1478"} xref: ICD10CM:Q21.1 {source="DOID:1882", source="Orphanet:1478", source="Orphanet:1478/specific", source="Orphanet:1478/e"} xref: MedDRA:10003664 {source="Orphanet:1478", source="Orphanet:1478/e"} xref: MedDRA:10019308 {source="EFO:1000825"} @@ -118726,7 +119095,6 @@ property_value: IAO:0000589 "bacterial endocarditis (disease)" xsd:string id: MONDO:0006670 name: bacterial meningitis def: "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." [NCIT:P378] -subset: gard_rare {source="GARD:0005881"} synonym: "Bacteria caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria infectious meningitis" EXACT [] synonym: "meningitis, bacterial" RELATED [GARD:0005881] @@ -118852,7 +119220,6 @@ id: MONDO:0006676 name: beriberi def: "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." [https://rarediseases.info.nih.gov/diseases/9948/beriberi] comment: Editor note: check if beriberi should be made a subclass of TD -subset: gard_rare {source="GARD:0009948"} synonym: "Beri Beri" EXACT [NCIT:C34418] synonym: "thiamine deficiency" EXACT [GARD:0009948] synonym: "vitamin B1 deficiency" EXACT [GARD:0009948] @@ -118928,7 +119295,6 @@ is_a: MONDO:0006026 {source="DOID:13948", source="EFO:1000840", source="MESH:D00 id: MONDO:0006680 name: blue nevus def: "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." [NCIT:C3803] -subset: gard_rare synonym: "benign mesenchymal melanoma" RELATED [GARD:0008452] synonym: "blue neuronevus" RELATED [GARD:0008452] synonym: "blue nevus" EXACT [GARD:0008452] @@ -118970,7 +119336,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:138 ! Borrelia id: MONDO:0006682 name: brachial plexus neuritis def: "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." [NCIT:P378] -subset: gard_rare synonym: "acute brachial neuritis" RELATED [GARD:0004228] synonym: "acute brachial neuritis syndrome" RELATED [GARD:0004228] synonym: "acute brachial radiculitis syndrome" RELATED [GARD:0004228] @@ -119072,6 +119437,7 @@ intersection_of: disease_has_location UBERON:0002298 ! brainstem id: MONDO:0006687 name: burning mouth syndrome def: "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." [NCIT:P378] +subset: gard_rare {source="GARD:5974"} subset: ordo_disease {source="Orphanet:353253"} synonym: "BMS" EXACT ABBREVIATION [Orphanet:353253] synonym: "oral dysesthesia" EXACT [Orphanet:353253] @@ -119080,6 +119446,7 @@ synonym: "stomatodynia" EXACT [Orphanet:353253] synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253] xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"} xref: EFO:1000850 {source="MONDO:equivalentTo"} +xref: GARD:5974 {source="Orphanet:353253"} xref: ICD10CM:K14.6 {source="Orphanet:353253", source="Orphanet:353253/btnt"} xref: MedDRA:10068065 {source="EFO:1000850"} xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} @@ -119099,7 +119466,6 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare id: MONDO:0006688 name: byssinosis def: "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." [NCIT:P378] -subset: gard_rare {source="GARD:0005976"} synonym: "cotton dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] synonym: "cotton mill fever" EXACT [DOID:10323] synonym: "flax-dressers' disease" EXACT [DOID:10323] @@ -119323,11 +119689,13 @@ is_a: MONDO:0006373 {source="DOID:3828"} ! pituitary gland adenoma id: MONDO:0006702 name: chronic inflammatory demyelinating polyradiculoneuropathy def: "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] +subset: gard_rare {source="GARD:6102"} synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:2932] synonym: "chronic relapsing polyneuropathy" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] synonym: "CIDP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, OMIM:139393, Orphanet:2932] xref: DOID:5213 {source="MONDO:equivalentTo", source="EFO:1000868"} xref: EFO:1000868 {source="MONDO:equivalentTo"} +xref: GARD:6102 {source="Orphanet:2932"} xref: ICD10CM:G61.81 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: ICD9:357.81 {source="DOID:5213", source="MONDO:directSiblingOf"} xref: ICD9:357.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -119973,7 +120341,6 @@ relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1000911"} ! reprodu id: MONDO:0006738 name: eccrine acrospiroma def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250] -subset: gard_rare synonym: "acrospiroma, eccrine" RELATED [MESH:D018250] synonym: "acrospiromas" RELATED [MESH:D018250] synonym: "acrospiromas, eccrine" RELATED [MESH:D018250] @@ -120034,7 +120401,6 @@ is_a: MONDO:0004989 {source="DOID:5050", source="EFO:1000913"} ! breast carcinom id: MONDO:0006740 name: empty sella syndrome def: "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome] -subset: gard_rare {source="GARD:0006331"} synonym: "empty sella" EXACT [NCIT:C84686] synonym: "empty sella syndrome" EXACT [DOID:3642] synonym: "empty sella turcica" RELATED [GARD:0006331] @@ -120128,7 +120494,7 @@ is_a: MONDO:0004900 {source="DOID:9848"} ! peripheral vertigo id: MONDO:0006745 name: endometrioid stromal sarcoma def: "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." [NCIT:C8973] -subset: gard_rare {source="GARD:0006339"} +subset: gard_rare {source="GARD:6339"} subset: ordo_disease {source="Orphanet:213711"} synonym: "endometrial stromal sarcoma" EXACT [MESH:D018203, NCIT:C8973] synonym: "endometrial stromal sarcoma, high grade" EXACT [DOID:4226] @@ -120143,6 +120509,7 @@ synonym: "stromal sarcomas, endometrial" EXACT [MESH:D018203] synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972] xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"} xref: EFO:1000919 {source="MONDO:equivalentTo"} +xref: GARD:6339 {source="Orphanet:213711"} xref: ICD10CM:C54.1 {source="Orphanet:213711/ntbt", source="Orphanet:213711"} xref: ICDO:8930/3 {source="NCIT:C8973"} xref: MedDRA:10048397 {source="EFO:1000919"} @@ -120165,7 +120532,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6339/endomet id: MONDO:0006746 name: endomyocardial fibrosis def: "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." [NCIT:C34585] -subset: gard_rare {source="GARD:0006340"} synonym: "African endomyocardial fibrosis" EXACT [DOID:12932] synonym: "endomyocardial sclerosis" EXACT [DOID:12932] synonym: "obscure African cardiomyopathy" EXACT [DOID:12932] @@ -120688,7 +121054,6 @@ is_a: MONDO:0001165 {source="DOID:13500", source="MESH:D014064"} ! tongue disord id: MONDO:0006778 name: halo nevus def: "A benign melanocytic nevus with a halo appearance." [NCIT:C7602] -subset: gard_rare {source="GARD:0009421"} synonym: "halo nevi" EXACT [MONDO:0009322, OMIM:234300] synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [OMIM:234300] xref: DOID:2423 {source="EFO:1000958", source="MONDO:obsolete"} @@ -120899,7 +121264,6 @@ is_a: MONDO:0005570 {source="EFO:1000969"} ! hematologic disorder id: MONDO:0006790 name: hypercementosis def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936] -subset: gard_rare {source="GARD:0006692"} synonym: "cementation hyperplasia" EXACT [DOID:12733] xref: DOID:12733 {source="MONDO:equivalentTo", source="EFO:1000970"} xref: EFO:1000970 {source="MONDO:equivalentTo"} @@ -121249,6 +121613,7 @@ is_a: MONDO:0005010 {source="DOID:8805", source="EFO:1000985", source="EFO:10009 id: MONDO:0006806 name: intermediate uveitis def: "Inflammation of the pars plana." [NCIT:C35110] +subset: gard_rare {source="GARD:21065"} subset: ordo_disease {source="Orphanet:279914"} synonym: "chronic cyclitis" EXACT [DOID:12732] synonym: "intermediate uveitis" EXACT [MONDO:ambiguous] @@ -121258,6 +121623,7 @@ synonym: "pars planitis" NARROW [NCIT:C35110] synonym: "peripheral uveoretinitis" EXACT [DOID:12732] xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"} xref: EFO:1000986 {source="MONDO:equivalentTo"} +xref: GARD:21065 {source="Orphanet:279914"} xref: HP:0012124 {source="MONDO:otherHierarchy"} xref: ICD10CM:H30.2 {source="Orphanet:279914/ntbt", source="Orphanet:279914"} xref: MedDRA:10022557 {source="Orphanet:279914/e", source="EFO:1000986", source="Orphanet:279914"} @@ -121650,11 +122016,12 @@ is_a: MONDO:0004993 {source="EFO:1001007", source="MESH:D002287"} ! carcinoma id: MONDO:0006825 name: kuru def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729] -subset: gard_rare {source="GARD:0007617"} +subset: gard_rare {source="GARD:7617"} subset: ordo_disease {source="Orphanet:454745"} synonym: "kuru encephalopathy" EXACT [DOID:648] xref: DOID:648 {source="MONDO:equivalentTo", source="EFO:1001008"} xref: EFO:1001008 {source="MONDO:equivalentTo"} +xref: GARD:7617 {source="Orphanet:454745"} xref: ICD10CM:A81.8 {source="Orphanet:454745", source="Orphanet:454745/ntbt"} xref: ICD10CM:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001008"} @@ -121696,7 +122063,6 @@ is_a: MONDO:0001371 {source="DOID:13579"} ! protein-energy malnutrition id: MONDO:0006827 name: lateral medullary syndrome def: "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." [NCIT:P378] -subset: gard_rare synonym: "Lateral medullary syndrome" RELATED [GARD:0009263] synonym: "PICA syndrome" RELATED [GARD:0009263] synonym: "Posterior inferior cerebellar artery syndrome" EXACT [DOID:3522, GARD:0009263] @@ -122011,7 +122377,6 @@ is_a: MONDO:0006664 {source="DOID:1998", source="EFO:1001024", source="MESH:D008 id: MONDO:0006840 name: lymphangiectasis def: "Dilatation of the lymphatic vessels." [NCIT:C97087] -subset: gard_rare {source="GARD:0006933"} synonym: "lymphangiectasia" RELATED [GARD:0006933] xref: DOID:2402 {source="EFO:1001025", source="MONDO:obsolete"} xref: EFO:1001025 {source="MONDO:equivalentTo"} @@ -122228,6 +122593,7 @@ id: MONDO:0006851 name: meconium aspiration syndrome def: "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." [NCIT:C87093] comment: Editor note: ORDO says this is rare, yet NCIT says 5-10% of births +subset: gard_rare {source="GARD:10494"} subset: ordo_disease {source="Orphanet:70588"} synonym: "aspiration syndrome, meconium" RELATED [MESH:D008471] synonym: "aspiration, meconium" RELATED [MESH:D008471] @@ -122239,6 +122605,7 @@ synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, NCIT:C87093] synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471] xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"} xref: EFO:1001037 {source="MONDO:equivalentTo"} +xref: GARD:10494 {source="Orphanet:70588"} xref: ICD10CM:P24.0 {source="DOID:11049", source="EFO:1001037", source="Orphanet:70588", source="Orphanet:70588/e"} xref: ICD10CM:P24.00 {source="DOID:11049"} xref: ICD10CM:P24.01 {source="DOID:11049"} @@ -122397,6 +122764,7 @@ replaced_by: MONDO:0003036 id: MONDO:0006861 name: myeloid sarcoma def: "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" [NCIT:P378] +subset: gard_rare {source="GARD:12763"} subset: ordo_disease {source="Orphanet:86850"} synonym: "chloroma" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] @@ -122407,6 +122775,7 @@ synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520] synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520] xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"} xref: EFO:1001052 {source="MONDO:equivalentTo"} +xref: GARD:12763 {source="Orphanet:86850"} xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="Orphanet:86850/ntbt", source="MONDO:equivalentTo", source="DOID:8683"} xref: ICD10CM:C92.30 {source="DOID:8683"} xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"} @@ -122477,7 +122846,6 @@ is_a: MONDO:0001142 {source="DOID:12901", source="MESH:D012797"} ! salivary glan id: MONDO:0006865 name: necrotizing ulcerative gingivitis def: "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." [NCIT:P378] -subset: gard_rare synonym: "acute membranous gingivitis" RELATED [GARD:0005736] synonym: "acute necrotising ulcerative gingivitis" EXACT [DOID:13924] synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [DOID:13924] @@ -123353,10 +123721,12 @@ relationship: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0006908 name: pituitary apoplexy def: "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." [NCIT:P378] +subset: gard_rare {source="GARD:19287"} subset: ordo_disease {source="Orphanet:95613"} synonym: "pituitary gland apoplexy" EXACT [NCIT:C26853] xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"} xref: EFO:1001108 {source="MONDO:equivalentTo"} +xref: GARD:19287 {source="Orphanet:95613"} xref: ICD10CM:E23.6 {source="Orphanet:95613", source="Orphanet:95613/ntbt"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056447 {source="Orphanet:95613", source="EFO:1001108", source="Orphanet:95613/e"} @@ -123414,11 +123784,13 @@ is_a: MONDO:0005020 {source="DOID:13249", source="EFO:1001113", source="MESH:D01 id: MONDO:0006913 name: pneumococcal meningitis def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586] +subset: gard_rare {source="GARD:18849"} subset: ordo_disease {source="Orphanet:55655"} synonym: "Streptococcus pneumoniae caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus pneumoniae infectious meningitis" EXACT [] xref: DOID:11575 {source="EFO:1001114", source="MONDO:obsolete"} xref: EFO:1001114 {source="MONDO:equivalentTo"} +xref: GARD:18849 {source="Orphanet:55655"} xref: ICD10CM:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"} xref: ICD9:320.1 {source="EFO:1001114", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027253 {source="Orphanet:55655", source="Orphanet:55655/e"} @@ -123484,7 +123856,6 @@ id: MONDO:0006918 name: posterior uveitis def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866] comment: Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD -subset: gard_rare synonym: "chorioretinal region inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of chorioretinal region" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "uveitis, posterior" EXACT [DOID:12574] @@ -123906,13 +124277,14 @@ intersection_of: disease_has_location UBERON:0001492 ! radial nerve id: MONDO:0006941 name: rat-bite fever def: "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." [NCIT:C34971] -subset: gard_rare {source="GARD:0009557"} +subset: gard_rare {source="GARD:9557"} subset: ordo_disease {source="Orphanet:31205"} synonym: "rat bite fever" RELATED [GARD:0009557] synonym: "spirillosis" EXACT [NCIT:C34971] synonym: "Streptobacillosis" EXACT [NCIT:C34971] xref: DOID:12097 {source="EFO:1001144", source="MONDO:obsolete"} xref: EFO:1001144 {source="MONDO:equivalentTo"} +xref: GARD:9557 {source="Orphanet:31205"} xref: ICD10CM:A25.0 {source="Orphanet:31205/btnt", source="Orphanet:31205"} xref: ICD10CM:A25.1 {source="Orphanet:31205/btnt", source="Orphanet:31205"} xref: ICD10CM:A25.9 {source="Orphanet:31205/btnt", source="Orphanet:31205"} @@ -124076,6 +124448,7 @@ is_a: MONDO:0005328 {source="EFO:1001157", source="MESH:D012170/inferred", sourc id: MONDO:0006952 name: retinopathy of prematurity def: "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." [NCIT:P378] +subset: gard_rare {source="GARD:5695"} subset: ordo_disease {source="Orphanet:90050"} synonym: "premature retinopathy" EXACT [DOID:13025] synonym: "retrolental fibroplasia" EXACT [DOID:13025, ICD9CM:362.21, Orphanet:90050] @@ -124083,6 +124456,7 @@ synonym: "ROP" EXACT ABBREVIATION [OMIM:133780, Orphanet:90050] synonym: "Terry syndrome" EXACT [NCIT:C34982] xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"} xref: EFO:1001158 {source="MONDO:equivalentTo"} +xref: GARD:5695 {source="Orphanet:90050"} xref: ICD10CM:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e", source="DOID:13025"} xref: ICD10CM:H35.10 {source="DOID:13025"} xref: ICD10CM:H35.17 {source="DOID:13025"} @@ -124154,6 +124528,7 @@ name: Rickettsiosis def: "A group of infectious diseases that is caused by Rickettsia." [NCIT:C34991] comment: We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus subset: disease_grouping +subset: gard_rare {source="GARD:19827"} subset: ordo_group_of_disorders {source="Orphanet:102021"} synonym: "infection, Rickettsia" EXACT [MESH:D012282] synonym: "infections, Rickettsia" EXACT [MESH:D012282] @@ -124168,6 +124543,7 @@ synonym: "Rickettsial infectious disorder" EXACT [NCIT:C34991] synonym: "Rickettsiosis" EXACT [NCIT:C34991] xref: DOID:1709 {source="EFO:1001162", source="MONDO:obsolete"} xref: EFO:1001162 {source="MONDO:equivalentTo"} +xref: GARD:19827 {source="Orphanet:102021"} xref: ICD10CM:A75-A79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:083.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061495 {source="EFO:1001162"} @@ -124409,7 +124785,6 @@ id: MONDO:0006969 name: sialadenitis def: "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis] comment: Editor note: TODO check NCIT mapping -subset: gard_rare {source="GARD:0007638"} synonym: "adenitis, salivary gland" RELATED [GARD:0007638] synonym: "lymphadenitis (disease) of saliva-secreting gland" EXACT [] synonym: "saliva-secreting gland lymphadenitis (disease)" EXACT [MONDO:patterns/location] @@ -124569,7 +124944,7 @@ relationship: disease_arises_from_structure CL:0000192 {source="NCIT:C3751"} ! s id: MONDO:0006976 name: somatostatinoma def: "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." [NCIT:P378] -subset: gard_rare {source="GARD:0004900"} +subset: gard_rare {source="GARD:4900"} subset: ordo_disease {source="Orphanet:97283"} synonym: "ampullary somatostatinoma" RELATED [GARD:0004900] synonym: "carcinoid somatostatinoma" RELATED [GARD:0004900] @@ -124596,6 +124971,7 @@ synonym: "tumour of Delta cells" EXACT OMO:0003005 [] synonym: "tumour of the Delta cells" EXACT OMO:0003005 [] xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"} xref: EFO:1001187 {source="MONDO:equivalentTo"} +xref: GARD:4900 {source="Orphanet:97283"} xref: ICD10CM:E16.8 {source="Orphanet:97283", source="Orphanet:97283/ntbt"} xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8156/1 {source="NCIT:C3379"} @@ -124801,7 +125177,6 @@ is_a: MONDO:0005397 {source="DOID:13200", source="EFO:1001198", source="MESH:D00 id: MONDO:0006987 name: subvalvular aortic stenosis def: "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." [NCIT:P378] -subset: gard_rare {source="GARD:0005052"} xref: DOID:5805 {source="EFO:1001199", source="MONDO:equivalentTo"} xref: EFO:1001199 {source="MONDO:equivalentTo"} xref: MedDRA:10042431 {source="EFO:1001199"} @@ -124898,7 +125273,6 @@ is_a: MONDO:0005009 {source="DOID:9651", source="EFO:1001207"} ! congestive hear id: MONDO:0006994 name: tarsal tunnel syndrome def: "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." [https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome] -subset: gard_rare {source="GARD:0007733"} synonym: "neuropathy of the posterior tibial nerve and its branches" RELATED [GARD:0007733] synonym: "posterior tibial nerve neuralgia" RELATED [GARD:0007733] xref: DOID:12526 {source="MONDO:equivalentTo", source="EFO:1001208"} @@ -125260,10 +125634,12 @@ is_a: MONDO:0019338 {source="DOID:13404", source="EFO:1001232", source="MESH:D01 id: MONDO:0007012 name: variant Creutzfeldt-Jakob disease def: "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." [NCIT:C128438] +subset: gard_rare {source="GARD:9550"} subset: ordo_disease synonym: "vCJD" EXACT [NCIT:C128438] xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: EFO:1001233 {source="MONDO:equivalentTo"} +xref: GARD:9550 {source="Orphanet:576370"} xref: ICD10CM:A81.01 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: ICD9:046.11 {source="EFO:1001233", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064199 {source="EFO:1001233"} @@ -125569,6 +125945,7 @@ id: MONDO:0007029 name: branchio-oto-renal syndrome def: "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." [Orphanet:107] comment: (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. {source="EFO:1001251"} +subset: gard_rare {source="GARD:10147"} subset: ordo_malformation_syndrome {source="Orphanet:107"} synonym: "bor syndrome" RELATED [Orphanet:107] synonym: "Branchio oto renal syndrome" RELATED [GARD:0010147] @@ -125580,6 +125957,7 @@ synonym: "branchiootorenal syndrome" EXACT [Orphanet:107] synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702] xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: EFO:1001251 {source="MONDO:equivalentTo"} +xref: GARD:10147 {source="Orphanet:107"} xref: ICD10CM:Q87.8 {source="Orphanet:107/attributed", source="Orphanet:107/ntbt", source="Orphanet:107"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071135 {source="Orphanet:107", source="Orphanet:107/e"} @@ -125602,12 +125980,14 @@ property_value: confidence "0.14285714285714302" xsd:double id: MONDO:0007030 name: autosomal dominant Aarskog syndrome comment: We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) +subset: gard_rare {source="GARD:15029"} synonym: "Aarskog syndrome" RELATED [DOID:6683] synonym: "Aarskog syndrome, autosomal dominant" RELATED [OMIM:100050] synonym: "Aarskog-Scott syndrome" RELATED [DOID:6683] synonym: "faciogenital dysplasia" RELATED [DOID:6683] synonym: "Greig's syndrome" RELATED EXCLUDE [DOID:6683] xref: DOID:0111825 {source="MONDO:equivalentTo"} +xref: GARD:15029 {source="OMIM:100050"} xref: ICD10CM:Q87.1 {source="DOID:6683"} xref: MESH:C535331 {source="MONDO:directSiblingOf", source="DOID:6683"} xref: OMIM:100050 {source="MONDO:equivalentTo", source="DOID:6683"} @@ -125623,10 +126003,12 @@ is_a: MONDO:0021005 {source="MONDO:cjm"} ! faciodigitogenital syndrome id: MONDO:0007031 name: familial abdominal aortic aneurysm def: "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:9181"} subset: ordo_disease {source="Orphanet:86"} subset: prototype_pattern synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070] synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary] +xref: GARD:9181 {source="Orphanet:86"} xref: ICD10CM:I71.4 {source="Orphanet:86", source="Orphanet:86/attributed", source="Orphanet:86/ntbt"} xref: OMIMPS:100070 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"} @@ -125646,6 +126028,7 @@ property_value: confidence "1.144117647058823" xsd:double id: MONDO:0007032 name: prune belly syndrome def: "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." [Orphanet:2970] +subset: gard_rare {source="GARD:7479"} subset: ordo_malformation_syndrome {source="Orphanet:2970"} synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, Orphanet:2970] synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [OMIM:100100] @@ -125658,6 +126041,7 @@ synonym: "prune belly syndrome" EXACT [MONDO:Lexical, OMIM:100100] synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033] synonym: "triad syndrome" EXACT [Orphanet:2970] xref: DOID:0060889 {source="MONDO:equivalentTo"} +xref: GARD:7479 {source="Orphanet:2970"} xref: ICD10CM:Q79.4 {source="Orphanet:2970/attributed", source="Orphanet:2970/ntbt", source="Orphanet:2970", source="DOID:0060889"} xref: ICD9:756.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10051025 {source="Orphanet:2970", source="Orphanet:2970/e"} @@ -125726,7 +126110,7 @@ intersection_of: disease_has_location UBERON:0001646 ! abducens nerve id: MONDO:0007034 name: Adams-Oliver syndrome def: "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." [Orphanet:974] -subset: gard_rare {source="GARD:0005739"} +subset: gard_rare {source="GARD:5739"} subset: ordo_malformation_syndrome {source="Orphanet:974"} synonym: "Adams Oliver syndrome" EXACT [DOID:0060227] synonym: "AOS" EXACT ABBREVIATION [Orphanet:974] @@ -125735,6 +126119,7 @@ synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [ synonym: "limb scalp and skull defects" RELATED [GARD:0005739] synonym: "limb, scalp and skull defects" EXACT [Orphanet:974] xref: DOID:0060227 {source="MONDO:equivalentTo"} +xref: GARD:5739 {source="Orphanet:974"} xref: ICD10CM:Q87.2 {source="Orphanet:974/attributed", source="Orphanet:974/ntbt", source="Orphanet:974"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="Orphanet:974/e"} @@ -125778,7 +126163,6 @@ property_value: IAO:0000589 "acanthosis nigricans (disease)" xsd:string id: MONDO:0007036 name: Achard syndrome def: "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." [NCIT:P378] -subset: gard_rare {source="GARD:0008176"} synonym: "Achard syndrome" EXACT [OMIM:100700] synonym: "arachnodactyly, receding lower jaw and joint laxity of hands/feet" RELATED [GARD:0008176] xref: DOID:6686 {source="MONDO:equivalentTo"} @@ -125795,7 +126179,7 @@ id: MONDO:0007037 name: Achondroplasia def: "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." [Orphanet:15] subset: clingen -subset: gard_rare {source="GARD:0008173"} +subset: gard_rare {source="GARD:8173"} subset: ordo_disease {source="Orphanet:15"} synonym: "ACH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:100800] synonym: "Achondroplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:100800] @@ -125804,6 +126188,7 @@ synonym: "Achondroplastic physique" EXACT [DOID:4480] synonym: "chondrodystrophia" EXACT [DOID:4480] synonym: "osteosclerosis congenita" EXACT EXCLUDE [DOID:4480] xref: DOID:4480 {source="MONDO:equivalentTo"} +xref: GARD:8173 {source="Orphanet:15"} xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"} xref: MedDRA:10000452 {source="Orphanet:15", source="Orphanet:15/e"} xref: MESH:D000130 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} @@ -125847,6 +126232,7 @@ id: MONDO:0007039 name: neurofibromatosis type 2 def: "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." [Orphanet:637] subset: clingen +subset: gard_rare {source="GARD:7193"} subset: ordo_disease {source="Orphanet:637"} synonym: "acoustic neurinoma bilateral" RELATED [GARD:0007193] synonym: "acoustic neurinoma, bilateral" RELATED [OMIM:101000] @@ -125864,6 +126250,7 @@ synonym: "neurofibromatosis, type 2" RELATED [OMIM:101000] synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000] synonym: "NF2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637] xref: DOID:0111252 {source="MONDO:equivalentTo"} +xref: GARD:7193 {source="Orphanet:637"} xref: ICD10CM:Q85.0 {source="Orphanet:637", source="Orphanet:637/attributed", source="Orphanet:637/ntbt"} xref: ICD10CM:Q85.02 {source="MONDO:equivalentTo"} xref: ICD9:237.72 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -125888,7 +126275,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007040 name: Sakati-Nyhan syndrome def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [DOID:0060359, Wikipedia:Sakati–Nyhan–Tisdale_syndrome] -subset: gard_rare synonym: "ACPS 3" RELATED [GARD:0000115, OMIM:101120] synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359] synonym: "ACPS3" RELATED ABBREVIATION [GARD:0000115] @@ -125911,6 +126297,7 @@ is_a: MONDO:0019796 {source="DOID:0060359"} ! acrocephalosyndactyly id: MONDO:0007041 name: Apert syndrome def: "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." [Orphanet:87] +subset: gard_rare {source="GARD:5833"} subset: ordo_malformation_syndrome {source="Orphanet:87"} synonym: "acrocephalo-syndactyly type 1" RELATED [GARD:0005833] synonym: "acrocephalosyndactyly type 1" EXACT [Orphanet:87] @@ -125925,6 +126312,7 @@ synonym: "Apert-Crouzon disease" RELATED [OMIM:101200] synonym: "syndactylic oxycephaly" RELATED [GARD:0005833] synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099] synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200] +xref: GARD:5833 {source="Orphanet:87"} xref: ICD10CM:Q87.0 {source="Orphanet:87", source="Orphanet:87/ntbt", source="Orphanet:87/inclusion"} xref: MedDRA:10002943 {source="Orphanet:87", source="Orphanet:87/e"} xref: MESH:D000168 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} @@ -125950,7 +126338,7 @@ id: MONDO:0007042 name: Saethre-Chotzen syndrome def: "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." [Orphanet:794] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0007598"} +subset: gard_rare {source="GARD:7598"} subset: ordo_malformation_syndrome {source="Orphanet:794"} synonym: "acrocephalo-syndactyly, type 3" RELATED [GARD:0007598] synonym: "acrocephalosyndactyly type 3" EXACT [Orphanet:794] @@ -125970,6 +126358,7 @@ synonym: "SCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101400, Orphanet:794] synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034] xref: DOID:14768 {source="MONDO:equivalentTo"} xref: EFO:0007029 {source="MONDO:equivalentTo"} +xref: GARD:7598 {source="Orphanet:794"} xref: ICD10CM:Q87.0 {source="Orphanet:794/attributed", source="Orphanet:794/ntbt", source="Orphanet:794"} xref: MESH:D000168 {source="DOID:14768", source="MONDO:directSiblingOf"} xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo"} @@ -125996,7 +126385,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7598/saethre id: MONDO:0007043 name: Pfeiffer syndrome def: "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." [Orphanet:710] -subset: gard_rare {source="GARD:0007380"} +subset: gard_rare {source="GARD:7380"} subset: ordo_malformation_syndrome {source="Orphanet:710"} synonym: "acrocephalosyndactylia type V" EXACT [DOID:14705] synonym: "acrocephalosyndactyly type 5" EXACT [Orphanet:710] @@ -126010,6 +126399,7 @@ synonym: "Pfeiffer syndrome" EXACT [OMIM:101600] synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380] synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100] xref: DOID:14705 {source="MONDO:equivalentTo"} +xref: GARD:7380 {source="Orphanet:710"} xref: ICD10CM:Q87.0 {source="Orphanet:710/attributed", source="Orphanet:710/ntbt", source="Orphanet:710"} xref: MESH:C538582 {source="Orphanet:710", source="Orphanet:710/e"} xref: MESH:D000168 {source="DOID:14705", source="MONDO:directSiblingOf"} @@ -126034,11 +126424,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7380/pfeiffe id: MONDO:0007044 name: Acrodysostosis 1 with or without hormone resistance def: "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." [NCIT:C136464] +subset: gard_rare {source="GARD:15030"} synonym: "ACRDYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101800] synonym: "Acrodysostosis 1" EXACT [NCIT:C136464] synonym: "Acrodysostosis 1 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:101800] synonym: "Acrodysostosis 1, with or without hormone resistance" EXACT [OMIM:101800, OMIM:genemap2] synonym: "ADOHR" EXACT ABBREVIATION [OMIM:101800] +xref: GARD:15030 {source="OMIM:101800"} xref: NCIT:C136464 {source="MONDO:equivalentTo"} xref: OMIM:101800 {source="MONDO:equivalentTo"} xref: Orphanet:280651 {source="OMIM:101800"} @@ -126056,6 +126448,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007045 name: acrofacial dysostosis, Catania type def: "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." [Orphanet:1786] +subset: gard_rare {source="GARD:494"} subset: ordo_malformation_syndrome {source="Orphanet:1786"} synonym: "acrofacial dysostosis Catania type" RELATED [GARD:0000494] synonym: "acrofacial dysostosis, Catania type" EXACT [OMIM:101805] @@ -126064,6 +126457,7 @@ synonym: "Afd, Catania type" RELATED [OMIM:101805] synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384] synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786] xref: DOID:0060384 {source="MONDO:equivalentTo"} +xref: GARD:494 {source="Orphanet:1786"} xref: ICD10CM:Q75.4 {source="Orphanet:1786", source="Orphanet:1786/attributed", source="Orphanet:1786/ntbt"} xref: MESH:C538182 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: OMIM:101805 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} @@ -126097,6 +126491,7 @@ id: MONDO:0007047 name: punctate palmoplantar keratoderma type III def: "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" [Orphanet:38] comment: Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 +subset: gard_rare {source="GARD:125"} subset: ordo_disease {source="Orphanet:38"} synonym: "acrokeratoelastoidosis" RELATED [OMIM:101850] synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362] @@ -126116,6 +126511,7 @@ synonym: "rare form of Hirschsprung's disease" RELATED [GARD:0000133] synonym: "TIA" RELATED ABBREVIATION [GARD:0000133] xref: DOID:0060362 {source="MONDO:equivalentTo", source="EFO:1000758"} xref: EFO:1000758 {source="MONDO:equivalentTo"} +xref: GARD:125 {source="Orphanet:38"} xref: ICD10CM:Q82.8 {source="Orphanet:38", source="Orphanet:38/attributed", source="Orphanet:38/ntbt"} xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} @@ -126136,6 +126532,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007048 name: acrokeratosis verruciformis def: "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." [NCIT:C27519] +subset: gard_rare {source="GARD:16707"} subset: ordo_disease {source="Orphanet:79151"} synonym: "acrokeratosis verruciformis" EXACT [MONDO:Lexical, OMIM:101900] synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606] @@ -126144,6 +126541,7 @@ synonym: "AKV of Hopf" EXACT [Orphanet:79151] synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900] xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"} xref: EFO:1000666 {source="MONDO:equivalentTo"} +xref: GARD:16707 {source="Orphanet:79151"} xref: ICD10CM:Q82.8 {source="Orphanet:79151", source="Orphanet:79151/attributed", source="Orphanet:79151/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069445 {source="Orphanet:79151", source="Orphanet:79151/e"} @@ -126171,7 +126569,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007050 name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma -subset: gard_rare {source="GARD:0000500"} synonym: "acromegaloid changes, cutis verticis gyrata and corneal leukoma" RELATED [GARD:0000500] synonym: "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" EXACT [OMIM:102100] synonym: "acromegaly-cutis verticis gyrata-corneal leukoma syndrome" EXACT [Orphanet:964] @@ -126188,7 +126585,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/500/acromega id: MONDO:0007051 name: acromegaloid facial appearance syndrome def: "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." [Orphanet:965] -subset: gard_rare {source="GARD:0000501"} subset: ordo_malformation_syndrome {source="Orphanet:965"} synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150] synonym: "AFA syndrome" RELATED [OMIM:102150] @@ -126269,12 +126665,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007055 name: Acromicric dysplasia def: "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:969] -subset: gard_rare {source="GARD:0000007"} +subset: gard_rare {source="GARD:7"} subset: ordo_malformation_syndrome {source="Orphanet:969"} synonym: "ACMICD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102370] synonym: "Acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370] synonym: "Acromicric skeletal dysplasia" RELATED [GARD:0000007] xref: DOID:0111243 {source="MONDO:equivalentTo"} +xref: GARD:7 {source="Orphanet:969"} xref: ICD10CM:Q77.8 {source="Orphanet:969", source="Orphanet:969/attributed", source="Orphanet:969/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535662 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} @@ -126293,7 +126690,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7/acromicric id: MONDO:0007056 name: acroosteolysis def: "A condition that is characterized by degeneration of the distal phalanges." [NCIT:C35545] +subset: gard_rare {source="GARD:15031"} synonym: "acroosteolysis" EXACT [OMIM:102400] +xref: GARD:15031 {source="OMIM:102400"} xref: MESH:D030981 {source="MONDO:equivalentTo"} xref: NCIT:C35545 {source="MONDO:equivalentTo"} xref: OMIM:102400 {source="MONDO:equivalentTo"} @@ -126307,7 +126706,7 @@ property_value: confidence "2.333333333333334" xsd:double id: MONDO:0007057 name: Acroosteolysis dominant type def: "A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." [https://orcid.org/0000-0001-5208-3432, Orphanet:955] -subset: gard_rare {source="GARD:0000508"} +subset: gard_rare {source="GARD:508"} subset: ordo_malformation_syndrome {source="Orphanet:955"} synonym: "acrodentoosteodysplasia" EXACT [Orphanet:955] synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [OMIM:102500, Orphanet:955] @@ -126319,6 +126718,7 @@ synonym: "serpentine fibula polycystic kidney syndrome" EXACT [MESH:C537586] synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [OMIM:102500] synonym: "serpentine fibula-polycystic kidneys syndrome" EXACT [GARD:0000508] xref: DOID:2736 {source="MONDO:equivalentTo"} +xref: GARD:508 {source="Orphanet:955"} xref: ICD10CM:M89.5 {source="Orphanet:955/attributed", source="Orphanet:955/ntbt", source="Orphanet:955"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C531695 {source="MONDO:equivalentObsolete", source="Orphanet:955", source="Orphanet:955/e"} @@ -126353,12 +126753,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/508/acrooste id: MONDO:0007058 name: Acropectorovertebral dysplasia def: "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." [https://orcid.org/0000-0001-5208-3432, Orphanet:957] -subset: gard_rare +subset: gard_rare {source="GARD:512"} subset: ordo_malformation_syndrome {source="Orphanet:957"} synonym: "Acropectorovertebral dysplasia" EXACT [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "Acropectorovertebral dysplasia F form" RELATED [GARD:0000512] synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957] +xref: GARD:512 {source="Orphanet:957"} xref: ICD10CM:Q74.8 {source="Orphanet:957", source="Orphanet:957/attributed", source="Orphanet:957/ntbt"} xref: MESH:C566319 {source="MONDO:equivalentTo"} xref: OMIM:102510 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="Orphanet:957/e"} @@ -126375,9 +126776,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/512/acropect id: MONDO:0007059 name: acrorenal syndrome def: "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." [Orphanet:971] +subset: gard_rare {source="GARD:514"} subset: ordo_malformation_syndrome {source="Orphanet:971"} synonym: "acrorenal syndrome" EXACT [OMIM:102520] xref: DOID:0060347 {source="MONDO:equivalentTo"} +xref: GARD:514 {source="Orphanet:971"} xref: ICD10CM:Q87.2 {source="Orphanet:971/attributed", source="Orphanet:971/ntbt", source="Orphanet:971"} xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo"} xref: OMIM:102520 {source="Orphanet:971/e", source="DOID:0060347", source="MONDO:equivalentTo", source="Orphanet:971"} @@ -126393,6 +126796,7 @@ property_value: confidence "4.775" xsd:double id: MONDO:0007060 name: spermatogenic failure 6 def: "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15032"} synonym: "acrosome malformation of spermatozoa" RELATED [OMIM:102530] synonym: "azoospermia caused by mutation in SPATA16" EXACT [MONDO:design_pattern] synonym: "globozoospermia" RELATED [OMIM:102530] @@ -126403,6 +126807,7 @@ synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1, OMIM:102530] synonym: "spermatozoa, round-headed" RELATED [OMIM:102530] synonym: "SPGF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102530] xref: DOID:0070167 {source="MONDO:equivalentTo"} +xref: GARD:15032 {source="OMIM:102530"} xref: OMIM:102530 {source="MONDO:equivalentTo"} xref: Orphanet:171709 {source="OMIM:102530"} xref: Orphanet:399808 {source="OMIM:102530"} @@ -126432,7 +126837,7 @@ is_obsolete: true id: MONDO:0007062 name: adactylia, unilateral def: "A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced." [Orphanet:973] -subset: gard_rare +subset: gard_rare {source="GARD:377"} subset: ordo_clinical_subtype {source="Orphanet:973"} synonym: "adactylia unilateral" EXACT [GARD:0000377] synonym: "adactylia, unilateral" EXACT [OMIM:102650] @@ -126441,6 +126846,7 @@ synonym: "congenital absence/hypoplasia of fingers excluding thumb, unilateral" synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973] synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973] synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650] +xref: GARD:377 {source="Orphanet:973"} xref: ICD10CM:Q71.3 {source="Orphanet:973", source="Orphanet:973/attributed", source="Orphanet:973/ntbt"} xref: MESH:C562417 {source="MONDO:equivalentTo"} xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="Orphanet:973/e"} @@ -126468,7 +126874,7 @@ replaced_by: MONDO:0002422 id: MONDO:0007064 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency def: "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." [Orphanet:277] -subset: gard_rare {source="GARD:0005748"} +subset: gard_rare {source="GARD:5748"} subset: ordo_disease {source="Orphanet:277"} synonym: "ADA" EXACT ABBREVIATION [DOID:5810] synonym: "ADA deficiency" EXACT [Orphanet:277] @@ -126490,6 +126896,7 @@ synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative xref: CSP:1560-6660 {source="DOID:5810"} xref: DOID:5810 {source="MONDO:equivalentTo"} xref: EFO:0009147 {source="MONDO:equivalentTo"} +xref: GARD:5748 {source="Orphanet:277"} xref: ICD10CM:D81.3 {source="Orphanet:277/specific", source="DOID:5810", source="Orphanet:277/e", source="Orphanet:277"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066367 {source="Orphanet:277/e", source="Orphanet:277"} @@ -126524,7 +126931,6 @@ replaced_by: MONDO:0020458 [Term] id: MONDO:0007066 name: adenosine triphosphatase deficiency, anemia due to -subset: gard_rare {source="GARD:0000548"} synonym: "adenosine triphosphatase deficiency anaemia" RELATED OMO:0003005 [] synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548] synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800] @@ -126555,6 +126961,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007068 name: adenylosuccinate lyase deficiency def: "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." [Orphanet:46] +subset: gard_rare {source="GARD:550"} subset: ordo_disease {source="Orphanet:46"} synonym: "adenylosuccinase deficiency" EXACT [OMIM:103050, Orphanet:46] synonym: "adenylosuccinase lyase deficiency" RELATED [DOID:0050762] @@ -126566,6 +126973,7 @@ synonym: "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)s synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050762 {source="MONDO:equivalentTo"} +xref: GARD:550 {source="Orphanet:46"} xref: ICD10CM:E79.8 {source="Orphanet:46/attributed", source="Orphanet:46/ntbt", source="Orphanet:46"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538235 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} @@ -126590,7 +126998,7 @@ replaced_by: MONDO:0018690 id: MONDO:0007070 name: adiposis dolorosa def: "Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." [Orphanet:36397] -subset: gard_rare {source="GARD:0005750"} +subset: gard_rare {source="GARD:5750"} subset: ordo_disease {source="Orphanet:36397"} synonym: "Adiposalgia" EXACT [Orphanet:36397] synonym: "adipose tissue rheumatism" EXACT [Orphanet:36397] @@ -126601,6 +127009,7 @@ synonym: "lipomatosis dolorosa" EXACT [Orphanet:36397] synonym: "Neurolipomatosis" EXACT [Orphanet:36397] xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"} xref: EFO:1000667 {source="MONDO:equivalentTo"} +xref: GARD:5750 {source="Orphanet:36397"} xref: ICD10CM:E88.2 {source="Orphanet:36397/ntbt", source="Orphanet:36397", source="DOID:3928"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001294 {source="Orphanet:36397/e", source="Orphanet:36397"} @@ -126619,8 +127028,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5750/adiposi [Term] id: MONDO:0007071 name: adrenocortical hypofunction, chronic primary congenital +subset: gard_rare {source="GARD:15033"} synonym: "Addison disease, congenital" RELATED [OMIM:103230] synonym: "adrenocortical hypofunction, chronic primary congenital" EXACT [OMIM:103230] +xref: GARD:15033 {source="OMIM:103230"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562711 {source="MONDO:equivalentTo"} xref: OMIM:103230 {source="MONDO:equivalentTo"} @@ -126636,6 +127047,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007072 name: ADULT syndrome def: "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." [Orphanet:978] +subset: gard_rare {source="GARD:384"} subset: ordo_malformation_syndrome {source="Orphanet:978"} synonym: "acro dermato ungual lacrimal tooth syndrome" RELATED [GARD:0000384] synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [OMIM:103285] @@ -126644,6 +127056,7 @@ synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [Orphanet:978] synonym: "ADULT syndrome" EXACT [OMIM:103285] synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978] xref: DOID:0050601 {source="MONDO:equivalentTo"} +xref: GARD:384 {source="Orphanet:978"} xref: ICD10CM:Q87.2 {source="Orphanet:978", source="Orphanet:978/attributed", source="Orphanet:978/ntbt"} xref: MESH:C538052 {source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: OMIM:103285 {source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} @@ -126673,7 +127086,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007073 name: Hypoglossia-hypodactyly syndrome def: "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." [GARD:0000068, https://orcid.org/0000-0001-5208-3432] -subset: gard_rare +subset: gard_rare {source="GARD:68"} subset: ordo_malformation_syndrome {source="Orphanet:989"} synonym: "aglossia adactylia" RELATED [GARD:0000068] synonym: "aglossia-adactylia" RELATED [OMIM:103300] @@ -126685,6 +127098,7 @@ synonym: "Jussieu syndrome" EXACT [Orphanet:989] synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300] synonym: "peromelia with micrognathia" RELATED [GARD:0000068] synonym: "peromelia with micrognathism" RELATED [OMIM:103300] +xref: GARD:68 {source="Orphanet:989"} xref: ICD10CM:Q87.2 {source="Orphanet:989", source="Orphanet:989/attributed", source="Orphanet:989/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:103300 {source="GARD:0000068", source="MONDO:equivalentTo", source="Orphanet:989", source="Orphanet:989/e"} @@ -126730,9 +127144,11 @@ property_value: IAO:0000589 "ainhum (disease)" xsd:string [Term] id: MONDO:0007075 name: alacrima, congenital, autosomal dominant +subset: gard_rare {source="GARD:18165"} synonym: "alacrima, congenital" RELATED [OMIM:103420] synonym: "alacrimia congenita" RELATED [OMIM:103420] synonym: "alacrimia congenita, autosomal dominant" RELATED [OMIM:103420] +xref: GARD:18165 {source="OMIM:103420"} xref: MESH:C566307 {source="MONDO:equivalentTo"} xref: OMIM:103420 {source="MONDO:equivalentTo"} xref: Orphanet:91416 {source="OMIM:103420"} @@ -126753,7 +127169,7 @@ id: MONDO:0007077 name: Tietz syndrome def: "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." [Orphanet:42665] comment: Editor note: consider classification under albinism -subset: gard_rare {source="GARD:0007772"} +subset: gard_rare {source="GARD:7772"} subset: ordo_malformation_syndrome {source="Orphanet:42665"} synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002] synonym: "hypopigmentation-deafness syndrome" EXACT [Orphanet:42665] @@ -126762,6 +127178,7 @@ synonym: "TADS" RELATED ABBREVIATION [OMIM:103500] synonym: "Tietz albinism-deafness syndrome" EXACT [DOID:0090002, OMIM:103500] synonym: "Tietz syndrome" EXACT [OMIM:103500] xref: DOID:0090002 {source="MONDO:equivalentTo"} +xref: GARD:7772 {source="Orphanet:42665"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536919 {source="Orphanet:42665", source="MONDO:equivalentTo", source="Orphanet:42665/e"} xref: OMIM:103500 {source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002", source="Orphanet:42665/e"} @@ -126779,7 +127196,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7772/tietz-s id: MONDO:0007078 name: pseudohypoparathyroidism type 1A def: "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." [Orphanet:79443] -subset: gard_rare +subset: gard_rare {source="GARD:7486"} subset: ordo_disease {source="Orphanet:79443"} synonym: "AHO" RELATED ABBREVIATION [GARD:0005770] synonym: "AHO-PHP syndrome Ia" EXACT [Orphanet:79443] @@ -126794,6 +127211,7 @@ synonym: "Pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, NCIT:C129721] synonym: "Pseudohypoparathyroidism, type 1A" RELATED [OMIM:103580] synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580] xref: DOID:0080053 {source="MONDO:equivalentTo"} +xref: GARD:7486 {source="Orphanet:79443"} xref: ICD10CM:E20.1 {source="Orphanet:79443/attributed", source="Orphanet:79443/ntbt", source="Orphanet:79443"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537045 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} @@ -126851,7 +127269,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007080 name: glucocorticoid-remediable aldosteronism def: "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:403] -subset: gard_rare {source="GARD:0002790"} +subset: gard_rare {source="GARD:2790"} subset: ordo_disease {source="Orphanet:403"} synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [OMIM:103900] synonym: "aldosteronism, glucocorticoid-remediable" EXACT [OMIM:103900, OMIM:genemap2] @@ -126873,6 +127291,7 @@ synonym: "hyperaldosteronism, familial type 1" RELATED [GARD:0002790] synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900] synonym: "hyperaldosteronism, familial, type I" RELATED [OMIM:103900] xref: DOID:14080 {source="MONDO:equivalentTo"} +xref: GARD:2790 {source="Orphanet:403"} xref: ICD10CM:E26.0 {source="Orphanet:403", source="Orphanet:403/attributed", source="Orphanet:403/ntbt"} xref: ICD10CM:E26.02 {source="DOID:14080", source="MONDO:equivalentTo"} xref: ICD9:255.11 {source="DOID:14080"} @@ -126898,9 +127317,11 @@ replaced_by: MONDO:0015243 [Term] id: MONDO:0007082 name: alopecia areata 1 +subset: gard_rare {source="GARD:15035"} synonym: "AA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104000] synonym: "alopecia areata 1" EXACT [MONDO:Lexical, OMIM:104000] synonym: "alopecia universalis" RELATED [OMIM:104000] +xref: GARD:15035 {source="OMIM:104000"} xref: MESH:C566303 {source="MONDO:equivalentTo"} xref: OMIM:104000 {source="MONDO:equivalentTo"} xref: Orphanet:700 {source="MONDO:relatedTo", source="OMIM:104000"} @@ -126915,7 +127336,7 @@ property_value: confidence "1.1064814814814814" xsd:double id: MONDO:0007083 name: autosomal dominant palmoplantar keratoderma and congenital alopecia def: "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." [Orphanet:1010] -subset: gard_rare {source="GARD:0000604"} +subset: gard_rare {source="GARD:604"} subset: ordo_disease {source="Orphanet:1010"} synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [GARD:0000604] synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1010] @@ -126928,6 +127349,7 @@ synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010] synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100] synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100] xref: DOID:0111244 {source="MONDO:equivalentTo"} +xref: GARD:604 {source="Orphanet:1010"} xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="Orphanet:1010/attributed", source="Orphanet:1010/ntbt"} xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="Orphanet:1010/e"} xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"} @@ -126956,11 +127378,13 @@ is_a: MONDO:0004907 {source="MESH:C566301", source="MONDO:Redundant", source="MO id: MONDO:0007085 name: alopecia-epilepsy-pyorrhea-intellectual disability syndrome def: "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." [Orphanet:1008] +subset: gard_rare {source="GARD:607"} subset: ordo_disease {source="Orphanet:1008"} synonym: "alopecia, epilepsy, pyorrhea, mental subnormality" RELATED [GARD:0000607] synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [OMIM:104130] synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607] synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008] +xref: GARD:607 {source="Orphanet:1008"} xref: ICD10CM:Q87.8 {source="Orphanet:1008", source="Orphanet:1008/attributed", source="Orphanet:1008/ntbt"} xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} @@ -126981,13 +127405,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007086 name: autosomal dominant Alport syndrome def: "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." [https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome] -subset: gard_rare {source="GARD:0000624"} +subset: gard_rare {source="GARD:624"} subset: ordo_etiological_subtype {source="Orphanet:88918"} synonym: "Alport syndrome 3, autosomal dominant" EXACT [OMIM:104200, OMIM:genemap2] synonym: "Alport syndrome dominant type" RELATED [GARD:0000624] synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:104200] synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624] xref: DOID:0110032 {source="MONDO:equivalentTo"} +xref: GARD:624 {source="Orphanet:88918"} xref: ICD10CM:Q87.8 {source="Orphanet:88918/attributed", source="Orphanet:88918/ntbt", source="Orphanet:88918"} xref: MESH:C536586 {source="Orphanet:88918/e", source="Orphanet:88918"} xref: OMIM:104200 {source="Orphanet:88918/e", source="MONDO:equivalentTo", source="DOID:0110032", source="Orphanet:88918"} @@ -127010,11 +127435,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/624/autosoma id: MONDO:0007087 name: alternating hemiplegia of childhood 1 def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15036"} synonym: "AHC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104290] synonym: "alternating hemiplegia of childhood 1" EXACT [MONDO:Lexical, OMIM:104290] synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1, OMIM:104290] synonym: "ATP1A2 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15036 {source="OMIM:104290"} xref: OMIM:104290 {source="MONDO:equivalentTo"} xref: Orphanet:2131 {source="OMIM:104290"} xref: UMLS:C3549447 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:104290"} @@ -127027,7 +127454,7 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0007088 name: Alzheimer disease type 1 -subset: gard_rare {source="GARD:0009465"} +subset: gard_rare {source="GARD:9465"} synonym: "AD" RELATED ABBREVIATION [OMIM:104300] synonym: "AD1" RELATED ABBREVIATION [GARD:0009465] synonym: "Alzheimer disease" RELATED [OMIM:104300] @@ -127042,6 +127469,7 @@ synonym: "early-onset familial form of Alzheimer disease" BROAD [GARD:0009465] synonym: "presenile and senile dementia" RELATED [OMIM:104300] xref: DECIPHER:48 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:relatedTo"} xref: DOID:0080348 {source="MONDO:equivalentTo"} +xref: GARD:9465 {source="OMIM:104300"} xref: MESH:C536594 {source="MONDO:equivalentTo"} xref: OMIM:104300 {source="MONDO:equivalentTo", source="DOID:0080348"} xref: Orphanet:1020 {source="OMIM:104300"} @@ -127064,6 +127492,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9465/alzheim id: MONDO:0007089 name: Alzheimer disease 2 def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." [DOID:0110035, PMID:8346443] +subset: gard_rare {source="GARD:12799"} synonym: "AD2" EXACT ABBREVIATION [DOID:0110035, OMIM:104310] synonym: "Alzheimer disease 2" EXACT [OMIM:104310] synonym: "Alzheimer disease 2, late onset" EXACT [DOID:0110035] @@ -127079,6 +127508,7 @@ synonym: "late onset familial Alzheimer disease" EXACT [GARD:0009467] synonym: "late-onset familial alzheimer disease" EXACT [MONDO:0100088] synonym: "LOFAD" RELATED ABBREVIATION [GARD:0009467] xref: DOID:0110035 {source="MONDO:equivalentTo"} +xref: GARD:12799 {source="OMIM:104310"} xref: ICD10CM:G30 {source="DOID:0110035"} xref: MESH:C536595 {source="MONDO:equivalentTo"} xref: OMIM:104310 {source="MONDO:equivalentTo", source="DOID:0110035"} @@ -127115,6 +127545,7 @@ relationship: disease_has_feature HP:0009827 ! Amelia id: MONDO:0007092 name: amelogenesis imperfecta type 1B def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15037"} synonym: "AI1B" EXACT ABBREVIATION [DOID:0110052, MONDO:Lexical, OMIM:104500] synonym: "AIH2" RELATED ABBREVIATION [DOID:0110052, OMIM:104500] synonym: "amelogenesis imperfecta caused by mutation in ENAM" EXACT [] @@ -127131,6 +127562,7 @@ synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500] synonym: "hereditary localised enamel hypoplasia" EXACT OMO:0003005 [] synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052] xref: DOID:0110052 {source="MONDO:equivalentTo"} +xref: GARD:15037 {source="OMIM:104500"} xref: ICD10CM:K00.5 {source="DOID:0110052"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562879 {source="MONDO:equivalentTo"} @@ -127151,6 +127583,7 @@ property_value: confidence "1.2580117077907054" xsd:double id: MONDO:0007093 name: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16932"} subset: ordo_clinical_subtype {source="Orphanet:100034"} synonym: "AI4" EXACT ABBREVIATION [DOID:0110053, MONDO:Lexical, OMIM:104510] synonym: "AIHHT" EXACT ABBREVIATION [DOID:0110053] @@ -127162,6 +127595,7 @@ synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510] synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110053 {source="MONDO:equivalentTo"} +xref: GARD:16932 {source="Orphanet:100034"} xref: ICD10CM:K00.5 {source="Orphanet:100034/attributed", source="Orphanet:100034/ntbt", source="Orphanet:100034", source="DOID:0110053"} xref: MESH:C566293 {source="MONDO:equivalentTo"} xref: OMIM:104510 {source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053", source="Orphanet:100034/e"} @@ -127180,7 +127614,7 @@ id: MONDO:0007094 name: amelogenesis imperfecta type 1A def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series. {source="OMIM:104530"} -subset: gard_rare +subset: gard_rare {source="GARD:15038"} synonym: "AI1A" EXACT ABBREVIATION [DOID:0110054, MONDO:Lexical, OMIM:104530] synonym: "amelogenesis imperfecta caused by mutation in LAMB3" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [DOID:0110054] @@ -127192,6 +127626,7 @@ synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical, OMIM:104530] synonym: "LAMB3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "local hypoplastic amelogenesis imperfecta" RELATED [GARD:0000645] xref: DOID:0110054 {source="MONDO:equivalentTo"} +xref: GARD:15038 {source="OMIM:104530"} xref: ICD10CM:K00.5 {source="DOID:0110054"} xref: MESH:C538240 {source="MONDO:equivalentTo"} xref: OMIM:104530 {source="MONDO:equivalentTo", source="GARD:0000645", source="DOID:0110054"} @@ -127209,11 +127644,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/645/amelogen [Term] id: MONDO:0007095 name: ameloonychohypohidrotic syndrome -subset: gard_rare {source="GARD:0000647"} +subset: gard_rare {source="GARD:647"} subset: ordo_malformation_syndrome {source="Orphanet:1028"} synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN-13:978-88-470-0687-4] synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570] synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647] +xref: GARD:647 {source="Orphanet:1028"} xref: ICD10CM:Q82.4 {source="Orphanet:1028", source="Orphanet:1028/attributed", source="Orphanet:1028/ntbt"} xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} @@ -127238,6 +127674,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007097 name: Finnish type amyloidosis +subset: gard_rare {source="GARD:2339"} subset: ordo_disease {source="Orphanet:85448"} synonym: "AGel amyloidosis" RELATED [Orphanet:85448] synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [OMIM:105120] @@ -127259,6 +127696,7 @@ synonym: "lattice corneal dystrophy, type 2" RELATED [OMIM:105120] synonym: "meretoja syndrome" EXACT [] synonym: "meretoja type amyloidosis" RELATED [] xref: DOID:0050637 {source="MONDO:equivalentTo"} +xref: GARD:2339 {source="Orphanet:85448"} xref: ICD10CM:E85.1 {source="Orphanet:85448", source="Orphanet:85448/attributed", source="Orphanet:85448/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537459 {source="MONDO:equivalentTo"} @@ -127282,6 +127720,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007098 name: ACys amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." [Orphanet:100008] +subset: gard_rare {source="GARD:16930"} subset: ordo_clinical_subtype {source="Orphanet:100008"} synonym: "amyloidosis 6" RELATED [OMIM:105150] synonym: "amyloidosis VI" EXACT [DOID:0070027] @@ -127300,6 +127739,7 @@ synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008] xref: DOID:0070027 {source="MONDO:equivalentTo"} +xref: GARD:16930 {source="Orphanet:100008"} xref: ICD10EXP:E85.4+ {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -127318,7 +127758,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007099 name: familial visceral amyloidosis -subset: gard_rare {source="GARD:0008282"} +subset: gard_rare {source="GARD:8282"} subset: ordo_disease {source="Orphanet:85450"} synonym: "amyloidosis 8" RELATED [OMIM:105200] synonym: "amyloidosis familial renal" RELATED [GARD:0008282] @@ -127340,6 +127780,7 @@ synonym: "hereditary renal amyloidosis" EXACT [Orphanet:85450] synonym: "Ostertag type amyloidosis" EXACT [DOID:0050636, OMIM:105200] synonym: "systemic nonneuropathic amyloidosis" EXACT [DOID:0050636] xref: DOID:0050636 {source="MONDO:equivalentTo"} +xref: GARD:8282 {source="Orphanet:85450"} xref: ICD10CM:E85.0 {source="Orphanet:85450/ntbt", source="Orphanet:85450/inclusion", source="Orphanet:85450"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538249 {source="MONDO:equivalentTo"} @@ -127361,6 +127802,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8282/amyloid id: MONDO:0007100 name: familial amyloid neuropathy def: "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." [Orphanet:85447] +subset: gard_rare {source="GARD:16754"} subset: ordo_disease {source="Orphanet:85447"} synonym: "amyloid cardiomyopathy, transthyretin-related" RELATED [OMIM:105210] synonym: "amyloid Neuropathies, familial" EXACT [NCIT:C84554] @@ -127388,6 +127830,7 @@ synonym: "TTR amyloidosis" EXACT [DOID:0050638] xref: DOID:0050638 {source="MONDO:equivalentTo"} xref: DOID:0050761 {source="MONDO:equivalentObsolete"} xref: EFO:0004129 {source="MONDO:equivalentTo"} +xref: GARD:16754 {source="Orphanet:85447"} xref: ICD10EXP:E85.1+ {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/ntbt"} xref: ICD10EXP:G63.3* {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/e"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -127409,11 +127852,13 @@ property_value: confidence "0.5" xsd:double [Term] id: MONDO:0007101 name: familial primary localized cutaneous amyloidosis +subset: gard_rare {source="GARD:17533"} subset: ordo_disease {source="Orphanet:353220"} synonym: "FPLCA" EXACT ABBREVIATION [Orphanet:353220] synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary] synonym: "primary localised cutaneous amyloidosis" RELATED OMO:0003005 [] synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132] +xref: GARD:17533 {source="Orphanet:353220"} xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: MESH:C562643 {source="MONDO:equivalentTo"} @@ -127472,6 +127917,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007104 name: amyotrophic lateral sclerosis-parkinsonism-dementia complex +subset: gard_rare {source="GARD:9239"} subset: ordo_disease {source="Orphanet:90020"} synonym: "ALS-pDC" RELATED [OMIM:105500] synonym: "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam" RELATED [GARD:0009239] @@ -127486,6 +127932,7 @@ synonym: "Lytigo-Bodig disease" EXACT [https://doi.org/10.1016/S0140-6736(00)026 synonym: "Parkinsonism-dementia-ALS complex" EXACT [Orphanet:90020] synonym: "PDALS" EXACT ABBREVIATION [Orphanet:90020] xref: DOID:0111246 {source="MONDO:equivalentTo"} +xref: GARD:9239 {source="Orphanet:90020"} xref: ICD10CM:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="Orphanet:90020/ntbt"} xref: OMIM:105500 {source="Orphanet:90020", source="MONDO:equivalentTo", source="Orphanet:90020/e"} xref: Orphanet:90020 {source="MONDO:equivalentTo", source="OMIM:105500"} @@ -127502,6 +127949,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007105 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1 def: "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18396"} synonym: "ALSFTD" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550] synonym: "C9ORF72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern] @@ -127515,6 +127963,7 @@ synonym: "frontotemporal dementia with motor neuron disease caused by mutation i synonym: "FTDALS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105550] synonym: "FTDMND" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] xref: DOID:0060213 {source="MONDO:equivalentTo"} +xref: GARD:18396 {source="OMIM:105550"} xref: NCIT:C168756 {source="MONDO:equivalentTo"} xref: OMIM:105550 {source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="OMIM:105550"} @@ -127531,7 +127980,6 @@ property_value: confidence "0.028571428571429136" xsd:double [Term] id: MONDO:0007106 name: anal sphincter dysplasia -subset: gard_rare {source="GARD:0009822"} synonym: "anal sphincter dysplasia" EXACT [MONDO:Lexical, OMIM:105563] synonym: "ASDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105563] xref: MESH:C538254 {source="MONDO:equivalentTo"} @@ -127555,6 +128003,7 @@ id: MONDO:0007108 name: anal canal carcinoma def: "A carcinoma that arises from epithelial cells of the anal canal" [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping +subset: gard_rare {source="GARD:21772"} subset: ordo_group_of_disorders {source="Orphanet:424013"} synonym: "anal canal and perianal gland cancer" EXACT [NCIT:C7489] synonym: "anal canal and perianal gland carcinoma" EXACT [DOID:6126, NCIT:C7489] @@ -127564,6 +128013,7 @@ synonym: "carcinoma of anal canal" EXACT [DOID:6126, MONDO:patterns/carcinoma] synonym: "carcinoma of the anal canal" EXACT [MONDO:0018517] synonym: "cloacogenic carcinoma" RELATED [OMIM:105580] xref: DOID:6126 {source="MONDO:equivalentTo"} +xref: GARD:21772 {source="Orphanet:424013"} xref: MESH:C563020 {source="DOID:6126", source="MONDO:relatedTo"} xref: NCIT:C7489 {source="DOID:6126", source="MONDO:equivalentTo"} xref: OMIM:105580 {source="DOID:6126", source="MONDO:equivalentTo"} @@ -127582,6 +128032,7 @@ property_value: confidence "1.6750000000000003" xsd:double id: MONDO:0007109 name: congenital dyserythropoietic anemia type 3 def: "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." [Orphanet:98870] +subset: gard_rare {source="GARD:2002"} subset: ordo_disease {source="Orphanet:98870"} synonym: "anaemia with multinucleated erythroblasts" RELATED OMO:0003005 [] synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600] @@ -127597,6 +128048,7 @@ synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [OMIM:105600] synonym: "dyserythropoietic anemia, congenital, type III" EXACT [OMIM:105600, OMIM:genemap2] synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600] xref: DOID:0111399 {source="MONDO:equivalentTo"} +xref: GARD:2002 {source="Orphanet:98870"} xref: ICD10CM:D64.4 {source="Orphanet:98870/attributed", source="Orphanet:98870/ntbt", source="Orphanet:98870"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:105600 {source="Orphanet:98870/e", source="MONDO:equivalentTo", source="Orphanet:98870"} @@ -127615,6 +128067,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007110 name: Diamond-Blackfan anemia 1 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15039"} synonym: "Aase syndrome" RELATED [OMIM:105650] synonym: "Aase-Smith syndrome 2" RELATED [OMIM:105650] synonym: "anemia, congenital erythroid hypoplastic" RELATED [OMIM:105650] @@ -127633,6 +128086,7 @@ synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650] synonym: "RPS19 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111895 {source="MONDO:equivalentTo"} +xref: GARD:15039 {source="OMIM:105650"} xref: MESH:C567302 {source="MONDO:equivalentTo"} xref: NCIT:C176911 {source="MONDO:equivalentTo"} xref: OMIM:105650 {source="MONDO:equivalentTo"} @@ -127646,10 +128100,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007111 name: aneurysm, intracranial berry type 1 +subset: gard_rare {source="GARD:18320"} synonym: "aneurysm, intracranial berry, 1" RELATED [MONDO:Lexical, OMIM:105800] synonym: "aneurysmal subarachnoid hemorrhage, familial" RELATED [OMIM:105800] synonym: "ANIB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105800] xref: DOID:0080964 {source="MONDO:equivalentTo"} +xref: GARD:18320 {source="OMIM:105800"} xref: MESH:C566284 {source="MONDO:equivalentTo"} xref: OMIM:105800 {source="MONDO:equivalentTo"} xref: UMLS:C1862932 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:105800"} @@ -127660,8 +128116,10 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0007112 name: interventricular septum aneurysm def: "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." [Orphanet:99092] +subset: gard_rare {source="GARD:16895"} subset: ordo_morphological_anomaly {source="Orphanet:99092"} synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805] +xref: GARD:16895 {source="Orphanet:99092"} xref: ICD10CM:Q21.0 {source="Orphanet:99092/attributed", source="Orphanet:99092/ntbt", source="Orphanet:99092"} xref: MESH:C563239 {source="MONDO:equivalentTo"} xref: OMIM:105805 {source="Orphanet:99092", source="MONDO:equivalentTo", source="Orphanet:99092/e"} @@ -127678,6 +128136,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007113 name: Angelman syndrome def: "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." [https://orcid.org/0000-0001-5208-3432, Orphanet:72] +subset: gard_rare {source="GARD:5810"} subset: ordo_malformation_syndrome {source="Orphanet:72"} synonym: "Angelman syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:105830] synonym: "Angelman syndrome (Type 1)" NARROW [DECIPHER:4] @@ -127691,6 +128150,7 @@ synonym: "puppetlike syndrome" EXACT DEPRECATED [DOID:1932] xref: DECIPHER:4 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DECIPHER:54 {source="MONDO:equivalentTo"} xref: DOID:1932 {source="MONDO:equivalentTo"} +xref: GARD:5810 {source="Orphanet:72"} xref: ICD10CM:Q93.5 {source="Orphanet:72/ntbt", source="DOID:1932", source="Orphanet:72/inclusion", source="Orphanet:72"} xref: ICD10CM:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -127718,10 +128178,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007114 name: Angel-shaped phalango-epiphyseal dysplasia def: "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." [https://orcid.org/0000-0001-5208-3432, Orphanet:63442] +subset: gard_rare {source="GARD:671"} subset: ordo_malformation_syndrome {source="Orphanet:63442"} synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671] synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:105835] synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442] +xref: GARD:671 {source="Orphanet:63442"} xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="Orphanet:63442/attributed", source="Orphanet:63442/ntbt"} xref: MedDRA:10066017 {source="Orphanet:63442", source="Orphanet:63442/e"} xref: MESH:C536361 {source="MONDO:equivalentTo"} @@ -127736,9 +128198,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007115 name: angioma serpiginosum, autosomal dominant -subset: gard_rare {source="GARD:0010189"} +subset: gard_rare {source="GARD:10189"} synonym: "angioma serpiginosum, autosomal dominant" EXACT [OMIM:106050] synonym: "autosomal dominant angioma serpiginosum" RELATED [GARD:0010189] +xref: GARD:10189 {source="OMIM:106050"} xref: MESH:C536365 {source="MONDO:equivalentTo"} xref: OMIM:106050 {source="MONDO:equivalentTo"} xref: Orphanet:95429 {source="OMIM:106050"} @@ -127751,6 +128214,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10189/angiom id: MONDO:0007116 name: hereditary neurocutaneous angioma def: "Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant." [Orphanet:1062] +subset: gard_rare {source="GARD:676"} subset: ordo_disease {source="Orphanet:1062"} synonym: "angioma hereditary neurocutaneous" RELATED [GARD:0000676] synonym: "angioma, hereditary neurocutaneous" RELATED [OMIM:106070] @@ -127758,6 +128222,7 @@ synonym: "hemangiomatosis, disseminated" RELATED [OMIM:106070] synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676] synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062] synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070] +xref: GARD:676 {source="Orphanet:1062"} xref: ICD10CM:D18.0 {source="Orphanet:1062/attributed", source="Orphanet:1062/ntbt", source="Orphanet:1062"} xref: MESH:C536364 {source="Orphanet:1062/e", source="Orphanet:1062"} xref: OMIM:106070 {source="Orphanet:1062/e", source="MONDO:equivalentTo", source="Orphanet:1062"} @@ -127782,6 +128247,7 @@ replaced_by: MONDO:0033946 id: MONDO:0007118 name: isolated anhidrosis with normal sweat glands def: "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17843"} subset: ordo_disease {source="Orphanet:468666"} synonym: "ANHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106190] synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern] @@ -127791,6 +128257,7 @@ synonym: "isolated generalised anhidrosis with normal sweat glands" RELATED OMO: synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666] synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060603 {source="MONDO:equivalentTo"} +xref: GARD:17843 {source="Orphanet:468666"} xref: OMIM:106190 {source="Orphanet:468666", source="MONDO:equivalentTo", source="DOID:0060603"} xref: Orphanet:468666 {source="MONDO:equivalentTo"} xref: UMLS:C1862871 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:106190"} @@ -127808,10 +128275,12 @@ property_value: confidence "0.9166666666666665" xsd:double id: MONDO:0007119 name: isolated aniridia def: "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." [Orphanet:250923] +subset: gard_rare {source="GARD:5816"} subset: ordo_morphological_anomaly {source="Orphanet:250923"} subset: prototype_pattern synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK1360/] synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated] +xref: GARD:5816 {source="Orphanet:250923"} xref: ICD10CM:Q13.1 {source="Orphanet:250923/attributed", source="Orphanet:250923/ntbt", source="Orphanet:250923"} xref: OMIMPS:106210 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"} @@ -127826,11 +128295,12 @@ property_value: confidence "3.4285714285714297" xsd:double id: MONDO:0007120 name: aniridia-absent patella syndrome def: "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." [Orphanet:1069] -subset: gard_rare +subset: gard_rare {source="GARD:685"} subset: ordo_malformation_syndrome {source="Orphanet:1069"} synonym: "aniridia absent patella" RELATED [GARD:0000685] synonym: "aniridia and absent patella" RELATED [OMIM:106220] synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685] +xref: GARD:685 {source="Orphanet:1069"} xref: ICD10CM:Q87.8 {source="Orphanet:1069/attributed", source="Orphanet:1069/ntbt", source="Orphanet:1069"} xref: MESH:C566281 {source="MONDO:equivalentTo"} xref: OMIM:106220 {source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo", source="Orphanet:1069/e"} @@ -127871,6 +128341,7 @@ property_value: IAO:0000589 "anisocoria (disease)" xsd:string [Term] id: MONDO:0007123 name: ankyloblepharon filiforme adnatum-cleft palate syndrome +subset: gard_rare {source="GARD:696"} subset: ordo_malformation_syndrome {source="Orphanet:1072"} synonym: "AFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106250] synonym: "ankyloblepharon filiforme adnatum" EXACT [Orphanet:1072] @@ -127878,6 +128349,7 @@ synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lex synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696] synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696] synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696] +xref: GARD:696 {source="Orphanet:1072"} xref: ICD10CM:Q87.0 {source="Orphanet:1072/attributed", source="Orphanet:1072/ntbt", source="Orphanet:1072"} xref: MESH:C536373 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} xref: OMIM:106250 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} @@ -127893,7 +128365,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007124 name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome def: "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." [https://orcid.org/0000-0001-5208-3432, Orphanet:1071] -subset: gard_rare +subset: gard_rare {source="GARD:6571"} subset: ordo_malformation_syndrome {source="Orphanet:1071"} synonym: "AEC syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Ankyloblepharon ectodermal defects cleft lip/palate" RELATED [GARD:0006571] @@ -127904,6 +128376,7 @@ synonym: "Hay-Wells syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Rapp-Hodgkins syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome, MONDO:cjm] synonym: "Seres-Santamaria Arimany Muniz syndrome" RELATED [GARD:0004805] xref: DOID:0090119 {source="MONDO:equivalentTo"} +xref: GARD:6571 {source="Orphanet:1071"} xref: ICD10CM:Q82.4 {source="Orphanet:1071", source="Orphanet:1071/attributed", source="Orphanet:1071/ntbt", source="DOID:0090119"} xref: MESH:C535289 {source="Orphanet:1071/e", source="Orphanet:1071", source="DOID:0090119"} xref: MESH:C535847 {source="MONDO:equivalentTo"} @@ -127974,6 +128447,7 @@ relationship: predisposes_towards MONDO:0005095 ! spondyloarthropathy id: MONDO:0007127 name: diffuse idiopathic skeletal hyperostosis def: "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." [Orphanet:2206] +subset: gard_rare {source="GARD:842"} subset: ordo_malformation_syndrome {source="Orphanet:2206"} synonym: "ankylosing vertebral hyperostosis" EXACT [DOID:6652, ICD9CM:721.6] synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [OMIM:106400] @@ -127984,6 +128458,7 @@ synonym: "Forestier disease" RELATED [DOID:6652] synonym: "Forestier's disease" EXACT [NCIT:C84671] xref: DOID:6652 {source="EFO:0007236", source="MONDO:equivalentTo"} xref: EFO:0007236 {source="MONDO:equivalentTo"} +xref: GARD:842 {source="Orphanet:2206"} xref: ICD10CM:M48.1 {source="DOID:6652", source="Orphanet:2206", source="Orphanet:2206/attributed", source="Orphanet:2206/ntbt"} xref: ICD9:721.6 {source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -128016,6 +128491,7 @@ is_a: MONDO:0003847 {source="MESH:C562461/inferred"} ! hereditary disease id: MONDO:0007129 name: tooth agenesis, selective, 1 def: "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18244"} synonym: "hypodontia/oligodontia 1" RELATED [OMIM:106600] synonym: "hypodontia/oligodontia with orofacial cleft" RELATED [OMIM:106600] synonym: "MSX1 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -128027,6 +128503,7 @@ synonym: "tooth agenesis, selective, 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, synonym: "tooth agenesis, selective, 1, with or without orofacial cleft" EXACT [OMIM:106600, OMIM:genemap2] synonym: "tooth agenesis, selective, type 1" EXACT [MONDORULE:1, OMIM:106600] synonym: "tooth agenesis, selective, with orofacial cleft" RELATED [OMIM:106600] +xref: GARD:18244 {source="OMIM:106600"} xref: OMIM:106600 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:106600"} xref: Orphanet:99798 {source="OMIM:106600"} @@ -128045,6 +128522,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007130 name: congenital total pulmonary venous return anomaly def: "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." [Orphanet:99125] +subset: gard_rare {source="GARD:16896"} subset: ordo_morphological_anomaly {source="Orphanet:99125"} synonym: "anomalous pulmonary Venous return" RELATED [OMIM:106700] synonym: "pulmonary venolobar syndrome" EXACT [DOID:4297] @@ -128056,6 +128534,7 @@ synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297] synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical, OMIM:106700] xref: DOID:4297 {source="EFO:1001167", source="MONDO:equivalentTo"} xref: EFO:1001167 {source="MONDO:equivalentTo"} +xref: GARD:16896 {source="Orphanet:99125"} xref: ICD10CM:Q26.2 {source="Orphanet:99125", source="Orphanet:99125/e", source="DOID:4297"} xref: ICD10CM:Q26.8 {source="DOID:4297"} xref: ICD9:747.41 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4297"} @@ -128079,8 +128558,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007131 name: anonychia with flexural pigmentation def: "Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." [Orphanet:69125] +subset: gard_rare {source="GARD:16682"} subset: ordo_malformation_syndrome {source="Orphanet:69125"} synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750] +xref: GARD:16682 {source="Orphanet:69125"} xref: MESH:C566278 {source="MONDO:equivalentTo"} xref: OMIM:106750 {source="Orphanet:69125/e", source="MONDO:equivalentTo", source="Orphanet:69125"} xref: Orphanet:69125 {source="OMIM:106750", source="MONDO:equivalentTo"} @@ -128091,7 +128572,6 @@ property_value: confidence "8.375" xsd:double [Term] id: MONDO:0007132 name: anonychia-ectrodactyly -subset: gard_rare {source="GARD:0000708"} synonym: "anonychia ectrodactyly" RELATED [GARD:0000708] synonym: "anonychia-ectrodactyly" EXACT [OMIM:106900] xref: MESH:C566277 {source="MONDO:equivalentTo"} @@ -128103,7 +128583,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/708/anonychi [Term] id: MONDO:0007133 name: anonychia-onychodystrophy with brachydactyly type b and ectrodactyly -subset: gard_rare {source="GARD:0000711"} synonym: "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" EXACT [OMIM:106990] synonym: "autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly" RELATED [GARD:0000711] synonym: "Kumar-Levick syndrome" EXACT [Orphanet:2355] @@ -128118,12 +128597,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/711/anonychi id: MONDO:0007134 name: Cooks syndrome def: "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." [Orphanet:1487] +subset: gard_rare {source="GARD:4083"} subset: ordo_malformation_syndrome {source="Orphanet:1487"} synonym: "anonychia and absence/hypoplasia of distal phalanges" RELATED [GARD:0004083] synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [OMIM:106995] synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" EXACT [Orphanet:1487] synonym: "Cooks syndrome" EXACT CLINGEN_PREFERRED [OMIM:106995] synonym: "ODP" EXACT ABBREVIATION [Orphanet:1487] +xref: GARD:4083 {source="Orphanet:1487"} xref: ICD10CM:Q84.6 {source="Orphanet:1487/attributed", source="Orphanet:1487/ntbt", source="Orphanet:1487"} xref: MESH:C537766 {source="MONDO:equivalentTo"} xref: OMIM:106995 {source="Orphanet:1487", source="MONDO:equivalentTo", source="Orphanet:1487/e"} @@ -128143,6 +128624,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007135 name: nonsyndromic congenital nail disorder 6 +subset: gard_rare {source="GARD:15040"} synonym: "absent nails and dystrophic nails" RELATED [GARD:0000710] synonym: "anonychia, partial" RELATED [OMIM:107000] synonym: "anonychia/hyponychia and onychodystrophy" RELATED [OMIM:107000] @@ -128151,6 +128633,7 @@ synonym: "NDNC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107000] synonym: "nonsyndromic congenital nail disorder type 6" EXACT [DOID:0080084, MONDORULE:1] synonym: "onychodystrophy-anonychia" RELATED [GARD:0000710] xref: DOID:0080084 {source="MONDO:equivalentTo"} +xref: GARD:15040 {source="OMIM:107000"} xref: OMIM:107000 {source="MONDO:equivalentTo", source="DOID:0080084"} xref: Orphanet:79143 {source="OMIM:107000"} xref: Orphanet:90390 {source="MONDO:directSiblingOf", source="OMIM:107000"} @@ -128181,11 +128664,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007137 name: isolated congenital anosmia def: "This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." [Orphanet:88620] +subset: gard_rare {source="GARD:9486"} subset: ordo_disease {source="Orphanet:88620"} synonym: "ANIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107200] synonym: "anosmia, congenital" RELATED [OMIM:107200] synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200] synonym: "congenital anosmia" RELATED [GARD:0009486] +xref: GARD:9486 {source="Orphanet:88620"} xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="Orphanet:88620/attributed", source="Orphanet:88620/ntbt"} xref: MESH:C535983 {source="MONDO:equivalentTo"} xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="Orphanet:88620/e"} @@ -128254,7 +128739,7 @@ is_obsolete: true id: MONDO:0007142 name: Townes-Brocks syndrome def: "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." [Orphanet:857] -subset: gard_rare {source="GARD:0007784"} +subset: gard_rare {source="GARD:7784"} subset: ordo_malformation_syndrome {source="Orphanet:857"} subset: prototype_pattern synonym: "anus, imperforate, with hand, foot and ear anomalies" RELATED [GARD:0007784] @@ -128273,6 +128758,7 @@ synonym: "Townes-Brocks syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:1 synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480] synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] xref: DOID:0050887 {source="MONDO:equivalentTo"} +xref: GARD:7784 {source="Orphanet:857"} xref: ICD10CM:Q87.8 {source="Orphanet:857", source="Orphanet:857/attributed", source="Orphanet:857/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536974 {source="MONDO:equivalentTo", source="Orphanet:857", source="Orphanet:857/e"} @@ -128297,12 +128783,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7784/townes- id: MONDO:0007143 name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome def: "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." [Orphanet:1110] +subset: gard_rare {source="GARD:739"} subset: ordo_malformation_syndrome {source="Orphanet:1110"} synonym: "aortic arch anomaly - peculiar facies - intellectual disability" RELATED [GARD:0000739] synonym: "aortic arch anomaly with peculiar facies and intellectual disability" RELATED [OMIM:107500] synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED DEPRECATED [OMIM:107500] synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739] synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739] +xref: GARD:739 {source="Orphanet:1110"} xref: ICD10CM:Q87.8 {source="Orphanet:1110", source="Orphanet:1110/attributed", source="Orphanet:1110/ntbt"} xref: MESH:C537785 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} xref: OMIM:107500 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} @@ -128327,7 +128815,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007145 name: aplasia cutis congenita def: "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." [Orphanet:1114] -subset: gard_rare +subset: gard_rare {source="GARD:5835"} subset: ordo_malformation_syndrome {source="Orphanet:1114"} synonym: "ACC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107600] synonym: "aplasia cutis congenita" EXACT [MONDO:ambiguous] @@ -128339,6 +128827,7 @@ synonym: "congenital defect of skull and scalp" RELATED [OMIM:107600] synonym: "scalp defect congenital" RELATED [GARD:0005835] synonym: "scalp defect, congenital" RELATED [OMIM:107600] xref: DOID:0080661 {source="MONDO:equivalentTo"} +xref: GARD:5835 {source="Orphanet:1114"} xref: HP:0001057 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.8 {source="Orphanet:1114/attributed", source="Orphanet:1114/ntbt", source="Orphanet:1114"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -128506,6 +128995,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007154 name: arteriovenous malformations of the brain def: "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." [Orphanet:46724] +subset: gard_rare {source="GARD:3020"} subset: ordo_morphological_anomaly {source="Orphanet:46724"} synonym: "arteriovenous malformation of the brain, somatic" EXACT [OMIM:108010, OMIM:genemap2] synonym: "arteriovenous malformations of the brain" EXACT [OMIM:108010] @@ -128519,6 +129009,7 @@ synonym: "intracranial haemorrhage in brain cerebrovascular malformations, susce synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010] synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2] xref: DOID:0060688 {source="MONDO:equivalentTo"} +xref: GARD:3020 {source="Orphanet:46724"} xref: ICD10CM:Q28.2 {source="Orphanet:46724", source="Orphanet:46724/attributed", source="Orphanet:46724/ntbt", source="DOID:0060688"} xref: MESH:D002538 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: NCIT:C2936 {source="MONDO:equivalentTo"} @@ -128579,7 +129070,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007158 name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome def: "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." [Orphanet:1154] -subset: gard_rare +subset: gard_rare {source="GARD:4047"} subset: ordo_malformation_syndrome {source="Orphanet:1154"} synonym: "Arthogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047] synonym: "arthrogryposis ophthalmoplegia retinopathy" RELATED [GARD:0004047] @@ -128594,6 +129085,7 @@ synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154] synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] xref: DOID:0111608 {source="MONDO:equivalentTo"} +xref: GARD:4047 {source="Orphanet:1154"} xref: ICD10CM:Q68.8 {source="Orphanet:1154", source="Orphanet:1154/attributed", source="Orphanet:1154/ntbt"} xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="MONDO:equivalentTo", source="Orphanet:1154/e"} xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"} @@ -128608,6 +129100,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4047/distal- id: MONDO:0007159 name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome def: "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." [Orphanet:1144] +subset: gard_rare {source="GARD:784"} subset: ordo_malformation_syndrome {source="Orphanet:1144"} synonym: "arthrogryposis and sensorineural deafness" RELATED [OMIM:108200] synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical, OMIM:108200] @@ -128616,6 +129109,7 @@ synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108200] synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144] synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784] xref: DOID:0111609 {source="MONDO:equivalentTo"} +xref: GARD:784 {source="Orphanet:1144"} xref: ICD10CM:Q68.8 {source="Orphanet:1144/attributed", source="Orphanet:1144/ntbt", source="Orphanet:1144"} xref: MESH:C535386 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} xref: OMIM:108200 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} @@ -128628,6 +129122,7 @@ property_value: confidence "25.875" xsd:double [Term] id: MONDO:0007160 name: Stickler syndrome type 1 +subset: gard_rare {source="GARD:5018"} subset: ordo_clinical_subtype {source="Orphanet:90653"} synonym: "arthroophthalmopathy, hereditary progressive" RELATED [OMIM:108300] synonym: "Stickler syndrome type 1" EXACT CLINGEN_PREFERRED [] @@ -128637,6 +129132,7 @@ synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300] synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300] synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300] xref: DOID:0080676 {source="MONDO:equivalentTo"} +xref: GARD:5018 {source="Orphanet:90653"} xref: ICD10CM:Q87.5 {source="Orphanet:90653", source="Orphanet:90653/attributed", source="Orphanet:90653/ntbt"} xref: MESH:C537492 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} xref: NCIT:C168733 {source="MONDO:equivalentTo"} @@ -128653,10 +129149,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007161 name: spermatogenic failure 2 +subset: gard_rare {source="GARD:15041"} synonym: "Aspermiogenesis Factor" RELATED [OMIM:108420] synonym: "spermatogenic failure 2" EXACT [MONDO:Lexical, OMIM:108420] synonym: "SPGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108420] xref: DOID:0070164 {source="MONDO:equivalentTo"} +xref: GARD:15041 {source="OMIM:108420"} xref: OMIM:108420 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:108420"} xref: UMLS:C1862459 {source="OMIM:108420", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -128676,6 +129174,7 @@ is_a: MONDO:0003847 {source="MESH:C566248/inferred"} ! hereditary disease id: MONDO:0007163 name: episodic ataxia type 2 def: "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." [Orphanet:97] +subset: gard_rare {source="GARD:9602"} subset: ordo_disease {source="Orphanet:97"} synonym: "Acetazolamide-responsive episodic ataxia syndrome" RELATED [GARD:0009602] synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [OMIM:108500] @@ -128697,6 +129196,7 @@ synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97] synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602] xref: DOID:0050990 {source="MONDO:equivalentTo"} +xref: GARD:9602 {source="Orphanet:97"} xref: ICD10CM:G11.8 {source="Orphanet:97", source="Orphanet:97/attributed", source="Orphanet:97/ntbt"} xref: MESH:C535506 {source="MONDO:equivalentTo"} xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="Orphanet:97/e"} @@ -128715,6 +129215,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007164 name: spastic ataxia 1 def: "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17206"} subset: ordo_disease {source="Orphanet:251282"} synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282] @@ -128723,6 +129224,7 @@ synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1] synonym: "SPAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108600, Orphanet:251282] synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050772 {source="MONDO:equivalentTo"} +xref: GARD:17206 {source="Orphanet:251282"} xref: ICD10CM:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="Orphanet:251282/attributed", source="Orphanet:251282/ntbt"} xref: MESH:C566993 {source="MONDO:equivalentTo"} xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="Orphanet:251282/e"} @@ -128739,6 +129241,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0007165 name: spastic ataxia 7 def: "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." [Orphanet:1182] +subset: gard_rare {source="GARD:16560"} subset: ordo_disease {source="Orphanet:1182"} synonym: "autosomal dominant spastic ataxia type 7" EXACT [Orphanet:1182] synonym: "miosis, congenital, with spastic ataxia" RELATED [OMIM:108650] @@ -128747,6 +129250,7 @@ synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1] synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650] synonym: "SPAX7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108650, Orphanet:1182] xref: DOID:0050945 {source="MONDO:equivalentTo"} +xref: GARD:16560 {source="Orphanet:1182"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:1182/attributed", source="Orphanet:1182/ntbt", source="Orphanet:1182"} xref: MESH:C566247 {source="MONDO:equivalentTo"} xref: OMIM:108650 {source="Orphanet:1182/e", source="MONDO:equivalentTo", source="DOID:0050945", source="Orphanet:1182"} @@ -128771,6 +129275,7 @@ is_a: MONDO:0100309 {source="MONDO:cjm"} ! hereditary ataxia id: MONDO:0007167 name: atelosteogenesis type I def: "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." [Orphanet:1190] +subset: gard_rare {source="GARD:9287"} subset: ordo_malformation_syndrome {source="Orphanet:1190"} synonym: "AO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108720, Orphanet:1190] synonym: "AOI" EXACT ABBREVIATION [OMIM:108720, Orphanet:1190] @@ -128780,6 +129285,7 @@ synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical, OMIM:108720] synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190] synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190] synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720] +xref: GARD:9287 {source="Orphanet:1190"} xref: ICD10CM:Q78.8 {source="Orphanet:1190", source="Orphanet:1190/attributed", source="Orphanet:1190/ntbt"} xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} @@ -128797,6 +129303,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007168 name: atelosteogenesis type III def: "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:56305] +subset: gard_rare {source="GARD:10608"} subset: ordo_malformation_syndrome {source="Orphanet:56305"} synonym: "AO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108721, Orphanet:56305] synonym: "AOIII" EXACT ABBREVIATION [Orphanet:56305] @@ -128804,6 +129311,7 @@ synonym: "Aoiii" RELATED [OMIM:108721] synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305] synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721] synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721] +xref: GARD:10608 {source="Orphanet:56305"} xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="Orphanet:56305/attributed", source="Orphanet:56305/ntbt"} xref: MESH:C579928 {source="MONDO:equivalentTo"} xref: OMIM:108721 {source="Orphanet:56305", source="MONDO:equivalentTo", source="Orphanet:56305/e"} @@ -128836,7 +129344,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007170 name: atresia of external auditory canal and conductive deafness +subset: gard_rare {source="GARD:18274"} synonym: "atresia of external auditory canal and conductive deafness" EXACT [OMIM:108760] +xref: GARD:18274 {source="OMIM:108760"} xref: OMIM:108760 {source="MONDO:equivalentTo"} xref: Orphanet:141074 {source="OMIM:108760"} xref: UMLS:C1862395 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -128848,6 +129358,7 @@ property_value: confidence "39.49999999999994" xsd:double id: MONDO:0007171 name: atrial standstill 1 def: "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18611"} synonym: "atrial cardiomyopathy with heart block" RELATED [OMIM:108770] synonym: "atrial standstill 1" EXACT [MONDO:Lexical, OMIM:108770] synonym: "atrial standstill caused by mutation in GJA5" EXACT [MONDO:design_pattern] @@ -128857,6 +129368,7 @@ synonym: "ATRST1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108770] synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [OMIM:108770] synonym: "GJA5 atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080662 {source="MONDO:equivalentTo"} +xref: GARD:18611 {source="OMIM:108770"} xref: OMIM:108770 {source="MONDO:equivalentTo"} xref: Orphanet:1344 {source="OMIM:108770"} xref: UMLS:C1838539 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:108770"} @@ -128894,6 +129406,7 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0007173 name: atrial septal defect 7 def: "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." [Orphanet:1479] +subset: gard_rare {source="GARD:16566"} subset: ordo_malformation_syndrome {source="Orphanet:1479"} synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112, OMIM:108900] synonym: "ASD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108900] @@ -128904,6 +129417,7 @@ synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [ synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112] synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110112 {source="MONDO:equivalentTo"} +xref: GARD:16566 {source="Orphanet:1479"} xref: ICD10CM:Q21.1 {source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/attributed", source="Orphanet:1479/ntbt"} xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/e"} xref: Orphanet:1479 {source="MONDO:equivalentTo", source="OMIM:108900", source="DOID:0110112"} @@ -128921,12 +129435,14 @@ property_value: confidence "6.499999999999998" xsd:double id: MONDO:0007174 name: Lown-Ganong-Levine syndrome def: "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." [Orphanet:844] +subset: gard_rare {source="GARD:16550"} subset: ordo_disease {source="Orphanet:844"} synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, Orphanet:844] synonym: "LGL syndrome" EXACT [Orphanet:844] synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087] xref: DOID:13087 {source="MONDO:equivalentTo"} +xref: GARD:16550 {source="Orphanet:844"} xref: ICD10CM:I45.6 {source="Orphanet:844/inclusion", source="Orphanet:844/ntbt", source="Orphanet:844", source="DOID:13087"} xref: ICD9:426.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13087"} xref: MedDRA:10024984 {source="Orphanet:844", source="Orphanet:844/e"} @@ -128954,6 +129470,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007176 name: helicoid peripapillary chorioretinal degeneration def: "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." [Orphanet:86813] +subset: gard_rare {source="GARD:16757"} subset: ordo_disease {source="Orphanet:86813"} synonym: "atrophia areata" EXACT [OMIM:108985, Orphanet:86813] synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [OMIM:108985] @@ -128962,6 +129479,7 @@ synonym: "SCRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108985, Orphanet:86813] synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985] synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813] xref: DOID:0111228 {source="MONDO:equivalentTo"} +xref: GARD:16757 {source="Orphanet:86813"} xref: ICD10CM:H31.2 {source="Orphanet:86813", source="Orphanet:86813/attributed", source="Orphanet:86813/ntbt"} xref: MESH:C566236 {source="MONDO:equivalentTo"} xref: OMIM:108985 {source="MONDO:equivalentTo", source="Orphanet:86813", source="Orphanet:86813/e"} @@ -128976,11 +129494,12 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0007177 name: auriculoosteodysplasia def: "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." [Orphanet:114] -subset: gard_rare {source="GARD:0008663"} +subset: gard_rare {source="GARD:8663"} subset: ordo_malformation_syndrome {source="Orphanet:114"} synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663] synonym: "auriculoosteodysplasia" EXACT [OMIM:109000] synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663] +xref: GARD:8663 {source="Orphanet:114"} xref: ICD10CM:Q87.5 {source="Orphanet:114", source="Orphanet:114/attributed", source="Orphanet:114/ntbt"} xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} @@ -129046,7 +129565,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007181 name: axial osteomalacia -subset: gard_rare {source="GARD:0008431"} synonym: "atypical osteomalacia involving the axial skeleton" RELATED [GARD:0008431] synonym: "axial osteomalacia" EXACT [OMIM:109130] xref: DOID:0080039 {source="MONDO:equivalentTo"} @@ -129062,6 +129580,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8431/axial-o id: MONDO:0007182 name: Machado-Joseph disease def: "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." [Orphanet:98757] +subset: gard_rare {source="GARD:6801"} subset: ordo_disease {source="Orphanet:98757"} synonym: "autosomal dominant striatonigral degeneration" EXACT [Orphanet:98757] synonym: "Azorean disease" EXACT [DOID:1440] @@ -129079,6 +129598,7 @@ synonym: "spinocerebellar atrophy 3" RELATED [OMIM:109150] synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801] synonym: "Spinopontine atrophy" RELATED [OMIM:109150] xref: DOID:1440 {source="MONDO:equivalentTo"} +xref: GARD:6801 {source="Orphanet:98757"} xref: ICD10CM:G11.8 {source="Orphanet:98757", source="Orphanet:98757/attributed", source="Orphanet:98757/ntbt"} xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017827 {source="DOID:1440", source="MONDO:equivalentTo"} @@ -129118,10 +129638,11 @@ property_value: confidence "1.541757443718228" xsd:double id: MONDO:0007185 name: Banki syndrome def: "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." [Orphanet:1228] -subset: gard_rare {source="GARD:0000813"} +subset: gard_rare {source="GARD:813"} subset: ordo_malformation_syndrome {source="Orphanet:1228"} synonym: "Banki syndrome" EXACT [OMIM:109300] synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813] +xref: GARD:813 {source="Orphanet:1228"} xref: ICD10CM:Q68.1 {source="Orphanet:1228", source="Orphanet:1228/attributed", source="Orphanet:1228/ntbt"} xref: MESH:C566228 {source="MONDO:equivalentTo"} xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="Orphanet:1228/e"} @@ -129175,6 +129696,7 @@ id: MONDO:0007187 name: nevoid basal cell carcinoma syndrome def: "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." [Orphanet:377] subset: clingen +subset: gard_rare {source="GARD:7166"} subset: ordo_malformation_syndrome {source="Orphanet:377"} synonym: "basal cell nevus syndrome" EXACT [DOID:2512, MONDO:Lexical, OMIM:109400, Orphanet:377] synonym: "BCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109400] @@ -129187,6 +129709,7 @@ synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892] synonym: "nevoid basal cell carcinoma syndrome" EXACT CLINGEN_PREFERRED [OMIM:109400, Orphanet:377] xref: DOID:0070365 {source="MONDO:equivalentTo"} xref: DOID:2512 {source="MONDO:equivalentTo"} +xref: GARD:7166 {source="Orphanet:377"} xref: ICD10CM:Q87.8 {source="Orphanet:377/attributed", source="Orphanet:377/ntbt", source="Orphanet:377"} xref: MedDRA:10062804 {source="Orphanet:377/e", source="Orphanet:377"} xref: MESH:D001478 {source="DOID:2512", source="MONDO:equivalentTo"} @@ -129211,10 +129734,12 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0007188 name: primary basilar invagination def: "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." [Orphanet:2285] +subset: gard_rare {source="GARD:1037"} subset: ordo_morphological_anomaly {source="Orphanet:2285"} synonym: "basilar impression, primary" RELATED [OMIM:109500] synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285] synonym: "primary basilar impression" RELATED [GARD:0001037] +xref: GARD:1037 {source="Orphanet:2285"} xref: ICD10CM:Q75.8 {source="Orphanet:2285/attributed", source="Orphanet:2285/ntbt", source="Orphanet:2285"} xref: MESH:C566226 {source="MONDO:equivalentTo"} xref: OMIM:109500 {source="Orphanet:2285/e", source="MONDO:equivalentTo", source="Orphanet:2285"} @@ -129240,6 +129765,7 @@ is_obsolete: true [Term] id: MONDO:0007190 name: leukemia, chronic lymphocytic, susceptibility to, 2 +subset: gard_rare {source="GARD:15042"} subset: predisposition synonym: "B-cell malignancy, low-grade" RELATED [OMIM:109543] synonym: "Clls2" RELATED [OMIM:109543] @@ -129247,6 +129773,7 @@ synonym: "disrupted in B-cell malignancy" RELATED [OMIM:109543] synonym: "leukemia, chronic lymphocytic, B-cell" RELATED [OMIM:109543] synonym: "leukemia, chronic lymphocytic, susceptibility to, 2" EXACT [OMIM:109543] synonym: "leukemia, chronic lymphocytic, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:109543] +xref: GARD:15042 {source="OMIM:109543"} xref: OMIM:109543 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:109543"} xref: UMLS:C1868683 {source="OMIM:109543", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -129258,6 +129785,7 @@ property_value: confidence "1.5244851391448875" xsd:double id: MONDO:0007191 name: Behcet disease def: "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." [Orphanet:117] +subset: gard_rare {source="GARD:848"} subset: ordo_disease {source="Orphanet:117"} synonym: "Adamantiades-Behcet disease" EXACT [DOID:13241] synonym: "BD" RELATED ABBREVIATION [GARD:0000848] @@ -129278,6 +129806,7 @@ synonym: "silk road disease" EXACT [NCIT:C34416] synonym: "triple symptom complex" EXACT [DOID:13241] xref: DOID:13241 {source="MONDO:equivalentTo", source="EFO:0003780"} xref: EFO:0003780 {source="MONDO:equivalentTo", source="DOID:13241"} +xref: GARD:848 {source="Orphanet:117"} xref: ICD10CM:M35.2 {source="Orphanet:117", source="Orphanet:117/e", source="DOID:13241"} xref: ICD9:136.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13241", source="EFO:0003780"} xref: MedDRA:10004213 {source="Orphanet:117", source="Orphanet:117/e"} @@ -129316,10 +129845,12 @@ is_a: MONDO:0003847 {source="OMIM:109660/inferred"} ! hereditary disease [Term] id: MONDO:0007193 name: primary biliary cholangitis 1 +subset: gard_rare {source="GARD:15043"} synonym: "biliary cirrhosis, primary, 1" RELATED [MONDO:Lexical, OMIM:109720] synonym: "Pbc" RELATED [OMIM:109720] synonym: "PBC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109720] xref: DOID:0070358 {source="MONDO:equivalentTo"} +xref: GARD:15043 {source="OMIM:109720"} xref: OMIM:109720 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:109720"} xref: UMLS:C0008312 {source="OMIM:109720"} @@ -129331,12 +129862,14 @@ property_value: confidence "3.0" xsd:double id: MONDO:0007194 name: familial bicuspid aortic valve def: "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." [https://orcid.org/0000-0001-5208-3432, Orphanet:402075] +subset: gard_rare {source="GARD:17670"} subset: ordo_morphological_anomaly {source="Orphanet:402075"} synonym: "aortic valve disease 1" NARROW [MONDO:Lexical, OMIM:109730] synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730] synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:109730] synonym: "familial BAV" EXACT [Orphanet:402075] xref: DOID:0080332 {source="MONDO:equivalentTo"} +xref: GARD:17670 {source="Orphanet:402075"} xref: ICD10CM:Q23.1 {source="Orphanet:402075/attributed", source="Orphanet:402075/ntbt", source="Orphanet:402075"} xref: OMIMPS:109730 {source="MONDO:cjm", source="DOID:0080332", source="MONDO:equivalentTo"} xref: Orphanet:1244 @@ -129356,7 +129889,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007195 name: bifid nose, autosomal dominant +subset: gard_rare {source="GARD:15044"} synonym: "bifid nose, autosomal dominant" EXACT [OMIM:109740] +xref: GARD:15044 {source="OMIM:109740"} xref: OMIM:109740 {source="MONDO:equivalentTo"} xref: Orphanet:2695 {source="OMIM:109740"} xref: UMLS:C2751431 {source="OMIM:109740", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -129400,7 +129935,7 @@ property_value: IAO:0000589 "bladder diverticulum (disease)" xsd:string id: MONDO:0007198 name: Ascher syndrome def: "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." [Orphanet:1253] -subset: gard_rare {source="GARD:0000201"} +subset: gard_rare {source="GARD:201"} subset: ordo_malformation_syndrome {source="Orphanet:1253"} synonym: "Ascher syndrome" EXACT [OMIM:109900] synonym: "Ascher's syndrome" RELATED [GARD:0000201] @@ -129411,6 +129946,7 @@ synonym: "blepharochalasis and double lip" RELATED [GARD:0000201] synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900] synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] +xref: GARD:201 {source="Orphanet:1253"} xref: ICD10CM:Q87.0 {source="Orphanet:1253", source="Orphanet:1253/attributed", source="Orphanet:1253/ntbt"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -129436,11 +129972,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007200 name: blepharonasofacial malformation syndrome def: "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." [Orphanet:1252] -subset: gard_rare {source="GARD:0004238"} +subset: gard_rare {source="GARD:4238"} subset: ordo_malformation_syndrome {source="Orphanet:1252"} synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050] synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252] synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252] +xref: GARD:4238 {source="Orphanet:1252"} xref: ICD10CM:Q87.0 {source="Orphanet:1252", source="Orphanet:1252/attributed", source="Orphanet:1252/ntbt"} xref: MESH:C536303 {source="MONDO:equivalentTo"} xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="Orphanet:1252/e"} @@ -129458,7 +129995,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4238/blephar id: MONDO:0007201 name: blepharophimosis, ptosis, and epicanthus inversus syndrome def: "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." [Orphanet:126] -subset: gard_rare +subset: gard_rare {source="GARD:23"} subset: ordo_malformation_syndrome {source="Orphanet:126"} synonym: "blepharophimosis syndrome type 1" RELATED [GARD:0000023] synonym: "blepharophimosis types 1 and 2" EXACT [Orphanet:126] @@ -129480,6 +130017,7 @@ synonym: "BPES, type 1" RELATED [OMIM:110100] synonym: "BPES, type 2" RELATED [OMIM:110100] synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100] xref: DOID:14778 {source="MONDO:equivalentTo"} +xref: GARD:23 {source="Orphanet:126"} xref: ICD10CM:Q10.3 {source="Orphanet:126", source="Orphanet:126/attributed", source="Orphanet:126/ntbt"} xref: MESH:C562419 {source="DOID:14778", source="MONDO:equivalentTo"} xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="Orphanet:126/e"} @@ -129507,10 +130045,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007202 name: blepharoptosis-myopia-ectopia lentis syndrome def: "This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia." [Orphanet:1259] +subset: gard_rare {source="GARD:912"} subset: ordo_disease {source="Orphanet:1259"} synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912] synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150] synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912] +xref: GARD:912 {source="Orphanet:1259"} xref: ICD10CM:Q15.8 {source="Orphanet:1259", source="Orphanet:1259/attributed", source="Orphanet:1259/ntbt"} xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} @@ -129526,12 +130066,14 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0007203 name: blue rubber bleb nevus def: "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." [Orphanet:1059] +subset: gard_rare {source="GARD:5940"} subset: ordo_malformation_syndrome {source="Orphanet:1059"} synonym: "bean syndrome" EXACT [OMIM:112200, Orphanet:1059] synonym: "blue rubber bleb nevus" EXACT [OMIM:112200] synonym: "blue rubber bleb nevus syndrome" RELATED [GARD:0005940] synonym: "BRBN" EXACT ABBREVIATION [Orphanet:1059] synonym: "BRBNS" RELATED ABBREVIATION [GARD:0005940] +xref: GARD:5940 {source="Orphanet:1059"} xref: ICD10CM:Q27.8 {source="Orphanet:1059/attributed", source="Orphanet:1059/ntbt", source="Orphanet:1059"} xref: MESH:C536240 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"} xref: NCIT:C4486 {source="MONDO:equivalentTo"} @@ -129575,6 +130117,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007205 name: diaphyseal medullary stenosis-bone malignancy syndrome def: "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." [Orphanet:85182] +subset: gard_rare {source="GARD:10072"} subset: ordo_disease {source="Orphanet:85182"} synonym: "BDMF" RELATED ABBREVIATION [GARD:0010072] synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [OMIM:112250] @@ -129589,6 +130132,7 @@ synonym: "Hardcastle syndrome" EXACT [Orphanet:85182] synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660] synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250] xref: DOID:0080664 {source="MONDO:equivalentTo"} +xref: GARD:10072 {source="Orphanet:85182"} xref: ICD10CM:M89.8 {source="Orphanet:85182/attributed", source="Orphanet:85182/ntbt", source="Orphanet:85182"} xref: MESH:C536169 {source="Orphanet:85182/e", source="Orphanet:85182"} xref: NCIT:C122660 {source="MONDO:equivalentTo"} @@ -129618,11 +130162,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007207 name: Böök syndrome def: "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." [Orphanet:1262] +subset: gard_rare {source="GARD:932"} subset: ordo_malformation_syndrome {source="Orphanet:1262"} synonym: "book syndrome" EXACT [OMIM:112300] synonym: "Böök syndrome" EXACT [Orphanet:1262] synonym: "PHC syndrome" RELATED [OMIM:112300] synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932] +xref: GARD:932 {source="Orphanet:1262"} xref: ICD10CM:Q82.4 {source="Orphanet:1262/attributed", source="Orphanet:1262/ntbt", source="Orphanet:1262"} xref: MESH:C562993 {source="MONDO:equivalentTo"} xref: OMIM:112300 {source="Orphanet:1262/e", source="MONDO:equivalentTo", source="Orphanet:1262"} @@ -129636,12 +130182,13 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007208 name: Boomerang dysplasia def: "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." [Orphanet:1263] -subset: gard_rare {source="GARD:0000933"} +subset: gard_rare {source="GARD:933"} subset: ordo_disease {source="Orphanet:1263"} synonym: "Boomerang dysplasia" EXACT [OMIM:112310] synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933] synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933] xref: DOID:0050680 {source="MONDO:equivalentTo"} +xref: GARD:933 {source="Orphanet:1263"} xref: ICD10CM:Q87.1 {source="Orphanet:1263", source="Orphanet:1263/attributed", source="Orphanet:1263/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e"} @@ -129661,6 +130208,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/933/boomeran id: MONDO:0007209 name: Weismann-Netter syndrome def: "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." [Orphanet:3344] +subset: gard_rare {source="GARD:5232"} subset: ordo_malformation_syndrome {source="Orphanet:3344"} synonym: "anterior bowing of legs with dwarfism" EXACT [Orphanet:3344] synonym: "bowing of legs, anterior with dwarfism" RELATED [GARD:0005232] @@ -129671,6 +130219,7 @@ synonym: "WEISMANN-NETTER syndrome" RELATED [OMIM:112350] synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350] synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344] synonym: "WNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112350] +xref: GARD:5232 {source="Orphanet:3344"} xref: ICD10CM:Q77.8 {source="Orphanet:3344/attributed", source="Orphanet:3344/ntbt", source="Orphanet:3344"} xref: MESH:C537082 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} xref: OMIM:112350 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} @@ -129693,6 +130242,7 @@ is_a: MONDO:0003847 {source="MESH:C566206/inferred"} ! hereditary disease id: MONDO:0007211 name: brachydactyly-arterial hypertension syndrome def: "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." [Orphanet:1276] +subset: gard_rare {source="GARD:967"} subset: ordo_malformation_syndrome {source="Orphanet:1276"} synonym: "Bilginturan brachydactyly" EXACT [Orphanet:1276] synonym: "Bilginturan syndrome" EXACT [OMIM:112410, Orphanet:1276] @@ -129703,6 +130253,7 @@ synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [O synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112410] synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410] xref: DOID:0111247 {source="MONDO:equivalentTo"} +xref: GARD:967 {source="Orphanet:1276"} xref: ICD10CM:Q73.8 {source="Orphanet:1276/attributed", source="Orphanet:1276/ntbt", source="Orphanet:1276"} xref: MESH:C537095 {source="MONDO:equivalentTo"} xref: OMIM:112410 {source="Orphanet:1276", source="MONDO:equivalentTo", source="Orphanet:1276/e"} @@ -129724,12 +130275,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007212 name: brachydactyly-long thumb syndrome def: "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." [Orphanet:2946] -subset: gard_rare +subset: gard_rare {source="GARD:968"} subset: ordo_malformation_syndrome {source="Orphanet:2946"} synonym: "brachydactyly long thumb type" RELATED [GARD:0000968] synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946] synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430] synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430] +xref: GARD:968 {source="Orphanet:2946"} xref: ICD10CM:Q87.2 {source="Orphanet:2946", source="Orphanet:2946/attributed", source="Orphanet:2946/ntbt"} xref: MESH:C566204 {source="MONDO:equivalentTo"} xref: OMIM:112430 {source="Orphanet:2946/e", source="MONDO:equivalentTo", source="Orphanet:2946", source="GARD:0000968"} @@ -129767,6 +130319,7 @@ property_value: confidence "24.714285714285715" xsd:double id: MONDO:0007214 name: brachydactyly-preaxial hallux varus syndrome def: "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." [Orphanet:1278] +subset: gard_rare {source="GARD:972"} subset: ordo_malformation_syndrome {source="Orphanet:1278"} synonym: "brachydactyly preaxial with hallux varus and thumb abduction" RELATED [GARD:0000972] synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [OMIM:112450] @@ -129774,6 +130327,7 @@ synonym: "Christian brachydactyly" EXACT [DOID:0110962, OMIM:112450] synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" RELATED [GARD:0000972] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962] xref: DOID:0110962 {source="MONDO:equivalentTo"} +xref: GARD:972 {source="Orphanet:1278"} xref: ICD10CM:Q73.8 {source="Orphanet:1278/attributed", source="Orphanet:1278/ntbt", source="DOID:0110962", source="Orphanet:1278"} xref: MESH:C537087 {source="MONDO:equivalentTo"} xref: OMIM:112450 {source="DOID:0110962", source="Orphanet:1278", source="MONDO:equivalentTo", source="Orphanet:1278/e"} @@ -129786,7 +130340,7 @@ property_value: confidence "23.000000000000085" xsd:double id: MONDO:0007215 name: brachydactyly type A1 def: "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." [Orphanet:93388] -subset: gard_rare {source="GARD:0000978"} +subset: gard_rare {source="GARD:978"} subset: ordo_malformation_syndrome {source="Orphanet:93388"} synonym: "BDA1" EXACT ABBREVIATION [DOID:0110964, MONDO:Lexical, OMIM:112500] synonym: "brachydactyly Farabee type" RELATED [GARD:0000978] @@ -129795,6 +130349,7 @@ synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical, OMIM:112500] synonym: "Farabee type brachydactyly" EXACT [DOID:0110964] synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500] xref: DOID:0110964 {source="MONDO:equivalentTo"} +xref: GARD:978 {source="Orphanet:93388"} xref: ICD10CM:Q73.8 {source="Orphanet:93388/attributed", source="Orphanet:93388/ntbt", source="Orphanet:93388"} xref: MESH:C537088 {source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} @@ -129810,7 +130365,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/978/brachyda id: MONDO:0007216 name: brachydactyly type A2 def: "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." [Orphanet:93396] -subset: gard_rare {source="GARD:0000979"} +subset: gard_rare {source="GARD:979"} subset: ordo_malformation_syndrome {source="Orphanet:93396"} synonym: "BDA2" EXACT ABBREVIATION [DOID:0110965, MONDO:Lexical, OMIM:112600] synonym: "brachydactyly, Mohr-Wriedt type" EXACT [Orphanet:93396] @@ -129820,6 +130375,7 @@ synonym: "brachymesophalangy II" EXACT [DOID:0110965] synonym: "Brachymesophalangy type 2" RELATED [GARD:0000989] synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600] xref: DOID:0110965 {source="MONDO:equivalentTo"} +xref: GARD:979 {source="Orphanet:93396"} xref: ICD10CM:Q73.8 {source="DOID:0110965", source="Orphanet:93396/attributed", source="Orphanet:93396/ntbt", source="Orphanet:93396"} xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} @@ -129835,7 +130391,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/989/brachyme [Term] id: MONDO:0007217 name: brachydactyly type A3 -subset: gard_rare {source="GARD:0000963"} synonym: "BDA3" EXACT ABBREVIATION [DOID:0110966, MONDO:Lexical, OMIM:112700] synonym: "brachydactyly, type A3" RELATED [MONDO:Lexical, OMIM:112700] synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700, Orphanet:93393] @@ -129853,7 +130408,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/963/brachyda id: MONDO:0007218 name: brachydactyly type A4 def: "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." [Orphanet:93394] -subset: gard_rare {source="GARD:0000990"} +subset: gard_rare {source="GARD:990"} subset: ordo_malformation_syndrome {source="Orphanet:93394"} synonym: "BDA4" EXACT ABBREVIATION [DOID:0110967, MONDO:Lexical, OMIM:112800] synonym: "brachydactyly Temtamy type" RELATED [GARD:0000990] @@ -129864,6 +130419,7 @@ synonym: "Brachymesophalangy II and V" EXACT [Orphanet:93394] synonym: "brachymesophalangy II and V" EXACT [DOID:0110967] synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800] xref: DOID:0110967 {source="MONDO:equivalentTo"} +xref: GARD:990 {source="Orphanet:93394"} xref: ICD10CM:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="Orphanet:93394/attributed", source="Orphanet:93394/ntbt"} xref: MESH:C537097 {source="MONDO:equivalentTo"} xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="Orphanet:93394/e"} @@ -129878,7 +130434,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/990/brachyda id: MONDO:0007219 name: Osebold-Remondini syndrome def: "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:93382] -subset: gard_rare {source="GARD:0000983"} +subset: gard_rare {source="GARD:983"} subset: ordo_malformation_syndrome {source="Orphanet:93382"} synonym: "BDA6" EXACT ABBREVIATION [DOID:0110968] synonym: "brachydactyly type A6" EXACT [OMIM:112910] @@ -129888,6 +130444,7 @@ synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal os synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910] synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382] xref: DOID:0110968 {source="MONDO:equivalentTo"} +xref: GARD:983 {source="Orphanet:93382"} xref: ICD10CM:Q73.8 {source="DOID:0110968", source="Orphanet:93382/attributed", source="Orphanet:93382/ntbt", source="Orphanet:93382"} xref: MESH:C537092 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} xref: OMIM:112910 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} @@ -129904,12 +130461,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/983/brachyda id: MONDO:0007220 name: brachydactyly type B1 def: "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18009"} synonym: "BDB1" EXACT ABBREVIATION [DOID:0110969, MONDO:Lexical, OMIM:113000] synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type B" RELATED [OMIM:113000] synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000] synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110969 {source="MONDO:equivalentTo"} +xref: GARD:18009 {source="Orphanet:572385"} xref: MESH:C566196 {source="MONDO:equivalentTo"} xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"} xref: Orphanet:572385 {source="MONDO:equivalentTo"} @@ -129925,6 +130484,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007221 name: brachydactyly type C +subset: gard_rare {source="GARD:986"} subset: ordo_malformation_syndrome {source="Orphanet:93384"} synonym: "BDC" RELATED EXCLUDE [DOID:0110970, MONDO:Lexical, OMIM:113100] synonym: "brachydactyly Haws type" RELATED [GARD:0000986] @@ -129932,6 +130492,7 @@ synonym: "brachydactyly type C" EXACT CLINGEN_PREFERRED [] synonym: "brachydactyly, Haws type" RELATED [OMIM:113100] synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100] xref: DOID:0110970 {source="MONDO:equivalentTo"} +xref: GARD:986 {source="Orphanet:93384"} xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="Orphanet:93384/attributed", source="Orphanet:93384/ntbt", source="DOID:0110970"} xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} @@ -129992,9 +130553,11 @@ is_a: MONDO:0019677 ! brachydactyly type E id: MONDO:0007225 name: fibular aplasia-ectrodactyly syndrome def: "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." [Orphanet:1118] +subset: gard_rare {source="GARD:2331"} subset: ordo_malformation_syndrome {source="Orphanet:1118"} synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310] synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331] +xref: GARD:2331 {source="Orphanet:1118"} xref: ICD10CM:Q73.8 {source="Orphanet:1118", source="Orphanet:1118/attributed", source="Orphanet:1118/ntbt"} xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} @@ -130014,13 +130577,14 @@ id: MONDO:0007226 name: brachydactyly-nystagmus-cerebellar ataxia syndrome def: "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." [Orphanet:1246] comment: Editor note: check GARD -subset: gard_rare +subset: gard_rare {source="GARD:971"} subset: ordo_malformation_syndrome {source="Orphanet:1246"} synonym: "Biemond syndrome" EXACT [Orphanet:1246] synonym: "Biemond syndrome type 1" RELATED [GARD:0000881] synonym: "brachydactyly - nystagmus - cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400] +xref: GARD:971 {source="Orphanet:1246"} xref: ICD10CM:Q87.8 {source="Orphanet:1246/attributed", source="Orphanet:1246/ntbt", source="Orphanet:1246"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566192 {source="MONDO:equivalentTo"} @@ -130037,9 +130601,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/881/biemond- id: MONDO:0007227 name: Sillence syndrome def: "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." [Orphanet:3168] +subset: gard_rare {source="GARD:4869"} subset: ordo_malformation_syndrome {source="Orphanet:3168"} synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869, OMIM:113450] synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168] +xref: GARD:4869 {source="Orphanet:3168"} xref: ICD10CM:Q74.8 {source="Orphanet:3168/attributed", source="Orphanet:3168/ntbt", source="Orphanet:3168"} xref: MESH:C537338 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} xref: OMIM:113450 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} @@ -130076,11 +130642,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007230 name: Brachymorphism-onychodysplasia-dysphalangism syndrome def: "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." [Orphanet:1292] +subset: gard_rare {source="GARD:918"} subset: ordo_malformation_syndrome {source="Orphanet:1292"} synonym: "bod syndrome" EXACT [OMIM:113477, Orphanet:1292] synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0000918] synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477] synonym: "Senior syndrome" EXACT [Orphanet:1292] +xref: GARD:918 {source="Orphanet:1292"} xref: ICD10CM:Q87.1 {source="Orphanet:1292/attributed", source="Orphanet:1292/ntbt", source="Orphanet:1292"} xref: MESH:C536242 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} xref: OMIM:113477 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} @@ -130100,8 +130668,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007231 name: brachytelephalangy-dysmorphism-Kallmann syndrome def: "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." [Orphanet:1295] +subset: gard_rare {source="GARD:16562"} subset: ordo_malformation_syndrome {source="Orphanet:1295"} synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480] +xref: GARD:16562 {source="Orphanet:1295"} xref: ICD10CM:Q87.0 {source="Orphanet:1295/attributed", source="Orphanet:1295/ntbt", source="Orphanet:1295"} xref: MESH:C537101 {source="MONDO:equivalentTo"} xref: OMIM:113480 {source="Orphanet:1295/e", source="MONDO:equivalentTo", source="Orphanet:1295"} @@ -130120,12 +130690,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007232 name: autosomal dominant brachyolmia def: "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." [Orphanet:93304] +subset: gard_rare {source="GARD:10429"} subset: ordo_malformation_syndrome {source="Orphanet:93304"} synonym: "BCYM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113500] synonym: "brachyolmia autosomal dominant" RELATED [GARD:0010429] synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304] synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500] synonym: "brachyrachia" RELATED [OMIM:113500] +xref: GARD:10429 {source="Orphanet:93304"} xref: ICD10CM:Q76.3 {source="Orphanet:93304", source="Orphanet:93304/attributed", source="Orphanet:93304/ntbt"} xref: OMIM:113500 {source="MONDO:equivalentTo", source="Orphanet:93304", source="Orphanet:93304/e"} xref: Orphanet:93304 {source="MONDO:equivalentTo", source="OMIM:113500"} @@ -130145,6 +130717,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007233 name: second branchial cleft anomaly def: "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." [NCIT:C104813] +subset: gard_rare {source="GARD:16968"} subset: ordo_morphological_anomaly {source="Orphanet:141022"} synonym: "branchial cleft" EXACT [NCIT:C104813] synonym: "branchial cleft anomalies" RELATED [OMIM:113600] @@ -130152,6 +130725,7 @@ synonym: "branchial cleft remnant" EXACT [NCIT:C104813] synonym: "branchial cysts" RELATED [OMIM:113600] synonym: "second branchial cleft cyst" EXACT [Orphanet:141022] synonym: "second branchial cleft fistula" EXACT [Orphanet:141022] +xref: GARD:16968 {source="Orphanet:141022"} xref: ICD10CM:Q18.0 {source="Orphanet:141022/ntbt", source="Orphanet:141022"} xref: NCIT:C104813 {source="MONDO:equivalentTo"} xref: OMIM:113600 {source="Orphanet:141022", source="MONDO:equivalentTo", source="Orphanet:141022/e"} @@ -130176,7 +130750,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007235 name: branchiooculofacial syndrome def: "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." [Orphanet:1297] -subset: gard_rare {source="GARD:0003212"} +subset: gard_rare {source="GARD:3212"} subset: ordo_malformation_syndrome {source="Orphanet:1297"} synonym: "Bof syndrome" RELATED [OMIM:113620] synonym: "BOFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113620, Orphanet:1297] @@ -130190,6 +130764,7 @@ synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620] synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" RELATED [OMIM:113620] synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" RELATED [OMIM:113620] xref: DOID:0050691 {source="MONDO:equivalentTo"} +xref: GARD:3212 {source="Orphanet:1297"} xref: ICD10CM:Q18.8 {source="Orphanet:1297", source="Orphanet:1297/attributed", source="Orphanet:1297/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:113620 {source="Orphanet:1297", source="MONDO:equivalentTo", source="Orphanet:1297/e", source="DOID:0050691"} @@ -130225,6 +130800,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007237 name: familial juvenile hypertrophy of the breast def: "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." [Orphanet:180176] +subset: gard_rare {source="GARD:9450"} subset: ordo_morphological_anomaly {source="Orphanet:180176"} synonym: "familial juvenile gigantomastia" EXACT [Orphanet:180176] synonym: "gigantomastia, juvenile" RELATED [OMIM:113670] @@ -130234,6 +130810,7 @@ synonym: "juvenile gigantomastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "juvenile macromastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "virginal breast hypertrophy" EXACT [Orphanet:180176, Wikipedia:Breast_hypertrophy] synonym: "virginal mammary hypertrophy" EXACT [Wikipedia:Breast_hypertrophy] +xref: GARD:9450 {source="Orphanet:180176"} xref: ICD10CM:N62 {source="MONDO:relatedTo", source="Orphanet:180176", source="Orphanet:180176/ntbt"} xref: MESH:C536821 {source="MONDO:equivalentTo"} xref: OMIM:113670 {source="MONDO:equivalentTo", source="Orphanet:180176", source="Orphanet:180176/e"} @@ -130249,7 +130826,6 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0007238 name: amastia def: "Absence of one or both mammary glands." [NCIT:C118459] -subset: gard_rare synonym: "absent breasts and nipples" RELATED [GARD:0009489] synonym: "amastia" EXACT [GARD:0009489] synonym: "amazia" RELATED [OMIM:113700] @@ -130274,6 +130850,7 @@ id: MONDO:0007239 name: epidermolytic ichthyosis def: "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." [Orphanet:312] comment: Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? +subset: gard_rare {source="GARD:1039"} subset: ordo_disease {source="Orphanet:312"} synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [Orphanet:312] synonym: "BCIE" EXACT ABBREVIATION [Orphanet:312] @@ -130293,6 +130870,7 @@ synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603] synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312] xref: DOID:0081358 {source="MONDO:equivalentTo"} xref: DOID:4603 {source="MONDO:equivalentTo"} +xref: GARD:1039 {source="Orphanet:312"} xref: ICD10CM:Q80.3 {source="Orphanet:312", source="Orphanet:312/e", source="DOID:4603", source="Orphanet:312/specific"} xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"} xref: NCIT:C62569 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:4603"} @@ -130310,7 +130888,7 @@ id: MONDO:0007240 name: progressive familial heart block, type 1A def: "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block." [NCIT:C126651] comment: Editor note: consider separating aquired and inherited -subset: gard_rare +subset: gard_rare {source="GARD:1093"} synonym: "bundle branch block" RELATED EXCLUDE [OMIM:113900] synonym: "Cardiac conduction defect, nonprogressive" RELATED [OMIM:113900] synonym: "Cardiac conduction defect, progressive" RELATED [OMIM:113900] @@ -130332,6 +130910,7 @@ synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, OMIM: synonym: "SCN5A progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111074 {source="MONDO:equivalentTo"} xref: EFO:0004138 {source="MONDO:equivalentTo"} +xref: GARD:1093 {source="OMIM:113900"} xref: MESH:D002037 {source="EFO:0004138", source="MONDO:equivalentTo"} xref: NCIT:C126651 {source="MONDO:equivalentTo"} xref: OMIM:113900 {source="EFO:0004138", source="DOID:0111074", source="MONDO:equivalentTo", source="GARD:0001093"} @@ -130372,6 +130951,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007243 name: Burkitt lymphoma def: "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." [Orphanet:543] +subset: gard_rare {source="GARD:5973"} subset: ordo_disease {source="Orphanet:543"} synonym: "BL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113970] synonym: "Burkitt lymphoma" EXACT [MONDO:Lexical, NCIT:C2912, OMIM:113970] @@ -130387,6 +130967,7 @@ synonym: "small non-cleaved cell lymphoma" EXACT [Orphanet:543] synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCIT:C2912] xref: DOID:8584 {source="MONDO:equivalentTo", source="EFO:0000309"} xref: EFO:0000309 {source="MONDO:equivalentTo"} +xref: GARD:5973 {source="Orphanet:543"} xref: ICD10CM:C83.7 {source="Orphanet:543", source="Orphanet:543/e", source="DOID:8584"} xref: ICD10CM:C83.70 {source="DOID:8584"} xref: ICD9:200.2 {source="DOID:8584", source="EFO:0000309"} @@ -130424,11 +131005,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007244 name: Caffey disease def: "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." [Orphanet:1310] +subset: gard_rare {source="GARD:1051"} subset: ordo_malformation_syndrome {source="Orphanet:1310"} synonym: "Caffey disease" EXACT [NCIT:C118423, OMIM:114000] synonym: "cortical congenital hyperostosis" EXACT [DOID:4257] synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310] xref: DOID:4257 {source="MONDO:equivalentTo"} +xref: GARD:1051 {source="Orphanet:1310"} xref: ICD10CM:M89.8 {source="DOID:4257", source="Orphanet:1310", source="Orphanet:1310/attributed", source="Orphanet:1310/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006958 {source="DOID:4257", source="MONDO:equivalentTo"} @@ -130452,7 +131035,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007245 name: cafe au lait spots, multiple def: "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." [https://orcid.org/0000-0001-5208-3432, Orphanet:2678] -subset: gard_rare {source="GARD:0003967"} +subset: gard_rare {source="GARD:3967"} subset: ordo_malformation_syndrome {source="Orphanet:2678"} synonym: "autosomal dominant café au lait spots" EXACT [GARD:0003967] synonym: "cafe-au-lait spots, multiple" EXACT [GARD:0001050, OMIM:114030] @@ -130464,6 +131047,7 @@ synonym: "multiple café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] synonym: "multiple café-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678] synonym: "neurofibromatosis type 6" EXACT [GARD:0003967, Orphanet:2678] synonym: "NF6" EXACT ABBREVIATION [GARD:0003967, Orphanet:2678] +xref: GARD:3967 {source="Orphanet:2678"} xref: ICD10CM:L81.3 {source="Orphanet:2678", source="Orphanet:2678/specific", source="Orphanet:2678/e"} xref: MESH:C537421 {source="MONDO:equivalentTo"} xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="GARD:0003967", source="GARD:0001050", source="Orphanet:2678/e"} @@ -130486,7 +131070,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007247 name: basal ganglia calcification, idiopathic, childhood-onset comment: Not in the OMIM series. {source="OMIM:114100"} -subset: gard_rare {source="GARD:0009598"} +subset: gard_rare {source="GARD:9598"} synonym: "basal ganglia calcification, idiopathic, childhood-onset" EXACT [OMIM:114100] synonym: "bilateral striopallidodentate calcinosis childhood-onset" RELATED [GARD:0009598] synonym: "cerebral calcification nonarteriosclerotic idiopathic childhood-onset" RELATED [GARD:0009598] @@ -130495,6 +131079,7 @@ synonym: "IBGC childhood onset" RELATED [GARD:0009598] synonym: "IBGC, childhood-onset" RELATED [OMIM:114100] synonym: "idiopathic basal ganglia calcification childhood-onset" RELATED [GARD:0009598] synonym: "striopallidodentate calcinosis, bilateral, childhood-onset" RELATED [OMIM:114100] +xref: GARD:9598 {source="OMIM:114100"} xref: MESH:C536276 {source="MONDO:equivalentTo"} xref: OMIM:114100 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:114100"} @@ -130510,6 +131095,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9598/idiopat id: MONDO:0007248 name: hereditary painful callosities def: "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." [Orphanet:79141] +subset: gard_rare {source="GARD:16705"} subset: ordo_disease {source="Orphanet:79141"} synonym: "callosities, hereditary painful" RELATED [OMIM:114140] synonym: "callosities, painful plantar" RELATED [OMIM:114140] @@ -130517,6 +131103,7 @@ synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141] synonym: "PPK nummularis" EXACT [Orphanet:79141] +xref: GARD:16705 {source="Orphanet:79141"} xref: ICD10CM:Q82.8 {source="Orphanet:79141", source="Orphanet:79141/attributed", source="Orphanet:79141/ntbt"} xref: MESH:C566180 {source="MONDO:equivalentTo"} xref: OMIM:114140 {source="MONDO:equivalentTo", source="Orphanet:79141", source="Orphanet:79141/e"} @@ -130533,10 +131120,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007249 name: camptobrachydactyly def: "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." [Orphanet:1319] -subset: gard_rare {source="GARD:0001062"} +subset: gard_rare {source="GARD:1062"} subset: ordo_malformation_syndrome {source="Orphanet:1319"} synonym: "camptobrachydactyly" EXACT [OMIM:114150] synonym: "short foot/brachydactyly of toes, camptodactyly, brachydactyly" RELATED [GARD:0001062] +xref: GARD:1062 {source="Orphanet:1319"} xref: ICD10CM:Q74.8 {source="Orphanet:1319/attributed", source="Orphanet:1319/ntbt", source="Orphanet:1319"} xref: MESH:C537967 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} xref: OMIM:114150 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} @@ -130551,7 +131139,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1062/camptob id: MONDO:0007250 name: camptodactyly of fingers def: "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." [Orphanet:295016] -subset: gard_rare +subset: gard_rare {source="GARD:9448"} subset: ordo_morphological_anomaly {source="Orphanet:295016"} synonym: "CAMPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114200] synonym: "camptodactyly 1" RELATED [MONDO:Lexical, OMIM:114200] @@ -130560,6 +131148,7 @@ synonym: "crooked little finger, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "familial streblodactyly" RELATED [GARD:0009448] synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "streblodactyly" RELATED [OMIM:114200] +xref: GARD:9448 {source="Orphanet:295016"} xref: ICD10CM:Q68.1 {source="Orphanet:295016", source="Orphanet:295016/attributed", source="Orphanet:295016/ntbt"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536852 {source="MONDO:equivalentTo"} @@ -130579,6 +131168,7 @@ id: MONDO:0007251 name: campomelic dysplasia def: "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." [Orphanet:140] comment: Editor note: consider adding grouping class for related disorders +subset: gard_rare {source="GARD:10027"} subset: ordo_malformation_syndrome {source="Orphanet:140"} synonym: "acampomelic campomelic dysplasia" NARROW [DOID:0050463, OMIM:114290] synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290] @@ -130592,6 +131182,7 @@ synonym: "Cmpd" RELATED [OMIM:114290] synonym: "CMPD1" RELATED ABBREVIATION [GARD:0010027] synonym: "Cmpd1/Sra1" RELATED [OMIM:114290] xref: DOID:0050463 {source="MONDO:equivalentTo"} +xref: GARD:10027 {source="Orphanet:140"} xref: ICD10CM:Q87.1 {source="Orphanet:140", source="Orphanet:140/attributed", source="Orphanet:140/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} @@ -130619,7 +131210,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007252 name: Gordon syndrome def: "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." [https://orcid.org/0000-0001-5208-3432, Orphanet:376] -subset: gard_rare {source="GARD:0002553"} +subset: gard_rare {source="GARD:2553"} subset: ordo_malformation_syndrome {source="Orphanet:376"} synonym: "arthrogryposis distal type 3" RELATED [GARD:0002553] synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [OMIM:114300] @@ -130631,6 +131222,7 @@ synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376] synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376] synonym: "Gordon syndrome" EXACT [OMIM:114300] xref: DOID:0111607 {source="MONDO:equivalentTo"} +xref: GARD:2553 {source="Orphanet:376"} xref: ICD10CM:Q68.8 {source="Orphanet:376/attributed", source="Orphanet:376/ntbt", source="Orphanet:376"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537288 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"} @@ -130704,6 +131296,7 @@ replaced_by: MONDO:0005575 id: MONDO:0007256 name: hepatocellular carcinoma def: "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." [NCIT:C3099] +subset: gard_rare {source="GARD:16773"} subset: ordo_disease {source="Orphanet:88673"} synonym: "adult hepatoma" NARROW [DOID:684, NCIT:C7956] synonym: "adult primary hepatocellular carcinoma" NARROW [DOID:684] @@ -130733,6 +131326,7 @@ synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099] xref: DOID:684 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000182"} xref: DOID:686 {source="MONDO:equivalentTo"} xref: EFO:0000182 {source="MONDO:equivalentTo", source="DOID:684"} +xref: GARD:16773 {source="Orphanet:88673"} xref: ICD10CM:C22.0 {source="Orphanet:88673/e", source="Orphanet:88673"} xref: ICDO:8170/3 {source="NCIT:C3099"} xref: MedDRA:10049010 {source="Orphanet:88673/e", source="Orphanet:88673"} @@ -130792,9 +131386,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007259 name: craniofaciofrontodigital syndrome def: "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." [Orphanet:363705] +subset: gard_rare {source="GARD:17571"} subset: ordo_disease {source="Orphanet:363705"} synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705] synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620] +xref: GARD:17571 {source="Orphanet:363705"} xref: ICD10CM:Q87.0 {source="Orphanet:363705/attributed", source="Orphanet:363705/ntbt", source="Orphanet:363705"} xref: MESH:C567298 {source="MONDO:equivalentTo"} xref: OMIM:114620 {source="Orphanet:363705/e", source="MONDO:equivalentTo", source="Orphanet:363705"} @@ -130969,7 +131565,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007269 name: dilated cardiomyopathy 1A def: "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." [Orphanet:300751] -subset: gard_rare +subset: gard_rare {source="GARD:1104", source="GARD:18615"} subset: ordo_disease {source="Orphanet:300751"} synonym: "cardiomyopathy dilated with conduction defect type 1" EXACT [MONDO:0022651] synonym: "cardiomyopathy, congestive" RELATED [OMIM:115200] @@ -130987,6 +131583,8 @@ synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mut synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110425 {source="MONDO:equivalentTo"} +xref: GARD:1104 {source="OMIM:115200"} +xref: GARD:18615 {source="Orphanet:300751"} xref: ICD10CM:I42.0 {source="Orphanet:300751/attributed", source="Orphanet:300751/ntbt", source="Orphanet:300751"} xref: OMIM:115200 {source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo", source="Orphanet:300751/e"} xref: Orphanet:300751 {source="DOID:0110425", source="OMIM:115200", source="MONDO:equivalentTo"} @@ -131003,6 +131601,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1104/cardiom id: MONDO:0007270 name: cardiomyopathy, familial restrictive, 1 def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18070"} synonym: "cardiomyopathy, familial restrictive, 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:115210] synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1, OMIM:115210] synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern] @@ -131010,6 +131609,7 @@ synonym: "Rcm" RELATED [OMIM:115210] synonym: "RCM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115210] synonym: "TNNI3 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111425 {source="MONDO:equivalentTo"} +xref: GARD:18070 {source="OMIM:115210"} xref: MESH:C566168 {source="MONDO:equivalentTo"} xref: OMIM:115210 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:115210"} @@ -131022,9 +131622,10 @@ property_value: confidence "1.1130104463437793" xsd:double id: MONDO:0007271 name: familial cutaneous collagenoma def: "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." [Orphanet:53296] -subset: gard_rare {source="GARD:0009799"} +subset: gard_rare {source="GARD:9799"} subset: ordo_disease {source="Orphanet:53296"} synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250] +xref: GARD:9799 {source="Orphanet:53296"} xref: ICD10CM:L94.8 {source="Orphanet:53296/attributed", source="Orphanet:53296/ntbt", source="Orphanet:53296"} xref: MESH:C562925 {source="MONDO:equivalentTo"} xref: OMIM:115250 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="Orphanet:53296"} @@ -131041,10 +131642,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9799/familia id: MONDO:0007272 name: hereditary hypercarotenemia and vitamin A deficiency def: "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." [Orphanet:199285] +subset: gard_rare {source="GARD:17090", source="GARD:18301"} subset: ordo_disease {source="Orphanet:199285"} synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300] synonym: "HCVAD" RELATED ABBREVIATION [OMIM:115300] synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300] +xref: GARD:17090 {source="Orphanet:199285"} +xref: GARD:18301 {source="OMIM:115300"} xref: ICD10CM:E50.8 {source="Orphanet:199285", source="Orphanet:199285/attributed", source="Orphanet:199285/ntbt"} xref: MESH:C567296 {source="MONDO:equivalentTo"} xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="Orphanet:199285/e"} @@ -131064,7 +131668,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007273 name: paragangliomas 4 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010546"} +subset: gard_rare {source="GARD:10546"} synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310] synonym: "carotid body tumours and multiple extraadrenal Pheochromocytomas" RELATED OMO:0003005 [] synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern] @@ -131078,6 +131682,7 @@ synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [O synonym: "pheochromocytoma, familial extraadrenal" RELATED [OMIM:115310] synonym: "SDHB paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome" RELATED [GARD:0010546] +xref: GARD:10546 {source="OMIM:115310"} xref: OMIM:115310 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:115310"} xref: UMLS:C1861848 {source="OMIM:115310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -131132,7 +131737,7 @@ id: MONDO:0007276 name: cat-eye syndrome def: "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." [Orphanet:195] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0000026"} +subset: gard_rare {source="GARD:26"} subset: ordo_malformation_syndrome {source="Orphanet:195"} synonym: "CAT eye syndrome" RELATED [MONDO:Lexical, OMIM:115470] synonym: "cat-eye syndrome (Type I)" EXACT [DECIPHER:42] @@ -131141,6 +131746,7 @@ synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470] synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470] synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470] xref: DECIPHER:42 {source="MONDO:equivalentTo"} +xref: GARD:26 {source="Orphanet:195"} xref: ICD10CM:Q92.8 {source="Orphanet:195", source="Orphanet:195/attributed", source="Orphanet:195/ntbt"} xref: MESH:C535918 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: NCIT:C75477 {source="MONDO:equivalentTo"} @@ -131159,11 +131765,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/26/cat-eye-s id: MONDO:0007277 name: cataract-aberrant oral frenula-growth delay syndrome def: "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." [Orphanet:1373] +subset: gard_rare {source="GARD:5554"} subset: ordo_malformation_syndrome {source="Orphanet:1373"} synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [OMIM:115645] synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GARD:0005554] synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554] synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373] +xref: GARD:5554 {source="Orphanet:1373"} xref: ICD10CM:Q87.8 {source="Orphanet:1373", source="Orphanet:1373/attributed", source="Orphanet:1373/ntbt"} xref: MESH:C536691 {source="MONDO:equivalentTo"} xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="Orphanet:1373/e"} @@ -131204,6 +131812,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0007279 name: cataract 7 def: "A cataract that has material basis in variation in the region 17q24." [DOID:0110260, PMID:7704021] +subset: gard_rare {source="GARD:15046"} synonym: "cataract 7" EXACT [MONDO:Lexical, OMIM:115660] synonym: "cataract 7, cerulean type" RELATED [OMIM:115660] synonym: "cataract type 7" EXACT [DOID:0110260, MONDORULE:1] @@ -131213,6 +131822,7 @@ synonym: "cerulean type cataract 7" NARROW [DOID:0110260] synonym: "congenital cerulean type cataract 1" NARROW [DOID:0110260] synonym: "CTRCT7" EXACT ABBREVIATION [DOID:0110260, MONDO:Lexical, OMIM:115660] xref: DOID:0110260 {source="MONDO:equivalentTo"} +xref: GARD:15046 {source="OMIM:115660"} xref: ICD10CM:Q12.0 {source="DOID:0110260"} xref: OMIM:115660 {source="DOID:0110260", source="MONDO:equivalentTo"} xref: Orphanet:217052 {source="OMIM:115660"} @@ -131246,6 +131856,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0007281 name: cataract 4 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:1144"} synonym: "cataract (disease) caused by mutation in CRYGD" EXACT [] synonym: "cataract 4 multiple types with or without microcornea" EXACT [DOID:0110234] synonym: "cataract 4, multiple types" RELATED [MONDO:Lexical, OMIM:115700] @@ -131259,6 +131870,7 @@ synonym: "congenital cataract cerulean type 3" NARROW [DOID:0110234] synonym: "CRYGD cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CTRCT4" EXACT ABBREVIATION [DOID:0110234, MONDO:Lexical, OMIM:115700] xref: DOID:0110234 {source="MONDO:equivalentTo"} +xref: GARD:1144 {source="OMIM:115700"} xref: ICD10CM:Q12.0 {source="DOID:0110234"} xref: OMIM:115700 {source="MONDO:equivalentTo", source="DOID:0110234"} xref: Orphanet:217052 {source="OMIM:115700"} @@ -131282,12 +131894,14 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0007282 name: cataract 29 def: "A cataract that has material basis in variation in the region 2pter-p24." [DOID:0110232, PMID:15933805] +subset: gard_rare {source="GARD:18233"} synonym: "cataract 29" EXACT [MONDO:Lexical, OMIM:115800] synonym: "cataract 29 coralliform" EXACT [DOID:0110232] synonym: "cataract 29, coralliform" RELATED [OMIM:115800] synonym: "cataract type 29" EXACT [DOID:0110232, MONDORULE:2] synonym: "CTRCT29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115800] xref: DOID:0110232 {source="MONDO:equivalentTo"} +xref: GARD:18233 {source="OMIM:115800"} xref: ICD10CM:Q12.0 {source="DOID:0110232"} xref: OMIM:115800 {source="MONDO:equivalentTo", source="DOID:0110232"} xref: Orphanet:91492 {source="OMIM:115800"} @@ -131347,6 +131961,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0007285 name: cataract 1 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15047"} synonym: "CAE1" NARROW ABBREVIATION [DOID:0110231] synonym: "cataract (disease) caused by mutation in GJA8" EXACT [] synonym: "cataract 1, multiple types" RELATED [MONDO:Lexical, OMIM:116200] @@ -131359,6 +131974,7 @@ synonym: "Duffy linked cataract" EXACT [DOID:0110231] synonym: "GJA8 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "zonular pulverulent cataract 1" NARROW [DOID:0110231] xref: DOID:0110231 {source="MONDO:equivalentTo"} +xref: GARD:15047 {source="OMIM:116200"} xref: ICD10CM:Q12.0 {source="DOID:0110231"} xref: MESH:C566158 {source="MONDO:equivalentTo"} xref: OMIM:116200 {source="MONDO:equivalentTo", source="DOID:0110231"} @@ -131407,6 +132023,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0007287 name: cataract 41 def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18234"} synonym: "cataract 41" EXACT [MONDO:Lexical, OMIM:116400] synonym: "cataract 41, congenital nuclear type" RELATED [OMIM:116400] synonym: "cataract type 41" EXACT [DOID:0110241, MONDORULE:2, OMIM:116400] @@ -131415,6 +132032,7 @@ synonym: "CTRCT41" EXACT ABBREVIATION [DOID:0110241, MONDO:Lexical, OMIM:116400] synonym: "early-onset non-syndromic cataract caused by mutation in WFS1" EXACT [MONDO:design_pattern] synonym: "WFS1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110241 {source="MONDO:equivalentTo"} +xref: GARD:18234 {source="OMIM:116400"} xref: ICD10CM:Q12.0 {source="DOID:0110241"} xref: OMIM:116400 {source="MONDO:equivalentTo", source="DOID:0110241"} xref: Orphanet:91492 {source="OMIM:116400"} @@ -131525,6 +132143,7 @@ replaced_by: MONDO:0004914 id: MONDO:0007293 name: leukocyte adhesion deficiency 1 def: "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." [Orphanet:99842] +subset: gard_rare {source="GARD:6893"} subset: ordo_clinical_subtype {source="Orphanet:99842"} synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920] @@ -131546,6 +132165,7 @@ synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910] synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920] xref: DOID:0110910 {source="MONDO:equivalentTo"} +xref: GARD:6893 {source="Orphanet:99842"} xref: ICD10CM:D84.8 {source="Orphanet:99842/attributed", source="Orphanet:99842/ntbt", source="Orphanet:99842"} xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"} xref: NCIT:C4689 {source="MONDO:equivalentTo"} @@ -131567,6 +132187,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007294 name: central core myopathy def: "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." [NCIT:P378] +subset: gard_rare {source="GARD:6014"} subset: ordo_disease {source="Orphanet:597"} synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117000] synonym: "Cco" RELATED [OMIM:117000] @@ -131584,6 +132205,7 @@ synonym: "neuromuscular disease, congenital, with uniform type 1 Fibre" RELATED synonym: "Shy-Magee syndrome" RELATED [GARD:0006014] xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"} xref: EFO:1000855 {source="MONDO:equivalentTo"} +xref: GARD:6014 {source="Orphanet:597"} xref: ICD10CM:G71.2 {source="Orphanet:597/ntbt", source="DOID:3529", source="Orphanet:597/inclusion", source="Orphanet:597"} xref: MESH:D020512 {source="MONDO:equivalentTo", source="DOID:3529", source="EFO:1000855"} xref: NCIT:C83010 {source="MONDO:equivalentTo", source="DOID:3529"} @@ -131609,7 +132231,7 @@ id: MONDO:0007295 name: childhood epilepsy with centrotemporal spikes def: "A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." [https://epilepsydiagnosis.org/syndrome/ects-overview.html] comment: Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time. -subset: gard_rare +subset: gard_rare {source="GARD:10287"} subset: ordo_disease {source="Orphanet:1945"} synonym: "BCECTS" EXACT DEPRECATED [DOID:3329, Wikipedia:Rolandic_epilepsy] synonym: "BECRS" EXACT ABBREVIATION [Orphanet:1945] @@ -131632,6 +132254,7 @@ synonym: "Rolandic epilepsy" EXACT DEPRECATED [DOID:3329] synonym: "sylvan seizures" EXACT [DOID:3329] synonym: "temporal-central focal epilepsy" EXACT [OMIM:117100] xref: DOID:3329 {source="MONDO:equivalentTo"} +xref: GARD:10287 {source="Orphanet:1945"} xref: ICD10CM:G40.0 {source="Orphanet:1945", source="Orphanet:1945/attributed", source="Orphanet:1945/ntbt"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019305 {source="DOID:3329"} @@ -131658,6 +132281,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10287/benign id: MONDO:0007296 name: spinocerebellar ataxia type 31 def: "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." [Orphanet:217012] +subset: gard_rare {source="GARD:9975"} subset: ordo_disease {source="Orphanet:217012"} synonym: "SCA31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117210, Orphanet:217012] synonym: "spinocerebellar ataxia 16q22-linked" RELATED [GARD:0009975] @@ -131665,6 +132289,7 @@ synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical, OMIM:117210] synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210] synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210] xref: DOID:0050980 {source="MONDO:equivalentTo"} +xref: GARD:9975 {source="Orphanet:217012"} xref: ICD10CM:G11.8 {source="Orphanet:217012", source="Orphanet:217012/attributed", source="Orphanet:217012/ntbt"} xref: MESH:C566146 {source="MONDO:equivalentTo"} xref: NCIT:C176901 {source="MONDO:equivalentTo"} @@ -131681,6 +132306,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0007297 name: ADan amyloidosis def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070030] +subset: gard_rare {source="GARD:9169"} subset: ordo_clinical_subtype {source="Orphanet:97346"} synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030] synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [OMIM:117300] @@ -131694,6 +132320,7 @@ synonym: "Heredopathia Ophthalmootoencephalica" EXACT [DOID:0070030, OMIM:117300 synonym: "HOOE" EXACT ABBREVIATION [DOID:0070030] synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030] xref: DOID:0070030 {source="MONDO:equivalentTo"} +xref: GARD:9169 {source="Orphanet:97346"} xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} xref: MESH:C538209 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e"} @@ -131709,6 +132336,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007298 name: spinocerebellar ataxia type 29 def: "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." [Orphanet:208513] +subset: gard_rare {source="GARD:10480"} subset: ordo_disease {source="Orphanet:208513"} synonym: "ACV" RELATED ABBREVIATION [GARD:0010480] synonym: "aplasia of cerebellar vermis" RELATED [OMIM:117360] @@ -131721,6 +132349,7 @@ synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical, OMIM:117360] synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [OMIM:117360, OMIM:genemap2] synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360] xref: DOID:0050978 {source="MONDO:equivalentTo"} +xref: GARD:10480 {source="Orphanet:208513"} xref: ICD10CM:G11.0 {source="Orphanet:208513/attributed", source="Orphanet:208513/ntbt", source="Orphanet:208513"} xref: MESH:C537206 {source="MONDO:equivalentTo"} xref: OMIM:117360 {source="Orphanet:208513/e", source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513"} @@ -131735,6 +132364,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007299 name: obsolete Sotos syndrome 1 +xref: GARD:15048 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI is_obsolete: true @@ -131744,7 +132374,6 @@ replaced_by: MONDO:0019349 id: MONDO:0007300 name: cerebral sarcoma def: "A sarcoma involving a telencephalon." [MONDO:patterns/sarcoma] -subset: gard_rare {source="GARD:0010073"} synonym: "cerebral sarcoma" EXACT [OMIM:117600] synonym: "sarcoma of telencephalon" EXACT [MONDO:patterns/sarcoma] synonym: "telencephalon sarcoma" EXACT [MONDO:patterns/location] @@ -131761,6 +132390,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10073/cerebr id: MONDO:0007301 name: cerebrocostomandibular syndrome def: "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." [Orphanet:1393] +subset: gard_rare {source="GARD:6026"} subset: ordo_malformation_syndrome {source="Orphanet:1393"} synonym: "CCM syndrome" RELATED [GARD:0006026] synonym: "CCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117650] @@ -131769,6 +132399,7 @@ synonym: "CEREBROCOSTOMANDIBULAR syndrome" RELATED [OMIM:117650] synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650] synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650] xref: DOID:0111248 {source="MONDO:equivalentTo"} +xref: GARD:6026 {source="Orphanet:1393"} xref: ICD10CM:Q87.8 {source="Orphanet:1393/attributed", source="Orphanet:1393/ntbt", source="Orphanet:1393"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562538 {source="MONDO:equivalentTo"} @@ -131843,6 +132474,7 @@ property_value: IAO:0000589 "cervical vertebral dysplasia (disease)" xsd:string id: MONDO:0007306 name: Klippel-Feil syndrome 1, autosomal dominant def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15049"} synonym: "cervical vertebral fusion, autosomal dominant" RELATED [OMIM:118100] synonym: "GDF6 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF6" EXACT [MONDO:design_pattern] @@ -131851,6 +132483,7 @@ synonym: "KFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118100] synonym: "Klippel-FEIL syndrome 1, autosomal dominant" RELATED [OMIM:118100] synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [MONDO:Lexical, OMIM:118100] xref: DOID:0080589 {source="MONDO:equivalentTo"} +xref: GARD:15049 {source="OMIM:118100"} xref: MESH:C536887 {source="MONDO:equivalentTo"} xref: OMIM:118100 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:118100"} @@ -131863,6 +132496,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007307 name: Charcot-Marie-Tooth disease type 1B def: "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." [OMIM:118200] +subset: gard_rare {source="GARD:1246"} subset: ordo_disease {source="Orphanet:101082"} synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [DOID:0110152] synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246] @@ -131886,6 +132520,7 @@ synonym: "HMSN1B" EXACT ABBREVIATION [DOID:0110152, OMIM:118200] synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "peroneal muscular atrophy" RELATED EXCLUDE [DOID:0110152] xref: DOID:0110152 {source="MONDO:equivalentTo"} +xref: GARD:1246 {source="Orphanet:101082"} xref: ICD10CM:G60.0 {source="DOID:0110152", source="Orphanet:101082/attributed", source="Orphanet:101082/ntbt", source="Orphanet:101082"} xref: NCIT:C118782 {source="MONDO:equivalentTo"} xref: OMIM:118200 {source="Orphanet:101082/e", source="MONDO:equivalentTo", source="DOID:0110152", source="Orphanet:101082"} @@ -131904,7 +132539,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007308 name: Charcot-Marie-Tooth disease type 2A1 def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." [Orphanet:99946] -subset: gard_rare +subset: gard_rare {source="GARD:1248"} subset: ordo_disease {source="Orphanet:99946"} subset: prototype_pattern synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [DOID:0110154] @@ -131934,6 +132569,7 @@ synonym: "HMSN IIa1" RELATED [OMIM:118210] synonym: "HMSN2A1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210] synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110154 {source="MONDO:equivalentTo"} +xref: GARD:1248 {source="Orphanet:99946"} xref: ICD10CM:G60.0 {source="Orphanet:99946", source="DOID:0110154", source="Orphanet:99946/attributed", source="Orphanet:99946/ntbt"} xref: MESH:C566138 {source="MONDO:equivalentTo"} xref: NCIT:C134952 {source="MONDO:equivalentTo"} @@ -131956,7 +132592,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1248/charcot id: MONDO:0007309 name: Charcot-Marie-Tooth disease type 1A def: "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." [https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a] -subset: gard_rare {source="GARD:0001245"} +subset: gard_rare {source="GARD:1245"} subset: ordo_disease {source="Orphanet:101081"} synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [DOID:0110148] synonym: "Charcot Marie Tooth disease type 1A" RELATED [GARD:0001245] @@ -131975,6 +132611,7 @@ synonym: "HMSN1A" EXACT ABBREVIATION [DOID:0110148, OMIM:118220] synonym: "microduplication 17p12" EXACT [DOID:0110148, Orphanet:101081] xref: DECIPHER:29 {source="MONDO:equivalentTo"} xref: DOID:0110148 {source="MONDO:equivalentTo"} +xref: GARD:1245 {source="Orphanet:101081"} xref: ICD10CM:G60.0 {source="DOID:0110148", source="Orphanet:101081", source="Orphanet:101081/attributed", source="Orphanet:101081/ntbt"} xref: NCIT:C75468 {source="MONDO:equivalentTo"} xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="Orphanet:101081/e"} @@ -132003,6 +132640,7 @@ property_value: confidence "0.4999999999999998" xsd:double id: MONDO:0007311 name: Charcot-Marie-Tooth disease type 1E def: "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." [Orphanet:90658] +subset: gard_rare {source="GARD:9190"} subset: ordo_disease {source="Orphanet:90658"} synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [DOID:0110153] synonym: "Charcot Marie Tooth disease type 1E" RELATED [GARD:0009190] @@ -132016,6 +132654,7 @@ synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELAT synonym: "CMT 1E" RELATED [GARD:0009190] synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658] xref: DOID:0110153 {source="MONDO:equivalentTo"} +xref: GARD:9190 {source="Orphanet:90658"} xref: ICD10CM:G60.0 {source="Orphanet:90658/attributed", source="Orphanet:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"} xref: MESH:C537986 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} xref: MESH:C538078 {source="Orphanet:90658/e", source="Orphanet:90658"} @@ -132043,9 +132682,10 @@ is_a: MONDO:0015626 {source="MESH:C538079/inferred"} ! Charcot-Marie-Tooth disea id: MONDO:0007313 name: cheilitis glandularis def: "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." [Orphanet:1221] -subset: gard_rare {source="GARD:0000412"} +subset: gard_rare {source="GARD:412"} subset: ordo_disease {source="Orphanet:1221"} synonym: "cheilitis glandularis" EXACT [OMIM:118330] +xref: GARD:412 {source="Orphanet:1221"} xref: ICD10CM:K13.0 {source="Orphanet:1221/ntbt", source="Orphanet:1221"} xref: MESH:C535921 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"} xref: OMIM:118330 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"} @@ -132072,7 +132712,7 @@ id: MONDO:0007315 name: cherubism def: "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." [Orphanet:184] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) -subset: gard_rare {source="GARD:0006036"} +subset: gard_rare {source="GARD:6036"} subset: ordo_malformation_syndrome {source="Orphanet:184"} synonym: "cherubism" EXACT [OMIM:118400] synonym: "CRBM" EXACT ABBREVIATION [Orphanet:184] @@ -132080,6 +132720,7 @@ synonym: "Crbm" RELATED [OMIM:118400] synonym: "familial fibrous dysplasia of the jaws" EXACT [NCIT:C84630] synonym: "familial multilocular cystic disease of the jaws" EXACT [NCIT:C84630] xref: DOID:1856 {source="MONDO:equivalentTo"} +xref: GARD:6036 {source="Orphanet:184"} xref: ICD10CM:M27.8 {source="DOID:1856"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070535 {source="Orphanet:184", source="Orphanet:184/e"} @@ -132108,6 +132749,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6036/cherubi id: MONDO:0007316 name: Chiari malformation type I def: "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." [Orphanet:268882] +subset: gard_rare {source="GARD:9233"} subset: ordo_morphological_anomaly {source="Orphanet:268882"} synonym: "Arnold-Chiari malformation type 1" EXACT [Orphanet:268882] synonym: "Arnold-Chiari malformation type I" EXACT [Orphanet:268882] @@ -132116,6 +132758,7 @@ synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420] synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882] synonym: "Cm1" RELATED [OMIM:118420] synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420] +xref: GARD:9233 {source="Orphanet:268882"} xref: ICD10CM:G95.0 {source="Orphanet:268882", source="Orphanet:268882/attributed", source="Orphanet:268882/ntbt"} xref: MedDRA:10056944 {source="Orphanet:268882", source="Orphanet:268882/e"} xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="Orphanet:268882/e"} @@ -132145,6 +132788,7 @@ id: MONDO:0007318 name: Alagille syndrome def: "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." [Orphanet:52] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:804"} subset: ordo_malformation_syndrome {source="Orphanet:52"} synonym: "Alagille syndrome" EXACT [OMIM:118450] synonym: "Alagille-Watson syndrome" EXACT [DOID:9245, Orphanet:52] @@ -132157,6 +132801,7 @@ synonym: "syndromic bile duct paucity" EXACT [Orphanet:52] synonym: "Watson Alagille syndrome" RELATED [GARD:0000804] synonym: "Watson-Miller syndrome" RELATED [GARD:0000804] xref: DOID:9245 {source="MONDO:equivalentTo"} +xref: GARD:804 {source="Orphanet:52"} xref: ICD10CM:Q44.7 {source="Orphanet:52/ntbt", source="DOID:9245", source="Orphanet:52/inclusion", source="Orphanet:52"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053870 {source="Orphanet:52/e", source="Orphanet:52"} @@ -132181,6 +132826,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007319 name: chondrocalcinosis 2 def: "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." [Orphanet:1416] +subset: gard_rare {source="GARD:1292"} subset: ordo_disease {source="Orphanet:1416"} synonym: "calcium gout" RELATED [OMIM:118600] synonym: "calcium gout, familial" RELATED [GARD:0001292] @@ -132203,6 +132849,7 @@ synonym: "hereditary articular chondrocalcinosis" EXACT [Orphanet:1416] synonym: "hereditary calcium pyrophosphate deposition" EXACT [Orphanet:1416] synonym: "hereditary CC" EXACT [Orphanet:1416] synonym: "Pseudogout, familial" RELATED [GARD:0001292] +xref: GARD:1292 {source="Orphanet:1416"} xref: ICD10CM:M11.1 {source="Orphanet:1416/e", source="Orphanet:1416/specific", source="Orphanet:1416"} xref: MESH:C563162 {source="MONDO:equivalentTo"} xref: OMIM:118600 {source="Orphanet:1416/e", source="MONDO:equivalentTo", source="Orphanet:1416"} @@ -132221,7 +132868,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007320 name: chondrocalcinosis due to apatite crystal deposition -subset: gard_rare {source="GARD:0010139"} synonym: "chondrocalcinosis due to apatite crystal deposition" EXACT [OMIM:118610] synonym: "familial apatite disease" RELATED [OMIM:118610] xref: MESH:C535939 {source="MONDO:equivalentTo"} @@ -132235,7 +132881,6 @@ id: MONDO:0007321 name: autosomal dominant chondrodysplasia punctata alt_id: MONDO:0022728 def: "Autosomal dominant form of chondrodysplasia punctata." [MONDO:patterns/autosomal_dominant] -subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79344"} synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [OMIM:118650] synonym: "chondrodysplasia punctata due to warfarin teratogenicity" RELATED [OMIM:118650] @@ -132260,9 +132905,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1298/chondro [Term] id: MONDO:0007322 name: chondrodysplasia punctata, tibial-metacarpal type +subset: gard_rare {source="GARD:16715"} subset: ordo_malformation_syndrome {source="Orphanet:79346"} synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651] synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651] +xref: GARD:16715 {source="Orphanet:79346"} xref: ICD10CM:Q77.3 {source="Orphanet:79346/attributed", source="Orphanet:79346/ntbt", source="Orphanet:79346"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562961 {source="MONDO:equivalentTo"} @@ -132370,10 +133017,12 @@ property_value: confidence "3.0" xsd:double id: MONDO:0007330 name: congenital pseudoarthrosis of clavicle def: "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." [Orphanet:66630] +subset: gard_rare {source="GARD:16673"} subset: ordo_disease {source="Orphanet:66630"} synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980] synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630] synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630] +xref: GARD:16673 {source="Orphanet:66630"} xref: ICD10CM:Q74.0 {source="Orphanet:66630/ntbt", source="Orphanet:66630/inclusion", source="Orphanet:66630"} xref: MESH:C562548 {source="MONDO:equivalentTo"} xref: OMIM:118980 {source="Orphanet:66630/e", source="MONDO:equivalentTo", source="Orphanet:66630"} @@ -132407,6 +133056,7 @@ consider: HP:0400001 [Term] id: MONDO:0007332 name: split-hand/foot malformation with long bone deficiency 1 +subset: gard_rare {source="GARD:15050"} synonym: "aplasia of tibia with ectrodactyly" RELATED [MESH:C536425, OMIM:119100] synonym: "cleft hand absent tibia" RELATED [MESH:C536425] synonym: "cleft hand and absent tibia" RELATED [MESH:C536425, OMIM:119100] @@ -132418,6 +133068,7 @@ synonym: "split-hand/foot malformation with long bone deficiency" RELATED [MESH: synonym: "split-hand/foot malformation with long bone deficiency 1" EXACT [MESH:C536425, MONDO:Lexical, OMIM:119100] synonym: "tibial aplasia with split-hand-split-foot deformity" RELATED [MESH:C536425] synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [MESH:C536425, OMIM:119100] +xref: GARD:15050 {source="OMIM:119100"} xref: MESH:C536425 {source="MONDO:equivalentTo"} xref: OMIM:119100 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="OMIM:119100"} @@ -132452,6 +133103,7 @@ id: MONDO:0007334 name: autosomal dominant popliteal pterygium syndrome def: "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." [Orphanet:1300] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163). +subset: gard_rare {source="GARD:3242"} subset: ordo_malformation_syndrome {source="Orphanet:1300"} synonym: "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies" RELATED [GARD:0003242] synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [OMIM:119500] @@ -132462,6 +133114,7 @@ synonym: "popliteal pterygium syndrome 1" EXACT [OMIM:119500, OMIM:genemap2] synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "popliteal web syndrome" EXACT [Orphanet:1300] synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500] +xref: GARD:3242 {source="Orphanet:1300"} xref: ICD10CM:Q87.2 {source="Orphanet:1300/attributed", source="Orphanet:1300/ntbt", source="Orphanet:1300"} xref: OMIM:119500 {source="Orphanet:1300", source="MONDO:equivalentTo", source="Orphanet:1300/e"} xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"} @@ -132503,7 +133156,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007336 name: isolated cleft palate def: "A cleft palate that is not part of a larger syndrome." [MONDO:patterns/isolated] -subset: gard_rare synonym: "cleft palate" RELATED [OMIM:119540] synonym: "cleft palate, isolated" RELATED [MONDO:Lexical, OMIM:119540] synonym: "CPI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119540] @@ -132532,7 +133184,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1896/dominan id: MONDO:0007337 name: cleft palate-lateral synechia syndrome def: "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." [Orphanet:2016] -subset: gard_rare {source="GARD:0001391"} +subset: gard_rare {source="GARD:1391"} subset: ordo_malformation_syndrome {source="Orphanet:2016"} synonym: "cleft palate lateral synechia syndrome" RELATED [GARD:0001391] synonym: "cleft palate-lateral synechia syndrome" EXACT [OMIM:119550] @@ -132540,6 +133192,7 @@ synonym: "CPLS syndrome" EXACT [Orphanet:2016] synonym: "Cpls syndrome" RELATED [OMIM:119550] synonym: "syngnathia" RELATED [OMIM:119550] xref: DOID:0080313 {source="MONDO:equivalentTo"} +xref: GARD:1391 {source="Orphanet:2016"} xref: ICD10CM:Q87.8 {source="Orphanet:2016/attributed", source="Orphanet:2016/ntbt", source="Orphanet:2016"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563047 {source="MONDO:equivalentTo"} @@ -132555,12 +133208,15 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1391/cleft-p id: MONDO:0007338 name: cleft soft palate def: "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." [Orphanet:99772] +subset: gard_rare {source="GARD:18243", source="GARD:16907"} subset: ordo_morphological_anomaly {source="Orphanet:99772"} synonym: "cleft soft palate" EXACT [OMIM:119570, Orphanet:99772] synonym: "cleft velum" EXACT [DOID:0110214] synonym: "cleft velum palatinum" EXACT [DOID:0110214, Orphanet:99772] synonym: "soft cleft palate" EXACT [DOID:0110214] xref: DOID:0110214 {source="MONDO:equivalentTo"} +xref: GARD:16907 {source="Orphanet:99772"} +xref: GARD:18243 {source="OMIM:119570"} xref: ICD10CM:Q35.3 {source="DOID:0110214", source="Orphanet:99772/e", source="MONDO:equivalentTo", source="Orphanet:99772"} xref: MESH:C562950 {source="MONDO:equivalentTo"} xref: OMIM:119570 {source="DOID:0110214", source="MONDO:equivalentTo", source="Orphanet:99772/btnt", source="Orphanet:99772"} @@ -132575,7 +133231,7 @@ property_value: confidence "0.22222222222222254" xsd:double id: MONDO:0007339 name: blepharocheilodontic syndrome def: "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." [Orphanet:1997] -subset: gard_rare +subset: gard_rare {source="GARD:2071"} subset: ordo_malformation_syndrome {source="Orphanet:1997"} subset: prototype_pattern synonym: "BCD syndrome" EXACT [Orphanet:1997] @@ -132596,6 +133252,7 @@ synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580] synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580] synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: DOID:0080344 {source="MONDO:equivalentTo"} +xref: GARD:2071 {source="Orphanet:1997"} xref: ICD10CM:Q87.8 {source="Orphanet:1997", source="Orphanet:1997/attributed", source="Orphanet:1997/ntbt"} xref: MESH:C536188 {source="MONDO:equivalentTo"} xref: OMIMPS:119580 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080344"} @@ -132615,6 +133272,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2071/ectropi id: MONDO:0007340 name: cleidocranial dysplasia 1 def: "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." [https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia] +subset: gard_rare {source="GARD:6118"} subset: ordo_malformation_syndrome {source="Orphanet:1452"} synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119600] synonym: "CLCD" RELATED ABBREVIATION [GARD:0006118] @@ -132625,6 +133283,7 @@ synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [OM synonym: "dysplasia cleidocranial" RELATED [GARD:0006118] synonym: "Marie-Sainton disease" EXACT [DOID:13994] xref: DOID:13994 {source="MONDO:equivalentTo"} +xref: GARD:6118 {source="Orphanet:1452"} xref: ICD10CM:Q74.0 {source="Orphanet:1452/ntbt", source="Orphanet:1452", source="DOID:13994", source="Orphanet:1452/inclusion"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002973 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"} @@ -132646,7 +133305,7 @@ property_value: confidence "0.2368583797155226" xsd:double id: MONDO:0007341 name: cleidorhizomelic syndrome def: "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." [Orphanet:1453] -subset: gard_rare {source="GARD:0005532"} +subset: gard_rare {source="GARD:5532"} subset: ordo_malformation_syndrome {source="Orphanet:1453"} synonym: "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle" RELATED [GARD:0005532] synonym: "cleido rhizomelic syndrome" RELATED [GARD:0005532] @@ -132654,6 +133313,7 @@ synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650] synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453] synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532] synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453] +xref: GARD:5532 {source="Orphanet:1453"} xref: ICD10CM:Q77.8 {source="Orphanet:1453", source="Orphanet:1453/attributed", source="Orphanet:1453/ntbt"} xref: MESH:C536428 {source="MONDO:equivalentTo"} xref: OMIM:119650 {source="Orphanet:1453", source="MONDO:equivalentTo", source="Orphanet:1453/e"} @@ -132714,12 +133374,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007343 name: isolated congenital digital clubbing def: "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." [Orphanet:217059] +subset: gard_rare {source="GARD:17117"} subset: ordo_morphological_anomaly {source="Orphanet:217059"} synonym: "acropachy, hereditary" RELATED [OMIM:119900] synonym: "clubbing of digits" RELATED [OMIM:119900] synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900] synonym: "isolated congenital acropachy" EXACT [Orphanet:217059] synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059] +xref: GARD:17117 {source="Orphanet:217059"} xref: ICD10CM:Q68.1 {source="Orphanet:217059/ntbt", source="Orphanet:217059/inclusion", source="Orphanet:217059"} xref: OMIM:119900 {source="Orphanet:217059/e", source="MONDO:equivalentTo", source="Orphanet:217059"} xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"} @@ -132749,11 +133411,13 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0007345 name: aorta coarctation def: "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." [NCIT:C84567] +subset: gard_rare {source="GARD:5828"} subset: ordo_morphological_anomaly {source="Orphanet:1457"} synonym: "aortic coarctation" EXACT [NCIT:C84567] synonym: "coarctation of aorta" RELATED [OMIM:120000] synonym: "coarctation of the aorta" RELATED [GARD:0005828] xref: EFO:1001267 {source="MONDO:equivalentTo"} +xref: GARD:5828 {source="Orphanet:1457"} xref: ICD10CM:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: ICD9:747.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10009807 {source="Orphanet:1457", source="Orphanet:1457/e"} @@ -132777,12 +133441,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007346 name: cochleosaccular degeneration-cataract syndrome def: "Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." [Orphanet:3233] -subset: gard_rare +subset: gard_rare {source="GARD:9418"} subset: ordo_malformation_syndrome {source="Orphanet:3233"} synonym: "Cochleosaccular Degeneration" RELATED [MESH:C536432] synonym: "Cochleosaccular degeneration of the inner ear and progressive cataracts" RELATED [GARD:0009418] synonym: "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" RELATED [MESH:C536432] synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040] +xref: GARD:9418 {source="Orphanet:3233"} xref: MESH:C536432 {source="MONDO:equivalentTo"} xref: OMIM:120040 {source="Orphanet:3233", source="GARD:0009418", source="MONDO:equivalentTo", source="Orphanet:3233/e"} xref: Orphanet:3233 {source="OMIM:120040", source="MONDO:equivalentTo"} @@ -132817,6 +133482,7 @@ is_obsolete: true id: MONDO:0007349 name: familial cold autoinflammatory syndrome 1 def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15051"} synonym: "cold hypersensitivity" RELATED [OMIM:120100] synonym: "cold urticaria, familial" RELATED [OMIM:120100] synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100] @@ -132829,6 +133495,7 @@ synonym: "Fcas" RELATED [OMIM:120100] synonym: "FCAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120100] synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090062 {source="MONDO:equivalentTo"} +xref: GARD:15051 {source="OMIM:120100"} xref: ICD10CM:L50.2 {source="DOID:0090062"} xref: OMIM:120100 {source="DOID:0090062", source="MONDO:equivalentTo"} xref: Orphanet:47045 {source="DOID:0090062", source="OMIM:120100"} @@ -132861,11 +133528,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007351 name: coloboma of macula def: "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." [Orphanet:98945] +subset: gard_rare {source="GARD:1436"} subset: ordo_morphological_anomaly {source="Orphanet:98945"} synonym: "agenesis of macula" RELATED [OMIM:120300] synonym: "coloboma of macula" EXACT [OMIM:120300] synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436] synonym: "macular coloboma" RELATED [GARD:0001436] +xref: GARD:1436 {source="Orphanet:98945"} xref: ICD10CM:Q14.8 {source="Orphanet:98945", source="Orphanet:98945/attributed", source="Orphanet:98945/ntbt"} xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="Orphanet:98945/w"} xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"} @@ -132878,7 +133547,7 @@ property_value: confidence "0.045454545454545636" xsd:double id: MONDO:0007352 name: renal coloboma syndrome def: "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." [Orphanet:1475] -subset: gard_rare {source="GARD:0004106"} +subset: gard_rare {source="GARD:4106"} subset: ordo_malformation_syndrome {source="Orphanet:1475"} synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006] synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, Orphanet:1475] @@ -132894,6 +133563,7 @@ synonym: "PAPRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120330] synonym: "renal-coloboma syndrome" RELATED [OMIM:120330] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330] xref: DOID:0090006 {source="MONDO:equivalentTo"} +xref: GARD:4106 {source="Orphanet:1475"} xref: ICD10CM:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="Orphanet:1475/attributed", source="Orphanet:1475/ntbt", source="DOID:0090006"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537168 {source="MONDO:equivalentTo"} @@ -132914,10 +133584,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4106/renal-c id: MONDO:0007353 name: coloboma of macula-brachydactyly type B syndrome def: "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." [Orphanet:1471] +subset: gard_rare {source="GARD:1437"} subset: ordo_malformation_syndrome {source="Orphanet:1471"} synonym: "apical dystrophy" RELATED [OMIM:120400] synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400] synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471] +xref: GARD:1437 {source="Orphanet:1471"} xref: ICD10CM:Q87.1 {source="Orphanet:1471/attributed", source="Orphanet:1471/ntbt", source="Orphanet:1471"} xref: MESH:C535969 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} xref: OMIM:120400 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} @@ -132930,6 +133602,7 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0007354 name: coloboma of optic nerve +subset: gard_rare {source="GARD:1438"} subset: ordo_morphological_anomaly {source="Orphanet:98947"} synonym: "coloboma of optic disc" RELATED OMO:0003005 [] synonym: "coloboma of optic disk" RELATED EXCLUDE [DOID:11975] @@ -132940,6 +133613,7 @@ synonym: "morning glory Disc anomaly" RELATED [OMIM:120430] synonym: "optic nerve coloboma" EXACT [GARD:0008502] synonym: "optic nerve head pits, bilateral congenital" RELATED [OMIM:120430] xref: DOID:11975 {source="MONDO:equivalentTo"} +xref: GARD:1438 {source="Orphanet:98947"} xref: HP:0000588 {source="MONDO:otherHierarchy"} xref: ICD10CM:H47.31 {source="DOID:11975"} xref: ICD10CM:H47.319 {source="DOID:11975"} @@ -132968,6 +133642,7 @@ property_value: IAO:0000589 "coloboma of optic nerve (disease)" xsd:string id: MONDO:0007355 name: uveal coloboma-cleft lip and palate-intellectual disability def: "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." [Orphanet:1473] +subset: gard_rare {source="GARD:1440"} subset: ordo_malformation_syndrome {source="Orphanet:1473"} synonym: "COB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433] synonym: "coloboma, cleft lip/palate and intellectual disability syndrome" RELATED [GARD:0001440] @@ -132980,6 +133655,7 @@ synonym: "uveal coloboma-cleft lip and palate-intellectual disability" EXACT CLI synonym: "uveal coloboma-cleft lip/palate-intellectual disability syndrome" RELATED [GARD:0001440] synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] xref: DOID:0111249 {source="MONDO:equivalentTo"} +xref: GARD:1440 {source="Orphanet:1473"} xref: ICD10CM:Q12.2 {source="Orphanet:1473", source="Orphanet:1473/attributed", source="Orphanet:1473/ntbt"} xref: MESH:C535971 {source="MONDO:equivalentTo"} xref: OMIM:120433 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"} @@ -132998,6 +133674,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007356 name: Lynch syndrome 1 def: "Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15052"} synonym: "COCA1" RELATED ABBREVIATION [OMIM:120435] synonym: "colon cancer, familial nonpolyposis, type 1" RELATED [OMIM:120435] synonym: "colorectal cancer, hereditary nonpolyposis, type 1" RELATED [OMIM:120435] @@ -133011,6 +133688,7 @@ synonym: "Lynch syndrome 2" RELATED [OMIM:120435] synonym: "LYNCH syndrome I" RELATED [OMIM:120435] synonym: "Lynch syndrome type 1" EXACT [MONDORULE:1, OMIM:120435] xref: DOID:0070271 {source="MONDO:equivalentTo"} +xref: GARD:15052 {source="OMIM:120435"} xref: MESH:C537261 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C6725 {source="MONDO:equivalentTo"} xref: OMIM:120435 {source="MONDO:equivalentTo"} @@ -133055,9 +133733,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007360 name: branchiootic syndrome 2 +subset: gard_rare {source="GARD:15053"} synonym: "bo syndrome 2" RELATED [OMIM:120502] synonym: "branchiootic syndrome 2" EXACT [OMIM:120502] synonym: "branchiootic syndrome type 2" EXACT [MONDORULE:1, OMIM:120502] +xref: GARD:15053 {source="OMIM:120502"} xref: MESH:C565171 {source="MONDO:equivalentTo"} xref: OMIM:120502 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:120502"} @@ -133088,6 +133768,7 @@ property_value: confidence "1.1504873407530516" xsd:double id: MONDO:0007362 name: cone-rod dystrophy 2 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:6145"} synonym: "cone-rod dystrophy" RELATED [OMIM:120970] synonym: "cone-rod dystrophy 2" EXACT [MONDO:Lexical, OMIM:120970] synonym: "cone-rod dystrophy caused by mutation in CRX" EXACT [MONDO:design_pattern] @@ -133102,6 +133783,7 @@ synonym: "RCRD2" EXACT ABBREVIATION [DOID:0111005] synonym: "retinal cone-rod dystrophy" RELATED [OMIM:120970] synonym: "retinal cone-rod dystrophy 2" EXACT [DOID:0111005] xref: DOID:0111005 {source="MONDO:equivalentTo"} +xref: GARD:6145 {source="OMIM:120970"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C162399 {source="MONDO:equivalentTo"} xref: OMIM:120970 {source="MONDO:equivalentTo", source="DOID:0111005"} @@ -133121,6 +133803,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007363 name: congenital contractural arachnodactyly def: "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." [Orphanet:115] +subset: gard_rare {source="GARD:5899"} subset: ordo_malformation_syndrome {source="Orphanet:115"} synonym: "arachnodactyly, contractural Beals type" RELATED [GARD:0005899] synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical, OMIM:121050] @@ -133134,6 +133817,7 @@ synonym: "DA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121050] synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115] synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899] xref: DOID:0111595 {source="MONDO:equivalentTo"} +xref: GARD:5899 {source="Orphanet:115"} xref: ICD10CM:Q68.8 {source="Orphanet:115", source="Orphanet:115/attributed", source="Orphanet:115/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} @@ -133192,6 +133876,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007366 name: seizures, benign familial neonatal, 2 def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15054"} synonym: "benign neonatal seizures caused by mutation in KCNQ3" EXACT [MONDO:design_pattern] synonym: "BFNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121201] synonym: "convulsions, benign familial neonatal, 2" RELATED [OMIM:121201] @@ -133199,6 +133884,7 @@ synonym: "KCNQ3 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:pat synonym: "seizures, benign familial neonatal, 2" EXACT [MONDO:Lexical, OMIM:121201] synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1, OMIM:121201] synonym: "seizures, benign neonatal, 2" EXACT [OMIM:121201, OMIM:genemap2] +xref: GARD:15054 {source="OMIM:121201"} xref: OMIM:121201 {source="MONDO:equivalentTo"} xref: Orphanet:1949 {source="OMIM:121201"} xref: UMLS:C1852581 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:121201"} @@ -133229,10 +133915,11 @@ is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! heredi id: MONDO:0007368 name: familial benign copper deficiency def: "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." [Orphanet:1551] -subset: gard_rare {source="GARD:0001522"} +subset: gard_rare {source="GARD:1522"} subset: ordo_disease {source="Orphanet:1551"} synonym: "copper deficiency, familial benign" RELATED [OMIM:121270] synonym: "familial benign hypocupremia" RELATED [GARD:0001522] +xref: GARD:1522 {source="Orphanet:1551"} xref: ICD10CM:E83.0 {source="Orphanet:1551/attributed", source="Orphanet:1551/ntbt", source="Orphanet:1551"} xref: MESH:C535468 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} xref: OMIM:121270 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} @@ -133247,7 +133934,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1522/copper- id: MONDO:0007369 name: hereditary coproporphyria def: "A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." [Orphanet:79273] -subset: gard_rare {source="GARD:0006619"} +subset: gard_rare {source="GARD:6619"} subset: ordo_disease {source="Orphanet:79273"} synonym: "coproporphyria" RELATED [GARD:0006619] synonym: "coproporphyria hereditary" RELATED [GARD:0006619] @@ -133264,6 +133951,7 @@ synonym: "hereditary coproporphyria porphyria" EXACT [DOID:13269] synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619] synonym: "porphyria hepatica II" RELATED [GARD:0006619] xref: DOID:13269 {source="MONDO:equivalentTo"} +xref: GARD:6619 {source="Orphanet:79273"} xref: ICD10CM:E80.2 {source="Orphanet:79273", source="Orphanet:79273/attributed", source="Orphanet:79273/ntbt"} xref: ICD10CM:E80.29 {source="DOID:13269"} xref: MedDRA:10019866 {source="Orphanet:79273", source="Orphanet:79273/e"} @@ -133305,9 +133993,11 @@ is_a: MONDO:0003847 {source="MESH:C535471/inferred"} ! hereditary disease [Term] id: MONDO:0007372 name: cornea plana 1, autosomal dominant +subset: gard_rare {source="GARD:18049"} synonym: "CNA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121400] synonym: "cornea plana 1" RELATED [MONDO:Lexical, OMIM:121400] synonym: "cornea plana 1, autosomal dominant" EXACT [OMIM:121400] +xref: GARD:18049 {source="OMIM:121400"} xref: MESH:C565158 {source="MONDO:equivalentTo"} xref: OMIM:121400 {source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="OMIM:121400"} @@ -133329,6 +134019,7 @@ is_a: MONDO:0003847 {source="MESH:C565157/inferred"} ! hereditary disease id: MONDO:0007374 name: Schnyder corneal dystrophy def: "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." [Orphanet:98967] +subset: gard_rare {source="GARD:9277"} subset: ordo_disease {source="Orphanet:98967"} synonym: "corneal dystrophy crystalline of Schnyder" EXACT [DOID:0060456] synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [OMIM:121800] @@ -133342,6 +134033,7 @@ synonym: "Schnyder corneal dystrophy" EXACT [MONDO:Lexical, OMIM:121800] synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:121800, Orphanet:98967] synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967] xref: DOID:0060456 {source="MONDO:equivalentTo"} +xref: GARD:9277 {source="Orphanet:98967"} xref: ICD10CM:H18.5 {source="Orphanet:98967", source="Orphanet:98967/attributed", source="Orphanet:98967/ntbt"} xref: MESH:C535475 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} xref: OMIM:121800 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} @@ -133358,6 +134050,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007375 name: epithelial basement membrane dystrophy +subset: gard_rare {source="GARD:9732"} subset: ordo_disease {source="Orphanet:98956"} synonym: "anterior basement membrane dystrophy" EXACT [Orphanet:98956] synonym: "Cogan corneal dystrophy" EXACT [DOID:0060447, OMIM:121820] @@ -133373,6 +134066,7 @@ synonym: "Map-dot-fingerprint dystrophy of cornea" RELATED [GARD:0009732] synonym: "microcystic corneal dystrophy" EXACT [DOID:0060447] synonym: "microcystic dystrophy of the cornea" RELATED [GARD:0009732] xref: DOID:0060447 {source="MONDO:equivalentTo"} +xref: GARD:9732 {source="Orphanet:98956"} xref: ICD10CM:H18.5 {source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/attributed", source="Orphanet:98956/ntbt"} xref: MESH:C535477 {source="MONDO:equivalentTo", source="DOID:0060447"} xref: OMIM:121820 {source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/e"} @@ -133388,6 +134082,7 @@ property_value: confidence "6.499999999999996" xsd:double id: MONDO:0007376 name: fleck corneal dystrophy def: "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." [Orphanet:98970] +subset: gard_rare {source="GARD:16879"} subset: ordo_disease {source="Orphanet:98970"} synonym: "Cfd" RELATED [OMIM:121850] synonym: "corneal dystrophy, FLECK" RELATED [OMIM:121850] @@ -133399,6 +134094,7 @@ synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448] synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] xref: DOID:0060448 {source="MONDO:equivalentTo"} +xref: GARD:16879 {source="Orphanet:98970"} xref: ICD10CM:H18.5 {source="Orphanet:98970/attributed", source="Orphanet:98970/ntbt", source="Orphanet:98970"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448"} @@ -133415,6 +134111,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007377 name: granular corneal dystrophy type I def: "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." [Orphanet:98962] +subset: gard_rare {source="GARD:9677"} subset: ordo_disease {source="Orphanet:98962"} synonym: "CDGG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121900] synonym: "classic GCD" EXACT [Orphanet:98962] @@ -133431,6 +134128,7 @@ synonym: "granular corneal dystrophy type 1" EXACT [Orphanet:98962] synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900] synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677] xref: DOID:0080530 {source="MONDO:equivalentTo"} +xref: GARD:9677 {source="Orphanet:98962"} xref: ICD10CM:H18.5 {source="Orphanet:98962/attributed", source="Orphanet:98962/ntbt", source="Orphanet:98962"} xref: MESH:C537304 {source="MONDO:equivalentTo"} xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="Orphanet:98962/e"} @@ -133445,6 +134143,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0007378 name: posterior polymorphous corneal dystrophy 1 def: "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." [DOID:0110855, PMID:26749309] +subset: gard_rare {source="GARD:18212"} synonym: "Ched1" EXACT [DOID:0110855] synonym: "corneal dystrophy, hereditary polymorphous posterior" RELATED [OMIM:122000] synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical, OMIM:122000] @@ -133457,6 +134156,7 @@ synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [DOID:0110855, synonym: "PPCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122000] synonym: "Ppcd1" EXACT [DOID:0110855] xref: DOID:0110855 {source="MONDO:equivalentTo"} +xref: GARD:18212 {source="OMIM:122000"} xref: ICD10CM:H18.50 {source="DOID:0110855"} xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:122000 {source="DOID:0110855", source="MONDO:equivalentTo"} @@ -133474,7 +134174,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007379 name: Meesmann corneal dystrophy def: "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." [Orphanet:98954] -subset: gard_rare {source="GARD:0009688"} +subset: gard_rare {source="GARD:9688"} subset: ordo_disease {source="Orphanet:98954"} synonym: "corneal dystrophy, juvenile epithelial of Meesmann" RELATED [GARD:0009688] synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [OMIM:122100] @@ -133489,6 +134189,7 @@ synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100] synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] xref: DOID:0060451 {source="MONDO:equivalentTo"} +xref: GARD:9688 {source="Orphanet:98954"} xref: ICD10CM:H18.5 {source="Orphanet:98954/attributed", source="Orphanet:98954/ntbt", source="Orphanet:98954"} xref: ICD10CM:H18.52 {source="DOID:0060451"} xref: ICD9:371.51 {source="DOID:0060451"} @@ -133508,6 +134209,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9688/meesman id: MONDO:0007380 name: lattice corneal dystrophy type I def: "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." [Orphanet:98964] +subset: gard_rare {source="GARD:9678"} subset: ordo_disease {source="Orphanet:98964"} synonym: "Biber-Haab-Dimmer dystrophy" EXACT [Orphanet:98964] synonym: "CDL1" RELATED ABBREVIATION [OMIM:122200] @@ -133519,6 +134221,7 @@ synonym: "lattice corneal dystrophy, type 1" RELATED [OMIM:122200] synonym: "LCD" RELATED ABBREVIATION [OMIM:122200] synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964] synonym: "LCDI" EXACT ABBREVIATION [Orphanet:98964] +xref: GARD:9678 {source="Orphanet:98964"} xref: ICD10CM:H18.5 {source="Orphanet:98964/attributed", source="Orphanet:98964/ntbt", source="Orphanet:98964"} xref: MESH:C537881 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} xref: OMIM:122200 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} @@ -133536,6 +134239,7 @@ property_value: confidence "10.74090909090909" xsd:double id: MONDO:0007381 name: epithelial recurrent erosion dystrophy def: "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." [Orphanet:293381] +subset: gard_rare {source="GARD:17338"} subset: ordo_disease {source="Orphanet:293381"} synonym: "corneal erosions, recurring hereditary" RELATED [OMIM:122400] synonym: "dystrophia Helsinglandica" EXACT [Orphanet:293381] @@ -133544,6 +134248,7 @@ synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122 synonym: "ERED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122400, Orphanet:293381] synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381] xref: DOID:0070337 {source="MONDO:equivalentTo"} +xref: GARD:17338 {source="Orphanet:293381"} xref: ICD10CM:H18.5 {source="Orphanet:293381/attributed", source="Orphanet:293381/ntbt", source="Orphanet:293381"} xref: MESH:C565155 {source="MONDO:equivalentTo"} xref: OMIM:122400 {source="Orphanet:293381", source="MONDO:equivalentTo", source="Orphanet:293381/e"} @@ -133558,6 +134263,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0007382 name: Ramos-Arroyo syndrome def: "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." [Orphanet:1051] +subset: gard_rare {source="GARD:4636"} subset: ordo_malformation_syndrome {source="Orphanet:1051"} synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED OMO:0003005 [] synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED OMO:0003005 [] @@ -133568,6 +134274,7 @@ synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [OMIM:122430] synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636] synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430] +xref: GARD:4636 {source="Orphanet:1051"} xref: ICD10CM:Q87.8 {source="Orphanet:1051/attributed", source="Orphanet:1051/ntbt", source="Orphanet:1051"} xref: MESH:C535286 {source="MONDO:equivalentTo"} xref: OMIM:122430 {source="Orphanet:1051/e", source="MONDO:equivalentTo", source="Orphanet:1051"} @@ -133584,6 +134291,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007383 name: Stern-Lubinsky-Durrie syndrome def: "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3194] +subset: gard_rare {source="GARD:1531"} subset: ordo_malformation_syndrome {source="Orphanet:3194"} synonym: "Cdo syndrome" RELATED [OMIM:122440] synonym: "corneal dystrophy epithelial and short stature" RELATED [GARD:0001531] @@ -133591,6 +134299,7 @@ synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194] synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440] synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531] +xref: GARD:1531 {source="Orphanet:3194"} xref: ICD10CM:H18.5 {source="Orphanet:3194", source="Orphanet:3194/attributed", source="Orphanet:3194/ntbt"} xref: MESH:C536444 {source="Orphanet:3194/e", source="Orphanet:3194"} xref: MESH:C537488 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} @@ -133610,11 +134319,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007384 name: congenital trigeminal anesthesia def: "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." [Orphanet:231013] +subset: gard_rare {source="GARD:10034"} subset: ordo_disease {source="Orphanet:231013"} synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450] synonym: "familial trigeminal anaesthesia" RELATED OMO:0003005 [] synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034] synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450] +xref: GARD:10034 {source="Orphanet:231013"} xref: ICD10CM:G50.8 {source="Orphanet:231013/attributed", source="Orphanet:231013/ntbt", source="Orphanet:231013"} xref: MESH:C536440 {source="MONDO:equivalentTo"} xref: OMIM:122450 {source="Orphanet:231013", source="MONDO:equivalentTo", source="Orphanet:231013/e"} @@ -133629,9 +134340,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007385 name: idiopathic spontaneous coronary artery dissection +subset: gard_rare {source="GARD:10822"} subset: ordo_disease {source="Orphanet:458718"} synonym: "coronary artery dissection, spontaneous" RELATED [OMIM:122455] synonym: "idiopathic SCAD" EXACT [Orphanet:458718] +xref: GARD:10822 {source="Orphanet:458718"} xref: ICD10CM:I25.4 {source="Orphanet:458718", source="Orphanet:458718/ntbt"} xref: MESH:C565153 {source="MONDO:equivalentTo"} xref: OMIM:122455 {source="MONDO:equivalentTo", source="Orphanet:458718", source="Orphanet:458718/e"} @@ -133685,12 +134398,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007388 name: congenitally short costocoracoid ligament def: "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." [Orphanet:2391] -subset: gard_rare {source="GARD:0001551"} +subset: gard_rare {source="GARD:1551"} subset: ordo_malformation_syndrome {source="Orphanet:2391"} synonym: "congenital shortness of the costocoracoid ligament" RELATED [GARD:0001551] synonym: "costocoracoid ligament congenitally short" RELATED [GARD:0001551] synonym: "costocoracoid ligament, congenitally short" RELATED [OMIM:122580] synonym: "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" RELATED [GARD:0001551] +xref: GARD:1551 {source="Orphanet:2391"} xref: ICD10CM:Q68.8 {source="Orphanet:2391", source="Orphanet:2391/ntbt"} xref: MESH:C536448 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"} xref: OMIM:122580 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"} @@ -133765,9 +134479,10 @@ property_value: IAO:0000589 "coxa vara (disease)" xsd:string id: MONDO:0007392 name: coxoauricular syndrome def: "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." [Orphanet:1508] -subset: gard_rare {source="GARD:0001558"} +subset: gard_rare {source="GARD:1558"} subset: ordo_malformation_syndrome {source="Orphanet:1508"} synonym: "coxoauricular syndrome" EXACT [OMIM:122780] +xref: GARD:1558 {source="Orphanet:1508"} xref: ICD10CM:Q87.1 {source="Orphanet:1508/attributed", source="Orphanet:1508/ntbt", source="Orphanet:1508"} xref: MESH:C565148 {source="MONDO:equivalentTo"} xref: OMIM:122780 {source="Orphanet:1508/e", source="MONDO:equivalentTo", source="Orphanet:1508"} @@ -133799,7 +134514,7 @@ replaced_by: MONDO:0009031 id: MONDO:0007395 name: craniofacial-deafness-hand syndrome def: "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." [Orphanet:1529] -subset: gard_rare {source="GARD:0001571"} +subset: gard_rare {source="GARD:1571"} subset: ordo_malformation_syndrome {source="Orphanet:1529"} synonym: "CDHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122880, Orphanet:1529] synonym: "craniofacial deafness hand syndrome" RELATED [GARD:0001571] @@ -133807,6 +134522,7 @@ synonym: "craniofacial-deafness-hand syndrome" EXACT [MONDO:Lexical, OMIM:122880 synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" RELATED [GARD:0001571] synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529] xref: DOID:0111336 {source="MONDO:equivalentTo"} +xref: GARD:1571 {source="Orphanet:1529"} xref: ICD10CM:Q87.0 {source="Orphanet:1529/attributed", source="Orphanet:1529/ntbt", source="Orphanet:1529"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536453 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} @@ -133825,6 +134541,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1571/craniof id: MONDO:0007396 name: dysostosis, Stanescu type def: "Stanescu type dysostosis is a rare form of osteosclerosis." [Orphanet:1798] +subset: gard_rare {source="GARD:2016"} subset: ordo_malformation_syndrome {source="Orphanet:1798"} synonym: "autosomal dominant osteosclerosis, Stanescu type" EXACT [Orphanet:1798] synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [OMIM:122900] @@ -133832,6 +134549,7 @@ synonym: "craniofacial dysostosis-diaphyseal hyperplasia syndrome" EXACT [Orphan synonym: "dysostosis Stanescu type" RELATED [GARD:0002016] synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900] synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798] +xref: GARD:2016 {source="Orphanet:1798"} xref: ICD10CM:Q78.8 {source="Orphanet:1798", source="Orphanet:1798/attributed", source="Orphanet:1798/ntbt"} xref: MESH:C562974 {source="MONDO:equivalentTo"} xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="Orphanet:1798/e"} @@ -133846,6 +134564,7 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0007397 name: craniometaphyseal dysplasia, autosomal dominant +subset: gard_rare {source="GARD:1581"} synonym: "CMD" RELATED ABBREVIATION [OMIM:123000] synonym: "CMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123000] synonym: "CMDJ" RELATED ABBREVIATION [GARD:0001581] @@ -133853,6 +134572,7 @@ synonym: "craniometaphyseal dysplasia Jackson type" RELATED [GARD:0001581] synonym: "craniometaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:123000] synonym: "craniometaphyseal dysplasia, Jackson type" RELATED [OMIM:123000] xref: DOID:0080801 {source="MONDO:equivalentTo"} +xref: GARD:1581 {source="OMIM:123000"} xref: MESH:C565145 {source="MONDO:equivalentTo"} xref: OMIM:123000 {source="MONDO:equivalentTo"} xref: Orphanet:1522 {source="OMIM:123000"} @@ -133865,8 +134585,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007398 name: craniorhiny +subset: gard_rare {source="GARD:16984"} subset: ordo_malformation_syndrome {source="Orphanet:157832"} synonym: "craniorhiny" EXACT [OMIM:123050] +xref: GARD:16984 {source="Orphanet:157832"} xref: ICD10CM:Q30.8 {source="Orphanet:157832", source="Orphanet:157832/ntbt"} xref: MESH:C565144 {source="MONDO:equivalentTo"} xref: OMIM:123050 {source="MONDO:equivalentTo", source="Orphanet:157832", source="Orphanet:157832/e"} @@ -133879,12 +134601,14 @@ property_value: confidence "8.375" xsd:double id: MONDO:0007399 name: TWIST1-related craniosynostosis def: "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:17343269] +subset: gard_rare {source="GARD:18045"} synonym: "craniostenosis" RELATED [OMIM:123100] synonym: "craniosynostosis 1" EXACT [MONDO:Lexical, OMIM:123100] synonym: "craniosynostosis type 1" EXACT [MONDORULE:1, OMIM:123100] synonym: "CRS" RELATED ABBREVIATION [OMIM:123100] synonym: "CRS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123100] synonym: "TWIST1-related craniosynostosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:18045 {source="OMIM:123100"} xref: OMIM:123100 {source="MONDO:equivalentTo"} xref: Orphanet:35093 {source="OMIM:123100"} xref: Orphanet:35099 {source="OMIM:123100"} @@ -133902,13 +134626,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007400 name: Jackson-Weiss syndrome def: "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." [Orphanet:1540] -subset: gard_rare {source="GARD:0006796"} +subset: gard_rare {source="GARD:6796"} subset: ordo_malformation_syndrome {source="Orphanet:1540"} synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [OMIM:123150] synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [Orphanet:1540] synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150] synonym: "JWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:123150, Orphanet:1540] xref: DOID:0111337 {source="MONDO:equivalentTo"} +xref: GARD:6796 {source="Orphanet:1540"} xref: ICD10CM:Q87.8 {source="Orphanet:1540/attributed", source="Orphanet:1540/ntbt", source="Orphanet:1540"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537559 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"} @@ -133926,7 +134651,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6796/jackson id: MONDO:0007401 name: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome def: "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." [Orphanet:1538] -subset: gard_rare +subset: gard_rare {source="GARD:998"} subset: ordo_malformation_syndrome {source="Orphanet:1538"} synonym: "Braddock Jones Superneau syndrome" RELATED [GARD:0000998] synonym: "Braddock-Jones-Superneau syndrome" EXACT [GARD:0001592, Orphanet:1538] @@ -133935,6 +134660,7 @@ synonym: "Dandy-Walker malformation with sagittal craniosynostosis and hydroceph synonym: "HDCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123155] synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155] synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592] +xref: GARD:998 {source="Orphanet:1538"} xref: ICD10CM:Q03.1 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"} xref: ICD10CM:Q75.0 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"} xref: MESH:C563973 {source="MONDO:equivalentTo"} @@ -133966,6 +134692,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007403 name: inherited Creutzfeldt-Jakob disease def: "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." [Orphanet:282166] +subset: gard_rare {source="GARD:17307"} subset: ordo_disease {source="Orphanet:282166"} synonym: "CJD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123400] synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical, OMIM:123400] @@ -133976,6 +134703,7 @@ synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [OMIM:123400, OMIM:genemap2] synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary] synonym: "inherited CJD" EXACT [Orphanet:282166] +xref: GARD:17307 {source="Orphanet:282166"} xref: ICD10CM:A81.0 {source="Orphanet:282166", source="Orphanet:282166/attributed", source="Orphanet:282166/ntbt"} xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="Orphanet:282166/e"} xref: Orphanet:204 {source="OMIM:123400"} @@ -134005,6 +134733,7 @@ id: MONDO:0007404 name: Cri-du-chat syndrome def: "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." [Orphanet:281] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:6213"} subset: ordo_malformation_syndrome {source="Orphanet:281"} synonym: "5p deletion syndrome" EXACT [DOID:12580, NCIT:C34518] synonym: "5p minus syndrome" RELATED [GARD:0006213] @@ -134023,6 +134752,7 @@ synonym: "monosomy 5p" RELATED [Orphanet:281] synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281] xref: DECIPHER:2 {source="MONDO:equivalentTo"} xref: DOID:12580 {source="MONDO:equivalentTo"} +xref: GARD:6213 {source="Orphanet:281"} xref: ICD10CM:Q93.4 {source="Orphanet:281/inclusion", source="DOID:12580", source="Orphanet:281", source="Orphanet:281/ntbt"} xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -134048,7 +134778,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007405 name: Crouzon syndrome def: "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." [Orphanet:207] -subset: gard_rare {source="GARD:0006206"} +subset: gard_rare {source="GARD:6206"} subset: ordo_malformation_syndrome {source="Orphanet:207"} synonym: "Cfd1" RELATED [GARD:0006206] synonym: "craniofacial dysostosis" EXACT [DOID:2339] @@ -134059,6 +134789,7 @@ synonym: "Crouzon disease" RELATED [GARD:0006206] synonym: "Crouzon syndrome" EXACT [OMIM:123500] synonym: "Crouzon's disease" RELATED [DOID:2339] xref: DOID:2339 {source="MONDO:equivalentTo"} +xref: GARD:6206 {source="Orphanet:207"} xref: ICD10CM:Q75.1 {source="Orphanet:207/ntbt", source="Orphanet:207/inclusion", source="Orphanet:207", source="DOID:2339"} xref: MESH:D003394 {source="MONDO:equivalentTo", source="DOID:2339"} xref: NCIT:C84653 {source="MONDO:equivalentTo", source="DOID:2339"} @@ -134091,6 +134822,7 @@ is_a: MONDO:0022904 {source="https://orcid.org/0000-0001-5208-3432"} ! cryofibri id: MONDO:0007407 name: Cryoglobulinemic vasculitis def: "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." [Orphanet:91138] +subset: gard_rare {source="GARD:6386"} subset: ordo_disease {source="Orphanet:91138"} synonym: "cryoglobulinemia, familial mixed" RELATED [OMIM:123550] synonym: "essential cryoglobulinemia" EXACT [Orphanet:91138] @@ -134100,6 +134832,7 @@ synonym: "MC" EXACT ABBREVIATION [Orphanet:91138] synonym: "Meltzer syndrome" RELATED [OMIM:123550] synonym: "mixed cryoglobulinemia" EXACT [Orphanet:91138] synonym: "primary cryoglobulinemia" EXACT [Orphanet:91138] +xref: GARD:6386 {source="Orphanet:91138"} xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91138/ntbt", source="Orphanet:91138"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027756 {source="Orphanet:91138/e", source="Orphanet:91138"} @@ -134129,6 +134862,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007409 name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome def: "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." [Orphanet:1547] +subset: gard_rare {source="GARD:8174"} subset: ordo_malformation_syndrome {source="Orphanet:1547"} synonym: "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" RELATED [GARD:0008174] synonym: "Cryptomicrotia brachydactyly syndrome" RELATED [GARD:0008174] @@ -134137,6 +134871,7 @@ synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [OMIM:123560] synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547] synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174] synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547] +xref: GARD:8174 {source="Orphanet:1547"} xref: ICD10CM:Q87.8 {source="Orphanet:1547", source="Orphanet:1547/attributed", source="Orphanet:1547/ntbt"} xref: MESH:C536219 {source="MONDO:equivalentTo"} xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="Orphanet:1547/e"} @@ -134152,12 +134887,14 @@ property_value: confidence "7.125" xsd:double id: MONDO:0007410 name: isolated cryptophthalmia def: "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." [Orphanet:91396] +subset: gard_rare {source="GARD:16797"} subset: ordo_morphological_anomaly {source="Orphanet:91396"} synonym: "ankyloblepharon, simple" RELATED [OMIM:123570] synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM:123570] synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570] synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0111717 {source="MONDO:equivalentTo"} +xref: GARD:16797 {source="Orphanet:91396"} xref: ICD10CM:Q11.2 {source="Orphanet:91396/inclusion", source="Orphanet:91396/ntbt", source="Orphanet:91396"} xref: MESH:C565138 {source="MONDO:equivalentTo"} xref: OMIM:123570 {source="Orphanet:91396", source="MONDO:equivalentTo", source="Orphanet:91396/e"} @@ -134174,6 +134911,7 @@ property_value: confidence "0.96" xsd:double id: MONDO:0007411 name: cutis laxa, autosomal dominant 1 def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15055"} synonym: "ADCL1" EXACT ABBREVIATION [DOID:0070130, MONDO:Lexical, OMIM:123700] synonym: "autosomal dominant cutis laxa 1" RELATED [DOID:0070130] synonym: "autosomal dominant cutis laxa caused by mutation in ELN" EXACT [MONDO:design_pattern] @@ -134182,6 +134920,7 @@ synonym: "cutis laxa, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:123700] synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:123700] synonym: "ELN autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070130 {source="MONDO:equivalentTo"} +xref: GARD:15055 {source="OMIM:123700"} xref: ICD10CM:Q82.8 {source="DOID:0070130"} xref: OMIM:123700 {source="DOID:0070130", source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="OMIM:123700"} @@ -134199,7 +134938,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007412 name: Beare-Stevenson cutis gyrata syndrome def: "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." [Orphanet:1555] -subset: gard_rare {source="GARD:0000332"} +subset: gard_rare {source="GARD:332"} subset: ordo_malformation_syndrome {source="Orphanet:1555"} synonym: "Beare Stevenson syndrome" RELATED [GARD:0000332] synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [MONDO:Lexical, OMIM:123790, Orphanet:1555] @@ -134209,6 +134948,7 @@ synonym: "cutis gyrata - acanthosis nigricans - craniosynostosis" RELATED [GARD: synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790] synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332] xref: DOID:0050660 {source="MONDO:equivalentTo"} +xref: GARD:332 {source="Orphanet:1555"} xref: ICD10CM:Q87.8 {source="Orphanet:1555", source="Orphanet:1555/attributed", source="Orphanet:1555/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565129 {source="MONDO:equivalentTo"} @@ -134236,10 +134976,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/332/beare-st id: MONDO:0007413 name: Cyprus facial-neuromusculoskeletal syndrome def: "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." [Orphanet:2674] -subset: gard_rare {source="GARD:0009487"} +subset: gard_rare {source="GARD:9487"} subset: ordo_malformation_syndrome {source="Orphanet:2674"} synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853] synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487] +xref: GARD:9487 {source="Orphanet:2674"} xref: ICD10CM:Q87.8 {source="Orphanet:2674", source="Orphanet:2674/attributed", source="Orphanet:2674/ntbt"} xref: MESH:C536229 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} xref: OMIM:123853 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} @@ -134257,6 +134998,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9487/cyprus- id: MONDO:0007414 name: Gorham-Stout disease def: "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." [Orphanet:73] +subset: gard_rare {source="GARD:6542"} subset: ordo_malformation_syndrome {source="Orphanet:73"} synonym: "cystic angiomatosis of bone diffuse" RELATED [GARD:0006542] synonym: "cystic angiomatosis of bone, diffuse" RELATED [OMIM:123880] @@ -134268,6 +135010,7 @@ synonym: "osteolysis massive" RELATED [GARD:0006542] synonym: "osteolysis, massive" RELATED [OMIM:123880] synonym: "progressive massive osteolysis" EXACT [Orphanet:73] synonym: "vanishing bone disease" EXACT [Orphanet:73] +xref: GARD:6542 {source="Orphanet:73"} xref: ICD10CM:M89.5 {source="Orphanet:73/attributed", source="Orphanet:73/ntbt", source="Orphanet:73"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071283 {source="Orphanet:73/e", source="Orphanet:73"} @@ -134286,7 +135029,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007415 name: mitochondrial complex III deficiency nuclear type 1 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:15056"} synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295] synonym: "MC3DN1" RELATED ABBREVIATION [MESH:C565128, MONDO:Lexical, OMIM:124000] @@ -134295,6 +135038,7 @@ synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295] synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000] xref: DOID:0080111 {source="MONDO:equivalentTo"} +xref: GARD:15056 {source="OMIM:124000"} xref: MESH:C565128 {source="MONDO:equivalentTo"} xref: OMIM:124000 {source="DOID:0080111", source="GARD:0008295", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:124000", source="GARD:0008295"} @@ -134342,6 +135086,7 @@ is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease id: MONDO:0007417 name: Darier disease def: "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." [Orphanet:218] +subset: gard_rare {source="GARD:6243"} subset: ordo_disease {source="Orphanet:218"} synonym: "DAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124200] synonym: "dar" RELATED [OMIM:124200] @@ -134353,6 +135098,7 @@ synonym: "Darier's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID synonym: "Darier-White disease" EXACT [DOID:2734, MONDO:Lexical, OMIM:124200, Orphanet:218] synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218] xref: DOID:2734 {source="MONDO:equivalentTo"} +xref: GARD:6243 {source="Orphanet:218"} xref: ICD10CM:E50.8 {source="DOID:2734"} xref: ICD10CM:Q82.8 {source="Orphanet:218/ntbt", source="Orphanet:218/inclusion", source="Orphanet:218"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -134399,7 +135145,7 @@ replaced_by: MONDO:0007418 id: MONDO:0007420 name: autosomal dominant deafness - onychodystrophy syndrome def: "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." [Orphanet:79499] -subset: gard_rare {source="GARD:0004732"} +subset: gard_rare {source="GARD:4732"} subset: ordo_malformation_syndrome {source="Orphanet:79499"} synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT [] synonym: "DDOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124480] @@ -134413,6 +135159,7 @@ synonym: "familial ectodermal dysplasia with sensori-neural deafness and other a synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732] synonym: "Robinson-Miller-Bensimon syndrome" RELATED [GARD:0004732] xref: DOID:0080720 {source="MONDO:equivalentTo"} +xref: GARD:4732 {source="Orphanet:79499"} xref: ICD10CM:Q87.8 {source="Orphanet:79499/attributed", source="Orphanet:79499/ntbt", source="Orphanet:79499"} xref: OMIM:124480 {source="Orphanet:79499/e", source="MONDO:equivalentTo", source="Orphanet:79499"} xref: Orphanet:3231 {source="OMIM:124480"} @@ -134431,9 +135178,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4732/autosom id: MONDO:0007421 name: deafness-ear malformation-facial palsy syndrome def: "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." [Orphanet:3232] +subset: gard_rare {source="GARD:1684"} subset: ordo_malformation_syndrome {source="Orphanet:3232"} synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490] synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232] +xref: GARD:1684 {source="Orphanet:3232"} xref: ICD10CM:Q87.0 {source="Orphanet:3232", source="Orphanet:3232/attributed", source="Orphanet:3232/ntbt"} xref: MESH:C565123 {source="MONDO:equivalentTo"} xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="Orphanet:3232/e"} @@ -134446,6 +135195,7 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0007422 name: keratoderma hereditarium mutilans +subset: gard_rare {source="GARD:3092"} subset: ordo_disease {source="Orphanet:494"} synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [OMIM:124500] synonym: "keratoderma hereditarium mutilans" EXACT [OMIM:124500] @@ -134457,6 +135207,7 @@ synonym: "PPK mutilans and deafness" EXACT [Orphanet:494] synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494] synonym: "VOWNKL" RELATED ABBREVIATION [OMIM:124500] xref: DOID:0111339 {source="MONDO:equivalentTo"} +xref: GARD:3092 {source="Orphanet:494"} xref: ICD10CM:Q82.8 {source="Orphanet:494", source="Orphanet:494/attributed", source="Orphanet:494/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536457 {source="MONDO:equivalentTo"} @@ -134541,10 +135292,11 @@ is_a: MONDO:0003847 {source="MESH:C565119/inferred"} ! hereditary disease id: MONDO:0007428 name: deafness-craniofacial syndrome def: "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." [Orphanet:3241] -subset: gard_rare {source="GARD:0001686"} +subset: gard_rare {source="GARD:1686"} subset: ordo_malformation_syndrome {source="Orphanet:3241"} synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686] synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230] +xref: GARD:1686 {source="Orphanet:3241"} xref: ICD10CM:Q87.0 {source="Orphanet:3241/attributed", source="Orphanet:3241/ntbt", source="Orphanet:3241"} xref: MESH:C565118 {source="MONDO:equivalentTo"} xref: OMIM:125230 {source="Orphanet:3241/e", source="MONDO:equivalentTo", source="Orphanet:3241"} @@ -134560,10 +135312,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1686/deafnes [Term] id: MONDO:0007429 name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +subset: gard_rare {source="GARD:15057"} synonym: "dominant optic atrophy plus syndrome" RELATED [OMIM:125250] synonym: "optic atrophy 1 and deafness" RELATED [GARD:0009897] synonym: "optic atrophy plus syndrome" EXACT [OMIM:125250, OMIM:genemap2] synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [OMIM:125250] +xref: GARD:15057 {source="OMIM:125250"} xref: OMIM:125250 {source="MONDO:equivalentTo"} xref: Orphanet:1215 {source="OMIM:125250"} xref: Orphanet:3212 {source="OMIM:125250", source="MONDO:relatedTo"} @@ -134629,6 +135383,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007434 name: primary failure of tooth eruption +subset: gard_rare {source="GARD:17692"} subset: ordo_disease {source="Orphanet:412206"} synonym: "dental noneruption" RELATED [OMIM:125350] synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical, OMIM:125350] @@ -134638,6 +135393,7 @@ synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350] synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206] synonym: "unerupted second primary molar" RELATED [OMIM:125350] xref: DOID:0111341 {source="MONDO:equivalentTo"} +xref: GARD:17692 {source="Orphanet:412206"} xref: ICD10CM:K00.8 {source="Orphanet:412206/attributed", source="Orphanet:412206/ntbt", source="Orphanet:412206"} xref: MESH:C565114 {source="MONDO:equivalentTo"} xref: OMIM:125350 {source="Orphanet:412206", source="MONDO:equivalentTo", source="Orphanet:412206/e"} @@ -134651,7 +135407,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0007435 name: dentatorubral-pallidoluysian atrophy def: "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." [Orphanet:101] -subset: gard_rare {source="GARD:0005643"} +subset: gard_rare {source="GARD:5643"} subset: ordo_disease {source="Orphanet:101"} synonym: "ataxia, chorea, seizures, and dementia" RELATED [OMIM:125370] synonym: "dentatorubral pallidoluysian atrophy" RELATED [Orphanet:101] @@ -134664,6 +135420,7 @@ synonym: "Naito Oyanagi disease" RELATED [GARD:0005643] synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101] synonym: "NOD" RELATED ABBREVIATION [GARD:0005643] xref: DOID:0060162 {source="MONDO:equivalentTo"} +xref: GARD:5643 {source="Orphanet:101"} xref: ICD10CM:G11.8 {source="Orphanet:101/attributed", source="Orphanet:101/ntbt", source="Orphanet:101"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020191 {source="MONDO:relatedTo", source="DOID:0060162"} @@ -134695,7 +135452,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5643/dentato id: MONDO:0007436 name: dentin dysplasia type I def: "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." [Orphanet:99789] -subset: gard_rare {source="GARD:0001807"} +subset: gard_rare {source="GARD:1807"} subset: ordo_clinical_subtype {source="Orphanet:99789"} synonym: "DD-I" EXACT [Orphanet:99789] synonym: "dentin dysplasia type I" EXACT CLINGEN_PREFERRED [] @@ -134707,6 +135464,7 @@ synonym: "dentin dysplasia, type i, with microdontia and misshapen teeth" EXACT synonym: "DTDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125400, Orphanet:99789] synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789] synonym: "rootless teeth" RELATED [OMIM:125400] +xref: GARD:1807 {source="Orphanet:99789"} xref: ICD10CM:K00.5 {source="Orphanet:99789/attributed", source="Orphanet:99789/ntbt", source="Orphanet:99789"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C531665 {source="MONDO:equivalentTo"} @@ -134728,6 +135486,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1807/dentin- id: MONDO:0007437 name: dentin dysplasia type II def: "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition." [Orphanet:99791] +subset: gard_rare {source="GARD:1806"} subset: ordo_clinical_subtype {source="Orphanet:99791"} synonym: "anomalous dysplasia of dentin" RELATED [OMIM:125420] synonym: "coronal dentin dysplasia" RELATED [OMIM:125420] @@ -134741,6 +135500,7 @@ synonym: "DTDP2" EXACT ABBREVIATION [Orphanet:99791] synonym: "Dtdp2" RELATED [OMIM:125420] synonym: "pulp stones" RELATED [OMIM:125420] synonym: "pulpal dysplasia" RELATED [OMIM:125420] +xref: GARD:1806 {source="Orphanet:99791"} xref: ICD10CM:K00.5 {source="Orphanet:99791", source="Orphanet:99791/attributed", source="Orphanet:99791/ntbt"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:125420 {source="MONDO:equivalentTo"} @@ -134757,10 +135517,12 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0007438 name: dentin dysplasia-sclerotic bones syndrome def: "A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." [https://orcid.org/0000-0001-5208-3432, Orphanet:99792] +subset: gard_rare {source="GARD:1808"} subset: ordo_disease {source="Orphanet:99792"} synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808] synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440] synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808] +xref: GARD:1808 {source="Orphanet:99792"} xref: ICD10CM:K00.5 {source="Orphanet:99792/attributed", source="Orphanet:99792/ntbt", source="Orphanet:99792"} xref: MESH:C538213 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} xref: OMIM:125440 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} @@ -134799,6 +135561,7 @@ relationship: excluded_subClassOf MONDO:0001866 {source="DOID:0080220"} ! bipola id: MONDO:0007441 name: dentinogenesis imperfecta type 2 def: "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." [Orphanet:166260] +subset: gard_rare {source="GARD:12796"} subset: ordo_clinical_subtype {source="Orphanet:166260"} synonym: "Capdepont teeth" EXACT [OMIM:125490, Orphanet:166260] synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical, OMIM:125490] @@ -134812,6 +135575,7 @@ synonym: "DGI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125490] synonym: "DI-2" EXACT [Orphanet:166260] synonym: "opalescent dentin" RELATED [OMIM:125490] synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490] +xref: GARD:12796 {source="Orphanet:166260"} xref: ICD10CM:K00.5 {source="Orphanet:166260/attributed", source="Orphanet:166260/ntbt", source="Orphanet:166260"} xref: OMIM:125490 {source="Orphanet:166260/e", source="MONDO:equivalentTo", source="Orphanet:166260"} xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"} @@ -134827,7 +135591,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007442 name: dentinogenesis imperfecta type 3 def: "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." [Orphanet:166265] -subset: gard_rare {source="GARD:0010144"} +subset: gard_rare {source="GARD:10144"} subset: ordo_clinical_subtype {source="Orphanet:166265"} synonym: "brandywine type dentinogenesis imperfecta" RELATED [OMIM:125500] synonym: "dentinogenesis imperfecta Shields type 3" RELATED [GARD:0010144] @@ -134835,6 +135599,7 @@ synonym: "dentinogenesis imperfecta type III" RELATED [GARD:0010144] synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265] synonym: "dentinogenesis imperfecta, Shields type III" RELATED [OMIM:125500] synonym: "DGI-III" RELATED [OMIM:125500] +xref: GARD:10144 {source="Orphanet:166265"} xref: ICD10CM:K00.5 {source="Orphanet:166265/attributed", source="Orphanet:166265/ntbt", source="Orphanet:166265"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538216 {source="MONDO:equivalentTo"} @@ -134853,12 +135618,14 @@ id: MONDO:0007443 name: congenital unilateral hypoplasia of depressor anguli oris def: "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." [Orphanet:1166] comment: Editor note: TODO check relationship to 22q11.2 deletion syndrome +subset: gard_rare {source="GARD:16557"} subset: ordo_morphological_anomaly {source="Orphanet:1166"} synonym: "asymmetric crying facies" RELATED [OMIM:125520] synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520] synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520] synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520] synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166] +xref: GARD:16557 {source="Orphanet:1166"} xref: ICD10CM:Q87.0 {source="Orphanet:1166/attributed", source="Orphanet:1166/ntbt", source="Orphanet:1166"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535349 {source="Orphanet:1166", source="Orphanet:1166/e"} @@ -134884,11 +135651,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007445 name: dermatopathia pigmentosa reticularis -subset: gard_rare {source="GARD:0008550"} +subset: gard_rare {source="GARD:8550"} subset: ordo_disease {source="Orphanet:86920"} synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:125595] synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125595] xref: DOID:0111342 {source="MONDO:equivalentTo"} +xref: GARD:8550 {source="Orphanet:86920"} xref: ICD10CM:Q82.4 {source="Orphanet:86920/attributed", source="Orphanet:86920/ntbt", source="Orphanet:86920"} xref: MESH:C535374 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} xref: OMIM:125595 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} @@ -134927,6 +135695,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007447 name: autosomal dominant vibratory urticaria def: "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242] +subset: gard_rare {source="GARD:9806"} subset: ordo_disease synonym: "angioedema, vibratory" BROAD [OMIM:193050] synonym: "DDU" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125630] @@ -134934,6 +135703,7 @@ synonym: "dermodistortive urticaria" EXACT [MONDO:Lexical, OMIM:125630] synonym: "VBU" EXACT ABBREVIATION [OMIM:125630] synonym: "vibratory angioedema" BROAD [MONDO:0008657, MONDO:0024254, OMIM:193050] synonym: "vibratory urticaria, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] +xref: GARD:9806 {source="Orphanet:493342"} xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536347 {source="MONDO:equivalentTo"} xref: OMIM:125630 {source="Orphanet:493342", source="MONDO:equivalentTo", source="Orphanet:493348"} @@ -134955,7 +135725,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007448 name: familial dermatographia def: "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own." [GARD:0009480] -subset: gard_rare synonym: "DDU" RELATED ABBREVIATION [MESH:C536612] synonym: "dermatographia" RELATED [GARD:0009480] synonym: "dermatographic urticaria" EXACT [DOID:743, ICD9CM:708.3] @@ -134996,6 +135765,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9480/familia id: MONDO:0007449 name: dermo-odonto dysplasia def: "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." [Orphanet:1660] +subset: gard_rare {source="GARD:1816"} subset: ordo_malformation_syndrome {source="Orphanet:1660"} synonym: "dermo odontodysplasia" RELATED [] synonym: "dermo-odonto dysplasia" EXACT [] @@ -135003,6 +135773,7 @@ synonym: "dermo-odonto-dysplasia" RELATED [GARD:0001816] synonym: "dermoodonto dysplasia" RELATED [] synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [OMIM:125640] synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640] +xref: GARD:1816 {source="Orphanet:1660"} xref: ICD10CM:Q82.4 {source="Orphanet:1660", source="Orphanet:1660/attributed", source="Orphanet:1660/ntbt"} xref: MESH:C565103 {source="MONDO:equivalentTo"} xref: OMIM:125640 {source="Orphanet:1660", source="MONDO:equivalentTo", source="Orphanet:1660/e"} @@ -135017,6 +135788,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0007450 name: neurohypophyseal diabetes insipidus def: "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." [Orphanet:30925] +subset: gard_rare {source="GARD:18602", source="GARD:16629"} subset: ordo_clinical_subtype {source="Orphanet:30925"} synonym: "ADH deficiency" EXACT [NCIT:C84933] synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933] @@ -135036,6 +135808,8 @@ synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location] synonym: "vasopressin defective diabetes insipidus" EXACT [DOID:12388] synonym: "vasopressin deficiency" EXACT [DOID:12388] xref: DOID:12388 {source="MONDO:equivalentTo"} +xref: GARD:16629 {source="Orphanet:30925"} +xref: GARD:18602 {source="OMIM:125700"} xref: ICD10CM:E23.2 {source="Orphanet:30925/e", source="Orphanet:30925/specific", source="Orphanet:30925"} xref: MESH:D020790 {source="DOID:12388"} xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388"} @@ -135061,10 +135835,12 @@ property_value: confidence "0.06451612903225823" xsd:double [Term] id: MONDO:0007451 name: diabetes insipidus, nephrogenic, autosomal +subset: gard_rare {source="GARD:15058"} synonym: "diabetes insipidus, nephrogenic, 2" EXACT [OMIM:125800, OMIM:genemap2] synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [OMIM:125800] synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [OMIM:125800] xref: DOID:0081061 {source="MONDO:equivalentTo"} +xref: GARD:15058 {source="OMIM:125800"} xref: OMIM:125800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="OMIM:125800"} xref: UMLS:C1563706 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:125800"} @@ -135078,7 +135854,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007452 name: maturity-onset diabetes of the young type 1 def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." [NCIT:C129744] -subset: gard_rare {source="GARD:0003418"} +subset: gard_rare {source="GARD:3418"} synonym: "diabetes mellitus MODY type 1" RELATED [GARD:0003418] synonym: "diabetes mellitus type 2" EXACT [DOID:0111099] synonym: "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes" EXACT [NCIT:C129744] @@ -135093,6 +135869,7 @@ synonym: "MODY, type I" EXACT [OMIM:125850, OMIM:genemap2] synonym: "MODY1" EXACT ABBREVIATION [DOID:0111099, MONDO:Lexical, OMIM:125850] synonym: "type 1 maturity-onset diabetes of the young" RELATED [GARD:0003418] xref: DOID:0111099 {source="MONDO:equivalentTo"} +xref: GARD:3418 {source="OMIM:125850"} xref: MESH:C565101 {source="MONDO:equivalentTo"} xref: NCIT:C129744 {source="MONDO:equivalentTo"} xref: OMIM:125850 {source="MONDO:equivalentTo", source="DOID:0111099"} @@ -135109,7 +135886,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3418/maturit id: MONDO:0007453 name: maturity-onset diabetes of the young type 2 def: "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." [NCIT:C129741] -subset: gard_rare {source="GARD:0010657"} +subset: gard_rare {source="GARD:10657"} synonym: "diabetes mellitus MODY type 2" RELATED [GARD:0010657] synonym: "GCK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GCK-associated diabetes mellitus" EXACT [NCIT:C129741] @@ -135126,6 +135903,7 @@ synonym: "MODY, type II" EXACT [OMIM:125851, OMIM:genemap2] synonym: "MODY2" EXACT ABBREVIATION [DOID:0111100, MONDO:Lexical, OMIM:125851] synonym: "type 2 maturity-onset diabetes of the young" RELATED [GARD:0010657] xref: DOID:0111100 {source="MONDO:equivalentTo"} +xref: GARD:10657 {source="OMIM:125851"} xref: NCIT:C129741 {source="MONDO:equivalentTo"} xref: OMIM:125851 {source="MONDO:equivalentTo", source="DOID:0111100"} xref: Orphanet:552 {source="OMIM:125851"} @@ -135194,8 +135972,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007458 name: digitotalar dysmorphism; ulnar drift, hereditary +subset: gard_rare {source="GARD:15059"} synonym: "digitotalar dysmorphism" RELATED [OMIM:126050] synonym: "ulnar drift, hereditary" RELATED [OMIM:126050] +xref: GARD:15059 {source="OMIM:126050"} xref: OMIM:126050 {source="MONDO:equivalentTo"} xref: SCTID:715314008 {source="MONDO:directSiblingOf"} xref: UMLS:C1852085 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:126050"} @@ -135230,8 +136010,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007461 name: short stature-valvular heart disease-characteristic facies syndrome def: "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." [Orphanet:2868] +subset: gard_rare {source="GARD:16612"} subset: ordo_malformation_syndrome {source="Orphanet:2868"} synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190] +xref: GARD:16612 {source="Orphanet:2868"} xref: ICD10CM:Q87.1 {source="Orphanet:2868/attributed", source="Orphanet:2868/ntbt", source="Orphanet:2868"} xref: MESH:C565094 {source="MONDO:equivalentTo"} xref: OMIM:126190 {source="Orphanet:2868/e", source="MONDO:equivalentTo", source="Orphanet:2868"} @@ -135269,9 +136051,11 @@ is_a: MONDO:0003847 {source="MESH:C565093/inferred"} ! hereditary disease id: MONDO:0007464 name: obsolete isolated distichiasis def: "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." [Orphanet:99177] +subset: gard_rare {source="GARD:16899"} subset: ordo_morphological_anomaly {source="Orphanet:99177"} synonym: "distichiasis" RELATED [OMIM:126300] synonym: "eyelashes, two rows of" RELATED [OMIM:126300] +xref: GARD:16899 {source="MONDO:obsoleteEquivalent", source="Orphanet:99177"} xref: ICD10CM:Q10.3 {source="Orphanet:99177/attributed", source="Orphanet:99177/ntbt", source="Orphanet:99177"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:126300 {source="Orphanet:99177/e", source="MONDO:obsoleteEquivalent", source="Orphanet:99177"} @@ -135331,7 +136115,6 @@ is_obsolete: true [Term] id: MONDO:0007469 name: double nail for fifth toe -subset: gard_rare synonym: "double nail for fifth toe" EXACT [OMIM:126500] synonym: "Double nails on the fifth toe" RELATED [GARD:0009672] synonym: "fifth toe, double nails" RELATED [GARD:0009672] @@ -135346,11 +136129,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9672/double- id: MONDO:0007470 name: calvarial doughnut lesions-bone fragility syndrome def: "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." [Orphanet:85192] +subset: gard_rare {source="GARD:16739"} subset: ordo_malformation_syndrome {source="Orphanet:85192"} synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [OMIM:126550, OMIM:genemap2] synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550] synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192] xref: DOID:0080721 {source="MONDO:equivalentTo"} +xref: GARD:16739 {source="Orphanet:85192"} xref: ICD10CM:M85.8 {source="Orphanet:85192", source="Orphanet:85192/attributed", source="Orphanet:85192/ntbt"} xref: MESH:C565089 {source="MONDO:equivalentTo"} xref: OMIM:126550 {source="MONDO:equivalentTo", source="Orphanet:85192", source="Orphanet:85192/e"} @@ -135369,7 +136154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007471 name: Doyne honeycomb retinal dystrophy def: "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." [https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy] -subset: gard_rare {source="GARD:0001912"} +subset: gard_rare {source="GARD:1912"} subset: ordo_disease {source="Orphanet:75376"} synonym: "DHD" RELATED ABBREVIATION [GARD:0001912] synonym: "DHRD" EXACT ABBREVIATION [DOID:0060745, MONDO:Lexical, OMIM:126600, Orphanet:75376] @@ -135381,6 +136166,7 @@ synonym: "drusen, radial, autosomal dominant" RELATED [OMIM:126600] synonym: "familial drusen" RELATED [Orphanet:75376] synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376] xref: DOID:0060745 {source="MONDO:equivalentTo"} +xref: GARD:1912 {source="Orphanet:75376"} xref: ICD10CM:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="Orphanet:75376/attributed", source="Orphanet:75376/ntbt", source="DOID:0060745"} xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="Orphanet:75376/e", source="DOID:0060745"} xref: Orphanet:75376 {source="MONDO:equivalentTo", source="DOID:0060745", source="OMIM:126600"} @@ -135399,6 +136185,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1912/doyne-h id: MONDO:0007472 name: basal laminar drusen def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." [DOID:0060746, PMID:18252232, PMID:5448127] +subset: gard_rare {source="GARD:15060"} synonym: "basal laminar drusen" EXACT [OMIM:126700] synonym: "cuticular drusen" EXACT [DOID:0060746] synonym: "drusen of Bruch membrane" EXACT [DOID:0060746, OMIM:126700] @@ -135406,6 +136193,7 @@ synonym: "drusen, cuticular" RELATED [OMIM:126700] synonym: "drusen, early adult-onset, grouped" RELATED [OMIM:126700] synonym: "early adult-onset grouped drusen" EXACT [DOID:0060746] xref: DOID:0060746 {source="MONDO:equivalentTo"} +xref: GARD:15060 {source="OMIM:126700"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0060746"} xref: MESH:C563034 {source="MONDO:equivalentTo"} xref: OMIM:126700 {source="MONDO:equivalentTo", source="DOID:0060746"} @@ -135424,7 +136212,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0007473 name: Duane retraction syndrome def: "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." [Orphanet:233] -subset: gard_rare +subset: gard_rare {source="GARD:6288"} subset: ordo_malformation_syndrome {source="Orphanet:233"} subset: prototype_pattern synonym: "DRS" EXACT ABBREVIATION [Orphanet:233] @@ -135436,6 +136224,7 @@ synonym: "DURS" EXACT ABBREVIATION [Orphanet:233] synonym: "retraction syndrome" RELATED [OMIM:126800] synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233] xref: DOID:12557 {source="MONDO:equivalentTo"} +xref: GARD:6288 {source="Orphanet:233"} xref: ICD10CM:H50.8 {source="Orphanet:233/ntbt", source="Orphanet:233/inclusion", source="Orphanet:233"} xref: ICD10CM:H50.81 {source="DOID:12557"} xref: ICD9:378.71 {source="DOID:12557", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -135458,7 +136247,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6288/duane-s [Term] id: MONDO:0007474 name: duodenal ulcer due to antral G-cell hyperfunction -subset: gard_rare {source="GARD:0009743"} synonym: "duodenal ulcer due to antral G-cell hyperfunction" EXACT [OMIM:126840] synonym: "hypergastrinemic, hyperpepsinogenemic duodenal ulcer" RELATED [GARD:0009743] xref: MESH:C535721 {source="MONDO:equivalentTo"} @@ -135501,6 +136289,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0007477 name: 3-M syndrome def: "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." [Orphanet:2616] +subset: gard_rare {source="GARD:5667"} subset: ordo_malformation_syndrome {source="Orphanet:2616"} subset: prototype_pattern synonym: "3-M syndrome" EXACT [MESH:C535314, Orphanet:2616] @@ -135519,6 +136308,7 @@ synonym: "three M syndrome 1" NARROW [MESH:C535314] synonym: "three-M slender-boned nanism" RELATED [MESH:C535314] synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616] xref: DOID:0060241 {source="MONDO:equivalentTo"} +xref: GARD:5667 {source="Orphanet:2616"} xref: ICD10CM:Q87.1 {source="Orphanet:2616", source="Orphanet:2616/attributed", source="Orphanet:2616/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535314 {source="DOID:0060241", source="MONDO:equivalentTo"} @@ -135542,7 +136332,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007478 name: autosomal dominant Kenny-Caffey syndrome def: "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." [NCIT:C130993] -subset: gard_rare +subset: gard_rare {source="GARD:83"} subset: ordo_etiological_subtype {source="Orphanet:93325"} synonym: "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" RELATED [GARD:0000083] synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [OMIM:127000] @@ -135552,6 +136342,7 @@ synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993] synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant] synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000] xref: DOID:0080723 {source="MONDO:equivalentTo"} +xref: GARD:83 {source="Orphanet:93325"} xref: ICD10CM:Q87.1 {source="Orphanet:93325", source="Orphanet:93325/attributed", source="Orphanet:93325/ntbt"} xref: NCIT:C130993 {source="MONDO:equivalentTo"} xref: OMIM:127000 {source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083", source="Orphanet:93325/e"} @@ -135571,7 +136362,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/83/kenny-caf [Term] id: MONDO:0007479 name: dwarfism, Levi type -subset: gard_rare {source="GARD:0006294"} synonym: "dwarfism Levi type" RELATED [GARD:0006294] synonym: "dwarfism Levi's type" RELATED [GARD:0006294] synonym: "dwarfism, Levi type" EXACT [OMIM:127100] @@ -135599,7 +136389,7 @@ is_a: MONDO:0003847 {source="MESH:C535724/inferred"} ! hereditary disease id: MONDO:0007481 name: Leri-Weill dyschondrosteosis def: "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." [Orphanet:240] -subset: gard_rare +subset: gard_rare {source="GARD:3224"} subset: ordo_malformation_syndrome {source="Orphanet:240"} synonym: "DCo" RELATED [GARD:0003224] synonym: "dyschondrosteosis" RELATED [GARD:0003224, OMIM:127300] @@ -135614,6 +136404,7 @@ synonym: "Léri-Weill syndrome" EXACT [Orphanet:240] synonym: "Madelung deformity" RELATED [OMIM:127300] xref: DECIPHER:58 {source="MONDO:equivalentTo"} xref: DOID:0060847 {source="MONDO:equivalentTo"} +xref: GARD:3224 {source="Orphanet:240"} xref: ICD10CM:Q77.8 {source="Orphanet:240/attributed", source="Orphanet:240/ntbt", source="Orphanet:240", source="DOID:0060847"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537119 {source="Orphanet:240/e", source="Orphanet:240", source="DOID:0060847"} @@ -135635,11 +136426,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3224/leri-we id: MONDO:0007482 name: dyschondrosteosis-nephritis syndrome def: "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." [Orphanet:1765] -subset: gard_rare +subset: gard_rare {source="GARD:1994"} subset: ordo_malformation_syndrome {source="Orphanet:1765"} synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350] synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994] synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994] +xref: GARD:1994 {source="Orphanet:1765"} xref: ICD10CM:Q87.8 {source="Orphanet:1765", source="Orphanet:1765/attributed", source="Orphanet:1765/ntbt"} xref: MESH:C565080 {source="MONDO:equivalentTo"} xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="Orphanet:1765/e"} @@ -135657,6 +136449,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1994/dyschon id: MONDO:0007483 name: dyschromatosis symmetrica hereditaria def: "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." [Orphanet:41] +subset: gard_rare {source="GARD:334"} subset: ordo_disease {source="Orphanet:41"} synonym: "acropigmentation of Dohi" EXACT [Orphanet:41] synonym: "DSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127400] @@ -135669,6 +136462,7 @@ synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, OMIM:127400] synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400] xref: DOID:0060257 {source="MONDO:equivalentTo"} xref: EFO:0008878 {source="MONDO:equivalentTo"} +xref: GARD:334 {source="Orphanet:41"} xref: ICD10CM:L81.8 {source="Orphanet:41/attributed", source="Orphanet:41/ntbt", source="Orphanet:41"} xref: MESH:C535729 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"} xref: NCIT:C118435 {source="DOID:0060257", source="MONDO:equivalentTo"} @@ -135691,7 +136485,7 @@ replaced_by: MONDO:0000736 id: MONDO:0007485 name: dyskeratosis congenita, autosomal dominant 1 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." [DOID:0070014] -subset: gard_rare +subset: gard_rare {source="GARD:6299"} subset: prototype_pattern synonym: "autosomal dominant dyskeratosis congenita" RELATED [GARD:0006299] synonym: "autosomal dominant dyskeratosis congenita 1" RELATED [DOID:0070014] @@ -135703,6 +136497,7 @@ synonym: "dyskeratosis congenita, autosomal dominant 1" EXACT [MONDO:Lexical, OM synonym: "dyskeratosis congenita, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:127550] synonym: "dyskeratosis congenita, Scoggins type" EXACT [DOID:0070014, OMIM:127550] xref: DOID:0070014 {source="MONDO:equivalentTo"} +xref: GARD:6299 {source="OMIM:127550"} xref: MESH:C565079 {source="MONDO:equivalentTo"} xref: NCIT:C176921 {source="MONDO:equivalentTo"} xref: OMIM:127550 {source="DOID:0070014", source="MONDO:equivalentTo", source="GARD:0006299"} @@ -135717,12 +136512,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6299/dyskera id: MONDO:0007486 name: hereditary benign intraepithelial dyskeratosis def: "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." [NCIT:C3940] +subset: gard_rare {source="GARD:17524"} subset: ordo_disease {source="Orphanet:352657"} synonym: "Dkbi" RELATED [OMIM:127600] synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical, OMIM:127600] synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127600, Orphanet:352657] synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657] synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940] +xref: GARD:17524 {source="Orphanet:352657"} xref: ICD10CM:Q82.8 {source="Orphanet:352657/attributed", source="Orphanet:352657/ntbt", source="Orphanet:352657"} xref: MESH:C562551 {source="MONDO:equivalentTo"} xref: NCIT:C3940 {source="MONDO:equivalentTo"} @@ -135795,10 +136592,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007489 name: dysplasia epiphysealis hemimelica def: "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." [https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica] -subset: gard_rare {source="GARD:0002019"} +subset: gard_rare {source="GARD:2019"} subset: ordo_malformation_syndrome {source="Orphanet:1822"} synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800] synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822] +xref: GARD:2019 {source="Orphanet:1822"} xref: ICD10CM:Q74.8 {source="Orphanet:1822", source="Orphanet:1822/attributed", source="Orphanet:1822/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} @@ -135816,13 +136614,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2019/dysplas id: MONDO:0007490 name: carpotarsal osteochondromatosis def: "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." [Orphanet:2767] -subset: gard_rare {source="GARD:0001128"} +subset: gard_rare {source="GARD:1128"} subset: ordo_malformation_syndrome {source="Orphanet:2767"} synonym: "dominant carpotarsal osteochondromatosis" RELATED [GARD:0001128] synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [OMIM:127820] synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128] synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767] synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820] +xref: GARD:1128 {source="Orphanet:2767"} xref: ICD10CM:D16.9 {source="Orphanet:2767", source="Orphanet:2767/attributed", source="Orphanet:2767/ntbt"} xref: MESH:C565076 {source="MONDO:equivalentTo"} xref: OMIM:127820 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} @@ -135838,7 +136637,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1128/carpota [Term] id: MONDO:0007491 name: dystelephalangy -subset: gard_rare {source="GARD:0010059"} synonym: "congenital bilateral metadiaphyseal acrodysplasia of the little finger" RELATED [GARD:0010059] synonym: "dystelephalangy" EXACT [OMIM:128000] synonym: "Kirner deformity" RELATED [OMIM:128000] @@ -135853,7 +136651,7 @@ id: MONDO:0007492 name: early-onset generalized limb-onset dystonia alt_id: MONDO:0023033 def: "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." [Orphanet:256] -subset: gard_rare +subset: gard_rare {source="GARD:2027", source="GARD:15061"} subset: ordo_disease {source="Orphanet:256"} synonym: "dystonia 1" RELATED [GARD:0002027] synonym: "dystonia 1, torsion, Autosomal dominant" RELATED [MESH:C538005] @@ -135885,6 +136683,8 @@ synonym: "torsion dystonia 1" RELATED [DOID:0060730] synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005] synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1] xref: DOID:0060730 {source="MONDO:equivalentTo"} +xref: GARD:15061 {source="OMIM:128100"} +xref: GARD:2027 {source="Orphanet:256"} xref: ICD10CM:G24.1 {source="Orphanet:256/specific", source="DOID:0060730", source="Orphanet:256/e", source="Orphanet:256"} xref: MESH:C538005 {source="MONDO:equivalentTo"} xref: NCIT:C116718 {source="MONDO:equivalentTo"} @@ -135904,6 +136704,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2027/early-o id: MONDO:0007493 name: torsion dystonia 4 def: "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." [Orphanet:98805] +subset: gard_rare {source="GARD:10138"} subset: ordo_disease {source="Orphanet:98805"} synonym: "autosomal dominant torsion dystonia-4" RELATED [GARD:0010138] synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:128101] @@ -135915,6 +136716,7 @@ synonym: "torsion dystonia type 4" EXACT [DOID:0090041, MONDORULE:1] synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101] xref: DOID:0090041 {source="MONDO:equivalentTo"} +xref: GARD:10138 {source="Orphanet:98805"} xref: ICD10CM:G24.1 {source="DOID:0090041", source="Orphanet:98805/attributed", source="Orphanet:98805/ntbt", source="Orphanet:98805"} xref: OMIM:128101 {source="DOID:0090041", source="Orphanet:98805/e", source="MONDO:equivalentTo", source="Orphanet:98805"} xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO:equivalentTo"} @@ -135937,6 +136739,7 @@ replaced_by: MONDO:0100352 id: MONDO:0007495 name: dystonia 5 def: "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." [Orphanet:98808] +subset: gard_rare {source="GARD:9817"} subset: ordo_disease {source="Orphanet:98808"} synonym: "autosomal dominant dopa-responsive dystonia" RELATED [Orphanet:98808] synonym: "autosomal dominant Segawa syndrome" EXACT [Orphanet:98808] @@ -135959,6 +136762,7 @@ synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT synonym: "HPD with marked diurnal fluctuation" EXACT [Orphanet:98808] synonym: "Segawa syndrome, autosomal dominant" RELATED [OMIM:128230] xref: DOID:0090043 {source="MONDO:equivalentTo"} +xref: GARD:9817 {source="Orphanet:98808"} xref: ICD10CM:G24.1 {source="DOID:0090043", source="Orphanet:98808/attributed", source="Orphanet:98808/ntbt", source="Orphanet:98808"} xref: OMIM:128230 {source="DOID:0090043", source="Orphanet:98808/e", source="MONDO:equivalentTo", source="Orphanet:98808"} xref: Orphanet:98808 {source="DOID:0090043", source="MONDO:equivalentTo", source="OMIM:128230"} @@ -135977,6 +136781,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007496 name: dystonia 12 def: "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." [Orphanet:71517] +subset: gard_rare {source="GARD:9628"} subset: ordo_disease {source="Orphanet:71517"} synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517] @@ -135989,6 +136794,7 @@ synonym: "DYT12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128235, Orphanet:71517] synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517] synonym: "RDP" RELATED ABBREVIATION [GARD:0009628] xref: DOID:0090056 {source="MONDO:equivalentTo"} +xref: GARD:9628 {source="Orphanet:71517"} xref: ICD10CM:G24.1 {source="DOID:0090056", source="Orphanet:71517/attributed", source="Orphanet:71517/ntbt", source="Orphanet:71517"} xref: MESH:C538001 {source="MONDO:equivalentTo"} xref: NCIT:C157577 {source="MONDO:equivalentTo"} @@ -136083,10 +136889,12 @@ property_value: confidence "0.0038461538461538325" xsd:double id: MONDO:0007504 name: thickened earlobes-conductive deafness syndrome def: "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." [Orphanet:2405] +subset: gard_rare {source="GARD:2195"} subset: ordo_malformation_syndrome {source="Orphanet:2405"} synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [OMIM:128980] synonym: "Escher Hirt syndrome" RELATED [GARD:0002195] synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405] +xref: GARD:2195 {source="Orphanet:2405"} xref: ICD10CM:H90.0 {source="Orphanet:2405", source="Orphanet:2405/attributed", source="Orphanet:2405/ntbt"} xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="Orphanet:2405/e"} xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"} @@ -136119,7 +136927,7 @@ consider: MONDO:0005740 id: MONDO:0007507 name: absence of fingerprints-congenital milia syndrome def: "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." [Orphanet:1658] -subset: gard_rare +subset: gard_rare {source="GARD:2336"} subset: ordo_disease {source="Orphanet:1658"} synonym: "absence of dermatoglyphics congenital milia" RELATED [GARD:0002336] synonym: "absence of dermatoglyphics-congenital milia syndrome" EXACT [Orphanet:1658] @@ -136129,6 +136937,7 @@ synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658] synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200] synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200] xref: DOID:0080725 {source="MONDO:equivalentTo"} +xref: GARD:2336 {source="Orphanet:1658"} xref: ICD10CM:Q82.8 {source="Orphanet:1658/attributed", source="Orphanet:1658/ntbt", source="Orphanet:1658"} xref: MESH:C537659 {source="MONDO:equivalentTo"} xref: OMIM:129200 {source="Orphanet:1658/e", source="MONDO:equivalentTo", source="Orphanet:1658"} @@ -136149,7 +136958,6 @@ id: MONDO:0007508 name: Rapp-Hodgkin syndrome def: "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." [https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome, MONDO:cjm] comment: Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum {source="GARD:0005690"} -subset: gard_rare {source="GARD:0005690"} subset: speculative synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [DOID:0060330] synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400] @@ -136182,12 +136990,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5690/rapp-ho [Term] id: MONDO:0007509 name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +subset: gard_rare {source="GARD:18591"} synonym: "ECTD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:129490] synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129490] synonym: "ectodermal dysplasia hypohidrotic autosomal dominant" RELATED [GARD:0002048] synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:129490] synonym: "hypohidrotic ectodermal dysplasia autosomal dominant" RELATED [GARD:0002048] xref: DOID:0111663 {source="MONDO:equivalentTo"} +xref: GARD:18591 {source="OMIM:129490"} xref: OMIM:129490 {source="MONDO:equivalentTo"} xref: Orphanet:1810 {source="OMIM:129490"} xref: Orphanet:238468 {source="OMIM:129490"} @@ -136202,7 +137012,7 @@ id: MONDO:0007510 name: Clouston syndrome def: "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." [Orphanet:189] subset: do_inheritance_inconsistent -subset: gard_rare +subset: gard_rare {source="GARD:2056"} subset: ordo_disease {source="Orphanet:189"} synonym: "alopecia, dysplastic nails, palmar and plantar hyperkeratosis" RELATED [GARD:0004253] synonym: "autosomal dominant hidrotic ectodermal dysplasia" RELATED [GARD:0002056] @@ -136222,6 +137032,7 @@ synonym: "hidrotic ectodermal dysplasia, autosomal dominant" RELATED [GARD:00020 synonym: "palmoplantar hyperkeratosis and alopecia" RELATED [GARD:0004253] synonym: "Patel Bixler syndrome" RELATED [GARD:0004253] xref: DOID:14693 {source="MONDO:equivalentTo"} +xref: GARD:2056 {source="Orphanet:189"} xref: ICD10CM:Q82.8 {source="Orphanet:189/attributed", source="Orphanet:189/ntbt", source="Orphanet:189"} xref: MESH:D004476 {source="DOID:14693"} xref: OMIM:129500 {source="Orphanet:189/e", source="MONDO:equivalentTo", source="DOID:14693", source="GARD:0004253", source="Orphanet:189"} @@ -136240,10 +137051,11 @@ property_value: confidence "0.8888888888888886" xsd:double id: MONDO:0007511 name: ectodermal dysplasia, trichoodontoonychial type def: "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." [Orphanet:1818] -subset: gard_rare {source="GARD:0002055"} +subset: gard_rare {source="GARD:2055"} subset: ordo_malformation_syndrome {source="Orphanet:1818"} synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055] synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510] +xref: GARD:2055 {source="Orphanet:1818"} xref: ICD10CM:Q82.4 {source="Orphanet:1818", source="Orphanet:1818/attributed", source="Orphanet:1818/ntbt"} xref: MESH:C565068 {source="MONDO:equivalentTo"} xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="Orphanet:1818/e"} @@ -136278,6 +137090,7 @@ is_a: MONDO:0003847 {source="MESH:C538015/inferred"} ! hereditary disease id: MONDO:0007514 name: ectopia lentis 1, isolated, autosomal dominant def: "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15062"} synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [DOID:0111150] synonym: "ECTOL1" EXACT ABBREVIATION [DOID:0111150, MONDO:Lexical, OMIM:129600] synonym: "ectopia lentis 1, isolated, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129600] @@ -136285,6 +137098,7 @@ synonym: "ectopia lentis, familial" EXACT [OMIM:129600, OMIM:genemap2] synonym: "FBN1 isolated ectopia lentis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated ectopia lentis caused by mutation in FBN1" EXACT [MONDO:design_pattern] xref: DOID:0111150 {source="MONDO:equivalentTo"} +xref: GARD:15062 {source="OMIM:129600"} xref: OMIM:129600 {source="MONDO:equivalentTo", source="DOID:0111150"} xref: Orphanet:1885 {source="OMIM:129600"} xref: UMLS:C1851286 {source="DOID:0111150", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -136349,10 +137163,11 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0007519 name: Edinburgh malformation syndrome def: "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991." [Orphanet:1895] -subset: gard_rare {source="GARD:0002074"} +subset: gard_rare {source="GARD:2074"} subset: ordo_malformation_syndrome {source="Orphanet:1895"} synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850] synonym: "typus Edinburgensis" EXACT [Orphanet:1895] +xref: GARD:2074 {source="Orphanet:1895"} xref: ICD10CM:Q95.2 {source="Orphanet:1895/attributed", source="Orphanet:1895/ntbt", source="Orphanet:1895"} xref: MESH:C563051 {source="MONDO:equivalentTo"} xref: OMIM:129850 {source="Orphanet:1895", source="MONDO:equivalentTo", source="Orphanet:1895/e"} @@ -136368,6 +137183,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2074/edinbur id: MONDO:0007520 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 def: "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." [DOID:0060784, PMID:1424230, PMID:5454938] +subset: gard_rare {source="GARD:15063"} synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" EXACT [DOID:0060784, MONDORULE:1] synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1" RELATED [MONDO:Lexical, OMIM:129900] synonym: "EEC" RELATED ABBREVIATION [OMIM:129900] @@ -136375,6 +137191,7 @@ synonym: "EEC syndrome 1" EXACT [DOID:0060784, OMIM:129900] synonym: "EEC syndrome-1" EXACT [OMIM:129900, OMIM:genemap2] synonym: "EEC1" EXACT ABBREVIATION [DOID:0060784, MONDO:Lexical, OMIM:129900] xref: DOID:0060784 {source="MONDO:equivalentTo"} +xref: GARD:15063 {source="OMIM:129900"} xref: ICD10CM:Q82.4 {source="DOID:0060784"} xref: MESH:C565062 {source="MONDO:equivalentTo"} xref: OMIM:129900 {source="DOID:0060784", source="MONDO:equivalentTo"} @@ -136401,6 +137218,7 @@ is_obsolete: true id: MONDO:0007522 name: Ehlers-Danlos syndrome, classic type def: "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." [Orphanet:287] +subset: gard_rare {source="GARD:2088"} subset: ordo_disease {source="Orphanet:287"} synonym: "classic Ehlers-Danlos syndrome" RELATED [GARD:0002088] synonym: "classical Ehlers-Danlos syndrome" RELATED [GARD:0002088] @@ -136427,6 +137245,7 @@ synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000] +xref: GARD:2088 {source="Orphanet:287"} xref: ICD10CM:Q79.6 {source="Orphanet:287/attributed", source="Orphanet:287/ntbt", source="Orphanet:287"} xref: Orphanet:287 {source="MONDO:equivalentTo", source="OMIM:130000"} xref: Orphanet:90309 {source="OMIM:130000"} @@ -136444,6 +137263,7 @@ property_value: confidence "3.3306690738754696E-15" xsd:double id: MONDO:0007523 name: Ehlers-Danlos syndrome, hypermobility type def: "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." [Orphanet:285] +subset: gard_rare {source="GARD:2081"} subset: ordo_disease {source="Orphanet:285"} synonym: "benign hypermobility syndrome" RELATED [OMIM:130020] synonym: "benign joint hypermobility syndrome" EXACT [Orphanet:285] @@ -136463,6 +137283,7 @@ synonym: "HT-EDS" EXACT [Orphanet:285] synonym: "hypermobile EDS" RELATED [GARD:0002081] synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081] xref: DOID:14757 {source="MONDO:equivalentTo"} +xref: GARD:2081 {source="Orphanet:285"} xref: ICD10CM:Q79.6 {source="Orphanet:285", source="Orphanet:285/attributed", source="Orphanet:285/ntbt"} xref: MESH:C536196 {source="DOID:14757", source="MONDO:equivalentTo"} xref: NCIT:C125698 {source="MONDO:equivalentTo"} @@ -136501,7 +137322,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007525 name: Ehlers-Danlos syndrome, arthrochalasis type def: "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." [GARD:0002084] -subset: gard_rare {source="GARD:0002084"} +subset: gard_rare {source="GARD:2084"} subset: ordo_disease {source="Orphanet:1899"} synonym: "AEDS" RELATED ABBREVIATION [GARD:0002084] synonym: "arthrochalasia EDS" RELATED [GARD:0002084] @@ -136521,6 +137342,7 @@ synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701] synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060] synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060] xref: DOID:0080727 {source="MONDO:equivalentTo"} +xref: GARD:2084 {source="Orphanet:1899"} xref: ICD10CM:Q79.6 {source="Orphanet:1899", source="Orphanet:1899/attributed", source="Orphanet:1899/ntbt"} xref: MESH:C562625 {source="MONDO:equivalentTo"} xref: NCIT:C125701 {source="MONDO:equivalentTo"} @@ -136539,6 +137361,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2084/arthroc id: MONDO:0007526 name: Ehlers-Danlos syndrome, spondylodysplastic type def: "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." [Orphanet:75496] +subset: gard_rare {source="GARD:9991"} subset: ordo_disease {source="Orphanet:75496"} synonym: "B4GALT7-CDG" EXACT [Orphanet:75496] synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [DOID:0050802, Orphanet:75496] @@ -136562,6 +137385,7 @@ synonym: "spondylodysplastic Ehlers-Danlos syndrome" RELATED [GARD:0009991] synonym: "XGPT deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] xref: DOID:0050802 {source="MONDO:equivalentTo"} +xref: GARD:9991 {source="Orphanet:75496"} xref: ICD10CM:Q79.6 {source="Orphanet:75496/attributed", source="Orphanet:75496/ntbt", source="Orphanet:75496"} xref: MESH:C536201 {source="Orphanet:75496/e", source="MONDO:equivalentTo", source="DOID:0050802", source="Orphanet:75496"} xref: Orphanet:75496 {source="OMIM:130070", source="MONDO:equivalentTo", source="DOID:0050802"} @@ -136581,6 +137405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007527 name: Ehlers-Danlos syndrome, periodontitis type def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." [Orphanet:75392] +subset: gard_rare {source="GARD:12474"} subset: ordo_disease {source="Orphanet:75392"} synonym: "EDS 8" RELATED [OMIM:130080] synonym: "EDS VIII" EXACT [Orphanet:75392] @@ -136597,6 +137422,7 @@ synonym: "Ehlers-Danlos syndrome, type VIII (formerly)" RELATED [GARD:0012474] synonym: "pEDS" RELATED [GARD:0012474] synonym: "periodontal EDS" RELATED [GARD:0012474] synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474] +xref: GARD:12474 {source="Orphanet:75392"} xref: ICD10CM:Q79.6 {source="Orphanet:75392/attributed", source="Orphanet:75392/ntbt", source="Orphanet:75392"} xref: MESH:C562626 {source="MONDO:equivalentTo"} xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"} @@ -136620,12 +137446,13 @@ is_a: MONDO:0020066 {source="MESH:C562424"} ! Ehlers-Danlos syndrome id: MONDO:0007529 name: elastosis perforans serpiginosa comment: Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD -subset: gard_rare {source="GARD:0010103"} +subset: gard_rare {source="GARD:10103"} subset: ordo_disease {source="Orphanet:79148"} synonym: "elastoma Intrapapillare perforans verruciformis" RELATED [OMIM:130100] synonym: "elastosis perforans serpiginosa" EXACT [MONDO:Lexical, OMIM:130100] synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100] synonym: "Miescher elastoma" RELATED [OMIM:130100] +xref: GARD:10103 {source="Orphanet:79148"} xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="Orphanet:79148/ntbt", source="Orphanet:79148"} xref: MedDRA:10014338 {source="Orphanet:79148/e", source="Orphanet:79148"} xref: MESH:C536202 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"} @@ -136670,6 +137497,7 @@ is_obsolete: true id: MONDO:0007533 name: elliptocytosis 2 def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15064"} synonym: "EL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130600] synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600] synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600] @@ -136677,6 +137505,7 @@ synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600] synonym: "elliptocytosis-2" EXACT [OMIM:130600, OMIM:genemap2] synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15064 {source="OMIM:130600"} xref: MESH:C565058 {source="MONDO:equivalentTo"} xref: OMIM:130600 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="OMIM:130600"} @@ -136692,7 +137521,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007534 name: Beckwith-Wiedemann syndrome def: "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." [Orphanet:116] -subset: gard_rare {source="GARD:0003343"} +subset: gard_rare {source="GARD:3343"} subset: ordo_malformation_syndrome {source="Orphanet:116"} synonym: "Beckwith-Wiedemann syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, NCIT:C34415, OMIM:130650] synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [OMIM:130650] @@ -136703,6 +137532,7 @@ synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [OMIM:130650, Orphan synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343] xref: DOID:5572 {source="MONDO:equivalentTo"} +xref: GARD:3343 {source="Orphanet:116"} xref: ICD10CM:Q87.3 {source="Orphanet:116/ntbt", source="Orphanet:116", source="Orphanet:116/inclusion", source="DOID:5572"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050344 {source="Orphanet:116", source="Orphanet:116/e"} @@ -136738,11 +137568,13 @@ property_value: confidence "10.0" xsd:double id: MONDO:0007536 name: congenital lobar emphysema def: "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." [Orphanet:1928] +subset: gard_rare {source="GARD:2104"} subset: ordo_morphological_anomaly {source="Orphanet:1928"} synonym: "CLE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130710] synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928] synonym: "emphysema, congenital lobar" RELATED [MONDO:Lexical, OMIM:130710] synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928] +xref: GARD:2104 {source="Orphanet:1928"} xref: ICD10CM:Q33.8 {source="Orphanet:1928", source="Orphanet:1928/attributed", source="Orphanet:1928/ntbt"} xref: MedDRA:10010456 {source="Orphanet:1928", source="Orphanet:1928/e"} xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} @@ -136760,12 +137592,14 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0007537 name: lateral meningocele syndrome +subset: gard_rare {source="GARD:9873"} subset: ordo_malformation_syndrome {source="Orphanet:2789"} synonym: "lateral meningocele syndrome" EXACT [MONDO:Lexical, OMIM:130720] synonym: "Lehman syndrome" EXACT [OMIM:130720, Orphanet:2789] synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130720] synonym: "Lms" RELATED [OMIM:130720] xref: DOID:0111343 {source="MONDO:equivalentTo"} +xref: GARD:9873 {source="Orphanet:2789"} xref: ICD10CM:Q87.5 {source="Orphanet:2789", source="Orphanet:2789/attributed", source="Orphanet:2789/ntbt"} xref: MESH:C537878 {source="MONDO:equivalentTo"} xref: OMIM:130720 {source="MONDO:equivalentTo", source="Orphanet:2789", source="Orphanet:2789/e"} @@ -136814,10 +137648,11 @@ property_value: confidence "1.2580117077907054" xsd:double [Term] id: MONDO:0007539 name: encephalopathy, recurrent, of childhood -subset: gard_rare +subset: gard_rare {source="GARD:3949"} synonym: "encephalopathy recurrent of childhood" EXACT [MONDO:0023065] synonym: "encephalopathy, recurrent, of childhood" EXACT [OMIM:130950] synonym: "Neuhauser Eichner Opitz syndrome" RELATED [GARD:0003949] +xref: GARD:3949 {source="Orphanet:2672"} xref: MESH:C536407 {source="MONDO:equivalentTo"} xref: OMIM:130950 {source="MONDO:equivalentTo"} xref: Orphanet:2672 {source="MONDO:equivalentTo", source="OMIM:130950"} @@ -136833,7 +137668,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2117/encepha id: MONDO:0007540 name: multiple endocrine neoplasia type 1 def: "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." [Orphanet:652] -subset: gard_rare {source="GARD:0003829"} +subset: gard_rare {source="GARD:3829"} subset: ordo_disease {source="Orphanet:652"} synonym: "endocrine adenomatosis multiple" RELATED [GARD:0003829] synonym: "endocrine adenomatosis, multiple" RELATED [OMIM:131100] @@ -136861,6 +137696,7 @@ synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225 synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet:652] synonym: "Wermer's syndrome" EXACT [DOID:10017, NCIT:C3225] xref: DOID:10017 {source="MONDO:equivalentTo"} +xref: GARD:3829 {source="Orphanet:652"} xref: ICD10CM:D44.8 {source="Orphanet:652/attributed", source="Orphanet:652/ntbt", source="Orphanet:652"} xref: ICD10CM:E31.21 {source="DOID:10017"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -136902,6 +137738,7 @@ relationship: predisposes_towards MONDO:0005133 ! endometriosis id: MONDO:0007542 name: Camurati-Engelmann disease def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328] +subset: gard_rare {source="GARD:1072"} subset: ordo_malformation_syndrome {source="Orphanet:1328"} synonym: "CAEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131300] synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300] @@ -136915,6 +137752,7 @@ synonym: "Engelman's disease" EXACT [DOID:4997] synonym: "Engelmann disease" RELATED [OMIM:131300] synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328] xref: DOID:4997 {source="MONDO:equivalentTo"} +xref: GARD:1072 {source="Orphanet:1328"} xref: ICD10CM:Q78.3 {source="Orphanet:1328/e", source="Orphanet:1328/specific", source="DOID:4997", source="Orphanet:1328"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003966 {source="Orphanet:1328/e", source="DOID:4997", source="Orphanet:1328"} @@ -136951,7 +137789,6 @@ is_obsolete: true id: MONDO:0007544 name: eosinophilia, familial def: "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." [https://orcid.org/0000-0001-5208-3432, PMID:14176021] -subset: gard_rare {source="GARD:0010521"} synonym: "Eos" RELATED [OMIM:131400] synonym: "eosinophilia, familial" EXACT [OMIM:131400] synonym: "familial eosinophilia" RELATED [GARD:0010521] @@ -137018,7 +137855,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007548 name: transient bullous dermolysis of the newborn def: "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." [Orphanet:79411] -subset: gard_rare {source="GARD:0010010"} +subset: gard_rare {source="GARD:10010"} subset: ordo_disease {source="Orphanet:79411"} synonym: "DEB, bullous dermolysis of the newborn" EXACT [Orphanet:79411] synonym: "DEB-BDN" EXACT [Orphanet:79411] @@ -137030,6 +137867,7 @@ synonym: "TBDN" RELATED ABBREVIATION [GARD:0010010, OMIM:131705] synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMIM:131705] synonym: "transient bullous of the newborn" EXACT [OMIM:131705, OMIM:genemap2] xref: DOID:0111345 {source="MONDO:equivalentTo"} +xref: GARD:10010 {source="Orphanet:79411"} xref: ICD10CM:Q81.2 {source="Orphanet:79411/attributed", source="Orphanet:79411/ntbt", source="Orphanet:79411"} xref: MESH:C536979 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} @@ -137045,6 +137883,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10010/transi id: MONDO:0007549 name: generalized dominant dystrophic epidermolysis bullosa def: "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." [Orphanet:231568] +subset: gard_rare {source="GARD:2139"} subset: ordo_disease {source="Orphanet:231568"} synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM:131750] synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224] @@ -137066,6 +137905,7 @@ synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139] xref: DOID:0080224 {source="MONDO:equivalentTo"} +xref: GARD:2139 {source="Orphanet:231568"} xref: ICD10CM:Q81.2 {source="Orphanet:231568", source="Orphanet:231568/attributed", source="Orphanet:231568/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="Orphanet:231568/e"} @@ -137082,7 +137922,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007550 name: epidermolysis bullosa simplex 1A, generalized severe def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." [https://orcid.org/0000-0001-5208-3432, Orphanet:79396] -subset: gard_rare {source="GARD:0002141"} +subset: gard_rare {source="GARD:2141"} subset: ordo_disease {source="Orphanet:79396"} synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141] synonym: "EBS, generalised severe" EXACT OMO:0003005 [] @@ -137101,6 +137941,7 @@ synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orp synonym: "generalised severe epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735] xref: DOID:0060735 {source="MONDO:equivalentTo"} +xref: GARD:2141 {source="Orphanet:79396"} xref: ICD10CM:Q81.0 {source="Orphanet:79396/attributed", source="Orphanet:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131760 {source="Orphanet:79396/e", source="MONDO:equivalentTo", source="DOID:0060735", source="Orphanet:79396"} @@ -137117,7 +137958,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2141/epiderm id: MONDO:0007551 name: epidermolysis bullosa simplex 1C, localized def: "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." [https://orcid.org/0000-0001-5208-3432, Orphanet:79400] -subset: gard_rare {source="GARD:0002146"} +subset: gard_rare {source="GARD:2146"} subset: ordo_disease {source="Orphanet:79400"} synonym: "EBS, acral form" RELATED [OMIM:131800] synonym: "EBS-loc" EXACT [Orphanet:79400] @@ -137132,6 +137973,7 @@ synonym: "localized epidermolysis bullosa simplex" EXACT [Orphanet:79400] synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146] synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146] xref: DOID:0080510 {source="MONDO:equivalentTo"} +xref: GARD:2146 {source="Orphanet:79400"} xref: ICD10CM:Q81.0 {source="Orphanet:79400/attributed", source="Orphanet:79400/ntbt", source="Orphanet:79400"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:131800 {source="Orphanet:79400/e", source="MONDO:equivalentTo", source="Orphanet:79400"} @@ -137148,6 +137990,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2146/epiderm id: MONDO:0007552 name: pretibial dystrophic epidermolysis bullosa def: "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." [Orphanet:79410] +subset: gard_rare {source="GARD:2155"} subset: ordo_disease {source="Orphanet:79410"} synonym: "Deb, pretibial" RELATED [OMIM:131850] synonym: "DEB-Pt" EXACT [Orphanet:79410] @@ -137157,6 +138000,7 @@ synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850] synonym: "pretibial DEB" EXACT [Orphanet:79410] synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155] xref: DOID:0080988 {source="MONDO:equivalentTo"} +xref: GARD:2155 {source="Orphanet:79410"} xref: ICD10CM:Q81.2 {source="Orphanet:79410/attributed", source="Orphanet:79410/ntbt", source="Orphanet:79410"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535494 {source="MONDO:equivalentTo"} @@ -137181,6 +138025,7 @@ is_a: MONDO:0003847 {source="MESH:C565049/inferred"} ! hereditary disease id: MONDO:0007554 name: epidermolysis bullosa simplex 1B, generalized intermediate def: "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." [Orphanet:79399] +subset: gard_rare {source="GARD:2147"} subset: ordo_disease {source="Orphanet:79399"} synonym: "EBS, generalised" RELATED OMO:0003005 [] synonym: "EBS, generalised intermediate" EXACT OMO:0003005 [] @@ -137204,6 +138049,7 @@ synonym: "generalized EBS" RELATED [GARD:0002147] synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399] synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399] xref: DOID:0080511 {source="MONDO:equivalentTo"} +xref: GARD:2147 {source="Orphanet:79399"} xref: ICD10CM:Q81.0 {source="Orphanet:79399/attributed", source="Orphanet:79399/ntbt", source="Orphanet:79399"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535961 {source="Orphanet:79399/e", source="Orphanet:79399"} @@ -137220,7 +138066,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007555 name: pidermolysis bullosa simplex 5A, Ogna type def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:79401] -subset: gard_rare {source="GARD:0002148"} +subset: gard_rare {source="GARD:2148"} subset: ordo_disease {source="Orphanet:79401"} synonym: "EBS-O" EXACT [DOID:0060736, Orphanet:79401] synonym: "EBS-Og" EXACT [DOID:0060736] @@ -137228,6 +138074,7 @@ synonym: "EBSOG" EXACT ABBREVIATION [DOID:0060736, MONDO:Lexical, OMIM:131950] synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950, OMIM:genemap2] synonym: "epidermolysis bullosa simplex, Ogna type" EXACT [MONDO:Lexical, OMIM:131950] xref: DOID:0060736 {source="MONDO:equivalentTo"} +xref: GARD:2148 {source="Orphanet:79401"} xref: ICD10CM:Q81.0 {source="Orphanet:79401/attributed", source="Orphanet:79401/ntbt", source="DOID:0060736", source="Orphanet:79401"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535962 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="Orphanet:79401"} @@ -137246,7 +138093,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2148/epiderm id: MONDO:0007556 name: epidermolysis bullosa simplex 2F, with mottled pigmentation def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." [https://orcid.org/0000-0001-5208-3432, Orphanet:79397] -subset: gard_rare {source="GARD:0009737"} +subset: gard_rare {source="GARD:9737"} subset: ordo_disease {source="Orphanet:79397"} synonym: "EBS with mottled pigmentation" RELATED [GARD:0009737] synonym: "EBS-MP" EXACT [Orphanet:79397] @@ -137256,6 +138103,7 @@ synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [MONDO: synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [OMIM:131960] synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737] xref: DOID:0111346 {source="MONDO:equivalentTo"} +xref: GARD:9737 {source="Orphanet:79397"} xref: ICD10CM:Q81.0 {source="Orphanet:79397", source="Orphanet:79397/attributed", source="Orphanet:79397/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535959 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"} @@ -137292,10 +138140,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007558 name: benign occipital epilepsy def: "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." [Orphanet:25968] -subset: gard_rare {source="GARD:0002170"} +subset: gard_rare {source="GARD:2170"} subset: ordo_disease {source="Orphanet:25968"} synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090] synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090] +xref: GARD:2170 {source="Orphanet:25968"} xref: ICD10CM:G40.0 {source="Orphanet:25968/attributed", source="Orphanet:25968/ntbt", source="Orphanet:25968"} xref: OMIM:132090 {source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e"} xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"} @@ -137308,12 +138157,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2170/epileps [Term] id: MONDO:0007559 name: photoparoxysmal response 1 +subset: gard_rare {source="GARD:15065"} synonym: "epilepsy, photogenic" RELATED [OMIM:132100] synonym: "Photoconvulsive reaction" RELATED [OMIM:132100] synonym: "photoparoxysmal response 1" EXACT [MONDO:Lexical, OMIM:132100] synonym: "photosensitivity" RELATED [OMIM:132100] synonym: "Ppr" RELATED [OMIM:132100] synonym: "PPR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132100] +xref: GARD:15065 {source="OMIM:132100"} xref: OMIM:132100 {source="MONDO:equivalentTo"} xref: Orphanet:166409 {source="OMIM:132100"} xref: UMLS:C1868677 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:132100"} @@ -137323,8 +138174,10 @@ property_value: confidence "1.5185185185185186" xsd:double [Term] id: MONDO:0007560 name: reading seizures +subset: gard_rare {source="GARD:17029"} subset: ordo_disease {source="Orphanet:166433"} synonym: "epilepsy, reading" RELATED [OMIM:132300] +xref: GARD:17029 {source="Orphanet:166433"} xref: ICD10CM:G40.8 {source="Orphanet:166433/ntbt", source="Orphanet:166433"} xref: OMIM:132300 {source="Orphanet:166433", source="MONDO:equivalentTo", source="Orphanet:166433/e"} xref: Orphanet:166433 {source="MONDO:equivalentTo", source="OMIM:132300"} @@ -137336,7 +138189,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0007561 name: multiple epiphyseal dysplasia type 1 def: "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." [Orphanet:93308] -subset: gard_rare +subset: gard_rare {source="GARD:2180"} subset: ordo_disease {source="Orphanet:93308"} synonym: "COMP multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "EDM1" EXACT ABBREVIATION [GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308] @@ -137352,6 +138205,7 @@ synonym: "multiple epiphyseal dysplasia COMP-related" RELATED [GARD:0002180] synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400] synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308] xref: DOID:0070303 {source="MONDO:equivalentTo"} +xref: GARD:2180 {source="Orphanet:93308"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"} xref: MESH:C535501 {source="Orphanet:93308/e", source="Orphanet:93308"} xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="GARD:0002180", source="Orphanet:93308"} @@ -137373,12 +138227,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2180/multipl id: MONDO:0007562 name: multiple epiphyseal dysplasia, Beighton type def: "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." [Orphanet:166011] +subset: gard_rare {source="GARD:17012"} subset: ordo_disease {source="Orphanet:166011"} synonym: "EDMMD" RELATED ABBREVIATION [MESH:C565046, MONDO:Lexical, OMIM:132450] synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical, OMIM:132450] synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [OMIM:132450, OMIM:genemap2] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011] xref: DOID:0111348 {source="MONDO:equivalentTo"} +xref: GARD:17012 {source="Orphanet:166011"} xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"} xref: MESH:C565046 {source="MONDO:equivalentTo"} xref: OMIM:132450 {source="Orphanet:166011", source="MONDO:equivalentTo", source="Orphanet:166011/e", source="MEDIC:C565046"} @@ -137400,7 +138256,7 @@ is_obsolete: true id: MONDO:0007564 name: pilomatrixoma def: "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." [Orphanet:91414] -subset: gard_rare {source="GARD:0009452"} +subset: gard_rare {source="GARD:9452"} subset: ordo_malformation_syndrome {source="Orphanet:91414"} synonym: "benign hair follicle neoplasm" NARROW [NCIT:C7368] synonym: "benign pilomatricoma" NARROW [DOID:5374] @@ -137415,6 +138271,7 @@ synonym: "pilomatrixoma, benign" EXACT [NCIT:C7368] synonym: "PTR" RELATED ABBREVIATION [GARD:0009452] xref: DOID:5374 {source="MONDO:equivalentTo"} xref: EFO:0009082 {source="MONDO:equivalentTo"} +xref: GARD:9452 {source="Orphanet:91414"} xref: ICD10CM:C44.3 {source="Orphanet:91414", source="Orphanet:91414/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:91414", source="Orphanet:91414/btnt"} xref: ICDO:8110/0 {source="NCIT:C7368"} @@ -137436,6 +138293,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9452/pilomat [Term] id: MONDO:0007565 name: familial cylindromatosis +subset: gard_rare {source="GARD:9707"} subset: ordo_clinical_subtype {source="Orphanet:211"} synonym: "'turban tumor' syndrome" RELATED [OMIM:132700] synonym: "Ancell-Spiegler Cylindromas" RELATED [OMIM:132700] @@ -137449,6 +138307,7 @@ synonym: "turban tumors" RELATED [GARD:0009707] synonym: "turban tumour" EXACT OMO:0003005 [] synonym: "turban tumour syndrome" EXACT OMO:0003005 [] synonym: "turban tumours" RELATED OMO:0003005 [] +xref: GARD:9707 {source="Orphanet:211"} xref: MESH:C536611 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: NCIT:C43352 {source="MONDO:equivalentTo"} xref: OMIM:132700 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} @@ -137466,7 +138325,7 @@ property_value: confidence "2.2142272727272725" xsd:double id: MONDO:0007566 name: multiple self-healing squamous epithelioma def: "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." [Orphanet:65748] -subset: gard_rare {source="GARD:0003090"} +subset: gard_rare {source="GARD:3090"} subset: ordo_disease {source="Orphanet:65748"} synonym: "ESS1" RELATED ABBREVIATION [OMIM:132800] synonym: "ESS1 (formerly)" RELATED [GARD:0003090] @@ -137486,6 +138345,7 @@ synonym: "multiple self-healing squamous epithelioma" EXACT CLINGEN_PREFERRED [] synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical, OMIM:132800] synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748] xref: DOID:5585 {source="MONDO:equivalentTo"} +xref: GARD:3090 {source="Orphanet:65748"} xref: ICD10CM:C44.3 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} xref: ICD10CM:C44.7 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} @@ -137521,7 +138381,7 @@ is_obsolete: true id: MONDO:0007568 name: aortic aneurysm, familial thoracic 4 def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009876"} +subset: gard_rare {source="GARD:9876"} synonym: "AAT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132900] synonym: "aortic aneurysm, familial thoracic 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:132900] synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1, OMIM:132900] @@ -137529,6 +138389,7 @@ synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATE synonym: "FAA4" RELATED ABBREVIATION [OMIM:132900] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11" EXACT [MONDO:design_pattern] synonym: "MYH11 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:9876 {source="OMIM:132900"} xref: MESH:C537784 {source="MONDO:equivalentTo"} xref: OMIM:132900 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:132900"} @@ -137543,7 +138404,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9876/aortic- [Term] id: MONDO:0007569 name: erythema nodosum, familial -subset: gard_rare {source="GARD:0009259"} synonym: "erythema nodosum, familial" EXACT [OMIM:132990] synonym: "familial erythema nodosum" RELATED [GARD:0009259] xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -137557,10 +138417,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9259/familia id: MONDO:0007570 name: erythema palmare hereditarium def: "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." [Orphanet:231031] +subset: gard_rare {source="GARD:17157"} subset: ordo_disease {source="Orphanet:231031"} synonym: "erythema palmare hereditarium" EXACT [OMIM:133000] synonym: "lane disease" EXACT [Orphanet:231031] synonym: "Red palms disease" EXACT [Orphanet:231031] +xref: GARD:17157 {source="Orphanet:231031"} xref: ICD10CM:L59.8 {source="Orphanet:231031", source="Orphanet:231031/attributed", source="Orphanet:231031/ntbt"} xref: MESH:C565041 {source="MONDO:equivalentTo"} xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="Orphanet:231031/e"} @@ -137575,6 +138437,7 @@ id: MONDO:0007571 name: primary erythermalgia def: "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." [Orphanet:90026] comment: Editor note: consider link to MONDO:0016028 +subset: gard_rare {source="GARD:6377"} subset: ordo_disease {source="Orphanet:90026"} synonym: "erythermalgia, primary" RELATED [OMIM:133020] synonym: "erythromelalgia, familial" RELATED [OMIM:133020] @@ -137586,6 +138449,7 @@ synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383] synonym: "primary erythromelalgia" EXACT [NCIT:C125383] synonym: "small fiber neuropathy" RELATED [OMIM:133020, OMIM:genemap2] synonym: "small fibre neuropathy" RELATED OMO:0003005 [] +xref: GARD:6377 {source="Orphanet:90026"} xref: ICD10CM:I73.8 {source="Orphanet:90026", source="Orphanet:90026/index", source="Orphanet:90026/ntbt"} xref: NCIT:C125383 {source="MONDO:equivalentTo"} xref: OMIM:133020 {source="MONDO:equivalentTo", source="Orphanet:90026", source="Orphanet:90026/e"} @@ -137604,7 +138468,7 @@ id: MONDO:0007572 name: primary familial polycythemia due to EPO receptor mutation def: "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." [Orphanet:90042] comment: Editor note: check relation to familial polycythemia -subset: gard_rare {source="GARD:0009843"} +subset: gard_rare {source="GARD:9843"} subset: ordo_disease {source="Orphanet:90042"} synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652] synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042] @@ -137627,6 +138491,7 @@ synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042] synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orphanet:90042] synonym: "primary familial polycythemia" RELATED [Orphanet:90042] xref: DOID:0060652 {source="MONDO:equivalentTo"} +xref: GARD:9843 {source="Orphanet:90042"} xref: ICD10CM:D75.0 {source="Orphanet:90042", source="Orphanet:90042/attributed", source="Orphanet:90042/ntbt", source="DOID:0060652"} xref: ICD9:289.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:133100 {source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo", source="Orphanet:90042/e"} @@ -137648,6 +138513,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9843/familia id: MONDO:0007573 name: erythroleukemia, familial, susceptibility to def: "An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:15066"} synonym: "acute erythroleukemia, familial" RELATED [] synonym: "Di Guglielmo disease, familial" RELATED [OMIM:133180] synonym: "ERYTHROLEUKEMIA, familial" RELATED [OMIM:133180] @@ -137656,6 +138522,7 @@ synonym: "hereditary acute erythroid leukaemia" EXACT OMO:0003005 [] synonym: "hereditary acute erythroid leukemia" EXACT [MONDO:patterns/hereditary] synonym: "leukemia, acute myelogenous, M6" RELATED [OMIM:133180] xref: EFO:0000218 {source="MONDO:equivalentTo"} +xref: GARD:15066 {source="OMIM:133180"} xref: ICD9:207.0 {source="EFO:0000218"} xref: MESH:C535673 {source="EFO:0000218"} xref: MESH:C565039 {source="MONDO:equivalentTo"} @@ -137676,7 +138543,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007574 name: spinocerebellar ataxia type 34 def: "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." [Orphanet:1955] -subset: gard_rare +subset: gard_rare {source="GARD:59"} subset: ordo_disease {source="Orphanet:1955"} synonym: "erythrokeratodermia - ataxia" RELATED [GARD:0000059] synonym: "erythrokeratodermia with ataxia" EXACT [GARD:0000059, OMIM:133190, Orphanet:1955] @@ -137686,6 +138553,7 @@ synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical, OMIM:133190] synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955] synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190] xref: DOID:0050981 {source="MONDO:equivalentTo"} +xref: GARD:59 {source="Orphanet:1955"} xref: ICD10CM:G11.1 {source="Orphanet:1955/attributed", source="Orphanet:1955/ntbt", source="Orphanet:1955"} xref: MESH:C535514 {source="Orphanet:1955/e", source="Orphanet:1955"} xref: MESH:C535738 {source="Orphanet:1955/e", source="MONDO:equivalentTo", source="Orphanet:1955"} @@ -137893,8 +138761,10 @@ consider: HP:0100777 id: MONDO:0007584 name: exostoses-anetodermia-brachydactyly type E syndrome def: "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." [Orphanet:1962] +subset: gard_rare {source="GARD:2202"} subset: ordo_malformation_syndrome {source="Orphanet:1962"} synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690] +xref: GARD:2202 {source="Orphanet:1962"} xref: ICD10CM:Q87.5 {source="Orphanet:1962", source="Orphanet:1962/attributed", source="Orphanet:1962/ntbt"} xref: MESH:C565034 {source="MONDO:equivalentTo"} xref: OMIM:133690 {source="MONDO:equivalentTo", source="Orphanet:1962", source="Orphanet:1962/e"} @@ -137908,7 +138778,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007585 name: exostoses, multiple, type 1 def: "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0002204"} +subset: gard_rare {source="GARD:2204"} synonym: "diaphyseal Aclasis" RELATED [OMIM:133700] synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type 1" EXACT CLINGEN_PREFERRED [] @@ -137918,6 +138788,7 @@ synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/ synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700] synonym: "multiple osteochondromas" RELATED [OMIM:133700] synonym: "osteochondromatosis" RELATED [OMIM:133700] +xref: GARD:2204 {source="OMIM:133700"} xref: OMIM:133700 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:133700"} xref: UMLS:C0015306 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:133700"} @@ -137933,7 +138804,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2204/exostos id: MONDO:0007586 name: exostoses, multiple, type 2 def: "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." [NCIT:C18252] -subset: gard_rare {source="GARD:0002205"} +subset: gard_rare {source="GARD:2205"} synonym: "exostoses (Multiple) 2 Gene" EXACT [NCIT:C18252] synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type 2" EXACT CLINGEN_PREFERRED [] @@ -137941,6 +138812,7 @@ synonym: "exostoses, multiple, type II" RELATED [OMIM:133701] synonym: "Ext2" RELATED [OMIM:133701] synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EXT2 Gene" EXACT [NCIT:C18252] +xref: GARD:2205 {source="OMIM:133701"} xref: NCIT:C18252 {source="MONDO:equivalentTo"} xref: OMIM:133701 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:133701"} @@ -137955,12 +138827,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2205/exostos [Term] id: MONDO:0007587 name: external auditory canal atresia-vertical talus-hypertelorism syndrome +subset: gard_rare {source="GARD:4638"} subset: ordo_malformation_syndrome {source="Orphanet:3023"} synonym: "external auditory canal, bilateral atresia of, with congenital vertical talus" RELATED [OMIM:133705] synonym: "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" RELATED [GARD:0004638] synonym: "Rasmussen Johnsen Thomsen syndrome" RELATED [GARD:0004638] synonym: "Rasmussen syndrome" RELATED [OMIM:133705] synonym: "Rasmussen-Johnsen-Thomsen syndrome" EXACT [Orphanet:3023] +xref: GARD:4638 {source="Orphanet:3023"} xref: ICD10CM:Q87.8 {source="Orphanet:3023", source="Orphanet:3023/attributed", source="Orphanet:3023/ntbt"} xref: MESH:C535290 {source="Orphanet:3023", source="Orphanet:3023/e"} xref: OMIM:133705 {source="Orphanet:3023", source="MONDO:equivalentTo", source="Orphanet:3023/e"} @@ -137977,9 +138851,11 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0007588 name: extrasystoles-short stature-hyperpigmentation-microcephaly syndrome def: "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." [Orphanet:1964] +subset: gard_rare {source="GARD:2213"} subset: ordo_malformation_syndrome {source="Orphanet:1964"} synonym: "Char-Douglas-Dungan syndrome" EXACT [Orphanet:1964] synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [OMIM:133750] +xref: GARD:2213 {source="Orphanet:1964"} xref: MESH:C565032 {source="MONDO:equivalentTo"} xref: OMIM:133750 {source="MONDO:equivalentTo", source="Orphanet:1964", source="Orphanet:1964/e"} xref: Orphanet:1964 {source="MONDO:equivalentTo", source="OMIM:133750"} @@ -137991,6 +138867,7 @@ property_value: confidence "8.6" xsd:double [Term] id: MONDO:0007589 name: exudative vitreoretinopathy 1 +subset: gard_rare {source="GARD:15068"} synonym: "Criswick-Schepens syndrome" RELATED [OMIM:133780] synonym: "EVR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133780] synonym: "exudative vitreoretinopathy 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:133780] @@ -137999,6 +138876,7 @@ synonym: "exudative vitreoretinopathy, familial, autosomal dominant" RELATED [OM synonym: "FEVR, autosomal dominant" RELATED [OMIM:133780] synonym: "retinopathy of prematurity" RELATED [OMIM:133780] xref: DOID:0111412 {source="MONDO:equivalentTo"} +xref: GARD:15068 {source="OMIM:133780"} xref: MESH:C536382 {source="MONDO:equivalentTo"} xref: NCIT:C175048 {source="MONDO:equivalentTo"} xref: OMIM:133780 {source="MONDO:equivalentTo"} @@ -138013,11 +138891,13 @@ property_value: confidence "0.9347826086956526" xsd:double id: MONDO:0007590 name: hemifacial hypertrophy def: "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." [Orphanet:141145] +subset: gard_rare {source="GARD:16971"} subset: ordo_malformation_syndrome {source="Orphanet:141145"} synonym: "facial asymmetry" RELATED [OMIM:133900] synonym: "facial hemihypertrophy" RELATED [OMIM:133900] synonym: "hemifacial hyperplasia" RELATED [OMIM:133900] synonym: "hemifacial hypertrophy" EXACT [OMIM:133900] +xref: GARD:16971 {source="Orphanet:141145"} xref: ICD10CM:Q67.4 {source="Orphanet:141145/inclusion", source="Orphanet:141145", source="Orphanet:141145/ntbt"} xref: OMIM:133900 {source="MONDO:equivalentTo", source="Orphanet:141145", source="Orphanet:141145/e"} xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"} @@ -138045,9 +138925,11 @@ consider: HP:0002219 [Term] id: MONDO:0007592 name: familial recurrent peripheral facial palsy +subset: gard_rare {source="GARD:16609"} subset: ordo_disease {source="Orphanet:2809"} synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200] synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809] +xref: GARD:16609 {source="Orphanet:2809"} xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="Orphanet:2809/attributed", source="Orphanet:2809/ntbt"} xref: MESH:C565028 {source="MONDO:equivalentTo"} xref: OMIM:134200 {source="Orphanet:2809", source="MONDO:equivalentTo", source="Orphanet:2809/e"} @@ -138144,7 +139026,6 @@ relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activit id: MONDO:0007600 name: primary Fanconi syndrome def: "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." [https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome] -subset: gard_rare {source="GARD:0009118"} subset: ordo_disease {source="Orphanet:3337"} synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical, OMIM:134600] synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:134600] @@ -138163,9 +139044,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9118/primary [Term] id: MONDO:0007601 name: familial Mediterranean fever, autosomal dominant +subset: gard_rare {source="GARD:15069"} synonym: "familial Mediterranean fever, AD" EXACT [OMIM:134610, OMIM:genemap2] synonym: "familial Mediterranean fever, autosomal dominant" EXACT CLINGEN_PREFERRED [OMIM:134610] synonym: "Fmf, autosomal dominant" RELATED [OMIM:134610] +xref: GARD:15069 {source="OMIM:134610"} xref: MESH:C565021 {source="MONDO:equivalentTo"} xref: OMIM:134610 {source="MONDO:equivalentTo"} xref: Orphanet:342 {source="OMIM:134610"} @@ -138192,7 +139075,7 @@ id: MONDO:0007603 name: Felty syndrome def: "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." [Orphanet:47612] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'hematologic disorder' (MONDO:0005570) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0008234"} +subset: gard_rare {source="GARD:8234"} subset: ordo_disease {source="Orphanet:47612"} synonym: "familial Felty's syndrome" RELATED [GARD:0008234] synonym: "Felty syndrome" EXACT [DOID:11042, OMIM:134750] @@ -138202,6 +139085,7 @@ synonym: "rheumatoid arthritis, splenomegaly and neutropenia" RELATED [GARD:0008 synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphanet:47612] xref: DOID:11042 {source="EFO:0007269", source="MONDO:equivalentTo"} xref: EFO:0007269 {source="MONDO:equivalentTo"} +xref: GARD:8234 {source="Orphanet:47612"} xref: ICD10CM:M05.0 {source="Orphanet:47612", source="Orphanet:47612/ntbt", source="DOID:11042"} xref: ICD10CM:M05.00 {source="DOID:11042"} xref: ICD9:714.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11042"} @@ -138227,7 +139111,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8234/feltys- id: MONDO:0007604 name: femoral-facial syndrome def: "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." [Orphanet:1988] -subset: gard_rare {source="GARD:0000061"} +subset: gard_rare {source="GARD:61"} subset: ordo_malformation_syndrome {source="Orphanet:1988"} synonym: "femoral dysgenesis, bilateral" RELATED [GARD:0000061] synonym: "femoral facial syndrome" RELATED [GARD:0000061] @@ -138236,6 +139120,7 @@ synonym: "femoral hypoplasia-unusual facies syndrome" EXACT [OMIM:134780, Orphan synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780] synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988] +xref: GARD:61 {source="Orphanet:1988"} xref: ICD10CM:Q87.8 {source="Orphanet:1988/attributed", source="Orphanet:1988/ntbt", source="Orphanet:1988"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537916 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} @@ -138265,6 +139150,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007606 name: fibrodysplasia ossificans progressiva def: "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." [Orphanet:337] +subset: gard_rare {source="GARD:6445"} subset: ordo_disease {source="Orphanet:337"} synonym: "fibrodysplasia ossificans progressiva" EXACT [MONDO:Lexical, OMIM:135100] synonym: "fop" EXACT [MONDO:Lexical, OMIM:135100, Orphanet:337] @@ -138274,6 +139160,7 @@ synonym: "progressive ossifying myositis" EXACT [DOID:13374] synonym: "Stone Man syndrome" EXACT [DOID:13374] synonym: "Stone man syndrome" EXACT [Orphanet:337] xref: DOID:13374 {source="MONDO:equivalentTo"} +xref: GARD:6445 {source="Orphanet:337"} xref: ICD10CM:M61.1 {source="Orphanet:337", source="DOID:13374", source="Orphanet:337/e", source="Orphanet:337/specific"} xref: ICD10CM:M61.10 {source="DOID:13374"} xref: ICD9:728.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13374"} @@ -138299,6 +139186,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007607 name: obsolete Birt-Hogg-Dube syndrome +xref: GARD:2322 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -138310,6 +139198,7 @@ consider: MONDO:0800445 id: MONDO:0007608 name: desmoid tumor def: "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." [Orphanet:873] +subset: gard_rare {source="GARD:1820", source="GARD:15070"} synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873] synonym: "deep fibromatosis" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182] @@ -138325,6 +139214,8 @@ synonym: "familial infiltrative fibromatosis" RELATED [GARD:0001820] synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290] synonym: "FIF" RELATED ABBREVIATION [GARD:0001820] xref: DOID:0080366 {source="MONDO:equivalentTo"} +xref: GARD:15070 {source="OMIM:135290"} +xref: GARD:1820 {source="Orphanet:873"} xref: ICD10CM:D48.1 {source="Orphanet:873", source="Orphanet:873/ntbt"} xref: ICDO:8821/1 {source="NCIT:C9182"} xref: NCIT:C9182 {source="MONDO:equivalentTo"} @@ -138345,7 +139236,7 @@ property_value: confidence "1.416666666666667" xsd:double id: MONDO:0007609 name: fibromatosis, gingival, 1 def: "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0006509"} +subset: gard_rare {source="GARD:6509"} synonym: "fibromatosis gingival, hereditary, 1" RELATED [GARD:0006509] synonym: "fibromatosis, gingival, 1" EXACT [MONDO:Lexical, OMIM:135300] synonym: "fibromatosis, gingival, hereditary" RELATED [OMIM:135300] @@ -138360,6 +139251,7 @@ synonym: "hereditary gingival fibromatosis, 1" RELATED [GARD:0006509] synonym: "HGF1" RELATED ABBREVIATION [GARD:0006509] synonym: "SOS1 gingival fibromatosis" EXACT [MONDO:design_pattern] synonym: "SOS1 hereditary gingival fibromatosis" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:6509 {source="OMIM:135300"} xref: OMIM:135300 {source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="OMIM:135300"} xref: UMLS:C0399440 {source="OMIM:135300"} @@ -138375,7 +139267,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6509/gingiva id: MONDO:0007610 name: gingival fibromatosis-hypertrichosis syndrome def: "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." [Orphanet:2026] -subset: gard_rare +subset: gard_rare {source="GARD:2324"} subset: ordo_malformation_syndrome {source="Orphanet:2026"} synonym: "CGHT" EXACT ABBREVIATION [Orphanet:2026] synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400] @@ -138395,6 +139287,7 @@ synonym: "hypertrichosis, congenital generalized, with gingival hyperplasia" EXA synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical, OMIM:135400] synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] +xref: GARD:2324 {source="Orphanet:2026"} xref: ICD10CM:L68.8 {source="Orphanet:2026/attributed", source="Orphanet:2026/ntbt", source="Orphanet:2026"} xref: MESH:C565016 {source="MONDO:equivalentTo"} xref: OMIM:135400 {source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo", source="Orphanet:2026/e"} @@ -138417,6 +139310,7 @@ replaced_by: MONDO:0000200 id: MONDO:0007612 name: gingival fibromatosis-progressive deafness syndrome def: "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." [Orphanet:2027] +subset: gard_rare {source="GARD:3056"} subset: ordo_malformation_syndrome {source="Orphanet:2027"} synonym: "familial gingival fibromatosis associated with progressive deafness" RELATED [GARD:0003056] synonym: "fibromatosis, gingival, with progressive deafness" RELATED [OMIM:135550] @@ -138424,6 +139318,7 @@ synonym: "GFD" RELATED ABBREVIATION [GARD:0003056] synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056] synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550] synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027] +xref: GARD:3056 {source="Orphanet:2027"} xref: ICD10CM:H90.3 {source="Orphanet:2027/attributed", source="Orphanet:2027/ntbt", source="Orphanet:2027"} xref: MESH:C535886 {source="MONDO:equivalentTo"} xref: OMIM:135550 {source="Orphanet:2027", source="MONDO:equivalentTo", source="Orphanet:2027/e"} @@ -138443,6 +139338,7 @@ replaced_by: MONDO:0006761 [Term] id: MONDO:0007614 name: congenital fibrosis of extraocular muscles +subset: gard_rare {source="GARD:12590"} subset: ordo_disease {source="Orphanet:45358"} subset: prototype_pattern synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700] @@ -138457,6 +139353,7 @@ synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE: synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] synonym: "Tukel syndrome" NARROW [DOID:0080143] xref: DOID:0080143 {source="MONDO:equivalentTo"} +xref: GARD:12590 {source="Orphanet:45358"} xref: ICD10CM:H49.8 {source="Orphanet:45358", source="Orphanet:45358/attributed", source="Orphanet:45358/ntbt"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:135700 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -138476,7 +139373,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135700"} ! inheri id: MONDO:0007615 name: laurin-Sandrow syndrome def: "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." [Orphanet:2378] -subset: gard_rare {source="GARD:0000155"} +subset: gard_rare {source="GARD:155"} subset: ordo_malformation_syndrome {source="Orphanet:2378"} synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [OMIM:135750] synonym: "fibula ulna duplication tibia radius absence" RELATED [GARD:0000155] @@ -138490,6 +139387,7 @@ synonym: "mirror-Image polydactyly" RELATED [OMIM:135750] synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378] synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750] xref: DOID:0111350 {source="MONDO:equivalentTo"} +xref: GARD:155 {source="Orphanet:2378"} xref: ICD10CM:Q87.2 {source="Orphanet:2378/attributed", source="Orphanet:2378/ntbt", source="Orphanet:2378"} xref: MESH:C535689 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: OMIM:135750 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} @@ -138517,7 +139415,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007617 name: Coffin-Siris syndrome 1 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." [MONDO:patterns/OMIM_disease_series_by_gene] -subset: gard_rare {source="GARD:0009945"} +subset: gard_rare {source="GARD:15072"} synonym: "ARID1B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "autosomal dominant mental retardation 12" EXACT DEPRECATED [DOID:0070042] synonym: "COFFIN-SIRIS syndrome" RELATED [MONDO:Lexical, OMIM:135900] @@ -138533,6 +139431,7 @@ synonym: "mental retardation, autosomal dominant 12" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:614562] synonym: "MRD12" EXACT ABBREVIATION [DOID:0070042, MONDO:Lexical, OMIM:614562] xref: DOID:0070042 {source="MONDO:equivalentTo"} +xref: GARD:15072 {source="OMIM:135900"} xref: MESH:C538391 {source="MONDO:equivalentTo"} xref: OMIM:135900 {source="DOID:0070042", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:609943 {source="MONDO:equivalentObsolete"} @@ -138555,9 +139454,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9945/hypertr id: MONDO:0007618 name: Eng-Strom syndrome def: "Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." [Orphanet:1937] +subset: gard_rare {source="GARD:2123"} subset: ordo_malformation_syndrome {source="Orphanet:1937"} synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [OMIM:135950] synonym: "short stature-locking fingers syndrome" EXACT [Orphanet:1937] +xref: GARD:2123 {source="Orphanet:1937"} xref: ICD10CM:Q87.1 {source="Orphanet:1937/attributed", source="Orphanet:1937/ntbt", source="Orphanet:1937"} xref: OMIM:135950 {source="Orphanet:1937/e", source="MONDO:equivalentTo", source="Orphanet:1937"} xref: Orphanet:1937 {source="MONDO:equivalentTo", source="OMIM:135950"} @@ -138571,6 +139472,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0007619 name: isolated congenital adermatoglyphia def: "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." [Orphanet:289465] +subset: gard_rare {source="GARD:12550"} subset: ordo_disease {source="Orphanet:289465"} synonym: "absence of fingerprints" BROAD [DOID:0111357, GARD:0012550] synonym: "ADERM" EXACT ABBREVIATION [DOID:0111357, MONDO:Lexical, OMIM:136000] @@ -138581,6 +139483,7 @@ synonym: "fingerprints, absence of" BROAD [OMIM:136000] synonym: "immigration delay disease" EXACT [DOID:0111357, Orphanet:289465] synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357] xref: DOID:0111357 {source="MONDO:equivalentTo"} +xref: GARD:12550 {source="Orphanet:289465"} xref: ICD10CM:Q82.8 {source="Orphanet:289465/attributed", source="Orphanet:289465/ntbt", source="Orphanet:289465"} xref: MESH:C565010 {source="MONDO:equivalentTo"} xref: OMIM:136000 {source="Orphanet:289465", source="MONDO:equivalentTo", source="Orphanet:289465/e", source="DOID:0111357"} @@ -138598,7 +139501,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007620 name: fish eye disease def: "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." [Orphanet:79292] -subset: gard_rare {source="GARD:0006450"} +subset: gard_rare {source="GARD:6450"} subset: ordo_clinical_subtype {source="Orphanet:79292"} synonym: "alpha-LCAT deficiency" RELATED [OMIM:136120] synonym: "alpha-lecithin cholesterol acyltransferase deficiency" RELATED [GARD:0006450] @@ -138609,6 +139512,7 @@ synonym: "fish eye disease" EXACT [MONDO:Lexical, OMIM:136120] synonym: "fish-eye disease" RELATED [OMIM:136120] synonym: "LCATA deficiency" RELATED [OMIM:136120] synonym: "partial LCAT deficiency" EXACT [Orphanet:79292] +xref: GARD:6450 {source="Orphanet:79292"} xref: ICD10CM:E78.6 {source="Orphanet:79292/attributed", source="Orphanet:79292/ntbt", source="Orphanet:79292"} xref: MESH:C538467 {source="Orphanet:79292", source="Orphanet:79292/e"} xref: OMIM:136120 {source="Orphanet:79292", source="MONDO:equivalentTo", source="Orphanet:79292/e"} @@ -138625,7 +139529,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6450/fish-ey id: MONDO:0007621 name: Floating-Harbor syndrome def: "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." [Orphanet:2044] -subset: gard_rare {source="GARD:0006455"} +subset: gard_rare {source="GARD:6455"} subset: ordo_malformation_syndrome {source="Orphanet:2044"} synonym: "FHS" RELATED ABBREVIATION [GARD:0006455] synonym: "FLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136140] @@ -138634,6 +139538,7 @@ synonym: "floating-Harbor syndrome" EXACT [MONDO:Lexical, OMIM:136140] synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455] synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455] xref: DOID:0111358 {source="MONDO:equivalentTo"} +xref: GARD:6455 {source="Orphanet:2044"} xref: ICD10CM:Q87.8 {source="Orphanet:2044", source="Orphanet:2044/attributed", source="Orphanet:2044/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} @@ -138674,11 +139579,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007624 name: Flynn-Aird syndrome def: "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." [https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome] -subset: gard_rare {source="GARD:0002347"} +subset: gard_rare {source="GARD:2347"} subset: ordo_disease {source="Orphanet:2047"} synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental" RELATED [GARD:0002347] synonym: "Flynn Aird syndrome" RELATED [GARD:0002347] synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300] +xref: GARD:2347 {source="Orphanet:2047"} xref: ICD10CM:Q87.8 {source="Orphanet:2047", source="Orphanet:2047/attributed", source="Orphanet:2047/ntbt"} xref: MESH:C537066 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} xref: OMIM:136300 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} @@ -138704,13 +139610,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007626 name: familial congenital palsy of trochlear nerve def: "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare {source="GARD:0010355"} +subset: gard_rare {source="GARD:10355"} subset: ordo_disease {source="Orphanet:91498"} synonym: "fourth cranial nerve palsy, familial congenital" RELATED [OMIM:136480] synonym: "hereditary fourth cranial nerve palsy" EXACT [MONDO:patterns/hereditary] synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480] synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480] synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480] +xref: GARD:10355 {source="Orphanet:91498"} xref: ICD10CM:H49.1 {source="Orphanet:91498", source="Orphanet:91498/attributed", source="Orphanet:91498/ntbt"} xref: MESH:C565007 {source="MONDO:equivalentTo"} xref: OMIM:136480 {source="MONDO:equivalentTo", source="Orphanet:91498", source="Orphanet:91498/e"} @@ -138728,6 +139635,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10355/famili id: MONDO:0007627 name: focal facial dermal dysplasia type I def: "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." [Orphanet:79133] +subset: gard_rare {source="GARD:16524"} subset: ordo_clinical_subtype {source="Orphanet:79133"} synonym: "bitemporal aplasia cutis congenita" EXACT [Orphanet:79133] synonym: "Brauer syndrome" EXACT [Orphanet:79133] @@ -138737,6 +139645,7 @@ synonym: "FFDD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133] synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500] +xref: GARD:16524 {source="Orphanet:79133"} xref: ICD10CM:Q82.8 {source="Orphanet:79133", source="Orphanet:79133/attributed", source="Orphanet:79133/ntbt"} xref: MESH:C536385 {source="Orphanet:79133/e", source="Orphanet:79133"} xref: MESH:C537068 {source="Orphanet:79133/e", source="Orphanet:79133"} @@ -138787,7 +139696,7 @@ id: MONDO:0007630 name: North Carolina macular dystrophy def: "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." [Orphanet:75327] comment: OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. -subset: gard_rare {source="GARD:0009179"} +subset: gard_rare {source="GARD:9179"} subset: ordo_disease {source="Orphanet:75327"} synonym: "CAPE dystrophy" EXACT [Orphanet:75327] synonym: "caped" EXACT [Orphanet:75327] @@ -138806,6 +139715,7 @@ synonym: "North Carolina macular dystrophy, retinal 1" EXACT [Orphanet:75327] synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327] synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179] synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550] +xref: GARD:9179 {source="Orphanet:75327"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"} xref: MESH:C537835 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} @@ -138880,11 +139790,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007635 name: Frasier syndrome def: "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." [Orphanet:347] -subset: gard_rare {source="GARD:0002375"} +subset: gard_rare {source="GARD:2375"} subset: ordo_disease {source="Orphanet:347"} synonym: "Frasier syndrome" EXACT [OMIM:136680] synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:136680, OMIM:genemap2] xref: DOID:0050438 {source="MONDO:equivalentTo"} +xref: GARD:2375 {source="Orphanet:347"} xref: ICD10CM:N04.1 {source="Orphanet:347/attributed", source="Orphanet:347/ntbt", source="Orphanet:347"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} @@ -138911,6 +139822,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2375/frasier id: MONDO:0007636 name: frontorhiny def: "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." [Orphanet:391474] +subset: gard_rare {source="GARD:12642"} subset: ordo_malformation_syndrome {source="Orphanet:391474"} synonym: "ALX3-related frontonasal dysplasia" EXACT [Orphanet:391474] synonym: "FND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136760] @@ -138923,6 +139835,7 @@ synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474] synonym: "isolated median cleft syndrome" RELATED [GARD:0012642] synonym: "median Facial cleft syndrome" RELATED [OMIM:136760] xref: DOID:0081045 {source="MONDO:equivalentTo"} +xref: GARD:12642 {source="Orphanet:391474"} xref: ICD10CM:Q75.8 {source="Orphanet:391474", source="Orphanet:391474/attributed", source="Orphanet:391474/ntbt"} xref: NCIT:C129028 {source="MONDO:equivalentTo"} xref: OMIM:136760 {source="MONDO:equivalentTo", source="Orphanet:391474", source="Orphanet:391474/e"} @@ -138937,12 +139850,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007637 name: corneal dystrophy, Fuchs endothelial, 1 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18216"} synonym: "COL8A2 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "corneal dystrophy, Fuchs endothelial, 1" EXACT [MONDO:Lexical, OMIM:136800] synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [OMIM:136800] synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1, OMIM:136800] synonym: "FECD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136800] synonym: "Fuchs' endothelial dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern] +xref: GARD:18216 {source="OMIM:136800"} xref: MESH:C535478 {source="MONDO:equivalentTo"} xref: OMIM:136800 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:136800"} @@ -138966,11 +139881,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007639 name: fundus albipunctatus def: "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." [Orphanet:227796] +subset: gard_rare {source="GARD:13809"} subset: ordo_disease {source="Orphanet:227796"} synonym: "fundus albipunctatus" EXACT [OMIM:136880] synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM:362.74] synonym: "retinitis punctata albescens" BROAD [DOID:11105, OMIM:136880] xref: DOID:11105 {source="MONDO:equivalentTo"} +xref: GARD:13809 {source="Orphanet:227796"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"} xref: ICD10CM:H35.52 {source="DOID:11105"} xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -138991,6 +139908,7 @@ property_value: confidence "2.8000000000000003" xsd:double id: MONDO:0007640 name: Sorsby fundus dystrophy def: "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." [Orphanet:59181] +subset: gard_rare {source="GARD:10511", source="GARD:16480"} subset: ordo_disease {source="Orphanet:59181"} synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [OMIM:136900] synonym: "hemorrhagic macular dystrophy" EXACT [DOID:0090114] @@ -139002,6 +139920,8 @@ synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [Orphanet:59181] synonym: "Sorsby's fundus dystrophy" EXACT [DOID:0090114] synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511] xref: DOID:0090114 {source="MONDO:equivalentTo"} +xref: GARD:10511 {source="OMIM:136900"} +xref: GARD:16480 {source="Orphanet:59181"} xref: ICD10CM:H35.5 {source="Orphanet:59181/attributed", source="Orphanet:59181/ntbt", source="Orphanet:59181"} xref: MESH:C564992 {source="MONDO:equivalentTo"} xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="Orphanet:59181/e"} @@ -139028,8 +139948,10 @@ is_obsolete: true [Term] id: MONDO:0007642 name: isolated agenesis of gallbladder +subset: gard_rare {source="GARD:21844"} subset: ordo_morphological_anomaly {source="Orphanet:440987"} synonym: "gallbladder, agenesis OF" RELATED [OMIM:137040] +xref: GARD:21844 {source="Orphanet:440987"} xref: ICD10CM:Q44.0 {source="Orphanet:440987/ntbt", source="Orphanet:440987"} xref: MESH:C562564 {source="MONDO:equivalentTo"} xref: OMIM:137040 {source="MONDO:equivalentTo"} @@ -139088,6 +140010,7 @@ is_obsolete: true id: MONDO:0007646 name: Gamstorp-Wohlfart syndrome def: "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:324442] +subset: gard_rare {source="GARD:12353"} subset: ordo_disease {source="Orphanet:324442"} synonym: "ARAN-NM" EXACT [Orphanet:324442] synonym: "ARCMT2-NM" EXACT [Orphanet:324442] @@ -139100,6 +140023,7 @@ synonym: "myokymia, myotonia, and muscle wasting" RELATED [OMIM:137200] synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:137200] synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200] xref: DOID:0050526 {source="MONDO:equivalentTo"} +xref: GARD:12353 {source="Orphanet:324442"} xref: ICD10CM:G60.0 {source="Orphanet:324442/attributed", source="Orphanet:324442/ntbt", source="Orphanet:324442"} xref: OMIM:137200 {source="Orphanet:324442/e", source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442"} xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"} @@ -139124,7 +140048,7 @@ id: MONDO:0007648 name: hereditary diffuse gastric adenocarcinoma def: "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." [NCIT:C43295] subset: clingen -subset: gard_rare {source="GARD:0010900"} +subset: gard_rare {source="GARD:10900"} subset: ordo_disease {source="Orphanet:26106"} synonym: "diffuse gastric cancer" RELATED [GARD:0010334] synonym: "familial diffuse cancer of stomach" EXACT [Orphanet:26106] @@ -139138,6 +140062,7 @@ synonym: "signet cell adenocarcinoma" RELATED [GARD:0010334] synonym: "signet ring cell gastric carcinoma" RELATED [GARD:0010334] synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334] xref: DOID:0080764 {source="MONDO:equivalentTo"} +xref: GARD:10900 {source="Orphanet:26106"} xref: ICD10CM:C16.9 {source="Orphanet:26106/nd", source="Orphanet:26106/attributed", source="Orphanet:26106"} xref: NCIT:C43295 {source="MONDO:equivalentTo"} xref: Orphanet:26106 {source="MONDO:equivalentTo", source="OMIM:137215"} @@ -139170,6 +140095,7 @@ is_obsolete: true id: MONDO:0007650 name: MALT lymphoma def: "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" [NCIT:C3898] +subset: gard_rare {source="GARD:6485"} subset: ordo_disease {source="Orphanet:52417"} synonym: "Extranodal marginal zone B-cell lymphoma" EXACT [Orphanet:52417] synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898] @@ -139189,6 +140115,7 @@ synonym: "mucosa-associated lymphatic tissue lymphoma" EXACT [Orphanet:52417] synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO:patterns/location, NCIT:C3898, Orphanet:52417] xref: DOID:0050909 {source="MONDO:equivalentTo", source="EFO:0000191"} xref: EFO:0000191 {source="MONDO:equivalentTo"} +xref: GARD:6485 {source="Orphanet:52417"} xref: ICD10CM:C88.4 {source="Orphanet:52417", source="Orphanet:52417/e"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9699/3 {source="NCIT:C3898"} @@ -139211,10 +140138,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007651 name: gastrocutaneous syndrome -subset: gard_rare {source="GARD:0002438"} +subset: gard_rare {source="GARD:2438"} subset: ordo_disease {source="Orphanet:2069"} synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270] synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270] +xref: GARD:2438 {source="Orphanet:2069"} xref: MESH:C535651 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: OMIM:137270 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"} @@ -139227,6 +140155,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2438/gastroc id: MONDO:0007652 name: gastric mucosal hypertrophy def: "A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." [https://orcid.org/0000-0001-5208-3432, Orphanet:2494] +subset: gard_rare {source="GARD:2436"} subset: ordo_disease {source="Orphanet:2494"} synonym: "familial giant hypertrophic gastritis" EXACT [DOID:8757] synonym: "gastritis, familial giant hypertrophic" RELATED [OMIM:137280] @@ -139244,6 +140173,7 @@ synonym: "Menetrier's disease" EXACT [NCIT:C67277] synonym: "Ménétrier disease" EXACT [NCIT:C67277] xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"} xref: EFO:1000946 {source="MONDO:equivalentTo"} +xref: GARD:2436 {source="Orphanet:2494"} xref: ICD10CM:K29.6 {source="DOID:8757", source="Orphanet:2494/ntbt", source="Orphanet:2494"} xref: ICD9:535.2 {source="DOID:8757", source="EFO:1000946"} xref: ICD9:535.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -139266,7 +140196,6 @@ property_value: confidence "3.2857142857142856" xsd:double [Term] id: MONDO:0007653 name: genochondromatosis -subset: gard_rare {source="GARD:0010621"} subset: prototype_pattern synonym: "genochondromatosis" EXACT [OMIM:137360] xref: MESH:C563215 {source="MONDO:equivalentTo"} @@ -139285,7 +140214,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10621/genoch [Term] id: MONDO:0007654 name: genu valgum, st. Helena familial -subset: gard_rare {source="GARD:0008429"} synonym: "genu valgum, hereditary pubertal" RELATED [OMIM:137370] synonym: "genu valgum, st Helena familial" RELATED [GARD:0008429] synonym: "genu valgum, st. Helena familial" EXACT [OMIM:137370] @@ -139333,6 +140261,7 @@ id: MONDO:0007656 name: Gerstmann-Straussler-Scheinker syndrome def: "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." [NCIT:P378] comment: Editor note: MESH considers as two diseases +subset: gard_rare {source="GARD:7690"} subset: ordo_disease {source="Orphanet:356"} synonym: "amyloidosis cerebral with spongiform encephalopathy" RELATED [GARD:0007690] synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [OMIM:137440] @@ -139348,6 +140277,7 @@ synonym: "GSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137440] synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440] synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356] xref: DOID:4249 {source="MONDO:equivalentTo"} +xref: GARD:7690 {source="Orphanet:356"} xref: ICD10CM:A81.8 {source="Orphanet:356", source="Orphanet:356/attributed", source="Orphanet:356/ntbt"} xref: ICD10CM:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"} xref: ICD9:046.71 {source="DOID:4249"} @@ -139396,6 +140326,7 @@ consider: MONDO:0007954 id: MONDO:0007660 name: familial ossifying fibroma def: "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:17713"} subset: ordo_disease {source="Orphanet:435329"} synonym: "cemental dysplasia, periapical" RELATED [OMIM:137575] synonym: "Cementomas, familial multiple" RELATED [OMIM:137575] @@ -139404,6 +140335,7 @@ synonym: "hereditary ossifying fibroma (disease)" EXACT [MONDO:patterns/heredita synonym: "intracortical fibrous dysplasia" RELATED [GARD:0010887] synonym: "Jaffe-Campanacci syndrome" RELATED [GARD:0010887] synonym: "multiple ossifying fibroma" EXACT [Orphanet:435329] +xref: GARD:17713 {source="Orphanet:435329"} xref: ICD10CM:D16.4 {source="Orphanet:435329", source="Orphanet:435329/attributed", source="Orphanet:435329/ntbt"} xref: MESH:C563017 {source="MONDO:equivalentTo"} xref: OMIM:137575 {source="MONDO:equivalentTo", source="Orphanet:435329", source="Orphanet:435329/e"} @@ -139459,6 +140391,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007662 name: anterior segment dysgenesis 4 def: "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:3026"} synonym: "anterior segment dysgenesis 4" EXACT [OMIM:137600] synonym: "ASGD4" RELATED ABBREVIATION [OMIM:137600] synonym: "IRID2" EXACT ABBREVIATION [GARD:0003026, MONDO:Lexical, OMIM:137600] @@ -139469,6 +140402,7 @@ synonym: "iridogoniodysgenesis, type 2" EXACT [MONDO:Lexical, OMIM:137600] synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [OMIM:137600] synonym: "PITX2 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080609 {source="MONDO:equivalentTo"} +xref: GARD:3026 {source="OMIM:137600"} xref: OMIM:137600 {source="MONDO:equivalentTo"} xref: Orphanet:91483 {source="OMIM:137600"} xref: UMLS:C1842031 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137600"} @@ -139493,6 +140427,7 @@ is_a: MONDO:0005041 {source="DC-OMIM:137700", source="MESH:C564235/inferred", so id: MONDO:0007664 name: glaucoma 1, open angle, A def: "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9485"} synonym: "glaucoma 1, open angle, 50" RELATED [OMIM:137750] synonym: "glaucoma 1, open angle, A" EXACT [MONDO:Lexical, OMIM:137750] synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1, OMIM:137750] @@ -139507,6 +140442,7 @@ synonym: "juvenile open angle glaucoma caused by mutation in MYOC" EXACT [] synonym: "MYOC juvenile glaucoma" EXACT [MONDO:design_pattern] synonym: "MYOC juvenile open angle glaucoma" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "primary open angle glaucoma juvenile onset 1" RELATED [GARD:0009485] +xref: GARD:9485 {source="OMIM:137750"} xref: MESH:C564234 {source="MONDO:equivalentTo"} xref: OMIM:137750 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="OMIM:137750"} @@ -139547,10 +140483,11 @@ is_obsolete: true id: MONDO:0007666 name: glaucoma-sleep apnea syndrome def: "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." [Orphanet:2085] -subset: gard_rare +subset: gard_rare {source="GARD:2483"} subset: ordo_disease {source="Orphanet:2085"} synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763] synonym: "glaucoma sleep apnea" RELATED [GARD:0002483] +xref: GARD:2483 {source="Orphanet:2085"} xref: MESH:C564232 {source="MONDO:equivalentTo"} xref: OMIM:137763 {source="Orphanet:2085/e", source="MONDO:equivalentTo", source="Orphanet:2085", source="GARD:0002483"} xref: Orphanet:2085 {source="MONDO:equivalentTo", source="OMIM:137763", source="GARD:0002483"} @@ -139563,6 +140500,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2483/glaucom id: MONDO:0007667 name: subependymoma def: "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." [Orphanet:251639] +subset: gard_rare {source="GARD:10070"} subset: ordo_histopathological_subtype {source="Orphanet:251639"} subset: prototype_pattern synonym: "mixed subependymoma-ependymoma" EXACT [DOID:4843] @@ -139578,6 +140516,7 @@ synonym: "WHO grade I ependymal tumour" EXACT OMO:0003005 [] xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"} xref: EFO:1000553 {source="MONDO:equivalentTo"} xref: EFO:1001197 {source="MONDO:equivalentTo"} +xref: GARD:10070 {source="Orphanet:251639"} xref: ICD10CM:D43.2 {source="Orphanet:251639", source="Orphanet:251639/ntbt"} xref: ICDO:9383/1 {source="NCIT:C3795"} xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"} @@ -139604,7 +140543,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007669 name: renal cysts and diabetes syndrome def: "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." [Orphanet:93111] -subset: gard_rare {source="GARD:0010221"} +subset: gard_rare {source="GARD:10221"} subset: ordo_disease {source="Orphanet:93111"} synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [DOID:0111101] synonym: "atypical FJHN" EXACT [DOID:0111101] @@ -139632,6 +140571,7 @@ synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orph synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111] xref: DECIPHER:47 {source="MONDO:equivalentTo"} xref: DOID:0111101 {source="MONDO:equivalentTo"} +xref: GARD:10221 {source="Orphanet:93111"} xref: ICD10CM:E11.2 {source="Orphanet:93111", source="Orphanet:93111/attributed", source="Orphanet:93111/ntbt"} xref: MESH:C535520 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e"} xref: NCIT:C123018 {source="MONDO:equivalentTo"} @@ -139650,8 +140590,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10221/maturi id: MONDO:0007670 name: hypotrichosis-lymphedema-telangiectasia syndrome (grouping) def: "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." [] +subset: gard_rare {source="GARD:12827"} subset: ordo_disease {source="Orphanet:69735"} synonym: "hypotrichosis lymphedema telangiectasia syndrome" RELATED [GARD:0012827] +xref: GARD:12827 {source="Orphanet:69735"} xref: Orphanet:2087 {source="OMIM:137940"} xref: Orphanet:69735 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -139663,7 +140605,7 @@ id: MONDO:0007671 name: fibronectin glomerulopathy def: "A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:84090] comment: Editor note: consider splitting out type 1, and also separate class for giant subtype -subset: gard_rare +subset: gard_rare {source="GARD:15019"} subset: ordo_disease {source="Orphanet:84090"} subset: prototype_pattern synonym: "fibronectin glomerulopathy" EXACT [MESH:C536826] @@ -139676,6 +140618,7 @@ synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MON synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826] synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826] synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826] +xref: GARD:15019 {source="Orphanet:84090"} xref: ICD10CM:N07.6 {source="Orphanet:84090", source="Orphanet:84090/attributed", source="Orphanet:84090/ntbt"} xref: MESH:C536826 {source="MONDO:equivalentTo"} xref: MESH:C562900 {source="MONDO:equivalentTo"} @@ -139692,6 +140635,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9268/glomeru id: MONDO:0007672 name: glomuvenous malformation def: "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." [Orphanet:83454] +subset: gard_rare {source="GARD:16728"} subset: ordo_malformation_syndrome {source="Orphanet:83454"} synonym: "familial glomangioma" EXACT [MONDO:0004424, NCIT:C5350] synonym: "glomangiomas, multiple" RELATED [OMIM:138000] @@ -139707,6 +140651,7 @@ synonym: "multiple glomus tumours" EXACT OMO:0003005 [] synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454] synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454] xref: DOID:7996 {source="MONDO:equivalentTo"} +xref: GARD:16728 {source="Orphanet:83454"} xref: ICD10CM:Q27.8 {source="Orphanet:83454/attributed", source="Orphanet:83454/ntbt", source="Orphanet:83454"} xref: MedDRA:10018381 {source="Orphanet:83454", source="Orphanet:83454/e"} xref: MESH:C536827 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} @@ -139788,12 +140733,13 @@ is_obsolete: true id: MONDO:0007679 name: GMS syndrome def: "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." [Orphanet:2090] -subset: gard_rare {source="GARD:0002523"} +subset: gard_rare {source="GARD:2523"} subset: ordo_malformation_syndrome {source="Orphanet:2090"} synonym: "GMS syndrome" EXACT [OMIM:138770] synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELATED [OMIM:138770] synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [OMIM:138770] synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090] +xref: GARD:2523 {source="Orphanet:2090"} xref: ICD10CM:Q87.8 {source="Orphanet:2090", source="Orphanet:2090/attributed", source="Orphanet:2090/ntbt"} xref: MESH:C564214 {source="MONDO:equivalentTo"} xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="Orphanet:2090/e"} @@ -139812,6 +140758,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2523/gms-syn id: MONDO:0007680 name: multinodular goiter-cystic kidney-polydactyly syndrome def: "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." [Orphanet:2091] +subset: gard_rare {source="GARD:1671"} subset: ordo_malformation_syndrome {source="Orphanet:2091"} synonym: "Daneman Davy Mancer syndrome" RELATED [GARD:0001671] synonym: "Daneman-Davy-Mancer syndrome" EXACT [Orphanet:2091] @@ -139822,6 +140769,7 @@ synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELA synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790] synonym: "multinodular goitre - cystic kidney - polydactyly" RELATED OMO:0003005 [] synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091] +xref: GARD:1671 {source="Orphanet:2091"} xref: ICD10CM:Q87.8 {source="Orphanet:2091", source="Orphanet:2091/attributed", source="Orphanet:2091/ntbt"} xref: MESH:C535986 {source="MONDO:equivalentTo"} xref: OMIM:138790 {source="MONDO:equivalentTo", source="Orphanet:2091", source="Orphanet:2091/e"} @@ -139837,6 +140785,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007681 name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors def: "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17278"} subset: ordo_disease {source="Orphanet:276399"} synonym: "euthyroid goiter" BROAD [OMIM:138800] synonym: "euthyroid goitre" BROAD OMO:0003005 [] @@ -139848,6 +140797,7 @@ synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800] synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800] synonym: "simple goiter" BROAD [OMIM:138800] synonym: "simple goitre" BROAD OMO:0003005 [] +xref: GARD:17278 {source="Orphanet:276399"} xref: ICD10CM:E04.2 {source="Orphanet:276399/attributed", source="Orphanet:276399/ntbt", source="Orphanet:276399"} xref: ICD9:240.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562732 {source="MONDO:equivalentTo"} @@ -139881,10 +140831,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007683 name: Grant syndrome def: "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." [Orphanet:2097] -subset: gard_rare {source="GARD:0002559"} +subset: gard_rare {source="GARD:2559"} subset: ordo_malformation_syndrome {source="Orphanet:2097"} synonym: "Grant syndrome" EXACT [OMIM:138930] synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559] +xref: GARD:2559 {source="Orphanet:2097"} xref: ICD10CM:Q87.5 {source="Orphanet:2097/attributed", source="Orphanet:2097/ntbt", source="Orphanet:2097"} xref: MESH:C537293 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: OMIM:138930 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} @@ -139920,7 +140871,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007686 name: gray platelet syndrome def: "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." [Orphanet:721] -subset: gard_rare {source="GARD:0002562"} +subset: gard_rare {source="GARD:2562"} subset: ordo_disease {source="Orphanet:721"} synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721] synonym: "BDPLT4" EXACT ABBREVIATION [DOID:0111044] @@ -139931,6 +140882,7 @@ synonym: "marked decrease or absence of alpha-granules and of platelet-specific synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721] synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] xref: DOID:0111044 {source="MONDO:equivalentTo"} +xref: GARD:2562 {source="Orphanet:721"} xref: ICD10CM:D69.1 {source="Orphanet:721/ntbt", source="Orphanet:721", source="DOID:0111044", source="Orphanet:721/inclusion"} xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} xref: NCIT:C84741 {source="MONDO:equivalentTo"} @@ -139961,7 +140913,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007688 name: Myhre syndrome def: "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." [Orphanet:2588] -subset: gard_rare {source="GARD:0002572"} +subset: gard_rare {source="GARD:2572"} subset: ordo_malformation_syndrome {source="Orphanet:2588"} synonym: "facial dysmorphism - intellectual deficit - short stature - hearing loss" RELATED [GARD:0002572] synonym: "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" EXACT [Orphanet:2588] @@ -139972,6 +140924,7 @@ synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" synonym: "MYHRE syndrome" RELATED [OMIM:139210] synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210] synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139210] +xref: GARD:2572 {source="Orphanet:2588"} xref: ICD10CM:Q87.8 {source="Orphanet:2588/attributed", source="Orphanet:2588/ntbt", source="Orphanet:2588"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537620 {source="MONDO:equivalentTo"} @@ -140006,7 +140959,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007690 name: aromatase excess syndrome def: "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." [Orphanet:178345] -subset: gard_rare {source="GARD:0012494"} +subset: gard_rare {source="GARD:12494"} subset: ordo_disease {source="Orphanet:178345"} synonym: "AEXS" EXACT ABBREVIATION [DOID:0090122, MONDO:Lexical, OMIM:139300, Orphanet:178345] synonym: "aromatase activity, increased" RELATED [OMIM:139300] @@ -140017,6 +140970,7 @@ synonym: "gynecomastia, hereditary" EXACT [MESH:C000591739] synonym: "hereditary prepubertal gynecomastia" EXACT [DOID:0090122, Orphanet:178345] synonym: "increased aromatase activity" EXACT [DOID:0090122] xref: DOID:0090122 {source="MONDO:equivalentTo"} +xref: GARD:12494 {source="Orphanet:178345"} xref: ICD10CM:E30.1 {source="Orphanet:178345/attributed", source="Orphanet:178345/ntbt", source="DOID:0090122", source="Orphanet:178345"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C000591739 {source="MONDO:equivalentTo"} @@ -140038,12 +140992,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12494/aromat id: MONDO:0007691 name: Guillain-Barre syndrome, familial def: "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." [https://orcid.org/0000-0002-0736-9199] +subset: gard_rare {source="GARD:18211"} subset: ordo_disease {source="Orphanet:2932"} synonym: "AIDP" EXACT ABBREVIATION [OMIM:139393] synonym: "GBS" RELATED ABBREVIATION [OMIM:139393] synonym: "Guillain-Barre syndrome, familial" EXACT [OMIM:139393] synonym: "neuropathy, inflammatory demyelinating" EXACT [OMIM:139393, OMIM:genemap2] synonym: "polyneuropathy, inflammatory demyelinating, acute" EXACT [OMIM:139393] +xref: GARD:18211 {source="OMIM:139393"} xref: ICD10CM:G61.8 {source="Orphanet:2932", source="Orphanet:2932/ntbt"} xref: MedDRA:10057645 {source="Orphanet:2932", source="Orphanet:2932/e"} xref: OMIM:139393 {source="DOID:12842", source="MONDO:equivalentTo"} @@ -140082,12 +141038,13 @@ is_obsolete: true id: MONDO:0007693 name: hypertrichosis cubiti-short stature syndrome def: "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." [Orphanet:2220] -subset: gard_rare +subset: gard_rare {source="GARD:143"} subset: ordo_malformation_syndrome {source="Orphanet:2220"} synonym: "hairy elbows" EXACT [OMIM:139600, Orphanet:2220] synonym: "hairy elbows syndrome" EXACT [Orphanet:2220] synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600] synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220] +xref: GARD:143 {source="Orphanet:2220"} xref: ICD10CM:Q84.2 {source="Orphanet:2220", source="Orphanet:2220/attributed", source="Orphanet:2220/ntbt"} xref: MedDRA:10068636 {source="Orphanet:2220", source="Orphanet:2220/e"} xref: MESH:C535618 {source="MONDO:equivalentTo"} @@ -140101,7 +141058,6 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0007694 name: hairy nose tip -subset: gard_rare {source="GARD:0008465"} synonym: "hairy nose tip" EXACT [OMIM:139630] synonym: "HNT" RELATED ABBREVIATION [GARD:0008465] xref: MESH:C535619 {source="MONDO:equivalentTo"} @@ -140113,7 +141069,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8465/hairy-n [Term] id: MONDO:0007695 name: hairy palms and soles -subset: gard_rare {source="GARD:0008461"} synonym: "circumscribed hairy Dysembryoplasia of palms" RELATED [OMIM:139650] synonym: "hairy cutaneous malformations of palms and soles" RELATED [GARD:0008461] synonym: "hairy palms and soles" EXACT [OMIM:139650] @@ -140127,11 +141082,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8461/hairy-p [Term] id: MONDO:0007696 name: Emery-Nelson syndrome +subset: gard_rare {source="GARD:2593"} subset: ordo_malformation_syndrome {source="Orphanet:1927"} synonym: "familial syndrome of short stature, deformities of the hands and feet, and unusual facies" RELATED [GARD:0002593] synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593] synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750] synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927] +xref: GARD:2593 {source="Orphanet:1927"} xref: ICD10CM:Q87.8 {source="Orphanet:1927/attributed", source="Orphanet:1927/ntbt", source="Orphanet:1927"} xref: MESH:C535626 {source="MONDO:equivalentTo"} xref: OMIM:139750 {source="Orphanet:1927/e", source="MONDO:equivalentTo", source="Orphanet:1927"} @@ -140154,6 +141111,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007698 name: hand-foot-genital syndrome def: "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." [Orphanet:2438] +subset: gard_rare {source="GARD:2594"} subset: ordo_malformation_syndrome {source="Orphanet:2438"} synonym: "hand foot genital syndrome" RELATED [GARD:0002594] synonym: "hand foot uterus syndrome" RELATED [GARD:0002594] @@ -140164,6 +141122,7 @@ synonym: "HFG syndrome" RELATED [GARD:0002594] synonym: "HFGS" EXACT ABBREVIATION [DOID:0060739, Orphanet:2438] synonym: "HFU syndrome" RELATED [GARD:0002594] xref: DOID:0060739 {source="MONDO:equivalentTo"} +xref: GARD:2594 {source="Orphanet:2438"} xref: ICD10CM:Q51.2 {source="Orphanet:2438", source="Orphanet:2438/attributed", source="Orphanet:2438/ntbt", source="DOID:0060739"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072361 {source="Orphanet:2438", source="Orphanet:2438/e"} @@ -140250,13 +141209,14 @@ property_value: confidence "0.6296296296296298" xsd:double id: MONDO:0007700 name: hawkinsinuria def: "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." [Orphanet:2118] -subset: gard_rare {source="GARD:0005668"} +subset: gard_rare {source="GARD:5668"} subset: ordo_disease {source="Orphanet:2118"} synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [Orphanet:2118] synonym: "4-HPPD deficiency" EXACT [Orphanet:2118] synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:2118] synonym: "hawkinsinuria" EXACT CLINGEN_PREFERRED [OMIM:140350] xref: DOID:0111362 {source="MONDO:equivalentTo"} +xref: GARD:5668 {source="Orphanet:2118"} xref: ICD10CM:E70.2 {source="Orphanet:2118", source="Orphanet:2118/attributed", source="Orphanet:2118/ntbt"} xref: MESH:C535845 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: OMIM:140350 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} @@ -140272,13 +141232,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5668/hawkins [Term] id: MONDO:0007701 name: progressive familial heart block type II -subset: gard_rare {source="GARD:0004879"} +subset: gard_rare {source="GARD:4879"} synonym: "heart block progressive familial type 2" RELATED [GARD:0004879] synonym: "PFHB2" EXACT ABBREVIATION [DOID:0111075, MONDO:Lexical, OMIM:140400] synonym: "PFHBII" RELATED ABBREVIATION [OMIM:140400] synonym: "progressive familial heart block type 2" RELATED [GARD:0004879] synonym: "progressive familial heart block, type II" RELATED [MONDO:Lexical, OMIM:140400] xref: DOID:0111075 {source="MONDO:equivalentTo"} +xref: GARD:4879 {source="OMIM:140400"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564202 {source="MONDO:equivalentTo"} xref: OMIM:140400 {source="MONDO:equivalentTo", source="DOID:0111075"} @@ -140292,6 +141253,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4879/progres id: MONDO:0007702 name: heart-hand syndrome type 3 def: "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." [Orphanet:1342] +subset: gard_rare {source="GARD:2614"} subset: ordo_malformation_syndrome {source="Orphanet:1342"} synonym: "atriodigital dysplasia type 3" EXACT [Orphanet:1342] synonym: "brachydactyly and intraventricular conduction defect" RELATED [GARD:0002614] @@ -140299,6 +141261,7 @@ synonym: "Cardiomelic syndrome type 3" EXACT [Orphanet:1342] synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342] synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342] synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614] +xref: GARD:2614 {source="Orphanet:1342"} xref: ICD10CM:Q87.2 {source="Orphanet:1342/attributed", source="Orphanet:1342/ntbt", source="Orphanet:1342"} xref: MESH:C535853 {source="MONDO:equivalentTo"} xref: OMIM:140450 {source="Orphanet:1342", source="MONDO:equivalentTo", source="Orphanet:1342/e"} @@ -140392,7 +141355,7 @@ intersection_of: disease_has_location UBERON:0002108 ! small intestine id: MONDO:0007708 name: Kasabach-Merritt syndrome def: "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma." [Orphanet:2330] -subset: gard_rare +subset: gard_rare {source="GARD:70"} subset: ordo_clinical_situation {source="Orphanet:2330"} synonym: "hemangioma thrombocytopenia syndrome" RELATED [GARD:0000070] synonym: "hemangioma-hemorrhage syndrome" EXACT [NCIT:C3821] @@ -140404,6 +141367,7 @@ synonym: "Kasabach-Merritt syndrome" EXACT [OMIM:141000] synonym: "KMP" RELATED ABBREVIATION [GARD:0000070] synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821] synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821] +xref: GARD:70 {source="Orphanet:2330"} xref: ICD10CM:D18.0 {source="Orphanet:2330", source="Orphanet:2330/ntbt"} xref: ICD9:287.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058423 {source="Orphanet:2330", source="Orphanet:2330/e"} @@ -140439,6 +141403,7 @@ id: MONDO:0007710 name: facial hemiatrophy def: "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." [Orphanet:1214] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:7338"} subset: ordo_disease {source="Orphanet:1214"} synonym: "hemifacial atrophy" EXACT [Orphanet:1214] synonym: "hemifacial atrophy, progressive" RELATED [MONDO:Lexical, OMIM:141300] @@ -140450,6 +141415,7 @@ synonym: "progressive hemifacial atrophy" EXACT [NCIT:C116916] synonym: "Romberg hemi-facial atrophy" RELATED [GARD:0007338] synonym: "Romberg syndrome" EXACT [Orphanet:1214] xref: DOID:1757 {source="MONDO:equivalentTo"} +xref: GARD:7338 {source="Orphanet:1214"} xref: ICD10CM:G51.8 {source="Orphanet:1214", source="Orphanet:1214/ntbt"} xref: MESH:D005150 {source="MONDO:equivalentTo", source="DOID:1757"} xref: NCIT:C116916 {source="MONDO:equivalentTo", source="DOID:1757"} @@ -140469,12 +141435,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007711 name: Bencze syndrome def: "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." [Orphanet:1241] -subset: gard_rare +subset: gard_rare {source="GARD:2633"} subset: ordo_malformation_syndrome {source="Orphanet:1241"} synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350] synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633] synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350] synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241] +xref: GARD:2633 {source="Orphanet:1241"} xref: ICD10CM:Q67.4 {source="Orphanet:1241", source="Orphanet:1241/attributed", source="Orphanet:1241/ntbt"} xref: MESH:C564199 {source="MONDO:equivalentTo"} xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="Orphanet:1241/e"} @@ -140489,6 +141456,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2633/hemifac id: MONDO:0007712 name: oculoauriculovertebral spectrum with radial defects def: "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." [Orphanet:2549] +subset: gard_rare {source="GARD:3653"} subset: ordo_malformation_syndrome {source="Orphanet:2549"} synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [OMIM:141400] synonym: "hemifacial microsomia with radial defects" RELATED [OMIM:141400] @@ -140498,6 +141466,7 @@ synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653] synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549] synonym: "Oavs with radial defect" RELATED [OMIM:141400] synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] +xref: GARD:3653 {source="Orphanet:2549"} xref: ICD10CM:Q75.8 {source="Orphanet:2549/attributed", source="Orphanet:2549/ntbt", source="Orphanet:2549"} xref: OMIM:141400 {source="Orphanet:2549/e", source="MONDO:equivalentTo", source="Orphanet:2549"} xref: Orphanet:2549 {source="MONDO:equivalentTo", source="OMIM:141400"} @@ -140514,11 +141483,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007713 name: clonic hemifacial spasm +subset: gard_rare {source="GARD:17137"} subset: ordo_disease {source="Orphanet:221083"} synonym: "facial hemispasm" EXACT [Orphanet:221083] synonym: "focal myoclonus of face" EXACT [Orphanet:221083] synonym: "hemifacial spasm" RELATED [Orphanet:221083] synonym: "hemifacial spasm, familial" RELATED [OMIM:141405] +xref: GARD:17137 {source="Orphanet:221083"} xref: ICD10CM:G51.3 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: MESH:C564198 {source="MONDO:equivalentTo"} xref: OMIM:141405 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} @@ -140548,6 +141519,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007716 name: alpha thalassemia-intellectual disability syndrome type 1 def: "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." [Orphanet:98791] +subset: gard_rare {source="GARD:16862"} subset: ordo_disease {source="Orphanet:98791"} synonym: "Alpha thalassemia-intellectual disability syndrome" EXACT [Orphanet:98791] synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [Orphanet:98791] @@ -140579,6 +141551,7 @@ synonym: "mental retardation with Haemoglobin H" RELATED OMO:0003005 [] synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750] xref: DECIPHER:65 {source="MONDO:equivalentTo"} xref: DOID:0110029 {source="MONDO:equivalentTo"} +xref: GARD:16862 {source="Orphanet:98791"} xref: ICD10CM:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="Orphanet:98791/attributed", source="Orphanet:98791/ntbt", source="Orphanet:98791"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563050 {source="MONDO:equivalentTo"} @@ -140697,6 +141670,7 @@ property_value: IAO:0000589 "heterochromia iridis (disease)" xsd:string id: MONDO:0007723 name: Hirschsprung disease, susceptibility to, 1 def: "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15076"} subset: predisposition synonym: "aganglionic megacolon" BROAD [OMIM:142623] synonym: "Hirschsprung disease" BROAD [OMIM:142623] @@ -140708,6 +141682,7 @@ synonym: "HSCR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142623] synonym: "megacolon, aganglionic" BROAD [OMIM:142623] synonym: "RET Hirschsprung disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to Hirschsprung disease 1" EXACT [OMIM:142623] +xref: GARD:15076 {source="OMIM:142623"} xref: OMIM:142623 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:142623"} xref: UMLS:C2931876 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:142623"} @@ -140743,8 +141718,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007725 name: hereditary progressive mucinous histiocytosis def: "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." [Orphanet:158025] +subset: gard_rare {source="GARD:16989"} subset: ordo_disease {source="Orphanet:158025"} synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630] +xref: GARD:16989 {source="Orphanet:158025"} xref: ICD10CM:D76.3 {source="Orphanet:158025", source="Orphanet:158025/ntbt"} xref: MESH:C564186 {source="MONDO:equivalentTo"} xref: OMIM:142630 {source="Orphanet:158025", source="MONDO:equivalentTo", source="Orphanet:158025/e"} @@ -140757,6 +141734,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0007726 name: hip dysplasia, Beukes type def: "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." [Orphanet:2114] +subset: gard_rare {source="GARD:2690"} subset: ordo_disease {source="Orphanet:2114"} synonym: "Beukes familial hip dysplasia" EXACT [OMIM:142669, Orphanet:2114] synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical, OMIM:142669] @@ -140768,6 +141746,7 @@ synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669] synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669] synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114] xref: DOID:0111367 {source="MONDO:equivalentTo"} +xref: GARD:2690 {source="Orphanet:2114"} xref: ICD10CM:Q65.8 {source="Orphanet:2114/attributed", source="Orphanet:2114/ntbt", source="Orphanet:2114"} xref: MESH:C564185 {source="MONDO:equivalentTo"} xref: OMIM:142669 {source="Orphanet:2114", source="MONDO:equivalentTo", source="Orphanet:2114/e"} @@ -140783,6 +141762,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007727 name: autosomal dominant familial periodic fever def: "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." [Orphanet:32960] +subset: gard_rare {source="GARD:8457"} subset: ordo_disease {source="Orphanet:32960"} synonym: "familial Hibernian fever" EXACT [DOID:0090018, OMIM:142680, Orphanet:32960] synonym: "FHF" RELATED ABBREVIATION [GARD:0008457] @@ -140801,6 +141781,7 @@ synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT synonym: "tumour necrosis factor receptor 1-associated periodic syndrome" EXACT OMO:0003005 [] synonym: "tumour necrosis factor receptor-associated periodic syndrome" RELATED OMO:0003005 [] xref: DOID:0090018 {source="MONDO:equivalentTo"} +xref: GARD:8457 {source="Orphanet:32960"} xref: ICD10CM:E85.0 {source="Orphanet:32960", source="Orphanet:32960/attributed", source="Orphanet:32960/ntbt", source="DOID:0090018"} xref: MESH:C536657 {source="MONDO:equivalentTo"} xref: NCIT:C119051 {source="MONDO:equivalentTo"} @@ -140873,6 +141854,7 @@ is_obsolete: true id: MONDO:0007732 name: Holt-Oram syndrome def: "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." [Orphanet:392] +subset: gard_rare {source="GARD:6666"} subset: ordo_malformation_syndrome {source="Orphanet:392"} synonym: "atrio digital syndrome" BROAD [GARD:0006666] synonym: "atrio-digital syndrome" BROAD [DOID:0060468] @@ -140889,6 +141871,7 @@ synonym: "HOS 1" RELATED [GARD:0006666] synonym: "Hos1" RELATED [OMIM:142900] synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666] xref: DOID:0060468 {source="MONDO:equivalentTo"} +xref: GARD:6666 {source="Orphanet:392"} xref: ICD10CM:Q87.2 {source="Orphanet:392/inclusion", source="DOID:0060468", source="Orphanet:392", source="Orphanet:392/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050469 {source="Orphanet:392", source="Orphanet:392/e"} @@ -140961,11 +141944,13 @@ property_value: confidence "2.097409750055836" xsd:double id: MONDO:0007735 name: congenital Horner syndrome def: "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." [Orphanet:91413] +subset: gard_rare {source="GARD:6670"} subset: ordo_disease {source="Orphanet:91413"} synonym: "congenital Claude-Bernard-Horner syndrome" EXACT [Orphanet:91413] synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous] synonym: "congenital Horner syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000] +xref: GARD:6670 {source="Orphanet:91413"} xref: HP:0006837 {source="MONDO:otherHierarchy"} xref: ICD10CM:G90.2 {source="Orphanet:91413/attributed", source="Orphanet:91413/ntbt", source="Orphanet:91413"} xref: MESH:C564178 {source="MONDO:equivalentTo"} @@ -140993,12 +141978,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007737 name: humeroradial synostosis def: "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." [Orphanet:3265] +subset: gard_rare {source="GARD:2748"} subset: ordo_morphological_anomaly {source="Orphanet:3265"} synonym: "humero-radial fusion" EXACT [DOID:0060467, Orphanet:3265] synonym: "humero-radial synostosis" RELATED [Orphanet:3265] synonym: "humeroradial synostosis" EXACT [MONDO:ambiguous] synonym: "humeroradial synostosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060467 {source="MONDO:equivalentTo"} +xref: GARD:2748 {source="Orphanet:3265"} xref: HP:0003041 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:3265", source="Orphanet:3265/attributed", source="Orphanet:3265/ntbt", source="DOID:0060467"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -141017,7 +142004,7 @@ property_value: IAO:0000589 "humeroradial synostosis (disease)" xsd:string id: MONDO:0007738 name: spondyloepiphyseal dysplasia with congenital joint dislocations def: "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." [Orphanet:263463] -subset: gard_rare +subset: gard_rare {source="GARD:13169"} subset: ordo_disease {source="Orphanet:263463"} synonym: "bifurcation of distal humerus with oligoectro-syndactyly" RELATED [GARD:0002533, MESH:C537283] synonym: "chondrodysplasia with congenital joint dislocations, CHST3 type" EXACT [Orphanet:263463] @@ -141036,6 +142023,7 @@ synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" EXACT [Orphanet:263463] synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095] xref: DOID:0050813 {source="MONDO:equivalentTo"} +xref: GARD:13169 {source="Orphanet:263463"} xref: ICD10CM:Q74.8 {source="Orphanet:263463/attributed", source="Orphanet:263463/ntbt", source="Orphanet:263463"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537283 {source="MONDO:equivalentTo"} @@ -141059,6 +142047,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2533/gollop- id: MONDO:0007739 name: Huntington disease def: "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." [Orphanet:399] +subset: gard_rare {source="GARD:6677"} subset: ordo_disease {source="Orphanet:399"} synonym: "HD" EXACT ABBREVIATION [DOID:12858, MONDO:Lexical, OMIM:143100] synonym: "Huntington chorea" EXACT [OMIM:143100, Orphanet:399] @@ -141066,6 +142055,7 @@ synonym: "Huntington disease" EXACT [DOID:12858, MONDO:Lexical, OMIM:143100] synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4] synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:12858 {source="MONDO:equivalentTo"} +xref: GARD:6677 {source="Orphanet:399"} xref: ICD10CM:G10 {source="Orphanet:399/specific", source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -141091,6 +142081,7 @@ property_value: confidence "3.75" xsd:double id: MONDO:0007740 name: Wagner disease def: "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." [Orphanet:898] +subset: gard_rare {source="GARD:7871"} subset: ordo_disease {source="Orphanet:898"} synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [Orphanet:898] synonym: "erosive vitreoretinopathy" RELATED [OMIM:143200] @@ -141107,6 +142098,7 @@ synonym: "Wagner vitreoretinal Degeneration" RELATED [OMIM:143200] synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200] synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871] synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200] +xref: GARD:7871 {source="Orphanet:898"} xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"} xref: MedDRA:10063383 {source="Orphanet:898", source="Orphanet:898/e"} xref: MESH:C536075 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} @@ -141167,6 +142159,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007744 name: cholesterol-ester transfer protein deficiency +subset: gard_rare {source="GARD:16724", source="GARD:18075"} subset: ordo_disease {source="Orphanet:79506"} synonym: "CEPT deficiency" EXACT [Orphanet:79506] synonym: "CETP deficiency" RELATED [OMIM:143470] @@ -141181,6 +142174,8 @@ synonym: "hyperalphalipoproteinemia 1" EXACT [MONDO:Lexical, OMIM:143470] synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470] xref: DOID:0111368 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:0111369 {source="MONDO:equivalentTo"} +xref: GARD:16724 {source="Orphanet:79506"} +xref: GARD:18075 {source="OMIM:143470"} xref: ICD10CM:E78.4 {source="Orphanet:79506/attributed", source="Orphanet:79506/ntbt", source="Orphanet:79506"} xref: OMIM:143470 {source="Orphanet:79506", source="MONDO:equivalentTo", source="Orphanet:79506/e"} xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"} @@ -141244,10 +142239,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007747 name: isolated hyperchlorhidrosis +subset: gard_rare {source="GARD:17984"} subset: ordo_disease synonym: "hyperchlorhidrosis, isolated" EXACT [OMIM:143860] synonym: "isolated hyperchlorhidrosis" EXACT CLINGEN_PREFERRED [] xref: DOID:0111371 {source="MONDO:equivalentTo"} +xref: GARD:17984 {source="Orphanet:542657"} xref: ICD9:276.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:143860 {source="MONDO:equivalentTo", source="Orphanet:542657"} xref: Orphanet:542657 {source="MONDO:equivalentTo"} @@ -141261,11 +142258,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007748 name: hypercalciuria, absorptive, 2 +subset: gard_rare {source="GARD:18583"} synonym: "HCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143870] synonym: "hypercalciuria, absorptive, 2" EXACT [MONDO:Lexical, OMIM:143870] synonym: "hypercalciuria, absorptive, susceptibility to" EXACT [OMIM:143870, OMIM:genemap2] synonym: "hypercalciuria, absorptive, type 2" EXACT [MONDORULE:1, OMIM:143870] synonym: "hypercalciuria, familial idiopathic" RELATED [OMIM:143870] +xref: GARD:18583 {source="OMIM:143870"} xref: ICD9:V18.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562790 {source="MONDO:equivalentTo"} xref: OMIM:143870 {source="MONDO:equivalentTo"} @@ -141318,11 +142317,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007751 name: hypercholesterolemia, autosomal dominant, type B +subset: gard_rare {source="GARD:8588"} synonym: "apolipoprotein B-100, familial defective" RELATED [OMIM:144010] synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [OMIM:144010] synonym: "hypercholesterolemia, autosomal dominant, type B" EXACT CLINGEN_PREFERRED [OMIM:144010] synonym: "hypercholesterolemia, familial, 2" EXACT [OMIM:144010, OMIM:genemap2] synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [OMIM:144010] +xref: GARD:8588 {source="OMIM:144010"} xref: OMIM:144010 {source="MONDO:equivalentTo"} xref: Orphanet:406 {source="OMIM:144010"} xref: SCTID:238081000 {source="MONDO:equivalentTo"} @@ -141398,6 +142399,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007756 name: hyperkeratosis lenticularis perstans +subset: gard_rare {source="GARD:2824"} subset: ordo_disease {source="Orphanet:409"} synonym: "Flegel disease" EXACT [OMIM:144150, Orphanet:409] synonym: "Flegel's disease" RELATED [GARD:0002824] @@ -141405,6 +142407,7 @@ synonym: "HLP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144150] synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150] synonym: "hyperkeratosis lenticularis perstans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824] +xref: GARD:2824 {source="Orphanet:409"} xref: HP:0007570 {source="MONDO:otherHierarchy"} xref: MedDRA:10071311 {source="Orphanet:409", source="Orphanet:409/e"} xref: MESH:C538377 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} @@ -141421,8 +142424,10 @@ property_value: IAO:0000589 "hyperkeratosis lenticularis perstans (disease)" xsd id: MONDO:0007757 name: hyperkeratosis-hyperpigmentation syndrome def: "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." [Orphanet:1336] +subset: gard_rare {source="GARD:16563"} subset: ordo_disease {source="Orphanet:1336"} synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190] +xref: GARD:16563 {source="Orphanet:1336"} xref: ICD10CM:Q82.8 {source="Orphanet:1336", source="Orphanet:1336/attributed", source="Orphanet:1336/ntbt"} xref: MESH:C564172 {source="MONDO:equivalentTo"} xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="Orphanet:1336/e"} @@ -141436,7 +142441,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0007758 name: epidermolytic palmoplantar keratoderma def: "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." [NCIT:C84693] -subset: gard_rare +subset: gard_rare {source="GARD:2826"} subset: ordo_disease {source="Orphanet:2199"} synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [Orphanet:2199] synonym: "diffuse erythrodermic palmoplantar keratoderma, Voerner type" EXACT [Orphanet:2199] @@ -141458,6 +142463,7 @@ synonym: "palmoplantar keratoderma, Vorner type" RELATED [OMIM:144200] synonym: "Ppke" RELATED [OMIM:144200] synonym: "tylosis" RELATED [OMIM:144200] xref: DOID:0080223 {source="MONDO:equivalentTo"} +xref: GARD:2826 {source="Orphanet:2199"} xref: ICD10CM:Q82.8 {source="Orphanet:2199", source="Orphanet:2199/attributed", source="Orphanet:2199/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C84693 {source="MONDO:equivalentTo"} @@ -141481,10 +142487,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2826/epiderm id: MONDO:0007759 name: hyperlipidemia, familial combined, LPL related comment: Editor note: the OMIM:144250 entry refers to the LPL-caused form +subset: gard_rare {source="GARD:15077"} synonym: "combined hyperlipidemia, familial" EXACT [OMIM:144250, OMIM:genemap2] synonym: "familial combined hyperlipidemia" RELATED [OMIM:144250] synonym: "FCHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144250] synonym: "hyperlipidemia, familial combined" RELATED [MONDO:Lexical, OMIM:144250] +xref: GARD:15077 {source="OMIM:144250"} xref: OMIM:144250 {source="MONDO:equivalentTo"} xref: UMLS:C0020474 {source="OMIM:144250", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001336 {source="DC-OMIM:144250"} ! familial hyperlipidemia @@ -141505,7 +142513,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007761 name: obsolete hyperlipoproteinemia type IV def: "OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." [NCIT:P378] -subset: gard_rare {source="GARD:0006418"} synonym: "carbohydrate inducible hyperlipemia" RELATED [GARD:0006418] synonym: "carbohydrate-inducible hyperlipemia" RELATED [OMIM:144600] synonym: "endogenous hyperlipidaemia" EXACT [DOID:1172] @@ -141543,7 +142550,7 @@ is_obsolete: true id: MONDO:0007762 name: hyperlipoproteinemia type V def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." [MESH:D006954] -subset: gard_rare {source="GARD:0006704"} +subset: gard_rare {source="GARD:6704"} subset: ordo_disease {source="Orphanet:70470"} subset: ordo_subtype_of_a_disorder {source="Orphanet:530849"} synonym: "familial APOA5 deficiency" EXACT [Orphanet:530849] @@ -141570,6 +142577,7 @@ synonym: "mixed hyperlipemia" RELATED [GARD:0006704] synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704] xref: DOID:0111421 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:1171 {source="MONDO:equivalentTo"} +xref: GARD:6704 {source="Orphanet:530849"} xref: ICD10CM:E78.3 {source="Orphanet:70470", source="Orphanet:70470/ntbt", source="MONDO:mondoSubClassOfSource", source="Orphanet:530849", source="Orphanet:70470/inclusion"} xref: MedDRA:10060755 {source="Orphanet:70470", source="Orphanet:70470/e"} xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171"} @@ -141620,6 +142628,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007764 name: autosomal dominant osteosclerosis, Worth type def: "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." [https://orcid.org/0000-0001-5208-3432, Orphanet:2790] +subset: gard_rare {source="GARD:390"} subset: ordo_malformation_syndrome {source="Orphanet:2790"} synonym: "autosomal dominant endosteal hyperostosis" EXACT [DOID:0080037] synonym: "autosomal dominant osteosclerosis" EXACT [DOID:0080037] @@ -141639,6 +142648,7 @@ synonym: "VBCH2" RELATED ABBREVIATION [OMIM:607636] synonym: "Worth syndrome" EXACT [DOID:0080037, Orphanet:2790] synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:0080037 {source="MONDO:equivalentTo"} +xref: GARD:390 {source="Orphanet:2790"} xref: ICD10CM:Q78.2 {source="Orphanet:2790/attributed", source="Orphanet:2790/ntbt", source="Orphanet:2790"} xref: OMIM:144750 {source="Orphanet:2790/e", source="MONDO:equivalentTo", source="Orphanet:2790"} xref: OMIM:607636 {source="MONDO:equivalentObsolete", source="DOID:0080037"} @@ -141663,11 +142673,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007765 name: hyperostosis cranialis interna +subset: gard_rare {source="GARD:17753"} subset: ordo_disease {source="Orphanet:443098"} synonym: "HCIN" RELATED ABBREVIATION [OMIM:144755] synonym: "hyperostosis cranalis interna" EXACT [OMIM:144755, OMIM:genemap2] synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755] synonym: "hyperostosis cranialis interna (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:17753 {source="Orphanet:443098"} xref: HP:0005890 {source="MONDO:otherHierarchy"} xref: ICD10CM:M85.2 {source="Orphanet:443098/attributed", source="Orphanet:443098/ntbt", source="Orphanet:443098"} xref: MESH:C564168 {source="MONDO:equivalentTo"} @@ -141686,12 +142698,13 @@ property_value: IAO:0000589 "hyperostosis cranialis interna (disease)" xsd:strin id: MONDO:0007766 name: Morgagni-Stewart-Morel syndrome def: "Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." [Orphanet:77296] -subset: gard_rare {source="GARD:0008593"} +subset: gard_rare {source="GARD:8593"} subset: ordo_malformation_syndrome {source="Orphanet:77296"} synonym: "hyperostosis frontalis interna" EXACT [OMIM:144800, Orphanet:77296] synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impairment" RELATED [GARD:0008593] synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800] synonym: "MSM syndrome" RELATED [GARD:0008593] +xref: GARD:8593 {source="Orphanet:77296"} xref: ICD10CM:M85.2 {source="Orphanet:77296", source="Orphanet:77296/ntbt", source="Orphanet:77296/index"} xref: MESH:D006957 {source="MONDO:equivalentTo"} xref: NCIT:C84772 {source="MONDO:equivalentTo"} @@ -141707,12 +142720,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8593/morgagn [Term] id: MONDO:0007767 name: hyperparathyroidism 1 +subset: gard_rare {source="GARD:18253"} synonym: "HRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145000] synonym: "hyperparathyroidism 1" EXACT [MONDO:Lexical, OMIM:145000] synonym: "hyperparathyroidism type 1" EXACT [MONDORULE:1, OMIM:145000] synonym: "hyperparathyroidism, familial isolated primary" RELATED [OMIM:145000] synonym: "hyperparathyroidism, familial primary" EXACT [OMIM:145000, OMIM:genemap2] synonym: "parathyroid adenoma, familial" RELATED [OMIM:145000] +xref: GARD:18253 {source="OMIM:145000"} xref: OMIM:145000 {source="MONDO:equivalentTo"} xref: Orphanet:99877 {source="MONDO:relatedTo", source="OMIM:145000"} xref: Orphanet:99879 {source="OMIM:145000"} @@ -141729,7 +142744,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007768 name: hyperparathyroidism 2 with jaw tumors def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:C48287] -subset: gard_rare {source="GARD:0010829"} +subset: gard_rare {source="GARD:10829"} subset: ordo_disease {source="Orphanet:99880"} synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829] @@ -141747,6 +142762,7 @@ synonym: "hyperparathyroidism-jaw tumour syndrome" EXACT OMO:0003005 [] synonym: "hyperparathyroidism-jaw tumour syndrome, hereditary" RELATED OMO:0003005 [] synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2] synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001] +xref: GARD:10829 {source="Orphanet:99880"} xref: ICD10CM:E21.0 {source="Orphanet:99880/attributed", source="Orphanet:99880/ntbt", source="Orphanet:99880"} xref: NCIT:C48287 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:145001 {source="Orphanet:99880/e", source="MONDO:equivalentTo", source="Orphanet:99880"} @@ -141791,6 +142807,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007771 name: hyperpigmentation with or without hypopigmentation, familial progressive +subset: gard_rare {source="GARD:18073"} synonym: "FPHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145250] synonym: "hyperpigmentation with or without hypopigmentation" EXACT [OMIM:145250, OMIM:genemap2] synonym: "hyperpigmentation with or without hypopigmentation, familial progressive" EXACT [MONDO:Lexical, OMIM:145250] @@ -141800,6 +142817,7 @@ synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT synonym: "melanosis universalis hereditaria" RELATED [OMIM:145250] synonym: "melanosis, universal" EXACT [OMIM:145250] xref: DOID:0111373 {source="MONDO:equivalentTo"} +xref: GARD:18073 {source="OMIM:145250"} xref: OMIM:145250 {source="MONDO:equivalentTo"} xref: Orphanet:280628 {source="OMIM:145250"} xref: Orphanet:79146 {source="OMIM:145250"} @@ -141813,12 +142831,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007772 name: pseudohypoaldosteronism type 2A +subset: gard_rare {source="GARD:16775"} subset: ordo_etiological_subtype {source="Orphanet:88938"} synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [OMIM:145260] synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260] synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260] synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938] synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260] +xref: GARD:16775 {source="Orphanet:88938"} xref: ICD10CM:I15.1 {source="Orphanet:88938/attributed", source="Orphanet:88938/ntbt", source="Orphanet:88938"} xref: OMIM:145260 {source="Orphanet:88938/e", source="MONDO:equivalentTo", source="Orphanet:88938"} xref: Orphanet:757 {source="OMIM:145260"} @@ -141856,7 +142876,6 @@ property_value: IAO:0000589 "hyperreflexia (disease)" xsd:string [Term] id: MONDO:0007775 name: hypersecretion of adrenal androgens, familial -subset: gard_rare {source="GARD:0009593"} synonym: "familial hypersecretion of adrenal androgens" RELATED [GARD:0009593] synonym: "hypersecretion of adrenal androgens, familial" EXACT [OMIM:145295] xref: MESH:C536845 {source="MONDO:equivalentTo"} @@ -141869,8 +142888,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9593/familia id: MONDO:0007776 name: hypersensitivity pneumonitis, familial def: "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:8240"} synonym: "hereditary hypersensitivity pneumonitis" EXACT [MONDO:patterns/hereditary] synonym: "hypersensitivity pneumonitis, familial" EXACT [OMIM:145300] +xref: GARD:8240 {source="OMIM:145300"} xref: MESH:C536846 {source="MONDO:equivalentTo"} xref: OMIM:145300 {source="MONDO:equivalentTo"} xref: UMLS:C1840386 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145300"} @@ -141998,7 +143019,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007783 name: malignant hyperthermia, susceptibility to, 1 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:3363"} subset: predisposition synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363, OMIM:145600] synonym: "hyperpyrexia, malignant;MH KING syndrome, included" RELATED [MESH:C535694] @@ -142020,6 +143041,7 @@ synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600] xref: DOID:0080990 {source="MONDO:equivalentTo"} xref: EFO:0009071 {source="MONDO:equivalentTo"} +xref: GARD:3363 {source="OMIM:145600"} xref: MESH:C535694 {source="MONDO:equivalentTo"} xref: OMIM:145600 {source="MONDO:equivalentTo", source="GARD:0003363"} xref: Orphanet:423 {source="OMIM:145600", source="GARD:0003363"} @@ -142086,6 +143108,7 @@ replaced_by: MONDO:0016381 id: MONDO:0007787 name: Ambras type hypertrichosis universalis congenita def: "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." [Orphanet:1023] +subset: gard_rare {source="GARD:8206"} subset: ordo_clinical_subtype {source="Orphanet:1023"} synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023] synonym: "congenital generalised hypertrichosis, Ambras type" RELATED OMO:0003005 [] @@ -142097,6 +143120,7 @@ synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexi synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701] xref: DOID:0111060 {source="MONDO:equivalentTo"} +xref: GARD:8206 {source="Orphanet:1023"} xref: ICD10CM:Q84.2 {source="Orphanet:1023/attributed", source="Orphanet:1023/ntbt", source="Orphanet:1023", source="DOID:0111060"} xref: MESH:C536605 {source="Orphanet:1023", source="DOID:0111060", source="Orphanet:1023/e"} xref: OMIM:145701 {source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo", source="Orphanet:1023/e"} @@ -142132,6 +143156,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007790 name: Charcot-Marie-Tooth disease type 3 comment: Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit +subset: gard_rare {source="GARD:9204"} subset: ordo_disease {source="Orphanet:64748"} synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748] synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087] @@ -142149,6 +143174,7 @@ synonym: "HMSN3" EXACT ABBREVIATION [NCIT:C133087] synonym: "hypertrophic neuropathy of Dejerine-Sottas" EXACT [NCIT:C133087, OMIM:145900] synonym: "hypertrophic neuropathy of infancy" RELATED [GARD:0009204] xref: DOID:0050540 {source="MONDO:equivalentTo"} +xref: GARD:9204 {source="Orphanet:64748"} xref: ICD10CM:G60.0 {source="Orphanet:64748", source="Orphanet:64748/attributed", source="Orphanet:64748/ntbt"} xref: MESH:C538392 {source="Orphanet:64748", source="Orphanet:64748/e"} xref: NCIT:C133087 {source="MONDO:equivalentTo"} @@ -142166,6 +143192,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007791 name: familial hypocalciuric hypercalcemia 1 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2796"} subset: ordo_etiological_subtype {source="Orphanet:93372"} synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700, OMIM:145980] @@ -142185,6 +143212,7 @@ synonym: "hypocalciuric hypercalcemia, acquired" RELATED [OMIM:145980] synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, OMIM:145980] synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980] xref: DOID:0060700 {source="MONDO:equivalentTo"} +xref: GARD:2796 {source="Orphanet:93372"} xref: ICD10CM:E83.5 {source="Orphanet:93372", source="Orphanet:93372/attributed", source="Orphanet:93372/ntbt", source="DOID:0060700"} xref: MedDRA:10068704 {source="Orphanet:93372", source="Orphanet:93372/e"} xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e"} @@ -142207,6 +143235,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007792 name: familial hypocalciuric hypercalcemia 2 def: "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0060701, PMID:23802516] +subset: gard_rare {source="GARD:9758"} subset: ordo_etiological_subtype {source="Orphanet:101049"} synonym: "familial benign hypercalcemia, type 2" RELATED [OMIM:145981] synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1] @@ -142220,6 +143249,7 @@ synonym: "hypocalciuric hypercalcemia type II" EXACT [DOID:0060701] synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, OMIM:145981] synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981] xref: DOID:0060701 {source="MONDO:equivalentTo"} +xref: GARD:9758 {source="Orphanet:101049"} xref: ICD10CM:E83.5 {source="Orphanet:101049/attributed", source="Orphanet:101049/ntbt", source="Orphanet:101049", source="DOID:0060701"} xref: MESH:C537146 {source="Orphanet:101049", source="MONDO:equivalentTo", source="Orphanet:101049/e"} xref: OMIM:145981 {source="Orphanet:101049", source="MONDO:equivalentTo", source="DOID:0060701", source="Orphanet:101049/e"} @@ -142235,11 +143265,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007793 name: hypochondroplasia def: "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." [Orphanet:429] -subset: gard_rare {source="GARD:0006724"} +subset: gard_rare {source="GARD:6724"} subset: ordo_disease {source="Orphanet:429"} synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146000] synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000] xref: DOID:0080041 {source="MONDO:equivalentTo"} +xref: GARD:6724 {source="Orphanet:429"} xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020967 {source="Orphanet:429", source="Orphanet:429/e"} @@ -142261,12 +143292,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6724/hypocho id: MONDO:0007794 name: hypogonadotropic hypogonadism 7 with or without anosmia def: "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." [DOID:0090078, PMID:17235395, PMID:9371856] +subset: gard_rare {source="GARD:2897"} synonym: "HH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146110] synonym: "hypogonadism, isolated hypogonadotropic" RELATED [OMIM:146110] synonym: "hypogonadotropic hypogonadism 7 with or without anosmia" EXACT [MONDO:Lexical, OMIM:146110] synonym: "hypogonadotropic hypogonadism 7 without anosmia" EXACT [OMIM:146110, OMIM:genemap2] synonym: "idiopathic hypogonadotropic hypogonadism" RELATED [OMIM:146110] xref: DOID:0090078 {source="MONDO:equivalentTo"} +xref: GARD:2897 {source="OMIM:146110"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090078"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:146110 {source="DOID:0090078", source="MONDO:equivalentTo"} @@ -142282,6 +143315,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007795 name: mullerian duct anomalies-limb anomalies syndrome def: "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." [Orphanet:2491] +subset: gard_rare {source="GARD:2908"} subset: ordo_malformation_syndrome {source="Orphanet:2491"} synonym: "hypomelia mullerian duct anomalies" RELATED [GARD:0002908] synonym: "hypomelia with mullerian duct anomalies" RELATED [OMIM:146160] @@ -142289,6 +143323,7 @@ synonym: "limb uterus syndrome" RELATED [GARD:0002908] synonym: "limb-uterus syndrome" RELATED [OMIM:146160] synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491] synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908] +xref: GARD:2908 {source="Orphanet:2491"} xref: ICD10CM:Q87.8 {source="Orphanet:2491/attributed", source="Orphanet:2491/ntbt", source="Orphanet:2491"} xref: MESH:C537155 {source="MONDO:equivalentTo"} xref: OMIM:146160 {source="Orphanet:2491/e", source="MONDO:equivalentTo", source="Orphanet:2491"} @@ -142305,7 +143340,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007796 name: hypoparathyroidism, familial isolated 1 -subset: gard_rare synonym: "FIH" BROAD ABBREVIATION [OMIM:146200] synonym: "FIH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146200] synonym: "hypoparathyroidism familial isolated" RELATED [GARD:0002910] @@ -142329,6 +143363,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007797 name: hypoparathyroidism-deafness-renal disease syndrome def: "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." [Orphanet:2237] +subset: gard_rare {source="GARD:2911"} subset: ordo_malformation_syndrome {source="Orphanet:2237"} synonym: "Barakat syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237] synonym: "HDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146255] @@ -142340,6 +143375,7 @@ synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndro synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT CLINGEN_PREFERRED [] synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255] xref: DOID:0060878 {source="MONDO:equivalentTo"} +xref: GARD:2911 {source="Orphanet:2237"} xref: ICD10CM:Q87.8 {source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/attributed", source="Orphanet:2237/ntbt"} xref: MESH:C537907 {source="MONDO:equivalentTo"} xref: NCIT:C130983 {source="MONDO:equivalentTo"} @@ -142357,6 +143393,7 @@ property_value: confidence "24.000000000000025" xsd:double id: MONDO:0007798 name: obsolete adult hypophosphatasia def: "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." [Orphanet:247676] +subset: gard_rare {source="GARD:17193"} subset: ordo_clinical_subtype {source="Orphanet:247676"} synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676] synonym: "adult Rathburn disease" EXACT [Orphanet:247676] @@ -142367,6 +143404,7 @@ synonym: "mild hypophosphatasia" RELATED [DOID:0110913] synonym: "obsolete adult hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "odontohypophosphatasia" RELATED [OMIM:146300] xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"} +xref: GARD:17193 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"} xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"} xref: Orphanet:247676 {source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="DOID:0110913"} @@ -142399,6 +143437,7 @@ id: MONDO:0007800 name: chromosome 18p deletion syndrome def: "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." [Orphanet:1598] subset: disease_grouping +subset: gard_rare {source="GARD:20818", source="GARD:8631"} subset: ordo_disease {source="Orphanet:1598"} synonym: "18p syndrome" EXACT [DOID:0060406, NCIT:C84521, OMIM:146390, Orphanet:1598] synonym: "18p-" EXACT [GARD:0008631] @@ -142414,6 +143453,8 @@ synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDOR synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974] synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974] xref: DOID:0060406 {source="MONDO:equivalentTo"} +xref: GARD:20818 {source="Orphanet:261974"} +xref: GARD:8631 {source="Orphanet:1598"} xref: ICD10CM:Q93.5 {source="Orphanet:1598/attributed", source="Orphanet:1598/ntbt", source="Orphanet:1598", source="Orphanet:261974", source="Orphanet:261974/attributed", source="Orphanet:261974/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538309 {source="MONDO:equivalentTo", source="DOID:0060406"} @@ -142448,9 +143489,11 @@ consider: MONDO:0007436 [Term] id: MONDO:0007802 name: hypospadias 3, autosomal +subset: gard_rare {source="GARD:18184"} synonym: "hypospadias 3, autosomal" EXACT [MONDO:Lexical, OMIM:146450] synonym: "hypospadias 3, autosomal, multifactorial" EXACT [OMIM:146450, OMIM:genemap2] synonym: "HYSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146450] +xref: GARD:18184 {source="OMIM:146450"} xref: MESH:C567191 {source="MONDO:equivalentTo"} xref: OMIM:146450 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:146450"} @@ -142463,6 +143506,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007803 name: multiple system atrophy def: "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." [Orphanet:102] +subset: gard_rare {source="GARD:7079"} subset: ordo_disease {source="Orphanet:102"} synonym: "autonomic failure, Pure" RELATED [OMIM:146500] synonym: "hypotension, orthostatic" RELATED [OMIM:146500] @@ -142473,6 +143517,7 @@ synonym: "Shy-dragger syndrome (formerly)" RELATED [GARD:0007079] synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500] xref: DOID:4752 {source="MONDO:equivalentTo"} xref: EFO:1001050 {source="MONDO:equivalentTo"} +xref: GARD:7079 {source="Orphanet:102"} xref: ICD10CM:G90.3 {source="Orphanet:102/e", source="Orphanet:102"} xref: MedDRA:10064060 {source="Orphanet:102/e", source="Orphanet:102"} xref: MESH:D012791 {source="DOID:4752"} @@ -142498,7 +143543,7 @@ property_value: confidence "0.21851851851851856" xsd:double id: MONDO:0007804 name: Pallister-Hall syndrome def: "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." [Orphanet:672] -subset: gard_rare {source="GARD:0007305"} +subset: gard_rare {source="GARD:7305"} subset: ordo_malformation_syndrome {source="Orphanet:672"} synonym: "ano-cerebro-digital syndrome" EXACT [NCIT:C84987] synonym: "hypothalamic hamartoblastoma syndrome" EXACT [Orphanet:672] @@ -142507,6 +143552,7 @@ synonym: "Pallister Hall syndrome" EXACT [GARD:0007305] synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510] synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510] xref: DOID:9248 {source="MONDO:equivalentTo"} +xref: GARD:7305 {source="Orphanet:672"} xref: ICD10CM:D33.0 {source="Orphanet:672/attributed", source="Orphanet:672/ntbt", source="Orphanet:672"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D054975 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} @@ -142529,6 +143575,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7305/pallist id: MONDO:0007805 name: hypotrichosis 2 def: "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18093"} synonym: "CDSN hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Htss" RELATED [OMIM:146520] synonym: "Htss1" RELATED EXCLUDE [DOID:0110699] @@ -142541,6 +143588,7 @@ synonym: "HYPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146520] synonym: "hypt2" EXACT [DOID:0110699] synonym: "Spanish type hypotrichosis" EXACT [DOID:0110699] xref: DOID:0110699 {source="MONDO:equivalentTo"} +xref: GARD:18093 {source="OMIM:146520"} xref: MESH:C564143 {source="MONDO:equivalentTo"} xref: OMIM:146520 {source="DOID:0110699", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="OMIM:146520"} @@ -142573,6 +143621,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007808 name: ichthyosis hystrix of Curth-Macklin def: "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." [Orphanet:79503] +subset: gard_rare {source="GARD:2954"} subset: ordo_disease {source="Orphanet:79503"} synonym: "Curth-Macklin type ichthyosis hystrix" RELATED [GARD:0002954] synonym: "ichthyosis histrix, curth-macklin type" EXACT [OMIM:146590, OMIM:genemap2] @@ -142580,6 +143629,7 @@ synonym: "ichthyosis hystrix, Curth Macklin type" RELATED [GARD:0002954] synonym: "ichthyosis HYSTRIX, Curth-Macklin type" RELATED [MONDO:Lexical, OMIM:146590] synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [OMIM:146590, Orphanet:79503] synonym: "IHCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146590] +xref: GARD:2954 {source="Orphanet:79503"} xref: ICD10CM:Q80.8 {source="Orphanet:79503/attributed", source="Orphanet:79503/ntbt", source="Orphanet:79503"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"} @@ -142598,7 +143648,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007809 name: ichthyosis histrix, Lambert type -subset: gard_rare {source="GARD:0009497"} subset: ordo_disease {source="Orphanet:79504"} synonym: "ichthyosis hystrix gravior" EXACT [OMIM:146600] synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504] @@ -142622,7 +143671,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9497/ichthyo id: MONDO:0007810 name: autosomal dominant ichthyosis vulgaris def: "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." [https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris] -subset: gard_rare synonym: "autosomal dominant ichthyosis vulgaris" EXACT CLINGEN_PREFERRED [] synonym: "dominant congenital ichthyosiform erythroderma" EXACT [DOID:1702] synonym: "dominant ichthyosis vulgaris" RELATED [GARD:0001897] @@ -142675,7 +143723,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007812 name: ichthyosis, lamellar, autosomal dominant -subset: gard_rare {source="GARD:0009735"} synonym: "ichthyosis lamellar, autosomal dominant" RELATED [GARD:0009735] synonym: "ichthyosis, lamellar, autosomal dominant" EXACT [OMIM:146750] synonym: "lamellar ichthyosis, autosomal dominant" RELATED [OMIM:146750] @@ -142692,7 +143739,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9735/ichthyo id: MONDO:0007813 name: superficial epidermolytic ichthyosis def: "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." [Orphanet:455] -subset: gard_rare {source="GARD:0002966"} +subset: gard_rare {source="GARD:2966"} subset: ordo_disease {source="Orphanet:455"} synonym: "bullous type ichthyosis" EXACT [DOID:0060877] synonym: "bullous type of ichthyosis" RELATED [GARD:0002966] @@ -142703,6 +143750,7 @@ synonym: "ichthyosis, bullous type" RELATED [OMIM:146800] synonym: "SEI" EXACT ABBREVIATION [Orphanet:455, PMID:20643494] synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:20643494] xref: DOID:0060877 {source="MONDO:equivalentTo"} +xref: GARD:2966 {source="Orphanet:455"} xref: ICD10CM:Q80.8 {source="Orphanet:455", source="Orphanet:455/attributed", source="Orphanet:455/ntbt", source="DOID:0060877"} xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: NCIT:C84777 {source="MONDO:equivalentTo"} @@ -142721,8 +143769,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2966/ichthyo [Term] id: MONDO:0007814 name: immune deficiency, familial variable -subset: gard_rare {source="GARD:0002984"} +subset: gard_rare {source="GARD:2984"} synonym: "immune deficiency, familial variable" EXACT [OMIM:146830] +xref: GARD:2984 {source="OMIM:146830"} xref: MESH:C564136 {source="MONDO:equivalentTo"} xref: OMIM:146830 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:146830"} @@ -142787,7 +143836,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007818 name: hyper-IgE recurrent infection syndrome 1, autosomal dominant def: "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." [NCIT:C126342] -subset: gard_rare +subset: gard_rare {source="GARD:6800"} subset: ordo_disease {source="Orphanet:2314"} synonym: "AD hyperimmunoglobulin E syndrome" EXACT [GARD:0006800] synonym: "AD-HIES" EXACT [GARD:0006800, Orphanet:2314] @@ -142813,6 +143862,7 @@ synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO: synonym: "STAT3 deficiency" EXACT [Orphanet:2314] xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: EFO:0003775 {source="MONDO:equivalentTo"} +xref: GARD:6800 {source="Orphanet:2314"} xref: ICD10CM:D82.4 {source="Orphanet:2314", source="Orphanet:2314/attributed", source="Orphanet:2314/ntbt"} xref: MESH:C564135 {source="MONDO:equivalentTo"} xref: MESH:C567925 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="https://github.com/monarch-initiative/mondo/issues/2210"} @@ -142844,6 +143894,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6800/autosom id: MONDO:0007819 name: solitary median maxillary central incisor syndrome def: "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." [OMIM:147250] +subset: gard_rare {source="GARD:4877"} subset: ordo_clinical_subtype {source="Orphanet:2286"} synonym: "Fused incisors" RELATED [OMIM:147250] synonym: "incisors fused" RELATED [GARD:0004877] @@ -142855,6 +143906,7 @@ synonym: "SMMCI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:147250, Orphanet:2286] synonym: "SMMCI syndrome" RELATED [OMIM:147250] synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250] synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250] +xref: GARD:4877 {source="OMIM:147250"} xref: ICD10CM:K00.2 {source="Orphanet:2286", source="Orphanet:2286/attributed", source="Orphanet:2286/ntbt"} xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} @@ -142873,11 +143925,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007820 name: fused mandibular incisors def: "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." [Orphanet:2287] -subset: gard_rare {source="GARD:0002419"} +subset: gard_rare {source="GARD:2419"} subset: ordo_morphological_anomaly {source="Orphanet:2287"} synonym: "'Double Tooth'" RELATED [OMIM:147251] synonym: "Double tooth" RELATED [GARD:0002419] synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251] +xref: GARD:2419 {source="Orphanet:2287"} xref: ICD10CM:K00.2 {source="Orphanet:2287", source="Orphanet:2287/attributed", source="Orphanet:2287/ntbt"} xref: MESH:C535997 {source="Orphanet:2287", source="Orphanet:2287/e"} xref: OMIM:147251 {source="Orphanet:2287", source="MONDO:equivalentTo", source="Orphanet:2287/e"} @@ -142958,6 +144011,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007827 name: inclusion body myositis def: "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." [https://orcid.org/0000-0001-5208-3432, Orphanet:611] +subset: gard_rare {source="GARD:3896"} subset: ordo_disease {source="Orphanet:611"} synonym: "distal myopathy with rimmed vacuoles" RELATED EXCLUDE [DOID:3429] synonym: "distal myopathy with rimmed vacuoles (DMRV)" RELATED EXCLUDE [DOID:3429] @@ -142977,6 +144031,7 @@ synonym: "sIBM" EXACT [Orphanet:611] synonym: "sporadic inclusion body myositis" EXACT [Orphanet:611] xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"} xref: EFO:0007323 {source="MONDO:equivalentTo"} +xref: GARD:3896 {source="Orphanet:611"} xref: ICD10CM:G72.41 {source="DOID:3429"} xref: ICD10CM:M60.8 {source="Orphanet:611/ntbt", source="Orphanet:611"} xref: ICD9:359.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3429"} @@ -143010,11 +144065,13 @@ is_a: MONDO:0003847 {source="MESH:C564128/inferred"} ! hereditary disease [Term] id: MONDO:0007829 name: cholestasis, intrahepatic, of pregnancy, 1 +subset: gard_rare {source="GARD:15079"} synonym: "cholestasis, intrahepatic, of pregnancy, 1" EXACT [MONDO:Lexical, OMIM:147480] synonym: "cholestasis, intrahepatic, of pregnancy, type 1" EXACT [MONDORULE:1, OMIM:147480] synonym: "cholestasis, pregnancy-related, 1" RELATED [OMIM:147480] synonym: "ICP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147480] xref: DOID:0070228 {source="MONDO:equivalentTo"} +xref: GARD:15079 {source="OMIM:147480"} xref: OMIM:147480 {source="MONDO:equivalentTo"} xref: Orphanet:69665 {source="OMIM:147480"} xref: UMLS:C0268318 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -143101,7 +144158,7 @@ is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443"} ! intestinal obs id: MONDO:0007836 name: IVIC syndrome def: "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." [Orphanet:2307] -subset: gard_rare {source="GARD:0000269"} +subset: gard_rare {source="GARD:269"} subset: ordo_malformation_syndrome {source="Orphanet:2307"} synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269] synonym: "IVIC syndrome" EXACT [OMIM:147750] @@ -143111,6 +144168,7 @@ synonym: "OORS" RELATED ABBREVIATION [GARD:0000269] synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307] xref: DOID:0111381 {source="MONDO:equivalentTo"} +xref: GARD:269 {source="Orphanet:2307"} xref: ICD10CM:Q71.8 {source="Orphanet:2307/attributed", source="Orphanet:2307/ntbt", source="Orphanet:2307"} xref: MESH:C535544 {source="MONDO:equivalentTo"} xref: OMIM:147750 {source="Orphanet:2307/e", source="MONDO:equivalentTo", source="Orphanet:2307"} @@ -143129,7 +144187,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/269/ivic-syn id: MONDO:0007837 name: Johnson neuroectodermal syndrome def: "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." [Orphanet:2316] -subset: gard_rare {source="GARD:0000378"} +subset: gard_rare {source="GARD:378"} subset: ordo_malformation_syndrome {source="Orphanet:2316"} synonym: "Aadh syndrome" RELATED [OMIM:147770] synonym: "alopecia anosmia deafness hypogonadism syndrome" RELATED [GARD:0000378] @@ -143137,6 +144195,7 @@ synonym: "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" EXACT synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, Orphanet:2316] synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770] synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316] +xref: GARD:378 {source="Orphanet:2316"} xref: ICD10CM:Q87.8 {source="Orphanet:2316", source="Orphanet:2316/attributed", source="Orphanet:2316/ntbt"} xref: MESH:C535882 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: OMIM:147770 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} @@ -143155,6 +144214,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/378/johnson- id: MONDO:0007838 name: Jacobsen syndrome def: "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." [https://orcid.org/0000-0001-5208-3432, Orphanet:2308] +subset: gard_rare {source="GARD:307"} subset: ordo_malformation_syndrome {source="Orphanet:2308"} synonym: "11q terminal deletion disorder" EXACT [NCIT:C75457] synonym: "chromosome 11q deletion syndrome" RELATED [OMIM:147791] @@ -143169,6 +144229,7 @@ synonym: "monosomy 11qter" EXACT [Orphanet:2308] synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791] synonym: "telomeric deletion 11q" EXACT [Orphanet:2308] xref: DOID:0111723 {source="MONDO:equivalentTo"} +xref: GARD:307 {source="Orphanet:2308"} xref: ICD10CM:Q93.5 {source="Orphanet:2308", source="Orphanet:2308/attributed", source="Orphanet:2308/ntbt"} xref: MESH:D054868 {source="Orphanet:2308/e", source="Orphanet:2308"} xref: NCIT:C75457 {source="MONDO:equivalentTo"} @@ -143187,6 +144248,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007839 name: Aase-Smith syndrome def: "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." [Orphanet:916] +subset: gard_rare {source="GARD:5642"} subset: ordo_malformation_syndrome {source="Orphanet:916"} synonym: "Aase-Smith I syndrome" EXACT [Orphanet:916] synonym: "Aase-Smith syndrome" EXACT [OMIM:147800] @@ -143195,6 +144257,7 @@ synonym: "Aase-Smith syndrome I" RELATED [OMIM:147800] synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800] synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916] synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800] +xref: GARD:5642 {source="Orphanet:916"} xref: ICD10CM:Q87.8 {source="Orphanet:916/attributed", source="Orphanet:916/ntbt", source="Orphanet:916"} xref: MedDRA:10063429 {source="Orphanet:916/e", source="Orphanet:916"} xref: MESH:C535332 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"} @@ -143220,6 +144283,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007841 name: coxopodopatellar syndrome def: "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." [Orphanet:1509] +subset: gard_rare {source="GARD:3030"} subset: ordo_disease {source="Orphanet:1509"} synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" RELATED [GARD:0003030] synonym: "Coxo-podo-patellar syndrome" RELATED [GARD:0003030] @@ -143233,6 +144297,7 @@ synonym: "Scott-Taor syndrome" EXACT [OMIM:147891, Orphanet:1509] synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:1509] synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509] xref: DOID:0111382 {source="MONDO:equivalentTo"} +xref: GARD:3030 {source="Orphanet:1509"} xref: ICD10CM:Q74.1 {source="Orphanet:1509/attributed", source="Orphanet:1509/ntbt", source="Orphanet:1509"} xref: MESH:C535540 {source="MONDO:equivalentTo"} xref: OMIM:147891 {source="Orphanet:1509/e", source="MONDO:equivalentTo", source="Orphanet:1509"} @@ -143253,6 +144318,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007842 name: joint laxity, familial def: "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." [https://orcid.org/0000-0001-5208-3432, Orphanet:2295] +subset: gard_rare {source="GARD:3054"} subset: ordo_disease {source="Orphanet:2295"} synonym: "articular hypermobility syndrome" RELATED [OMIM:147900] synonym: "EDS 11 (formerly)" RELATED [GARD:0003054] @@ -143269,6 +144335,7 @@ synonym: "familial joint instability syndrome" EXACT [OMIM:147900, Orphanet:2295 synonym: "familial joint laxity" EXACT [Orphanet:2295] synonym: "Joint instability syndrome" EXACT [Orphanet:2295] synonym: "joint laxity, familial" EXACT [OMIM:147900] +xref: GARD:3054 {source="Orphanet:2295"} xref: ICD10CM:Q79.6 {source="Orphanet:2295/attributed", source="Orphanet:2295/ntbt", source="Orphanet:2295"} xref: MESH:C535884 {source="MONDO:equivalentTo"} xref: OMIM:147900 {source="Orphanet:2295/e", source="MONDO:equivalentTo", source="Orphanet:2295"} @@ -143300,6 +144367,7 @@ property_value: confidence "0.37362637362637363" xsd:double id: MONDO:0007844 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:3070"} synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:147950] @@ -143307,6 +144375,7 @@ synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MOND synonym: "KAL2" RELATED ABBREVIATION [GARD:0003070] synonym: "Kallmann syndrome 2" RELATED [OMIM:147950] xref: DOID:0090083 {source="MONDO:equivalentTo"} +xref: GARD:3070 {source="OMIM:147950"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090083"} xref: OMIM:147950 {source="MONDO:equivalentTo", source="DOID:0090083"} xref: UMLS:C1563720 {source="MONDO:equivalentTo", source="OMIM:147950", source="MONDO:ncbi_mim2gene_medline"} @@ -143320,11 +144389,13 @@ property_value: confidence "1.018928274356262" xsd:double [Term] id: MONDO:0007845 name: Kaposi sarcoma, susceptibility to +subset: gard_rare {source="GARD:15080"} subset: predisposition synonym: "Kaposi sarcoma, susceptibility to" EXACT [OMIM:148000] synonym: "multicentric Castleman disease, susceptibility to" RELATED [OMIM:148000] synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [OMIM:148000] synonym: "susceptibility to Kaposi sarcoma" RELATED [OMIM:148000] +xref: GARD:15080 {source="OMIM:148000"} xref: OMIM:148000 {source="MONDO:equivalentTo"} xref: Orphanet:160 {source="MONDO:relatedTo", source="OMIM:148000"} xref: Orphanet:33276 {source="OMIM:148000"} @@ -143339,7 +144410,7 @@ property_value: confidence "1.2376543209876543" xsd:double id: MONDO:0007846 name: KBG syndrome def: "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." [Orphanet:2332] -subset: gard_rare {source="GARD:0000082"} +subset: gard_rare {source="GARD:82"} subset: ordo_malformation_syndrome {source="Orphanet:2332"} synonym: "KBG syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:148050] synonym: "KBGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148050] @@ -143349,6 +144420,7 @@ synonym: "short stature, characteristic facies, macrodontia, intellectual disabi synonym: "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" RELATED DEPRECATED [GARD:0000082] synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332] xref: DOID:14780 {source="MONDO:equivalentTo"} +xref: GARD:82 {source="Orphanet:2332"} xref: ICD10CM:Q87.8 {source="Orphanet:2332/attributed", source="Orphanet:2332/ntbt", source="Orphanet:2332"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537015 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} @@ -143378,12 +144450,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007848 name: autosomal dominant keratitis def: "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia." [Orphanet:2334] +subset: gard_rare {source="GARD:3089"} subset: ordo_disease {source="Orphanet:2334"} synonym: "dominantly inherited keratitis" RELATED [GARD:0003089] synonym: "hereditary keratitis" EXACT [Orphanet:2334] synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "keratitis, hereditary" RELATED [OMIM:148190] xref: DOID:0111383 {source="MONDO:equivalentTo"} +xref: GARD:3089 {source="Orphanet:2334"} xref: ICD10CM:H16.8 {source="Orphanet:2334/attributed", source="Orphanet:2334/ntbt", source="Orphanet:2334"} xref: MESH:C537022 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} @@ -143460,6 +144534,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007852 name: palmoplantar keratoderma-deafness syndrome def: "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." [Orphanet:2202] +subset: gard_rare {source="GARD:3094"} subset: ordo_disease {source="Orphanet:2202"} synonym: "diffuse palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094] synonym: "focal palmoplantar keratoderma with sensorineural deafness (subtype)" RELATED [GARD:0003094] @@ -143473,6 +144548,7 @@ synonym: "palmoplantar keratoderma and sensorineural deafness" RELATED [GARD:000 synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202] synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202] xref: DOID:0111505 {source="MONDO:equivalentTo"} +xref: GARD:3094 {source="Orphanet:2202"} xref: ICD10CM:Q82.8 {source="Orphanet:2202/attributed", source="Orphanet:2202/ntbt", source="Orphanet:2202"} xref: MESH:C536152 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} xref: OMIM:148350 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} @@ -143485,10 +144561,12 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0007853 name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +subset: gard_rare {source="GARD:17977"} subset: ordo_disease synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [OMIM:148360] synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [OMIM:148360] synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [OMIM:148360] +xref: GARD:17977 {source="Orphanet:538574"} xref: MESH:C536153 {source="MONDO:equivalentTo"} xref: OMIM:148360 {source="MONDO:equivalentTo", source="Orphanet:538574"} xref: Orphanet:2201 {source="OMIM:148360"} @@ -143503,7 +144581,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007854 name: keratolytic winter erythema def: "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." [Orphanet:50943] -subset: gard_rare {source="GARD:0008275"} +subset: gard_rare {source="GARD:8275"} subset: ordo_disease {source="Orphanet:50943"} synonym: "Erythrokeratolysis hiemalis" EXACT [Orphanet:50943] synonym: "Erythrokeratolysis hiemalis ichthyosis" RELATED [GARD:0008275] @@ -143513,6 +144591,7 @@ synonym: "KWE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148370] synonym: "Oudtshoorn disease" EXACT [Orphanet:50943] synonym: "Oudtshoorn skin" RELATED [GARD:0008275] synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370] +xref: GARD:8275 {source="Orphanet:50943"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536155 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} xref: OMIM:148370 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} @@ -143538,7 +144617,7 @@ id: MONDO:0007856 name: palmoplantar keratoderma-esophageal carcinoma syndrome def: "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." [GARD:0003102, https://orcid.org/0000-0001-5208-3432] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare +subset: gard_rare {source="GARD:3102"} subset: ordo_disease {source="Orphanet:2198"} synonym: "Bennion-Patterson syndrome" EXACT [Orphanet:2198] synonym: "howel-Evans syndrome" RELATED [GARD:0003102] @@ -143555,6 +144634,7 @@ synonym: "tylosis - oesophageal carcinoma" RELATED [GARD:0003102] synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical, OMIM:148500] synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198] xref: DOID:0111506 {source="MONDO:equivalentTo"} +xref: GARD:3102 {source="Orphanet:2198"} xref: MESH:C536164 {source="MONDO:equivalentTo"} xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="Orphanet:2198/e"} xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"} @@ -143571,9 +144651,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3102/tylosis id: MONDO:0007857 name: keratosis palmaris et plantaris-clinodactyly syndrome def: "Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." [Orphanet:86919] +subset: gard_rare {source="GARD:16766"} subset: ordo_disease {source="Orphanet:86919"} synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520] synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919] +xref: GARD:16766 {source="Orphanet:86919"} xref: ICD10CM:Q82.8 {source="Orphanet:86919/attributed", source="Orphanet:86919/ntbt", source="Orphanet:86919"} xref: MESH:C563646 {source="MONDO:equivalentTo"} xref: OMIM:148520 {source="Orphanet:86919/e", source="MONDO:equivalentTo", source="Orphanet:86919"} @@ -143586,6 +144668,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0007858 name: palmoplantar keratoderma, punctate type 1A def: "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15081"} synonym: "AAGAB punctate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "keratoderma, palmoplantar, punctate type IA" EXACT [OMIM:148600, OMIM:genemap2] synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [OMIM:148600] @@ -143598,6 +144681,7 @@ synonym: "PPKP1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148600] synonym: "punctate palmoplantar keratoderma caused by mutation in AAGAB" EXACT [MONDO:design_pattern] synonym: "punctate palmoplantar keratoderma type 1A" RELATED [DOID:0080214] xref: DOID:0080214 {source="MONDO:equivalentTo"} +xref: GARD:15081 {source="OMIM:148600"} xref: OMIM:148600 {source="MONDO:equivalentTo", source="DOID:0080214"} xref: Orphanet:79501 {source="OMIM:148600"} xref: UMLS:C1835662 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:148600"} @@ -143612,6 +144696,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007859 name: palmoplantar keratoderma i, striate, focal, or diffuse +subset: gard_rare {source="GARD:9172"} synonym: "keratoderma, palmoplantar striate form 1" RELATED [GARD:0009172] synonym: "keratoderma, palmoplantar, striate form 1" RELATED [OMIM:148700] synonym: "keratosis palmoplantaris striata 1" RELATED [OMIM:148700] @@ -143622,6 +144707,7 @@ synonym: "PPKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148700] synonym: "SPPK1" RELATED ABBREVIATION [GARD:0009172] synonym: "striate palmoplantar keratoderma 1" RELATED [OMIM:148700] xref: DOID:0081108 {source="MONDO:equivalentTo"} +xref: GARD:9172 {source="OMIM:148700"} xref: MESH:C536162 {source="MONDO:equivalentTo"} xref: OMIM:148700 {source="MONDO:equivalentTo"} xref: Orphanet:369999 {source="MONDO:relatedTo", source="OMIM:148700"} @@ -143639,13 +144725,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007860 name: focal palmoplantar and gingival keratoderma def: "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." [Orphanet:2200] -subset: gard_rare {source="GARD:0003098"} +subset: gard_rare {source="GARD:3098"} subset: ordo_disease {source="Orphanet:2200"} synonym: "focal palmoplantar and gingival hyperkeratosis" EXACT [Orphanet:2200] synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [OMIM:148730] synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:0003098] synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098] synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730] +xref: GARD:3098 {source="Orphanet:2200"} xref: ICD10CM:Q82.8 {source="Orphanet:2200/attributed", source="Orphanet:2200/ntbt", source="Orphanet:2200"} xref: MESH:C536157 {source="MONDO:equivalentTo"} xref: OMIM:148730 {source="Orphanet:2200", source="MONDO:equivalentTo", source="Orphanet:2200/e"} @@ -143660,7 +144747,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3098/focal-p id: MONDO:0007861 name: isolated cloverleaf skull syndrome def: "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." [Orphanet:2343] -subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2343"} synonym: "cloverleaf skull" RELATED [OMIM:148800] synonym: "cloverleaf skull syndrome" RELATED [GARD:0003115, MESH:C536884] @@ -143688,7 +144774,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3115/kleebla id: MONDO:0007862 name: Waardenburg syndrome type 3 def: "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." [Orphanet:896] -subset: gard_rare {source="GARD:0005523"} +subset: gard_rare {source="GARD:5523"} subset: ordo_clinical_subtype {source="Orphanet:896"} synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, Orphanet:896] synonym: "Waardenburg syndrome type III" EXACT [DOID:0110949, Orphanet:896] @@ -143698,6 +144784,7 @@ synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical, OMIM:148820] synonym: "White forelock (poliosis) syndrome with multiple congenital malformations" RELATED [GARD:0005523] synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896] xref: DOID:0110949 {source="MONDO:equivalentTo"} +xref: GARD:5523 {source="Orphanet:896"} xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="Orphanet:896/attributed", source="Orphanet:896/ntbt", source="DOID:0110949"} xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="Orphanet:896/e", source="DOID:0110949"} xref: Orphanet:3440 {source="OMIM:148820"} @@ -143714,7 +144801,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5523/waarden id: MONDO:0007863 name: Kleine-Levin syndrome def: "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances." [Orphanet:33543] -subset: gard_rare {source="GARD:0003117"} +subset: gard_rare {source="GARD:3117"} subset: ordo_disease {source="Orphanet:33543"} synonym: "familial hibernation syndrome" RELATED [GARD:0003117] synonym: "familial Kleine-Levin syndrome" RELATED [GARD:0003117] @@ -143723,6 +144810,7 @@ synonym: "Kleine-LEVIN hibernation syndrome" RELATED [OMIM:148840] synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840] xref: DOID:0060165 {source="MONDO:equivalentTo"} xref: EFO:1001354 {source="MONDO:equivalentTo"} +xref: GARD:3117 {source="Orphanet:33543"} xref: ICD10CM:G47.8 {source="Orphanet:33543", source="Orphanet:33543/ntbt"} xref: MedDRA:10053712 {source="Orphanet:33543", source="Orphanet:33543/e"} xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} @@ -143742,7 +144830,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3117/kleine- id: MONDO:0007864 name: angioosteohypertrophic syndrome def: "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." [https://orcid.org/0000-0001-5208-3432, Orphanet:2346] -subset: gard_rare {source="GARD:0003122"} +subset: gard_rare {source="GARD:16788", source="GARD:3122"} subset: ordo_clinical_subtype {source="Orphanet:90308"} subset: ordo_disease {source="Orphanet:2346"} synonym: "angio-osteohypertrophy syndrome" RELATED [GARD:0003122] @@ -143759,6 +144847,8 @@ synonym: "Ktw syndrome" RELATED [OMIM:149000] synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122] xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"} xref: EFO:0007334 {source="MONDO:equivalentTo"} +xref: GARD:16788 {source="Orphanet:90308"} +xref: GARD:3122 {source="Orphanet:2346"} xref: ICD10CM:Q87.2 {source="Orphanet:2346/attributed", source="Orphanet:2346/ntbt", source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="Orphanet:90308/inclusion", source="DOID:2926"} xref: MedDRA:10051452 {source="Orphanet:90308", source="Orphanet:90308/e"} xref: MESH:D007715 {source="EFO:0007334", source="MONDO:equivalentTo", source="DOID:2926"} @@ -143802,6 +144892,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007866 name: Bart-Pumphrey syndrome +subset: gard_rare {source="GARD:3125"} subset: ordo_disease {source="Orphanet:2698"} synonym: "Bart-Pumphrey syndrome" EXACT [OMIM:149200, Orphanet:2698] synonym: "knuckle pads, leuconychia and sensorineural deafness" RELATED [GARD:0003125] @@ -143809,6 +144900,7 @@ synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [DOID:005 synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [Orphanet:2698] synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698] xref: DOID:0050658 {source="MONDO:equivalentTo"} +xref: GARD:3125 {source="Orphanet:2698"} xref: ICD10CM:Q82.8 {source="Orphanet:2698/attributed", source="Orphanet:2698/ntbt", source="Orphanet:2698"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537210 {source="MONDO:equivalentTo"} @@ -143875,7 +144967,6 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0007869 name: Kyrle disease def: "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." [https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease] -subset: gard_rare {source="GARD:0009738"} synonym: "hyperkeratosis follicularis et parafollicularis in cutem penetrans" RELATED [GARD:0009738] synonym: "Kyrle disease" EXACT [OMIM:149500] synonym: "Kyrle's disease" RELATED [GARD:0009738] @@ -143897,11 +144988,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007871 name: familial congenital nasolacrimal duct obstruction +subset: gard_rare {source="GARD:17784"} subset: ordo_morphological_anomaly {source="Orphanet:451612"} synonym: "lacrimal duct defect" RELATED [MONDO:Lexical, OMIM:149700] synonym: "lacrimal puncta, absence of" RELATED [OMIM:149700] synonym: "LCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149700] synonym: "nasolacrimal duct obstruction" RELATED [OMIM:149700] +xref: GARD:17784 {source="Orphanet:451612"} xref: ICD10CM:Q10.5 {source="Orphanet:451612", source="Orphanet:451612/index", source="Orphanet:451612/ntbt"} xref: MESH:C566703 {source="MONDO:equivalentTo"} xref: OMIM:149700 {source="MONDO:equivalentTo", source="Orphanet:451612", source="Orphanet:451612/e"} @@ -143918,6 +145011,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007872 name: LADD syndrome def: "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." [https://orcid.org/0000-0001-5208-3432, Orphanet:2363] +subset: gard_rare {source="GARD:6848"} subset: ordo_malformation_syndrome {source="Orphanet:2363"} synonym: "Lacrimo-auriculo-dento-digital syndrome" EXACT [GARD:0006848] synonym: "Lacrimoauriculodento-digital syndrome" EXACT [GARD:0006848] @@ -143930,6 +145024,7 @@ synonym: "lard syndrome" EXACT [Orphanet:2363] synonym: "Levy Hollister syndrome" EXACT [GARD:0006848] synonym: "Levy-Hollister syndrome" EXACT [DOID:0050331, Orphanet:2363] xref: DOID:0050331 {source="MONDO:equivalentTo"} +xref: GARD:6848 {source="Orphanet:2363"} xref: ICD10CM:Q87.8 {source="Orphanet:2363", source="Orphanet:2363/attributed", source="Orphanet:2363/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538132 {source="MONDO:equivalentTo"} @@ -143960,6 +145055,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007874 name: trichorhinophalangeal syndrome type II def: "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." [Orphanet:502] +subset: gard_rare {source="GARD:7801"} subset: ordo_malformation_syndrome {source="Orphanet:502"} synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [OMIM:150230] synonym: "deletion 8q24.1" EXACT [Orphanet:502] @@ -143974,6 +145070,7 @@ synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical, OMIM: synonym: "TRPS 2" RELATED [GARD:0007801] synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150230] xref: DOID:4998 {source="MONDO:equivalentTo"} +xref: GARD:7801 {source="Orphanet:502"} xref: ICD10CM:Q87.8 {source="Orphanet:502", source="Orphanet:502/attributed", source="Orphanet:502/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050638 {source="Orphanet:502", source="Orphanet:502/e"} @@ -144005,13 +145102,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007875 name: Larsen syndrome def: "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." [Orphanet:503] -subset: gard_rare {source="GARD:0006860"} +subset: gard_rare {source="GARD:6860"} subset: ordo_malformation_syndrome {source="Orphanet:503"} synonym: "autosomal dominant Larsen syndrome" RELATED [GARD:0006860] synonym: "dominant Larsen syndrome" EXACT [DOID:14764] synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250] synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250] xref: DOID:14764 {source="MONDO:equivalentTo"} +xref: GARD:6860 {source="Orphanet:503"} xref: ICD10CM:Q74.8 {source="Orphanet:503/inclusion", source="Orphanet:503/ntbt", source="Orphanet:503"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580241 {source="MONDO:equivalentTo"} @@ -144035,6 +145133,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6860/larsen- id: MONDO:0007876 name: laryngeal abductor paralysis comment: Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. {source="OMIM:150260"} +subset: gard_rare {source="GARD:5509"} subset: ordo_malformation_syndrome {source="Orphanet:2808"} synonym: "familial vocal cord dysfunction" EXACT [Orphanet:2808] synonym: "Gerhardt syndrome" EXACT [OMIM:150260, Orphanet:2808] @@ -144042,6 +145141,7 @@ synonym: "Labd" RELATED [OMIM:150260] synonym: "laryngeal abductor paralysis" EXACT [OMIM:150260] synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260] +xref: GARD:5509 {source="Orphanet:2808"} xref: ICD10CM:J38.0 {source="Orphanet:2808", source="Orphanet:2808/attributed", source="Orphanet:2808/ntbt"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="Orphanet:2808/e"} @@ -144069,11 +145169,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007878 name: congenital laryngomalacia def: "Increased collapsibility of the larynx." [NCIT:C98971] +subset: gard_rare {source="GARD:6865"} subset: ordo_malformation_syndrome {source="Orphanet:2373"} synonym: "congenital laryngeal stridor" RELATED [GARD:0006865] synonym: "laryngomalacia" RELATED [OMIM:150280] synonym: "laryngomalacia congenital" RELATED [GARD:0006865] xref: DOID:0080833 {source="MONDO:equivalentTo"} +xref: GARD:6865 {source="Orphanet:2373"} xref: ICD10CM:Q31.5 {source="Orphanet:2373/specific", source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060786 {source="Orphanet:2373/e", source="Orphanet:2373"} @@ -144091,12 +145193,14 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0007879 name: larynx atresia def: "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." [NCIT:C98972] +subset: gard_rare {source="GARD:3194"} subset: ordo_malformation_syndrome {source="Orphanet:1202"} synonym: "congenital atresia of larynx" EXACT [NCIT:C98972] synonym: "congenital atresia of the larynx" EXACT [NCIT:C98972] synonym: "congenital partial atresia of the larynx" RELATED [GARD:0003192] synonym: "laryngeal atresia" EXACT [NCIT:C98972] synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300] +xref: GARD:3194 {source="Orphanet:1202"} xref: ICD10CM:Q31.8 {source="Orphanet:1202/ntbt", source="Orphanet:1202/inclusion", source="Orphanet:1202"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563637 {source="MONDO:equivalentTo"} @@ -144114,7 +145218,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007880 name: congenital laryngeal web def: "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [Orphanet:2374] -subset: gard_rare +subset: gard_rare {source="GARD:16596"} subset: ordo_malformation_syndrome {source="Orphanet:2374"} synonym: "gay Feinmesser Cohen syndrome" RELATED [GARD:0002446] synonym: "glottic web, congenital anterior" RELATED [OMIM:150360] @@ -144124,6 +145228,7 @@ synonym: "laryngeal web, familial" RELATED [OMIM:150360] synonym: "subglottic Bar" RELATED [OMIM:150360] synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] synonym: "subglottic web" RELATED [OMIM:150360] +xref: GARD:16596 {source="Orphanet:2374"} xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="Orphanet:2374/e", source="Orphanet:2374/specific"} xref: MedDRA:10023871 {source="Orphanet:2374", source="Orphanet:2374/e"} xref: MESH:C537676 {source="MONDO:equivalentTo"} @@ -144147,6 +145252,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2446/gay-fei id: MONDO:0007881 name: tooth agenesis, selective, 4 def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18245"} synonym: "lateral incisors, absence of" RELATED [OMIM:150400] synonym: "lateral incisors, pegged or missing" RELATED [OMIM:150400] synonym: "STHAG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150400] @@ -144156,6 +145262,7 @@ synonym: "tooth agenesis, selective, 4" EXACT [MONDO:Lexical, OMIM:150400] synonym: "tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [OMIM:150400] synonym: "tooth agenesis, selective, type 4" EXACT [MONDORULE:1, OMIM:150400] synonym: "WNT10A tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18245 {source="OMIM:150400"} xref: MESH:C563634 {source="MONDO:equivalentTo"} xref: OMIM:150400 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:150400"} @@ -144204,7 +145311,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007885 name: Legg-Calve-Perthes disease def: "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." [GARD:0006874, Orphanet:2380] -subset: gard_rare {source="GARD:0006874"} +subset: gard_rare {source="GARD:6874"} subset: ordo_disease {source="Orphanet:2380"} synonym: "aseptic necrosis of the capital femoral epiphysis" EXACT [Orphanet:2380] synonym: "Calve - Perthes' disease" EXACT [DOID:14415] @@ -144230,6 +145337,7 @@ synonym: "Pseudocoxalgia" EXACT [DOID:14415] synonym: "pseudocoxalgia" EXACT [DOID:14415] xref: DOID:14415 {source="MONDO:equivalentTo", source="EFO:0007341"} xref: EFO:0007341 {source="MONDO:equivalentTo"} +xref: GARD:6874 {source="Orphanet:2380"} xref: ICD10CM:M91.1 {source="Orphanet:2380/e", source="Orphanet:2380/specific", source="Orphanet:2380"} xref: ICD10CM:M91.2 {source="DOID:14415"} xref: ICD10CM:M91.3 {source="DOID:14415"} @@ -144334,10 +145442,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007887 name: leiomyoma of vulva and esophagus -subset: gard_rare {source="GARD:0010097"} +subset: gard_rare {source="GARD:10097"} synonym: "esophagogastric and vulvar leiomyomatosis" RELATED [GARD:0010097] synonym: "leiomyoma of vulva and esophagus" EXACT [OMIM:150700] synonym: "leiomyomatosis, esophagogastric and vulvar" RELATED [OMIM:150700] +xref: GARD:10097 {source="OMIM:150700"} xref: MESH:C537006 {source="MONDO:equivalentTo"} xref: OMIM:150700 {source="MONDO:equivalentTo"} xref: Orphanet:1018 {source="OMIM:150700"} @@ -144350,7 +145459,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10097/leiomy id: MONDO:0007888 name: hereditary leiomyomatosis and renal cell cancer def: "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." [Orphanet:523] -subset: gard_rare +subset: gard_rare {source="GARD:10096"} subset: ordo_disease {source="Orphanet:523"} synonym: "familial leiomyomatosis" EXACT [MONDO:0023616] synonym: "familial leiomyomatosis and renal cell cancer" EXACT [Orphanet:523] @@ -144376,6 +145485,7 @@ synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal ce synonym: "multiple cutaneous leiomyomata" RELATED [GARD:0010096] synonym: "Reed syndrome" EXACT [Orphanet:523] synonym: "Reed's syndrome" RELATED [GARD:0010096] +xref: GARD:10096 {source="Orphanet:523"} xref: ICD10CM:C64 {source="Orphanet:523/attributed", source="Orphanet:523/ntbt", source="Orphanet:523"} xref: MESH:C535516 {source="MONDO:equivalentTo"} xref: NCIT:C51302 {source="MONDO:equivalentTo"} @@ -144413,6 +145523,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007891 name: familial generalized lentiginosis def: "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." [Orphanet:231040] +subset: gard_rare {source="GARD:17158"} subset: ordo_disease {source="Orphanet:231040"} synonym: "familial lentigines profusa" EXACT [Orphanet:231040] synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040] @@ -144421,6 +145532,7 @@ synonym: "lentiginosis, diffuse" RELATED [OMIM:151001] synonym: "lentiginosis, generalised" RELATED OMO:0003005 [] synonym: "lentiginosis, generalized" RELATED [OMIM:151001] synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001] +xref: GARD:17158 {source="Orphanet:231040"} xref: ICD10CM:L81.4 {source="Orphanet:231040/attributed", source="Orphanet:231040/ntbt", source="Orphanet:231040"} xref: MESH:C573023 {source="MONDO:equivalentTo"} xref: OMIM:151001 {source="Orphanet:231040/e", source="MONDO:equivalentTo", source="Orphanet:231040"} @@ -144435,7 +145547,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0007892 name: Lenz-Majewski hyperostotic dwarfism def: "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." [Orphanet:2658] -subset: gard_rare {source="GARD:0003223"} +subset: gard_rare {source="GARD:3223"} subset: ordo_malformation_syndrome {source="Orphanet:2658"} synonym: "hyperostotic dwarfism Lenz-Majewski type" RELATED [GARD:0003223] synonym: "Lenz Majewski hyperostotic dwarfism" RELATED [GARD:0003223] @@ -144446,6 +145558,7 @@ synonym: "LMHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151050] synonym: "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis" RELATED [GARD:0003223] synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED DEPRECATED [GARD:0003223] xref: DOID:0111507 {source="MONDO:equivalentTo"} +xref: GARD:3223 {source="Orphanet:2658"} xref: ICD10CM:Q87.1 {source="Orphanet:2658", source="Orphanet:2658/attributed", source="Orphanet:2658/ntbt"} xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} @@ -144471,6 +145584,7 @@ id: MONDO:0007893 name: Noonan syndrome with multiple lentigines def: "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." [https://orcid.org/0000-0001-5208-3432, Orphanet:500] subset: clingen +subset: gard_rare {source="GARD:1100"} subset: ordo_malformation_syndrome {source="Orphanet:500"} synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:14291] synonym: "cardiocutaneous syndrome" RELATED EXCLUDE [DOID:14291] @@ -144487,6 +145601,7 @@ synonym: "Moynahan syndrome" RELATED [DOID:14291] synonym: "Noonan syndrome with multiple lentigines" EXACT CLINGEN_PREFERRED [] synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291] xref: DOID:14291 {source="MONDO:equivalentTo"} +xref: GARD:1100 {source="Orphanet:500"} xref: ICD10CM:Q87.1 {source="Orphanet:500", source="Orphanet:500/attributed", source="Orphanet:500/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062901 {source="Orphanet:500", source="Orphanet:500/e"} @@ -144513,7 +145628,7 @@ property_value: confidence "3.6800000000000015" xsd:double id: MONDO:0007894 name: Leri pleonosteosis def: "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." [Orphanet:2900] -subset: gard_rare {source="GARD:0000088"} +subset: gard_rare {source="GARD:88"} subset: ordo_malformation_syndrome {source="Orphanet:2900"} synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [OMIM:151200] synonym: "Leri pleonosteosis" EXACT [OMIM:151200] @@ -144521,6 +145636,7 @@ synonym: "leri pleonosteosis chromosome duplication syndrome" EXACT [OMIM:151200 synonym: "Leri type pleonosteosis" RELATED [GARD:0000088] synonym: "Leri's pleonosteosis" RELATED [GARD:0000088] synonym: "pleonosteosis Leri type" RELATED [GARD:0000088] +xref: GARD:88 {source="Orphanet:2900"} xref: ICD10CM:Q68.8 {source="Orphanet:2900", source="Orphanet:2900/attributed", source="Orphanet:2900/ntbt"} xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} @@ -144537,6 +145653,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/88/leri-pleo [Term] id: MONDO:0007895 name: platyspondylic dysplasia, Torrance type +subset: gard_rare {source="GARD:4382"} subset: ordo_malformation_syndrome {source="Orphanet:85166"} synonym: "lethal short-limbed Platyspondylic dwarfism Torrance type" RELATED [GARD:0004382] synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [OMIM:151210] @@ -144552,6 +145669,7 @@ synonym: "thanatophoric dysplasia Torrance variant" RELATED [GARD:0004382] synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210] synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210] xref: DOID:0111508 {source="MONDO:equivalentTo"} +xref: GARD:4382 {source="Orphanet:85166"} xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="Orphanet:85166/attributed", source="Orphanet:85166/ntbt"} xref: MESH:C563627 {source="MONDO:equivalentTo"} xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="Orphanet:85166/e"} @@ -144568,7 +145686,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007896 name: acute monocytic leukemia def: "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." [Orphanet:514] -subset: gard_rare +subset: gard_rare {source="GARD:525"} subset: ordo_disease {source="Orphanet:514"} synonym: "acute monoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic leukaemia and acute monocytic leukaemia" EXACT OMO:0003005 [] @@ -144598,6 +145716,7 @@ synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute] xref: CSP:2004-2820 {source="DOID:8864"} xref: DOID:8864 {source="EFO:0000221", source="MONDO:equivalentTo"} xref: EFO:0000221 {source="MONDO:equivalentTo"} +xref: GARD:525 {source="Orphanet:514"} xref: ICD9:206.0 {source="DOID:8864", source="EFO:0000221"} xref: ICDO:9891/3 {source="NCIT:C4861"} xref: MedDRA:10000871 {source="Orphanet:514", source="Orphanet:514/e"} @@ -144662,7 +145781,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007900 name: nonsyndromic congenital nail disorder 3 def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare synonym: "Gorlin Bushkell Jensen syndrome" RELATED [GARD:0002555] synonym: "inherited isolated nail anomaly caused by mutation in PLCD1" EXACT [MONDO:design_pattern] synonym: "leukonychia punctata" RELATED [OMIM:151600] @@ -144731,9 +145849,10 @@ replaced_by: MONDO:0018875 id: MONDO:0007904 name: median nodule of the upper lip def: "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." [Orphanet:2699] -subset: gard_rare {source="GARD:0003440"} +subset: gard_rare {source="GARD:3440"} subset: ordo_malformation_syndrome {source="Orphanet:2699"} synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630] +xref: GARD:3440 {source="Orphanet:2699"} xref: ICD10CM:Q18.8 {source="Orphanet:2699", source="Orphanet:2699/attributed", source="Orphanet:2699/ntbt"} xref: OMIM:151630 {source="MONDO:equivalentTo", source="Orphanet:2699", source="Orphanet:2699/e"} xref: Orphanet:2699 {source="MONDO:equivalentTo", source="OMIM:151630"} @@ -144759,6 +145878,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007906 name: familial partial lipodystrophy, Dunnigan type def: "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." [Orphanet:2348] +subset: gard_rare {source="GARD:3126"} subset: ordo_disease {source="Orphanet:2348"} synonym: "Dunnigan syndrome" EXACT [Orphanet:2348] synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [DOID:0070202] @@ -144773,6 +145893,7 @@ synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [OMIM:15166 synonym: "lipodystrophy, reverse partial" RELATED [OMIM:151660] synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202] xref: DOID:0070202 {source="MONDO:equivalentTo"} +xref: GARD:3126 {source="Orphanet:2348"} xref: ICD10CM:E88.1 {source="Orphanet:2348", source="Orphanet:2348/attributed", source="Orphanet:2348/ntbt"} xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="Orphanet:2348/e"} xref: Orphanet:2348 {source="MONDO:equivalentTo", source="DOID:0070202", source="OMIM:151660"} @@ -144800,7 +145921,7 @@ relationship: disease_has_location UBERON:0001811 ! conjunctiva id: MONDO:0007908 name: multiple symmetric lipomatosis def: "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." [Orphanet:2398] -subset: gard_rare {source="GARD:0006957"} +subset: gard_rare {source="GARD:6957"} subset: ordo_disease {source="Orphanet:2398"} synonym: "benign symmetrical lipomatosis" RELATED [GARD:0006957] synonym: "cephalothoracic lipodystrophy" EXACT [Orphanet:2398] @@ -144822,6 +145943,7 @@ synonym: "multiple symmetrical lipomatosis" EXACT [MONDO:0002521, NCIT:C4392] xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"} xref: DOID:3137 {source="MONDO:obsolete", source="EFO:1000737"} xref: EFO:1000737 {source="MONDO:equivalentTo"} +xref: GARD:6957 {source="Orphanet:2398"} xref: ICD10CM:E88.8 {source="Orphanet:2398/ntbt", source="Orphanet:2398", source="Orphanet:2398/inclusion"} xref: MESH:D008069 {source="DOID:3137", source="DOID:14116"} xref: NCIT:C4392 {source="MONDO:equivalentTo", source="DOID:14116"} @@ -144844,10 +145966,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6957/multipl id: MONDO:0007909 name: familial multiple lipomatosis def: "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." [Orphanet:199276] +subset: gard_rare {source="GARD:12925"} subset: ordo_disease {source="Orphanet:199276"} synonym: "lipoma" RELATED [OMIM:151900] synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900] synonym: "lipomatosis, multiple" RELATED [OMIM:151900] +xref: GARD:12925 {source="Orphanet:199276"} xref: ICD10CM:E88.2 {source="Orphanet:199276/attributed", source="Orphanet:199276/ntbt", source="Orphanet:199276"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:214.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -144909,6 +146033,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007915 name: systemic lupus erythematosus def: "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." [NCIT:P378] +subset: gard_rare {source="GARD:18695"} subset: ordo_disease synonym: "disseminated lupus erythematosus" EXACT [DOID:9074] synonym: "excess LMW-DNA" RELATED [OMIM:152700] @@ -144923,6 +146048,7 @@ synonym: "systemic lupus erythematosus susceptibility to" EXACT [OMIM:152700, OM synonym: "systemic lupus erythematosus, susceptibility to" EXACT [OMIM:152700, OMIM:genemap2] xref: DOID:9074 {source="MONDO:equivalentTo", source="EFO:0002690"} xref: EFO:0002690 {source="DOID:9074", source="MONDO:equivalentTo"} +xref: GARD:18695 {source="Orphanet:536"} xref: HP:0002725 {source="MONDO:otherHierarchy"} xref: ICD10CM:M32 {source="DOID:9074"} xref: ICD10CM:M32.0 {source="Orphanet:536"} @@ -144953,13 +146079,14 @@ property_value: IAO:0000589 "systemic lupus erythematosus (disease)" xsd:string id: MONDO:0007916 name: primary intestinal lymphangiectasia def: "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." [Orphanet:90362] -subset: gard_rare {source="GARD:0007873"} +subset: gard_rare {source="GARD:7873"} subset: ordo_disease {source="Orphanet:90362"} synonym: "familial Waldmann's disease (type)" RELATED [GARD:0007873] synonym: "lymphangiectasia, intestinal" RELATED [OMIM:152800] synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873] synonym: "Waldmann disease" EXACT [Orphanet:90362] synonym: "Waldmann's disease" RELATED [GARD:0007873] +xref: GARD:7873 {source="Orphanet:90362"} xref: ICD10CM:I89.0 {source="Orphanet:90362/attributed", source="Orphanet:90362/ntbt", source="Orphanet:90362"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536567 {source="Orphanet:90362", source="Orphanet:90362/e"} @@ -144981,9 +146108,11 @@ id: MONDO:0007917 name: lymphedema-cerebral arteriovenous anomaly syndrome def: "Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." [Orphanet:86914] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) +subset: gard_rare {source="GARD:9217"} subset: ordo_malformation_syndrome {source="Orphanet:86914"} synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900] synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217] +xref: GARD:9217 {source="Orphanet:86914"} xref: MESH:C563612 {source="MONDO:equivalentTo"} xref: OMIM:152900 {source="Orphanet:86914/e", source="MONDO:equivalentTo", source="Orphanet:86914"} xref: Orphanet:86914 {source="OMIM:152900", source="MONDO:equivalentTo"} @@ -144997,6 +146126,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007918 name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability def: "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [Orphanet:2526] +subset: gard_rare {source="GARD:3622"} subset: ordo_malformation_syndrome {source="Orphanet:2526"} synonym: "Cdmmr syndrome" RELATED [OMIM:152950] synonym: "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" EXACT [DOID:0060349] @@ -145016,6 +146146,7 @@ synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [Orphanet: synonym: "MLCRD" EXACT ABBREVIATION [Orphanet:2526] synonym: "Mlcrd syndrome" RELATED [OMIM:152950] xref: DOID:0060349 {source="MONDO:equivalentTo"} +xref: GARD:3622 {source="Orphanet:2526"} xref: ICD10CM:Q87.8 {source="Orphanet:2526", source="Orphanet:2526/attributed", source="Orphanet:2526/ntbt"} xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} @@ -145036,6 +146167,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007919 name: lymphatic malformation 1 def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:3328", source="GARD:7220"} synonym: "congenital hereditary lymphedema" EXACT [GARD:0007220] synonym: "congenital primary lymphedema" EXACT [Orphanet:79452] synonym: "early onset lymphedema" EXACT [GARD:0007220] @@ -145055,6 +146187,8 @@ synonym: "Nonne’s syndrome" EXACT [GARD:0007220] synonym: "primary congenital lymphedema" EXACT [OMIM:153100] xref: DOID:0070210 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0070212 {source="MONDO:equivalentTo"} +xref: GARD:3328 {source="OMIM:153100"} +xref: GARD:7220 {source="Orphanet:79452"} xref: OMIM:153100 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:equivalentTo", source="OMIM:153100"} xref: SCTID:399889006 {source="MONDO:equivalentTo"} @@ -145070,6 +146204,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007920 name: lymphatic malformation 5 def: "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." [Orphanet:90186] +subset: gard_rare {source="GARD:3324"} subset: ordo_disease {source="Orphanet:90186"} synonym: "hereditary lymphedema type II" EXACT [Orphanet:90186] synonym: "late-onset lymphedema" EXACT [DOID:0070213] @@ -145083,6 +146218,7 @@ synonym: "lymphedema, late-onset" RELATED [OMIM:153200] synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200] synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186] xref: DOID:0070213 {source="MONDO:equivalentTo"} +xref: GARD:3324 {source="Orphanet:90186"} xref: ICD10CM:Q82.0 {source="Orphanet:90186/ntbt", source="Orphanet:90186", source="Orphanet:90186/index"} xref: MedDRA:10027138 {source="Orphanet:90186", source="Orphanet:90186/e"} xref: MESH:C562467 {source="MONDO:equivalentTo"} @@ -145102,7 +146238,7 @@ property_value: confidence "2.599999999999999" xsd:double id: MONDO:0007921 name: yellow nail syndrome def: "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." [https://orcid.org/0000-0001-5208-3432, Orphanet:662] -subset: gard_rare {source="GARD:0000184"} +subset: gard_rare {source="GARD:184"} subset: ordo_disease {source="Orphanet:662"} synonym: "lymphedema and Yellow nails" RELATED [OMIM:153300] synonym: "lymphedema with yellow nails" EXACT [Orphanet:662] @@ -145111,6 +146247,7 @@ synonym: "YNS" EXACT ABBREVIATION [Orphanet:662] synonym: "Yns" RELATED [OMIM:153300] xref: DOID:0050468 {source="MONDO:equivalentTo"} xref: EFO:1001452 {source="MONDO:equivalentTo"} +xref: GARD:184 {source="Orphanet:662"} xref: ICD10CM:L60.5 {source="MONDO:equivalentTo", source="Orphanet:662/ntbt", source="DOID:0050468", source="Orphanet:662"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -145131,13 +146268,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/184/yellow-n id: MONDO:0007922 name: lymphedema-distichiasis syndrome def: "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." [Orphanet:33001] -subset: gard_rare {source="GARD:0000333"} +subset: gard_rare {source="GARD:333"} subset: ordo_malformation_syndrome {source="Orphanet:33001"} synonym: "hereditary lymphedema-distichiasis syndrome (subtype)" RELATED [GARD:0000333] synonym: "lymphedema with distichiasis" RELATED [OMIM:153400] synonym: "lymphedema-distichiasis syndrome" EXACT CLINGEN_PREFERRED [OMIM:153400] synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400] xref: DOID:0111509 {source="MONDO:equivalentTo"} +xref: GARD:333 {source="Orphanet:33001"} xref: ICD10CM:Q82.0 {source="Orphanet:33001/attributed", source="Orphanet:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537710 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"} @@ -145159,7 +146297,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/333/lymphede [Term] id: MONDO:0007923 name: macrocephaly, benign familial -subset: gard_rare {source="GARD:0000147"} synonym: "benign familial macrocephaly" RELATED [GARD:0000147] synonym: "benign familial megalencephaly" RELATED [GARD:0000147] synonym: "Cole-Hughes syndrome" RELATED [OMIM:153470] @@ -145175,7 +146312,7 @@ id: MONDO:0007924 name: Bannayan-Riley-Ruvalcaba syndrome def: "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." [Orphanet:109] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0005887"} +subset: gard_rare {source="GARD:5887"} subset: ordo_malformation_syndrome {source="Orphanet:109"} synonym: "Bannayan syndrome" EXACT [NCIT:C3939] synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [MONDO:Lexical, NCIT:C3939, OMIM:153480] @@ -145195,6 +146332,7 @@ synonym: "Ruvalcaba -Myhre-Smith syndrome" RELATED [GARD:0005887] synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657] synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480] xref: DOID:0050657 {source="MONDO:equivalentTo"} +xref: GARD:5887 {source="Orphanet:109"} xref: ICD10CM:Q87.8 {source="Orphanet:109", source="Orphanet:109/attributed", source="Orphanet:109/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3939 {source="MONDO:equivalentTo"} @@ -145224,6 +146362,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5887/bannaya id: MONDO:0007925 name: myelodysplastic syndrome associated with isolated del(5q) def: "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)" [NCIT:P378] +subset: gard_rare {source="GARD:8723"} subset: ordo_disease {source="Orphanet:86841"} synonym: "5q deletion syndrome" RELATED [GARD:0008723] synonym: "5Q minus syndrome" EXACT [NCIT:C6867] @@ -145244,6 +146383,7 @@ synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [NCIT:C6867] synonym: "refractory macrocytic anaemia due to 5q deletion" RELATED OMO:0003005 [] synonym: "refractory macrocytic anemia due to 5q deletion" RELATED [GARD:0008723] xref: DOID:0090016 {source="MONDO:equivalentTo"} +xref: GARD:8723 {source="Orphanet:86841"} xref: ICDO:9986/3 {source="NCIT:C6867"} xref: MESH:C535323 {source="MONDO:equivalentTo"} xref: NCIT:C6867 {source="MONDO:equivalentTo"} @@ -145278,8 +146418,10 @@ replaced_by: MONDO:0100280 [Term] id: MONDO:0007927 name: congenital macroglossia +subset: gard_rare {source="GARD:16599"} subset: ordo_malformation_syndrome {source="Orphanet:2430"} synonym: "macroglossia" RELATED [OMIM:153630] +xref: GARD:16599 {source="Orphanet:2430"} xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="Orphanet:2430/attributed", source="Orphanet:2430/ntbt"} xref: ICD9:750.15 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C531735 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} @@ -145313,11 +146455,13 @@ replaced_by: MONDO:0007954 id: MONDO:0007930 name: Bernard-Soulier syndrome, type A2, autosomal dominant def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." [DOID:0111059, PMID:11222377, PMID:1730088] +subset: gard_rare {source="GARD:15082"} synonym: "Bernard-Soulier syndrome type A2" RELATED [DOID:0111059] synonym: "Bernard-Soulier syndrome, type A2 (dominant)" EXACT [OMIM:153670, OMIM:genemap2] synonym: "Bernard-Soulier syndrome, type A2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:153670] synonym: "BSSA2" EXACT ABBREVIATION [DOID:0111059, MONDO:Lexical, OMIM:153670] xref: DOID:0111059 {source="MONDO:equivalentTo"} +xref: GARD:15082 {source="OMIM:153670"} xref: OMIM:153670 {source="MONDO:equivalentTo", source="DOID:0111059"} xref: Orphanet:274 {source="OMIM:153670"} xref: UMLS:C2750610 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -145331,7 +146475,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007931 name: vitelliform macular dystrophy 2 def: "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:1243] -subset: gard_rare +subset: gard_rare {source="GARD:182"} subset: ordo_disease {source="Orphanet:1243"} synonym: "Best disease" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] @@ -145351,6 +146495,7 @@ synonym: "vitelliform macular dystrophy, early-onset" EXACT [https://raredisease synonym: "vitelliform macular dystrophy, juvenile-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/] synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical, OMIM:153700] +xref: GARD:182 {source="Orphanet:1243"} xref: ICD10CM:H35.5 {source="Orphanet:1243/ntbt", source="MONDO:relatedTo", source="Orphanet:1243", source="Orphanet:1243/inclusion"} xref: OMIM:153700 {source="Orphanet:1243", source="MONDO:equivalentTo", source="Orphanet:1243/e", source="GARD:0000182"} xref: Orphanet:1243 {source="MONDO:equivalentTo", source="GARD:0000182", source="OMIM:153700"} @@ -145387,10 +146532,12 @@ property_value: confidence "1.4444444444444446" xsd:double [Term] id: MONDO:0007933 name: vitelliform macular dystrophy 1 +subset: gard_rare {source="GARD:10120"} synonym: "macular dystrophy, atypical vitelliform" RELATED [OMIM:153840] synonym: "macular dystrophy, vitelliform, 1" RELATED [MONDO:Lexical, OMIM:153840] synonym: "vitelliform macular dystrophy, atypical" RELATED [GARD:0010120] synonym: "VMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153840] +xref: GARD:10120 {source="OMIM:153840"} xref: MESH:C537832 {source="MONDO:equivalentTo"} xref: OMIM:153840 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:153840"} @@ -145402,12 +146549,14 @@ is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vi id: MONDO:0007934 name: benign concentric annular macular dystrophy def: "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." [Orphanet:251287] +subset: gard_rare {source="GARD:9887"} subset: ordo_disease {source="Orphanet:251287"} synonym: "macular dystrophy, benign concentric annular" RELATED [OMIM:153870] synonym: "macular dystrophy, concentric annular" RELATED [OMIM:153870] synonym: "maculopathy, bull's eye" RELATED [GARD:0009887] synonym: "Mcdca" RELATED [OMIM:153870] synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2] +xref: GARD:9887 {source="Orphanet:251287"} xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"} xref: MESH:C537833 {source="MONDO:equivalentTo"} xref: OMIM:153870 {source="Orphanet:251287", source="MONDO:equivalentTo", source="Orphanet:251287/e"} @@ -145423,6 +146572,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007935 name: cystoid macular edema def: "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." [Orphanet:75381] +subset: gard_rare {source="GARD:16694"} subset: ordo_disease {source="Orphanet:75381"} synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381] synonym: "autosomal dominant cystoid macular oedema" EXACT OMO:0003005 [] @@ -145434,6 +146584,7 @@ synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:1538 synonym: "macular edema, cystoid" RELATED [OMIM:153880] synonym: "Mddc" RELATED [OMIM:153880] xref: DOID:4447 {source="MONDO:equivalentTo"} +xref: GARD:16694 {source="Orphanet:75381"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75381/attributed", source="Orphanet:75381/ntbt", source="Orphanet:75381"} xref: MESH:D008269 {source="DOID:4447"} xref: NCIT:C34794 {source="MONDO:equivalentTo", source="DOID:4447"} @@ -145460,7 +146611,7 @@ is_a: MONDO:0020242 {source="MONDO:cjm"} ! hereditary macular dystrophy id: MONDO:0007937 name: renal hypomagnesemia 2 def: "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." [Orphanet:34528] -subset: gard_rare {source="GARD:0003350"} +subset: gard_rare {source="GARD:3350"} subset: ordo_disease {source="Orphanet:34528"} synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [DOID:0060885] synonym: "familial primary hypomagnesemia caused by mutation in FXYD2" EXACT [] @@ -145475,6 +146626,7 @@ synonym: "magnesium wasting, renal" RELATED [OMIM:154020] synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern] synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528] xref: DOID:0060885 {source="MONDO:equivalentTo"} +xref: GARD:3350 {source="Orphanet:34528"} xref: ICD10CM:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/attributed", source="Orphanet:34528/ntbt"} xref: MESH:C537152 {source="MONDO:equivalentTo"} xref: OMIM:154020 {source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/e"} @@ -145494,6 +146646,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3350/renal-h id: MONDO:0007938 name: 46,XY sex reversal 4 def: "Sex reversal in an individual associated with a 9p24.3 deletion." [NCIT:C132270] +subset: gard_rare {source="GARD:15083"} synonym: "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion" RELATED [OMIM:154230] synonym: "46,XY SEX reversal 4" RELATED [OMIM:154230] synonym: "46,XY sex reversal 4" EXACT [MONDO:Lexical, OMIM:154230] @@ -145502,6 +146655,7 @@ synonym: "46XY sex reversal 4, Isolated cases" EXACT [OMIM:154230, OMIM:genemap2 synonym: "chromosome 9P24.3 deletion syndrome" RELATED [OMIM:154230] synonym: "SRXY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154230] xref: DOID:0111771 {source="MONDO:equivalentTo"} +xref: GARD:15083 {source="OMIM:154230"} xref: MESH:C567887 {source="MONDO:equivalentTo"} xref: NCIT:C132270 {source="MONDO:equivalentTo"} xref: OMIM:154230 {source="MONDO:equivalentTo"} @@ -145518,7 +146672,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007939 name: malignant hyperthermia, susceptibility to, 2 subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:3364"} subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 2" RELATED [GARD:0003364, MESH:C535695] synonym: "malignant hyperthermia susceptibility 2" EXACT [OMIM:154275, OMIM:genemap2] @@ -145527,6 +146681,7 @@ synonym: "malignant hyperthermia, susceptibility to, 2" EXACT [MESH:C535695, OMI synonym: "malignant hyperthermia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:154275] synonym: "MHS2" RELATED ABBREVIATION [GARD:0003364, MESH:C535695] synonym: "Mhs2" RELATED [OMIM:154275] +xref: GARD:3364 {source="OMIM:154275"} xref: MESH:C535695 {source="MONDO:equivalentTo"} xref: OMIM:154275 {source="MONDO:equivalentTo", source="GARD:0003364"} xref: Orphanet:423 {source="OMIM:154275", source="GARD:0003364"} @@ -145540,7 +146695,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3364/maligna [Term] id: MONDO:0007940 name: malignant hyperthermia, susceptibility to, 3 -subset: gard_rare +subset: gard_rare {source="GARD:3365"} subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 3" RELATED [GARD:0003365, MESH:C535696] synonym: "malignant hyperthermia susceptibility 3" EXACT [OMIM:154276, OMIM:genemap2] @@ -145549,6 +146704,7 @@ synonym: "malignant hyperthermia, susceptibility to, 3" EXACT [MESH:C535696, OMI synonym: "malignant hyperthermia, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:154276] synonym: "MHS3" RELATED ABBREVIATION [GARD:0003365, MESH:C535696] synonym: "Mhs3" RELATED [OMIM:154276] +xref: GARD:3365 {source="OMIM:154276"} xref: MESH:C535696 {source="MONDO:equivalentTo"} xref: OMIM:154276 {source="GARD:0003365", source="MONDO:equivalentTo"} xref: Orphanet:423 {source="GARD:0003365", source="OMIM:154276"} @@ -145583,7 +146739,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007943 name: Nager acrofacial dysostosis def: "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." [Orphanet:245] -subset: gard_rare {source="GARD:0000498"} +subset: gard_rare {source="GARD:498"} subset: ordo_malformation_syndrome {source="Orphanet:245"} synonym: "acrofacial dysostosis 1, Nager type" EXACT [DOID:5768, MONDO:Lexical, OMIM:154400] synonym: "AFD" RELATED ABBREVIATION [DOID:5768] @@ -145600,6 +146756,7 @@ synonym: "preaxial acrofacial dysostosis" RELATED [DOID:5768] synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768] synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498] xref: DOID:5768 {source="MONDO:equivalentTo"} +xref: GARD:498 {source="Orphanet:245"} xref: ICD10CM:Q75.4 {source="Orphanet:245/attributed", source="Orphanet:245/ntbt", source="Orphanet:245"} xref: MESH:C538184 {source="Orphanet:245/e", source="MONDO:equivalentTo", source="Orphanet:245"} xref: NCIT:C35795 {source="DOID:5768"} @@ -145656,6 +146813,7 @@ is_a: MONDO:0003847 {source="MESH:C563601/inferred"} ! hereditary disease id: MONDO:0007946 name: jaw-winking syndrome def: "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis." [Orphanet:91412] +subset: gard_rare {source="GARD:6972"} subset: ordo_disease {source="Orphanet:91412"} synonym: "abnormal innervation syndrome of eyelid" RELATED [DOID:560, ICD9CM:374.43] synonym: "familial Marcus Gunn phenomenon (subtype)" RELATED [GARD:0006972] @@ -145670,6 +146828,7 @@ synonym: "Marcus-Gunn syndrome" EXACT [DOID:560] synonym: "Maxillopalpebral synkinesis" RELATED [OMIM:154600] synonym: "pterygoid-levator synkinesis" EXACT [DOID:560] xref: DOID:560 {source="MONDO:equivalentTo"} +xref: GARD:6972 {source="Orphanet:91412"} xref: ICD10CM:Q07.8 {source="Orphanet:91412/inclusion", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/ntbt"} xref: ICD9:374.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:560"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -145695,7 +146854,7 @@ id: MONDO:0007947 name: Marfan syndrome def: "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." [https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome] subset: clingen -subset: gard_rare {source="GARD:0006975"} +subset: gard_rare {source="GARD:16535", source="GARD:6975"} subset: ordo_clinical_subtype {source="Orphanet:284963"} subset: ordo_disease {source="Orphanet:558"} subset: prototype_pattern {source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/101"} @@ -145706,6 +146865,8 @@ synonym: "Marfan's syndrome" EXACT [DOID:14323] synonym: "MFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:154700, Orphanet:558] synonym: "MFS1" EXACT ABBREVIATION [Orphanet:284963] xref: DOID:14323 {source="MONDO:equivalentTo"} +xref: GARD:16535 {source="Orphanet:558"} +xref: GARD:6975 {source="Orphanet:284963"} xref: ICD10CM:Q87.4 {source="Orphanet:558", source="Orphanet:284963/attributed", source="Orphanet:284963/ntbt", source="Orphanet:558/specific", source="Orphanet:284963", source="Orphanet:558/e", source="DOID:14323"} xref: ICD10CM:Q87.40 {source="DOID:14323"} xref: ICD9:759.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14323"} @@ -145742,7 +146903,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6975/marfan- [Term] id: MONDO:0007948 name: marfanoid hypermobility syndrome -subset: gard_rare {source="GARD:0003387"} synonym: "marfanoid hypermobility syndrome" EXACT [OMIM:154750] xref: MESH:C531742 {source="MONDO:equivalentTo"} xref: OMIM:154750 {source="MONDO:equivalentTo"} @@ -145755,11 +146915,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3387/marfano id: MONDO:0007949 name: Marshall syndrome def: "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." [Orphanet:560] +subset: gard_rare {source="GARD:6984"} subset: ordo_malformation_syndrome {source="Orphanet:560"} synonym: "deafness, myopia, cataract, saddle nose-Marshall type" RELATED [GARD:0006984] synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780] synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780] xref: DOID:0111510 {source="MONDO:equivalentTo"} +xref: GARD:6984 {source="Orphanet:560"} xref: ICD10CM:Q87.0 {source="Orphanet:560", source="Orphanet:560/attributed", source="Orphanet:560/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536025 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} @@ -145783,6 +146945,7 @@ id: MONDO:0007950 name: mastocytosis def: "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." [NCIT:C84269] subset: disease_grouping +subset: gard_rare {source="GARD:6987"} subset: ordo_group_of_disorders {source="Orphanet:98292"} synonym: "MAST cell disease" RELATED [OMIM:154800] synonym: "Mast cell disease" EXACT [NCIT:C84269] @@ -145790,6 +146953,7 @@ synonym: "mast cell hyperplasia" EXACT [DOID:350] synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800] synonym: "urticaria pigmentosa" RELATED [OMIM:154800] xref: DOID:350 {source="MONDO:equivalentTo"} +xref: GARD:6987 {source="Orphanet:98292"} xref: ICD10CM:C96.2 {source="Orphanet:98292", source="Orphanet:98292/btnt"} xref: ICD10CM:D47.0 {source="Orphanet:98292", source="Orphanet:98292/btnt"} xref: ICD10CM:Q82.2 {source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/btnt"} @@ -145825,7 +146989,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007952 name: maxillofacial dysostosis -subset: gard_rare {source="GARD:0006991"} synonym: "maxillofacial dysostosis" EXACT [OMIM:155000] xref: MESH:C563599 {source="MONDO:equivalentTo"} xref: OMIM:155000 {source="MONDO:equivalentTo"} @@ -145837,6 +147000,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6991/maxillo id: MONDO:0007953 name: Binder syndrome def: "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." [Orphanet:1248] +subset: gard_rare {source="GARD:6992"} subset: ordo_malformation_syndrome {source="Orphanet:1248"} synonym: "Binder syndrome" EXACT [Orphanet:1248] synonym: "binder syndrome" EXACT [OMIM:155050] @@ -145845,6 +147009,7 @@ synonym: "Maxillonasal dysostosis" EXACT [Orphanet:1248] synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248] synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050] xref: DOID:14683 {source="MONDO:equivalentTo"} +xref: GARD:6992 {source="Orphanet:1248"} xref: ICD10CM:Q75.8 {source="Orphanet:1248", source="Orphanet:1248/attributed", source="Orphanet:1248/ntbt"} xref: MESH:C536036 {source="MONDO:equivalentTo", source="DOID:14683"} xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683", source="Orphanet:1248/e"} @@ -145896,13 +147061,14 @@ is_a: MONDO:0003847 {source="EFO:1001036"} ! hereditary disease id: MONDO:0007956 name: Pai syndrome def: "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." [Orphanet:1993] -subset: gard_rare +subset: gard_rare {source="GARD:3439"} subset: ordo_malformation_syndrome {source="Orphanet:1993"} synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993] synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439] synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] +xref: GARD:3439 {source="Orphanet:1993"} xref: ICD10CM:Q87.8 {source="Orphanet:1993/attributed", source="Orphanet:1993/ntbt", source="Orphanet:1993"} xref: MESH:C536135 {source="MONDO:equivalentTo"} xref: OMIM:155145 {source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="Orphanet:1993/e"} @@ -145925,6 +147091,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007958 name: familial medullary thyroid carcinoma def: "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:16901"} subset: ordo_clinical_subtype {source="Orphanet:99361"} synonym: "familial medullary thyroid carcinoma" EXACT CLINGEN_PREFERRED [] synonym: "familial MTC" EXACT [Orphanet:99361] @@ -145936,6 +147103,7 @@ synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155240] synonym: "Mtc1" RELATED [OMIM:155240] synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547, MONDO:Lexical, OMIM:155240] xref: DOID:0050547 {source="MONDO:equivalentTo"} +xref: GARD:16901 {source="Orphanet:99361"} xref: ICD10CM:C73 {source="Orphanet:99361/attributed", source="Orphanet:99361/ntbt", source="Orphanet:99361"} xref: MESH:C536911 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="Orphanet:99361"} xref: OMIM:155240 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="DOID:0050547", source="Orphanet:99361"} @@ -145953,7 +147121,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007959 name: medulloblastoma def: "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." [NCIT:C3222] -subset: gard_rare {source="GARD:0007005"} +subset: gard_rare {source="GARD:7005"} subset: ordo_disease {source="Orphanet:616"} synonym: "brain medulloblastoma" EXACT [DOID:0050902] synonym: "cerebellar medulloblastoma" EXACT [DOID:0060104] @@ -145976,6 +147144,7 @@ synonym: "medulloblastomas" EXACT [NCIT:C3222] xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0060104 {source="MONDO:equivalentTo"} xref: EFO:0002939 {source="MONDO:equivalentTo"} +xref: GARD:7005 {source="Orphanet:616"} xref: ICD10CM:C71.6 {source="Orphanet:616", source="Orphanet:616/ntbt"} xref: ICDO:9470/3 {source="NCIT:C3222"} xref: MedDRA:10027107 {source="Orphanet:616", source="Orphanet:616/e"} @@ -146049,6 +147218,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007963 name: melanoma, cutaneous malignant, susceptibility to, 1 +subset: gard_rare {source="GARD:18472"} subset: predisposition synonym: "B-K Mole syndrome" RELATED [OMIM:155600] synonym: "CMM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155600] @@ -146060,6 +147230,7 @@ synonym: "melanoma, cutaneous malignant, susceptibility to, 1" EXACT [MONDO:Lexi synonym: "melanoma, familial" RELATED [OMIM:155600] synonym: "melanoma, malignant" RELATED [OMIM:155600] synonym: "melanoma, malignant, somatic" EXACT [OMIM:155600, OMIM:genemap2] +xref: GARD:18472 {source="OMIM:155600"} xref: OMIM:155600 {source="MONDO:equivalentTo"} xref: Orphanet:404560 {source="OMIM:155600"} xref: Orphanet:618 {source="OMIM:155600"} @@ -146081,6 +147252,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007964 name: melanoma, cutaneous malignant, susceptibility to, 2 def: "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" [MESH:D004416] +subset: gard_rare {source="GARD:18575"} subset: predisposition synonym: "Atypical Mole syndrome" EXACT [NCIT:C7584] synonym: "B-K Mole syndrome" EXACT [NCIT:C7584] @@ -146093,6 +147265,7 @@ synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDO synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [OMIM:155601] xref: DOID:10041 {source="MONDO:equivalentTo"} xref: EFO:0004199 {source="MONDO:equivalentTo"} +xref: GARD:18575 {source="OMIM:155601"} xref: MESH:D004416 {source="MONDO:equivalentTo", source="DOID:10041"} xref: NCIT:C7584 {source="MONDO:equivalentTo"} xref: OMIM:155601 {source="MONDO:equivalentTo", source="DOID:10041"} @@ -146115,7 +147288,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007965 name: melanoma, malignant familial intraocular +subset: gard_rare {source="GARD:18576"} synonym: "melanoma, malignant familial intraocular" EXACT [OMIM:155700] +xref: GARD:18576 {source="OMIM:155700"} xref: MESH:C563596 {source="MONDO:equivalentTo"} xref: OMIM:155700 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:155700"} @@ -146137,11 +147312,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007967 name: melanoma and neural system tumor syndrome def: "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." [Orphanet:252206] +subset: gard_rare {source="GARD:8468"} subset: ordo_disease {source="Orphanet:252206"} synonym: "melanoma and neural system tumor syndrome" EXACT [OMIM:155755] synonym: "melanoma astrocytoma syndrome" RELATED [GARD:0008468] synonym: "melanoma-astrocytoma syndrome" EXACT [OMIM:155755, Orphanet:252206] xref: DOID:0111511 {source="MONDO:equivalentTo"} +xref: GARD:8468 {source="Orphanet:252206"} xref: MESH:C536149 {source="MONDO:equivalentTo"} xref: OMIM:155755 {source="Orphanet:252206/e", source="MONDO:equivalentTo", source="Orphanet:252206"} xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"} @@ -146169,7 +147346,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007969 name: Melkersson-Rosenthal syndrome def: "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." [Orphanet:2483] -subset: gard_rare {source="GARD:0007010"} +subset: gard_rare {source="GARD:7010"} subset: ordo_malformation_syndrome {source="Orphanet:2483"} synonym: "cheilitis Granulomatosa" RELATED [GARD:0007010] synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [DOID:1761] @@ -146180,6 +147357,7 @@ synonym: "Mros" RELATED [OMIM:155900] synonym: "MRS" RELATED ABBREVIATION [GARD:0007010] xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"} xref: EFO:1001039 {source="MONDO:equivalentTo"} +xref: GARD:7010 {source="Orphanet:2483"} xref: ICD10CM:G51.2 {source="Orphanet:2483/e", source="DOID:1761", source="Orphanet:2483"} xref: MedDRA:10027166 {source="Orphanet:2483/e", source="EFO:1001039", source="Orphanet:2483"} xref: MESH:D008556 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="Orphanet:2483"} @@ -146202,12 +147380,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7010/melkers id: MONDO:0007970 name: melorheostosis def: "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." [Orphanet:2485] -subset: gard_rare {source="GARD:0009474"} +subset: gard_rare {source="GARD:9474"} subset: ordo_malformation_syndrome {source="Orphanet:2485"} synonym: "Mel" RELATED [OMIM:155950] synonym: "melorheostosis, isolated" RELATED [OMIM:155950] synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:genemap2] xref: DOID:4253 {source="MONDO:equivalentTo"} +xref: GARD:9474 {source="Orphanet:2485"} xref: ICD10CM:M85.8 {source="Orphanet:2485", source="Orphanet:2485/index", source="Orphanet:2485/ntbt"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050284 {source="Orphanet:2485", source="Orphanet:2485/e"} @@ -146231,10 +147410,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9474/melorhe id: MONDO:0007971 name: delayed membranous cranial ossification def: "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." [Orphanet:3034] -subset: gard_rare {source="GARD:0001727"} +subset: gard_rare {source="GARD:1727"} subset: ordo_malformation_syndrome {source="Orphanet:3034"} synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034] synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980] +xref: GARD:1727 {source="Orphanet:3034"} xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="Orphanet:3034/attributed", source="Orphanet:3034/ntbt"} xref: MESH:C563592 {source="MONDO:equivalentTo"} xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="Orphanet:3034/e"} @@ -146286,6 +147466,7 @@ relationship: disease_has_feature MONDO:0001020 ! amblyopia id: MONDO:0007974 name: intellectual disability, autosomal dominant 1 def: "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." [NCIT:C141424] +subset: gard_rare {source="GARD:18623"} synonym: "autosomal dominant intellectual disability 1" EXACT [DOID:0070031] synonym: "autosomal dominant mental retardation 1" EXACT DEPRECATED [DOID:0070031] synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [DOID:0070031] @@ -146298,6 +147479,7 @@ synonym: "mental retardation, autosomal dominant 1" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:156200] synonym: "MRD1" EXACT ABBREVIATION [DOID:0070031, MONDO:Lexical, OMIM:156200] xref: DOID:0070031 {source="MONDO:equivalentTo"} +xref: GARD:18623 {source="OMIM:156200"} xref: MESH:C566947 {source="MONDO:equivalentTo"} xref: NCIT:C141424 {source="MONDO:equivalentTo"} xref: OMIM:156200 {source="DOID:0070031", source="MONDO:equivalentTo"} @@ -146324,7 +147506,6 @@ is_a: MONDO:0023757 ! meralgia paresthetica [Term] id: MONDO:0007976 name: mesomelic dwarfism of hypoplastic tibia and radius type -subset: gard_rare {source="GARD:0007313"} synonym: "mesomelic dwarfism of hypoplastic tibia and radius type" EXACT [OMIM:156230] xref: MESH:C563589 {source="MONDO:equivalentTo"} xref: OMIM:156230 {source="MONDO:equivalentTo"} @@ -146336,7 +147517,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7313/mesomel id: MONDO:0007977 name: mesomelic dysplasia, Kantaputra type def: "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." [Orphanet:1836] -subset: gard_rare {source="GARD:0003074"} +subset: gard_rare {source="GARD:3074"} subset: ordo_malformation_syndrome {source="Orphanet:1836"} synonym: "Kantaputra mesomelic dysplasia" EXACT [Orphanet:1836] synonym: "MDK" EXACT ABBREVIATION [Orphanet:1836] @@ -146348,6 +147529,7 @@ synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232] synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836] synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156232] +xref: GARD:3074 {source="Orphanet:1836"} xref: ICD10CM:Q78.8 {source="Orphanet:1836/attributed", source="Orphanet:1836/ntbt", source="Orphanet:1836"} xref: MESH:C535547 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} xref: OMIM:156232 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} @@ -146373,12 +147555,13 @@ replaced_by: MONDO:0006292 id: MONDO:0007979 name: metachondromatosis def: "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." [Orphanet:2499] -subset: gard_rare {source="GARD:0003560"} +subset: gard_rare {source="GARD:3560"} subset: ordo_malformation_syndrome {source="Orphanet:2499"} synonym: "METACHONDROMATOSIS" RELATED ABBREVIATION [OMIM:156250] synonym: "metachondromatosis" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:156250] synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250] xref: DOID:0111512 {source="MONDO:equivalentTo"} +xref: GARD:3560 {source="Orphanet:2499"} xref: ICD10CM:Q78.4 {source="Orphanet:2499/attributed", source="Orphanet:2499/ntbt", source="Orphanet:2499"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562938 {source="MONDO:equivalentTo"} @@ -146423,7 +147606,7 @@ is_obsolete: true id: MONDO:0007982 name: metaphyseal chondrodysplasia, Jansen type def: "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." [Orphanet:33067] -subset: gard_rare +subset: gard_rare {source="GARD:79"} subset: ordo_disease {source="Orphanet:33067"} synonym: "Jansen disease" EXACT [DOID:0080020] synonym: "Jansen metaphyseal chondrodysplasia" EXACT [DOID:0080020] @@ -146435,6 +147618,7 @@ synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [OMIM:156400] synonym: "metaphyseal chondrodysplasia, murk Jansen type" RELATED [OMIM:156400] synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079] xref: DOID:0080020 {source="MONDO:equivalentTo"} +xref: GARD:79 {source="Orphanet:33067"} xref: ICD10CM:Q78.5 {source="Orphanet:33067/attributed", source="Orphanet:33067/ntbt", source="Orphanet:33067"} xref: MESH:C537564 {source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: NCIT:C131868 {source="MONDO:equivalentTo"} @@ -146459,6 +147643,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007983 name: Schmid metaphyseal chondrodysplasia def: "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." [Orphanet:174] +subset: gard_rare {source="GARD:7029"} subset: ordo_disease {source="Orphanet:174"} synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [DOID:0080021] synonym: "MCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156500] @@ -146467,6 +147652,7 @@ synonym: "metaphyseal chondrodysplasia, Schmid type" RELATED [MONDO:Lexical, OMI synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021] synonym: "spondylometaphyseal dysplasia, Japanese type" RELATED [OMIM:156500] xref: DOID:0080021 {source="MONDO:equivalentTo"} +xref: GARD:7029 {source="Orphanet:174"} xref: ICD10CM:Q78.5 {source="Orphanet:174/attributed", source="Orphanet:174/ntbt", source="Orphanet:174"} xref: MESH:C537352 {source="Orphanet:174/e", source="MONDO:equivalentTo", source="Orphanet:174"} xref: OMIM:156500 {source="Orphanet:174/e", source="DOID:0080021", source="MONDO:equivalentTo", source="Orphanet:174"} @@ -146490,12 +147676,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007984 name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome def: "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." [Orphanet:2504] -subset: gard_rare +subset: gard_rare {source="GARD:3568"} subset: ordo_malformation_syndrome {source="Orphanet:2504"} synonym: "MDMHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156510] synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GARD:0003568] synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510] xref: DOID:0111513 {source="MONDO:equivalentTo"} +xref: GARD:3568 {source="Orphanet:2504"} xref: ICD10CM:Q77.8 {source="Orphanet:2504", source="Orphanet:2504/attributed", source="Orphanet:2504/ntbt"} xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="Orphanet:2504/e"} xref: Orphanet:2504 {source="GARD:0003568", source="MONDO:equivalentTo", source="OMIM:156510"} @@ -146525,12 +147712,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007986 name: metatropic dysplasia def: "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." [Orphanet:2635] -subset: gard_rare {source="GARD:0003571"} +subset: gard_rare {source="GARD:3571"} subset: ordo_disease {source="Orphanet:2635"} synonym: "Metatropic dwarfism" EXACT [OMIM:156530, Orphanet:2635] synonym: "metatropic dysplasia" EXACT CLINGEN_PREFERRED [OMIM:156530] synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571] xref: DOID:0111514 {source="MONDO:equivalentTo"} +xref: GARD:3571 {source="Orphanet:2635"} xref: ICD10CM:Q77.8 {source="Orphanet:2635", source="Orphanet:2635/attributed", source="Orphanet:2635/ntbt"} xref: MESH:C537356 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"} xref: NCIT:C175209 {source="MONDO:equivalentTo"} @@ -146549,10 +147737,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3571/metatro id: MONDO:0007987 name: Kniest dysplasia def: "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." [Orphanet:485] -subset: gard_rare {source="GARD:0006841"} +subset: gard_rare {source="GARD:6841"} subset: ordo_disease {source="Orphanet:485"} synonym: "Kniest dysplasia" EXACT [OMIM:156550] xref: DOID:0080045 {source="MONDO:equivalentTo"} +xref: GARD:6841 {source="Orphanet:485"} xref: ICD10CM:Q77.7 {source="Orphanet:485/attributed", source="Orphanet:485/ntbt", source="Orphanet:485"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537207 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} @@ -146578,7 +147767,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6841/kniest- id: MONDO:0007988 name: autosomal dominant primary microcephaly def: "Autosomal dominant form of microcephaly (disease)." [MONDO:patterns/autosomal_dominant] -subset: gard_rare {source="GARD:0003605"} +subset: gard_rare {source="GARD:3605"} subset: ordo_etiological_subtype {source="Orphanet:2514"} synonym: "autosomal dominant microcephaly" RELATED [DOID:14725, GARD:0003605] synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605] @@ -146587,6 +147776,7 @@ synonym: "microcephaly autosomal dominant" RELATED [GARD:0003605] synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:0003605] synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580] xref: DOID:14725 {source="MONDO:equivalentTo"} +xref: GARD:3605 {source="Orphanet:2514"} xref: ICD10CM:Q02 {source="Orphanet:2514", source="Orphanet:2514/attributed", source="Orphanet:2514/ntbt"} xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} @@ -146607,7 +147797,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3605/microce id: MONDO:0007989 name: congenital microcoria def: "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." [Orphanet:566] -subset: gard_rare {source="GARD:0003635"} +subset: gard_rare {source="GARD:3635"} subset: ordo_malformation_syndrome {source="Orphanet:566"} synonym: "chromosome 13Q32 deletion syndrome" RELATED [OMIM:156600] synonym: "congenital miosis" EXACT [Orphanet:566] @@ -146615,6 +147805,7 @@ synonym: "Mcor" RELATED [OMIM:156600] synonym: "microcoria, congenital" RELATED [OMIM:156600] synonym: "miosis, congenital" RELATED [OMIM:156600] synonym: "pinhole pupils" RELATED [GARD:0003635] +xref: GARD:3635 {source="Orphanet:566"} xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} xref: Orphanet:566 {source="MONDO:equivalentTo", source="OMIM:156600"} @@ -146629,6 +147820,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3635/microco [Term] id: MONDO:0007990 name: multiple benign circumferential skin creases on limbs +subset: gard_rare {source="GARD:3589"} subset: ordo_disease {source="Orphanet:2505"} synonym: "CCSF" EXACT ABBREVIATION [Orphanet:2505] synonym: "circumferential skin creases, Kunze type" EXACT [Orphanet:2505] @@ -146640,6 +147832,7 @@ synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610] synonym: "Michelin tyre baby syndrome" RELATED OMO:0003005 [] synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610] xref: DOID:0112241 {source="MONDO:equivalentTo"} +xref: GARD:3589 {source="Orphanet:2505"} xref: ICD10CM:Q82.8 {source="Orphanet:2505/attributed", source="Orphanet:2505/ntbt", source="Orphanet:2505"} xref: MESH:C537575 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"} @@ -146651,6 +147844,7 @@ property_value: confidence "2.31578947368421" xsd:double id: MONDO:0007991 name: microcephaly-deafness-intellectual disability syndrome def: "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." [Orphanet:2533] +subset: gard_rare {source="GARD:230"} subset: ordo_malformation_syndrome {source="Orphanet:2533"} synonym: "Kawashima Tsuji syndrome" RELATED [GARD:0000230] synonym: "Kawashima-Tsuji syndrome" EXACT [Orphanet:2533] @@ -146658,6 +147852,7 @@ synonym: "microcephaly deafness syndrome" RELATED [GARD:0000230] synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620] synonym: "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies" RELATED [GARD:0000230] synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED DEPRECATED [GARD:0000230] +xref: GARD:230 {source="Orphanet:2533"} xref: ICD10CM:Q87.8 {source="Orphanet:2533/attributed", source="Orphanet:2533/ntbt", source="Orphanet:2533"} xref: MESH:C537326 {source="MONDO:equivalentTo"} xref: OMIM:156620 {source="Orphanet:2533", source="MONDO:equivalentTo", source="Orphanet:2533/e"} @@ -146674,9 +147869,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007992 name: microcornea-glaucoma-absent frontal sinuses syndrome def: "Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." [Orphanet:2536] +subset: gard_rare {source="GARD:3637"} subset: ordo_malformation_syndrome {source="Orphanet:2536"} synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637] synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700] +xref: GARD:3637 {source="Orphanet:2536"} xref: ICD10CM:Q15.8 {source="Orphanet:2536", source="Orphanet:2536/attributed", source="Orphanet:2536/ntbt"} xref: MESH:C537552 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} xref: OMIM:156700 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} @@ -146689,11 +147886,13 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007993 name: microgastria-limb reduction defect syndrome def: "This syndrome is characterized by the association of microgastria with a limb reduction defect." [Orphanet:2538] +subset: gard_rare {source="GARD:3640"} subset: ordo_malformation_syndrome {source="Orphanet:2538"} synonym: "congenital microgastria and limb reduction defects" RELATED [GARD:0003640] synonym: "microgastria limb reduction defect" RELATED [GARD:0003640] synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical, OMIM:156810] synonym: "MLRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156810] +xref: GARD:3640 {source="Orphanet:2538"} xref: ICD10CM:Q87.8 {source="Orphanet:2538/ntbt", source="Orphanet:2538"} xref: MESH:C537554 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"} xref: OMIM:156810 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"} @@ -146706,7 +147905,9 @@ property_value: confidence "8.6" xsd:double [Term] id: MONDO:0007994 name: micromelic bone dysplasia with cloverleaf skull +subset: gard_rare {source="GARD:1404"} synonym: "micromelic bone dysplasia with cloverleaf skull" EXACT [OMIM:156830] +xref: GARD:1404 {source="OMIM:156830"} xref: MESH:C536429 {source="MONDO:equivalentTo"} xref: OMIM:156830 {source="MONDO:equivalentTo"} xref: Orphanet:2655 {source="OMIM:156830"} @@ -146746,7 +147947,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007997 name: microspherophakia with hernia -subset: gard_rare {source="GARD:0009462"} synonym: "microspherophakia with hernia" EXACT [OMIM:157150] xref: MESH:C537468 {source="MONDO:equivalentTo"} xref: OMIM:157150 {source="MONDO:equivalentTo"} @@ -146758,11 +147958,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9462/microsp id: MONDO:0007998 name: microspherophakia-metaphyseal dysplasia syndrome def: "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." [Orphanet:2551] +subset: gard_rare {source="GARD:5481"} subset: ordo_malformation_syndrome {source="Orphanet:2551"} synonym: "dominantly inherited bone dysplasia with severe eye involvement" RELATED [GARD:0005481] synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151] synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481] synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551] +xref: GARD:5481 {source="Orphanet:2551"} xref: ICD10CM:Q87.5 {source="Orphanet:2551", source="Orphanet:2551/attributed", source="Orphanet:2551/ntbt"} xref: MESH:C536540 {source="MONDO:equivalentTo"} xref: OMIM:157151 {source="Orphanet:2551", source="MONDO:equivalentTo", source="Orphanet:2551/e"} @@ -146829,6 +148031,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008002 name: mirror movements 1 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15086"} synonym: "bimanual synergia" RELATED [OMIM:157600] synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern] @@ -146837,6 +148040,7 @@ synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OM synonym: "mirror movements type 1" EXACT [MONDORULE:1, OMIM:157600] synonym: "mirror movements, congenital" RELATED [OMIM:157600] synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157600] +xref: GARD:15086 {source="OMIM:157600"} xref: OMIM:157600 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="OMIM:157600"} xref: UMLS:C1834870 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:157600"} @@ -146852,12 +148056,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008003 name: autosomal dominant progressive external ophthalmoplegia def: "Autosomal dominant form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:16486"} subset: ordo_disease {source="Orphanet:254892"} synonym: "adPEO" EXACT [Orphanet:254892] synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:16486 {source="Orphanet:254892"} xref: ICD10CM:H49.4 {source="Orphanet:254892/attributed", source="Orphanet:254892/ntbt", source="Orphanet:254892"} xref: MESH:C563575 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:equivalentTo", source="OMIM:157640"} @@ -146871,11 +148077,13 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0008004 name: familial mitral valve prolapse def: "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:3687"} subset: ordo_morphological_anomaly {source="Orphanet:741"} synonym: "hereditary mitral valve prolapse (disease)" EXACT [MONDO:patterns/hereditary] synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical, OMIM:157700] synonym: "mitral valve prolapse, familial, autosomal dominant" RELATED [GARD:0003687] synonym: "MVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157700] +xref: GARD:3687 {source="Orphanet:741"} xref: ICD10CM:I34.1 {source="Orphanet:741", source="Orphanet:741/attributed", source="Orphanet:741/ntbt"} xref: OMIMPS:157700 {source="MONDO:equivalentTo"} xref: Orphanet:741 {source="MONDO:equivalentTo", source="OMIM:157700"} @@ -146895,6 +148103,7 @@ property_value: confidence "2.471428571428572" xsd:double id: MONDO:0008005 name: cardiospondylocarpofacial syndrome def: "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." [Orphanet:3238] +subset: gard_rare {source="GARD:2362"} subset: ordo_malformation_syndrome {source="Orphanet:3238"} synonym: "cardiospondylocarpofacial syndrome" EXACT [OMIM:157800] synonym: "congenital heart disease, deafness, and skeletal malformations" RELATED [GARD:0002362] @@ -146904,6 +148113,7 @@ synonym: "Forney syndrome" EXACT [Orphanet:3238] synonym: "Forney-Robinson-Pascoe syndrome" EXACT [Orphanet:3238] synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [OMIM:157800] synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238] +xref: GARD:2362 {source="Orphanet:3238"} xref: MESH:C563572 {source="MONDO:equivalentTo"} xref: NCIT:C188216 {source="MONDO:equivalentTo"} xref: OMIM:157800 {source="MONDO:equivalentTo", source="Orphanet:3238", source="Orphanet:3238/e"} @@ -146923,6 +148133,7 @@ id: MONDO:0008006 name: Mobius syndrome def: "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." [Orphanet:570] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:8549"} subset: ordo_disease {source="Orphanet:570"} synonym: "absence or underdevelopment of the 6th and 7th cranial nerves" RELATED [GARD:0008549] synonym: "congenital facial diplegia" EXACT [Orphanet:570] @@ -146938,6 +148149,7 @@ synonym: "Möbius syndrome" EXACT [NCIT:C84893, Orphanet:570] synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501] xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"} xref: EFO:1001046 {source="MONDO:equivalentTo"} +xref: GARD:8549 {source="Orphanet:570"} xref: ICD10CM:Q87.0 {source="Orphanet:570/inclusion", source="Orphanet:570/ntbt", source="Orphanet:570", source="DOID:13501"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027789 {source="EFO:1001046"} @@ -146963,6 +148175,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008007 name: tooth ankylosis def: "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." [Orphanet:1077] +subset: gard_rare {source="GARD:701"} subset: ordo_malformation_syndrome {source="Orphanet:1077"} synonym: "abnormal fusion of dental cementum with alveolar bone" RELATED [GARD:0000701] synonym: "ankylosis (disease) of calcareous tooth" EXACT [] @@ -146976,6 +148189,7 @@ synonym: "permanent molars, secondary retention OF" RELATED [OMIM:157950] synonym: "secondary retention of permanent molars" RELATED [GARD:0000701] xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"} xref: EFO:1001215 {source="MONDO:equivalentTo"} +xref: GARD:701 {source="Orphanet:1077"} xref: ICD10CM:K03.5 {source="Orphanet:1077", source="Orphanet:1077/e", source="DOID:12661", source="Orphanet:1077/specific"} xref: ICD9:521.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12661"} xref: MedDRA:10044019 {source="Orphanet:1077", source="Orphanet:1077/e", source="EFO:1001215"} @@ -146996,7 +148210,7 @@ property_value: confidence "2.7499999999999996" xsd:double id: MONDO:0008008 name: MOMO syndrome def: "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." [Orphanet:2563] -subset: gard_rare {source="GARD:0000178"} +subset: gard_rare {source="GARD:178"} subset: ordo_malformation_syndrome {source="Orphanet:2563"} synonym: "macrocephaly-obesity-mental disability-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" RELATED [GARD:0000178] @@ -147004,6 +148218,7 @@ synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [ synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD:0000178] synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "MOMO syndrome" EXACT [OMIM:157980] +xref: GARD:178 {source="Orphanet:2563"} xref: ICD10CM:Q87.3 {source="Orphanet:2563/attributed", source="Orphanet:2563/ntbt", source="Orphanet:2563"} xref: MESH:C535812 {source="MONDO:equivalentTo"} xref: OMIM:157980 {source="Orphanet:2563", source="MONDO:equivalentTo", source="Orphanet:2563/e"} @@ -147018,13 +148233,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/178/momo-syn id: MONDO:0008009 name: monilethrix def: "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." [Orphanet:573] -subset: gard_rare {source="GARD:0000093"} +subset: gard_rare {source="GARD:93"} subset: ordo_disease {source="Orphanet:573"} synonym: "MNLIX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158000] synonym: "monilethrix" EXACT [MONDO:Lexical, OMIM:158000] synonym: "moniliform hair syndrome" EXACT [Orphanet:573] synonym: "nodose hair" RELATED [GARD:0000093] xref: DOID:0050472 {source="MONDO:equivalentTo"} +xref: GARD:93 {source="Orphanet:573"} xref: ICD10CM:Q84.1 {source="Orphanet:573/ntbt", source="Orphanet:573/inclusion", source="Orphanet:573", source="DOID:0050472"} xref: MESH:D056734 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: NCIT:C84894 {source="MONDO:equivalentTo", source="DOID:0050472"} @@ -147073,6 +148289,7 @@ id: MONDO:0008013 name: chromosome 9p deletion syndrome def: "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." [Orphanet:261112] subset: disease_grouping +subset: gard_rare {source="GARD:3773"} subset: ordo_malformation_syndrome {source="Orphanet:261112"} synonym: "9p deletion" EXACT [GARD:0003773] synonym: "9p deletion syndrome" EXACT [Orphanet:261112] @@ -147092,6 +148309,7 @@ synonym: "partial monosomy 9p" EXACT [GARD:0003773] synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929] synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929] xref: DOID:0060732 {source="MONDO:equivalentTo"} +xref: GARD:3773 {source="Orphanet:261112"} xref: ICD10CM:Q93.5 {source="Orphanet:261929/attributed", source="Orphanet:261929/ntbt", source="Orphanet:261929", source="DOID:0060732", source="Orphanet:261112", source="Orphanet:261112/attributed", source="Orphanet:261112/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538024 {source="MONDO:equivalentTo"} @@ -147144,6 +148362,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008016 name: trismus-pseudocamptodactyly syndrome +subset: gard_rare {source="GARD:2621"} subset: ordo_malformation_syndrome {source="Orphanet:3377"} synonym: "arthrogryposis distal type 7" RELATED [GARD:0002621] synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical, OMIM:158300] @@ -147155,6 +148374,7 @@ synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377] synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300] xref: DOID:0111603 {source="MONDO:equivalentTo"} +xref: GARD:2621 {source="Orphanet:3377"} xref: ICD10CM:Q68.8 {source="Orphanet:3377/attributed", source="Orphanet:3377/ntbt", source="Orphanet:3377"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535857 {source="MONDO:equivalentTo"} @@ -147170,11 +148390,12 @@ property_value: confidence "25.875" xsd:double id: MONDO:0008017 name: hereditary mucoepithelial dysplasia def: "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia] -subset: gard_rare {source="GARD:0005427"} +subset: gard_rare {source="GARD:5427"} subset: ordo_malformation_syndrome {source="Orphanet:1839"} synonym: "HMD" EXACT ABBREVIATION [OMIM:158310] synonym: "mucoepithelial dysplasia, hereditary" EXACT [OMIM:158310] synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839] +xref: GARD:5427 {source="Orphanet:1839"} xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536476 {source="MONDO:equivalentTo"} xref: OMIM:158310 {source="Orphanet:1839/e", source="MONDO:equivalentTo", source="Orphanet:1839"} @@ -147189,6 +148410,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5427/heredit id: MONDO:0008018 name: Muir-Torre syndrome def: "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." [Orphanet:587] +subset: gard_rare {source="GARD:6821"} subset: ordo_clinical_subtype {source="Orphanet:587"} synonym: "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" RELATED [GARD:0006821] synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [OMIM:158320] @@ -147197,6 +148419,7 @@ synonym: "MUIR-Torre syndrome" RELATED [OMIM:158320] synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320] synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587] xref: DOID:0050465 {source="MONDO:equivalentTo"} +xref: GARD:6821 {source="Orphanet:587"} xref: ICD10CM:L72.8 {source="Orphanet:587", source="Orphanet:587/attributed", source="Orphanet:587/ntbt"} xref: MedDRA:10063042 {source="Orphanet:587", source="Orphanet:587/e"} xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} @@ -147218,6 +148441,7 @@ property_value: confidence "5.666666666666667" xsd:double id: MONDO:0008019 name: mullerian aplasia and hyperandrogenism def: "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." [NCIT:C120376] +subset: gard_rare {source="GARD:17195"} subset: ordo_malformation_syndrome {source="Orphanet:247768"} synonym: "mullerian aplasia and hyperandrogenism" EXACT [OMIM:158330] synonym: "Mullerian duct failure and hyperandrogenism" EXACT [OMIM:158330, Orphanet:247768] @@ -147225,6 +148449,7 @@ synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768] synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768] synonym: "WNT4 deficiency" EXACT [Orphanet:247768] xref: DOID:0111526 {source="MONDO:equivalentTo"} +xref: GARD:17195 {source="Orphanet:247768"} xref: ICD10CM:Q51.8 {source="Orphanet:247768", source="Orphanet:247768/attributed", source="Orphanet:247768/ntbt"} xref: MESH:C567186 {source="MONDO:equivalentTo"} xref: NCIT:C120376 {source="MONDO:equivalentTo"} @@ -147251,6 +148476,7 @@ is_a: MONDO:0003847 {source="MESH:C563566/inferred"} ! hereditary disease id: MONDO:0008021 name: Cowden syndrome 1 def: "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16450"} synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [OMIM:158350] synonym: "cerebelloparenchymal disorder 6" RELATED [OMIM:158350] synonym: "Cowden disease caused by mutation in PTEN" EXACT [MONDO:design_pattern] @@ -147264,6 +148490,7 @@ synonym: "Lhermitte-Duclos syndrome" EXACT [OMIM:158350, OMIM:genemap2] synonym: "multiple hamartoma syndrome" RELATED [OMIM:158350] synonym: "Proteus-like syndrome" RELATED [OMIM:158350] synonym: "PTEN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16450 {source="OMIM:158350"} xref: OMIM:158350 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:158350"} xref: Orphanet:2969 {source="OMIM:158350", source="MONDO:relatedTo"} @@ -147294,11 +148521,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008023 name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome def: "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." [Orphanet:2579] -subset: gard_rare +subset: gard_rare {source="GARD:2417"} subset: ordo_disease {source="Orphanet:2579"} synonym: "Furukawa-Takagi-Nakao syndrome" EXACT [Orphanet:2579] synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RELATED [GARD:0002417] synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500] +xref: GARD:2417 {source="Orphanet:2579"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538193 {source="Orphanet:2579", source="Orphanet:2579/e"} xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="GARD:0002417", source="Orphanet:2579/e"} @@ -147317,6 +148545,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2417/muscula id: MONDO:0008024 name: neuronopathy, distal hereditary motor, type 7A def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18269"} synonym: "Dhmn7A" RELATED [OMIM:158580] synonym: "Dhmnvp" RELATED [OMIM:158580] synonym: "Harper-Young myopathy" RELATED [OMIM:158580] @@ -147328,6 +148557,7 @@ synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [OMIM:158580] synonym: "SLC5A7 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [OMIM:158580] xref: DOID:0111201 {source="MONDO:equivalentTo"} +xref: GARD:18269 {source="OMIM:158580"} xref: MESH:C563562 {source="MONDO:equivalentTo"} xref: OMIM:158580 {source="MONDO:equivalentTo"} xref: Orphanet:139589 {source="OMIM:158580"} @@ -147344,6 +148574,7 @@ property_value: confidence "0.519607843137255" xsd:double id: MONDO:0008025 name: neuronopathy, distal hereditary motor, type 2A def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18262"} synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [OMIM:158590] synonym: "HMN 2A" RELATED [OMIM:158590] synonym: "HMN2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158590] @@ -147353,6 +148584,7 @@ synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexica synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [OMIM:158590] synonym: "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" RELATED [OMIM:158590] xref: DOID:0111208 {source="MONDO:equivalentTo"} +xref: GARD:18262 {source="OMIM:158590"} xref: MESH:C563561 {source="MONDO:equivalentTo"} xref: OMIM:158590 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="OMIM:158590"} @@ -147368,6 +148600,7 @@ property_value: confidence "0.519607843137255" xsd:double [Term] id: MONDO:0008026 name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +subset: gard_rare {source="GARD:13519"} subset: ordo_clinical_subtype {source="Orphanet:209341"} synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [OMIM:158600] synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [Orphanet:209341] @@ -147378,6 +148611,7 @@ synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELAT synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [OMIM:158600, OMIM:genemap2] synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600] xref: DOID:0070351 {source="MONDO:equivalentTo"} +xref: GARD:13519 {source="Orphanet:209341"} xref: ICD10CM:G12.1 {source="Orphanet:209341", source="Orphanet:209341/attributed", source="Orphanet:209341/ntbt"} xref: MESH:C563560 {source="MONDO:equivalentTo"} xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="Orphanet:209341/e"} @@ -147414,6 +148648,7 @@ id: MONDO:0008029 name: Bethlem myopathy def: "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." [NCIT:C126688] comment: Editor note: consider separating type 1 form +subset: gard_rare {source="GARD:873"} subset: ordo_disease {source="Orphanet:610"} subset: prototype_pattern synonym: "benign autosomal dominant myopathy" EXACT [Orphanet:610] @@ -147422,6 +148657,7 @@ synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical, OMIM:158810] synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810] synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810] xref: DOID:0050663 {source="MONDO:equivalentTo"} +xref: GARD:873 {source="Orphanet:610"} xref: ICD10CM:G71.0 {source="Orphanet:610", source="Orphanet:610/attributed", source="Orphanet:610/ntbt"} xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e"} xref: NCIT:C126688 {source="MONDO:equivalentTo"} @@ -147442,7 +148678,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008030 name: facioscapulohumeral muscular dystrophy 1 def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:15087"} synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles" RELATED [MESH:C536391, OMIM:158900] synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included" RELATED [MESH:C536391] synonym: "facioscapulohumeral muscular dystrophy" BROAD [MESH:C536391, OMIM:158900] @@ -147463,6 +148699,7 @@ synonym: "muscular dystrophy, facioscapulohumeral" RELATED [GARD:0009941] synonym: "muscular dystrophy, facioscapulohumeral, type 1" RELATED [MESH:C536391, OMIM:158900] synonym: "muscular dystrophy, facioscapulohumeral, type 1A" NARROW [GARD:0009941, MESH:C536391, OMIM:158900] xref: DOID:0111192 {source="MONDO:equivalentTo"} +xref: GARD:15087 {source="OMIM:158900"} xref: MESH:C536391 {source="MONDO:equivalentTo"} xref: NCIT:C172704 {source="MONDO:equivalentTo"} xref: OMIM:158900 {source="MONDO:equivalentTo", source="GARD:0009941"} @@ -147480,6 +148717,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9941/faciosc id: MONDO:0008031 name: facioscapulohumeral muscular dystrophy 2 def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15088"} synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:158901] synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [OMIM:158901] synonym: "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" EXACT [MONDO:design_pattern] @@ -147491,6 +148729,7 @@ synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [OMIM:158901 synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [OMIM:158901] synonym: "SMCHD1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111193 {source="MONDO:equivalentTo"} +xref: GARD:15088 {source="OMIM:158901"} xref: MESH:C563557 {source="MONDO:equivalentTo"} xref: NCIT:C172705 {source="MONDO:equivalentTo"} xref: OMIM:158901 {source="MONDO:equivalentTo"} @@ -147521,7 +148760,9 @@ replaced_by: MONDO:0021569 [Term] id: MONDO:0008034 name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries +subset: gard_rare {source="GARD:15089"} synonym: "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" EXACT [OMIM:159050] +xref: GARD:15089 {source="OMIM:159050"} xref: MESH:C563554 {source="MONDO:equivalentTo"} xref: OMIM:159050 {source="MONDO:equivalentTo"} xref: Orphanet:98895 {source="OMIM:159050"} @@ -147564,10 +148805,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008038 name: ataxia-pancytopenia syndrome def: "A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." [Orphanet:2585] +subset: gard_rare {source="GARD:3865"} subset: ordo_malformation_syndrome {source="Orphanet:2585"} synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550] synonym: "ATXPC" RELATED ABBREVIATION [OMIM:159550] synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585] +xref: GARD:3865 {source="Orphanet:2585"} xref: ICD10CM:D61.0 {source="Orphanet:2585/attributed", source="Orphanet:2585/ntbt", source="MONDO:relatedTo", source="Orphanet:2585"} xref: MESH:C563233 {source="MONDO:equivalentTo"} xref: NCIT:C176909 {source="MONDO:equivalentTo"} @@ -147585,6 +148828,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008039 name: tropical spastic paraparesis def: "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." [Orphanet:289326] +subset: gard_rare {source="GARD:8208"} subset: ordo_disease {source="Orphanet:289326"} synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [OMIM:159580] synonym: "ham" RELATED [MONDO:Lexical, OMIM:159580] @@ -147603,6 +148847,7 @@ synonym: "tropical spastic paraplegia" EXACT [DOID:321] synonym: "TSP" EXACT ABBREVIATION [Orphanet:289326] xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"} xref: EFO:0007527 {source="MONDO:equivalentTo"} +xref: GARD:8208 {source="Orphanet:289326"} xref: ICD10CM:G04.1 {source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"} xref: ICD9:323.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044696 {source="Orphanet:289326", source="Orphanet:289326/e"} @@ -147625,6 +148870,7 @@ property_value: confidence "2.9411764705882355" xsd:double id: MONDO:0008040 name: transient myeloproliferative syndrome def: "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." [NCIT:P378] +subset: gard_rare {source="GARD:12765"} subset: ordo_disease {source="Orphanet:420611"} synonym: "leukemia, transient" RELATED [OMIM:159595] synonym: "leukemia, transient, of Down syndrome" EXACT [OMIM:159595, OMIM:genemap2] @@ -147643,6 +148889,7 @@ synonym: "transient myeloproliferative disorder" EXACT [NCIT:C82339] synonym: "transient myeloproliferative syndrome" EXACT [MONDO:ambiguous] synonym: "transient myeloproliferative syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060888 {source="MONDO:equivalentTo"} +xref: GARD:12765 {source="Orphanet:420611"} xref: HP:0005534 {source="MONDO:otherHierarchy"} xref: ICDO:9898/1 {source="NCIT:C82339"} xref: MESH:C563551 {source="MONDO:equivalentTo"} @@ -147679,9 +148926,11 @@ replaced_by: MONDO:0008945 id: MONDO:0008043 name: myoclonus-cerebellar ataxia-deafness syndrome def: "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." [Orphanet:2589] +subset: gard_rare {source="GARD:3873"} subset: ordo_malformation_syndrome {source="Orphanet:2589"} synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873] synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800] +xref: GARD:3873 {source="Orphanet:2589"} xref: ICD10CM:G11.1 {source="Orphanet:2589", source="Orphanet:2589/attributed", source="Orphanet:2589/ntbt"} xref: MESH:C563549 {source="MONDO:equivalentTo"} xref: OMIM:159800 {source="MONDO:equivalentTo", source="Orphanet:2589", source="Orphanet:2589/e"} @@ -147694,6 +148943,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008044 name: myoclonic dystonia 11 def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18616"} subset: ordo_disease {source="Orphanet:36899"} synonym: "alcohol-responsive dystonia" EXACT [Orphanet:36899] synonym: "dystonia 11, myoclonic" RELATED [MONDO:Lexical, OMIM:159900] @@ -147708,6 +148958,7 @@ synonym: "myoclonus-dystonia syndrome" RELATED [OMIM:159900] synonym: "myoclonus-dystonia syndrome caused by mutation in SGCE" EXACT [] synonym: "SGCE myoclonus-dystonia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0090034 {source="MONDO:equivalentTo"} +xref: GARD:18616 {source="OMIM:159900"} xref: ICD10CM:G24.1 {source="Orphanet:36899", source="DOID:0090034"} xref: MESH:C536096 {source="Orphanet:36899"} xref: OMIM:159900 {source="Orphanet:36899", source="DOID:0090034", source="MONDO:equivalentTo"} @@ -147722,7 +148973,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008045 name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome def: "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." [Orphanet:2590] -subset: gard_rare +subset: gard_rare {source="GARD:3875"} subset: ordo_disease {source="Orphanet:2590"} synonym: "hereditary myoclonus and progressive distal muscular atrophy" RELATED [GARD:0003044] synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [Orphanet:2590] @@ -147733,6 +148984,7 @@ synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELAT synonym: "SMAPME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159950] synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical, OMIM:159950] xref: DOID:0111527 {source="MONDO:equivalentTo"} +xref: GARD:3875 {source="Orphanet:2590"} xref: ICD10CM:G25.3 {source="Orphanet:2590/attributed", source="Orphanet:2590/ntbt", source="Orphanet:2590"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537563 {source="MONDO:equivalentTo"} @@ -147754,8 +149006,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 id: MONDO:0008046 name: autosomal dominant myoglobinuria def: "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." [Orphanet:99846] +subset: gard_rare {source="GARD:16917"} subset: ordo_disease {source="Orphanet:99846"} synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010] +xref: GARD:16917 {source="Orphanet:99846"} xref: ICD10CM:R82.1 {source="Orphanet:99846", source="Orphanet:99846/attributed", source="Orphanet:99846/ntbt"} xref: MESH:C563546 {source="MONDO:equivalentTo"} xref: OMIM:160010 {source="MONDO:equivalentTo", source="Orphanet:99846", source="Orphanet:99846/e"} @@ -147773,6 +149027,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0008047 name: episodic ataxia type 1 def: "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." [Orphanet:37612] +subset: gard_rare {source="GARD:16641"} subset: ordo_disease {source="Orphanet:37612"} synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120] @@ -147794,6 +149049,7 @@ synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120] synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120] synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120] xref: DOID:0050989 {source="MONDO:equivalentTo"} +xref: GARD:16641 {source="Orphanet:37612"} xref: ICD10CM:G11.8 {source="Orphanet:37612/attributed", source="Orphanet:37612/ntbt", source="Orphanet:37612"} xref: OMIM:160120 {source="Orphanet:37612/e", source="MONDO:equivalentTo", source="DOID:0050989", source="Orphanet:37612"} xref: Orphanet:37612 {source="MONDO:equivalentTo", source="OMIM:160120"} @@ -147816,7 +149072,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008048 name: autosomal dominant centronuclear myopathy def: "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169189] -subset: gard_rare {source="GARD:0012719"} +subset: gard_rare {source="GARD:12719"} subset: ordo_disease {source="Orphanet:169189"} subset: prototype_pattern synonym: "AD-CNM" EXACT [Orphanet:169189] @@ -147836,6 +149092,7 @@ synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408] synonym: "myotubular myopathy, autosomal dominant" EXACT [OMIM:160150] xref: DOID:0111217 {source="MONDO:equivalentTo"} xref: DOID:0111223 {source="MONDO:equivalentTo"} +xref: GARD:12719 {source="Orphanet:169189"} xref: ICD10CM:G71.2 {source="Orphanet:169189", source="Orphanet:169189/attributed", source="Orphanet:169189/ntbt"} xref: NCIT:C126689 {source="MONDO:equivalentTo"} xref: OMIM:160150 {source="MONDO:equivalentTo"} @@ -147869,6 +149126,7 @@ is_a: MONDO:0018949 {source="DC-OMIM:160300"} ! distal myopathy id: MONDO:0008050 name: MYH7-related skeletal myopathy def: "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." [Orphanet:59135] +subset: gard_rare {source="GARD:10769"} subset: ordo_disease {source="Orphanet:59135"} synonym: "distal myopathy type 1" EXACT [Orphanet:59135] synonym: "Gowers disease" EXACT [Orphanet:59135] @@ -147883,6 +149141,7 @@ synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1, OMIM:160500] synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500] synonym: "myosin storage myopathy" RELATED [PMID:22918376, PMID:24664454] xref: DOID:0070197 {source="MONDO:equivalentTo"} +xref: GARD:10769 {source="Orphanet:59135"} xref: ICD10CM:G71.0 {source="Orphanet:59135", source="Orphanet:59135/attributed", source="Orphanet:59135/ntbt"} xref: OMIM:160500 {source="Orphanet:59135/e", source="MONDO:equivalentTo", source="Orphanet:59135"} xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"} @@ -147898,7 +149157,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008051 name: tubular aggregate myopathy def: "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." [https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy] -subset: gard_rare {source="GARD:0003884"} +subset: gard_rare {source="GARD:3884"} subset: ordo_disease {source="Orphanet:2593"} subset: prototype_pattern synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical, OMIM:160565] @@ -147906,6 +149165,7 @@ synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1, OMIM:160565] synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160565] synonym: "tubular aggregate myopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0080089 {source="MONDO:equivalentTo"} +xref: GARD:3884 {source="Orphanet:2593"} xref: ICD10CM:G71.2 {source="Orphanet:2593/attributed", source="Orphanet:2593/ntbt", source="Orphanet:2593"} xref: OMIMPS:160565 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:equivalentTo"} @@ -147938,7 +149198,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008054 name: juvenile dermatomyositis def: "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." [Orphanet:93672] -subset: gard_rare {source="GARD:0006805"} +subset: gard_rare {source="GARD:6805"} subset: ordo_disease {source="Orphanet:93672"} synonym: "childhood dermatomyositis" EXACT [DOID:14203, NCIT:C27576] synonym: "childhood type dermatomyositis" RELATED [DOID:14203] @@ -147954,6 +149214,7 @@ synonym: "myoseptumitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "myositis" RELATED [OMIM:160750] xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"} xref: EFO:0000557 {source="MONDO:equivalentTo"} +xref: GARD:6805 {source="Orphanet:93672"} xref: ICD10CM:M33.0 {source="Orphanet:93672", source="Orphanet:93672/e"} xref: MedDRA:10008521 {source="Orphanet:93672", source="Orphanet:93672/e"} xref: MESH:C000598745 {source="MONDO:equivalentObsolete"} @@ -147974,6 +149235,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6805/juvenil [Term] id: MONDO:0008055 name: myotonia congenita, autosomal dominant +subset: gard_rare {source="GARD:6176"} synonym: "congenital myotonia, autosomal dominant form" EXACT [DOID:2106] synonym: "myotonia congenita, autosomal dominant" EXACT [OMIM:160800] synonym: "myotonia congenita, dominant" EXACT [OMIM:160800, OMIM:genemap2] @@ -147982,6 +149244,7 @@ synonym: "Thomsen and Becker disease" BROAD [Orphanet:614] synonym: "Thomsen disease" EXACT [DOID:2106, OMIM:160800] synonym: "Thomsen's disease" EXACT [DOID:2106] xref: DOID:0081336 {source="MONDO:equivalentTo"} +xref: GARD:6176 {source="OMIM:160800"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:160800 {source="MONDO:equivalentTo"} xref: Orphanet:614 {source="OMIM:160800"} @@ -147998,6 +149261,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008056 name: myotonic dystrophy type 1 def: "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." [Orphanet:273] +subset: gard_rare {source="GARD:8310"} subset: ordo_disease {source="Orphanet:273"} synonym: "congenital myotonic dystrophy" RELATED EXCLUDE [DOID:11722] synonym: "DM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160900, Orphanet:273] @@ -148016,6 +149280,7 @@ synonym: "Steinert myotonic dystrophy syndrome" EXACT [NCIT:C84679] synonym: "Steinert syndrome" EXACT [NCIT:C84679] synonym: "Steinert's disease" RELATED [GARD:0008310] xref: DOID:11722 {source="MONDO:equivalentTo"} +xref: GARD:8310 {source="Orphanet:273"} xref: ICD10CM:G71.1 {source="Orphanet:273/inclusion", source="Orphanet:273/ntbt", source="Orphanet:273"} xref: ICD10CM:G71.11 {source="DOID:11722"} xref: ICD9:359.21 {source="DOID:11722"} @@ -148046,6 +149311,7 @@ property_value: confidence "12.055555555555554" xsd:double id: MONDO:0008057 name: Carney complex, type 1 def: "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15090"} synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "Carney complex, type 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:160980] synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980] @@ -148055,6 +149321,7 @@ synonym: "lamb syndrome" RELATED [OMIM:160980] synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980] synonym: "name syndrome" RELATED [OMIM:160980] synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15090 {source="OMIM:160980"} xref: OMIM:160980 {source="MONDO:equivalentTo"} xref: Orphanet:1359 {source="OMIM:160980"} xref: UMLS:C2607929 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:160980"} @@ -148069,10 +149336,11 @@ property_value: confidence "4.714285714285714" xsd:double id: MONDO:0008058 name: cylindrical spirals myopathy def: "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." [Orphanet:171886] -subset: gard_rare {source="GARD:0011906"} +subset: gard_rare {source="GARD:11906"} subset: ordo_disease {source="Orphanet:171886"} synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990] xref: DOID:0080103 {source="MONDO:equivalentTo"} +xref: GARD:11906 {source="Orphanet:171886"} xref: ICD10CM:G71.2 {source="Orphanet:171886/attributed", source="Orphanet:171886/ntbt", source="Orphanet:171886"} xref: MESH:C563535 {source="MONDO:equivalentTo"} xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"} @@ -148086,6 +149354,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11906/cylind id: MONDO:0008059 name: Naegeli-Franceschetti-Jadassohn syndrome def: "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." [Orphanet:69087] +subset: gard_rare {source="GARD:3912"} subset: ordo_disease {source="Orphanet:69087"} synonym: "NAEGELI syndrome" RELATED [OMIM:161000] synonym: "Naegeli syndrome" EXACT [Orphanet:69087] @@ -148096,6 +149365,7 @@ synonym: "Nfj syndrome" RELATED [OMIM:161000] synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912, OMIM:161000] synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912] xref: DOID:0111528 {source="MONDO:equivalentTo"} +xref: GARD:3912 {source="Orphanet:69087"} xref: ICD10CM:Q82.4 {source="Orphanet:69087", source="Orphanet:69087/attributed", source="Orphanet:69087/ntbt"} xref: MESH:C538331 {source="MONDO:equivalentTo"} xref: OMIM:161000 {source="MONDO:equivalentTo", source="Orphanet:69087", source="Orphanet:69087/e"} @@ -148112,6 +149382,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0008060 name: nonsyndromic congenital nail disorder 1 def: "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." [Orphanet:79153] +subset: gard_rare {source="GARD:10363"} subset: ordo_disease {source="Orphanet:79153", source="Orphanet:280654"} synonym: "autosomal dominant nail dysplasia" RELATED [Orphanet:79153] synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654] @@ -148138,6 +149409,7 @@ synonym: "twenty nail dystrophy" RELATED [GARD:0010363] synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:79153] xref: DOID:0080079 {source="MONDO:equivalentTo"} xref: DOID:0080088 {source="MONDO:equivalentObsolete"} +xref: GARD:10363 {source="Orphanet:79153"} xref: ICD10CM:L60.3 {source="Orphanet:79153", source="Orphanet:79153/attributed", source="Orphanet:79153/ntbt"} xref: ICD10CM:Q84.6 {source="Orphanet:280654/attributed", source="Orphanet:280654/ntbt", source="Orphanet:280654"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -148161,7 +149433,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008061 name: nail-patella syndrome def: "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." [Orphanet:2614] -subset: gard_rare {source="GARD:0007160"} +subset: gard_rare {source="GARD:7160"} subset: ordo_malformation_syndrome {source="Orphanet:2614"} synonym: "arthro-onychodysplasia" RELATED [GARD:0007160] synonym: "Fong disease" EXACT [DOID:9467] @@ -148178,6 +149450,7 @@ synonym: "osteo-onychodysplasia" EXACT [GARD:0007160] synonym: "Turner-Kieser syndrome" EXACT [OMIM:161200, Orphanet:2614] synonym: "Turner-Kiser syndrome" EXACT [DOID:9467] xref: DOID:9467 {source="MONDO:equivalentTo"} +xref: GARD:7160 {source="Orphanet:2614"} xref: ICD10CM:Q87.2 {source="Orphanet:2614/inclusion", source="Orphanet:2614", source="Orphanet:2614/ntbt", source="DOID:9467"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063431 {source="Orphanet:2614", source="Orphanet:2614/e"} @@ -148205,6 +149478,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7160/nail-pa id: MONDO:0008062 name: narcolepsy 1 def: "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." [NCIT:C84618] +subset: gard_rare {source="GARD:15091"} synonym: "cataplexy" RELATED [OMIM:161400] synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400] @@ -148212,6 +149486,7 @@ synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern] synonym: "narcolepsy type 1" EXACT [MONDORULE:1, OMIM:161400] synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400] synonym: "NRCLP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161400] +xref: GARD:15091 {source="OMIM:161400"} xref: MESH:C563534 {source="MONDO:equivalentTo"} xref: NCIT:C84618 {source="MONDO:equivalentTo"} xref: OMIM:161400 {source="MONDO:equivalentTo"} @@ -148264,11 +149539,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008067 name: nasopharyngeal carcinoma, susceptibility to, 2 +subset: gard_rare {source="GARD:15092"} subset: predisposition synonym: "nasopharyngeal carcinoma, susceptibility to, 2" EXACT [OMIM:161550] synonym: "nasopharyngeal carcinoma, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:161550] synonym: "NPCA2" RELATED ABBREVIATION [OMIM:161550] synonym: "Npca2" RELATED [OMIM:161550] +xref: GARD:15092 {source="OMIM:161550"} xref: OMIM:161550 {source="MONDO:equivalentTo"} xref: Orphanet:150 {source="OMIM:161550"} xref: UMLS:C2750548 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:161550"} @@ -148305,6 +149582,7 @@ property_value: confidence "1.3333333333333335" xsd:double id: MONDO:0008070 name: nemaline myopathy 3 def: "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129870] +subset: gard_rare {source="GARD:10111", source="GARD:16869"} subset: ordo_disease {source="Orphanet:98904"} synonym: "ACTA1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "actin myopathy" EXACT [Orphanet:98904] @@ -148318,6 +149596,8 @@ synonym: "nemaline myopathy 3, with intranuclear rods" RELATED [OMIM:161800] synonym: "nemaline myopathy caused by mutation in ACTA1" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 3" EXACT [DOID:0110927, MONDORULE:1, OMIM:161800] xref: DOID:0110927 {source="MONDO:equivalentTo"} +xref: GARD:10111 {source="OMIM:161800"} +xref: GARD:16869 {source="Orphanet:98904"} xref: ICD10CM:G71.2 {source="Orphanet:98904/attributed", source="Orphanet:98904/ntbt", source="Orphanet:98904"} xref: MESH:C579880 {source="MONDO:equivalentTo"} xref: MESH:C580202 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -148350,6 +149630,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008071 name: autosomal dominant progressive nephropathy with hypertension +subset: gard_rare {source="GARD:16772"} subset: ordo_disease {source="Orphanet:88659"} synonym: "nephritis, familial, without deafness or ocular defect" RELATED [OMIM:161900] synonym: "nephropathy, familial" RELATED [OMIM:161900] @@ -148357,6 +149638,7 @@ synonym: "nephropathy-hypertension" EXACT [OMIM:161900, OMIM:genemap2] synonym: "renal failure, adult-onset" RELATED [OMIM:161900] synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900] synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900] +xref: GARD:16772 {source="Orphanet:88659"} xref: ICD10CM:I15.1 {source="Orphanet:88659", source="Orphanet:88659/attributed", source="Orphanet:88659/ntbt"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562889 {source="MONDO:equivalentTo"} @@ -148392,7 +149674,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008073 name: familial juvenile hyperuricemic nephropathy type 1 def: "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." [Orphanet:209886] -subset: gard_rare +subset: gard_rare {source="GARD:10679"} subset: ordo_clinical_subtype {source="Orphanet:88950"} subset: ordo_disease {source="Orphanet:209886"} subset: prototype_pattern @@ -148428,6 +149710,7 @@ synonym: "UMOD-related kidney disease" EXACT [GARD:0006806] synonym: "uromodulin storage disease" EXACT [] synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806] xref: EFO:0008618 {source="MONDO:equivalentTo"} +xref: GARD:10679 {source="Orphanet:88950"} xref: ICD10CM:Q61.5 {source="Orphanet:88950", source="Orphanet:88950/attributed", source="Orphanet:88950/ntbt"} xref: MESH:C563693 {source="MONDO:equivalentTo"} xref: NCIT:C123172 {source="MONDO:equivalentTo"} @@ -148476,6 +149759,7 @@ is_obsolete: true id: MONDO:0008075 name: schwannomatosis def: "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." [https://orcid.org/0000-0001-5208-3432, Orphanet:93921] +subset: gard_rare {source="GARD:4768"} subset: ordo_disease {source="Orphanet:93921"} synonym: "congenital cutaneous neurilemmomatosis" RELATED [GARD:0004768] synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, Orphanet:93921, Wikipedia:Schwannomatosis] @@ -148488,6 +149772,7 @@ synonym: "NF3" EXACT ABBREVIATION [Orphanet:93921] synonym: "Schwannomatosis" EXACT [Orphanet:93921] synonym: "schwannomatosis" EXACT [MONDO:0002557] xref: DOID:3204 {source="MONDO:equivalentTo"} +xref: GARD:4768 {source="Orphanet:93921"} xref: ICD10CM:Q85.0 {source="Orphanet:93921/attributed", source="Orphanet:93921/ntbt", source="Orphanet:93921"} xref: ICD10CM:Q85.03 {source="DOID:3204"} xref: ICD9:237.73 {source="DOID:3204"} @@ -148512,6 +149797,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:162091"} ! inheri id: MONDO:0008076 name: amyotrophic neuralgia def: "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." [OMIM:162100] +subset: gard_rare {source="GARD:3955"} synonym: "amyotrophy, hereditary neuralgic" EXACT [MONDO:Lexical, OMIM:162100] synonym: "amyotrophy, hereditary neuralgic, with predilection for brachial plexus" EXACT [OMIM:162100] synonym: "brachial plexus neuropathy, hereditary" EXACT [OMIM:162100] @@ -148521,6 +149807,7 @@ synonym: "HNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162100] synonym: "neuralgic amyotrophy" RELATED [DOID:10383, ICD9CM:353.5] synonym: "neuritis with brachial predilection" EXACT [OMIM:162100] xref: DOID:10383 {source="MONDO:equivalentTo"} +xref: GARD:3955 {source="OMIM:162100"} xref: ICD10CM:G54.5 {source="DOID:10383"} xref: ICD9:353.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10383"} xref: MESH:D020968 {source="DOID:10383", source="MONDO:directSiblingOf"} @@ -148571,12 +149858,14 @@ is_a: MONDO:0003847 {source="MESH:C563522/inferred"} ! hereditary disease [Term] id: MONDO:0008080 name: neurofibromatosis, type III, mixed central and peripheral +subset: gard_rare {source="GARD:15094"} synonym: "neurofibromas, palmar cutaneous" RELATED [OMIM:162260] synonym: "neurofibromatosis, type III, mixed central and peripheral" EXACT [MONDO:Lexical, OMIM:162260] synonym: "neurofibromatosis, type III, of Riccardi" RELATED [OMIM:162260] synonym: "neurofibromatosis, type III, Riccardi type" RELATED [OMIM:162260] synonym: "Nf 3" RELATED [OMIM:162260] synonym: "NF3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162260] +xref: GARD:15094 {source="OMIM:162260"} xref: MESH:C537389 {source="MONDO:equivalentTo"} xref: OMIM:162260 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:162260"} @@ -148610,7 +149899,7 @@ relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:1 id: MONDO:0008082 name: multiple endocrine neoplasia type 2B def: "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus." [Orphanet:247709] -subset: gard_rare {source="GARD:0010225"} +subset: gard_rare {source="GARD:10225"} subset: ordo_clinical_subtype {source="Orphanet:247709"} synonym: "men 2B" EXACT [NCIT:C3227] synonym: "men IIB" EXACT [NCIT:C3227] @@ -148635,6 +149924,7 @@ synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300] synonym: "Neuromata, mucosal, with endocrine tumours" RELATED OMO:0003005 [] synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709] xref: DOID:10016 {source="MONDO:equivalentTo"} +xref: GARD:10225 {source="Orphanet:247709"} xref: ICD10CM:D44.8 {source="Orphanet:247709/attributed", source="Orphanet:247709/ntbt", source="Orphanet:247709"} xref: ICD10CM:E31.23 {source="DOID:10016"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -148663,6 +149953,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10225/multip id: MONDO:0008083 name: ceroid lipofuscinosis, neuronal, 4 (Kufs type) def: "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C128116] +subset: gard_rare {source="GARD:1222"} subset: ordo_etiological_subtype {source="Orphanet:228343"} synonym: "adult neuronal ceroid lipofuscinosis 4B" RELATED [GARD:0001222] synonym: "autosomal dominant Kufs disease" EXACT [NCIT:C128116] @@ -148682,6 +149973,7 @@ synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720] synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE:4] synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116] xref: DOID:0110720 {source="MONDO:equivalentTo"} +xref: GARD:1222 {source="Orphanet:228343"} xref: ICD10CM:E75.4 {source="DOID:0110720", source="Orphanet:228343/attributed", source="Orphanet:228343/ntbt", source="Orphanet:228343"} xref: NCIT:C128116 {source="MONDO:equivalentTo"} xref: OMIM:162350 {source="DOID:0110720", source="Orphanet:228343/e", source="MONDO:equivalentTo", source="Orphanet:228343"} @@ -148697,7 +149989,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008084 name: neuropathy, congenital, with arthrogryposis multiplex -subset: gard_rare {source="GARD:0010086"} synonym: "congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" RELATED [GARD:0010086] synonym: "neuropathy, congenital, with arthrogryposis multiplex" EXACT [OMIM:162370] xref: MESH:C535714 {source="MONDO:equivalentTo"} @@ -148722,6 +150013,7 @@ id: MONDO:0008086 name: neuropathy, hereditary sensory and autonomic, type 1A def: "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." [https://www.ncbi.nlm.nih.gov/books/NBK1390] comment: Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). +subset: gard_rare {source="GARD:15095"} synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [DOID:0070152] synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [DOID:0070152] @@ -148733,6 +150025,7 @@ synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" synonym: "neuropathy, hereditary sensory, type 1A" RELATED [OMIM:162400] synonym: "SPTLC1 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070152 {source="MONDO:equivalentTo"} +xref: GARD:15095 {source="OMIM:162400"} xref: OMIM:162400 {source="DOID:0070152", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:162400"} xref: UMLS:C0020071 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:162400"} @@ -148747,6 +150040,7 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0008087 name: hereditary neuropathy with liability to pressure palsies def: "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." [Orphanet:640] +subset: gard_rare {source="GARD:5221"} subset: ordo_malformation_syndrome {source="Orphanet:640"} synonym: "current pressure-sensitive neuropathy" EXACT [DOID:0060843, Orphanet:640] synonym: "familial recurrent polyneuropathy" EXACT [DOID:0060843] @@ -148764,6 +150058,7 @@ synonym: "tomaculous neuropathy" EXACT [DOID:0060843] synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640] xref: DECIPHER:31 {source="MONDO:equivalentTo"} xref: DOID:0060843 {source="MONDO:equivalentTo"} +xref: GARD:5221 {source="Orphanet:640"} xref: ICD10CM:G60.0 {source="Orphanet:640/attributed", source="Orphanet:640/ntbt", source="DOID:0060843", source="Orphanet:640"} xref: MedDRA:10069382 {source="Orphanet:640/e", source="Orphanet:640"} xref: MESH:C536965 {source="MONDO:equivalentTo"} @@ -148792,7 +150087,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008089 name: neutropenia, chronic familial -subset: gard_rare {source="GARD:0003983"} synonym: "chronic familial neutropenia" RELATED [GARD:0003983] synonym: "leukopenia benign familial" RELATED [GARD:0003983] synonym: "leukopenia, benign familial" RELATED [OMIM:162700] @@ -148811,6 +150105,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3983/neutrop id: MONDO:0008090 name: cyclic hematopoiesis def: "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." [NCIT:P378] +subset: gard_rare {source="GARD:6229"} subset: ordo_disease {source="Orphanet:2686"} synonym: "CH" EXACT ABBREVIATION [NCIT:C3820] synonym: "CN" EXACT ABBREVIATION [NCIT:C3820] @@ -148824,6 +150119,7 @@ synonym: "neutropenia, cyclic" EXACT [OMIM:162800, OMIM:genemap2] synonym: "neutropenia, periodic" EXACT [DOID:5339] synonym: "periodic neutropenia" EXACT [NCIT:C3820] xref: DOID:5339 {source="MONDO:equivalentTo"} +xref: GARD:6229 {source="Orphanet:2686"} xref: ICD10CM:D70 {source="Orphanet:2686/inclusion", source="Orphanet:2686/ntbt", source="Orphanet:2686"} xref: ICD10CM:D70.4 {source="DOID:5339"} xref: ICD9:288.02 {source="DOID:5339", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -148862,9 +150158,11 @@ consider: MONDO:0018037 id: MONDO:0008092 name: hereditary neutrophilia def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." [DOID:0090120] +subset: gard_rare {source="GARD:17287"} subset: ordo_disease {source="Orphanet:279943"} synonym: "neutrophilia, hereditary" RELATED [OMIM:162830] xref: DOID:0090120 {source="MONDO:equivalentTo"} +xref: GARD:17287 {source="Orphanet:279943"} xref: ICD10CM:D72.8 {source="DOID:0090120", source="Orphanet:279943", source="Orphanet:279943/attributed", source="Orphanet:279943/ntbt"} xref: MESH:C563010 {source="MONDO:equivalentTo"} xref: OMIM:162830 {source="DOID:0090120", source="MONDO:equivalentTo", source="Orphanet:279943", source="Orphanet:279943/e"} @@ -148910,6 +150208,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008094 name: familial multiple nevi flammei def: "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." [NCIT:C3840] +subset: gard_rare {source="GARD:3986"} subset: ordo_morphological_anomaly {source="Orphanet:624"} synonym: "capillary malformations" RELATED [OMIM:163000] synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical, OMIM:163000] @@ -148929,6 +150228,7 @@ synonym: "port-wine stain familial multiple" RELATED [GARD:0003986] synonym: "port-wine stain of skin" EXACT [NCIT:C3840] synonym: "Salmon patch Nevus" EXACT [NCIT:C3840] xref: DOID:0111529 {source="MONDO:equivalentTo"} +xref: GARD:3986 {source="Orphanet:624"} xref: ICD10CM:Q82.5 {source="Orphanet:624/inclusion", source="Orphanet:624/ntbt", source="Orphanet:624"} xref: MedDRA:10067193 {source="Orphanet:624", source="Orphanet:624/e"} xref: MESH:D019339 {source="Orphanet:624", source="Orphanet:624/e"} @@ -148982,7 +150282,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008097 name: linear nevus sebaceous syndrome def: "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." [Orphanet:2612] -subset: gard_rare +subset: gard_rare {source="GARD:10291"} subset: ordo_disease {source="Orphanet:2612"} synonym: "epidermal nevus syndrome" RELATED [OMIM:163200] synonym: "Epidermal Nevus syndrome, formerly" RELATED [OMIM:163200] @@ -149009,6 +150309,7 @@ synonym: "SFM syndrome" RELATED [GARD:0010291] synonym: "Sfm syndrome" RELATED [OMIM:163200] synonym: "Solomon syndrome" EXACT [Orphanet:2612] xref: DOID:0111530 {source="MONDO:equivalentTo"} +xref: GARD:10291 {source="Orphanet:2612"} xref: ICD10CM:Q85.8 {source="Orphanet:2612", source="Orphanet:2612/attributed", source="Orphanet:2612/ntbt"} xref: NCIT:C4678 {source="MONDO:equivalentTo"} xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="Orphanet:2612/e", source="GARD:0010291"} @@ -149030,11 +150331,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10291/linear [Term] id: MONDO:0008098 name: mesomelic dwarfism, Nievergelt type +subset: gard_rare {source="GARD:3554"} subset: ordo_malformation_syndrome {source="Orphanet:2633"} synonym: "mesomelic dwarfism Nievergelt type" RELATED [GARD:0003554] synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400] synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633] synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554] +xref: GARD:3554 {source="Orphanet:2633"} xref: ICD10CM:Q78.8 {source="Orphanet:2633", source="Orphanet:2633/attributed", source="Orphanet:2633/ntbt"} xref: MESH:C536120 {source="MONDO:equivalentTo"} xref: OMIM:163400 {source="MONDO:equivalentTo", source="Orphanet:2633", source="Orphanet:2633/e"} @@ -149053,6 +150356,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008099 name: congenital stationary night blindness autosomal dominant 2 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15096"} synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [DOID:0110863, MONDORULE:1] synonym: "congenital stationary night blindness caused by mutation in PDE6B" EXACT [MONDO:design_pattern] synonym: "CSNBAD2" EXACT ABBREVIATION [DOID:0110863, MONDO:Lexical, OMIM:163500] @@ -149062,6 +150366,7 @@ synonym: "night blindness, congenital stationary, Rambusch type" RELATED [OMIM:1 synonym: "PDE6B congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Rambusch type congenital stationary night blindness" EXACT [DOID:0110863] xref: DOID:0110863 {source="MONDO:equivalentTo"} +xref: GARD:15096 {source="OMIM:163500"} xref: MESH:C566869 {source="MONDO:equivalentTo"} xref: OMIM:163500 {source="DOID:0110863", source="MONDO:equivalentTo"} xref: Orphanet:215 {source="OMIM:163500"} @@ -149086,12 +150391,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008101 name: familial supernumerary nipples def: "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." [Orphanet:2456] +subset: gard_rare {source="GARD:2259"} subset: ordo_morphological_anomaly {source="Orphanet:2456"} synonym: "accessory nipples" RELATED [OMIM:163700] synonym: "isolated polythelia" EXACT [Orphanet:2456] synonym: "nipples, supernumerary" RELATED [OMIM:163700] synonym: "polymastia" RELATED [OMIM:163700] synonym: "polythelia, familial" RELATED [OMIM:163700] +xref: GARD:2259 {source="Orphanet:2456"} xref: ICD10CM:Q83.3 {source="Orphanet:2456/ntbt", source="Orphanet:2456"} xref: OMIM:163700 {source="Orphanet:2456", source="MONDO:equivalentTo", source="Orphanet:2456/e"} xref: Orphanet:2456 {source="OMIM:163700", source="MONDO:equivalentTo"} @@ -149105,6 +150412,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0008102 name: sick sinus syndrome 2, autosomal dominant def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18284"} synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [OMIM:163800] synonym: "HCN4 sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sick sinus syndrome 2" RELATED [OMIM:163800] @@ -149115,6 +150423,7 @@ synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [OMI synonym: "sinus node disease, familial, autosomal dominant" RELATED [OMIM:163800] synonym: "Sss, autosomal dominant" RELATED [OMIM:163800] synonym: "SSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163800] +xref: GARD:18284 {source="OMIM:163800"} xref: MESH:C563513 {source="MONDO:equivalentTo"} xref: OMIM:163800 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="OMIM:163800"} @@ -149138,6 +150447,7 @@ is_a: MONDO:0003847 {source="MESH:C563512/inferred"} ! hereditary disease id: MONDO:0008104 name: Noonan syndrome 1 def: "Noonan syndrome caused by mutations in the PTPN11 gene." [NCIT:C75459] +subset: gard_rare {source="GARD:7223"} synonym: "female pseudo-Turner syndrome" RELATED [OMIM:163950] synonym: "Male Turner syndrome" RELATED [OMIM:163950] synonym: "Noonan syndrome" RELATED [OMIM:163950] @@ -149147,6 +150457,7 @@ synonym: "NS1" EXACT ABBREVIATION [DOID:0060578, MONDO:Lexical, OMIM:163950] synonym: "pterygium colli syndrome" RELATED [OMIM:163950] synonym: "Turner phenotype with normal karyotype" RELATED [OMIM:163950] xref: DOID:0060578 {source="MONDO:equivalentTo"} +xref: GARD:7223 {source="OMIM:163950"} xref: NCIT:C75459 {source="MONDO:equivalentTo"} xref: OMIM:163950 {source="DOID:0060578", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:163950"} @@ -149189,7 +150500,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008107 name: nystagmus, hereditary vertical -subset: gard_rare {source="GARD:0009604"} synonym: "congenital hereditary vertical nystagmus" RELATED [GARD:0009604] synonym: "hereditary vertical nystagmus" RELATED [GARD:0009604] synonym: "nystagmus, hereditary vertical" EXACT [OMIM:164150] @@ -149205,7 +150515,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9604/nystagm id: MONDO:0008108 name: oculocerebrocutaneous syndrome def: "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." [Orphanet:1647] -subset: gard_rare +subset: gard_rare {source="GARD:106"} subset: ordo_malformation_syndrome {source="Orphanet:1647"} synonym: "Delleman Oorthuys syndrome" RELATED [GARD:0000106] synonym: "Delleman syndrome" EXACT [Orphanet:1647] @@ -149216,6 +150526,7 @@ synonym: "OCCS" EXACT ABBREVIATION [GARD:0000106, OMIM:164180, Orphanet:1647] synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106] synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180] synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647] +xref: GARD:106 {source="Orphanet:1647"} xref: ICD10CM:Q87.8 {source="Orphanet:1647/attributed", source="Orphanet:1647/ntbt", source="Orphanet:1647"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538088 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="Orphanet:1647"} @@ -149234,7 +150545,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/106/oculocer id: MONDO:0008109 name: ocular cicatricial pemphigoid def: "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." [https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid] -subset: gard_rare {source="GARD:0008759"} synonym: "cicatricial pemphigoid, ocular" RELATED [GARD:0008759] synonym: "OCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164185] synonym: "ocular cicatricial pemphigoid" EXACT [MONDO:Lexical, OMIM:164185] @@ -149263,7 +150573,7 @@ is_obsolete: true id: MONDO:0008111 name: oculodentodigital dysplasia def: "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." [Orphanet:2710] -subset: gard_rare {source="GARD:0007239"} +subset: gard_rare {source="GARD:7239"} subset: ordo_malformation_syndrome {source="Orphanet:2710"} synonym: "Meyer-Schwickerath syndrome" EXACT [Orphanet:2710] synonym: "oculo-dento-digital dysplasia" RELATED [GARD:0007239] @@ -149275,6 +150585,7 @@ synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200] synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164200] synonym: "ODDD syndrome" EXACT [Orphanet:2710] xref: DOID:0060291 {source="MONDO:equivalentTo"} +xref: GARD:7239 {source="Orphanet:2710"} xref: ICD10CM:Q87.8 {source="Orphanet:2710", source="Orphanet:2710/attributed", source="Orphanet:2710/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063691 {source="Orphanet:2710", source="Orphanet:2710/e"} @@ -149310,7 +150621,7 @@ replaced_by: MONDO:0015397 id: MONDO:0008113 name: Schilbach-Rott syndrome def: "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." [Orphanet:2353] -subset: gard_rare +subset: gard_rare {source="GARD:2930"} subset: ordo_malformation_syndrome {source="Orphanet:2353"} synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930, OMIM:164220] synonym: "BRSS" EXACT ABBREVIATION [Orphanet:2353] @@ -149319,6 +150630,7 @@ synonym: "hypotelorism cleft palate hypospadias" RELATED [GARD:0002930] synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353] synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220] synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220] +xref: GARD:2930 {source="Orphanet:2353"} xref: ICD10CM:Q87.8 {source="Orphanet:2353", source="Orphanet:2353/attributed", source="Orphanet:2353/ntbt"} xref: MESH:C563509 {source="MONDO:equivalentTo"} xref: OMIM:164220 {source="Orphanet:2353", source="MONDO:equivalentTo", source="Orphanet:2353/e"} @@ -149364,6 +150676,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008115 name: Feingold syndrome type 1 def: "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." [Orphanet:391641] +subset: gard_rare {source="GARD:17624"} subset: ordo_clinical_subtype {source="Orphanet:391641"} synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280] @@ -149391,6 +150704,7 @@ synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:3916 synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] synonym: "Oded syndrome" RELATED [OMIM:164280] synonym: "ODED syndrome type 1" EXACT [Orphanet:391641] +xref: GARD:17624 {source="Orphanet:391641"} xref: ICD10CM:Q87.8 {source="Orphanet:391641/attributed", source="Orphanet:391641/ntbt", source="Orphanet:391641"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:164280 {source="Orphanet:391641/e", source="MONDO:equivalentTo", source="Orphanet:391641"} @@ -149411,12 +150725,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008116 name: oculopharyngeal muscular dystrophy def: "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." [Orphanet:270] -subset: gard_rare {source="GARD:0007245"} +subset: gard_rare {source="GARD:7245"} subset: ordo_disease {source="Orphanet:270"} synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719, OMIM:164300] synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300] synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270] xref: DOID:11719 {source="MONDO:equivalentTo"} +xref: GARD:7245 {source="Orphanet:270"} xref: ICD10CM:G71.0 {source="Orphanet:270/inclusion", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/ntbt"} xref: MedDRA:10052181 {source="Orphanet:270", source="Orphanet:270/e"} xref: MESH:D039141 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} @@ -149445,11 +150760,13 @@ replaced_by: MONDO:0020793 id: MONDO:0008118 name: odontomatosis-aortae esophagus stenosis syndrome def: "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." [Orphanet:2724] +subset: gard_rare {source="GARD:238"} subset: ordo_malformation_syndrome {source="Orphanet:2724"} synonym: "boder syndrome" EXACT [Orphanet:2724] synonym: "odontoma dysphagia syndrome" RELATED [GARD:0000238] synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330] synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238] +xref: GARD:238 {source="Orphanet:2724"} xref: MESH:C537740 {source="MONDO:equivalentTo"} xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="Orphanet:2724/e"} xref: Orphanet:2724 {source="MONDO:equivalentTo", source="OMIM:164330"} @@ -149463,6 +150780,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008119 name: spinocerebellar ataxia type 1 def: "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." [Orphanet:98755] +subset: gard_rare {source="GARD:4071"} subset: ordo_disease {source="Orphanet:98755"} synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern] @@ -149480,6 +150798,7 @@ synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical, OMIM:164400] synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400] synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400] xref: DOID:0050954 {source="MONDO:equivalentTo"} +xref: GARD:4071 {source="Orphanet:98755"} xref: ICD10CM:G11.8 {source="Orphanet:98755/attributed", source="Orphanet:98755/ntbt", source="Orphanet:98755"} xref: NCIT:C129982 {source="MONDO:equivalentTo"} xref: OMIM:164400 {source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954", source="Orphanet:98755/e"} @@ -149523,11 +150842,13 @@ replaced_by: MONDO:0011781 id: MONDO:0008123 name: autosomal dominant omodysplasia def: "Autosomal dominant form of omodysplasia." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:3643"} subset: ordo_clinical_subtype {source="Orphanet:93328"} synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745] xref: DOID:0080845 {source="MONDO:equivalentTo"} +xref: GARD:3643 {source="Orphanet:93328"} xref: ICD10CM:Q78.8 {source="Orphanet:93328", source="Orphanet:93328/attributed", source="Orphanet:93328/ntbt"} xref: MESH:C567664 {source="MONDO:equivalentTo"} xref: OMIM:164745 {source="Orphanet:93328/e", source="MONDO:equivalentTo", source="Orphanet:93328"} @@ -149544,12 +150865,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008124 name: omphalocele, autosomal +subset: gard_rare {source="GARD:18586"} synonym: "chromosome 1P31 Duplication syndrome" RELATED [OMIM:164750] synonym: "omphalocele due to duplication of 1p31.3, isolated cases" EXACT [OMIM:164750, OMIM:genemap2] synonym: "omphalocele, autosomal" EXACT [OMIM:164750] synonym: "paraomphalocele" RELATED [GARD:0004218] synonym: "type - epigastric - defect in the cephalic fold" RELATED [GARD:0004218] synonym: "type - hypogastric - defect in the caudal fold" RELATED [GARD:0004218] +xref: GARD:18586 {source="OMIM:164750"} xref: OMIM:164750 {source="MONDO:equivalentTo"} xref: Orphanet:660 {source="OMIM:164750"} xref: UMLS:C0795690 {source="MONDO:ncbi_mim2gene_medline"} @@ -149590,11 +150913,13 @@ is_obsolete: true id: MONDO:0008127 name: ophthalmomandibulomelic dysplasia def: "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." [Orphanet:2741] +subset: gard_rare {source="GARD:4365"} subset: ordo_malformation_syndrome {source="Orphanet:2741"} synonym: "OMM syndrome" EXACT [OMIM:164900, Orphanet:2741] synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365] synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900] synonym: "Pillay syndrome" EXACT [Orphanet:2741] +xref: GARD:4365 {source="Orphanet:2741"} xref: ICD10CM:Q87.8 {source="Orphanet:2741/attributed", source="Orphanet:2741/ntbt", source="Orphanet:2741"} xref: MESH:C563501 {source="MONDO:equivalentTo"} xref: OMIM:164900 {source="Orphanet:2741", source="MONDO:equivalentTo", source="Orphanet:2741/e"} @@ -149627,12 +150952,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008130 name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -subset: gard_rare +subset: gard_rare {source="GARD:3236"} subset: ordo_malformation_syndrome {source="Orphanet:2743"} synonym: "Levic Stefanovic Nikolic syndrome" RELATED [GARD:0003236] synonym: "Levic-Stefanovic-Nikolic syndrome" EXACT [Orphanet:2743] synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [OMIM:165150] synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236] +xref: GARD:3236 {source="Orphanet:2743"} xref: MESH:C563498 {source="MONDO:equivalentTo"} xref: OMIM:165150 {source="GARD:0003236", source="MONDO:equivalentTo", source="Orphanet:2743", source="Orphanet:2743/e"} xref: Orphanet:2743 {source="GARD:0003236", source="OMIM:165150", source="MONDO:equivalentTo"} @@ -149646,7 +150972,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3236/levic-s [Term] id: MONDO:0008131 name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant +subset: gard_rare {source="GARD:402"} synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" EXACT [OMIM:165199] +xref: GARD:402 {source="OMIM:165199"} xref: MESH:C563497 {source="MONDO:equivalentTo"} xref: OMIM:165199 {source="MONDO:equivalentTo"} xref: Orphanet:1215 {source="OMIM:165199"} @@ -149658,8 +150986,10 @@ property_value: confidence "0.13906249999999987" xsd:double [Term] id: MONDO:0008132 name: optic atrophy with demyelinating disease of CNS +subset: gard_rare {source="GARD:15098"} synonym: "optic atrophy with demyelinating disease of CNS" EXACT [OMIM:165200] xref: DOID:0111756 {source="MONDO:equivalentTo"} +xref: GARD:15098 {source="OMIM:165200"} xref: MESH:C563496 {source="MONDO:equivalentTo"} xref: OMIM:165200 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="OMIM:165200"} @@ -149670,7 +151000,7 @@ property_value: confidence "29.33333333333344" xsd:double [Term] id: MONDO:0008133 name: optic atrophy 3 -subset: gard_rare {source="GARD:0010203"} +subset: gard_rare {source="GARD:10203"} subset: ordo_disease {source="Orphanet:67036"} synonym: "autosomal dominant optic atrophy type 3" EXACT [Orphanet:67036] synonym: "OPA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165300] @@ -149681,6 +151011,7 @@ synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:1653 synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300] synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203] xref: DOID:0111433 {source="MONDO:equivalentTo"} +xref: GARD:10203 {source="Orphanet:67036"} xref: ICD10CM:H47.2 {source="Orphanet:67036/attributed", source="Orphanet:67036/ntbt", source="Orphanet:67036"} xref: MESH:C537128 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} xref: OMIM:165300 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} @@ -149701,6 +151032,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10203/autoso id: MONDO:0008134 name: autosomal dominant optic atrophy, classic form def: "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects." [Orphanet:98673] +subset: gard_rare {source="GARD:9890", source="GARD:15099"} subset: ordo_disease {source="Orphanet:98673"} synonym: "autosomal dominant optic atrophy, Kjer type" EXACT [Orphanet:98673] synonym: "Kjer optic atrophy" EXACT [Orphanet:98673] @@ -149712,6 +151044,8 @@ synonym: "optic atrophy type 1" EXACT [MONDORULE:1, OMIM:165500, Orphanet:98673] synonym: "optic atrophy, juvenile" RELATED [OMIM:165500] synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500] xref: DOID:0111441 {source="MONDO:equivalentTo"} +xref: GARD:15099 {source="OMIM:165500"} +xref: GARD:9890 {source="Orphanet:98673"} xref: ICD10CM:H47.2 {source="Orphanet:98673/attributed", source="Orphanet:98673/ntbt", source="Orphanet:98673"} xref: OMIM:165500 {source="Orphanet:98673/e", source="MONDO:equivalentTo", source="Orphanet:98673"} xref: Orphanet:98673 {source="MONDO:equivalentTo", source="OMIM:165500"} @@ -149739,6 +151073,7 @@ is_a: MONDO:0043878 {source="OMIM:165510"} ! hereditary optic atrophy [Term] id: MONDO:0008136 name: isolated optic nerve hypoplasia +subset: gard_rare {source="GARD:8419"} subset: ordo_disease {source="Orphanet:137902"} synonym: "familial bilateral optic nerve hypoplasia" RELATED [GARD:0008419] synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [Orphanet:137902] @@ -149747,6 +151082,7 @@ synonym: "optic nerve hypoplasia" RELATED [OMIM:165550, OMIM:genemap2] synonym: "optic nerve hypoplasia, bilateral" RELATED [OMIM:165550] synonym: "optic nerve hypoplasia, familial bilateral" RELATED [GARD:0008419] xref: DOID:0111531 {source="MONDO:equivalentTo"} +xref: GARD:8419 {source="Orphanet:137902"} xref: ICD10CM:H47.0 {source="Orphanet:137902", source="Orphanet:137902/attributed", source="Orphanet:137902/ntbt"} xref: OMIM:165550 {source="MONDO:equivalentTo", source="Orphanet:137902", source="Orphanet:137902/e"} xref: Orphanet:137902 {source="MONDO:equivalentTo", source="OMIM:165550"} @@ -149765,7 +151101,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008137 name: orofaciodigital syndrome X def: "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." [Orphanet:2756] -subset: gard_rare {source="GARD:0004061"} +subset: gard_rare {source="GARD:4061"} subset: ordo_malformation_syndrome {source="Orphanet:2756"} synonym: "Figuera syndrome" EXACT [Orphanet:2756] synonym: "OFD syndrome 10" RELATED [GARD:0004061] @@ -149784,6 +151120,7 @@ synonym: "orofaciodigital syndrome type X" EXACT [DOID:0060380, MONDORULE:1] synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590, Orphanet:2756] synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590] xref: DOID:0060380 {source="MONDO:equivalentTo"} +xref: GARD:4061 {source="Orphanet:2756"} xref: ICD10CM:Q87.0 {source="Orphanet:2756", source="Orphanet:2756/attributed", source="Orphanet:2756/ntbt", source="DOID:0060380"} xref: MESH:C563491 {source="MONDO:equivalentTo", source="DOID:0060380"} xref: OMIM:165590 {source="MONDO:equivalentTo", source="Orphanet:2756", source="DOID:0060380", source="Orphanet:2756/e"} @@ -149801,9 +151138,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4061/orofaci id: MONDO:0008138 name: syndromic orbital border hypoplasia def: "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." [Orphanet:98606] +subset: gard_rare {source="GARD:16858"} subset: ordo_malformation_syndrome {source="Orphanet:98606"} synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600] synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606] +xref: GARD:16858 {source="Orphanet:98606"} xref: MESH:C563490 {source="MONDO:equivalentTo"} xref: OMIM:165600 {source="MONDO:equivalentTo", source="Orphanet:98606", source="Orphanet:98606/e"} xref: Orphanet:98606 {source="MONDO:equivalentTo", source="OMIM:165600"} @@ -149818,6 +151157,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008139 name: OSLAM syndrome def: "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia." [Orphanet:2760] +subset: gard_rare {source="GARD:4129"} subset: ordo_malformation_syndrome {source="Orphanet:2760"} synonym: "OSLAM syndrome" EXACT [OMIM:165660] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" RELATED OMO:0003005 [] @@ -149825,6 +151165,7 @@ synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660] synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660] synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760] +xref: GARD:4129 {source="Orphanet:2760"} xref: ICD10CM:C41.9 {source="Orphanet:2760", source="Orphanet:2760/attributed", source="Orphanet:2760/ntbt"} xref: MESH:C537138 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} xref: OMIM:165660 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} @@ -149849,7 +151190,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008141 name: ossicular malformations, familial -subset: gard_rare {source="GARD:0008184"} synonym: "familial middle ear ossicular anomalies" RELATED [GARD:0008184] synonym: "familial ossicular malformations" RELATED [GARD:0008184] synonym: "ossicular malformations, familial" EXACT [OMIM:165680] @@ -149863,6 +151203,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8184/ossicul id: MONDO:0008142 name: Thiemann disease, familial form def: "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." [Orphanet:3314] +subset: gard_rare {source="GARD:4131"} subset: ordo_disease {source="Orphanet:3314"} synonym: "aseptic necrosis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "osteoarthropathy of fingers familial" RELATED [GARD:0004131] @@ -149872,6 +151213,7 @@ synonym: "Osteochondrosis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "THIEMANN disease" RELATED [OMIM:165700] synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700] synonym: "Thiemann's disease" RELATED [GARD:0004131] +xref: GARD:4131 {source="Orphanet:3314"} xref: ICD10CM:M93.2 {source="Orphanet:3314/attributed", source="Orphanet:3314/ntbt", source="Orphanet:3314"} xref: ICD9:716.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537144 {source="MONDO:equivalentTo"} @@ -149919,7 +151261,7 @@ replaced_by: MONDO:0017178 id: MONDO:0008145 name: Ollier disease def: "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." [Orphanet:296] -subset: gard_rare {source="GARD:0007251"} +subset: gard_rare {source="GARD:7251"} subset: ordo_disease {source="Orphanet:296"} synonym: "dyschondroplasia" EXACT [DOID:4624, OMIM:166000, Orphanet:296] synonym: "enchondromatosis" RELATED [GARD:0007251] @@ -149934,6 +151276,7 @@ synonym: "Ollier type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302- synonym: "Ollier's disease" EXACT [NCIT:C3008] synonym: "osteochondromatosis" EXACT [DOID:4624] xref: DOID:4624 {source="MONDO:equivalentTo"} +xref: GARD:7251 {source="Orphanet:296"} xref: ICD10CM:Q78.4 {source="Orphanet:296/e", source="Orphanet:296/specific", source="DOID:4624", source="Orphanet:296"} xref: MedDRA:10014642 {source="Orphanet:296/e", source="Orphanet:296"} xref: MESH:D004687 {source="Orphanet:296/e", source="DOID:4624", source="Orphanet:296"} @@ -149969,6 +151312,7 @@ id: MONDO:0008146 name: osteogenesis imperfecta type 1 def: "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." [Orphanet:216796] comment: Editor note: we follow ordo and place van der hoeve as exact synonym +subset: gard_rare {source="GARD:8694"} subset: ordo_clinical_subtype {source="Orphanet:216796"} synonym: "Adair-Dighton syndrome" EXACT [Orphanet:216796] synonym: "classic non-deforming OI with blue sclerae" RELATED [GARD:0008694] @@ -149985,6 +151329,7 @@ synonym: "osteogenesis imperfecta, type 1" RELATED [OMIM:166200] synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200] synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796] xref: DOID:0110334 {source="MONDO:equivalentTo"} +xref: GARD:8694 {source="Orphanet:216796"} xref: ICD10CM:Q78.0 {source="Orphanet:216796/attributed", source="Orphanet:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"} xref: NCIT:C99003 {source="MONDO:equivalentTo"} xref: OMIM:166200 {source="Orphanet:216796/e", source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796"} @@ -150003,6 +151348,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008147 name: osteogenesis imperfecta type 2 def: "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." [Orphanet:216804] +subset: gard_rare {source="GARD:10142"} subset: ordo_clinical_subtype {source="Orphanet:216804"} synonym: "lethal osteogenesis imperfecta" EXACT [Orphanet:216804] synonym: "OI type 2" EXACT [Orphanet:216804] @@ -150019,6 +151365,7 @@ synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [DOID:011034 synonym: "Perinatally lethal OI" RELATED [GARD:0010142] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210] xref: DOID:0110341 {source="MONDO:equivalentTo"} +xref: GARD:10142 {source="Orphanet:216804"} xref: ICD10CM:Q78.0 {source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/attributed", source="Orphanet:216804/ntbt"} xref: MESH:C536042 {source="MONDO:equivalentTo"} xref: NCIT:C99001 {source="MONDO:equivalentTo"} @@ -150037,6 +151384,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008148 name: osteogenesis imperfecta type 4 def: "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216820] +subset: gard_rare {source="GARD:8696"} subset: ordo_clinical_subtype {source="Orphanet:216820"} synonym: "common variable OI with normal sclerae" RELATED [GARD:0008696] synonym: "OI type 4" EXACT [Orphanet:216820] @@ -150049,6 +151397,7 @@ synonym: "osteogenesis imperfecta with normal sclerae" RELATED [OMIM:166220] synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220] synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220] xref: DOID:0110340 {source="MONDO:equivalentTo"} +xref: GARD:8696 {source="Orphanet:216820"} xref: ICD10CM:Q78.0 {source="Orphanet:216820", source="Orphanet:216820/attributed", source="Orphanet:216820/ntbt", source="DOID:0110340"} xref: MESH:C536045 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e"} xref: NCIT:C98576 {source="MONDO:equivalentTo"} @@ -150065,8 +151414,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008149 name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures def: "An osteogenesis imperfecta found in a single South African family." [DOID:0110335, PMID:7241530] +subset: gard_rare {source="GARD:15100"} synonym: "osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures" RELATED [OMIM:166230] xref: DOID:0110335 {source="MONDO:equivalentTo"} +xref: GARD:15100 {source="OMIM:166230"} xref: ICD10CM:Q78.0 {source="DOID:0110335"} xref: MESH:C563487 {source="MONDO:equivalentTo"} xref: OMIM:166230 {source="DOID:0110335", source="MONDO:equivalentTo"} @@ -150079,6 +151430,7 @@ property_value: confidence "1.2566407969820799" xsd:double id: MONDO:0008150 name: osteoglophonic dwarfism def: "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." [Orphanet:2645] +subset: gard_rare {source="GARD:4142"} subset: ordo_malformation_syndrome {source="Orphanet:2645"} synonym: "Fairbank-Keats syndrome" RELATED [GARD:0004142] synonym: "OGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166250] @@ -150086,6 +151438,7 @@ synonym: "osteoglophonic dwarfism" EXACT CLINGEN_PREFERRED [OMIM:166250] synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250] synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645] xref: DOID:0111532 {source="MONDO:equivalentTo"} +xref: GARD:4142 {source="Orphanet:2645"} xref: ICD10CM:Q87.1 {source="Orphanet:2645", source="Orphanet:2645/attributed", source="Orphanet:2645/ntbt"} xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} @@ -150103,6 +151456,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008151 name: gnathodiaphyseal dysplasia def: "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." [Orphanet:53697] +subset: gard_rare {source="GARD:8698"} subset: ordo_malformation_syndrome {source="Orphanet:53697"} synonym: "GDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166260, Orphanet:53697] synonym: "GNATHODIAPHYSEAL dysplasia" RELATED [OMIM:166260] @@ -150112,6 +151466,7 @@ synonym: "Levin syndrome 2" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260] xref: DOID:0111533 {source="MONDO:equivalentTo"} +xref: GARD:8698 {source="Orphanet:53697"} xref: MESH:C536039 {source="MONDO:equivalentTo"} xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="Orphanet:53697/e"} xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"} @@ -150130,7 +151485,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008152 name: multicentric carpo-tarsal osteolysis with or without nephropathy def: "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." [Orphanet:2774] -subset: gard_rare +subset: gard_rare {source="GARD:3818"} subset: ordo_malformation_syndrome {source="Orphanet:2774"} synonym: "Carnevale canun Mendoza syndrome" RELATED [GARD:0003818] synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [GARD:0003818, Orphanet:2774] @@ -150141,6 +151496,7 @@ synonym: "multicentric osteolysis nephropathy" RELATED [GARD:0003818] synonym: "multicentric osteolysis, autosomal dominant" RELATED [OMIM:166300] synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [OMIM:166300] xref: DOID:0111534 {source="MONDO:equivalentTo"} +xref: GARD:3818 {source="Orphanet:2774"} xref: MESH:C567171 {source="MONDO:equivalentTo"} xref: OMIM:166300 {source="Orphanet:2774", source="MONDO:equivalentTo", source="Orphanet:2774/e", source="GARD:0003818", source="GARD:0013042"} xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source="GARD:0003818", source="GARD:0013042"} @@ -150156,7 +151512,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3818/multice id: MONDO:0008153 name: progressive osseous heteroplasia def: "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." [Orphanet:2762] -subset: gard_rare {source="GARD:0000109"} +subset: gard_rare {source="GARD:109"} subset: ordo_malformation_syndrome {source="Orphanet:2762"} synonym: "ectopic ossification familial type" RELATED [GARD:0000109] synonym: "ectopic ossification, familial" RELATED [OMIM:166350] @@ -150165,6 +151521,7 @@ synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical, OMIM:166350 synonym: "osteoma cutis" RELATED [OMIM:166350] synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762] xref: DOID:0111535 {source="MONDO:equivalentTo"} +xref: GARD:109 {source="Orphanet:2762"} xref: ICD10CM:M61.5 {source="Orphanet:2762", source="Orphanet:2762/attributed", source="Orphanet:2762/ntbt"} xref: MedDRA:10048902 {source="Orphanet:2762", source="Orphanet:2762/e"} xref: MESH:C562735 {source="MONDO:equivalentTo"} @@ -150193,10 +151550,11 @@ relationship: disease_has_location UBERON:0001684 ! mandible id: MONDO:0008155 name: osteomesopyknosis def: "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." [Orphanet:2777] -subset: gard_rare {source="GARD:0000391"} +subset: gard_rare {source="GARD:391"} subset: ordo_malformation_syndrome {source="Orphanet:2777"} synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777] synonym: "osteomesopyknosis" EXACT [OMIM:166450] +xref: GARD:391 {source="Orphanet:2777"} xref: ICD10CM:Q78.2 {source="Orphanet:2777", source="Orphanet:2777/attributed", source="Orphanet:2777/ntbt"} xref: MESH:C537792 {source="MONDO:equivalentTo"} xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"} @@ -150211,6 +151569,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/391/osteomes id: MONDO:0008156 name: autosomal dominant osteopetrosis 2 def: "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." [Orphanet:53] +subset: gard_rare {source="GARD:383"} subset: ordo_malformation_syndrome {source="Orphanet:53"} synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [OMIM:166600] synonym: "Albers-Schonberg osteopetrosis" EXACT [DOID:0110938] @@ -150226,6 +151585,7 @@ synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:166 synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600] synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600] xref: DOID:0110938 {source="MONDO:equivalentTo"} +xref: GARD:383 {source="Orphanet:53"} xref: ICD10CM:Q78.2 {source="Orphanet:53", source="Orphanet:53/ntbt", source="DOID:0110938", source="Orphanet:53/inclusion"} xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938"} xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600"} @@ -150244,6 +151604,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008157 name: Buschke-Ollendorff syndrome def: "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." [Orphanet:1306] +subset: gard_rare {source="GARD:1044"} subset: ordo_malformation_syndrome {source="Orphanet:1306"} synonym: "Bos" RELATED [MONDO:Lexical, OMIM:166700] synonym: "Buschke Ollendorff syndrome" RELATED [GARD:0001044] @@ -150259,6 +151620,7 @@ synonym: "osteopoikilosis with melorheostosis" RELATED [OMIM:166700] synonym: "osteopoikilosis with or without melorheostosis" EXACT [OMIM:166700, OMIM:genemap2] synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700] xref: DOID:0111536 {source="MONDO:equivalentTo"} +xref: GARD:1044 {source="Orphanet:1306"} xref: ICD10CM:Q78.8 {source="Orphanet:1306/attributed", source="Orphanet:1306/ntbt", source="Orphanet:1306"} xref: MESH:C537415 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} @@ -150283,11 +151645,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008158 name: dacryocystitis-osteopoikilosis syndrome def: "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." [Orphanet:1562] +subset: gard_rare {source="GARD:351"} subset: ordo_malformation_syndrome {source="Orphanet:1562"} synonym: "dacryocystitis osteopoikilosis" RELATED [GARD:0000351] synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351] synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562] synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705] +xref: GARD:351 {source="Orphanet:1562"} xref: MESH:C536061 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} xref: OMIM:166705 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} xref: Orphanet:1562 {source="OMIM:166705", source="MONDO:equivalentTo"} @@ -150328,6 +151692,7 @@ is_a: MONDO:0003847 {source="MESH:C563483/inferred"} ! hereditary disease id: MONDO:0008161 name: otodental syndrome def: "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." [Orphanet:2791] +subset: gard_rare {source="GARD:4168"} subset: ordo_malformation_syndrome {source="Orphanet:2791"} synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750] synonym: "globodontia" EXACT [Orphanet:2791] @@ -150336,6 +151701,7 @@ synonym: "otodental dysplasia" EXACT [Orphanet:2791] synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [OMIM:166750, OMIM:genemap2] synonym: "otodental syndrome" EXACT [OMIM:166750] synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750] +xref: GARD:4168 {source="Orphanet:2791"} xref: ICD10CM:K00.2 {source="Orphanet:2791/attributed", source="Orphanet:2791/ntbt", source="Orphanet:2791"} xref: OMIM:166750 {source="Orphanet:2791/e", source="MONDO:equivalentTo", source="Orphanet:2791"} xref: Orphanet:2791 {source="MONDO:equivalentTo", source="OMIM:166750"} @@ -150366,10 +151732,12 @@ intersection_of: predisposes_towards MONDO:0005441 ! otitis media id: MONDO:0008163 name: otofaciocervical syndrome def: "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." [Orphanet:2792] +subset: gard_rare {source="GARD:4169"} subset: ordo_malformation_syndrome {source="Orphanet:2792"} subset: prototype_pattern synonym: "Fara-Chlupackova syndrome" EXACT [Orphanet:2792] synonym: "OFC syndrome" EXACT [Orphanet:2792] +xref: GARD:4169 {source="Orphanet:2792"} xref: ICD10CM:Q87.0 {source="Orphanet:2792", source="Orphanet:2792/attributed", source="Orphanet:2792/ntbt"} xref: MESH:C563481 {source="MONDO:equivalentTo"} xref: OMIMPS:166780 {source="MONDO:equivalentTo"} @@ -150398,6 +151766,7 @@ is_a: MONDO:0005349 {source="DC-OMIM:166800", source="OMIM:166800"} ! otoscleros id: MONDO:0008165 name: southeast Asian ovalocytosis def: "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." [Orphanet:98868] +subset: gard_rare {source="GARD:16867"} subset: ordo_disease {source="Orphanet:98868"} synonym: "elliptocytosis 4" RELATED [OMIM:166900] synonym: "elliptocytosis, stomatocytic hereditary" RELATED [OMIM:166900] @@ -150411,6 +151780,7 @@ synonym: "ovalocytosis, SA type" EXACT [OMIM:166900, OMIM:genemap2] synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900] synonym: "sao" EXACT [Orphanet:98868] synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868] +xref: GARD:16867 {source="Orphanet:98868"} xref: ICD10CM:D58.1 {source="Orphanet:98868", source="Orphanet:98868/attributed", source="Orphanet:98868/ntbt"} xref: ICD9:282.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:166900 {source="MONDO:equivalentTo", source="Orphanet:98868", source="Orphanet:98868/e"} @@ -150465,12 +151835,14 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0008168 name: ovarian fibroma def: "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:P378] +subset: gard_rare {source="GARD:21375"} subset: ordo_disease {source="Orphanet:314473"} synonym: "fibroma of ovary" EXACT [NCIT:C3498] synonym: "fibroma of the ovary" EXACT [NCIT:C3498] synonym: "ovarian fibroma" EXACT [MONDO:ambiguous, NCIT:C3498] synonym: "ovarian fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ovarian fibromata" RELATED [OMIM:166970] +xref: GARD:21375 {source="Orphanet:314473"} xref: HP:0010618 {source="MONDO:otherHierarchy"} xref: ICD10CM:D27 {source="Orphanet:314473/ntbt", source="Orphanet:314473"} xref: MedDRA:10064257 {source="Orphanet:314473/e", source="Orphanet:314473"} @@ -150501,6 +151873,7 @@ is_a: MONDO:0003847 {source="MESH:C563478/inferred"} ! hereditary disease id: MONDO:0008170 name: ovarian cancer def: "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." [NCIT:C7431] +subset: gard_rare {source="GARD:7295"} synonym: "cancer of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] synonym: "cancer of the ovary" EXACT [NCIT:C7431] synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] @@ -150526,6 +151899,7 @@ synonym: "primary ovarian cancer" RELATED [DOID:2394] synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984] synonym: "tumour of the ovary" BROAD OMO:0003005 [] xref: DOID:2394 {source="MONDO:equivalentTo"} +xref: GARD:7295 {source="Orphanet:213500"} xref: ICD10CM:C56 {source="DOID:2394"} xref: ICD9:183.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2394"} xref: MESH:D010051 {source="MONDO:equivalentTo", source="DOID:2394"} @@ -150585,11 +151959,13 @@ is_a: MONDO:0024647 {source="https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008172 name: hypertrophic osteoarthropathy, primary, autosomal dominant +subset: gard_rare {source="GARD:15101"} synonym: "hypertrophic osteoarthropathy, primary, autosomal dominant" EXACT [MONDO:Lexical, OMIM:167100] synonym: "pachydermoperiostosis, autosomal dominant" RELATED [OMIM:167100] synonym: "PDP, autosomal dominant" RELATED [OMIM:167100] synonym: "Pho, autosomal dominant" RELATED [OMIM:167100] synonym: "PHOAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167100] +xref: GARD:15101 {source="OMIM:167100"} xref: OMIM:167100 {source="MONDO:equivalentTo"} xref: Orphanet:2796 {source="OMIM:167100"} xref: UMLS:C2674695 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167100"} @@ -150603,6 +151979,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008173 name: pachyonychia congenita 1 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15102"} synonym: "Jadassohn-Lewandowsky syndrome" RELATED [OMIM:167200] synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [OMIM:167200] synonym: "KRT16 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -150612,6 +151989,7 @@ synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1, OMIM:167200] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [OMIM:167200] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [OMIM:167200] synonym: "PC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167200] +xref: GARD:15102 {source="OMIM:167200"} xref: OMIM:167200 {source="MONDO:equivalentTo"} xref: Orphanet:2309 {source="OMIM:167200"} xref: SCTID:39427000 {source="MONDO:equivalentTo"} @@ -150626,6 +152004,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0008174 name: pachyonychia congenita 2 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15103"} synonym: "KRT17 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 2" EXACT [MONDO:Lexical, OMIM:167210] synonym: "pachyonychia congenita caused by mutation in KRT17" EXACT [MONDO:design_pattern] @@ -150633,6 +152012,7 @@ synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1, OMIM:167210] synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [OMIM:167210] synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [OMIM:167210] synonym: "PC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167210] +xref: GARD:15103 {source="OMIM:167210"} xref: OMIM:167210 {source="MONDO:equivalentTo"} xref: Orphanet:2309 {source="OMIM:167210"} xref: UMLS:C1721007 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:167210"} @@ -150646,12 +152026,13 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0008175 name: pacman dysplasia def: "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." [Orphanet:1952] -subset: gard_rare {source="GARD:0004189"} +subset: gard_rare {source="GARD:4189"} subset: ordo_malformation_syndrome {source="Orphanet:1952"} synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [Orphanet:1952] synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:167220] synonym: "pacman dysplasia" EXACT [OMIM:167220] synonym: "Pacman syndrome" RELATED [GARD:0004189] +xref: GARD:4189 {source="Orphanet:1952"} xref: ICD10CM:Q77.8 {source="Orphanet:1952", source="Orphanet:1952/attributed", source="Orphanet:1952/ntbt"} xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} @@ -150683,6 +152064,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008177 name: extramammary Paget disease def: "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." [NCIT:C3302] +subset: gard_rare {source="GARD:4192"} subset: ordo_disease {source="Orphanet:2800"} synonym: "cutaneous Paget's disease" RELATED [NCIT:C3302] synonym: "EMPD" RELATED ABBREVIATION [GARD:0004192] @@ -150694,6 +152076,7 @@ synonym: "Paget's disease of skin" EXACT [NCIT:C3302] synonym: "Paget's disease of the skin" EXACT [NCIT:C3302] synonym: "Paget's skin disease" EXACT [NCIT:C3302] xref: EFO:1000249 {source="MONDO:equivalentTo"} +xref: GARD:4192 {source="Orphanet:2800"} xref: ICD10CM:C44.5 {source="Orphanet:2800", source="Orphanet:2800/ntbt"} xref: ICDO:8542/3 {source="NCIT:C3302"} xref: MedDRA:10033366 {source="Orphanet:2800", source="Orphanet:2800/e"} @@ -150733,7 +152116,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008179 name: paroxysmal extreme pain disorder def: "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." [Orphanet:46348] -subset: gard_rare {source="GARD:0012854"} +subset: gard_rare {source="GARD:12854"} subset: ordo_disease {source="Orphanet:46348"} synonym: "familial rectal pain" EXACT [Orphanet:46348] synonym: "familial rectal syndrome" RELATED [GARD:0012854] @@ -150744,6 +152127,7 @@ synonym: "Pexpd" RELATED [OMIM:167400] synonym: "rectal pain, familial" RELATED [OMIM:167400] synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854] xref: DOID:0111537 {source="MONDO:equivalentTo"} +xref: GARD:12854 {source="Orphanet:46348"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563475 {source="MONDO:equivalentTo"} xref: NCIT:C125385 {source="MONDO:equivalentTo"} @@ -150760,10 +152144,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12854/paroxy id: MONDO:0008180 name: congenital velopharyngeal incompetence def: "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." [MESH:D014681] +subset: gard_rare {source="GARD:5470"} subset: ordo_malformation_syndrome {source="Orphanet:2291"} synonym: "palatopharyngeal incompetence" RELATED [OMIM:167500] synonym: "velopharyngeal incompetence" RELATED [OMIM:167500] synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500] +xref: GARD:5470 {source="Orphanet:2291"} xref: ICD10CM:J39.2 {source="Orphanet:2291/attributed", source="Orphanet:2291/ntbt", source="Orphanet:2291"} xref: MESH:D014681 {source="MONDO:equivalentTo"} xref: OMIM:167500 {source="Orphanet:2291/e", source="MONDO:equivalentTo", source="Orphanet:2291"} @@ -150785,7 +152171,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008182 name: nasopalpebral lipoma-coloboma syndrome def: "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." [Orphanet:2399] -subset: gard_rare {source="GARD:0003927"} +subset: gard_rare {source="GARD:3927"} subset: ordo_malformation_syndrome {source="Orphanet:2399"} synonym: "Nasopalpebral lipoma coloboma syndrome" RELATED [GARD:0003927] synonym: "NASOPALPEBRAL lipoma-coloboma syndrome" RELATED [OMIM:167730] @@ -150793,6 +152179,7 @@ synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730] synonym: "NPLCS" RELATED ABBREVIATION [OMIM:167730] synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927] synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730] +xref: GARD:3927 {source="Orphanet:2399"} xref: ICD10CM:Q10.3 {source="Orphanet:2399", source="Orphanet:2399/attributed", source="Orphanet:2399/ntbt"} xref: MESH:C538338 {source="MONDO:equivalentTo"} xref: OMIM:167730 {source="Orphanet:2399", source="MONDO:equivalentTo", source="Orphanet:2399/e"} @@ -150810,10 +152197,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3927/nasopal id: MONDO:0008183 name: annular pancreas def: "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." [Orphanet:675] -subset: gard_rare {source="GARD:0000705"} +subset: gard_rare {source="GARD:705"} subset: ordo_morphological_anomaly {source="Orphanet:675"} synonym: "pancreas, annular" RELATED [OMIM:167750] xref: DOID:0060850 {source="MONDO:equivalentTo"} +xref: GARD:705 {source="Orphanet:675"} xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"} xref: MedDRA:10071757 {source="Orphanet:675", source="Orphanet:675/e"} xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} @@ -150830,12 +152218,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/705/annular- [Term] id: MONDO:0008184 name: pancreas, dorsal, agenesis of +subset: gard_rare {source="GARD:15104"} synonym: "agenesis of the dorsal pancreas" RELATED [GARD:0004203] synonym: "complete agenesis of the dorsal pancreas" RELATED [GARD:0004203] synonym: "congenital short pancreas" RELATED [GARD:0004203] synonym: "pancreas agenesis, dorsal" RELATED [GARD:0004203] synonym: "pancreas, dorsal, agenesis of" EXACT [OMIM:167755] synonym: "partial agenesis of the dorsal pancreas" RELATED [GARD:0004203] +xref: GARD:15104 {source="OMIM:167755"} xref: MESH:C538109 {source="MONDO:equivalentTo"} xref: OMIM:167755 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="OMIM:167755"} @@ -150847,7 +152237,7 @@ property_value: confidence "2.250000000000001" xsd:double id: MONDO:0008185 name: hereditary chronic pancreatitis def: "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." [Orphanet:676] -subset: gard_rare +subset: gard_rare {source="GARD:6632"} subset: ordo_disease {source="Orphanet:676"} subset: predisposition synonym: "autosomal dominant hereditary pancreatitis" RELATED [MESH:C537262] @@ -150865,6 +152255,7 @@ synonym: "pancreatitis, chronic, protection against, included" RELATED [MESH:C53 synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800] synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800] synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800] +xref: GARD:6632 {source="Orphanet:676"} xref: ICD10CM:K86.1 {source="Orphanet:676", source="Orphanet:676/attributed", source="Orphanet:676/ntbt"} xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537262 {source="MONDO:equivalentTo"} @@ -150935,7 +152326,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008189 name: papillomatosis, florid, of nipple def: "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." [NCIT:P378] -subset: gard_rare {source="GARD:0010174"} synonym: "erosive adenomatosis of nipple" EXACT [NCIT:C4383] synonym: "erosive adenomatosis of the nipple" RELATED [GARD:0010174] synonym: "erosive nipple adenomatosis" EXACT [NCIT:C4383] @@ -150971,6 +152361,7 @@ consider: http://identifiers.org/hgnc/5167 {source="MONDO:mim2gene_medgen"} id: MONDO:0008192 name: paragangliomas 1 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:7324"} synonym: "carotid body tumors" RELATED [OMIM:168000] synonym: "carotid body tumours" RELATED OMO:0003005 [] synonym: "chemodectomas" RELATED [OMIM:168000] @@ -150988,6 +152379,7 @@ synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000] synonym: "Paragangliomata" RELATED [OMIM:168000] synonym: "PGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168000] synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:7324 {source="OMIM:168000"} xref: OMIM:168000 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:168000"} xref: UMLS:C0007279 {source="MONDO:relatedTo", source="OMIM:168000"} @@ -151007,9 +152399,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008193 name: paralysis agitans, juvenile, of Hunt -subset: gard_rare {source="GARD:0010359"} +subset: gard_rare {source="GARD:10359"} synonym: "paralysis agitans, juvenile, of Hunt" EXACT [OMIM:168100] synonym: "Parkinson disease, juvenile, of Hunt" RELATED [OMIM:168100] +xref: GARD:10359 {source="OMIM:168100"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562469 {source="MONDO:equivalentTo"} xref: OMIM:168100 {source="MONDO:equivalentTo"} @@ -151035,6 +152428,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008195 name: paramyotonia congenita of Von Eulenburg def: "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." [Orphanet:684] +subset: gard_rare {source="GARD:7325"} subset: ordo_disease {source="Orphanet:684"} synonym: "Eulenburg disease" RELATED [GARD:0007325] synonym: "myotonia congenita intermittens" RELATED [GARD:0007325] @@ -151046,6 +152440,7 @@ synonym: "paramyotonia congenita without cold paralysis" RELATED [OMIM:168300] synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168300] synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325] xref: DOID:0111538 {source="MONDO:equivalentTo"} +xref: GARD:7325 {source="Orphanet:684"} xref: ICD10CM:G71.1 {source="Orphanet:684/ntbt", source="Orphanet:684/inclusion", source="Orphanet:684"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538616 {source="Orphanet:684/e", source="Orphanet:684"} @@ -151065,11 +152460,12 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0008196 name: parastremmatic dwarfism def: "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." [Orphanet:2646] -subset: gard_rare {source="GARD:0004222"} +subset: gard_rare {source="GARD:4222"} subset: ordo_malformation_syndrome {source="Orphanet:2646"} synonym: "parastremmatic dwarfism" EXACT [OMIM:168400] synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222] xref: DOID:0111539 {source="MONDO:equivalentTo"} +xref: GARD:4222 {source="Orphanet:2646"} xref: ICD10CM:Q87.1 {source="Orphanet:2646", source="Orphanet:2646/attributed", source="Orphanet:2646/ntbt"} xref: MESH:C537172 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: OMIM:168400 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} @@ -151086,6 +152482,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4222/parastr id: MONDO:0008197 name: parietal foramina 1 def: "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18051"} synonym: "catlin Marks" RELATED [OMIM:168500] synonym: "cranium bifidum occultum" RELATED [OMIM:168500] synonym: "cranium bifidum, hereditary" RELATED [OMIM:168500] @@ -151097,6 +152494,7 @@ synonym: "parietal foramina caused by mutation in MSX2" EXACT [MONDO:design_patt synonym: "parietal foramina, symmetric" RELATED [OMIM:168500] synonym: "PFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168500] synonym: "PFM1" RELATED ABBREVIATION [OMIM:168500] +xref: GARD:18051 {source="OMIM:168500"} xref: MESH:C566827 {source="MONDO:equivalentTo"} xref: OMIM:168500 {source="MONDO:equivalentTo"} xref: Orphanet:60015 {source="OMIM:168500"} @@ -151112,12 +152510,14 @@ property_value: confidence "0.22100122100122044" xsd:double id: MONDO:0008198 name: parietal foramina with cleidocranial dysplasia def: "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." [Orphanet:251290] +subset: gard_rare {source="GARD:17207"} subset: ordo_malformation_syndrome {source="Orphanet:251290"} synonym: "cleidocranial dysplasia with parietal foramina" RELATED [OMIM:168550] synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290] synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290] synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550] synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168550] +xref: GARD:17207 {source="Orphanet:251290"} xref: ICD10CM:Q74.0 {source="Orphanet:251290/attributed", source="Orphanet:251290/ntbt", source="Orphanet:251290"} xref: MESH:C566825 {source="MONDO:equivalentTo"} xref: OMIM:168550 {source="Orphanet:251290/e", source="MONDO:equivalentTo", source="Orphanet:251290"} @@ -151131,6 +152531,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0008199 name: late-onset Parkinson disease def: "A Parkinson disease that begins after around the age of 50." [https://medlineplus.gov/genetics/condition/parkinson-disease/] +subset: gard_rare {source="GARD:17684"} subset: ordo_disease {source="Orphanet:411602"} synonym: "autosomal dominant late-onset Parkinson disease" EXACT [Orphanet:411602] synonym: "hereditary late onset Parkinson disease" EXACT CLINGEN_PREFERRED [] @@ -151146,6 +152547,7 @@ synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXAC synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] synonym: "PD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168600] xref: DOID:0060892 {source="MONDO:equivalentTo"} +xref: GARD:17684 {source="Orphanet:411602"} xref: ICD10CM:G20 {source="Orphanet:411602", source="Orphanet:411602/attributed", source="Orphanet:411602/ntbt"} xref: OMIM:168600 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="DOID:0060892", source="MONDO:equivalentTo"} @@ -151164,6 +152566,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008200 name: autosomal dominant Parkinson disease 1 comment: Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation +subset: gard_rare {source="GARD:18474"} synonym: "atypical Parkinson disease" RELATED [OMIM:168601] synonym: "autosomal dominant Parkinson disease 1" EXACT CLINGEN_PREFERRED [] synonym: "autosomal dominant Parkinson disease type 1" EXACT [DOID:0060367, MONDORULE:1] @@ -151172,6 +152575,7 @@ synonym: "PARK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168601] synonym: "Parkinson disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:168601] synonym: "Parkinson disease 1, autosomal dominant Lewy body" RELATED [OMIM:168601] xref: DOID:0060367 {source="MONDO:equivalentTo"} +xref: GARD:18474 {source="OMIM:168601"} xref: MESH:C566823 {source="MONDO:equivalentTo"} xref: OMIM:168601 {source="DOID:0060367", source="MONDO:equivalentTo"} xref: Orphanet:171695 {source="OMIM:168601", source="MONDO:directSiblingOf"} @@ -151189,12 +152593,13 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0008201 name: Perry syndrome def: "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." [Orphanet:178509] -subset: gard_rare {source="GARD:0010453"} +subset: gard_rare {source="GARD:10453"} subset: ordo_disease {source="Orphanet:178509"} synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [OMIM:168605, Orphanet:178509] synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486] synonym: "Perry syndrome" EXACT [OMIM:168605] xref: DOID:0060486 {source="MONDO:equivalentTo"} +xref: GARD:10453 {source="Orphanet:178509"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo"} xref: OMIM:168605 {source="DOID:0060486", source="Orphanet:178509/e", source="MONDO:equivalentTo", source="Orphanet:178509"} @@ -151239,6 +152644,7 @@ consider: MONDO:0007841 id: MONDO:0008205 name: patella aplasia/hypoplasia def: "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." [Orphanet:86789] +subset: gard_rare {source="GARD:8709"} subset: ordo_morphological_anomaly {source="Orphanet:86789"} synonym: "absent patella" RELATED [GARD:0008709] synonym: "familial absence of the patella" RELATED [GARD:0008709] @@ -151246,6 +152652,7 @@ synonym: "familial aplasia of the patella (subtype)" RELATED [GARD:0008709] synonym: "patella aplasia or hypoplasia" EXACT [OMIM:168860, OMIM:genemap2] synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860] synonym: "PTLAH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168860, Orphanet:86789] +xref: GARD:8709 {source="Orphanet:86789"} xref: ICD10CM:Q74.1 {source="Orphanet:86789/inclusion", source="Orphanet:86789", source="Orphanet:86789/ntbt"} xref: MESH:C535568 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} xref: OMIM:168860 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} @@ -151262,10 +152669,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008206 name: benign paroxysmal tonic upgaze of childhood with ataxia def: "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." [Orphanet:1179] +subset: gard_rare {source="GARD:4176"} subset: ordo_disease {source="Orphanet:1179"} synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176] synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179] synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885] +xref: GARD:4176 {source="Orphanet:1179"} xref: ICD10CM:G96.8 {source="Orphanet:1179/attributed", source="Orphanet:1179/ntbt", source="Orphanet:1179"} xref: MESH:C566817 {source="MONDO:equivalentTo"} xref: OMIM:168885 {source="Orphanet:1179", source="MONDO:equivalentTo", source="Orphanet:1179/e"} @@ -151315,7 +152724,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008209 name: Char syndrome def: "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." [Orphanet:46627] -subset: gard_rare {source="GARD:0001237"} +subset: gard_rare {source="GARD:1237"} subset: ordo_malformation_syndrome {source="Orphanet:46627"} synonym: "CHAR" RELATED ABBREVIATION [OMIM:169100] synonym: "Char" RELATED [OMIM:169100] @@ -151324,6 +152733,7 @@ synonym: "Char syndrome" EXACT [OMIM:169100] synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [OMIM:169100] synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627] xref: DOID:0060563 {source="MONDO:equivalentTo"} +xref: GARD:1237 {source="Orphanet:46627"} xref: ICD10CM:Q87.8 {source="Orphanet:46627/attributed", source="Orphanet:46627/ntbt", source="Orphanet:46627"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538076 {source="Orphanet:46627", source="Orphanet:46627/e"} @@ -151344,6 +152754,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1237/char-sy id: MONDO:0008210 name: patterned macular dystrophy 1 def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18237"} synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] synonym: "butterfly-shaped pigment dystrophy of the fovea" RELATED [GARD:0009821] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [DOID:0060866] @@ -151357,6 +152768,7 @@ synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO: synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1] synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060866 {source="MONDO:equivalentTo"} +xref: GARD:18237 {source="OMIM:169150"} xref: OMIM:169150 {source="MONDO:equivalentTo", source="DOID:0060866"} xref: Orphanet:99001 {source="OMIM:169150"} xref: UMLS:C1868569 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:169150"} @@ -151370,10 +152782,12 @@ property_value: confidence "0.4999999999999998" xsd:double id: MONDO:0008211 name: pseudoleprechaunism syndrome, Patterson type def: "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." [Orphanet:2976] +subset: gard_rare {source="GARD:4259"} subset: ordo_malformation_syndrome {source="Orphanet:2976"} synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170] synonym: "Patterson syndrome" EXACT [Orphanet:2976] synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259] +xref: GARD:4259 {source="Orphanet:2976"} xref: ICD10CM:E34.8 {source="Orphanet:2976", source="Orphanet:2976/attributed", source="Orphanet:2976/ntbt"} xref: MESH:C536310 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} xref: OMIM:169170 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} @@ -151436,6 +152850,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008215 name: adult-onset autosomal dominant demyelinating leukodystrophy def: "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." [Orphanet:99027] +subset: gard_rare {source="GARD:10587"} subset: ordo_disease {source="Orphanet:99027"} synonym: "ADLD" EXACT ABBREVIATION [DOID:0060785, MONDO:Lexical, OMIM:169500, Orphanet:99027] synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT CLINGEN_PREFERRED [Orphanet:99027] @@ -151450,6 +152865,7 @@ synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" R synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500] xref: DECIPHER:59 {source="MONDO:equivalentTo"} xref: DOID:0060785 {source="MONDO:equivalentTo"} +xref: GARD:10587 {source="Orphanet:99027"} xref: ICD10CM:E75.2 {source="Orphanet:99027", source="DOID:0060785", source="Orphanet:99027/attributed", source="Orphanet:99027/ntbt"} xref: MESH:C566813 {source="MONDO:equivalentTo"} xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="Orphanet:99027/e"} @@ -151477,10 +152893,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008217 name: pelvis-shoulder dysplasia def: "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." [Orphanet:2839] +subset: gard_rare {source="GARD:16611"} subset: ordo_malformation_syndrome {source="Orphanet:2839"} synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839] synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550] synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839] +xref: GARD:16611 {source="Orphanet:2839"} xref: ICD10CM:Q87.5 {source="Orphanet:2839/attributed", source="Orphanet:2839/ntbt", source="Orphanet:2839"} xref: MESH:C566811 {source="MONDO:equivalentTo"} xref: OMIM:169550 {source="Orphanet:2839/e", source="MONDO:equivalentTo", source="Orphanet:2839"} @@ -151498,7 +152916,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008218 name: Hailey-Hailey disease def: "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." [Orphanet:2841] -subset: gard_rare {source="GARD:0006559"} +subset: gard_rare {source="GARD:6559"} subset: ordo_disease {source="Orphanet:2841"} synonym: "BCPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169600] synonym: "benign chronic familial pemphigus of Hailey-Hailey" EXACT [Orphanet:2841] @@ -151509,6 +152927,7 @@ synonym: "familial benign pemphigus" RELATED [GARD:0006559] synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841] synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600] xref: DOID:0050429 {source="MONDO:equivalentTo"} +xref: GARD:6559 {source="Orphanet:2841"} xref: ICD10CM:Q82.8 {source="Orphanet:2841/ntbt", source="Orphanet:2841/inclusion", source="Orphanet:2841", source="DOID:0050429"} xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429"} @@ -151528,12 +152947,14 @@ id: MONDO:0008219 name: pemphigus vulgaris def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%)." [Orphanet:704] comment: Editor note: check familial vs acquired -subset: gard_rare +subset: gard_rare {source="GARD:4270", source="GARD:7355"} subset: ordo_disease {source="Orphanet:704"} synonym: "familial pemphigus vulgaris" EXACT [DOID:0060851] synonym: "pemphigus vulgaris, familial" RELATED [OMIM:169610] xref: DOID:0060851 {source="MONDO:equivalentTo"} xref: EFO:0004719 {source="MONDO:equivalentTo"} +xref: GARD:4270 {source="OMIM:169610"} +xref: GARD:7355 {source="Orphanet:704"} xref: ICD10CM:L10.0 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="Orphanet:704/e"} xref: MedDRA:10052802 {source="Orphanet:704", source="Orphanet:704/e"} xref: MESH:C536645 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} @@ -151563,12 +152984,14 @@ is_obsolete: true id: MONDO:0008221 name: prolidase deficiency def: "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." [Orphanet:742] +subset: gard_rare {source="GARD:7473"} subset: ordo_disease {source="Orphanet:742"} synonym: "hyperimidodipeptiduria" EXACT [Orphanet:742] synonym: "Imidodipeptidase deficiency" RELATED [GARD:0007473] synonym: "Peptidase deficiency" RELATED [GARD:0007473] synonym: "prolidase deficiency" EXACT CLINGEN_PREFERRED [OMIM:170100] xref: DOID:0111540 {source="MONDO:equivalentTo"} +xref: GARD:7473 {source="Orphanet:742"} xref: ICD10CM:E72.8 {source="Orphanet:742", source="Orphanet:742/attributed", source="Orphanet:742/ntbt"} xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: NCIT:C85029 {source="MONDO:equivalentTo"} @@ -151594,6 +153017,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008222 name: Andersen-Tawil syndrome def: "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." [Orphanet:37553] +subset: gard_rare {source="GARD:9453"} subset: ordo_disease {source="Orphanet:37553"} synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, Orphanet:37553] synonym: "Andersen syndrome" EXACT [DOID:0050434, OMIM:170390, Orphanet:37553] @@ -151607,6 +153031,7 @@ synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATE synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434] synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453] xref: DOID:0050434 {source="MONDO:equivalentTo"} +xref: GARD:9453 {source="Orphanet:37553"} xref: ICD10CM:G72.3 {source="Orphanet:37553", source="Orphanet:37553/attributed", source="Orphanet:37553/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D050030 {source="DOID:0050434", source="MONDO:equivalentTo"} @@ -151628,7 +153053,7 @@ property_value: confidence "0.2757499999999997" xsd:double id: MONDO:0008223 name: hypokalemic periodic paralysis def: "Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." [Orphanet:681] -subset: gard_rare {source="GARD:0006729"} +subset: gard_rare {source="GARD:6729"} subset: ordo_disease {source="Orphanet:681"} synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452] synonym: "familial periodic paralysis" RELATED EXCLUDE [DOID:14452] @@ -151642,6 +153067,7 @@ synonym: "periodic hypokalemic paralysis" EXACT [DOID:14452] synonym: "periodic paralysis I" NARROW [DOID:14452] synonym: "Westphall disease" EXACT [Orphanet:681] xref: DOID:14452 {source="MONDO:equivalentTo"} +xref: GARD:6729 {source="Orphanet:681"} xref: ICD10CM:G72.3 {source="DOID:14452", source="Orphanet:681/inclusion", source="Orphanet:681", source="Orphanet:681/ntbt"} xref: MESH:D020514 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681"} xref: NCIT:C84775 {source="MONDO:equivalentTo", source="DOID:14452"} @@ -151662,7 +153088,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6729/hypokal id: MONDO:0008224 name: hyperkalemic periodic paralysis def: "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." [Orphanet:682] -subset: gard_rare +subset: gard_rare {source="GARD:195"} subset: ordo_disease {source="Orphanet:682"} synonym: "adynamia episodica hereditaria" EXACT [Orphanet:682] synonym: "adynamia episodica hereditaria with or without myotonia" EXACT [GARD:0000195, OMIM:170500] @@ -151682,6 +153108,7 @@ synonym: "primary hyperkalemic periodic paralysis" EXACT [Orphanet:682] synonym: "primary hyperPP" EXACT [Orphanet:682] synonym: "sodium channel muscle disease" RELATED [GARD:0000195] xref: DOID:14451 {source="MONDO:equivalentTo"} +xref: GARD:195 {source="Orphanet:682"} xref: ICD10CM:G72.3 {source="Orphanet:682/inclusion", source="Orphanet:682/ntbt", source="DOID:14451", source="Orphanet:682"} xref: MESH:C535409 {source="Orphanet:682/e", source="Orphanet:682"} xref: MESH:D020513 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"} @@ -151747,10 +153174,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008227 name: peripheral dysostosis -subset: gard_rare {source="GARD:0002015"} +subset: gard_rare {source="GARD:2015"} subset: ordo_malformation_syndrome {source="Orphanet:1795"} synonym: "dysostosis peripheral" RELATED [GARD:0002015] synonym: "peripheral dysostosis" EXACT [OMIM:170700] +xref: GARD:2015 {source="Orphanet:1795"} xref: ICD10CM:Q74.8 {source="Orphanet:1795/attributed", source="Orphanet:1795/ntbt", source="Orphanet:1795"} xref: OMIM:170700 {source="Orphanet:1795", source="MONDO:equivalentTo", source="Orphanet:1795/e"} xref: Orphanet:1795 {source="OMIM:170700", source="MONDO:equivalentTo"} @@ -151801,7 +153229,6 @@ is_a: MONDO:0006873 {source="DOID:13381", source="MESH:D000752/inferred"} ! nutr [Term] id: MONDO:0008229 name: peroneal nerve, accessory deep -subset: gard_rare {source="GARD:0008546"} synonym: "accessory deep peroneal nerve" RELATED [GARD:0008546] synonym: "peroneal nerve, accessory deep" EXACT [OMIM:170980] xref: MESH:C536001 {source="MONDO:equivalentTo"} @@ -151855,10 +153282,12 @@ relationship: disease_disrupts GO:0006909 ! phagocytosis [Term] id: MONDO:0008233 name: pheochromocytoma +subset: gard_rare {source="GARD:15105"} synonym: "phaeochromocytoma" EXACT CLINGEN_PREFERRED [DOID:0050771] synonym: "pheochromocytoma" EXACT [OMIM:171300] synonym: "pheochromocytoma, susceptibility to" RELATED [OMIM:171300] xref: DOID:0050771 {source="MONDO:equivalentTo"} +xref: GARD:15105 {source="OMIM:171300"} xref: MESH:D010673 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C3326 {source="ONCOTREE:PHC"} xref: OMIM:171300 {source="DOID:0050771", source="MONDO:equivalentTo"} @@ -151874,7 +153303,7 @@ property_value: confidence "2.951520488633734" xsd:double id: MONDO:0008234 name: multiple endocrine neoplasia type 2A def: "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." [Orphanet:247698] -subset: gard_rare {source="GARD:0004881"} +subset: gard_rare {source="GARD:4881"} subset: ordo_clinical_subtype {source="Orphanet:247698"} synonym: "MEA type 2a" EXACT [NCIT:C3226] synonym: "MEA type II" EXACT [NCIT:C3226] @@ -151900,6 +153329,7 @@ synonym: "ptc syndrome" EXACT [OMIM:171400, Orphanet:247698] synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698] synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400] xref: DOID:0050430 {source="MONDO:equivalentTo"} +xref: GARD:4881 {source="Orphanet:247698"} xref: ICD10CM:D44.8 {source="Orphanet:247698/attributed", source="Orphanet:247698/ntbt", source="Orphanet:247698"} xref: ICD10CM:E31.22 {source="DOID:0050430"} xref: ICD9:258.02 {source="DOID:0050430"} @@ -151924,7 +153354,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4881/multipl [Term] id: MONDO:0008235 name: pheochromocytoma-islet cell tumor syndrome -subset: gard_rare {source="GARD:0004321"} synonym: "pheochromocytoma and islet cell tumor of the pancreas" RELATED [GARD:0004321] synonym: "pheochromocytoma and islet cell tumour of the pancreas" RELATED OMO:0003005 [] synonym: "pheochromocytoma--islet cell tumor syndrome" EXACT [OMIM:171420] @@ -151949,6 +153378,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008237 name: phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome def: "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." [Orphanet:2878] +subset: gard_rare {source="GARD:4323"} subset: ordo_malformation_syndrome {source="Orphanet:2878"} synonym: "facioauriculoradial dysplasia" RELATED [OMIM:171480] synonym: "phocomelia ectrodactyly deafness sinus arrhythmia" RELATED [GARD:0004323] @@ -151956,6 +153386,7 @@ synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhyth synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878] synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323] synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878] +xref: GARD:4323 {source="Orphanet:2878"} xref: ICD10CM:Q87.2 {source="Orphanet:2878", source="Orphanet:2878/attributed", source="Orphanet:2878/ntbt"} xref: MESH:C537498 {source="MONDO:equivalentTo"} xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="Orphanet:2878/e"} @@ -152057,13 +153488,14 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0008244 name: piebaldism def: "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." [Orphanet:2884] -subset: gard_rare {source="GARD:0004344"} +subset: gard_rare {source="GARD:4344"} subset: ordo_disease {source="Orphanet:2884"} synonym: "partial albinism" EXACT [DOID:3263] synonym: "PBT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172800] synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800] synonym: "piebaldism" EXACT [OMIM:172800] xref: DOID:3263 {source="MONDO:equivalentTo"} +xref: GARD:4344 {source="Orphanet:2884"} xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"} xref: ICD10CM:E70.39 {source="DOID:3263"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -152090,12 +153522,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4344/piebald id: MONDO:0008245 name: piebald trait-neurologic defects syndrome def: "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." [Orphanet:2885] +subset: gard_rare {source="GARD:5133"} subset: ordo_malformation_syndrome {source="Orphanet:2885"} synonym: "piebald trait neurologic defects" RELATED [GARD:0005133] synonym: "piebald trait with neurologic defects" RELATED [OMIM:172850] synonym: "telfer Sugar Jaeger syndrome" RELATED [GARD:0005133] synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885] synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133] +xref: GARD:5133 {source="Orphanet:2885"} xref: MESH:C536955 {source="MONDO:equivalentTo"} xref: OMIM:172850 {source="Orphanet:2885", source="MONDO:equivalentTo", source="Orphanet:2885/e"} xref: Orphanet:2885 {source="MONDO:equivalentTo", source="OMIM:172850"} @@ -152107,11 +153541,13 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008246 name: pigmented paravenous retinochoroidal atrophy def: "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." [Orphanet:251295] +subset: gard_rare {source="GARD:17208"} subset: ordo_disease {source="Orphanet:251295"} synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:172870] synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172870] synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295] xref: DOID:0111541 {source="MONDO:equivalentTo"} +xref: GARD:17208 {source="Orphanet:251295"} xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"} xref: MESH:C566801 {source="MONDO:equivalentTo"} xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="Orphanet:251295/e"} @@ -152126,10 +153562,12 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0008247 name: Robin sequence-oligodactyly syndrome def: "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." [Orphanet:3104] +subset: gard_rare {source="GARD:4729"} subset: ordo_malformation_syndrome {source="Orphanet:3104"} synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104] synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880] synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880] +xref: GARD:4729 {source="Orphanet:3104"} xref: ICD10CM:Q87.0 {source="Orphanet:3104/attributed", source="Orphanet:3104/ntbt", source="Orphanet:3104"} xref: MESH:C535688 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} xref: OMIM:172880 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} @@ -152173,7 +153611,7 @@ property_value: IAO:0000589 "pilonidal sinus (disease)" xsd:string [Term] id: MONDO:0008250 name: isolated growth hormone deficiency type II -subset: gard_rare {source="GARD:0001696"} +subset: gard_rare {source="GARD:1696"} subset: ordo_clinical_subtype {source="Orphanet:231679"} synonym: "autosomal dominant isolated growth hormone deficiency" EXACT [DOID:0060872] synonym: "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT [DOID:0060872] @@ -152192,6 +153630,7 @@ synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical, O synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" RELATED [GARD:0001696] synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100] xref: DOID:0060872 {source="MONDO:equivalentTo"} +xref: GARD:1696 {source="Orphanet:231679"} xref: ICD10CM:E23.0 {source="DOID:0060872", source="Orphanet:231679/attributed", source="Orphanet:231679/ntbt", source="Orphanet:231679"} xref: MESH:C562704 {source="MONDO:equivalentTo"} xref: OMIM:173100 {source="Orphanet:231679/e", source="DOID:0060872", source="MONDO:equivalentTo", source="Orphanet:231679"} @@ -152208,6 +153647,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1696/isolate id: MONDO:0008251 name: familial pityriasis rubra pilaris def: "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." [Orphanet:2897] +subset: gard_rare {source="GARD:7401"} subset: ordo_disease {source="Orphanet:2897"} synonym: "Devergie's disease" EXACT [DOID:9212] synonym: "hereditary pityriasis rubra pilaris" EXACT [MONDO:patterns/hereditary] @@ -152215,6 +153655,7 @@ synonym: "pityriasis rubra pilaris" BROAD [MONDO:Lexical, OMIM:173200] synonym: "pityriasis rubra pilaris--familial type" EXACT [MESH:C531784] synonym: "PRP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:173200] xref: DOID:9212 +xref: GARD:7401 {source="Orphanet:2897"} xref: ICD10CM:L44.0 {source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} xref: ICD9:696.4 {source="MONDO:i2s", source="DOID:9212"} xref: MedDRA:10035116 {source="Orphanet:2897", source="Orphanet:2897/e"} @@ -152302,12 +153743,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008259 name: familial spontaneous pneumothorax def: "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." [Orphanet:2903] +subset: gard_rare {source="GARD:4997"} subset: ordo_disease {source="Orphanet:2903"} synonym: "pneumothorax, primary spontaneous" RELATED [OMIM:173600] synonym: "primary spontaneous pneumothorax" RELATED [DOID:0080218, GARD:0004997] synonym: "Psp" RELATED [OMIM:173600] synonym: "spontaneous pneumothorax" RELATED [GARD:0004997] xref: DOID:0080218 {source="MONDO:equivalentTo"} +xref: GARD:4997 {source="Orphanet:2903"} xref: ICD10CM:J93.1 {source="Orphanet:2903/attributed", source="Orphanet:2903/ntbt", source="Orphanet:2903"} xref: MESH:C566795 {source="MONDO:equivalentTo"} xref: OMIM:173600 {source="Orphanet:2903/e", source="MONDO:equivalentTo", source="DOID:0080218", source="Orphanet:2903"} @@ -152325,6 +153768,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0008260 name: Kindler syndrome def: "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." [Orphanet:2908] +subset: gard_rare {source="GARD:4391"} subset: ordo_clinical_subtype {source="Orphanet:2908"} synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [OMIM:173650] synonym: "congenital bullous poikiloderma" RELATED [GARD:0004391] @@ -152337,6 +153781,7 @@ synonym: "poikiloderma of Kindler" EXACT [DOID:0060472, Orphanet:2908] synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:173650] synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650] xref: DOID:0060472 {source="MONDO:equivalentTo"} +xref: GARD:4391 {source="Orphanet:2908"} xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="Orphanet:2908/attributed", source="Orphanet:2908/ntbt"} xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="MONDO:equivalentTo", source="Orphanet:2908/e"} xref: OMIM:173650 {source="MONDO:equivalentTo"} @@ -152351,8 +153796,10 @@ property_value: confidence "0.4586894586894583" xsd:double [Term] id: MONDO:0008261 name: hereditary sclerosing poikiloderma, Weary type +subset: gard_rare {source="GARD:17136"} subset: ordo_disease {source="Orphanet:221039"} synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700] +xref: GARD:17136 {source="Orphanet:221039"} xref: ICD10CM:Q82.8 {source="Orphanet:221039", source="Orphanet:221039/attributed", source="Orphanet:221039/ntbt"} xref: MESH:C562824 {source="MONDO:equivalentTo"} xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="Orphanet:221039/e"} @@ -152366,7 +153813,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0008262 name: Poland syndrome def: "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." [Orphanet:2911] -subset: gard_rare {source="GARD:0007412"} +subset: gard_rare {source="GARD:7412"} subset: ordo_malformation_syndrome {source="Orphanet:2911"} synonym: "pectoralis muscle, absence of" RELATED [OMIM:173800] synonym: "Poland anomaly" EXACT [Orphanet:2911] @@ -152377,6 +153824,7 @@ synonym: "Poland's syndactyly" EXACT [DOID:12961] synonym: "Poland's syndrome" RELATED [GARD:0007412] synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412] xref: DOID:12961 {source="MONDO:equivalentTo"} +xref: GARD:7412 {source="Orphanet:2911"} xref: ICD10CM:Q79.8 {source="Orphanet:2911/inclusion", source="Orphanet:2911", source="Orphanet:2911/ntbt", source="DOID:12961"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036007 {source="Orphanet:2911", source="Orphanet:2911/e"} @@ -152403,6 +153851,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7412/poland- id: MONDO:0008263 name: polycystic kidney disease 1 def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18597"} synonym: "APKD1" EXACT ABBREVIATION [DOID:0110858] synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD1" EXACT [MONDO:design_pattern] synonym: "PKD1" EXACT ABBREVIATION [DOID:0110858, MONDO:Lexical, OMIM:173900] @@ -152416,6 +153865,7 @@ synonym: "polycystic kidney disease, adult, type I" EXACT [DOID:0110858] synonym: "Potter type 3 polycystic kidney disease" RELATED [OMIM:173900] synonym: "Potter type 3 polycystic kidney disease, formerly" RELATED [OMIM:173900] xref: DOID:0110858 {source="MONDO:equivalentTo"} +xref: GARD:18597 {source="OMIM:173900"} xref: MESH:C536326 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:173900 {source="MONDO:equivalentTo", source="DOID:0110858"} xref: Orphanet:730 {source="OMIM:173900"} @@ -152434,7 +153884,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008264 name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia def: "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." [GARD:0010801, PMID:25738250] -subset: gard_rare +subset: gard_rare {source="GARD:10801"} subset: ordo_disease {source="Orphanet:34149"} synonym: "ADTKD" EXACT ABBREVIATION [Orphanet:34149] synonym: "autosomal dominant interstitial kidney disease" EXACT [NCIT:C123171] @@ -152446,6 +153896,7 @@ synonym: "medullary cystic disease" RELATED [GARD:0010801] synonym: "medullary cystic kidney disease" RELATED [GARD:0010801] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] xref: EFO:0008617 {source="MONDO:equivalentTo"} +xref: GARD:10801 {source="Orphanet:34149"} xref: ICD10CM:Q61.5 {source="Orphanet:34149", source="Orphanet:34149/e", source="Orphanet:34149/specific"} xref: MEDGEN:358137 {source="UMLS:C1868139"} xref: MEDGEN:881357 {source="UMLS:C4054549"} @@ -152497,12 +153948,14 @@ property_value: confidence "4.200000000000001" xsd:double [Term] id: MONDO:0008266 name: polydactyly, postaxial, type A1 +subset: gard_rare {source="GARD:4414"} synonym: "PAPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174200] synonym: "polydactyly, postaxial" RELATED [OMIM:174200] synonym: "polydactyly, postaxial, type A1" EXACT [MONDO:Lexical, OMIM:174200] synonym: "polydactyly, postaxial, types A1 and B" EXACT [OMIM:174200, OMIM:genemap2] synonym: "postaxial polydactyly, type A" RELATED [OMIM:174200] synonym: "postaxial polydactyly, type B" RELATED [OMIM:174200] +xref: GARD:4414 {source="OMIM:174200"} xref: OMIM:174200 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:174200"} xref: Orphanet:93335 {source="MONDO:relatedTo", source="OMIM:174200"} @@ -152517,7 +153970,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008267 name: orofaciodigital syndrome V def: "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." [Orphanet:2919] -subset: gard_rare {source="GARD:0004120"} +subset: gard_rare {source="GARD:4120"} subset: ordo_malformation_syndrome {source="Orphanet:2919"} synonym: "OFD syndrome 5" RELATED [GARD:0004120] synonym: "OFD5" EXACT ABBREVIATION [DOID:0060375, MONDO:Lexical, OMIM:174300, Orphanet:2919] @@ -152538,6 +153991,7 @@ synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM: synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375] synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919] xref: DOID:0060375 {source="MONDO:equivalentTo"} +xref: GARD:4120 {source="Orphanet:2919"} xref: ICD10CM:Q87.0 {source="Orphanet:2919", source="Orphanet:2919/attributed", source="Orphanet:2919/ntbt"} xref: MESH:C557819 {source="DOID:0060375", source="MONDO:equivalentTo"} xref: OMIM:174300 {source="Orphanet:2919", source="DOID:0060375", source="MONDO:equivalentTo", source="Orphanet:2919/e"} @@ -152556,7 +154010,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4120/orofaci id: MONDO:0008268 name: polydactyly-myopia syndrome def: "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." [Orphanet:2917] -subset: gard_rare {source="GARD:0004413"} +subset: gard_rare {source="GARD:4413"} subset: ordo_malformation_syndrome {source="Orphanet:2917"} synonym: "Czeizel Brooser syndrome" RELATED [GARD:0004413] synonym: "Czeizel-Brooser syndrome" EXACT [Orphanet:2917] @@ -152566,6 +154020,7 @@ synonym: "polydactyly, postaxial, with progressive myopia" RELATED [OMIM:174310] synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310] synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413] synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413] +xref: GARD:4413 {source="Orphanet:2917"} xref: ICD10CM:Q87.2 {source="Orphanet:2917/attributed", source="Orphanet:2917/ntbt", source="Orphanet:2917"} xref: ICD9:625.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C536331 {source="MONDO:equivalentTo"} @@ -152581,6 +154036,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4413/polydac id: MONDO:0008269 name: polydactyly of a biphalangeal thumb def: "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." [Orphanet:93339] +subset: gard_rare {source="GARD:4417"} subset: ordo_morphological_anomaly {source="Orphanet:93339"} synonym: "Fromont anomaly" RELATED [OMIM:174400] synonym: "polydactyly preaxial 1" RELATED [GARD:0004417] @@ -152592,6 +154048,7 @@ synonym: "preaxial polydactyly 1" RELATED [GARD:0004417] synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339] synonym: "thenar hypoplasia" RELATED [OMIM:174400] synonym: "thumb polydactyly" RELATED [OMIM:174400] +xref: GARD:4417 {source="Orphanet:93339"} xref: ICD10CM:Q69.1 {source="Orphanet:93339/e", source="Orphanet:93339/specific", source="Orphanet:93339"} xref: MESH:C536332 {source="MONDO:equivalentTo"} xref: OMIM:174400 {source="Orphanet:93339/e", source="MONDO:equivalentTo", source="Orphanet:93339"} @@ -152609,6 +154066,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008270 name: polydactyly of a triphalangeal thumb def: "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." [https://orcid.org/0000-0001-5208-3432, Orphanet:93336] +subset: gard_rare {source="GARD:5289"} subset: ordo_morphological_anomaly {source="Orphanet:93336"} synonym: "polydactyly of triphalangeal thumb" RELATED [OMIM:174500] synonym: "polydactyly, preaxial 2" RELATED [OMIM:174500] @@ -152623,6 +154081,7 @@ synonym: "triphalangeal thumb with polysyndactyly" RELATED [OMIM:174500] synonym: "triphalangeal thumb, type i" EXACT [OMIM:174500, OMIM:genemap2] synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500] synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500] +xref: GARD:5289 {source="Orphanet:93336"} xref: ICD10CM:Q69.1 {source="Orphanet:93336", source="Orphanet:93336/attributed", source="Orphanet:93336/ntbt"} xref: OMIM:174500 {source="MONDO:equivalentTo", source="Orphanet:93336", source="Orphanet:93336/ntbt"} xref: Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"} @@ -152640,6 +154099,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008271 name: polydactyly of an index finger def: "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." [Orphanet:93337] +subset: gard_rare {source="GARD:2256"} subset: ordo_morphological_anomaly {source="Orphanet:93337"} synonym: "index finger polydactyly" RELATED [OMIM:174600] synonym: "polydactyly, preaxial 3" RELATED [OMIM:174600] @@ -152647,6 +154107,7 @@ synonym: "polydactyly, preaxial III" RELATED [OMIM:174600] synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600] synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337] synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337] +xref: GARD:2256 {source="Orphanet:93337"} xref: ICD10CM:Q69.0 {source="Orphanet:93337", source="Orphanet:93337/attributed", source="Orphanet:93337/ntbt"} xref: MESH:C566784 {source="MONDO:equivalentTo"} xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source="Orphanet:93337/e"} @@ -152662,7 +154123,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008272 name: polysyndactyly 4 def: "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." [Orphanet:93338] -subset: gard_rare +subset: gard_rare {source="GARD:9903"} subset: ordo_morphological_anomaly {source="Orphanet:93338"} synonym: "crossed polydactyly type 1" RELATED [GARD:0001616] synonym: "crossed polydactyly, type 1" RELATED [OMIM:174700] @@ -152676,6 +154137,7 @@ synonym: "polysyndactyly, uncomplicated" RELATED [OMIM:174700] synonym: "PPD4" EXACT ABBREVIATION [Orphanet:93338] synonym: "preaxial polydactyly 4" RELATED [GARD:0009903] synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338] +xref: GARD:9903 {source="Orphanet:93338"} xref: ICD10CM:Q70.4 {source="Orphanet:93338/e", source="Orphanet:93338/specific", source="Orphanet:93338"} xref: ICD9:755.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063143 {source="Orphanet:93338/e", source="Orphanet:93338"} @@ -152700,6 +154162,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1616/crossed [Term] id: MONDO:0008273 name: actinic prurigo +subset: gard_rare {source="GARD:17510"} subset: ordo_disease {source="Orphanet:330061"} synonym: "actinic prurigo" EXACT [OMIM:174770] synonym: "familial polymorphous light eruption of American Indians" EXACT [Orphanet:330061] @@ -152708,6 +154171,7 @@ synonym: "Hutchinson summer prurigo" EXACT [Orphanet:330061] synonym: "hydroa aestivale" EXACT [Orphanet:330061] synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770] synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770] +xref: GARD:17510 {source="Orphanet:330061"} xref: ICD10CM:L56.4 {source="Orphanet:330061/ntbt", source="Orphanet:330061"} xref: MESH:C566780 {source="MONDO:equivalentTo"} xref: OMIM:174770 {source="Orphanet:330061/e", source="MONDO:equivalentTo", source="Orphanet:330061"} @@ -152722,10 +154186,12 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0008274 name: polyostotic fibrous dysplasia def: "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." [NCIT:P378] +subset: gard_rare {source="GARD:4213"} subset: ordo_clinical_subtype {source="Orphanet:93276"} synonym: "fibrous dysplasia of bone" BROAD [NCIT:C34609] synonym: "PFD" EXACT ABBREVIATION [OMIM:174800] synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610] +xref: GARD:4213 {source="Orphanet:93276"} xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"} xref: ICD9:756.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036120 {source="Orphanet:93276", source="Orphanet:93276/e"} @@ -152741,6 +154207,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008275 name: familial expansile osteolysis +subset: gard_rare {source="GARD:9168"} subset: ordo_disease {source="Orphanet:85195"} synonym: "EOF" RELATED ABBREVIATION [GARD:0009168] synonym: "expansile osteolysis, familial" RELATED [OMIM:174810] @@ -152753,6 +154220,7 @@ synonym: "Mccabe disease" RELATED [OMIM:174810] synonym: "osteolysis, familial expansile" RELATED [GARD:0009168] synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810] xref: DOID:0111542 {source="MONDO:equivalentTo"} +xref: GARD:9168 {source="Orphanet:85195"} xref: ICD10CM:M89.5 {source="Orphanet:85195/attributed", source="Orphanet:85195/ntbt", source="Orphanet:85195"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536335 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} @@ -152769,6 +154237,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008276 name: generalized juvenile polyposis/juvenile polyposis coli subset: clingen +subset: gard_rare {source="GARD:17508"} subset: ordo_clinical_subtype {source="Orphanet:329971"} synonym: "generalized juvenile polyposis/juvenile polyposis coli" EXACT CLINGEN_PREFERRED [] synonym: "jPS" RELATED [MONDO:Lexical, OMIM:174900] @@ -152779,6 +154248,7 @@ synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900] synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900] synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900] xref: DOID:0050787 {source="MONDO:equivalentTo"} +xref: GARD:17508 {source="Orphanet:329971"} xref: ICD10CM:D12.6 {source="Orphanet:329971", source="Orphanet:329971/attributed", source="Orphanet:329971/ntbt"} xref: Orphanet:2929 {source="OMIM:174900"} xref: Orphanet:329971 {source="OMIM:174900", source="MONDO:equivalentTo"} @@ -152848,7 +154318,7 @@ id: MONDO:0008280 name: Peutz-Jeghers syndrome def: "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." [Orphanet:2869] subset: clingen -subset: gard_rare {source="GARD:0007378"} +subset: gard_rare {source="GARD:7378"} subset: ordo_disease {source="Orphanet:2869"} synonym: "colonic hamartomatous polyp" EXACT [DOID:3852, NCIT:C5519] synonym: "gastric Peutz-Jeghers polyp" EXACT [DOID:3852] @@ -152868,6 +154338,7 @@ synonym: "polyposis, hamartomatous intestinal" RELATED [OMIM:175200] synonym: "polyps and spots syndrome" EXACT [Orphanet:2869] synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200] xref: DOID:3852 {source="MONDO:equivalentTo"} +xref: GARD:7378 {source="Orphanet:2869"} xref: ICD10CM:Q85.8 {source="DOID:3852", source="Orphanet:2869/inclusion", source="Orphanet:2869", source="Orphanet:2869/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10034764 {source="Orphanet:2869/e", source="Orphanet:2869"} @@ -152917,7 +154388,7 @@ is_a: MONDO:0003847 {source="MESH:C566776/inferred"} ! hereditary disease id: MONDO:0008283 name: Cronkhite-Canada syndrome def: "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." [Orphanet:2930] -subset: gard_rare +subset: gard_rare {source="GARD:4427"} subset: ordo_disease {source="Orphanet:2930"} synonym: "Cronkhite-Canada disease" RELATED [GARD:0004427] synonym: "Cronkhite-Canada syndrome" EXACT [OMIM:175500] @@ -152927,6 +154398,7 @@ synonym: "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail chang synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD:0004427] synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500] xref: DOID:6225 {source="MONDO:equivalentTo"} +xref: GARD:4427 {source="Orphanet:2930"} xref: ICD10CM:D12.6 {source="Orphanet:2930", source="Orphanet:2930/ntbt"} xref: MedDRA:10062907 {source="Orphanet:2930", source="Orphanet:2930/e"} xref: MESH:D044483 {source="MONDO:equivalentTo"} @@ -152957,8 +154429,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008285 name: polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +subset: gard_rare {source="GARD:15106"} synonym: "gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT [OMIM:175510, OMIM:genemap2] synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [OMIM:175510] +xref: GARD:15106 {source="OMIM:175510"} xref: MESH:C566774 {source="MONDO:equivalentTo"} xref: OMIM:175510 {source="MONDO:equivalentTo"} xref: UMLS:C1868000 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:175510"} @@ -152969,10 +154443,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008286 name: crossed polysyndactyly def: "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." [Orphanet:2935] -subset: gard_rare {source="GARD:0001617"} +subset: gard_rare {source="GARD:1617"} subset: ordo_malformation_syndrome {source="Orphanet:2935"} synonym: "crossed polydactyly" EXACT [Orphanet:2935] synonym: "polysyndactyly, crossed" RELATED [OMIM:175690] +xref: GARD:1617 {source="Orphanet:2935"} xref: ICD10CM:Q70.4 {source="Orphanet:2935", source="Orphanet:2935/attributed", source="Orphanet:2935/ntbt"} xref: MESH:C566773 {source="MONDO:equivalentTo"} xref: OMIM:175690 {source="Orphanet:2935/e", source="MONDO:equivalentTo", source="Orphanet:2935"} @@ -152986,7 +154461,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1617/crossed id: MONDO:0008287 name: Greig cephalopolysyndactyly syndrome def: "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." [Orphanet:380] -subset: gard_rare {source="GARD:0006550"} +subset: gard_rare {source="GARD:6550"} subset: ordo_malformation_syndrome {source="Orphanet:380"} synonym: "GCPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175700, Orphanet:380] synonym: "Greig cephalopolysyndactyly syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:175700] @@ -152996,6 +154471,7 @@ synonym: "Greig's syndrome" EXACT [NCIT:C35255] synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700] synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761] xref: DOID:14761 {source="MONDO:equivalentTo"} +xref: GARD:6550 {source="Orphanet:380"} xref: ICD10CM:Q87.0 {source="Orphanet:380", source="Orphanet:380/attributed", source="Orphanet:380/ntbt"} xref: MedDRA:10053878 {source="Orphanet:380", source="Orphanet:380/e"} xref: MESH:C537300 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} @@ -153029,6 +154505,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008289 name: brain small vessel disease 1 with or without ocular anomalies def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12264", source="GARD:15107"} subset: ordo_disease {source="Orphanet:36383"} synonym: "ADT1P" EXACT ABBREVIATION [OMIM:175780] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [DOID:0090125] @@ -153056,6 +154533,8 @@ synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780] synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595] synonym: "T1P" EXACT ABBREVIATION [OMIM:175780] xref: DOID:0090125 {source="MONDO:equivalentTo"} +xref: GARD:12264 {source="Orphanet:36383"} +xref: GARD:15107 {source="OMIM:175780"} xref: ICD10CM:I67.3 {source="Orphanet:36383/attributed", source="Orphanet:36383/ntbt"} xref: MESH:C531642 {source="MONDO:equivalentTo", source="Orphanet:36383/e"} xref: MESH:C564372 {source="MONDO:MEDIC", source="MONDO:equivalentTo"} @@ -153078,10 +154557,12 @@ property_value: confidence "2.5470085470085473" xsd:double [Term] id: MONDO:0008290 name: porokeratosis 1, Mibelli type +subset: gard_rare {source="GARD:15108"} synonym: "POROK1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175800] synonym: "porokeratosis 1, MIBELLI type" RELATED [MONDO:Lexical, OMIM:175800] synonym: "porokeratosis 1, multiple types" RELATED [OMIM:175800] synonym: "porokeratosis of Mibelli" RELATED [OMIM:175800] +xref: GARD:15108 {source="OMIM:175800"} xref: OMIM:175800 {source="MONDO:equivalentTo"} xref: Orphanet:735 {source="OMIM:175800"} xref: UMLS:C0949506 {source="OMIM:175800", source="MONDO:ncbi_mim2gene_medline"} @@ -153094,6 +154575,7 @@ property_value: confidence "1.1527777777777777" xsd:double id: MONDO:0008291 name: porokeratosis plantaris palmaris et disseminata def: "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." [Orphanet:737] +subset: gard_rare {source="GARD:16542"} subset: ordo_disease {source="Orphanet:737"} synonym: "palmar, plantar and disseminated porokeratosis" EXACT [Orphanet:737] synonym: "POROK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175850] @@ -153103,6 +154585,7 @@ synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850] synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850] +xref: GARD:16542 {source="Orphanet:737"} xref: ICD10CM:Q82.8 {source="Orphanet:737", source="Orphanet:737/attributed", source="Orphanet:737/ntbt"} xref: OMIM:175850 {source="MONDO:equivalentTo", source="Orphanet:737", source="Orphanet:737/e"} xref: Orphanet:737 {source="MONDO:equivalentTo", source="OMIM:175850"} @@ -153116,6 +154599,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008292 name: punctate palmoplantar keratoderma type 2 def: "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." [Orphanet:79502] +subset: gard_rare {source="GARD:4439"} subset: ordo_disease {source="Orphanet:79502"} synonym: "keratoderma palmoplantar, punctate type 2" RELATED [GARD:0004439] synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical, OMIM:175860] @@ -153126,6 +154610,7 @@ synonym: "punctate palmoplantar hyperkeratosis type 2" EXACT [Orphanet:79502] synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213] synonym: "type 2 punctate PPK" RELATED [GARD:0004439] xref: DOID:0080213 {source="MONDO:equivalentTo"} +xref: GARD:4439 {source="Orphanet:79502"} xref: ICD10CM:Q82.8 {source="Orphanet:79502", source="Orphanet:79502/attributed", source="Orphanet:79502/ntbt"} xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="Orphanet:79502/e"} xref: Orphanet:79502 {source="MONDO:equivalentTo", source="OMIM:175860"} @@ -153137,6 +154622,7 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0008293 name: porokeratosis 3, disseminated superficial actinic type +subset: gard_rare {source="GARD:9505"} synonym: "Dsap" RELATED [OMIM:175900] synonym: "DSAP1" RELATED ABBREVIATION [GARD:0009505] synonym: "POROK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175900] @@ -153144,6 +154630,7 @@ synonym: "porokeratosis 3, disseminated superficial actinic type" EXACT [MONDO:L synonym: "porokeratosis 3, multiple types" RELATED [OMIM:175900] synonym: "porokeratosis, disseminated superficial actinic 1" RELATED [GARD:0009505] synonym: "porokeratosis, disseminated superficial actinic, 1" RELATED [OMIM:175900] +xref: GARD:9505 {source="OMIM:175900"} xref: MESH:C536339 {source="MONDO:equivalentTo"} xref: OMIM:175900 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:175900"} @@ -153158,6 +154645,7 @@ property_value: confidence "1.1527777777777777" xsd:double id: MONDO:0008294 name: acute intermittent porphyria def: "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." [Orphanet:79276] +subset: gard_rare {source="GARD:5732"} subset: ordo_disease {source="Orphanet:79276"} synonym: "acute intermittent porphyria" EXACT CLINGEN_PREFERRED [] synonym: "AIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176000] @@ -153175,6 +154663,7 @@ synonym: "pyrroloporphyria" EXACT [DOID:3890] synonym: "UPS deficiency" RELATED [OMIM:176000] synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000] xref: DOID:3890 {source="MONDO:equivalentTo"} +xref: GARD:5732 {source="Orphanet:79276"} xref: ICD10CM:E80.2 {source="Orphanet:79276", source="Orphanet:79276/attributed", source="Orphanet:79276/ntbt"} xref: MESH:D017118 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: NCIT:C84536 {source="MONDO:equivalentTo", source="DOID:3890"} @@ -153198,6 +154687,7 @@ id: MONDO:0008295 name: sporadic porphyria cutanea tarda def: "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial +subset: gard_rare {source="GARD:17749"} subset: ordo_clinical_subtype {source="Orphanet:443057"} synonym: "acquired porphyria cutanea tarda" EXACT [MONDO:patterns/acquired] synonym: "PCT, 'sporadic' type" RELATED [OMIM:176090] @@ -153205,6 +154695,7 @@ synonym: "PCT, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057] synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090] +xref: GARD:17749 {source="Orphanet:443057"} xref: ICD10CM:E80.1 {source="Orphanet:443057", source="Orphanet:443057/attributed", source="Orphanet:443057/ntbt"} xref: MESH:C566768 {source="MONDO:equivalentTo"} xref: OMIM:176090 {source="Orphanet:443057", source="MONDO:equivalentTo", source="Orphanet:443057/e"} @@ -153223,6 +154714,7 @@ id: MONDO:0008296 name: familial porphyria cutanea tarda def: "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial +subset: gard_rare {source="GARD:17750"} subset: ordo_clinical_subtype {source="Orphanet:443062"} synonym: "hereditary porphyria cutanea tarda" EXACT [MONDO:patterns/hereditary] synonym: "PCT" RELATED ABBREVIATION [OMIM:176100] @@ -153236,6 +154728,7 @@ synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100] synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100] synonym: "Urod deficiency" RELATED [OMIM:176100] synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100] +xref: GARD:17750 {source="Orphanet:443062"} xref: ICD10CM:E80.1 {source="Orphanet:443062", source="Orphanet:443062/attributed", source="Orphanet:443062/ntbt"} xref: OMIM:176100 {source="Orphanet:443062/e", source="MONDO:equivalentTo", source="Orphanet:443062"} xref: Orphanet:101330 {source="OMIM:176100"} @@ -153258,7 +154751,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008297 name: variegate porphyria def: "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." [Orphanet:79473] -subset: gard_rare {source="GARD:0007848"} +subset: gard_rare {source="GARD:7848"} subset: ordo_disease {source="Orphanet:79473"} synonym: "porphyria variegata" RELATED [OMIM:176200] synonym: "porphyria variegata, susceptibility to" RELATED [OMIM:176200, OMIM:genemap2] @@ -153271,6 +154764,7 @@ synonym: "variegate porphyria" EXACT [OMIM:176200, Orphanet:79473] synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200] synonym: "VP" RELATED ABBREVIATION [GARD:0007848] xref: DOID:4346 {source="MONDO:equivalentTo"} +xref: GARD:7848 {source="Orphanet:79473"} xref: ICD10CM:E80.2 {source="Orphanet:79473/attributed", source="Orphanet:79473/ntbt", source="Orphanet:79473"} xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"} xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo"} @@ -153291,10 +154785,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7848/variega id: MONDO:0008298 name: postaxial tetramelic oligodactyly def: "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." [Orphanet:2730] -subset: gard_rare {source="GARD:0004065"} +subset: gard_rare {source="GARD:4065"} subset: ordo_malformation_syndrome {source="Orphanet:2730"} synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065] synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240] +xref: GARD:4065 {source="Orphanet:2730"} xref: ICD10CM:Q73.8 {source="Orphanet:2730/attributed", source="Orphanet:2730/ntbt", source="Orphanet:2730"} xref: MESH:C566767 {source="MONDO:equivalentTo"} xref: OMIM:176240 {source="Orphanet:2730", source="MONDO:equivalentTo", source="Orphanet:2730/e"} @@ -153310,7 +154805,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4065/oligoda [Term] id: MONDO:0008299 name: posterior column ataxia -subset: gard_rare {source="GARD:0010044"} synonym: "Biemond ataxia" RELATED [OMIM:176250] synonym: "posterior column ataxia" EXACT [OMIM:176250] xref: MESH:C536342 {source="MONDO:equivalentTo"} @@ -153323,7 +154817,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10044/poster id: MONDO:0008300 name: Prader-Willi syndrome def: "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." [Orphanet:739] -subset: gard_rare {source="GARD:0005575"} +subset: gard_rare {source="GARD:5575"} subset: ordo_disease {source="Orphanet:739"} synonym: "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED [GARD:0005575] synonym: "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED DEPRECATED [GARD:0005575] @@ -153336,6 +154830,7 @@ synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [OMIM synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176270] synonym: "Willi-Prader syndrome" EXACT [Orphanet:739] xref: DOID:11983 {source="MONDO:equivalentTo"} +xref: GARD:5575 {source="Orphanet:739"} xref: ICD10CM:Q87.1 {source="Orphanet:739/inclusion", source="Orphanet:739", source="Orphanet:739/ntbt", source="DOID:11983"} xref: ICD9:759.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11983"} xref: MedDRA:10036476 {source="Orphanet:739", source="Orphanet:739/e"} @@ -153363,6 +154858,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5575/prader- id: MONDO:0008301 name: Guttmacher syndrome def: "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." [Orphanet:2957] +subset: gard_rare {source="GARD:4470"} subset: ordo_malformation_syndrome {source="Orphanet:2957"} synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [GARD:0004470] synonym: "Guttmacher syndrome" EXACT [OMIM:176305] @@ -153370,6 +154866,7 @@ synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" RELATED [G synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [OMIM:176305] synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957] xref: DOID:0111544 {source="MONDO:equivalentTo"} +xref: GARD:4470 {source="Orphanet:2957"} xref: ICD10CM:Q87.2 {source="Orphanet:2957", source="Orphanet:2957/attributed", source="Orphanet:2957/ntbt"} xref: MESH:C538278 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} xref: OMIM:176305 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} @@ -153407,6 +154904,7 @@ property_value: confidence "29.999999999999957" xsd:double id: MONDO:0008303 name: familial male-limited precocious puberty def: "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." [Orphanet:3000] +subset: gard_rare {source="GARD:4475"} subset: ordo_disease {source="Orphanet:3000"} synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [Orphanet:3000] synonym: "familial Testotoxicosis (subtype)" RELATED [GARD:0004475] @@ -153424,6 +154922,7 @@ synonym: "sexual precocity, familial, gonadotropin-independent" RELATED [OMIM:17 synonym: "testotoxicosis" EXACT [GARD:0004475, Orphanet:3000] synonym: "testotoxicosis, familial" EXACT [OMIM:176410] xref: DOID:0111545 {source="MONDO:equivalentTo"} +xref: GARD:4475 {source="Orphanet:3000"} xref: ICD10CM:E30.1 {source="Orphanet:3000/attributed", source="Orphanet:3000/ntbt", source="Orphanet:3000"} xref: MedDRA:10063654 {source="Orphanet:3000/e", source="Orphanet:3000"} xref: MedDRA:10063656 {source="Orphanet:3000/e", source="Orphanet:3000"} @@ -153457,6 +154956,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008305 name: Currarino triad def: "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." [Orphanet:1552] +subset: gard_rare {source="GARD:1626"} subset: ordo_malformation_syndrome {source="Orphanet:1552"} synonym: "CURRARINO syndrome" RELATED [OMIM:176450] synonym: "Currarino syndrome" EXACT [Orphanet:1552] @@ -153466,6 +154966,7 @@ synonym: "sacral agenesis syndrome" RELATED [OMIM:176450] synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [OMIM:176450] synonym: "Scra1" RELATED [OMIM:176450] xref: DOID:0111546 {source="MONDO:equivalentTo"} +xref: GARD:1626 {source="Orphanet:1552"} xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="Orphanet:1552/attributed", source="Orphanet:1552/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536221 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} @@ -153492,7 +154993,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008306 name: ABri amyloidosis def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070029] -subset: gard_rare +subset: gard_rare {source="GARD:8344"} subset: ordo_clinical_subtype {source="Orphanet:97345"} synonym: "ABri amyloidosis" EXACT [GARD:0008344] synonym: "Bri amyloidosis" RELATED [GARD:0008344] @@ -153507,6 +155008,7 @@ synonym: "FBD" EXACT ABBREVIATION [DOID:0070029, GARD:0008344] synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029] synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500] xref: DOID:0070029 {source="MONDO:equivalentTo"} +xref: GARD:8344 {source="Orphanet:97345"} xref: ICD10EXP:E85.4+ {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} xref: ICD10EXP:I68.0* {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="Orphanet:97345/e"} @@ -153522,7 +155024,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8344/dementi [Term] id: MONDO:0008307 name: presenile dementia, Kraepelin type -subset: gard_rare {source="GARD:0010032"} synonym: "catatonia of Kraepelin" RELATED [GARD:0010032] synonym: "Kraepelin disease" RELATED [GARD:0010032] synonym: "presenile dementia, Kraepelin type" EXACT [OMIM:176600] @@ -153546,7 +155047,6 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0008309 name: primary release disorder of platelets -subset: gard_rare {source="GARD:0010357"} synonym: "bleeding disorder due to primary defects in platelet release mechanism" RELATED [GARD:0010357] synonym: "primary release disorder of platelets" EXACT [OMIM:176630] xref: MESH:C566759 {source="MONDO:equivalentTo"} @@ -153562,7 +155062,7 @@ name: Hutchinson-Gilford progeria syndrome def: "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." [Orphanet:740] comment: Editor note: check wether subset prototype_pattern is appropriate subset: clingen -subset: gard_rare {source="GARD:0007467"} +subset: gard_rare {source="GARD:7467"} subset: ordo_disease {source="Orphanet:740"} subset: prototype_pattern synonym: "HGPS" EXACT ABBREVIATION [DOID:3911, MONDO:Lexical, OMIM:176670, Orphanet:740] @@ -153575,6 +155075,7 @@ synonym: "premature senility syndrome" EXACT [NCIT:C34951] synonym: "progeria" BROAD [OMIM:176670, Orphanet:740] synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670] xref: DOID:3911 {source="MONDO:equivalentTo"} +xref: GARD:7467 {source="Orphanet:740"} xref: ICD10CM:E34.8 {source="Orphanet:740/ntbt", source="DOID:3911", source="Orphanet:740/inclusion", source="Orphanet:740"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036794 {source="Orphanet:740/e", source="Orphanet:740"} @@ -153608,9 +155109,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7467/progeri id: MONDO:0008311 name: progeria-short stature-pigmented nevi syndrome def: "Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." [Orphanet:2959] +subset: gard_rare {source="GARD:4494"} subset: ordo_malformation_syndrome {source="Orphanet:2959"} synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959] synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690] +xref: GARD:4494 {source="Orphanet:2959"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536422 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} xref: OMIM:176690 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} @@ -153627,6 +155130,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008312 name: autosomal dominant prognathism def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313] +subset: gard_rare {source="GARD:10319"} subset: ordo_malformation_syndrome {source="Orphanet:2964"} synonym: "'Habsburg jaw'" RELATED [OMIM:176700] synonym: "'Hapsburg jaw'" RELATED [OMIM:176700] @@ -153634,6 +155138,7 @@ synonym: "Habsburg jaw" RELATED [GARD:0010319] synonym: "Hapsburg jaw" RELATED [GARD:0010319] synonym: "prognathism mandibular" RELATED [GARD:0010319] synonym: "prognathism, mandibular" RELATED [OMIM:176700] +xref: GARD:10319 {source="Orphanet:2964"} xref: MESH:D008313 {source="MONDO:equivalentTo"} xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="Orphanet:2964/e"} xref: Orphanet:2964 {source="MONDO:equivalentTo", source="OMIM:176700"} @@ -153725,6 +155230,7 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0008316 name: thrombophilia due to protein C deficiency, autosomal dominant +subset: gard_rare {source="GARD:18574"} synonym: "Proc deficiency, autosomal dominant" RELATED [OMIM:176860] synonym: "Protein C deficiency, acquired" RELATED [OMIM:176860] synonym: "Protein C deficiency, autosomal dominant" RELATED [OMIM:176860] @@ -153733,6 +155239,7 @@ synonym: "thrombophilia 3 due to protein C deficiency, autosomal dominant" EXACT synonym: "thrombophilia due to PROTEIN C deficiency, autosomal dominant" RELATED [OMIM:176860] synonym: "thrombophilia due to protein C deficiency, autosomal dominant" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:176860] xref: DOID:0111909 {source="MONDO:equivalentTo"} +xref: GARD:18574 {source="OMIM:176860"} xref: OMIM:176860 {source="MONDO:equivalentTo"} xref: Orphanet:745 {source="OMIM:176860"} xref: UMLS:C2674321 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:176860"} @@ -153754,6 +155261,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008318 name: Proteus syndrome def: "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." [Orphanet:744] +subset: gard_rare {source="GARD:7475"} subset: ordo_malformation_syndrome {source="Orphanet:744"} synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] @@ -153764,6 +155272,7 @@ synonym: "Proteus syndrome" EXACT [OMIM:176920] synonym: "proteus syndrome, somatic" EXACT [OMIM:176920, OMIM:genemap2] synonym: "Wiedemann's syndrome" EXACT [DOID:13482] xref: DOID:13482 {source="MONDO:equivalentTo"} +xref: GARD:7475 {source="Orphanet:744"} xref: ICD10CM:Q87.3 {source="Orphanet:744", source="Orphanet:744/attributed", source="Orphanet:744/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016715 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} @@ -153789,7 +155298,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008319 name: protoporphyria, erythropoietic, 1 def: "Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21." [OMIM:177000] -subset: gard_rare synonym: "EPP" RELATED ABBREVIATION [GARD:0004527, MONDO:Lexical, OMIM:177000] synonym: "EPP1" EXACT ABBREVIATION [OMIM:177000] synonym: "erythrohepatic protoporphyria" RELATED [GARD:0004527, OMIM:177000] @@ -153835,7 +155343,7 @@ relationship: disease_has_feature HP:0000989 ! Pruritus id: MONDO:0008322 name: pseudoachondroplasia def: "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." [Orphanet:750] -subset: gard_rare {source="GARD:0004540"} +subset: gard_rare {source="GARD:4540"} subset: ordo_disease {source="Orphanet:750"} synonym: "PSACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177170] synonym: "pseudoachondroplasia" EXACT CLINGEN_PREFERRED [DOID:0080047, MONDO:Lexical, OMIM:177170] @@ -153846,6 +155354,7 @@ synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" RELATED [ synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047] synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170] xref: DOID:0080047 {source="MONDO:equivalentTo"} +xref: GARD:4540 {source="Orphanet:750"} xref: ICD10CM:Q77.8 {source="Orphanet:750/attributed", source="Orphanet:750/ntbt", source="Orphanet:750"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535819 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="Orphanet:750"} @@ -153866,7 +155375,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4540/pseudoa id: MONDO:0008323 name: Liddle syndrome def: "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone." [Orphanet:526] -subset: gard_rare {source="GARD:0007381"} +subset: gard_rare {source="GARD:7381"} subset: ordo_disease {source="Orphanet:526"} synonym: "Liddle syndrome" EXACT [MONDO:Lexical, OMIM:177200] synonym: "Liddle's syndrome" EXACT [DOID:0050477] @@ -153874,6 +155383,7 @@ synonym: "LIDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177200] synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526] synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526] xref: DOID:0050477 {source="MONDO:equivalentTo"} +xref: GARD:7381 {source="Orphanet:526"} xref: ICD10CM:I15.1 {source="Orphanet:526/attributed", source="Orphanet:526/ntbt", source="Orphanet:526"} xref: MedDRA:10037113 {source="Orphanet:526", source="Orphanet:526/e"} xref: MedDRA:10052313 {source="Orphanet:526", source="Orphanet:526/e"} @@ -153967,7 +155477,7 @@ property_value: confidence "0.6519518666964457" xsd:double id: MONDO:0008329 name: autosomal dominant pseudohypoaldosteronism type 1 def: "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." [Orphanet:171871] -subset: gard_rare {source="GARD:0009145"} +subset: gard_rare {source="GARD:9145"} subset: ordo_clinical_subtype {source="Orphanet:171871"} synonym: "autosomal dominant PHA 1" EXACT [DOID:0060855] synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT CLINGEN_PREFERRED [Orphanet:171871] @@ -153980,6 +155490,7 @@ synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Le synonym: "renal PHA1" RELATED [GARD:0009145] synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145] xref: DOID:0060855 {source="MONDO:equivalentTo"} +xref: GARD:9145 {source="Orphanet:171871"} xref: ICD10CM:N25.8 {source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/attributed", source="Orphanet:171871/ntbt"} xref: MESH:D011546 {source="DOID:0060855"} xref: NCIT:C126810 {source="MONDO:equivalentTo"} @@ -154009,10 +155520,12 @@ id: MONDO:0008331 name: obsolete pseudopapilledema def: "OBSOLETE. Apparent optic disk swelling in the absence of increased intracranial pressure." [] comment: This is a phenotypic feature and belongs in HPO. +subset: gard_rare {source="GARD:22114"} synonym: "crowded optic disk" RELATED [] synonym: "obsolete pseudopapilledema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pseudopapilledema" EXACT [MONDO:ambiguous, OMIM:177800] xref: DOID:1392 {source="MONDO:obsoleteEquivalent"} +xref: GARD:22114 {source="MONDO:obsoleteEquivalent", source="Orphanet:519339"} xref: ICD9:377.24 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1392"} xref: MESH:C562401 {source="MONDO:obsoleteEquivalent", source="DOID:1392"} xref: OMIM:177800 {source="MONDO:obsoleteEquivalent", source="DOID:1392"} @@ -154029,6 +155542,7 @@ id: MONDO:0008332 name: platelet-type von Willebrand disease def: "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." [https://orcid.org/0000-0001-5208-3432, Orphanet:52530] comment: Editor note: check relationship to vWD +subset: gard_rare {source="GARD:8312"} subset: ordo_disease {source="Orphanet:52530"} synonym: "BDPLT3" EXACT ABBREVIATION [DOID:0111056] synonym: "bleeding disorder, Platelet-type, 3" RELATED [OMIM:177820] @@ -154044,6 +155558,7 @@ synonym: "Von Willebrand disease, platelet type" RELATED [GARD:0008312] synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820] synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177820] xref: DOID:0111056 {source="MONDO:equivalentTo"} +xref: GARD:8312 {source="Orphanet:52530"} xref: ICD10CM:D69.8 {source="Orphanet:52530", source="Orphanet:52530/attributed", source="Orphanet:52530/ntbt", source="DOID:0111056"} xref: MESH:C536458 {source="MONDO:equivalentTo"} xref: NCIT:C131681 {source="MONDO:equivalentTo"} @@ -154062,9 +155577,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008333 name: pseudoxanthoma elasticum, forme fruste def: "An autosomal dominant form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] -subset: gard_rare {source="GARD:0010104"} +subset: gard_rare {source="GARD:10104"} synonym: "pseudoxanthoma elasticum, forme fruste" EXACT [OMIM:177850] synonym: "pseudoxanthoma elasticum, heterozygous" RELATED [OMIM:177850] +xref: GARD:10104 {source="OMIM:177850"} xref: OMIM:177850 {source="MONDO:equivalentTo"} xref: Orphanet:758 {source="OMIM:177850"} xref: UMLS:C1867450 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:177850"} @@ -154101,6 +155617,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008335 name: short stature-craniofacial anomalies-genital hypoplasia syndrome def: "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." [Orphanet:2994] +subset: gard_rare {source="GARD:2605"} subset: ordo_malformation_syndrome {source="Orphanet:2994"} synonym: "Haspeslagh syndrome" RELATED [OMIM:177980] synonym: "Haspeslagh-Fryns-Muelenaere syndrome" EXACT [Orphanet:2994] @@ -154110,6 +155627,7 @@ synonym: "pterygia, intellectual disability and distinctive craniofacial feature synonym: "pterygia, intellectual disability, and distinctive craniofacial features" RELATED [OMIM:177980] synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED DEPRECATED [GARD:0002605] synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [OMIM:177980] +xref: GARD:2605 {source="Orphanet:2994"} xref: ICD10CM:Q87.8 {source="Orphanet:2994/attributed", source="Orphanet:2994/ntbt", source="Orphanet:2994"} xref: MESH:C535844 {source="MONDO:equivalentTo"} xref: OMIM:177980 {source="Orphanet:2994", source="MONDO:equivalentTo", source="Orphanet:2994/e"} @@ -154134,9 +155652,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008337 name: familial pterygium of the conjunctiva def: "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." [Orphanet:2989] +subset: gard_rare {source="GARD:4569"} subset: ordo_morphological_anomaly {source="Orphanet:2989"} synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000] synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569] +xref: GARD:4569 {source="Orphanet:2989"} xref: ICD10CM:H11.0 {source="Orphanet:2989/attributed", source="Orphanet:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"} xref: MESH:C566740 {source="MONDO:equivalentTo"} xref: OMIM:178000 {source="Orphanet:2989/e", source="MONDO:equivalentTo", source="Orphanet:2989"} @@ -154149,7 +155669,7 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0008338 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A -subset: gard_rare {source="GARD:0013058"} +subset: gard_rare {source="GARD:13058"} subset: ordo_malformation_syndrome {source="Orphanet:65743"} synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical, OMIM:178110] synonym: "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" EXACT [OMIM:178110, OMIM:genemap2] @@ -154158,6 +155678,7 @@ synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743] synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110] synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110] xref: DOID:0081321 {source="MONDO:equivalentTo"} +xref: GARD:13058 {source="Orphanet:65743"} xref: ICD10CM:Q79.8 {source="Orphanet:65743", source="Orphanet:65743/attributed", source="Orphanet:65743/ntbt"} xref: MESH:C566739 {source="MONDO:equivalentTo"} xref: OMIM:178110 {source="Orphanet:65743", source="MONDO:equivalentTo", source="Orphanet:65743/e"} @@ -154178,11 +155699,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13058/autoso id: MONDO:0008339 name: antecubital pterygium syndrome subset: clingen +subset: gard_rare {source="GARD:4570"} subset: ordo_malformation_syndrome {source="Orphanet:2987"} synonym: "antecubital pterygium" RELATED [GARD:0004570] synonym: "antecubital pterygium syndrome" EXACT CLINGEN_PREFERRED [] synonym: "pterygium antecubital" RELATED [GARD:0004570] synonym: "pterygium, antecubital" RELATED [OMIM:178200] +xref: GARD:4570 {source="Orphanet:2987"} xref: MESH:C566738 {source="MONDO:equivalentTo"} xref: OMIM:178200 {source="MONDO:equivalentTo", source="Orphanet:2987", source="Orphanet:2987/e"} xref: Orphanet:2987 {source="MONDO:equivalentTo", source="OMIM:178200"} @@ -154195,6 +155718,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008340 name: ptosis, hereditary congenital, 1 def: "Congenital ptosis is characterized by superior eyelid drop present at birth." [Orphanet:91411] +subset: gard_rare {source="GARD:16798", source="GARD:18162"} subset: ordo_disease {source="Orphanet:91411"} synonym: "congenital eyelid ptosis" EXACT [NCIT:C27049] synonym: "congenital ptosis" EXACT [MONDO:ambiguous, Orphanet:91411] @@ -154204,6 +155728,8 @@ synonym: "ptosis, congenital" EXACT [OMIM:178300, OMIM:genemap2] synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300] synonym: "ptosis, hereditary congenital, 1" EXACT [OMIM:178300, OMIM:genemap2] xref: DOID:0060261 {source="MONDO:equivalentTo"} +xref: GARD:16798 {source="Orphanet:91411"} +xref: GARD:18162 {source="OMIM:178300"} xref: HP:0007970 {source="MONDO:otherHierarchy", source="DOID:0060261"} xref: ICD10CM:Q10.0 {source="Orphanet:91411/specific", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"} xref: ICD9:743.61 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060261"} @@ -154230,10 +155756,12 @@ property_value: IAO:0000589 "congenital ptosis (disease)" xsd:string id: MONDO:0008341 name: ptosis-strabismus-ectopic pupils syndrome def: "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." [Orphanet:2999] +subset: gard_rare {source="GARD:4577"} subset: ordo_malformation_syndrome {source="Orphanet:2999"} synonym: "McPherson-Hall syndrome" EXACT [Orphanet:2999] synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577] synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330] +xref: GARD:4577 {source="Orphanet:2999"} xref: MESH:C566736 {source="MONDO:equivalentTo"} xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="Orphanet:2999/e"} xref: Orphanet:2999 {source="OMIM:178330", source="MONDO:equivalentTo"} @@ -154255,10 +155783,11 @@ is_a: MONDO:0003847 {source="MESH:C566735/inferred"} ! hereditary disease id: MONDO:0008343 name: pulmonary atresia with ventricular septal defect def: "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." [Orphanet:1207] -subset: gard_rare {source="GARD:0004588"} +subset: gard_rare {source="GARD:4588"} subset: ordo_morphological_anomaly {source="Orphanet:1207"} synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370] synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033] +xref: GARD:4588 {source="Orphanet:1207"} xref: ICD10CM:Q25.5 {source="Orphanet:1207/ntbt", source="Orphanet:1207"} xref: MESH:C562833 {source="MONDO:equivalentTo"} xref: NCIT:C99033 {source="MONDO:equivalentTo"} @@ -154304,7 +155833,7 @@ replaced_by: MONDO:0800029 id: MONDO:0008346 name: pulmonary hemosiderosis def: "A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:99931] -subset: gard_rare {source="GARD:0007645"} +subset: gard_rare {source="GARD:6763"} subset: ordo_disease {source="Orphanet:99931"} synonym: "alveolar hypoventilation syndrome" RELATED [GARD:0006763] synonym: "brown induration" EXACT [DOID:12118] @@ -154315,6 +155844,7 @@ synonym: "pulmonary siderosis" EXACT [DOID:10328, MONDO:0001002] synonym: "siderosis" RELATED [DOID:10328] xref: DOID:10328 {source="MONDO:equivalentTo"} xref: DOID:12118 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:6763 {source="Orphanet:99931"} xref: ICD10CM:J63.4 {source="DOID:10328"} xref: ICD10CM:J84.03 {source="DOID:12118"} xref: ICD10EXP:E83.1+ {source="Orphanet:99931", source="Orphanet:99931/ntbt"} @@ -154339,11 +155869,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7645/sideros id: MONDO:0008347 name: obsolete idiopathic and/or familial pulmonary arterial hypertension def: "OBSOLETE. Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." [Orphanet:422] +subset: gard_rare {source="GARD:16531"} synonym: "idiopathic and/or familial pulmonary arterial hypertension" EXACT CLINGEN_PREFERRED [] synonym: "IFPAH" EXACT ABBREVIATION [MONDO:cjm] synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600] +xref: GARD:16531 {source="Orphanet:422", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.0 {source="Orphanet:422", source="Orphanet:422/e", source="Orphanet:422/specific"} xref: Orphanet:422 {source="MONDO:obsoleteEquivalent", source="OMIM:178600"} xref: UMLS:C1969342 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:178600"} @@ -154362,9 +155894,11 @@ is_obsolete: true id: MONDO:0008348 name: pulmonary nodular lymphoid hyperplasia def: "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." [Orphanet:60026] +subset: gard_rare {source="GARD:16663"} subset: ordo_disease {source="Orphanet:60026"} synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [OMIM:178610] synonym: "pulmonary pseudolymphoma" EXACT [Orphanet:60026] +xref: GARD:16663 {source="Orphanet:60026"} xref: OMIM:178610 {source="MONDO:equivalentTo", source="Orphanet:60026", source="Orphanet:60026/e"} xref: Orphanet:60026 {source="MONDO:equivalentTo", source="OMIM:178610"} xref: SCTID:718097008 {source="MONDO:equivalentTo"} @@ -154418,12 +155952,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008353 name: pruritic urticarial papules and plaques of pregnancy +subset: gard_rare {source="GARD:9635"} subset: ordo_disease {source="Orphanet:64745"} synonym: "polymorphic eruption of pregnancy" EXACT [OMIM:178995, Orphanet:64745] synonym: "pruritic urticarial papules and plaques of pregnancy" EXACT [MONDO:Lexical, OMIM:178995] synonym: "pruritic urticarial papules and plaques of pregnancy, familial (subtype)" RELATED [GARD:0009635] synonym: "pruritic urticarial papules plaques of pregnancy" RELATED [GARD:0009635] synonym: "PUPPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178995] +xref: GARD:9635 {source="Orphanet:64745"} xref: ICD10CM:O26.8 {source="Orphanet:64745", source="Orphanet:64745/ntbt"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -154477,13 +156013,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008357 name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome def: "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." [https://orcid.org/0000-0001-5208-3432, Orphanet:2252] -subset: gard_rare +subset: gard_rare {source="GARD:258"} subset: ordo_malformation_syndrome {source="Orphanet:2252"} synonym: "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" EXACT [GARD:0000258] synonym: "radial hypoplasia, triphalangeal thumbs and hypospadias" RELATED [GARD:0004626] synonym: "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" EXACT [GARD:0004626, OMIM:179250] synonym: "Schmitt Gillenwater Kelly syndrome" EXACT [GARD:0000258] synonym: "Schmitt-Gillenwater-Kelly syndrome" EXACT [Orphanet:2252] +xref: GARD:258 {source="Orphanet:2252"} xref: ICD10CM:Q87.2 {source="Orphanet:2252/attributed", source="Orphanet:2252/ntbt", source="Orphanet:2252"} xref: MESH:C536262 {source="MONDO:equivalentTo"} xref: OMIM:179250 {source="Orphanet:2252/e", source="GARD:0004626", source="MONDO:equivalentTo", source="GARD:0000258", source="Orphanet:2252"} @@ -154502,11 +156039,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008358 name: radial ray hypoplasia-choanal atresia syndrome def: "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." [Orphanet:3026] +subset: gard_rare {source="GARD:4627"} subset: ordo_malformation_syndrome {source="Orphanet:3026"} synonym: "Goldblatt-Viljoen syndrome" EXACT [Orphanet:3026] synonym: "radial ray hypoplasia and choanal atresia" RELATED [GARD:0004627] synonym: "radial ray hypoplasia choanal atresia" RELATED [GARD:0004627] synonym: "radial RAY hypoplasia with choanal atresia" RELATED [OMIM:179270] +xref: GARD:4627 {source="Orphanet:3026"} xref: MESH:C536263 {source="Orphanet:3026", source="Orphanet:3026/e"} xref: MESH:C537280 {source="Orphanet:3026", source="Orphanet:3026/e"} xref: OMIM:179270 {source="Orphanet:3026", source="MONDO:equivalentTo", source="Orphanet:3026/e"} @@ -154521,10 +156060,11 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008359 name: radio-renal syndrome def: "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." [Orphanet:3015] -subset: gard_rare {source="GARD:0000224"} +subset: gard_rare {source="GARD:224"} subset: ordo_malformation_syndrome {source="Orphanet:3015"} synonym: "radial-renal syndrome" RELATED [OMIM:179280] synonym: "radio renal syndrome" RELATED [GARD:0000224] +xref: GARD:224 {source="Orphanet:3015"} xref: MESH:C536267 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} xref: OMIM:179280 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} xref: Orphanet:3015 {source="MONDO:equivalentTo", source="OMIM:179280"} @@ -154605,6 +156145,7 @@ is_a: MONDO:0005294 {source="DOID:10300", source="EFO:1001145", source="MESH:D01 id: MONDO:0008365 name: recombinant 8 syndrome def: "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." [Orphanet:96167] +subset: gard_rare {source="GARD:9698"} subset: ordo_malformation_syndrome {source="Orphanet:96167"} synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [OMIM:179613] synonym: "Duplication 8q/deletion 8p" EXACT [Orphanet:96167] @@ -154614,6 +156155,7 @@ synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [OMIM:179613] synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167] synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698] synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167] +xref: GARD:9698 {source="Orphanet:96167"} xref: ICD10CM:Q99.8 {source="Orphanet:96167", source="Orphanet:96167/attributed", source="Orphanet:96167/ntbt"} xref: MESH:C535296 {source="MONDO:equivalentTo"} xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="Orphanet:96167/e"} @@ -154635,7 +156177,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008367 name: red cell phospholipid defect with hemolysis -subset: gard_rare {source="GARD:0010013"} synonym: "high Red cell phosphatidylcholine hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [OMIM:179700] synonym: "HPCHA" RELATED ABBREVIATION [GARD:0010013] @@ -154652,6 +156193,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10013/red-ce id: MONDO:0008368 name: autosomal dominant distal renal tubular acidosis def: "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." [Orphanet:93608] +subset: gard_rare {source="GARD:4668"} subset: ordo_clinical_subtype {source="Orphanet:93608"} synonym: "AD dRTA" EXACT [Orphanet:93608] synonym: "autosomal dominant distal renal tubular acidosis (disease)" EXACT [] @@ -154663,6 +156205,7 @@ synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [OMIM:1798 synonym: "RTA, classic type" RELATED [OMIM:179800] synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800] synonym: "RTA, gradient type" RELATED [OMIM:179800] +xref: GARD:4668 {source="Orphanet:93608"} xref: ICD10CM:N25.8 {source="Orphanet:93608", source="Orphanet:93608/attributed", source="Orphanet:93608/ntbt"} xref: MESH:C538565 {source="Orphanet:93608", source="Orphanet:93608/e"} xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="Orphanet:93608/e"} @@ -154681,6 +156224,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008369 name: proximal renal tubular acidosis def: "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." [Orphanet:47159] +subset: gard_rare {source="GARD:16644"} subset: ordo_disease {source="Orphanet:47159"} synonym: "pRTA" EXACT [Orphanet:47159] synonym: "renal tubular acidosis 2" RELATED [OMIM:179830] @@ -154690,6 +156234,7 @@ synonym: "RTA, proximal type" RELATED [OMIM:179830] synonym: "RTA, rate type" RELATED [OMIM:179830] synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] +xref: GARD:16644 {source="Orphanet:47159"} xref: ICD10CM:N25.8 {source="Orphanet:47159/attributed", source="Orphanet:47159/ntbt", source="Orphanet:47159"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037080 {source="Orphanet:47159/e", source="Orphanet:47159"} @@ -154711,6 +156256,7 @@ replaced_by: MONDO:0009979 id: MONDO:0008371 name: Dowling-Degos disease def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [DOID:0060256, http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, http://ghr.nlm.nih.gov/condition/dowling-degos-disease] +subset: gard_rare {source="GARD:9775"} subset: ordo_disease {source="Orphanet:79145"} synonym: "dark dot disease" EXACT [DOID:0060256] synonym: "DDD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:179850] @@ -154719,6 +156265,7 @@ synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1, OMIM:179850] synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775] synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145] xref: DOID:0060256 {source="MONDO:equivalentTo"} +xref: GARD:9775 {source="Orphanet:79145"} xref: ICD10CM:L81.8 {source="Orphanet:79145/attributed", source="Orphanet:79145/ntbt", source="Orphanet:79145"} xref: MedDRA:10068651 {source="Orphanet:79145/e", source="Orphanet:79145"} xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"} @@ -154737,8 +156284,10 @@ property_value: confidence "1.323033492822967" xsd:double [Term] id: MONDO:0008372 name: retinal aplasia +subset: gard_rare {source="GARD:15109"} synonym: "amaurosis congenita" RELATED [OMIM:179900] synonym: "retinal aplasia" EXACT [OMIM:179900] +xref: GARD:15109 {source="OMIM:179900"} xref: MESH:C566720 {source="MONDO:equivalentTo"} xref: OMIM:179900 {source="MONDO:equivalentTo"} xref: Orphanet:65 {source="OMIM:179900"} @@ -154749,6 +156298,7 @@ property_value: confidence "0.30809469528042244" xsd:double [Term] id: MONDO:0008373 name: retinal arterial tortuosity +subset: gard_rare {source="GARD:16693"} subset: ordo_disease {source="Orphanet:75326"} synonym: "RATOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180000] synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous] @@ -154759,6 +156309,7 @@ synonym: "retinal haemorrhage with vascular tortuosity" EXACT OMO:0003005 [] synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326] synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326] xref: DOID:0111547 {source="MONDO:equivalentTo"} +xref: GARD:16693 {source="Orphanet:75326"} xref: HP:0001136 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q14.1 {source="Orphanet:75326/ntbt", source="Orphanet:75326/inclusion", source="Orphanet:75326"} xref: OMIM:180000 {source="Orphanet:75326", source="MONDO:equivalentTo", source="Orphanet:75326/e"} @@ -154772,6 +156323,7 @@ property_value: IAO:0000589 "retinal arterial tortuosity (disease)" xsd:string [Term] id: MONDO:0008374 name: retinal cone dystrophy type 1 +subset: gard_rare {source="GARD:3196"} synonym: "cone dystrophy autosomal dominant" RELATED [GARD:0003196] synonym: "cone dystrophy, autosomal dominant" RELATED [OMIM:180020] synonym: "RCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180020] @@ -154779,6 +156331,7 @@ synonym: "retinal cone Degeneration" RELATED [OMIM:180020] synonym: "retinal cone dystrophy 1" RELATED [MONDO:Lexical, OMIM:180020] synonym: "retinal cone dystrophy-1" EXACT [OMIM:180020, OMIM:genemap2] xref: DOID:0081024 {source="MONDO:equivalentTo"} +xref: GARD:3196 {source="OMIM:180020"} xref: MESH:C566719 {source="MONDO:equivalentTo"} xref: OMIM:180020 {source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="OMIM:180020"} @@ -154825,6 +156378,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008377 name: retinitis pigmentosa 1 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9149"} synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:268000] synonym: "retinitis pigmentosa 1" EXACT [MONDO:Lexical, OMIM:180100] synonym: "retinitis pigmentosa caused by mutation in RP1" EXACT [MONDO:design_pattern] @@ -154833,6 +156387,7 @@ synonym: "RP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268000] synonym: "RP1" EXACT ABBREVIATION [DOID:0110390, MONDO:Lexical, OMIM:180100] synonym: "RP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110390 {source="MONDO:equivalentTo"} +xref: GARD:9149 {source="OMIM:180100"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110390"} xref: MESH:C538365 {source="MONDO:equivalentTo"} xref: OMIM:180100 {source="DOID:0110390", source="MONDO:equivalentTo"} @@ -154849,7 +156404,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008378 name: retinitis pigmentosa 9 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010382"} +subset: gard_rare {source="GARD:10382"} synonym: "retinitis pigmentosa 9" EXACT [MONDO:Lexical, OMIM:180104] synonym: "retinitis pigmentosa caused by mutation in RP9" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 9" EXACT [DOID:0110387, MONDORULE:1, OMIM:180104] @@ -154857,6 +156412,7 @@ synonym: "RP 9" RELATED [GARD:0010382] synonym: "RP9" EXACT ABBREVIATION [DOID:0110387, MONDO:Lexical, OMIM:180104] synonym: "RP9 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110387 {source="MONDO:equivalentTo"} +xref: GARD:10382 {source="OMIM:180104"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110387"} xref: MESH:C566716 {source="MONDO:equivalentTo"} xref: OMIM:180104 {source="MONDO:equivalentTo", source="DOID:0110387"} @@ -154871,12 +156427,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10382/retini id: MONDO:0008379 name: retinitis pigmentosa 10 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15110"} synonym: "IMPDH1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 10" EXACT [MONDO:Lexical, OMIM:180105] synonym: "retinitis pigmentosa caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 10" EXACT [DOID:0110388, MONDORULE:2, OMIM:180105] synonym: "RP10" EXACT ABBREVIATION [DOID:0110388, MONDO:Lexical, OMIM:180105] xref: DOID:0110388 {source="MONDO:equivalentTo"} +xref: GARD:15110 {source="OMIM:180105"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110388"} xref: MESH:C566715 {source="MONDO:equivalentTo"} xref: OMIM:180105 {source="MONDO:equivalentTo", source="DOID:0110388"} @@ -154890,6 +156448,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008380 name: retinoblastoma def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C7541] +subset: gard_rare {source="GARD:7563"} subset: ordo_disease {source="Orphanet:790"} synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563] synonym: "neuroblastoma of retina" RELATED EXCLUDE [DOID:768] @@ -154900,6 +156459,7 @@ synonym: "RB1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541] xref: DOID:768 {source="MONDO:equivalentTo"} +xref: GARD:7563 {source="Orphanet:790"} xref: ICD10CM:C69.2 {source="Orphanet:790/e", source="Orphanet:790/specific", source="Orphanet:790"} xref: ICDO:9510/3 {source="NCIT:C7541"} xref: MedDRA:10038916 {source="Orphanet:790/e", source="Orphanet:790"} @@ -154931,8 +156491,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008381 name: dominant pericentral pigmentary retinopathy def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." [DOID:0110420, PMID:3618160] +subset: gard_rare {source="GARD:15111"} synonym: "retinopathy, pericentral pigmentary, dominant" RELATED [OMIM:180210] xref: DOID:0110420 {source="MONDO:equivalentTo"} +xref: GARD:15111 {source="OMIM:180210"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110420"} xref: MESH:C566713 {source="MONDO:equivalentTo"} xref: OMIM:180210 {source="MONDO:equivalentTo", source="DOID:0110420"} @@ -154944,7 +156506,6 @@ is_a: MONDO:0019200 {source="DOID:0110420", source="OMIM:180210"} ! retinitis pi id: MONDO:0008382 name: retinoschisis, autosomal dominant def: "Autosomal dominant form of retinoschisis." [MONDO:patterns/autosomal_dominant] -subset: gard_rare {source="GARD:0009144"} synonym: "autosomal dominant retinoschisis" EXACT [] synonym: "retinoschisis autosomal dominant" RELATED [GARD:0009144] synonym: "retinoschisis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:180270] @@ -154999,7 +156560,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008384 name: rheumatoid nodulosis def: "A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules." [PMID:17041479] -subset: gard_rare {source="GARD:0009625"} synonym: "accelerated rheumatoid nodulosis" EXACT [ISBN-13:978-1-4160-2999-1, Wikipedia:Rheumatoid_nodulosis] synonym: "rheumatoid nodulosis" EXACT [OMIM:180350] xref: MESH:D012218 {source="MONDO:equivalentTo"} @@ -155026,6 +156586,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008386 name: Axenfeld-Rieger syndrome type 1 def: "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." [NCIT:C75015] +subset: gard_rare {source="GARD:10281"} synonym: "Axenfeld-Rieger syndrome caused by mutation in PITX2" EXACT [MONDO:design_pattern] synonym: "Axenfeld-Rieger syndrome type 1" EXACT CLINGEN_PREFERRED [] synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical, OMIM:180500] @@ -155036,6 +156597,7 @@ synonym: "RIEG1" EXACT ABBREVIATION [DOID:0110120, MONDO:Lexical, OMIM:180500] synonym: "Rieger syndrome type 1" EXACT [DOID:0110120] synonym: "Rieger syndrome, type 1" RELATED [OMIM:180500] xref: DOID:0110120 {source="MONDO:equivalentTo"} +xref: GARD:10281 {source="OMIM:180500"} xref: ICD10CM:Q13.8 {source="DOID:0110120"} xref: NCIT:C75015 {source="MONDO:equivalentTo"} xref: OMIM:180500 {source="MONDO:equivalentTo", source="DOID:0110120"} @@ -155052,7 +156614,7 @@ property_value: confidence "0.9131875999999999" xsd:double id: MONDO:0008387 name: ring dermoid of cornea def: "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." [Orphanet:91481] -subset: gard_rare {source="GARD:0009696"} +subset: gard_rare {source="GARD:9696"} subset: ordo_disease {source="Orphanet:91481"} synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" RELATED [GARD:0009696] synonym: "RDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180550] @@ -155060,6 +156622,7 @@ synonym: "RING dermoid of cornea" RELATED [OMIM:180550] synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550] synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481] xref: DOID:0111548 {source="MONDO:equivalentTo"} +xref: GARD:9696 {source="Orphanet:91481"} xref: ICD10CM:D31.1 {source="Orphanet:91481", source="Orphanet:91481/ntbt"} xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} @@ -155076,9 +156639,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9696/ring-de id: MONDO:0008388 name: ringed hair disease def: "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." [Orphanet:169] +subset: gard_rare {source="GARD:4359"} subset: ordo_disease {source="Orphanet:169"} synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169] synonym: "ringed hair" RELATED [OMIM:180600] +xref: GARD:4359 {source="Orphanet:169"} xref: ICD10CM:Q84.1 {source="Orphanet:169", source="Orphanet:169/index", source="Orphanet:169/ntbt"} xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} @@ -155092,10 +156657,12 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0008389 name: autosomal dominant Robinow syndrome def: "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:3107] +subset: gard_rare {source="GARD:16620"} subset: ordo_clinical_subtype {source="Orphanet:3107"} synonym: "autosomal dominant Robinow syndrome" EXACT CLINGEN_PREFERRED [Orphanet:3107] synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] +xref: GARD:16620 {source="Orphanet:3107"} xref: ICD10CM:Q87.1 {source="Orphanet:3107", source="DOID:0060766", source="Orphanet:3107/attributed", source="Orphanet:3107/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"} @@ -155112,10 +156679,11 @@ property_value: confidence "1.1186562500000017" xsd:double id: MONDO:0008390 name: Rombo syndrome def: "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." [Orphanet:3110] -subset: gard_rare {source="GARD:0004738"} +subset: gard_rare {source="GARD:4738"} subset: ordo_disease {source="Orphanet:3110"} synonym: "Rombo syndrome" EXACT [OMIM:180730] synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738] +xref: GARD:4738 {source="Orphanet:3110"} xref: ICD10CM:L98.8 {source="Orphanet:3110/attributed", source="Orphanet:3110/ntbt", source="Orphanet:3110"} xref: MESH:C535870 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} xref: OMIM:180730 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} @@ -155133,9 +156701,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4738/rombo-s [Term] id: MONDO:0008391 name: Robinow-Sorauf syndrome +subset: gard_rare {source="GARD:4730"} synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [OMIM:180750] synonym: "craniosynostosis-bifid hallux syndrome" RELATED [OMIM:180750] synonym: "Robinow-Sorauf syndrome" EXACT [OMIM:180750] +xref: GARD:4730 {source="OMIM:180750"} xref: MESH:C537183 {source="MONDO:equivalentTo"} xref: OMIM:180750 {source="MONDO:equivalentTo"} xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentObsolete"} @@ -155147,6 +156717,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008392 name: Roussy-Levy syndrome +subset: gard_rare {source="GARD:4741"} subset: ordo_disease {source="Orphanet:3115"} synonym: "Charcot-Marie-Tooth disease (variant)" RELATED [GARD:0004741] synonym: "Charcot-Marie-Tooth-Roussy-levy disease" RELATED [GARD:0004741] @@ -155161,6 +156732,7 @@ synonym: "Roussy-levy disease" RELATED [GARD:0004741] synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800] synonym: "Roussy-levy syndrome" EXACT [OMIM:180800] synonym: "Roussy-Lévy syndrome" RELATED [Orphanet:3115] +xref: GARD:4741 {source="Orphanet:3115"} xref: ICD10CM:G60.0 {source="Orphanet:3115/attributed", source="Orphanet:3115/ntbt", source="Orphanet:3115"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:180800 {source="Orphanet:3115", source="MONDO:equivalentTo", source="Orphanet:3115/e"} @@ -155177,6 +156749,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008393 name: Rubinstein-Taybi syndrome due to CREBBP mutations def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17534"} subset: ordo_clinical_subtype {source="Orphanet:353277"} synonym: "broad thumb-hallux syndrome" RELATED [OMIM:180849] synonym: "broad thumbs and great toes, characteristic facies, and intellectual disability" RELATED [OMIM:180849] @@ -155189,6 +156762,7 @@ synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849] synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT [] synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT CLINGEN_PREFERRED [] synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849] +xref: GARD:17534 {source="Orphanet:353277"} xref: ICD10CM:Q87.2 {source="Orphanet:353277", source="Orphanet:353277/attributed", source="Orphanet:353277/ntbt"} xref: NCIT:C153290 {source="MONDO:equivalentTo"} xref: OMIM:180849 {source="Orphanet:353277", source="MONDO:equivalentTo", source="Orphanet:353277/e"} @@ -155207,6 +156781,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008394 name: Silver-Russell syndrome def: "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." [Orphanet:813] +subset: gard_rare {source="GARD:4870"} subset: ordo_disease {source="Orphanet:813"} synonym: "Russell Silver syndrome" EXACT [GARD:0004870] synonym: "Russell-Silver dwarfism" EXACT [NCIT:C85068] @@ -155217,6 +156792,7 @@ synonym: "Silver-Russell dwarfism" EXACT [OMIM:180860, Orphanet:813] synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860] synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860] xref: DOID:14681 {source="MONDO:equivalentTo"} +xref: GARD:4870 {source="Orphanet:813"} xref: ICD10CM:Q87.1 {source="Orphanet:813/inclusion", source="DOID:14681", source="Orphanet:813", source="Orphanet:813/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062282 {source="Orphanet:813", source="Orphanet:813/e"} @@ -155237,9 +156813,10 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:180860"} ! inheri id: MONDO:0008395 name: Ruvalcaba syndrome def: "An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." [Orphanet:3121] -subset: gard_rare {source="GARD:0004748"} +subset: gard_rare {source="GARD:4748"} subset: ordo_malformation_syndrome {source="Orphanet:3121"} synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870] +xref: GARD:4748 {source="Orphanet:3121"} xref: ICD10CM:Q87.8 {source="Orphanet:3121/attributed", source="Orphanet:3121/ntbt", source="Orphanet:3121"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579395 {source="MONDO:equivalentTo"} @@ -155257,7 +156834,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4748/ruvalca id: MONDO:0008396 name: oculodental syndrome, Rutherfurd type def: "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." [Orphanet:2709] -subset: gard_rare +subset: gard_rare {source="GARD:212"} subset: ordo_malformation_syndrome {source="Orphanet:2709"} synonym: "corneal dystrophy with gum Hypertrophy" EXACT [OMIM:180900] synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212] @@ -155265,6 +156842,7 @@ synonym: "gingival hypertrophy corneal dystrophy" EXACT [GARD:0000212] synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900] synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709] synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709] +xref: GARD:212 {source="Orphanet:2709"} xref: ICD10CM:Q87.8 {source="Orphanet:2709", source="Orphanet:2709/attributed", source="Orphanet:2709/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="Orphanet:2709/e"} @@ -155283,6 +156861,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008397 name: aplasia of lacrimal and salivary glands def: "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." [Orphanet:86815] +subset: gard_rare {source="GARD:16759"} subset: ordo_disease {source="Orphanet:86815"} synonym: "ALSG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180920, Orphanet:86815] synonym: "aplasia of lacrimal and salivary glands" EXACT [MONDO:Lexical, OMIM:180920] @@ -155291,6 +156870,7 @@ synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920] synonym: "salivary glands, absence of" RELATED [OMIM:180920] synonym: "salivary glands, absence of, include" RELATED [OMIM:180920] xref: DOID:0111549 {source="MONDO:equivalentTo"} +xref: GARD:16759 {source="Orphanet:86815"} xref: ICD10CM:Q10.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"} xref: ICD10CM:Q38.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"} xref: OMIM:180920 {source="Orphanet:86815/e", source="MONDO:equivalentTo", source="Orphanet:86815"} @@ -155316,6 +156896,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008399 name: sarcoidosis, susceptibility to, 1 def: "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18594"} subset: predisposition synonym: "Boeck sarcoid" RELATED [OMIM:181000] synonym: "HLA-DRB1 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -155325,6 +156906,7 @@ synonym: "sarcoidosis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:181000] synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:181000] synonym: "SS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181000] synonym: "susceptibility to sarcoidosis 1" RELATED [OMIM:181000] +xref: GARD:18594 {source="OMIM:181000"} xref: ICD9:135 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:181000 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:181000"} @@ -155351,6 +156933,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008401 name: pleomorphic adenoma def: "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." [NCIT:P378] +subset: gard_rare {source="GARD:17789"} subset: ordo_histopathological_subtype {source="Orphanet:454821"} synonym: "adenomas, salivary gland pleomorphic, somatic" EXACT [OMIM:181030, OMIM:genemap2] synonym: "mixed tumor of the salivary gland" RELATED [DOID:452, NCIT:C35691] @@ -155364,6 +156947,7 @@ synonym: "Sgpa" RELATED [OMIM:181030] synonym: "tumor, mixed, benign" EXACT [NCIT:C8602] xref: DOID:452 {source="MONDO:equivalentTo"} xref: EFO:1000384 {source="MONDO:equivalentTo"} +xref: GARD:17789 {source="Orphanet:454821"} xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:454821", source="Orphanet:454821/ntbt"} xref: ICDO:8940/0 {source="NCIT:C8602"} xref: MESH:D008949 {source="MONDO:equivalentTo", source="DOID:452"} @@ -155386,13 +156970,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008402 name: cleft palate-large ears-small head syndrome def: "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." [Orphanet:2013] -subset: gard_rare +subset: gard_rare {source="GARD:162"} subset: ordo_malformation_syndrome {source="Orphanet:2013"} synonym: "cleft palate large ears small head" RELATED [GARD:0000162] synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162, OMIM:181180] synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162] synonym: "SAY syndrome" RELATED [OMIM:181180] synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013] +xref: GARD:162 {source="Orphanet:2013"} xref: ICD10CM:Q87.8 {source="Orphanet:2013/attributed", source="Orphanet:2013/ntbt", source="Orphanet:2013"} xref: MESH:C536621 {source="MONDO:equivalentTo"} xref: OMIM:181180 {source="Orphanet:2013", source="MONDO:equivalentTo", source="Orphanet:2013/e", source="GARD:0000162"} @@ -155406,10 +156991,12 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008403 name: scalp defects-postaxial polydactyly syndrome def: "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." [Orphanet:1003] +subset: gard_rare {source="GARD:241"} subset: ordo_malformation_syndrome {source="Orphanet:1003"} synonym: "congenital scalp defects associated with postaxial polydactyly" RELATED [GARD:0000241] synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250] synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241] +xref: GARD:241 {source="Orphanet:1003"} xref: ICD10CM:Q87.2 {source="Orphanet:1003/attributed", source="Orphanet:1003/ntbt", source="Orphanet:1003"} xref: MESH:C536622 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} xref: OMIM:181250 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} @@ -155428,7 +157015,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008404 name: scalp-ear-nipple syndrome def: "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." [Orphanet:2036] -subset: gard_rare +subset: gard_rare {source="GARD:159"} subset: ordo_malformation_syndrome {source="Orphanet:2036"} synonym: "Finlay-Marks syndrome" EXACT [GARD:0000159, OMIM:181270, Orphanet:2036] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" RELATED [GARD:0000159] @@ -155438,6 +157025,7 @@ synonym: "scalp-ear-nipple syndrome" EXACT [GARD:0000159, MONDO:Lexical, OMIM:18 synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270] synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270] xref: DOID:0111550 {source="MONDO:equivalentTo"} +xref: GARD:159 {source="Orphanet:2036"} xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="Orphanet:2036/attributed", source="Orphanet:2036/ntbt"} xref: MESH:C536623 {source="Orphanet:2036", source="MONDO:equivalentTo", source="Orphanet:2036/e"} xref: OMIM:181270 {source="Orphanet:2036", source="MONDO:equivalentTo", source="GARD:0000159", source="Orphanet:2036/e"} @@ -155465,8 +157053,10 @@ is_obsolete: true id: MONDO:0008406 name: obsolete autosomal recessive Emery-Dreifuss muscular dystrophy def: "OBSOLETE. Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:16866"} synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855] synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:16866 {source="MONDO:obsoleteEquivalent", source="Orphanet:98855"} xref: ICD10CM:G71.0 {source="Orphanet:98855/attributed", source="Orphanet:98855/ntbt", source="Orphanet:98855"} xref: MESH:D020389 {source="Orphanet:98855", source="Orphanet:98855/e"} xref: Orphanet:98855 {source="MONDO:obsoleteEquivalent"} @@ -155483,7 +157073,7 @@ is_obsolete: true [Term] id: MONDO:0008407 name: neurogenic scapuloperoneal syndrome, Kaeser type -subset: gard_rare {source="GARD:0010312"} +subset: gard_rare {source="GARD:10312"} subset: ordo_disease {source="Orphanet:85146"} synonym: "Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [OMIM:181400] @@ -155491,6 +157081,7 @@ synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexi synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181400] synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] xref: DOID:0111551 {source="MONDO:equivalentTo"} +xref: GARD:10312 {source="Orphanet:85146"} xref: ICD10CM:G12.1 {source="Orphanet:85146/ntbt", source="Orphanet:85146", source="Orphanet:85146/inclusion"} xref: MESH:C566695 {source="MONDO:equivalentTo"} xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="Orphanet:85146/e"} @@ -155505,6 +157096,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10312/scapul [Term] id: MONDO:0008408 name: scapuloperoneal spinal muscular atrophy, autosomal dominant +subset: gard_rare {source="GARD:10314"} subset: ordo_disease {source="Orphanet:431255"} synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [OMIM:181405] synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [Orphanet:431255] @@ -155513,6 +157105,7 @@ synonym: "scapuloperoneal spinal muscular atrophy" EXACT [MONDO:Lexical, OMIM:18 synonym: "SPSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181405, Orphanet:431255] xref: DOID:0111552 {source="MONDO:equivalentTo"} xref: EFO:1001992 {source="MONDO:equivalentTo"} +xref: GARD:10314 {source="Orphanet:431255"} xref: ICD10CM:G12.1 {source="Orphanet:431255/ntbt", source="Orphanet:431255", source="Orphanet:431255/inclusion"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:181405 {source="Orphanet:431255", source="MONDO:equivalentTo", source="Orphanet:431255/e"} @@ -155527,6 +157120,7 @@ property_value: confidence "0.16666666666666674" xsd:double [Term] id: MONDO:0008409 name: congenital myopathy 7A, myosin storage, autosomal dominant +subset: gard_rare {source="GARD:15429"} subset: ordo_disease {source="Orphanet:437572"} synonym: "autosomal dominant myosin storage myopathy" EXACT [Orphanet:636965] synonym: "MSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608358] @@ -155543,6 +157137,7 @@ synonym: "scapuloperoneal syndrome, myopathic type" EXACT [OMIM:181430] synonym: "SPMD" EXACT ABBREVIATION [GARD:0010313] synonym: "SPMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181430] xref: DOID:0111269 {source="MONDO:equivalentTo"} +xref: GARD:15429 {source="OMIM:608358"} xref: ICD10CM:G71.0 {source="Orphanet:437572/attributed", source="Orphanet:437572/ntbt", source="Orphanet:437572"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564253 {source="MONDO:equivalentTo"} @@ -155612,7 +157207,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008411 name: ulnar-mammary syndrome def: "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." [Orphanet:3138] -subset: gard_rare {source="GARD:0000118"} +subset: gard_rare {source="GARD:118"} subset: ordo_malformation_syndrome {source="Orphanet:3138"} synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, Orphanet:3138] synonym: "Schinzel syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138] @@ -155620,6 +157215,7 @@ synonym: "ulnar-mammary syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:1 synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118] synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138] xref: DOID:0060614 {source="MONDO:equivalentTo"} +xref: GARD:118 {source="Orphanet:3138"} xref: ICD10CM:Q71.8 {source="Orphanet:3138/attributed", source="Orphanet:3138/ntbt", source="Orphanet:3138", source="DOID:0060614"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536937 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} @@ -155707,7 +157303,7 @@ replaced_by: MONDO:0010505 [Term] id: MONDO:0008416 name: palmoplantar keratoderma-sclerodactyly syndrome -subset: gard_rare {source="GARD:0008517"} +subset: gard_rare {source="GARD:8517"} subset: ordo_disease {source="Orphanet:384"} synonym: "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" RELATED [GARD:0008517] synonym: "HRZ" RELATED ABBREVIATION [GARD:0008517, OMIM:181600] @@ -155719,6 +157315,7 @@ synonym: "Scleroatrophic syndrome" EXACT [Orphanet:384] synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [OMIM:181600] synonym: "Sclerotylosis" EXACT [Orphanet:384] synonym: "Tys" RELATED [OMIM:181600] +xref: GARD:8517 {source="Orphanet:384"} xref: ICD10CM:Q82.8 {source="Orphanet:384", source="Orphanet:384/attributed", source="Orphanet:384/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537526 {source="MONDO:equivalentTo"} @@ -155806,11 +157403,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008421 name: flat face-microstomia-ear anomaly syndrome def: "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." [Orphanet:1968] +subset: gard_rare {source="GARD:4873"} subset: ordo_malformation_syndrome {source="Orphanet:1968"} synonym: "blepharophimosis-telecanthus-microstomia syndrome" EXACT [Orphanet:1968] synonym: "Simosa cranio facial syndrome" RELATED [GARD:0004873] synonym: "SIMOSA craniofacial syndrome" RELATED [OMIM:182150] synonym: "Simosa-Penchaszadeh-Bustos syndrome" EXACT [Orphanet:1968] +xref: GARD:4873 {source="Orphanet:1968"} xref: ICD10CM:Q87.0 {source="Orphanet:1968/attributed", source="Orphanet:1968/ntbt", source="Orphanet:1968"} xref: MESH:C537339 {source="MONDO:equivalentTo"} xref: OMIM:182150 {source="Orphanet:1968/e", source="MONDO:equivalentTo", source="Orphanet:1968"} @@ -155825,11 +157424,13 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008422 name: autosomal dominant sideroblastic anemia def: "Autosomal dominant form of sideroblastic anemia." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:18380"} synonym: "anemia, sideroblastic, 4" RELATED [OMIM:182170] synonym: "anemia, sideroblastic, autosomal dominant" RELATED [OMIM:182170] synonym: "SIDBA4" RELATED ABBREVIATION [OMIM:182170] synonym: "sideroblastic anemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0060335 {source="MONDO:equivalentTo"} +xref: GARD:18380 {source="OMIM:182170"} xref: MESH:C567160 {source="MONDO:equivalentTo"} xref: OMIM:182170 {source="MONDO:equivalentTo", source="DOID:0060335"} xref: UMLS:C2674249 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182170"} @@ -155842,10 +157443,11 @@ property_value: confidence "0.04575163398692794" xsd:double [Term] id: MONDO:0008423 name: sinus node disease and myopia -subset: gard_rare {source="GARD:0004880"} +subset: gard_rare {source="GARD:4880"} synonym: "sick sinus syndrome and myopia" RELATED [OMIM:182190] synonym: "sinus node disease and myopia" EXACT [OMIM:182190] synonym: "Sss-myopia syndrome" RELATED [OMIM:182190] +xref: GARD:4880 {source="OMIM:182190"} xref: MESH:C566690 {source="MONDO:equivalentTo"} xref: OMIM:182190 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="OMIM:182190"} @@ -155867,6 +157469,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008425 name: omphalocele syndrome, Shprintzen-Goldberg type def: "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." [Orphanet:3164] +subset: gard_rare {source="GARD:9850"} subset: ordo_malformation_syndrome {source="Orphanet:3164"} synonym: "laryngeal and pharyngeal hypoplasia with omphalocele" RELATED [GARD:0009850] synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [OMIM:182210] @@ -155874,6 +157477,7 @@ synonym: "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilitie synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210] synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210] synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850] +xref: GARD:9850 {source="Orphanet:3164"} xref: ICD10CM:Q79.2 {source="Orphanet:3164/attributed", source="Orphanet:3164/ntbt", source="Orphanet:3164"} xref: MESH:C537329 {source="MONDO:equivalentTo"} xref: OMIM:182210 {source="Orphanet:3164/e", source="MONDO:equivalentTo", source="Orphanet:3164"} @@ -155891,6 +157495,7 @@ id: MONDO:0008426 name: Shprintzen-Goldberg syndrome def: "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." [Orphanet:2462] subset: clingen +subset: gard_rare {source="GARD:4861"} subset: ordo_malformation_syndrome {source="Orphanet:2462"} synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [OMIM:182212] synonym: "Marfanoid craniosynostosis syndrome" EXACT [OMIM:182212, Orphanet:2462] @@ -155901,6 +157506,7 @@ synonym: "SGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182212, Orphanet:2462] synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, OMIM:182212] synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861] synonym: "Shprintzen-Goldberg syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:4861 {source="Orphanet:2462"} xref: ICD10CM:Q87.8 {source="Orphanet:2462", source="Orphanet:2462/attributed", source="Orphanet:2462/ntbt"} xref: MESH:C537328 {source="Orphanet:2462", source="Orphanet:2462/e"} xref: NCIT:C124840 {source="MONDO:equivalentTo"} @@ -155935,6 +157541,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008428 name: septooptic dysplasia def: "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." [Orphanet:3157] +subset: gard_rare {source="GARD:7627", source="GARD:16519"} subset: ordo_malformation_syndrome {source="Orphanet:3157"} synonym: "De Morsier syndrome" EXACT [DOID:0060857, OMIM:182230, Orphanet:3157] synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [OMIM:182230] @@ -155947,6 +157554,8 @@ synonym: "septo-optic dysplasia with growth hormone deficiency" RELATED [GARD:00 synonym: "septooptic dysplasia" EXACT [OMIM:182230] synonym: "SOD" EXACT ABBREVIATION [DOID:0060857, Orphanet:3157] xref: DOID:0060857 {source="MONDO:equivalentTo"} +xref: GARD:16519 {source="OMIM:182230"} +xref: GARD:7627 {source="Orphanet:3157"} xref: ICD10CM:Q04.8 {source="Orphanet:3157/attributed", source="Orphanet:3157/ntbt", source="Orphanet:3157", source="DOID:0060857"} xref: MedDRA:10067159 {source="Orphanet:3157", source="Orphanet:3157/e"} xref: MESH:D025962 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"} @@ -155975,7 +157584,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 id: MONDO:0008429 name: Singleton-Merten dysplasia def: "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." [Orphanet:85191] -subset: gard_rare +subset: gard_rare {source="GARD:122"} subset: ordo_malformation_syndrome {source="Orphanet:85191"} synonym: "Merten-Singleton syndrome" RELATED [GARD:0000122] synonym: "SGMRT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182250] @@ -155984,6 +157593,7 @@ synonym: "Singleton-Merten syndrome" EXACT [Orphanet:85191] synonym: "SM syndrome" RELATED [GARD:0000122] synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122] synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122] +xref: GARD:122 {source="Orphanet:85191"} xref: ICD10CM:Q78.8 {source="Orphanet:85191", source="Orphanet:85191/attributed", source="Orphanet:85191/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537343 {source="MONDO:equivalentTo"} @@ -156034,6 +157644,7 @@ is_obsolete: true id: MONDO:0008433 name: small cell lung carcinoma def: "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." [Orphanet:70573] +subset: gard_rare {source="GARD:9344"} subset: ordo_disease {source="Orphanet:70573"} synonym: "lung oat cell carcinoma" EXACT [NCIT:C4917] synonym: "lung small cell carcinoma" EXACT [MONDO:patterns/location] @@ -156058,6 +157669,7 @@ xref: DOID:0050685 {source="EFO:0000702"} xref: DOID:5409 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000702"} xref: DOID:5411 {source="MONDO:equivalentTo"} xref: EFO:0000702 {source="MONDO:equivalentTo"} +xref: GARD:9344 {source="Orphanet:70573"} xref: ICD10CM:C34.9 {source="Orphanet:70573/ntbt", source="Orphanet:70573"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018288 {source="DOID:5411"} @@ -156087,6 +157699,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008434 name: Smith-Magenis syndrome def: "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." [Orphanet:819] +subset: gard_rare {source="GARD:8197"} subset: ordo_malformation_syndrome {source="Orphanet:819"} synonym: "17p11.2 microdeletion syndrome" EXACT [DOID:0060768, Orphanet:819] synonym: "chromosome 17P11.2 deletion syndrome" RELATED [OMIM:182290] @@ -156099,6 +157712,7 @@ synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [OMIM:182290, OMIM:genem synonym: "SMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182290] xref: DECIPHER:8 {source="MONDO:equivalentTo"} xref: DOID:0060768 {source="MONDO:equivalentTo"} +xref: GARD:8197 {source="Orphanet:819"} xref: ICD10CM:Q93.5 {source="Orphanet:819/attributed", source="Orphanet:819/ntbt", source="DOID:0060768", source="Orphanet:819"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058496 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="Orphanet:819"} @@ -156133,7 +157747,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008436 name: Sneddon syndrome def: "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." [Orphanet:820] -subset: gard_rare {source="GARD:0007664"} +subset: gard_rare {source="GARD:7664"} subset: ordo_disease {source="Orphanet:820"} synonym: "cerebro-vascular lesions and livedo reticularis" RELATED [GARD:0007664] synonym: "Ehrmann-Sneddon syndrome" EXACT [Orphanet:820] @@ -156146,6 +157760,7 @@ synonym: "Sneddon syndrome" EXACT [OMIM:182410] synonym: "Sneddon's syndrome" RELATED [GARD:0007664] xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"} xref: EFO:1001186 {source="MONDO:equivalentTo"} +xref: GARD:7664 {source="Orphanet:820"} xref: ICD10CM:I77.8 {source="Orphanet:820/attributed", source="Orphanet:820/ntbt", source="Orphanet:820"} xref: MedDRA:10053841 {source="Orphanet:820", source="Orphanet:820/e"} xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} @@ -156167,6 +157782,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7664/sneddon id: MONDO:0008437 name: hereditary spastic paraplegia 3A def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:5041"} subset: ordo_disease {source="Orphanet:100984"} synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791] @@ -156186,6 +157802,7 @@ synonym: "Strumpell disease" RELATED [OMIM:182600] synonym: "strumpell disease" EXACT [DOID:0110791] synonym: "Strümpell disease" EXACT [Orphanet:100984] xref: DOID:0110791 {source="MONDO:equivalentTo"} +xref: GARD:5041 {source="Orphanet:100984"} xref: ICD10CM:G11.4 {source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/attributed", source="Orphanet:100984/ntbt"} xref: MESH:C536864 {source="MONDO:equivalentTo", source="Orphanet:100984", source="Orphanet:100984/e"} xref: NCIT:C142893 {source="MONDO:equivalentTo"} @@ -156203,6 +157820,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008438 name: hereditary spastic paraplegia 4 def: "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." [Orphanet:100985] +subset: gard_rare {source="GARD:4925"} subset: ordo_disease {source="Orphanet:100985"} synonym: "autosomal dominant spastic paraplegia 4" EXACT [DOID:0110792] synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792] @@ -156217,6 +157835,7 @@ synonym: "spastic paraplegia 4" RELATED [GARD:0004925] synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601] synonym: "SPG4" EXACT ABBREVIATION [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985] xref: DOID:0110792 {source="MONDO:equivalentTo"} +xref: GARD:4925 {source="Orphanet:100985"} xref: ICD10CM:G11.4 {source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/attributed", source="Orphanet:100985/ntbt"} xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="Orphanet:100985/e"} xref: NCIT:C129981 {source="MONDO:equivalentTo"} @@ -156260,7 +157879,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008440 name: spastic paraplegia-nephritis-deafness syndrome def: "This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." [Orphanet:2820] -subset: gard_rare +subset: gard_rare {source="GARD:2342"} subset: ordo_clinical_syndrome {source="Orphanet:2820"} synonym: "Fitzsimmons Walson Mellor syndrome" RELATED [GARD:0002342] synonym: "Fitzsimmons-Walson-Mellor syndrome" EXACT [Orphanet:2820] @@ -156268,6 +157887,7 @@ synonym: "spastic paraplegia - nephritis - deafness" RELATED [GARD:0002342] synonym: "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy" RELATED [GARD:0002342] synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy" RELATED [OMIM:182690] synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [OMIM:182690] +xref: GARD:2342 {source="Orphanet:2820"} xref: MESH:C537937 {source="MONDO:equivalentTo"} xref: OMIM:182690 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"} xref: Orphanet:2820 {source="GARD:0002342", source="MONDO:equivalentTo", source="OMIM:182690"} @@ -156292,11 +157912,13 @@ is_a: MONDO:0003847 {source="MESH:C566681/inferred"} ! hereditary disease id: MONDO:0008442 name: spastic paraplegia-neuropathy-poikiloderma syndrome def: "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." [Orphanet:2821] +subset: gard_rare {source="GARD:4921"} subset: ordo_disease {source="Orphanet:2821"} synonym: "Antinolo-Nieto-Borrego syndrome" EXACT [Orphanet:2821] synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815] +xref: GARD:4921 {source="Orphanet:2821"} xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} xref: Orphanet:2821 {source="MONDO:equivalentTo", source="OMIM:182815"} @@ -156308,11 +157930,13 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0008443 name: spastic paraplegia-precocious puberty syndrome def: "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." [Orphanet:2826] +subset: gard_rare {source="GARD:4918"} subset: ordo_disease {source="Orphanet:2826"} synonym: "familial spastic paraplegia, intellectual disability, and precocious puberty" RELATED [GARD:0004918] synonym: "familial spastic paraplegia, mental retardation, and precocious puberty" RELATED DEPRECATED [GARD:0004918] synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820] synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820] +xref: GARD:4918 {source="Orphanet:2826"} xref: MESH:C536874 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} xref: OMIM:182820 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} xref: Orphanet:2826 {source="OMIM:182820", source="MONDO:equivalentTo"} @@ -156334,10 +157958,12 @@ is_a: MONDO:0003847 {source="MESH:C566679/inferred"} ! hereditary disease id: MONDO:0008445 name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome def: "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." [Orphanet:3038] +subset: gard_rare {source="GARD:3449"} subset: ordo_malformation_syndrome {source="Orphanet:3038"} synonym: "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" RELATED [GARD:0003449] synonym: "Mehes syndrome" EXACT [Orphanet:3038] synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875] +xref: GARD:3449 {source="Orphanet:3038"} xref: ICD10CM:Q87.0 {source="Orphanet:3038/attributed", source="Orphanet:3038/ntbt", source="Orphanet:3038"} xref: OMIM:182875 {source="Orphanet:3038", source="MONDO:equivalentTo", source="Orphanet:3038/e"} xref: Orphanet:3038 {source="OMIM:182875", source="MONDO:equivalentTo"} @@ -156384,6 +158010,7 @@ property_value: confidence "0.2777777777777777" xsd:double [Term] id: MONDO:0008448 name: obsolete spheroid body myopathy +xref: GARD:8711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6203" xsd:string is_obsolete: true @@ -156423,8 +158050,10 @@ property_value: IAO:0000589 "spina bifida (disease)" xsd:string id: MONDO:0008450 name: spinal arachnoiditis def: "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." [NCIT:C50749] +subset: gard_rare {source="GARD:15113"} synonym: "arachnoiditis, spinal" EXACT [NCIT:C50749] synonym: "spinal arachnoiditis" EXACT [OMIM:182950] +xref: GARD:15113 {source="OMIM:182950"} xref: MESH:C531624 {source="MONDO:equivalentTo"} xref: NCIT:C50749 {source="MONDO:equivalentTo"} xref: OMIM:182950 {source="MONDO:equivalentTo"} @@ -156438,6 +158067,7 @@ property_value: confidence "34.333333333333464" xsd:double id: MONDO:0008451 name: neuronopathy, distal hereditary motor, autosomal dominant 1 def: "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." [NCIT:C132826] +subset: gard_rare {source="GARD:16953"} subset: ordo_disease {source="Orphanet:139518"} synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [Orphanet:139518] synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [OMIM:182960] @@ -156451,6 +158081,7 @@ synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960] synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960] xref: DOID:0111200 {source="MONDO:equivalentTo"} +xref: GARD:16953 {source="Orphanet:139518"} xref: ICD10CM:G12.2 {source="Orphanet:139518", source="Orphanet:139518/attributed", source="Orphanet:139518/ntbt"} xref: MESH:C566675 {source="MONDO:equivalentTo"} xref: NCIT:C132826 {source="MONDO:equivalentTo"} @@ -156475,6 +158106,7 @@ is_a: MONDO:0001516 {source="DC-OMIM:182970", source="MESH:C566674"} ! spinal mu [Term] id: MONDO:0008453 name: adult-onset proximal spinal muscular atrophy, autosomal dominant +subset: gard_rare {source="GARD:17102"} subset: ordo_disease {source="Orphanet:209335"} synonym: "autosomal dominant adult-onset proximal SMA" EXACT [Orphanet:209335] synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [Orphanet:209335] @@ -156485,6 +158117,7 @@ synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980] xref: DOID:0111194 {source="MONDO:equivalentTo"} +xref: GARD:17102 {source="Orphanet:209335"} xref: ICD10CM:G12.1 {source="Orphanet:209335/attributed", source="Orphanet:209335/ntbt", source="Orphanet:209335"} xref: OMIM:182980 {source="Orphanet:209335/e", source="MONDO:equivalentTo", source="Orphanet:209335"} xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"} @@ -156501,9 +158134,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008454 name: spinal intradural arachnoid cysts def: "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." [https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts] -subset: gard_rare {source="GARD:0009701"} +subset: gard_rare {source="GARD:9701"} synonym: "arachnoid cysts, spinal intradural" RELATED [GARD:0009701] synonym: "spinal intradural arachnoid cysts" EXACT [OMIM:182990] +xref: GARD:9701 {source="OMIM:182990"} xref: MESH:C536878 {source="MONDO:equivalentTo"} xref: OMIM:182990 {source="MONDO:equivalentTo"} xref: Orphanet:2356 {source="OMIM:182990"} @@ -156534,7 +158168,7 @@ is_a: MONDO:0003847 {source="MESH:C566669/inferred"} ! hereditary disease id: MONDO:0008457 name: spinocerebellar ataxia type 6 def: "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." [Orphanet:98758] -subset: gard_rare {source="GARD:0010351"} +subset: gard_rare {source="GARD:10351"} subset: ordo_disease {source="Orphanet:98758"} synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -156542,6 +158176,7 @@ synonym: "SCA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183086, Orphanet:98758] synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086] synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086] xref: DOID:0050956 {source="MONDO:equivalentTo"} +xref: GARD:10351 {source="Orphanet:98758"} xref: ICD10CM:G11.2 {source="Orphanet:98758", source="Orphanet:98758/attributed", source="Orphanet:98758/ntbt"} xref: NCIT:C142838 {source="MONDO:equivalentTo"} xref: OMIM:183086 {source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956", source="Orphanet:98758/e"} @@ -156561,6 +158196,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10351/spinoc id: MONDO:0008458 name: spinocerebellar ataxia type 2 def: "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." [https://orcid.org/0000-0001-5208-3432, Orphanet:98756] +subset: gard_rare {source="GARD:4072"} subset: ordo_disease {source="Orphanet:98756"} subset: predisposition synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] @@ -156587,6 +158223,7 @@ synonym: "Wadia swami syndrome" RELATED [GARD:0004072] synonym: "Wadia-swami syndrome" RELATED [OMIM:183090] xref: DOID:0050955 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0060204 {source="MONDO:equivalentTo"} +xref: GARD:4072 {source="Orphanet:98756"} xref: ICD10CM:G11.2 {source="Orphanet:98756/attributed", source="Orphanet:98756/ntbt", source="Orphanet:98756"} xref: NCIT:C148315 {source="MONDO:equivalentTo"} xref: OMIM:183090 {source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955", source="Orphanet:98756/e"} @@ -156615,6 +158252,7 @@ is_a: MONDO:0003847 {source="MESH:C566668/inferred"} ! hereditary disease id: MONDO:0008460 name: splenogonadal fusion-limb defects-micrognathia syndrome def: "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." [Orphanet:2063] +subset: gard_rare {source="GARD:4963"} subset: ordo_malformation_syndrome {source="Orphanet:2063"} synonym: "SGFLD syndrome" EXACT [Orphanet:2063] synonym: "Sgfld syndrome" RELATED [OMIM:183300] @@ -156622,6 +158260,7 @@ synonym: "splenogonadal fusion limb defect syndrome" RELATED [OMIM:183300] synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963] synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963] synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300] +xref: GARD:4963 {source="Orphanet:2063"} xref: ICD10CM:Q87.8 {source="Orphanet:2063/attributed", source="Orphanet:2063/ntbt", source="Orphanet:2063"} xref: MESH:C537318 {source="MONDO:equivalentTo"} xref: OMIM:183300 {source="Orphanet:2063/e", source="MONDO:equivalentTo", source="Orphanet:2063"} @@ -156690,7 +158329,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008465 name: Patterson-Stevenson-Fontaine syndrome def: "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." [Orphanet:2439] -subset: gard_rare {source="GARD:0004260"} +subset: gard_rare {source="GARD:4260"} subset: ordo_malformation_syndrome {source="Orphanet:2439"} synonym: "Patterson Stevenson Fontaine syndrome" RELATED [GARD:0004260] synonym: "Patterson-Stevenson syndrome" EXACT [Orphanet:2439] @@ -156698,6 +158337,7 @@ synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700] synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orphanet:2439] synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260] synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700] +xref: GARD:4260 {source="Orphanet:2439"} xref: ICD10CM:Q87.0 {source="Orphanet:2439/attributed", source="Orphanet:2439/ntbt", source="Orphanet:2439"} xref: OMIM:183700 {source="Orphanet:2439/e", source="MONDO:equivalentTo", source="Orphanet:2439"} xref: Orphanet:2439 {source="OMIM:183700", source="MONDO:equivalentTo"} @@ -156712,6 +158352,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4260/patters id: MONDO:0008466 name: Karsch-Neugebauer syndrome def: "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." [Orphanet:2329] +subset: gard_rare {source="GARD:4967"} subset: ordo_malformation_syndrome {source="Orphanet:2329"} synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800] synonym: "KNS" RELATED ABBREVIATION [GARD:0004967] @@ -156720,6 +158361,7 @@ synonym: "split hand nystagmus syndrome" RELATED [GARD:0004967] synonym: "split hand split foot nystagmus" RELATED [GARD:0004967] synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329] synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800] +xref: GARD:4967 {source="Orphanet:2329"} xref: ICD10CM:Q87.2 {source="Orphanet:2329/attributed", source="Orphanet:2329/ntbt", source="Orphanet:2329"} xref: MESH:C537319 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} xref: OMIM:183800 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} @@ -156736,11 +158378,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008467 name: Czeizel-Losonci syndrome def: "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." [Orphanet:2437] +subset: gard_rare {source="GARD:4969"} subset: ordo_malformation_syndrome {source="Orphanet:2437"} synonym: "split hand urinary anomalies spina bifida" RELATED [GARD:0004969] synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" EXACT [Orphanet:2437] synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437] synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802] +xref: GARD:4969 {source="Orphanet:2437"} xref: ICD10CM:Q87.8 {source="Orphanet:2437", source="Orphanet:2437/attributed", source="Orphanet:2437/ntbt"} xref: MESH:C566662 {source="MONDO:equivalentTo"} xref: OMIM:183802 {source="MONDO:equivalentTo", source="Orphanet:2437", source="Orphanet:2437/e"} @@ -156771,10 +158415,12 @@ is_a: MONDO:0024512 {source="OMIM:183840"} ! spondyloarthropathy, susceptibility id: MONDO:0008469 name: spondyloepimetaphyseal dysplasia-hypotrichosis syndrome def: "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:168443] +subset: gard_rare {source="GARD:10101"} subset: ordo_disease {source="Orphanet:168443"} synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183849] synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101] synonym: "Whyte syndrome" RELATED [OMIM:183849] +xref: GARD:10101 {source="Orphanet:168443"} xref: ICD10CM:Q77.7 {source="Orphanet:168443/attributed", source="Orphanet:168443/ntbt", source="Orphanet:168443"} xref: MESH:C535783 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} xref: OMIM:183849 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} @@ -156801,7 +158447,7 @@ is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloe id: MONDO:0008471 name: spondyloepiphyseal dysplasia congenita def: "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." [https://orcid.org/0000-0001-5208-3432, Orphanet:94068] -subset: gard_rare {source="GARD:0004987"} +subset: gard_rare {source="GARD:4987"} subset: ordo_disease {source="Orphanet:94068"} synonym: "congenital spondyloepiphyseal dysplasia" RELATED [https://orcid.org/0000-0001-8612-1062, Orphanet:94068] synonym: "late spondyloepiphyseal dysplasia" EXACT EXCLUDE [DOID:14789, MTH:NOCODE] @@ -156812,6 +158458,7 @@ synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" EXACT EXCLUDE [DOI synonym: "spondyloepiphyseal dysplasia, congenital type" EXACT [OMIM:183900] synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068] xref: DOID:14789 {source="MONDO:equivalentTo"} +xref: GARD:4987 {source="Orphanet:94068"} xref: ICD10CM:Q77.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:94068", source="Orphanet:94068/attributed", source="Orphanet:94068/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062920 {source="Orphanet:94068", source="Orphanet:94068/e"} @@ -156833,9 +158480,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4987/spondyl id: MONDO:0008472 name: spondyloepiphyseal dysplasia, MacDermot type def: "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." [Orphanet:163668] +subset: gard_rare {source="GARD:16996"} subset: ordo_malformation_syndrome {source="Orphanet:163668"} synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000] synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668] +xref: GARD:16996 {source="Orphanet:163668"} xref: ICD10CM:Q77.7 {source="Orphanet:163668/attributed", source="Orphanet:163668/ntbt", source="Orphanet:163668"} xref: MESH:C566659 {source="MONDO:equivalentTo"} xref: OMIM:184000 {source="Orphanet:163668/e", source="MONDO:equivalentTo", source="Orphanet:163668"} @@ -156848,6 +158497,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008473 name: spondyloepimetaphyseal dysplasia, Maroteaux type def: "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." [Orphanet:263482] +subset: gard_rare {source="GARD:994"} subset: ordo_disease {source="Orphanet:263482"} synonym: "brachyolmia Maroteaux type" RELATED [GARD:0000994] synonym: "pseudo-Morquio syndrome type 2" EXACT [Orphanet:263482] @@ -156857,6 +158507,7 @@ synonym: "spondyloepimetaphyseal dysplasia, Maroteaux type" EXACT CLINGEN_PREFER synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [GARD:0000994] synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095] xref: DOID:0111553 {source="MONDO:equivalentTo"} +xref: GARD:994 {source="Orphanet:263482"} xref: ICD10CM:Q77.7 {source="Orphanet:263482", source="Orphanet:263482/attributed", source="Orphanet:263482/ntbt"} xref: OMIM:184095 {source="Orphanet:263482", source="MONDO:equivalentTo", source="Orphanet:263482/e"} xref: Orphanet:263482 {source="MONDO:equivalentTo", source="OMIM:184095"} @@ -156876,10 +158527,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008474 name: spondyloepiphyseal dysplasia tarda, autosomal dominant def: "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies." [https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda] -subset: gard_rare {source="GARD:0010624"} +subset: gard_rare {source="GARD:15114"} synonym: "autosomal dominant spondyloepiphyseal dysplasia tarda" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:184100] xref: DOID:0112285 {source="MONDO:equivalentTo"} +xref: GARD:15114 {source="OMIM:184100"} xref: MESH:C566658 {source="MONDO:equivalentTo"} xref: OMIM:184100 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:184100"} @@ -156917,7 +158569,7 @@ property_value: IAO:0000589 "spondylolisthesis (disease)" xsd:string id: MONDO:0008476 name: spondyloepimetaphyseal dysplasia, Strudwick type def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93346] -subset: gard_rare {source="GARD:0000134"} +subset: gard_rare {source="GARD:134"} subset: ordo_disease {source="Orphanet:93346"} synonym: "dappled metaphysis syndrome" RELATED [OMIM:184250] synonym: "SEMD, Strudwick type" RELATED [OMIM:184250] @@ -156935,6 +158587,7 @@ synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [O synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250] synonym: "Strudwick syndrome" RELATED [OMIM:184250] xref: DOID:0080028 {source="MONDO:equivalentTo"} +xref: GARD:134 {source="Orphanet:93346"} xref: ICD10CM:Q77.7 {source="Orphanet:93346", source="Orphanet:93346/attributed", source="Orphanet:93346/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:184250 {source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028", source="Orphanet:93346/e"} @@ -156963,7 +158616,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/134/spondylo id: MONDO:0008477 name: spondylometaphyseal dysplasia, Kozlowski type def: "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." [Orphanet:93314] -subset: gard_rare {source="GARD:0003047"} +subset: gard_rare {source="GARD:3047"} subset: ordo_disease {source="Orphanet:93314"} synonym: "Dysmorphism arthrogryposis skeletal maturation advanced" RELATED [GARD:0003047] synonym: "Jequier Kozlowski skeletal dysplasia" RELATED [GARD:0003047] @@ -156974,6 +158627,7 @@ synonym: "SmD, Kozlowski type" RELATED [OMIM:184252] synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184252] synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:184252] xref: DOID:0111554 {source="MONDO:equivalentTo"} +xref: GARD:3047 {source="Orphanet:93314"} xref: ICD10CM:Q77.8 {source="Orphanet:93314", source="Orphanet:93314/attributed", source="Orphanet:93314/ntbt"} xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} @@ -156992,6 +158646,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3047/spondyl id: MONDO:0008478 name: spondylometaphyseal dysplasia, Schmidt type def: "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." [Orphanet:93316] +subset: gard_rare {source="GARD:504"} subset: ordo_disease {source="Orphanet:93316"} synonym: "Schmid metaphyseal dysostosis" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia Algerian type" RELATED [GARD:0000504] @@ -157000,6 +158655,7 @@ synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184 synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253] xref: DOID:0112296 {source="MONDO:equivalentTo"} +xref: GARD:504 {source="Orphanet:93316"} xref: ICD10CM:Q77.8 {source="Orphanet:93316/attributed", source="Orphanet:93316/ntbt", source="Orphanet:93316"} xref: MESH:C535794 {source="MONDO:equivalentTo"} xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", source="Orphanet:93316"} @@ -157015,7 +158671,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008479 name: spondylometaphyseal dysplasia, 'corner fracture' type def: "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." [Orphanet:93315] -subset: gard_rare {source="GARD:0004991"} +subset: gard_rare {source="GARD:4991"} subset: ordo_disease {source="Orphanet:93315"} synonym: "SMDCF" RELATED ABBREVIATION [OMIM:184255] synonym: "spondylometaphyseal dysplasia corner fracture type" RELATED [GARD:0004991] @@ -157025,6 +158681,7 @@ synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orp synonym: "Sutcliffe SmD" RELATED [GARD:0004991] synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991] xref: DOID:0112297 {source="MONDO:equivalentTo"} +xref: GARD:4991 {source="Orphanet:93315"} xref: ICD10CM:Q77.8 {source="Orphanet:93315", source="Orphanet:93315/attributed", source="Orphanet:93315/ntbt"} xref: MESH:C535793 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} @@ -157060,6 +158717,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008482 name: Sprengel deformity +subset: gard_rare {source="GARD:7693"} subset: ordo_morphological_anomaly {source="Orphanet:3181"} synonym: "congenital elevation of the scapula" RELATED [GARD:0007693] synonym: "congenital upward displacement of the scapula" RELATED [GARD:0007693] @@ -157068,6 +158726,7 @@ synonym: "Sprengel deformity" EXACT [MONDO:ambiguous, OMIM:184400] synonym: "Sprengel deformity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Sprengel's deformity" RELATED [GARD:0007693] synonym: "Sprengel's shoulder" RELATED [GARD:0007693] +xref: GARD:7693 {source="Orphanet:3181"} xref: HP:0000912 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:3181", source="Orphanet:3181/ntbt"} xref: MedDRA:10010455 {source="Orphanet:3181", source="Orphanet:3181/e"} @@ -157096,11 +158755,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008484 name: stapes ankylosis with broad thumbs and toes def: "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." [Orphanet:140917] +subset: gard_rare {source="GARD:12631"} subset: ordo_malformation_syndrome {source="Orphanet:140917"} synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [OMIM:184460] synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460] synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460] synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917] +xref: GARD:12631 {source="Orphanet:140917"} xref: ICD10CM:Q87.8 {source="Orphanet:140917/attributed", source="Orphanet:140917/ntbt", source="Orphanet:140917"} xref: OMIM:184460 {source="Orphanet:140917", source="MONDO:equivalentTo", source="Orphanet:140917/e"} xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"} @@ -157116,6 +158777,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008485 name: sebocystomatosis def: "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." [Orphanet:841] +subset: gard_rare {source="GARD:5003"} subset: ordo_disease {source="Orphanet:841"} synonym: "multiple sebaceous cysts" RELATED [GARD:0005003] synonym: "multiplex steatocystoma" RELATED [GARD:0005003] @@ -157123,6 +158785,7 @@ synonym: "sebaceous cysts, multiple" RELATED [OMIM:184500] synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500] synonym: "Steatocystoma multiplex" EXACT [Orphanet:841] xref: DOID:0111556 {source="MONDO:equivalentTo"} +xref: GARD:5003 {source="Orphanet:841"} xref: ICD10CM:L72.2 {source="Orphanet:841", source="Orphanet:841/e", source="Orphanet:841/specific"} xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="Orphanet:841/e"} xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"} @@ -157139,9 +158802,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008486 name: steatocystoma multiplex-natal teeth syndrome def: "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." [Orphanet:3184] +subset: gard_rare {source="GARD:5004"} subset: ordo_malformation_syndrome {source="Orphanet:3184"} synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004] synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510] +xref: GARD:5004 {source="Orphanet:3184"} xref: ICD10CM:L72.2 {source="Orphanet:3184/attributed", source="Orphanet:3184/ntbt", source="Orphanet:3184"} xref: MESH:C537487 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} xref: OMIM:184510 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} @@ -157193,11 +158858,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008488 name: holoprosencephaly-radial heart renal anomalies syndrome def: "Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." [Orphanet:3186] -subset: gard_rare +subset: gard_rare {source="GARD:2727"} subset: ordo_malformation_syndrome {source="Orphanet:3186"} synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727] synonym: "STEINFELD syndrome" RELATED [OMIM:184705] synonym: "Steinfeld syndrome" EXACT [Orphanet:3186] +xref: GARD:2727 {source="Orphanet:3186"} xref: ICD10CM:Q87.8 {source="Orphanet:3186/attributed", source="Orphanet:3186/ntbt", source="Orphanet:3186"} xref: MESH:C566655 {source="MONDO:equivalentTo"} xref: OMIM:184705 {source="Orphanet:3186/e", source="MONDO:equivalentTo", source="GARD:0002727", source="Orphanet:3186"} @@ -157222,7 +158888,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008490 name: otospondylomegaepiphyseal dysplasia, autosomal dominant def: "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." [Orphanet:166100] -subset: gard_rare {source="GARD:0005021"} +subset: gard_rare {source="GARD:5021"} subset: ordo_malformation_syndrome {source="Orphanet:166100", source="Orphanet:3450"} synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "heterozygous OSMED" EXACT [Orphanet:3450] @@ -157254,6 +158920,7 @@ synonym: "Weissenbacher-Zweymüller syndrome" RELATED [GARD:0004351] synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277610] xref: DOID:0080677 {source="MONDO:equivalentTo"} xref: DOID:4258 {source="MONDO:equivalentTo"} +xref: GARD:5021 {source="Orphanet:166100"} xref: ICD10CM:Q77.7 {source="Orphanet:3450/attributed", source="Orphanet:3450/ntbt", source="Orphanet:3450"} xref: ICD10CM:Q87.5 {source="Orphanet:166100/attributed", source="Orphanet:166100/ntbt", source="Orphanet:166100"} xref: MESH:C535776 {source="MONDO:equivalentTo"} @@ -157280,6 +158947,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008491 name: stiff-person syndrome def: "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." [Orphanet:3198] +subset: gard_rare {source="GARD:5023"} subset: ordo_disease {source="Orphanet:3198"} synonym: "Moersch-Woltman syndrome" EXACT [Orphanet:3198] synonym: "Morsch Woltman syndrome" RELATED [GARD:0005023] @@ -157297,6 +158965,7 @@ synonym: "stiff-person syndrome" EXACT [MONDO:Lexical, OMIM:184850] synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850] xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"} xref: EFO:0007498 {source="MONDO:equivalentTo"} +xref: GARD:5023 {source="Orphanet:3198"} xref: ICD10CM:G25.8 {source="Orphanet:3198/ntbt", source="Orphanet:3198"} xref: ICD10CM:G25.82 {source="DOID:13366"} xref: ICD9:333.91 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13366"} @@ -157319,12 +158988,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008492 name: stiff skin syndrome def: "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." [https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome] -subset: gard_rare {source="GARD:0005025"} +subset: gard_rare {source="GARD:5025"} subset: ordo_disease {source="Orphanet:2833"} synonym: "SSKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184900] synonym: "STIFF skin syndrome" RELATED [OMIM:184900] synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900] xref: DOID:0111561 {source="MONDO:equivalentTo"} +xref: GARD:5025 {source="Orphanet:2833"} xref: ICD10CM:L98.8 {source="Orphanet:2833", source="Orphanet:2833/attributed", source="Orphanet:2833/ntbt"} xref: MESH:C566112 {source="MONDO:equivalentTo"} xref: NCIT:C118636 {source="MONDO:equivalentTo"} @@ -157341,6 +159011,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5025/stiff-s id: MONDO:0008493 name: overhydrated hereditary stomatocytosis def: "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." [Orphanet:3203] +subset: gard_rare {source="GARD:4183"} subset: ordo_disease {source="Orphanet:3203"} synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185000] synonym: "OHST" RELATED ABBREVIATION [OMIM:185000] @@ -157351,6 +159022,7 @@ synonym: "Potassium-sodium disorder of erythrocyte" RELATED [OMIM:185000] synonym: "stomatocytosis 1" RELATED [OMIM:185000] synonym: "stomatocytosis I" RELATED [GARD:0004183] xref: DOID:0111562 {source="MONDO:equivalentTo"} +xref: GARD:4183 {source="Orphanet:3203"} xref: ICD10CM:D58.8 {source="Orphanet:3203/attributed", source="Orphanet:3203/ntbt", source="Orphanet:3203"} xref: MESH:C566111 {source="MONDO:equivalentTo"} xref: OMIM:185000 {source="Orphanet:3203", source="MONDO:equivalentTo", source="Orphanet:3203/e"} @@ -157364,12 +159036,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0008494 name: cryohydrocytosis def: "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." [Orphanet:398088] +subset: gard_rare {source="GARD:10184"} subset: ordo_disease {source="Orphanet:398088"} synonym: "CHC" EXACT ABBREVIATION [OMIM:185020] synonym: "cryohydrocytosis" EXACT [OMIM:185020] synonym: "hereditary cryohydrocytosis with normal stomatin" EXACT [Orphanet:398088] synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020] synonym: "stomatocytosis, cold-sensitive" EXACT [OMIM:185020] +xref: GARD:10184 {source="Orphanet:398088"} xref: ICD10CM:D58.8 {source="Orphanet:398088", source="Orphanet:398088/attributed", source="Orphanet:398088/ntbt"} xref: MESH:C535827 {source="MONDO:equivalentTo"} xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="Orphanet:398088/e"} @@ -157383,7 +159057,7 @@ property_value: confidence "0.1428571428571428" xsd:double id: MONDO:0008495 name: platelet storage pool deficiency def: "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." [https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency] -subset: gard_rare {source="GARD:0005034"} +subset: gard_rare {source="GARD:5034"} subset: ordo_disease {source="Orphanet:734"} synonym: "alpha delta granule deficiency" RELATED [Orphanet:734] synonym: "alpha dense granule deficiency" EXACT [Orphanet:734] @@ -157395,6 +159069,7 @@ synonym: "platelet storage pool diseases" RELATED [GARD:0005034] synonym: "storage pool platelet disease" RELATED [OMIM:185050] xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"} xref: EFO:1001112 {source="MONDO:equivalentTo"} +xref: GARD:5034 {source="Orphanet:734"} xref: ICD10CM:D69.1 {source="Orphanet:734/attributed", source="Orphanet:734/ntbt", source="Orphanet:734"} xref: MESH:D010981 {source="EFO:1001112", source="DOID:2223", source="MONDO:equivalentTo"} xref: OMIM:185050 {source="DOID:2223", source="Orphanet:734", source="MONDO:equivalentTo"} @@ -157415,7 +159090,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5034/platele [Term] id: MONDO:0008496 name: storm syndrome -subset: gard_rare {source="GARD:0005035"} synonym: "pleiotropic, autosomal dominant disorder affecting connective tissue" RELATED [GARD:0005035] synonym: "storm syndrome" EXACT [OMIM:185069] xref: MESH:C566109 {source="MONDO:equivalentTo"} @@ -157428,6 +159102,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5035/storm-s id: MONDO:0008497 name: Stormorken syndrome def: "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3204] +subset: gard_rare {source="GARD:5188"} subset: ordo_disease {source="Orphanet:3204"} synonym: "Stormorken syndrome" EXACT [MONDO:Lexical, OMIM:185070, Orphanet:3204] synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [Orphanet:3204] @@ -157438,6 +159113,7 @@ synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [OMIM:185070] synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204] synonym: "york Platelet syndrome" RELATED [OMIM:185070] xref: DOID:0060354 {source="MONDO:equivalentTo"} +xref: GARD:5188 {source="Orphanet:3204"} xref: ICD10CM:D69.8 {source="Orphanet:3204/attributed", source="Orphanet:3204/ntbt", source="Orphanet:3204"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566108 {source="DOID:0060354", source="MONDO:equivalentTo"} @@ -157467,12 +159143,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008499 name: short stature-wormian bones-dextrocardia syndrome def: "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." [Orphanet:2863] +subset: gard_rare {source="GARD:4856"} subset: ordo_malformation_syndrome {source="Orphanet:2863"} synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [OMIM:185120] synonym: "short stature wormian bones dextrocardia" RELATED [GARD:0004856] synonym: "Stratton Parker syndrome" RELATED [GARD:0004856] synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120] synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863] +xref: GARD:4856 {source="Orphanet:2863"} xref: ICD10CM:Q87.1 {source="Orphanet:2863/attributed", source="Orphanet:2863/ntbt", source="Orphanet:2863"} xref: MESH:C566105 {source="MONDO:equivalentTo"} xref: OMIM:185120 {source="Orphanet:2863", source="MONDO:equivalentTo", source="Orphanet:2863/e"} @@ -157497,7 +159175,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008501 name: Sturge-Weber syndrome def: "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." [Orphanet:3205] -subset: gard_rare {source="GARD:0007706"} +subset: gard_rare {source="GARD:7706"} subset: ordo_malformation_syndrome {source="Orphanet:3205"} synonym: "Encephalofacial angiomatosis" EXACT [Orphanet:3205] synonym: "Encephalotrigeminal angiomatosis" EXACT [Orphanet:3205] @@ -157518,6 +159196,7 @@ synonym: "SWS type I - Facial and leptomeningeal angiomas" RELATED [GARD:0007706 synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD:0007706] synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706] xref: DOID:0111563 {source="MONDO:equivalentTo"} +xref: GARD:7706 {source="Orphanet:3205"} xref: ICD10CM:Q85.8 {source="Orphanet:3205/inclusion", source="Orphanet:3205", source="Orphanet:3205/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10042265 {source="Orphanet:3205", source="Orphanet:3205/e"} @@ -157558,13 +159237,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008503 name: Worster-Drought syndrome def: "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." [Orphanet:3465] -subset: gard_rare {source="GARD:0005598"} +subset: gard_rare {source="GARD:5598"} subset: ordo_malformation_syndrome {source="Orphanet:3465"} synonym: "congenital suprabulbar paresis" EXACT [Orphanet:3465] synonym: "suprabulbar paresis congenital" RELATED [GARD:0005598] synonym: "suprabulbar paresis, congenital" RELATED [OMIM:185480] synonym: "Worster Drought syndrome" RELATED [GARD:0005598] synonym: "Worster-Drought syndrome" EXACT [OMIM:185480] +xref: GARD:5598 {source="Orphanet:3465"} xref: ICD10CM:G80.8 {source="Orphanet:3465/ntbt", source="Orphanet:3465"} xref: MESH:C536747 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} xref: OMIM:185480 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} @@ -157582,6 +159262,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5598/worster id: MONDO:0008504 name: supravalvular aortic stenosis def: "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." [Orphanet:3193] +subset: gard_rare {source="GARD:743"} subset: ordo_morphological_anomaly {source="Orphanet:3193"} synonym: "aortic supravalvular stenosis" RELATED [GARD:0000743] synonym: "supra-valvular aortic stenosis" EXACT [DOID:1929] @@ -157591,6 +159272,7 @@ synonym: "supravalvular aortic stenosis" EXACT CLINGEN_PREFERRED [MONDO:ambiguou synonym: "supravalvular aortic stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "SVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185500, Orphanet:3193] xref: DOID:1929 {source="MONDO:equivalentTo"} +xref: GARD:743 {source="Orphanet:3193"} xref: HP:0004381 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.3 {source="DOID:1929", source="Orphanet:3193/inclusion", source="Orphanet:3193/ntbt", source="Orphanet:3193"} xref: MedDRA:10042598 {source="Orphanet:3193/e", source="Orphanet:3193"} @@ -157655,11 +159337,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008509 name: distal symphalangism def: "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." [Orphanet:3248] +subset: gard_rare {source="GARD:5074"} subset: ordo_morphological_anomaly {source="Orphanet:3248"} synonym: "distal symphalangism" EXACT [MONDO:ambiguous] synonym: "distal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Sym2" RELATED [OMIM:185700] synonym: "symphalangism, distal" RELATED [OMIM:185700] +xref: GARD:5074 {source="Orphanet:3248"} xref: HP:0100263 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q70.9 {source="Orphanet:3248/attributed", source="Orphanet:3248/ntbt", source="Orphanet:3248"} xref: MESH:C566099 {source="MONDO:equivalentTo"} @@ -157678,10 +159362,11 @@ property_value: IAO:0000589 "distal symphalangism (disease)" xsd:string id: MONDO:0008510 name: symphalangism with multiple anomalies of hands and feet def: "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." [Orphanet:3246] -subset: gard_rare {source="GARD:0005077"} +subset: gard_rare {source="GARD:5077"} subset: ordo_malformation_syndrome {source="Orphanet:3246"} synonym: "Learman syndrome" EXACT [Orphanet:3246] synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750] +xref: GARD:5077 {source="Orphanet:3246"} xref: ICD10CM:Q74.8 {source="Orphanet:3246", source="Orphanet:3246/attributed", source="Orphanet:3246/ntbt"} xref: MESH:C566098 {source="MONDO:equivalentTo"} xref: OMIM:185750 {source="Orphanet:3246", source="MONDO:equivalentTo", source="Orphanet:3246/e"} @@ -157699,6 +159384,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5077/symphal id: MONDO:0008511 name: proximal symphalangism def: "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." [Orphanet:3250] +subset: gard_rare {source="GARD:8182"} subset: ordo_malformation_syndrome {source="Orphanet:3250"} subset: prototype_pattern synonym: "Cushing's symphalangism" EXACT [DOID:0050788] @@ -157711,6 +159397,7 @@ synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" RELATED [GARD synonym: "symphalangism, Cushing type" EXACT [Orphanet:3250] synonym: "vessel’s syndrome" RELATED [GARD:0008182] xref: DOID:0050788 {source="MONDO:equivalentTo"} +xref: GARD:8182 {source="Orphanet:3250"} xref: HP:0100264 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q70.9 {source="Orphanet:3250/attributed", source="Orphanet:3250/ntbt", source="Orphanet:3250"} xref: MESH:C536223 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="Orphanet:3250"} @@ -157728,6 +159415,7 @@ property_value: IAO:0000589 "proximal symphalangism (disease)" xsd:string id: MONDO:0008512 name: syndactyly type 1 def: "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." [Orphanet:93402] +subset: gard_rare {source="GARD:5081"} subset: ordo_morphological_anomaly {source="Orphanet:93402"} synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [OMIM:185900] synonym: "craniosynostosis, Philadelphia type" RELATED [OMIM:185900] @@ -157737,6 +159425,7 @@ synonym: "syndactyly, type 1" RELATED [OMIM:185900] synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [OMIM:185900, OMIM:genemap2] synonym: "Zygodactyly" RELATED [OMIM:185900] xref: DOID:0111816 {source="MONDO:equivalentTo"} +xref: GARD:5081 {source="Orphanet:93402"} xref: ICD10CM:Q70.0 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} xref: ICD10CM:Q70.1 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} @@ -157762,6 +159451,7 @@ id: MONDO:0008513 name: synpolydactyly type 1 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene] comment: Editors note: check whether is_a: MONDO:0019683 is appropriate +subset: gard_rare {source="GARD:17358"} subset: ordo_clinical_subtype {source="Orphanet:295195"} synonym: "HOXD13 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic synpolydactyly caused by mutation in HOXD13" EXACT [MONDO:design_pattern] @@ -157774,6 +159464,7 @@ synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000] synonym: "synpolydactyly type 1" EXACT CLINGEN_PREFERRED [MONDORULE:1, OMIM:186000] synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000] synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195] +xref: GARD:17358 {source="Orphanet:295195"} xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} xref: OMIM:186000 {source="Orphanet:295195", source="MONDO:equivalentTo", source="Orphanet:295195/e"} @@ -157796,7 +159487,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008514 name: syndactyly type 3 def: "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." [Orphanet:93404] -subset: gard_rare {source="GARD:0005088"} +subset: gard_rare {source="GARD:5088"} subset: ordo_morphological_anomaly {source="Orphanet:93404"} synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern] @@ -157809,6 +159500,7 @@ synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088] synonym: "syndactyly, type 3" RELATED [OMIM:186100] synonym: "syndactyly, type III" RELATED [OMIM:186100] xref: DOID:0111817 {source="MONDO:equivalentTo"} +xref: GARD:5088 {source="Orphanet:93404"} xref: ICD10CM:Q70.1 {source="Orphanet:93404/attributed", source="Orphanet:93404/ntbt", source="Orphanet:93404"} xref: MESH:C538154 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: OMIM:186100 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} @@ -157828,7 +159520,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5088/syndact id: MONDO:0008515 name: syndactyly type 4 def: "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93405] -subset: gard_rare {source="GARD:0004434"} +subset: gard_rare {source="GARD:4434"} subset: ordo_morphological_anomaly {source="Orphanet:93405"} synonym: "Haas type syndactyly" RELATED [OMIM:186200] synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -157840,6 +159532,7 @@ synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186200] synonym: "syndactyly, type 4" RELATED [OMIM:186200] synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200] xref: DOID:0111818 {source="MONDO:equivalentTo"} +xref: GARD:4434 {source="Orphanet:93405"} xref: ICD10CM:Q70.4 {source="Orphanet:93405", source="Orphanet:93405/attributed", source="Orphanet:93405/ntbt"} xref: MESH:C566092 {source="MONDO:equivalentTo"} xref: OMIM:186200 {source="Orphanet:93405/e", source="MONDO:equivalentTo", source="Orphanet:93405"} @@ -157859,7 +159552,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4434/syndact id: MONDO:0008516 name: syndactyly type 5 def: "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." [Orphanet:93406] -subset: gard_rare {source="GARD:0005089"} +subset: gard_rare {source="GARD:5089"} subset: ordo_morphological_anomaly {source="Orphanet:93406"} synonym: "postaxial syndactyly with metacarpal synostosis" EXACT [Orphanet:93406] synonym: "SD5" EXACT ABBREVIATION [Orphanet:93406] @@ -157869,6 +159562,7 @@ synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300 synonym: "syndactyly, type 5" RELATED [OMIM:186300] synonym: "syndactyly, type V" RELATED [OMIM:186300] xref: DOID:0111819 {source="MONDO:equivalentTo"} +xref: GARD:5089 {source="Orphanet:93406"} xref: ICD10CM:Q70.0 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} xref: ICD10CM:Q70.2 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} xref: MESH:C538155 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} @@ -157886,10 +159580,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5089/syndact [Term] id: MONDO:0008517 name: syndactyly-polydactyly-ear lobe syndrome +subset: gard_rare {source="GARD:5090"} subset: ordo_malformation_syndrome {source="Orphanet:3259"} synonym: "hallux syndactyly ulnar polydactyly abnormal ear lobes" RELATED [GARD:0005090] synonym: "Spel syndrome" RELATED [OMIM:186350] synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350] +xref: GARD:5090 {source="Orphanet:3259"} xref: MESH:C566091 {source="MONDO:equivalentTo"} xref: OMIM:186350 {source="Orphanet:3259", source="MONDO:equivalentTo", source="Orphanet:3259/e"} xref: Orphanet:3259 {source="MONDO:equivalentTo", source="OMIM:186350"} @@ -157901,11 +159597,13 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008518 name: calcaneonavicular coalition def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." [DOID:14762, http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome] +subset: gard_rare {source="GARD:9863"} synonym: "calcaneonavicular coalition" EXACT [OMIM:186400] synonym: "multiple synostosis syndrome" EXACT [DOID:14762] synonym: "synostoses, tarsal, carpal and digital" EXACT [DOID:14762] synonym: "synostoses, tarsal, carpal, and digital" RELATED [OMIM:186400] xref: DOID:14762 {source="MONDO:equivalentTo"} +xref: GARD:9863 {source="OMIM:186400"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538156 {source="MONDO:equivalentTo"} xref: OMIM:186400 {source="MONDO:equivalentTo", source="DOID:14762"} @@ -157922,6 +159620,7 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0008519 name: multiple synostoses syndrome 1 def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15115"} synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [OMIM:186500] synonym: "facioaudiosymphalangism syndrome" RELATED [OMIM:186500] synonym: "multiple synostoses syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:186500] @@ -157937,6 +159636,7 @@ synonym: "synostoses, multiple, with brachydactyly" RELATED [OMIM:186500] synonym: "SYNS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186500] synonym: "Wl syndrome" RELATED [OMIM:186500] xref: DOID:0081317 {source="MONDO:equivalentTo"} +xref: GARD:15115 {source="OMIM:186500"} xref: OMIM:186500 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:186500"} xref: UMLS:C0342282 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186500"} @@ -157953,7 +159653,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008520 name: brachydactyly-elbow wrist dysplasia syndrome def: "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." [Orphanet:1275] -subset: gard_rare +subset: gard_rare {source="GARD:966"} subset: ordo_malformation_syndrome {source="Orphanet:1275"} synonym: "brachydactyly elbow wrist dysplasia" RELATED [GARD:0000966] synonym: "brachydactyly with Joint dysplasia" RELATED [OMIM:186550] @@ -157964,6 +159664,7 @@ synonym: "LBNBG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186550] synonym: "LIEBENBERG syndrome" RELATED [OMIM:186550] synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275] synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550] +xref: GARD:966 {source="Orphanet:1275"} xref: ICD10CM:Q73.8 {source="Orphanet:1275", source="Orphanet:1275/attributed", source="Orphanet:1275/ntbt"} xref: MESH:C566090 {source="MONDO:equivalentTo"} xref: OMIM:186550 {source="Orphanet:1275", source="MONDO:equivalentTo", source="Orphanet:1275/e", source="GARD:0000966"} @@ -157982,7 +159683,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/966/brachyda id: MONDO:0008521 name: tarsal-carpal coalition syndrome def: "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges." [Orphanet:1412] -subset: gard_rare {source="GARD:0009225"} +subset: gard_rare {source="GARD:9225"} subset: ordo_malformation_syndrome {source="Orphanet:1412"} synonym: "synostosis of talus and calcaneus with short stature" RELATED [OMIM:186570] synonym: "tarsal carpal coalition syndrome" RELATED [GARD:0009225] @@ -157990,6 +159691,7 @@ synonym: "tarsal-carpal coalition syndrome" EXACT [MONDO:Lexical, OMIM:186570] synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186570] xref: DOID:0050789 {source="MONDO:equivalentTo"} xref: EFO:0008965 {source="MONDO:equivalentTo"} +xref: GARD:9225 {source="Orphanet:1412"} xref: ICD10CM:Q74.8 {source="Orphanet:1412", source="Orphanet:1412/attributed", source="Orphanet:1412/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536943 {source="Orphanet:1412", source="Orphanet:1412/e"} @@ -158010,7 +159712,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9225/tarsal- [Term] id: MONDO:0008522 name: synovial chondromatosis, familial, with dwarfism -subset: gard_rare {source="GARD:0007720"} synonym: "synovial chondromatosis, familial with dwarfism" RELATED [GARD:0007720] synonym: "synovial chondromatosis, familial, with dwarfism" EXACT [OMIM:186575] xref: MESH:C566087 {source="MONDO:equivalentTo"} @@ -158023,7 +159724,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7720/synovia id: MONDO:0008523 name: Blau syndrome def: "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." [Orphanet:90340] -subset: gard_rare {source="GARD:0000304"} +subset: gard_rare {source="GARD:304"} subset: ordo_disease {source="Orphanet:90340"} synonym: "ACUG" RELATED ABBREVIATION [GARD:0000304] synonym: "arthrocutaneouveal granulomatosis" EXACT [DOID:0050678, OMIM:186580] @@ -158041,6 +159742,7 @@ synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304] synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580] xref: DOID:0050678 {source="MONDO:equivalentTo"} +xref: GARD:304 {source="Orphanet:90340"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:714.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071755 {source="Orphanet:90340", source="Orphanet:90340/e"} @@ -158088,7 +159790,6 @@ property_value: confidence "2.0666666666666664" xsd:double [Term] id: MONDO:0008526 name: talonavicular coalition -subset: gard_rare {source="GARD:0010062"} synonym: "talonavicular coalition" EXACT [OMIM:186750] xref: MESH:C536895 {source="MONDO:equivalentTo"} xref: OMIM:186750 {source="MONDO:equivalentTo"} @@ -158176,12 +159877,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008534 name: generalized essential telangiectasia +subset: gard_rare {source="GARD:21087"} subset: ordo_disease {source="Orphanet:280774"} synonym: "GET" EXACT ABBREVIATION [Orphanet:280774] synonym: "Hbt" RELATED [OMIM:187260] synonym: "telangiectasia, generalised essential" RELATED OMO:0003005 [] synonym: "telangiectasia, generalized essential" RELATED [OMIM:187260] synonym: "telangiectasia, hereditary benign" RELATED [OMIM:187260] +xref: GARD:21087 {source="Orphanet:280774"} xref: OMIM:187260 {source="MONDO:equivalentTo"} xref: Orphanet:280774 {source="MONDO:equivalentTo"} xref: SCTID:238763007 {source="MONDO:equivalentTo"} @@ -158228,8 +159931,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008537 name: telecanthus subset: disease_grouping +subset: gard_rare {source="GARD:19505"} subset: ordo_group_of_disorders {source="Orphanet:98575"} synonym: "telecanthus" EXACT [OMIM:187350] +xref: GARD:19505 {source="Orphanet:98575"} xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="Orphanet:98575/attributed", source="Orphanet:98575/ntbt"} xref: MESH:C562941 {source="MONDO:equivalentTo"} xref: OMIM:187350 {source="MONDO:equivalentTo"} @@ -158243,6 +159948,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008538 name: temporal arteritis def: "A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." [https://orcid.org/0000-0001-5208-3432, Orphanet:397] +subset: gard_rare {source="GARD:9615"} subset: ordo_disease {source="Orphanet:397"} synonym: "arteritis cranialis" RELATED [GARD:0009615] synonym: "arteritis temporalis" RELATED [GARD:0009615] @@ -158262,6 +159968,7 @@ synonym: "temporal arteritis" EXACT [OMIM:187360, Orphanet:397] synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"} xref: EFO:1001209 {source="MONDO:equivalentTo"} +xref: GARD:9615 {source="Orphanet:397"} xref: ICD10CM:M31.6 {source="Orphanet:397/ntbt", source="Orphanet:397", source="EFO:1001209"} xref: ICD9:446.5 {source="DOID:13375"} xref: MedDRA:10018250 {source="Orphanet:397/e", source="Orphanet:397"} @@ -158297,11 +160004,13 @@ replaced_by: MONDO:0016675 [Term] id: MONDO:0008540 name: extensor tendons of finger anomalies +subset: gard_rare {source="GARD:2597"} subset: ordo_malformation_syndrome {source="Orphanet:3294"} synonym: "anomalous insertion of extensor tendons of fingers" RELATED [GARD:0002597] synonym: "Hapnes Boman Skeie syndrome" RELATED [GARD:0002597] synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294] synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390] +xref: GARD:2597 {source="Orphanet:3294"} xref: MESH:C566068 {source="MONDO:equivalentTo"} xref: OMIM:187390 {source="Orphanet:3294/e", source="MONDO:equivalentTo", source="Orphanet:3294"} xref: Orphanet:3294 {source="OMIM:187390", source="MONDO:equivalentTo"} @@ -158344,7 +160053,7 @@ id: MONDO:0008542 name: tetralogy of fallot def: "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." [Orphanet:3303] subset: clingen -subset: gard_rare {source="GARD:0002245"} +subset: gard_rare {source="GARD:2245"} subset: ordo_malformation_syndrome {source="Orphanet:3303"} synonym: "Fallot tetralogy" RELATED [GARD:0002245] synonym: "tetralogy of FALLOT" RELATED [OMIM:187500] @@ -158352,6 +160061,7 @@ synonym: "tetralogy of fallot" EXACT [MONDO:Lexical, OMIM:187500] synonym: "TOF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187500] synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419] xref: DOID:6419 {source="MONDO:equivalentTo"} +xref: GARD:2245 {source="Orphanet:3303"} xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} xref: ICD9:745.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6419"} xref: MedDRA:10016193 {source="Orphanet:3303", source="Orphanet:3303/e"} @@ -158374,7 +160084,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2245/tetralo [Term] id: MONDO:0008543 name: tetralogy of fallot and glaucoma -subset: gard_rare {source="GARD:0010107"} synonym: "familial tetralogy of fallot and glaucoma" RELATED [GARD:0010107] synonym: "tetralogy of fallot and glaucoma" EXACT [OMIM:187501] xref: MESH:C536501 {source="MONDO:equivalentTo"} @@ -158387,12 +160096,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10107/tetral id: MONDO:0008544 name: tetramelic monodactyly def: "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." [Orphanet:2564] -subset: gard_rare {source="GARD:0003707"} +subset: gard_rare {source="GARD:3707"} subset: ordo_malformation_syndrome {source="Orphanet:2564"} synonym: "Sommer Hines syndrome" RELATED [GARD:0003707] synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564] synonym: "tetramelic monodactyly" EXACT [OMIM:187510] synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707] +xref: GARD:3707 {source="Orphanet:2564"} xref: ICD10CM:Q73.8 {source="Orphanet:2564", source="Orphanet:2564/attributed", source="Orphanet:2564/ntbt"} xref: MESH:C566066 {source="MONDO:equivalentTo"} xref: OMIM:187510 {source="Orphanet:2564", source="MONDO:equivalentTo", source="Orphanet:2564/e"} @@ -158418,6 +160128,7 @@ is_a: MONDO:0019402 {source="DC-OMIM:187550", source="MESH:C566065"} ! beta thal id: MONDO:0008546 name: thanatophoric dysplasia type 1 def: "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." [Orphanet:1860] +subset: gard_rare {source="GARD:9295"} subset: ordo_clinical_subtype {source="Orphanet:1860"} synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [OMIM:187600] synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [OMIM:187600] @@ -158431,6 +160142,7 @@ synonym: "thanatophoric dysplasia type I" RELATED [GARD:0009295] synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583] synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600] synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583] +xref: GARD:9295 {source="Orphanet:1860"} xref: ICD10CM:Q77.1 {source="Orphanet:1860", source="Orphanet:1860/attributed", source="Orphanet:1860/ntbt"} xref: NCIT:C98583 {source="MONDO:equivalentTo"} xref: OMIM:187600 {source="Orphanet:1860", source="MONDO:equivalentTo", source="Orphanet:1860/e"} @@ -158453,7 +160165,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008547 name: thanatophoric dysplasia type 2 def: "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." [] -subset: gard_rare {source="GARD:0001402"} +subset: gard_rare {source="GARD:1402"} subset: ordo_clinical_subtype {source="Orphanet:93274"} synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [OMIM:187601] synonym: "cloverleaf skull-micromelic bone dysplasia syndrome" EXACT [Orphanet:93274] @@ -158467,6 +160179,7 @@ synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" REL synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584] synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601] synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584] +xref: GARD:1402 {source="Orphanet:93274"} xref: ICD10CM:Q77.1 {source="Orphanet:93274", source="Orphanet:93274/attributed", source="Orphanet:93274/ntbt"} xref: ICD9:742.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536508 {source="MONDO:equivalentTo"} @@ -158515,12 +160228,15 @@ replaced_by: MONDO:0008551 id: MONDO:0008551 name: thoracolaryngopelvic dysplasia def: "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." [Orphanet:3317] +subset: gard_rare {source="GARD:15116", source="GARD:5184"} subset: ordo_malformation_syndrome {source="Orphanet:3317"} synonym: "autosomal dominant thoracolaryngopelvic dysplasia" RELATED [GARD:0005184] synonym: "Barnes syndrome" EXACT [OMIM:187760, Orphanet:3317] synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760] synonym: "thoracopelvic dysostosis" EXACT [OMIM:187770] synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760] +xref: GARD:15116 {source="OMIM:187760"} +xref: GARD:5184 {source="Orphanet:3317"} xref: ICD10CM:Q77.2 {source="Orphanet:3317", source="Orphanet:3317/attributed", source="Orphanet:3317/ntbt"} xref: MESH:C536517 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} xref: OMIM:187760 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3317", source="Orphanet:3317/btnt"} @@ -158564,6 +160280,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008553 name: platelet-type bleeding disorder 17 def: "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." [NCIT:C142084] +subset: gard_rare {source="GARD:15117"} synonym: "BDPLT17" EXACT ABBREVIATION [DOID:0111049, MONDO:Lexical, OMIM:187900] synonym: "bleeding disorder, platelet-type 17" EXACT [NCIT:C142084] synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical, OMIM:187900] @@ -158573,6 +160290,7 @@ synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B synonym: "platelet-type bleeding disorder 17" EXACT CLINGEN_PREFERRED [] synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900] xref: DOID:0111049 {source="MONDO:equivalentTo"} +xref: GARD:15117 {source="OMIM:187900"} xref: ICD10CM:D69.1 {source="DOID:0111049"} xref: MESH:C566060 {source="MONDO:equivalentTo"} xref: MESH:D055652 {source="DOID:0111049"} @@ -158613,12 +160331,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008555 name: thrombocytopenia 2 def: "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." [NCIT:C129035] -subset: gard_rare {source="GARD:0005191"} +subset: gard_rare {source="GARD:5191"} synonym: "THC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188000] synonym: "thrombocytopenia 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:188000] synonym: "thrombocytopenia autosomal dominant 2" RELATED [GARD:0005191] synonym: "thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:188000] synonym: "thrombocytopenia, autosomal dominant, 2" RELATED [OMIM:188000] +xref: GARD:5191 {source="OMIM:188000"} xref: MESH:C536519 {source="MONDO:equivalentTo"} xref: NCIT:C129035 {source="MONDO:equivalentTo"} xref: OMIM:188000 {source="MONDO:equivalentTo"} @@ -158632,7 +160351,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5191/thrombo [Term] id: MONDO:0008556 name: thrombocytopenia, cyclic -subset: gard_rare {source="GARD:0009862"} synonym: "cyclic thrombocytopenia" RELATED [GARD:0009862] synonym: "thrombocytopenia cyclic" RELATED [GARD:0009862] synonym: "thrombocytopenia, cyclic" EXACT [OMIM:188020] @@ -158649,7 +160367,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9862/cyclic- id: MONDO:0008557 name: Paris-Trousseau thrombocytopenia def: "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." [Orphanet:851] -subset: gard_rare {source="GARD:0004224"} +subset: gard_rare {source="GARD:4224"} subset: ordo_disease {source="Orphanet:851"} synonym: "chromosome 11q23 deletion syndrome" RELATED [OMIM:188025] synonym: "Paris-Trousseau syndrome" RELATED [GARD:0004224] @@ -158657,6 +160375,7 @@ synonym: "TCPT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188025] synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224] synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025] synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2] +xref: GARD:4224 {source="Orphanet:851"} xref: ICD10CM:D69.4 {source="Orphanet:851", source="Orphanet:851/attributed", source="Orphanet:851/ntbt"} xref: MESH:C538617 {source="Orphanet:851", source="Orphanet:851/e"} xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} @@ -158674,6 +160393,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4224/paris-t id: MONDO:0008558 name: autoimmune thrombocytopenic purpura def: "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." [NCIT:P378] +subset: gard_rare {source="GARD:5194"} subset: ordo_disease {source="Orphanet:3002"} synonym: "AITP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188030] synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924] @@ -158691,6 +160411,7 @@ synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:18803 synonym: "Werlhof's disease" RELATED [DOID:8924] xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"} xref: EFO:0007160 {source="MONDO:equivalentTo"} +xref: GARD:5194 {source="Orphanet:3002"} xref: ICD10CM:D69.3 {source="Orphanet:3002", source="Orphanet:3002/ntbt", source="DOID:8924"} xref: ICD9:287.31 {source="DOID:8924"} xref: MedDRA:10021245 {source="Orphanet:3002", source="Orphanet:3002/e"} @@ -158794,12 +160515,14 @@ property_value: IAO:0000589 "thumb deformity (disease)" xsd:string id: MONDO:0008562 name: thumb deformity-alopecia-pigmentation anomaly syndrome def: "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." [Orphanet:2251] +subset: gard_rare {source="GARD:5199"} subset: ordo_malformation_syndrome {source="Orphanet:2251"} synonym: "congenital deformity of the thumb and congenital alopecia" RELATED [GARD:0005199] synonym: "hypotrichosis associated with congenital hypoplasia of the thumb" RELATED [GARD:0005199] synonym: "sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation" RELATED [GARD:0005199] synonym: "thumb deformity and alopecia" RELATED [OMIM:188150] synonym: "thumb deformity, alopecia, pigmentation anomaly" RELATED [GARD:0005199] +xref: GARD:5199 {source="Orphanet:2251"} xref: MESH:C536904 {source="Orphanet:2251/e", source="Orphanet:2251"} xref: MESH:C566054 {source="MONDO:equivalentTo"} xref: OMIM:188150 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"} @@ -158815,7 +160538,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0008563 name: thumb stiffness-brachydactyly-intellectual disability syndrome def: "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." [Orphanet:1078] -subset: gard_rare +subset: gard_rare {source="GARD:4375"} subset: ordo_malformation_syndrome {source="Orphanet:1078"} synonym: "Piussan-Lenaerts-Mathieu syndrome" EXACT [Orphanet:1078] synonym: "Thumb ankylosis with intellectual disability" RELATED [GARD:0004375] @@ -158823,6 +160546,7 @@ synonym: "Thumb ankylosis with mental retardation" RELATED DEPRECATED [GARD:0004 synonym: "thumb stiff brachydactyly intellectual disability" RELATED [GARD:0005200] synonym: "thumb stiff brachydactyly mental retardation" RELATED DEPRECATED [GARD:0005200] synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201] +xref: GARD:4375 {source="Orphanet:1078"} xref: ICD10CM:Q87.2 {source="Orphanet:1078/attributed", source="Orphanet:1078/ntbt", source="Orphanet:1078"} xref: MESH:C537511 {source="Orphanet:1078", source="Orphanet:1078/e"} xref: OMIM:188201 {source="Orphanet:1078", source="MONDO:equivalentTo", source="Orphanet:1078/e"} @@ -158836,6 +160560,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0008564 name: DiGeorge syndrome def: "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." [NCIT:P378] +subset: gard_rare {source="GARD:15118"} synonym: "22q deletion syndrome(s)" EXACT [NCIT:C2989] synonym: "22q11.2 Deletion syndrome" EXACT [NCIT:C2989] synonym: "Catch22" RELATED [OMIM:188400] @@ -158859,6 +160584,7 @@ synonym: "VCF" RELATED ABBREVIATION [NCIT:C2989] synonym: "velo-cardio-facial syndrome" RELATED [NCIT:C2989] synonym: "velocardiofacial syndrome" RELATED [NCIT:C2989] xref: DOID:11198 {source="MONDO:equivalentTo"} +xref: GARD:15118 {source="OMIM:188400"} xref: GTR:AN1145678 xref: ICD10CM:D82.1 {source="DOID:11198"} xref: ICD9:279.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11198"} @@ -158883,13 +160609,14 @@ property_value: confidence "0.6726012650301525" xsd:double id: MONDO:0008565 name: familial thyroglossal duct cyst def: "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." [Orphanet:93953] -subset: gard_rare {source="GARD:0005204"} +subset: gard_rare {source="GARD:5204"} subset: ordo_morphological_anomaly {source="Orphanet:93953"} synonym: "hereditary thyroglossal duct cyst" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455] synonym: "thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204] +xref: GARD:5204 {source="Orphanet:93953"} xref: ICD10CM:Q89.2 {source="Orphanet:93953", source="Orphanet:93953/ntbt"} xref: MESH:C536909 {source="MONDO:equivalentTo"} xref: OMIM:188455 {source="MONDO:equivalentTo", source="Orphanet:93953", source="Orphanet:93953/e"} @@ -158911,6 +160638,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5204/familia [Term] id: MONDO:0008566 name: thyroid cancer, nonmedullary, 2 +subset: gard_rare {source="GARD:5206"} synonym: "FTC" RELATED ABBREVIATION [GARD:0005206] synonym: "NMTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188470] synonym: "thyroid cancer, follicular" RELATED [GARD:0005206] @@ -158920,6 +160648,7 @@ synonym: "thyroid cancer, nonmedullary, type 2" EXACT [MONDORULE:1, OMIM:188470] synonym: "thyroid carcinoma, follicular" RELATED [GARD:0005206] synonym: "thyroid carcinoma, follicular, autosomal dominant, somatic mutation" EXACT [OMIM:188470, OMIM:genemap2] synonym: "thyroid carcinoma, follicular, somatic" EXACT [OMIM:188470, OMIM:genemap2] +xref: GARD:5206 {source="OMIM:188470"} xref: MESH:C572845 {source="MONDO:equivalentTo"} xref: OMIM:188470 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="OMIM:188470"} @@ -158950,7 +160679,6 @@ property_value: confidence "1.198067632850242" xsd:double [Term] id: MONDO:0008568 name: thyroid hormone plasma membrane transport defect -subset: gard_rare {source="GARD:0008499"} synonym: "hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport defect" EXACT [OMIM:188560] synonym: "thyroid hormone plasma membrane transport defect" EXACT [OMIM:188560] synonym: "thyroid hormone resistance due to T4 plasma Membrane transport defect" EXACT [OMIM:188560] @@ -158985,12 +160713,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008570 name: thyrotoxic periodic paralysis, susceptibility to, 1 def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15119"} subset: predisposition synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580] synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580] synonym: "TTPP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188580] +xref: GARD:15119 {source="OMIM:188580"} xref: OMIM:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:188580"} xref: UMLS:C0268446 {source="MONDO:ncbi_mim2gene_medline"} @@ -159008,9 +160738,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008571 name: Blount disease, infantile +subset: gard_rare {source="GARD:15120"} synonym: "Blount disease, infantile" EXACT [OMIM:188700] synonym: "Osteochondrosis deformans tibiae, infantile" RELATED [OMIM:188700] synonym: "tibia vara, infantile" RELATED [OMIM:188700] +xref: GARD:15120 {source="OMIM:188700"} xref: OMIM:188700 {source="MONDO:equivalentTo"} xref: Orphanet:2768 {source="OMIM:188700"} xref: UMLS:C0175756 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -159022,6 +160754,7 @@ property_value: confidence "0.9259259259259258" xsd:double id: MONDO:0008572 name: tibia, hypoplasia or aplasia of, with polydactyly def: "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." [Orphanet:988] +subset: gard_rare {source="GARD:8309"} subset: ordo_malformation_syndrome {source="Orphanet:3332", source="Orphanet:988"} synonym: "absence of tibia with polydactyly" RELATED [GARD:0008309] synonym: "absent tibia-polydactyly syndrome" EXACT [MONDO:0020306] @@ -159034,6 +160767,7 @@ synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [Orphanet:988] synonym: "Werner mesomelic syndrome" EXACT [Orphanet:3332] xref: DOID:0111564 {source="MONDO:equivalentTo"} +xref: GARD:8309 {source="Orphanet:988"} xref: ICD10CM:Q74.8 {source="Orphanet:3332", source="Orphanet:3332/attributed", source="Orphanet:3332/ntbt"} xref: ICD10CM:Q87.2 {source="Orphanet:988/attributed", source="Orphanet:988/ntbt", source="Orphanet:988"} xref: MESH:C535564 {source="Orphanet:988", source="MONDO:equivalentTo", source="Orphanet:988/e"} @@ -159149,6 +160883,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008582 name: tooth and nail syndrome def: "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." [Orphanet:2228] +subset: gard_rare {source="GARD:5587"} subset: ordo_malformation_syndrome {source="Orphanet:2228"} synonym: "dysplasia of nails with hypodontia" RELATED [GARD:0005587] synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [OMIM:189500] @@ -159169,6 +160904,7 @@ synonym: "WITKOP syndrome" RELATED [OMIM:189500] synonym: "Witkop syndrome" EXACT [Orphanet:2228] synonym: "Witkop's syndrome" EXACT [DOID:6678] xref: DOID:6678 {source="MONDO:equivalentTo"} +xref: GARD:5587 {source="Orphanet:2228"} xref: ICD10CM:Q82.4 {source="Orphanet:2228", source="Orphanet:2228/attributed", source="Orphanet:2228/ntbt"} xref: MESH:C536736 {source="DOID:6678", source="MONDO:equivalentTo"} xref: NCIT:C40553 {source="DOID:6678", source="MONDO:equivalentTo"} @@ -159189,7 +160925,6 @@ property_value: confidence "4.833333333333334" xsd:double id: MONDO:0008583 name: inherited torticollis def: "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." [NCIT:C4811] -subset: gard_rare synonym: "congenital muscular torticollis" RELATED [GARD:0004908, MESH:C535425] synonym: "congenital sternomastoid torticollis" RELATED [] synonym: "congenital torticollis" EXACT [] @@ -159229,7 +160964,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008585 name: HELLP syndrome def: "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." [https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome] -subset: gard_rare {source="GARD:0008528"} +subset: gard_rare {source="GARD:8528"} subset: ordo_disease {source="Orphanet:244242"} synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800] synonym: "hemolysis, elevated liver enzymes, low platelets in pregnancy" EXACT [Orphanet:244242] @@ -159244,6 +160979,7 @@ synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "toxemia of pregnancy" RELATED [OMIM:189800] xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"} xref: EFO:0007297 {source="MONDO:equivalentTo"} +xref: GARD:8528 {source="Orphanet:244242"} xref: ICD10CM:O14.2 {source="Orphanet:244242", source="Orphanet:244242/e", source="DOID:13133"} xref: MedDRA:10049058 {source="Orphanet:244242", source="Orphanet:244242/e"} xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="EFO:0007297"} @@ -159266,6 +161002,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8528/hellp-s id: MONDO:0008586 name: esophageal atresia/tracheoesophageal fistula def: "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea." [Orphanet:1199] +subset: gard_rare {source="GARD:6381"} subset: ordo_morphological_anomaly {source="Orphanet:1199"} synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [DOID:0080171] synonym: "esophageal atresia with or without tracheoesophageal fistula" RELATED [OMIM:189960] @@ -159275,6 +161012,7 @@ synonym: "tracheoesophageal fistula" RELATED [GARD:0007792] synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [DOID:0080171] synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [OMIM:189960] xref: DOID:0080171 {source="MONDO:equivalentTo"} +xref: GARD:6381 {source="Orphanet:1199"} xref: ICD10CM:Q39.0 {source="Orphanet:1199", source="Orphanet:1199/e"} xref: ICD10CM:Q39.1 {source="Orphanet:1199", source="Orphanet:1199/e"} xref: MedDRA:10021530 {source="Orphanet:1199", source="Orphanet:1199/e"} @@ -159293,11 +161031,13 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0008587 name: tracheobronchopathia osteochondroplastica def: "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." [Orphanet:3348] +subset: gard_rare {source="GARD:5235"} subset: ordo_disease {source="Orphanet:3348"} synonym: "cartilaginous or bony projections into the tracheobronchial lumen" RELATED [GARD:0005235] synonym: "tracheobronchopathia osteochondroplastica" EXACT [OMIM:189961] synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235] synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348] +xref: GARD:5235 {source="Orphanet:3348"} xref: ICD10CM:J98.0 {source="Orphanet:3348", source="Orphanet:3348/ntbt"} xref: MESH:C536977 {source="MONDO:equivalentTo"} xref: OMIM:189961 {source="MONDO:equivalentTo", source="Orphanet:3348", source="Orphanet:3348/e"} @@ -159313,7 +161053,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0008588 name: hereditary geniospasm def: "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." [Orphanet:53372] -subset: gard_rare {source="GARD:0009501"} +subset: gard_rare {source="GARD:9501"} subset: ordo_disease {source="Orphanet:53372"} synonym: "familial trembling of the chin" EXACT [Orphanet:53372] synonym: "geniospasm" RELATED [GARD:0009501] @@ -159324,6 +161064,7 @@ synonym: "hereditary chin myoclonus" EXACT [Orphanet:53372] synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501] synonym: "hereditary chin-trembling" EXACT [Orphanet:53372] synonym: "trembling Chin" RELATED [OMIM:190100] +xref: GARD:9501 {source="Orphanet:53372"} xref: ICD10CM:G25.3 {source="Orphanet:53372/attributed", source="Orphanet:53372/ntbt", source="Orphanet:53372"} xref: MESH:C537682 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} xref: OMIM:190100 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} @@ -159374,12 +161115,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008591 name: tremor-nystagmus-duodenal ulcer syndrome -subset: gard_rare +subset: gard_rare {source="GARD:3948"} subset: ordo_disease {source="Orphanet:3350"} synonym: "Neuhauser Daly Magnelli syndrome" RELATED [GARD:0003948] synonym: "Neuhauser-Daly-Magnelli syndrome" EXACT [Orphanet:3350] synonym: "tremor nystagmus duodenal ulcer" RELATED [GARD:0003948] synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [OMIM:190310] +xref: GARD:3948 {source="Orphanet:3350"} xref: MESH:C536406 {source="MONDO:equivalentTo"} xref: OMIM:190310 {source="Orphanet:3350/e", source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350"} xref: Orphanet:3350 {source="OMIM:190310", source="MONDO:equivalentTo"} @@ -159392,7 +161134,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0008592 name: tricho-dento-osseous syndrome def: "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." [Orphanet:3352] -subset: gard_rare {source="GARD:0007799"} +subset: gard_rare {source="GARD:7799"} subset: ordo_malformation_syndrome {source="Orphanet:3352"} synonym: "enamel hypoplasia and hypocalcification with associated strikingly curly hair" RELATED [GARD:0007799] synonym: "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" RELATED [GARD:0005252] @@ -159403,6 +161145,7 @@ synonym: "Tricho-dento-osseous syndrome 1" RELATED [GARD:0005252] synonym: "TRICHODENTOOSSEOUS syndrome" RELATED [MONDO:Lexical, OMIM:190320] synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2] xref: DOID:0111565 {source="MONDO:equivalentTo"} +xref: GARD:7799 {source="Orphanet:3352"} xref: ICD10CM:Q82.4 {source="Orphanet:3352/attributed", source="Orphanet:3352/ntbt", source="Orphanet:3352"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536549 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="Orphanet:3352"} @@ -159439,6 +161182,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008594 name: familial multiple discoid fibromas def: "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." [Orphanet:538756] +subset: gard_rare {source="GARD:8479"} subset: ordo_disease synonym: "discoid fibromas, familial multiple" RELATED [MONDO:Lexical, OMIM:190340] synonym: "familial multiple trichodiscomas" RELATED [GARD:0008479] @@ -159447,6 +161191,7 @@ synonym: "hereditary multiple trichodiscomas" RELATED [GARD:0008479] synonym: "small benign fibrovascular tumor of the dermal part of the hair disk" RELATED [GARD:0008479] synonym: "small benign fibrovascular tumour of the dermal part of the hair disc" RELATED OMO:0003005 [] synonym: "trichodiscomas, familial multiple" RELATED [OMIM:190340] +xref: GARD:8479 {source="Orphanet:538756"} xref: MESH:C536847 {source="MONDO:equivalentTo"} xref: OMIM:190340 {source="Orphanet:538756", source="MONDO:equivalentTo"} xref: Orphanet:538756 {source="MONDO:equivalentTo"} @@ -159472,6 +161217,7 @@ relationship: disease_has_feature MONDO:0020593 ! trichoblastoma id: MONDO:0008596 name: trichorhinophalangeal syndrome type I def: "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." [PMID:10615131] +subset: gard_rare {source="GARD:7800"} synonym: "Giedion syndrome" RELATED [GARD:0007800] synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743] synonym: "trichorhinophalangeal dysplasia type I" RELATED [DOID:14743, MTH:NOCODE] @@ -159484,6 +161230,7 @@ synonym: "TRPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190350] synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743] synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743] xref: DOID:14743 {source="MONDO:equivalentTo"} +xref: GARD:7800 {source="OMIM:190350"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536820 {source="MONDO:equivalentTo", source="DOID:14743"} xref: NCIT:C75109 {source="MONDO:equivalentTo", source="DOID:14743"} @@ -159506,6 +161253,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008597 name: trichorhinophalangeal syndrome, type III def: "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [MONDO:cjm, PMID:4025405] +subset: gard_rare {source="GARD:7802"} synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351] synonym: "trichorhinophalangeal syndrome type 3" RELATED [GARD:0007802] synonym: "trichorhinophalangeal syndrome, type 3" RELATED [MONDO:Lexical] @@ -159513,6 +161261,7 @@ synonym: "trichorhinophalangeal syndrome, type III" EXACT [OMIM:190351] synonym: "TRPS 3" RELATED [GARD:0007802] synonym: "TRPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190351] xref: DOID:0080376 {source="MONDO:equivalentTo"} +xref: GARD:7802 {source="OMIM:190351"} xref: MESH:C566033 {source="MONDO:equivalentTo"} xref: OMIM:190351 {source="MONDO:equivalentTo"} xref: Orphanet:77258 {source="OMIM:190351"} @@ -159530,9 +161279,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008598 name: trichodysplasia-xeroderma syndrome def: "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." [Orphanet:3361] +subset: gard_rare {source="GARD:5261"} subset: ordo_malformation_syndrome {source="Orphanet:3361"} synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261] synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360] +xref: GARD:5261 {source="Orphanet:3361"} xref: MESH:C566032 {source="MONDO:equivalentTo"} xref: OMIM:190360 {source="Orphanet:3361/e", source="MONDO:equivalentTo", source="Orphanet:3361"} xref: Orphanet:3361 {source="MONDO:equivalentTo", source="OMIM:190360"} @@ -159544,7 +161295,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008599 name: trigeminal neuralgia def: "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." [https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia] -subset: gard_rare {source="GARD:0007805"} +subset: gard_rare {source="GARD:7805"} subset: ordo_disease {source="Orphanet:221091"} synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern] synonym: "Tic douloureux" RELATED [OMIM:190400] @@ -159554,6 +161305,7 @@ synonym: "trigeminal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM:350.1, OMIM:190400] xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"} xref: EFO:1001219 {source="MONDO:equivalentTo"} +xref: GARD:7805 {source="Orphanet:221091"} xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: ICD9:350.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12098"} xref: MedDRA:10044652 {source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} @@ -159577,7 +161329,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7805/trigemi id: MONDO:0008600 name: trigger thumb def: "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." [MESH:D052582] -subset: gard_rare {source="GARD:0008484"} synonym: "bilateral trigger thumb (type)" RELATED [GARD:0008484] synonym: "congenital trigger thumb (type)" RELATED [GARD:0008484] synonym: "recurrent trigger thumb (type)" RELATED [GARD:0008484] @@ -159612,12 +161363,14 @@ is_a: MONDO:0000155 {source="DC-OMIM:190430"} ! triglyceride storage disease id: MONDO:0008603 name: trigonocephaly 1 def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18558"} synonym: "craniosynostosis, metopic" RELATED [OMIM:190440] synonym: "FGFR1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated trigonocephaly caused by mutation in FGFR1" EXACT [MONDO:design_pattern] synonym: "TRIGNO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190440] synonym: "trigonocephaly 1" EXACT [MONDO:Lexical, OMIM:190440] synonym: "trigonocephaly type 1" EXACT [MONDORULE:1, OMIM:190440] +xref: GARD:18558 {source="OMIM:190440"} xref: OMIM:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="OMIM:190440"} xref: UMLS:C0432122 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:190440"} @@ -159654,7 +161407,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008606 name: Say-field-Coldwell syndrome def: "Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." [Orphanet:3133] -subset: gard_rare {source="GARD:0000242"} subset: ordo_malformation_syndrome {source="Orphanet:3133"} synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" RELATED [GARD:0000242] synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650] @@ -159672,12 +161424,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/242/say-fiel id: MONDO:0008607 name: triphalangeal thumbs-brachyectrodactyly syndrome def: "Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." [Orphanet:2947] +subset: gard_rare {source="GARD:5290"} subset: ordo_malformation_syndrome {source="Orphanet:2947"} synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [Orphanet:2947] synonym: "triphalangeal thumb and brachy-ectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290] synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680] +xref: GARD:5290 {source="Orphanet:2947"} xref: ICD10CM:Q74.8 {source="Orphanet:2947/attributed", source="Orphanet:2947/ntbt", source="Orphanet:2947"} xref: MESH:C536564 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} xref: OMIM:190680 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} @@ -159691,6 +161445,7 @@ id: MONDO:0008608 name: Down syndrome def: "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." [https://orcid.org/0000-0002-4142-7153, Orphanet:870] comment: May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future {source="EFO:0001064"} +subset: gard_rare {source="GARD:10247"} subset: ordo_malformation_syndrome {source="Orphanet:870"} synonym: "complete trisomy 21 syndrome" NARROW [DOID:14250] synonym: "Down syndrome" EXACT [NCIT:C2993, OMIM:190685] @@ -159709,6 +161464,7 @@ synonym: "trisomy 21 (Down syndrome)" EXACT [NCIT:C2993] synonym: "trisomy 21 syndrome" NARROW [DOID:14250, NCIT:C2993] xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"} xref: EFO:0001064 {source="MONDO:equivalentTo"} +xref: GARD:10247 {source="Orphanet:870"} xref: ICD10CM:Q90 {source="DOID:14250"} xref: ICD10CM:Q90.0 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} xref: ICD10CM:Q90.1 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} @@ -159764,6 +161520,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008610 name: blue color blindness def: "Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision." [Orphanet:88629] +subset: gard_rare {source="GARD:16768"} subset: ordo_disease {source="Orphanet:88629"} synonym: "blue color blindness" EXACT [Orphanet:88629] synonym: "blue colorblindness" RELATED [OMIM:190900] @@ -159775,6 +161532,7 @@ synonym: "tritan colour blindness" EXACT OMO:0003005 [] synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53] synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900] xref: DOID:11661 {source="MONDO:equivalentTo"} +xref: GARD:16768 {source="Orphanet:88629"} xref: ICD10CM:H53.5 {source="Orphanet:88629/inclusion", source="Orphanet:88629", source="Orphanet:88629/ntbt"} xref: ICD10CM:H53.55 {source="DOID:11661"} xref: ICD9:368.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11661"} @@ -159792,11 +161550,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008611 name: humerus trochlea aplasia def: "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." [Orphanet:3383] -subset: gard_rare {source="GARD:0002750"} +subset: gard_rare {source="GARD:2750"} subset: ordo_malformation_syndrome {source="Orphanet:3383"} synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750] synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750] synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000] +xref: GARD:2750 {source="Orphanet:3383"} xref: ICD10CM:Q74.0 {source="Orphanet:3383/attributed", source="Orphanet:3383/ntbt", source="Orphanet:3383"} xref: MESH:C566022 {source="MONDO:equivalentTo"} xref: OMIM:191000 {source="Orphanet:3383/e", source="MONDO:equivalentTo", source="Orphanet:3383"} @@ -159814,7 +161573,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2750/trochle id: MONDO:0008612 name: tuberous sclerosis 1 def: "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." [NCIT:C75122] -subset: gard_rare +subset: gard_rare {source="GARD:15121"} synonym: "TSC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191100] synonym: "TSC1 tuberous sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "tuberose sclerosis" RELATED [OMIM:191100] @@ -159825,6 +161584,7 @@ synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1, OMIM:191100] synonym: "tuberous sclerosis, type 1" RELATED [GARD:0005380] synonym: "tuberous sclerosis-1" EXACT [OMIM:191100, OMIM:genemap2] xref: DOID:0080324 {source="MONDO:equivalentTo"} +xref: GARD:15121 {source="OMIM:191100"} xref: MESH:C565346 {source="MONDO:equivalentTo"} xref: NCIT:C75122 {source="MONDO:equivalentTo"} xref: OMIM:191100 {source="GARD:0005380", source="MONDO:equivalentTo"} @@ -159911,6 +161671,7 @@ property_value: confidence "2.2000000000000006" xsd:double id: MONDO:0008618 name: mesomelic dwarfism, Reinhardt-Pfeiffer type def: "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." [Orphanet:2634] +subset: gard_rare {source="GARD:3555"} subset: ordo_malformation_syndrome {source="Orphanet:2634"} synonym: "hypoplasia of ulna and fibula" RELATED [GARD:0003555] synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [OMIM:191400] @@ -159918,6 +161679,7 @@ synonym: "mesomelic dysplasia Reinhardt-Pfeiffer type" RELATED [GARD:0003555] synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2634] synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634] synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400] +xref: GARD:3555 {source="Orphanet:2634"} xref: ICD10CM:Q78.8 {source="Orphanet:2634", source="Orphanet:2634/attributed", source="Orphanet:2634/ntbt"} xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} @@ -159935,7 +161697,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008619 name: ulna metaphyseal dysplasia syndrome def: "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." [Orphanet:1837] -subset: gard_rare {source="GARD:0004740"} +subset: gard_rare {source="GARD:4740"} subset: ordo_disease {source="Orphanet:1837"} synonym: "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" RELATED [GARD:0004740] synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [OMIM:191420] @@ -159943,6 +161705,7 @@ synonym: "metaphyseal chondroplasia Rosenberg type" RELATED [GARD:0004740] synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740] synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837] synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420] +xref: GARD:4740 {source="Orphanet:1837"} xref: ICD10CM:Q78.5 {source="Orphanet:1837/attributed", source="Orphanet:1837/ntbt", source="Orphanet:1837"} xref: MESH:C536935 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: OMIM:191420 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} @@ -159961,12 +161724,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4740/ulna-me id: MONDO:0008620 name: upper limb mesomelic dysplasia def: "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." [Orphanet:2497] +subset: gard_rare {source="GARD:2408"} subset: ordo_malformation_syndrome {source="Orphanet:2497"} synonym: "Fryns Hofkens Fabry syndrome" RELATED [GARD:0002408] synonym: "Fryns-Hofkens-Fabry syndrome" EXACT [Orphanet:2497] synonym: "ulna hypoplasia" RELATED [Orphanet:2497] synonym: "ulnar hypoplasia" RELATED [OMIM:191440] synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440] +xref: GARD:2408 {source="Orphanet:2497"} xref: ICD10CM:Q78.8 {source="Orphanet:2497/attributed", source="Orphanet:2497/ntbt", source="Orphanet:2497"} xref: MESH:C538069 {source="MONDO:equivalentTo"} xref: OMIM:191440 {source="Orphanet:2497", source="MONDO:equivalentTo", source="Orphanet:2497/e"} @@ -159983,13 +161748,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008621 name: uncombable hair syndrome def: "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." [Orphanet:1410] -subset: gard_rare {source="GARD:0005404"} +subset: gard_rare {source="GARD:5404"} subset: ordo_disease {source="Orphanet:1410"} synonym: "cheveux incoiffables" RELATED [GARD:0005404] synonym: "pili trianguli et canaliculi" EXACT [OMIM:191480, Orphanet:1410] synonym: "spun glass hair" RELATED [GARD:0005404] synonym: "uncombable hair syndrome" EXACT [OMIM:191480] synonym: "unmanageable hair syndrome" RELATED [GARD:0005404] +xref: GARD:5404 {source="Orphanet:1410"} xref: ICD10CM:Q84.1 {source="Orphanet:1410/attributed", source="Orphanet:1410/ntbt", source="Orphanet:1410"} xref: MESH:C536939 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"} @@ -160002,11 +161768,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5404/uncomba id: MONDO:0008622 name: tricho-retino-dento-digital syndrome def: "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." [Orphanet:1264] +subset: gard_rare {source="GARD:938"} subset: ordo_malformation_syndrome {source="Orphanet:1264"} synonym: "Bork Stender Schmidt syndrome" RELATED [GARD:0000938] synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264] synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482] synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264] +xref: GARD:938 {source="Orphanet:1264"} xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="Orphanet:1264/attributed", source="Orphanet:1264/ntbt"} xref: MESH:C536576 {source="MONDO:equivalentTo"} xref: OMIM:191482 {source="Orphanet:1264", source="MONDO:equivalentTo", source="Orphanet:1264/e"} @@ -160030,12 +161798,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008624 name: Upington disease def: "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." [Orphanet:3408] -subset: gard_rare {source="GARD:0005421"} +subset: gard_rare {source="GARD:5421"} subset: ordo_malformation_syndrome {source="Orphanet:3408"} synonym: "familial dyschondroplasia" RELATED [GARD:0005421] synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408] synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520] synonym: "Upington disease" EXACT [OMIM:191520] +xref: GARD:5421 {source="Orphanet:3408"} xref: ICD10CM:M91.8 {source="Orphanet:3408", source="Orphanet:3408/attributed", source="Orphanet:3408/ntbt"} xref: MESH:C536472 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: OMIM:191520 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} @@ -160156,7 +161925,6 @@ replaced_by: MONDO:0018470 id: MONDO:0008632 name: urticaria, aquagenic def: "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." [https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria] -subset: gard_rare {source="GARD:0010901"} synonym: "aquagenic urticaria" RELATED [GARD:0010901] synonym: "urticaria, aquagenic" EXACT [OMIM:191850] xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -160173,6 +161941,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10901/aquage id: MONDO:0008633 name: Muckle-Wells syndrome def: "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." [https://orcid.org/0000-0001-5208-3432, Orphanet:575] +subset: gard_rare {source="GARD:8472"} subset: ordo_disease {source="Orphanet:575"} synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [OMIM:191900] synonym: "Muckle Wells syndrome" RELATED [GARD:0008472] @@ -160184,6 +161953,7 @@ synonym: "Uda syndrome" RELATED [OMIM:191900] synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472] synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900] xref: DOID:0050854 {source="MONDO:equivalentTo"} +xref: GARD:8472 {source="Orphanet:575"} xref: ICD10CM:E85.0 {source="Orphanet:575/attributed", source="Orphanet:575/ntbt", source="Orphanet:575"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064569 {source="Orphanet:575/e", source="Orphanet:575"} @@ -160224,6 +161994,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008636 name: double uterus-hemivagina-renal agenesis syndrome def: "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." [Orphanet:3411] +subset: gard_rare {source="GARD:1910"} subset: ordo_malformation_syndrome {source="Orphanet:3411"} synonym: "Double uterus and obstructed hemivagina syndrome" EXACT [Orphanet:3411] synonym: "Herlyn-Werner syndrome" EXACT [Orphanet:3411] @@ -160231,6 +162002,7 @@ synonym: "obstructed hemivagina and ipsilateral renal anomaly" EXACT [Orphanet:3 synonym: "OHVIRA syndrome" EXACT [Orphanet:3411] synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050] synonym: "Wunderlich syndrome" EXACT [Orphanet:3411] +xref: GARD:1910 {source="Orphanet:3411"} xref: MESH:C566010 {source="MONDO:equivalentTo"} xref: OMIM:192050 {source="Orphanet:3411", source="MONDO:equivalentTo", source="Orphanet:3411/e"} xref: Orphanet:3411 {source="MONDO:equivalentTo", source="OMIM:192050"} @@ -160247,11 +162019,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008637 name: bifid uvula def: "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." [Orphanet:99771] +subset: gard_rare {source="GARD:19687"} subset: ordo_morphological_anomaly {source="Orphanet:99771"} synonym: "bifidity of the uvula" EXACT [Orphanet:99771] synonym: "uvula, bifid" RELATED [OMIM:192100] synonym: "uvula, cleft" RELATED [OMIM:192100] synonym: "uvular cleft" EXACT [Orphanet:99771] +xref: GARD:19687 {source="Orphanet:99771"} xref: ICD10CM:Q35.7 {source="Orphanet:99771/e", source="Orphanet:99771"} xref: OMIM:192100 {source="MONDO:equivalentTo"} xref: Orphanet:99771 {source="MONDO:equivalentTo"} @@ -160303,7 +162077,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008640 name: vasculitis, lymphocytic, nodular def: "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." [GARD:0006941] -subset: gard_rare synonym: "lymphocytic vasculitis" RELATED [GARD:0006941] synonym: "vasculitis lymphocytic, nodular" RELATED [GARD:0006941] synonym: "vasculitis, lymphocytic, nodular" EXACT [OMIM:192310] @@ -160321,7 +162094,7 @@ id: MONDO:0008641 name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations def: "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." [Orphanet:247691] comment: Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 -subset: gard_rare +subset: gard_rare {source="GARD:1217"} subset: ordo_disease {source="Orphanet:247691"} synonym: "ADRVCL" RELATED ABBREVIATION [GARD:0001217] synonym: "autosomal dominant retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217] @@ -160340,6 +162113,7 @@ synonym: "RVCL-S" EXACT [Orphanet:247691] synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical, OMIM:192315] synonym: "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" EXACT [OMIM:192315, OMIM:genemap2] xref: DOID:0111567 {source="MONDO:equivalentTo"} +xref: GARD:1217 {source="Orphanet:247691"} xref: MESH:C566007 {source="MONDO:equivalentTo"} xref: OMIM:192315 {source="Orphanet:247691/e", source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691"} xref: Orphanet:247691 {source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217"} @@ -160366,6 +162140,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2558/grand-k id: MONDO:0008642 name: VACTERL/vater association def: "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [Orphanet:887] +subset: gard_rare {source="GARD:5443"} subset: ordo_malformation_syndrome {source="Orphanet:887"} synonym: "VACTERL association" EXACT [MONDO:0002007, Orphanet:887] synonym: "VATER association" EXACT [Orphanet:887] @@ -160373,6 +162148,7 @@ synonym: "VATER syndrome" RELATED [DOID:14679] synonym: "VATER/VACTERL association" RELATED [OMIM:192350] synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105] xref: DOID:14679 {source="MONDO:equivalentTo"} +xref: GARD:5443 {source="Orphanet:887"} xref: ICD10CM:Q87.2 {source="DOID:14679", source="Orphanet:887/inclusion", source="Orphanet:887", source="Orphanet:887/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053665 {source="Orphanet:887", source="Orphanet:887/e"} @@ -160402,6 +162178,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008644 name: velocardiofacial syndrome def: "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." [DOID:12583, PMID:PMID%3A+19243607] +subset: gard_rare {source="GARD:15123"} synonym: "22q11 deletion syndrome" EXACT [DOID:12583] synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:192430] synonym: "deletion 22q11.2 syndrome" EXACT [DOID:12583] @@ -160411,6 +162188,7 @@ synonym: "VCF syndrome" EXACT [OMIM:192430] synonym: "VCF-velocardiofacial syndrome" EXACT [DOID:12583] synonym: "velocardiofacial syndrome" EXACT CLINGEN_PREFERRED [OMIM:192430] xref: DOID:12583 {source="MONDO:equivalentTo"} +xref: GARD:15123 {source="OMIM:192430"} xref: ICD10CM:Q93.81 {source="DOID:12583"} xref: ICD9:758.32 {source="DOID:12583"} xref: MESH:D004062 {source="DOID:12583", source="MONDO:directSiblingOf"} @@ -160428,11 +162206,13 @@ property_value: confidence "0.6726012650301525" xsd:double id: MONDO:0008645 name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome def: "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." [Orphanet:3201] +subset: gard_rare {source="GARD:5472"} subset: ordo_malformation_syndrome {source="Orphanet:3201"} synonym: "Stoll-Kieny-Dott syndrome" EXACT [Orphanet:3201] synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445] +xref: GARD:5472 {source="Orphanet:3201"} xref: ICD10CM:Q87.8 {source="Orphanet:3201/attributed", source="Orphanet:3201/ntbt", source="Orphanet:3201"} xref: MESH:C537497 {source="MONDO:equivalentTo"} xref: OMIM:192445 {source="Orphanet:3201", source="MONDO:equivalentTo", source="Orphanet:3201/e"} @@ -160516,7 +162296,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008650 name: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome def: "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." [Orphanet:2064] -subset: gard_rare +subset: gard_rare {source="GARD:2276"} subset: ordo_malformation_syndrome {source="Orphanet:2064"} synonym: "congenital ptosis and posterior fusion of lumbosacral vertebrae" RELATED [GARD:0005487] synonym: "familial posterior lumbosacral vertebral fusion and eyelid ptosis" RELATED [GARD:0005487] @@ -160524,6 +162304,7 @@ synonym: "Faulk Epstein Jones syndrome" RELATED [GARD:0002276] synonym: "Faulk-Epstein-Jones syndrome" EXACT [Orphanet:2064] synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0005487] synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800] +xref: GARD:2276 {source="Orphanet:2064"} xref: ICD10CM:Q87.5 {source="Orphanet:2064/attributed", source="Orphanet:2064/ntbt", source="Orphanet:2064"} xref: MESH:C536344 {source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} xref: OMIM:192800 {source="GARD:0002276", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} @@ -160551,7 +162332,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008652 name: congenital vertical talus def: "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." [Orphanet:178382] -subset: gard_rare {source="GARD:0005488"} +subset: gard_rare {source="GARD:5488"} subset: ordo_morphological_anomaly {source="Orphanet:178382"} synonym: "Charcot-Marie-Tooth disease, foot deformity of" EXACT [OMIM:192950, OMIM:genemap2] synonym: "congenital convex foot" EXACT [Orphanet:178382] @@ -160565,6 +162346,7 @@ synonym: "rocker-bottom foot deformity" RELATED [GARD:0005488] synonym: "vertical talus" RELATED [GARD:0005488] synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950] xref: DOID:0111568 {source="MONDO:equivalentTo"} +xref: GARD:5488 {source="Orphanet:178382"} xref: ICD10CM:Q66.8 {source="Orphanet:178382/ntbt", source="Orphanet:178382/inclusion", source="Orphanet:178382"} xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066242 {source="Orphanet:178382/e", source="Orphanet:178382"} @@ -160582,10 +162364,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5488/congeni [Term] id: MONDO:0008653 name: vesicoureteral reflux 1 +subset: gard_rare {source="GARD:18418"} synonym: "Vesicoureteral reflux" EXACT [OMIM:193000, OMIM:genemap2] synonym: "vesicoureteral reflux 1" EXACT [MONDO:Lexical, OMIM:193000] synonym: "VUR" RELATED ABBREVIATION [OMIM:193000] synonym: "VUR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193000] +xref: GARD:18418 {source="OMIM:193000"} xref: OMIM:193000 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:193000"} xref: UMLS:C0042580 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:193000"} @@ -160610,7 +162394,6 @@ property_value: confidence "5.0" xsd:double [Term] id: MONDO:0008655 name: vestibulocochlear dysfunction, progressive -subset: gard_rare {source="GARD:0005489"} synonym: "familial progressive vestibulocochlear dysfunction" RELATED [GARD:0005489] synonym: "vestibulocochlear dysfunction, progressive" EXACT [OMIM:193005] xref: MESH:C536346 {source="MONDO:equivalentTo"} @@ -160650,7 +162433,7 @@ is_obsolete: true [Term] id: MONDO:0008659 name: transcobalamin I deficiency -subset: gard_rare {source="GARD:0005239"} +subset: gard_rare {source="GARD:4522"} subset: ordo_disease {source="Orphanet:2967"} synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [OMIM:193090] synonym: "cobalamin R Binder Protein deficiency" RELATED [OMIM:193090] @@ -160662,6 +162445,7 @@ synonym: "transcobalamin 1 deficiency" RELATED [GARD:0005239] synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM:193090] synonym: "transcobalamin I deficiency" EXACT [OMIM:193090] synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967] +xref: GARD:4522 {source="Orphanet:2967"} xref: ICD10CM:E53.8 {source="Orphanet:2967/attributed", source="Orphanet:2967/ntbt", source="Orphanet:2967"} xref: MESH:C562798 {source="MONDO:equivalentTo"} xref: OMIM:193090 {source="Orphanet:2967/e", source="MONDO:equivalentTo", source="Orphanet:2967"} @@ -160677,6 +162461,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5239/transco id: MONDO:0008660 name: autosomal dominant hypophosphatemic rickets def: "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." [Orphanet:89937] +subset: gard_rare {source="GARD:16781"} subset: ordo_disease {source="Orphanet:89937"} synonym: "ADHR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193100, Orphanet:89937] synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] @@ -160687,6 +162472,7 @@ synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100] synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100] synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100] xref: DOID:0050948 {source="MONDO:equivalentTo"} +xref: GARD:16781 {source="Orphanet:89937"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89937", source="Orphanet:89937/attributed", source="Orphanet:89937/ntbt"} xref: MESH:C562791 {source="MONDO:equivalentTo"} xref: OMIM:193100 {source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948", source="Orphanet:89937/e"} @@ -160728,6 +162514,7 @@ is_a: MONDO:0007179 {source="DC-OMIM:193200", source="DOID:12306", source="EFO:0 id: MONDO:0008662 name: autosomal dominant vitreoretinochoroidopathy def: "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." [Orphanet:3086] +subset: gard_rare {source="GARD:5507"} subset: ordo_disease {source="Orphanet:3086"} synonym: "ADVIRC" EXACT ABBREVIATION [Orphanet:3086] synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [OMIM:193220] @@ -160739,6 +162526,7 @@ synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" REL synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193220] synonym: "VRCP autosomal dominant" RELATED [GARD:0005507] xref: DOID:0111569 {source="MONDO:equivalentTo"} +xref: GARD:5507 {source="Orphanet:3086"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086/attributed", source="Orphanet:3086/ntbt", source="Orphanet:3086"} xref: MESH:C536352 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: OMIM:193220 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} @@ -160757,13 +162545,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008663 name: snowflake vitreoretinal degeneration def: "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36." [Orphanet:91496] -subset: gard_rare {source="GARD:0009706"} +subset: gard_rare {source="GARD:9706"} subset: ordo_disease {source="Orphanet:91496"} synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" RELATED [GARD:0009706] synonym: "snowflake vitreoretinal degeneration" EXACT [OMIM:193230] synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193230] synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230] xref: DOID:0111570 {source="MONDO:equivalentTo"} +xref: GARD:9706 {source="Orphanet:91496"} xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"} xref: MESH:C536677 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} @@ -160786,11 +162575,13 @@ replaced_by: MONDO:0006928 id: MONDO:0008665 name: ptosis-vocal cord paralysis syndrome def: "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." [Orphanet:2997] +subset: gard_rare {source="GARD:427"} subset: ordo_malformation_syndrome {source="Orphanet:2997"} synonym: "congenital bilateral recurrent nerve paralysis and ptosis" RELATED [GARD:0000427] synonym: "ptosis vocal cord paralysis" RELATED [GARD:0000427] synonym: "tucker syndrome" EXACT [Orphanet:2997] synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240] +xref: GARD:427 {source="Orphanet:2997"} xref: MESH:C536923 {source="MONDO:equivalentTo"} xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="Orphanet:2997/e"} xref: Orphanet:2997 {source="MONDO:equivalentTo", source="OMIM:193240"} @@ -160821,7 +162612,7 @@ id: MONDO:0008667 name: von Hippel-Lindau disease def: "A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." [https://orcid.org/0000-0001-5208-3432, Orphanet:892] subset: clingen -subset: gard_rare {source="GARD:0007855"} +subset: gard_rare {source="GARD:7855"} subset: ordo_disease {source="Orphanet:892"} synonym: "cerebroretinal angiomatosis" EXACT [NCIT:C3105] synonym: "familial cerebelloretinal angiomatosis" EXACT [Orphanet:892] @@ -160837,6 +162628,7 @@ synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [DOID:14175, NCIT:C3105] synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [OMIM:193300, OMIM:genemap2] synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300] xref: DOID:14175 {source="MONDO:equivalentTo"} +xref: GARD:7855 {source="Orphanet:892"} xref: ICD10CM:Q85.8 {source="DOID:14175", source="Orphanet:892/ntbt", source="Orphanet:892/inclusion", source="Orphanet:892"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047716 {source="Orphanet:892/e", source="Orphanet:892"} @@ -160865,6 +162657,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7855/von-hip id: MONDO:0008668 name: von Willebrand disease 1 def: "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166078] +subset: gard_rare {source="GARD:17019"} subset: ordo_clinical_subtype {source="Orphanet:166078"} synonym: "von Willebrand disease 1" EXACT CLINGEN_PREFERRED [] synonym: "von Willebrand disease type 1" EXACT [DOID:0060573] @@ -160877,6 +162670,7 @@ synonym: "VWD type 1" EXACT [DOID:0060573] synonym: "VWD, type 1" RELATED [OMIM:193400] synonym: "VWD1" EXACT ABBREVIATION [DOID:0060573, MONDO:Lexical, OMIM:193400] xref: DOID:0060573 {source="MONDO:equivalentTo"} +xref: GARD:17019 {source="Orphanet:166078"} xref: ICD10CM:D68.0 {source="Orphanet:166078/attributed", source="Orphanet:166078/ntbt", source="DOID:0060573", source="Orphanet:166078"} xref: MESH:D056725 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"} xref: NCIT:C131685 {source="MONDO:equivalentTo"} @@ -160905,7 +162699,7 @@ relationship: realized_in_response_to_stimulus UBERON:0006530 {source="https://o id: MONDO:0008670 name: Waardenburg syndrome type 1 def: "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." [Orphanet:894] -subset: gard_rare {source="GARD:0005519"} +subset: gard_rare {source="GARD:5519"} subset: ordo_clinical_subtype {source="Orphanet:894"} synonym: "Waardenburg syndrome type 1" EXACT CLINGEN_PREFERRED [] synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, Orphanet:894] @@ -160914,6 +162708,7 @@ synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical, OMIM:193500] synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519] synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894] xref: DOID:0110948 {source="MONDO:equivalentTo"} +xref: GARD:5519 {source="Orphanet:894"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:894/attributed", source="Orphanet:894/ntbt", source="DOID:0110948", source="Orphanet:894"} xref: NCIT:C75008 {source="MONDO:equivalentTo"} xref: OMIM:193500 {source="Orphanet:894/e", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"} @@ -160930,7 +162725,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5519/waarden id: MONDO:0008671 name: Waardenburg syndrome type 2A def: "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." [NCIT:C75011] -subset: gard_rare {source="GARD:0005521"} synonym: "MITF Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome type 2 caused by mutation in MITF" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type 2A" EXACT CLINGEN_PREFERRED [] @@ -160959,7 +162753,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5521/waarden id: MONDO:0008672 name: Watson syndrome def: "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." [https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome] -subset: gard_rare {source="GARD:0005540"} synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [OMIM:193520] synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520] synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520] @@ -160979,6 +162772,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5540/watson- id: MONDO:0008673 name: acrofacial dysostosis, Weyers type def: "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." [Orphanet:952] +subset: gard_rare {source="GARD:497"} subset: ordo_malformation_syndrome {source="Orphanet:952"} synonym: "acrodental dysostosis of Weyers" RELATED [OMIM:193530] synonym: "acrofacial dysostosis of Weyers" RELATED [GARD:0000497] @@ -160988,6 +162782,7 @@ synonym: "wad" RELATED [MONDO:Lexical, OMIM:193530] synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952] synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952] xref: DOID:0111571 {source="MONDO:equivalentTo"} +xref: GARD:497 {source="Orphanet:952"} xref: ICD10CM:Q75.4 {source="Orphanet:952/attributed", source="Orphanet:952/ntbt", source="Orphanet:952"} xref: ICD9:520.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} @@ -161013,6 +162808,7 @@ replaced_by: MONDO:0023880 id: MONDO:0008675 name: Freeman-Sheldon syndrome def: "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." [https://orcid.org/0000-0001-5208-3432, Orphanet:2053] +subset: gard_rare {source="GARD:6466"} subset: ordo_malformation_syndrome {source="Orphanet:2053"} synonym: "arthrogryposis distal type 2A" RELATED [GARD:0006466] synonym: "arthrogryposis, distal, type 2A" RELATED [MONDO:Lexical, OMIM:193700] @@ -161033,6 +162829,7 @@ synonym: "whistling-face syndrome" EXACT [NCIT:C98931] synonym: "windmill-vane-hand syndrome" EXACT [NCIT:C98931] xref: DOID:0111604 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111605 {source="MONDO:equivalentTo"} +xref: GARD:6466 {source="Orphanet:2053"} xref: ICD10CM:Q87.0 {source="DOID:0111604", source="Orphanet:2053/attributed", source="Orphanet:2053/ntbt", source="Orphanet:2053"} xref: MESH:C535483 {source="DOID:0111604", source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"} xref: NCIT:C98931 {source="DOID:0111604", source="MONDO:equivalentTo"} @@ -161090,6 +162887,7 @@ consider: HP:0000349 id: MONDO:0008678 name: Williams syndrome def: "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" [https://orcid.org/0000-0001-5208-3432, Orphanet:904] +subset: gard_rare {source="GARD:7891"} subset: ordo_malformation_syndrome {source="Orphanet:904"} synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [OMIM:194050] synonym: "deletion 7q11.23" EXACT [Orphanet:904] @@ -161102,6 +162900,7 @@ synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232] synonym: "WMS" RELATED ABBREVIATION [GARD:0007891] xref: DECIPHER:3 {source="MONDO:equivalentTo"} xref: DOID:1928 {source="MONDO:equivalentTo"} +xref: GARD:7891 {source="Orphanet:904"} xref: ICD10CM:Q87.8 {source="Orphanet:904", source="Orphanet:904/attributed", source="Orphanet:904/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049644 {source="Orphanet:904", source="Orphanet:904/e"} @@ -161131,6 +162930,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008679 name: Wilms tumor 1 +subset: gard_rare {source="GARD:15124"} synonym: "nephroblastoma" RELATED [OMIM:194070] synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407] synonym: "renal Wilms tumour" BROAD OMO:0003005 [] @@ -161143,6 +162943,7 @@ synonym: "Wilms tumour type 1" EXACT OMO:0003005 [] synonym: "Wilms' tumor" BROAD [DOID:2154] synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194070] +xref: GARD:15124 {source="OMIM:194070"} xref: MESH:D009396 {source="DOID:2154"} xref: NCIT:C27730 {source="DOID:2154", source="MONDO:directSiblingOf"} xref: NCIT:C3267 {source="DOID:2154"} @@ -161164,7 +162965,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008680 name: Wilms tumor 2 -subset: gard_rare +subset: gard_rare {source="GARD:8559"} synonym: "familial Wilms tumor 2" RELATED [GARD:0008559] synonym: "familial Wilms tumour 2" RELATED OMO:0003005 [] synonym: "FWT2" RELATED ABBREVIATION [GARD:0008559] @@ -161174,6 +162975,7 @@ synonym: "Wilms tumor type 2" EXACT [MONDORULE:1, OMIM:194071] synonym: "Wilms tumour 2, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] synonym: "Wilms tumour type 2" EXACT OMO:0003005 [] synonym: "WT2" RELATED ABBREVIATION [MESH:C536853, MONDO:Lexical, OMIM:194071] +xref: GARD:8559 {source="OMIM:194071"} xref: MESH:C536853 {source="MONDO:equivalentTo"} xref: OMIM:194071 {source="MONDO:equivalentTo"} xref: OMIM:605982 {source="GARD:0008559", source="MONDO:equivalentObsolete"} @@ -161190,7 +162992,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8559/familia id: MONDO:0008681 name: WAGR syndrome def: "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." [Orphanet:893] -subset: gard_rare {source="GARD:0005528"} +subset: gard_rare {source="GARD:5528"} subset: ordo_malformation_syndrome {source="Orphanet:893"} synonym: "11p deletion" RELATED [GARD:0001732] synonym: "11p deletion syndrome" RELATED [GARD:0005528] @@ -161223,6 +163025,7 @@ synonym: "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome" synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELATED DEPRECATED [GARD:0005528] xref: DECIPHER:35 {source="MONDO:equivalentTo"} xref: DOID:14515 {source="MONDO:equivalentTo"} +xref: GARD:5528 {source="Orphanet:893"} xref: ICD10CM:Q87.8 {source="Orphanet:893/attributed", source="Orphanet:893/ntbt", source="Orphanet:893"} xref: MESH:C538295 {source="Orphanet:893/e", source="Orphanet:893"} xref: MESH:D017624 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} @@ -161253,6 +163056,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5528/wagr-sy id: MONDO:0008682 name: Denys-Drash syndrome def: "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." [Orphanet:220] +subset: gard_rare {source="GARD:5576"} subset: ordo_disease {source="Orphanet:220"} synonym: "DDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194080] synonym: "Denys Drash syndrome" EXACT [NCIT:C84668] @@ -161270,6 +163074,7 @@ synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220] synonym: "Wilms tumour and pseudo- or true hermaphroditism" RELATED OMO:0003005 [] synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 [] xref: DOID:3764 {source="MONDO:equivalentTo"} +xref: GARD:5576 {source="Orphanet:220"} xref: ICD10CM:N04.1 {source="Orphanet:220/attributed", source="Orphanet:220/ntbt", source="Orphanet:220"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070179 {source="Orphanet:220/e", source="Orphanet:220"} @@ -161297,9 +163102,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008683 name: Wilms tumor 3 +subset: gard_rare {source="GARD:15125"} synonym: "Wilms tumor 3" EXACT [MONDO:Lexical, OMIM:194090] synonym: "Wilms tumor, type 3" EXACT [OMIM:194090, OMIM:genemap2] synonym: "WT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194090] +xref: GARD:15125 {source="OMIM:194090"} xref: MESH:C565991 {source="MONDO:equivalentTo"} xref: OMIM:194090 {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="OMIM:194090"} @@ -161313,7 +163120,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008684 name: Wolf-Hirschhorn syndrome def: "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." [Orphanet:280] -subset: gard_rare {source="GARD:0007896"} +subset: gard_rare {source="GARD:7896"} subset: ordo_malformation_syndrome {source="Orphanet:280"} synonym: "4p deletion syndrome" EXACT [DOID:0050460] synonym: "4p syndrome" RELATED [GARD:0007896] @@ -161334,6 +163141,7 @@ synonym: "Wolf-Hirschhorn syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [OMIM:194190, OMIM:genemap2] xref: DECIPHER:1 {source="MONDO:equivalentTo"} xref: DOID:0050460 {source="MONDO:equivalentTo"} +xref: GARD:7896 {source="Orphanet:280"} xref: ICD10CM:Q93.3 {source="Orphanet:280/inclusion", source="Orphanet:280", source="MONDO:directSiblingOf", source="Orphanet:280/ntbt", source="DOID:0050460"} xref: MedDRA:10050361 {source="Orphanet:280", source="Orphanet:280/e"} xref: MESH:C536740 {source="Orphanet:280", source="Orphanet:280/e"} @@ -161407,6 +163215,7 @@ property_value: IAO:0000589 "Wolff-Parkinson-white syndrome (disease)" xsd:strin id: MONDO:0008686 name: isolated familial wooly hair disorder def: "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." [Orphanet:170] +subset: gard_rare {source="GARD:5597"} subset: ordo_disease {source="Orphanet:170"} synonym: "ADWH" RELATED ABBREVIATION [OMIM:194300] synonym: "familial woolly hair (autosomal recessive)" RELATED OMO:0003005 [] @@ -161424,6 +163233,7 @@ synonym: "wooly hair" EXACT [MONDO:ambiguous, Orphanet:170] synonym: "wooly hair syndrome" RELATED [GARD:0005597] synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300] xref: DOID:0111572 {source="MONDO:equivalentTo"} +xref: GARD:5597 {source="Orphanet:170"} xref: HP:0002224 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.1 {source="Orphanet:170", source="Orphanet:170/index", source="Orphanet:170/ntbt"} xref: MedDRA:10048017 {source="Orphanet:170", source="Orphanet:170/e"} @@ -161449,13 +163259,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008688 name: WT limb-blood syndrome def: "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." [Orphanet:3466] -subset: gard_rare {source="GARD:0000039"} +subset: gard_rare {source="GARD:39"} subset: ordo_disease {source="Orphanet:3466"} synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia" RELATED OMO:0003005 [] synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039] synonym: "WT limb blood syndrome" RELATED [GARD:0000039] synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] synonym: "WTsyndrome" RELATED [GARD:0000039] +xref: GARD:39 {source="Orphanet:3466"} xref: ICD10CM:D61.0 {source="Orphanet:3466", source="Orphanet:3466/attributed", source="Orphanet:3466/ntbt"} xref: MESH:C536751 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: OMIM:194350 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} @@ -161469,7 +163280,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/39/wt-limb-b [Term] id: MONDO:0008689 name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema -subset: gard_rare +subset: gard_rare {source="GARD:15126"} synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380] synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [OMIM:194380] synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380] @@ -161487,6 +163298,7 @@ synonym: "pseudohyperkalemia Edinburgh" RELATED [OMIM:194380] synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [OMIM:194380] synonym: "xerocytosis, hereditary" RELATED [OMIM:194380] xref: DOID:0111576 {source="MONDO:equivalentTo"} +xref: GARD:15126 {source="OMIM:194380"} xref: OMIM:194380 {source="MONDO:equivalentTo"} xref: OMIM:603528 {source="GARD:0010676", source="MONDO:obsolete"} xref: Orphanet:3202 {source="OMIM:194380"} @@ -161524,6 +163336,7 @@ is_a: MONDO:0003847 {source="OMIM:194470/inferred"} ! hereditary disease id: MONDO:0008692 name: abetalipoproteinemia def: "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." [Orphanet:14] +subset: gard_rare {source="GARD:15127", source="GARD:5"} subset: ordo_disease {source="Orphanet:14"} synonym: "abetalipoproteinemia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:200100] synonym: "abetalipoproteinemia neuropathy" RELATED [GARD:0000005] @@ -161541,6 +163354,8 @@ synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [OMIM:200 synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [DOID:1386] synonym: "MTP deficiency" RELATED [OMIM:200100] xref: DOID:1386 {source="MONDO:equivalentTo"} +xref: GARD:15127 {source="OMIM:200100"} +xref: GARD:5 {source="Orphanet:14"} xref: ICD10CM:E78.6 {source="Orphanet:14/ntbt", source="DOID:1386", source="Orphanet:14/inclusion", source="Orphanet:14"} xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"} xref: NCIT:C84525 {source="DOID:1386", source="MONDO:equivalentTo"} @@ -161564,13 +163379,14 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0008693 name: ablepharon macrostomia syndrome def: "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." [Orphanet:920] -subset: gard_rare +subset: gard_rare {source="GARD:3"} subset: ordo_malformation_syndrome {source="Orphanet:920"} synonym: "ablepharon-macrostomia syndrome" RELATED [MONDO:Lexical, OMIM:200110] synonym: "AMS" RELATED ABBREVIATION [GARD:0000003, MONDO:Lexical, OMIM:200110] synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" RELATED [GARD:0000003] synonym: "poikiloderma with neutropenia, Clericuzio type" RELATED EXCLUDE [DOID:0060550] xref: DOID:0060550 {source="MONDO:equivalentTo"} +xref: GARD:3 {source="Orphanet:920"} xref: ICD10CM:Q87.0 {source="Orphanet:920", source="Orphanet:920/attributed", source="Orphanet:920/ntbt"} xref: MESH:C535557 {source="DOID:0060550", source="Orphanet:920", source="MONDO:equivalentTo", source="Orphanet:920/e"} xref: OMIM:200110 {source="DOID:0060550", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo", source="Orphanet:920/e"} @@ -161587,7 +163403,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008694 name: pseudoprogeria syndrome def: "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." [Orphanet:2985] -subset: gard_rare {source="GARD:0000415"} +subset: gard_rare {source="GARD:415"} subset: ordo_malformation_syndrome {source="Orphanet:2985"} synonym: "absent eyebrows and eyelashes with intellectual disability" RELATED [OMIM:200130] synonym: "absent eyebrows and eyelashes with mental retardation" RELATED DEPRECATED [OMIM:200130] @@ -161597,6 +163413,7 @@ synonym: "Hal-Berg-Rudolph syndrome" EXACT [Orphanet:2985] synonym: "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED [GARD:0000415] synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED DEPRECATED [GARD:0000415] synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130] +xref: GARD:415 {source="Orphanet:2985"} xref: ICD10CM:Q87.8 {source="Orphanet:2985", source="Orphanet:2985/attributed", source="Orphanet:2985/ntbt"} xref: MESH:C563111 {source="MONDO:equivalentTo"} xref: OMIM:200130 {source="MONDO:equivalentTo", source="Orphanet:2985", source="Orphanet:2985/e"} @@ -161616,6 +163433,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/415/pseudopr id: MONDO:0008695 name: chorea-acanthocytosis def: "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." [Orphanet:2388] +subset: gard_rare {source="GARD:3956"} subset: ordo_disease {source="Orphanet:2388"} synonym: "acanthocytosis with neurologic disorder" RELATED [OMIM:200150] synonym: "Chac" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388] @@ -161628,6 +163446,7 @@ synonym: "choreoacanthocytosis" EXACT [DOID:0050766, MONDO:Lexical, OMIM:200150] synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet:2388] synonym: "neuroacanthocytosis" RELATED [OMIM:200150] xref: DOID:0050766 {source="MONDO:equivalentTo"} +xref: GARD:3956 {source="Orphanet:2388"} xref: ICD10CM:E78.6 {source="Orphanet:2388", source="Orphanet:2388/attributed", source="Orphanet:2388/ntbt", source="DOID:0050766"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:200150 {source="Orphanet:2388", source="DOID:0050766", source="MONDO:equivalentTo", source="Orphanet:2388/e"} @@ -161646,10 +163465,12 @@ property_value: confidence "17.999999999999996" xsd:double id: MONDO:0008696 name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome def: "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." [Orphanet:90301] +subset: gard_rare {source="GARD:453"} subset: ordo_disease {source="Orphanet:90301"} synonym: "acanthosis nigricans muscle cramps acral enlargement" RELATED [GARD:0000453] synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [OMIM:200170] synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453] +xref: GARD:453 {source="Orphanet:90301"} xref: MESH:C536000 {source="MONDO:equivalentTo"} xref: OMIM:200170 {source="MONDO:equivalentTo", source="Orphanet:90301", source="Orphanet:90301/e"} xref: Orphanet:90301 {source="MONDO:equivalentTo", source="OMIM:200170"} @@ -161708,11 +163529,12 @@ property_value: IAO:0000589 "achalasia (disease)" xsd:string id: MONDO:0008699 name: achalasia microcephaly syndrome def: "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." [Orphanet:929] -subset: gard_rare {source="GARD:0000456"} +subset: gard_rare {source="GARD:456"} subset: ordo_malformation_syndrome {source="Orphanet:929"} synonym: "achalasia microcephaly" EXACT [DOID:0050796] synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450] xref: DOID:0050796 {source="MONDO:equivalentTo"} +xref: GARD:456 {source="Orphanet:929"} xref: ICD10CM:Q39.5 {source="Orphanet:929/attributed", source="Orphanet:929/ntbt", source="Orphanet:929"} xref: MESH:C536010 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} xref: OMIM:200450 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} @@ -161729,6 +163551,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/456/achalasi id: MONDO:0008700 name: acheiropody def: "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." [Orphanet:931] +subset: gard_rare {source="GARD:376"} subset: ordo_morphological_anomaly {source="Orphanet:931"} synonym: "acheiropodia" EXACT [DOID:0050603, OMIM:200500] synonym: "acheiropody" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:200500, Orphanet:931] @@ -161736,6 +163559,7 @@ synonym: "acheiropody, Brazilian type" RELATED [OMIM:200500] synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200500] synonym: "horn-Kolb syndrome" EXACT [DOID:0050603] xref: DOID:0050603 {source="MONDO:equivalentTo"} +xref: GARD:376 {source="Orphanet:931"} xref: ICD10CM:Q74.8 {source="Orphanet:931", source="Orphanet:931/attributed", source="Orphanet:931/ntbt"} xref: MESH:C536014 {source="Orphanet:931", source="MONDO:equivalentTo", source="Orphanet:931/e"} xref: OMIM:200500 {source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603", source="Orphanet:931/e"} @@ -161753,6 +163577,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008701 name: achondrogenesis type IA def: "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." [Orphanet:93299] +subset: gard_rare {source="GARD:459"} subset: ordo_clinical_subtype {source="Orphanet:93299"} synonym: "ACG1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200600] synonym: "achondrogenesis Houston-Harris type" EXACT [DOID:0080054] @@ -161762,6 +163587,7 @@ synonym: "achondrogenesis, type 1A" RELATED [OMIM:200600] synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600] synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459] xref: DOID:0080054 {source="MONDO:equivalentTo"} +xref: GARD:459 {source="Orphanet:93299"} xref: ICD10CM:Q77.0 {source="Orphanet:93299/attributed", source="Orphanet:93299/ntbt", source="Orphanet:93299"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536015 {source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"} @@ -161780,6 +163606,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008702 name: achondrogenesis type II def: "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." [Orphanet:93296] +subset: gard_rare {source="GARD:8713"} subset: ordo_clinical_subtype {source="Orphanet:93296"} synonym: "ACG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200610] synonym: "achondrogenesis type 2" RELATED [Orphanet:93296] @@ -161793,6 +163620,7 @@ synonym: "achondrogenesis, type II or hypochondrogenesis" EXACT [OMIM:200610, OM synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610] synonym: "hypochondrogenesis" RELATED [OMIM:200610] xref: DOID:0080056 {source="MONDO:equivalentTo"} +xref: GARD:8713 {source="Orphanet:93296"} xref: ICD10CM:Q77.0 {source="Orphanet:93296", source="Orphanet:93296/attributed", source="Orphanet:93296/ntbt"} xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="Orphanet:93296/e"} xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="Orphanet:93296/e"} @@ -161814,6 +163642,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008703 name: acromesomelic dysplasia 2A def: "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." [https://orcid.org/0000-0001-5208-3432, Orphanet:2098] +subset: gard_rare {source="GARD:1300"} subset: ordo_malformation_syndrome {source="Orphanet:2098"} synonym: "achondrogenesis type II (formerly)" RELATED [GARD:0001300] synonym: "achondrogenesis, Brazilian" RELATED [OMIM:200700] @@ -161832,6 +163661,7 @@ synonym: "hypochondrogenesis" RELATED [NCIT:C3816] synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816] synonym: "type II achondrogenesis" EXACT [NCIT:C3816] xref: DOID:0080052 {source="MONDO:equivalentTo"} +xref: GARD:1300 {source="Orphanet:2098"} xref: ICD10CM:Q78.8 {source="Orphanet:2098/attributed", source="Orphanet:2098/ntbt", source="Orphanet:2098"} xref: NCIT:C3816 {source="MONDO:equivalentTo"} xref: OMIM:200700 {source="DOID:0080052", source="Orphanet:2098/e", source="MONDO:equivalentTo", source="Orphanet:2098"} @@ -161850,7 +163680,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008704 name: short-limb skeletal dysplasia with severe combined immunodeficiency def: "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." [Orphanet:935] -subset: gard_rare +subset: gard_rare {source="GARD:2988"} subset: ordo_disease {source="Orphanet:935"} synonym: "achondroplasia and severe combined immunodeficiency" RELATED [GARD:0002988] synonym: "achondroplasia and Swiss type agammaglobulinemia" RELATED [GARD:0000463] @@ -161866,6 +163696,7 @@ synonym: "short limb skeletal dysplasia with SCID" EXACT [Orphanet:935] synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, OMIM:200900] synonym: "SLSD with SCID" RELATED [GARD:0002988] synonym: "Slsd with SCID" RELATED [OMIM:200900] +xref: GARD:2988 {source="Orphanet:935"} xref: ICD10CM:D82.2 {source="Orphanet:935", source="Orphanet:935/specific", source="Orphanet:935/e"} xref: MESH:C536020 {source="Orphanet:935", source="Orphanet:935/e"} xref: MESH:C565984 {source="MONDO:equivalentTo"} @@ -161880,9 +163711,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2988/achondr [Term] id: MONDO:0008705 name: lysosomal acid phosphatase deficiency +subset: gard_rare {source="GARD:16636"} subset: ordo_disease {source="Orphanet:35121"} synonym: "acid phosphatase deficiency" EXACT [OMIM:200950] synonym: "lysosomal acid phosphatase deficiency" EXACT [Orphanet:35121] +xref: GARD:16636 {source="Orphanet:35121"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:35121/inclusion", source="Orphanet:35121/ntbt", source="Orphanet:35121"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562645 {source="MONDO:equivalentTo"} @@ -161898,7 +163731,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0008706 name: Ackerman syndrome def: "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." [Orphanet:2561] -subset: gard_rare {source="GARD:0000469"} +subset: gard_rare {source="GARD:469"} subset: ordo_malformation_syndrome {source="Orphanet:2561"} synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561] synonym: "Ackerman syndrome" EXACT [OMIM:200970] @@ -161907,6 +163740,7 @@ synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GA synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970] synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561] synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] +xref: GARD:469 {source="Orphanet:2561"} xref: ICD10CM:K00.2 {source="Orphanet:2561", source="Orphanet:2561/attributed", source="Orphanet:2561/ntbt"} xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} @@ -161922,6 +163756,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/469/ackerman id: MONDO:0008707 name: acro-renal-mandibular syndrome def: "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." [Orphanet:958] +subset: gard_rare {source="GARD:480"} subset: ordo_malformation_syndrome {source="Orphanet:958"} synonym: "acro-renal-uterine-mandibular syndrome" RELATED [GARD:0000480] synonym: "acrorenal mandibular syndrome" RELATED [GARD:0000480] @@ -161930,6 +163765,7 @@ synonym: "acrorenal-uterine-mandibular syndrome" RELATED [OMIM:200980] synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480] synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958] synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980] +xref: GARD:480 {source="Orphanet:958"} xref: ICD10CM:Q87.8 {source="Orphanet:958", source="Orphanet:958/attributed", source="Orphanet:958/ntbt"} xref: MESH:C535665 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: OMIM:200980 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} @@ -161945,6 +163781,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008708 name: acrocallosal syndrome def: "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." [Orphanet:36] +subset: gard_rare {source="GARD:5721"} subset: ordo_malformation_syndrome {source="Orphanet:36"} synonym: "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" RELATED [GARD:0005721] synonym: "ACLS" EXACT ABBREVIATION [DOID:9250, MONDO:Lexical, OMIM:200990] @@ -161957,6 +163794,7 @@ synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:200990] synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990] synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE] xref: DOID:9250 {source="MONDO:equivalentTo"} +xref: GARD:5721 {source="Orphanet:36"} xref: ICD10CM:Q04.0 {source="Orphanet:36/attributed", source="Orphanet:36/ntbt", source="Orphanet:36"} xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"} xref: NCIT:C84531 {source="DOID:9250", source="MONDO:equivalentTo"} @@ -161983,10 +163821,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008709 name: acrocephalopolydactyly def: "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." [Orphanet:221054] -subset: gard_rare +subset: gard_rare {source="GARD:2096"} subset: ordo_malformation_syndrome {source="Orphanet:221054"} synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:221054] synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054] +xref: GARD:2096 {source="Orphanet:221054"} xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="Orphanet:221054/attributed", source="Orphanet:221054/ntbt"} xref: MESH:C573722 {source="MONDO:equivalentTo"} xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="Orphanet:221054/e"} @@ -162005,6 +163844,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008710 name: RAB23-related Carpenter syndrome def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15128"} synonym: "ACPS 2" BROAD [OMIM:201000] synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000] synonym: "Carpenter syndrome" BROAD [OMIM:201000, OMIM:genemap2] @@ -162015,6 +163855,7 @@ synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000] synonym: "CRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201000] synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RAB23-related Carpenter syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:15128 {source="OMIM:201000"} xref: OMIM:201000 {source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="OMIM:201000"} xref: SCTID:205813009 {source="MONDO:equivalentTo"} @@ -162033,7 +163874,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008711 name: Goodman syndrome def: "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." [Orphanet:65798] -subset: gard_rare {source="GARD:0002549"} +subset: gard_rare {source="GARD:2549"} subset: ordo_malformation_syndrome {source="Orphanet:65798"} synonym: "ACPS 4" EXACT [OMIM:201020] synonym: "ACPS4" EXACT ABBREVIATION [Orphanet:65798] @@ -162041,6 +163882,7 @@ synonym: "acrocephalopolysyndactyly type 4" EXACT [Orphanet:65798] synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020] synonym: "Goodman camptodactyly" RELATED [GARD:0002549] synonym: "Goodman syndrome" EXACT [OMIM:201020] +xref: GARD:2549 {source="Orphanet:65798"} xref: ICD10CM:Q87.0 {source="Orphanet:65798", source="Orphanet:65798/attributed", source="Orphanet:65798/ntbt"} xref: MESH:C537287 {source="MONDO:equivalentTo"} xref: OMIM:201020 {source="Orphanet:65798", source="MONDO:equivalentTo", source="Orphanet:65798/e"} @@ -162058,10 +163900,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2549/goodman id: MONDO:0008712 name: acrocraniofacial dysostosis def: "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." [Orphanet:949] +subset: gard_rare {source="GARD:3075"} subset: ordo_malformation_syndrome {source="Orphanet:949"} synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050] synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075] synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949] +xref: GARD:3075 {source="Orphanet:949"} xref: ICD10CM:Q87.0 {source="Orphanet:949/attributed", source="Orphanet:949/ntbt", source="Orphanet:949"} xref: MESH:C536892 {source="MONDO:equivalentTo"} xref: OMIM:201050 {source="Orphanet:949/e", source="MONDO:equivalentTo", source="Orphanet:949"} @@ -162077,7 +163921,7 @@ id: MONDO:0008713 name: acrodermatitis enteropathica alt_id: MONDO:0023070 def: "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." [Orphanet:37] -subset: gard_rare {source="GARD:0005723"} +subset: gard_rare {source="GARD:5723"} subset: ordo_disease {source="Orphanet:37"} synonym: "acrodermatitis enteropathica" EXACT CLINGEN_PREFERRED [] synonym: "acrodermatitis enteropathica zinc deficiency type" RELATED [GARD:0005723] @@ -162090,6 +163934,7 @@ synonym: "Danbolt-Cross syndrome" RELATED [GARD:0005723] synonym: "enteropathica" RELATED [GARD:0006343] synonym: "inherited zinc deficiency" EXACT [Orphanet:37] xref: DOID:0050605 {source="MONDO:equivalentTo"} +xref: GARD:5723 {source="Orphanet:37"} xref: ICD10CM:E83.2 {source="Orphanet:37/inclusion", source="Orphanet:37", source="Orphanet:37/ntbt"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538178 {source="MONDO:equivalentTo"} @@ -162115,13 +163960,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6343/enterop id: MONDO:0008714 name: acrofacial dysostosis Rodriguez type def: "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type] -subset: gard_rare {source="GARD:0000496"} +subset: gard_rare {source="GARD:496"} subset: ordo_malformation_syndrome {source="Orphanet:1788"} synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [OMIM:201170] synonym: "acrofacial dysostosis, Rodríguez type" RELATED [Orphanet:1788] synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383] synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170] xref: DOID:0060383 {source="MONDO:equivalentTo"} +xref: GARD:496 {source="Orphanet:1788"} xref: ICD10CM:Q75.4 {source="Orphanet:1788", source="Orphanet:1788/attributed", source="Orphanet:1788/ntbt"} xref: MESH:C538183 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} xref: OMIM:201170 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} @@ -162141,6 +163987,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/496/acrofaci id: MONDO:0008715 name: acrofrontofacionasal dysostosis def: "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." [Orphanet:1784] +subset: gard_rare {source="GARD:484"} subset: ordo_malformation_syndrome {source="Orphanet:1784"} synonym: "acro fronto facio nasal dysostosis" RELATED [GARD:0000484] synonym: "acrofrontofacionasal dysostosis 1" NARROW [OMIM:201180] @@ -162153,6 +164000,7 @@ synonym: "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [OMIM:201180] synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784] xref: DOID:0060226 {source="MONDO:equivalentTo"} +xref: GARD:484 {source="Orphanet:1784"} xref: ICD10CM:Q75.1 {source="Orphanet:1784/attributed", source="Orphanet:1784/ntbt", source="Orphanet:1784"} xref: MESH:C538186 {source="DOID:0060226"} xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"} @@ -162165,12 +164013,14 @@ property_value: confidence "0.3440000000000003" xsd:double id: MONDO:0008716 name: acrogeria def: "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." [Wikipedia:Acrogeria] +subset: gard_rare {source="GARD:6543"} subset: ordo_malformation_syndrome {source="Orphanet:2500"} synonym: "acrogeria, Gottron type" EXACT [OMIM:201200, Orphanet:2500] synonym: "acrometageria" EXACT [OMIM:201200, Orphanet:2500] synonym: "familial acrogeria" RELATED [GARD:0006543] synonym: "Gottron syndrome" EXACT [Orphanet:2500] synonym: "Metageria" RELATED [OMIM:201200] +xref: GARD:6543 {source="Orphanet:2500"} xref: ICD10CM:L90.8 {source="Orphanet:2500/attributed", source="Orphanet:2500/ntbt", source="Orphanet:2500"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538187 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} @@ -162188,6 +164038,7 @@ property_value: confidence "25.875" xsd:double id: MONDO:0008717 name: acromesomelic dysplasia 2C, Hunter-Thompson type def: "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." [Orphanet:968] +subset: gard_rare {source="GARD:506"} subset: ordo_malformation_syndrome {source="Orphanet:968"} synonym: "acromesomelic dwarfism" EXACT [DOID:0080051, Orphanet:968] synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [OMIM:201250, OMIM:genemap2] @@ -162195,6 +164046,7 @@ synonym: "acromesomelic dysplasia Hunter Thompson type" RELATED [GARD:0000506] synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, OMIM:201250] synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201250] xref: DOID:0080051 {source="MONDO:equivalentTo"} +xref: GARD:506 {source="Orphanet:968"} xref: ICD10CM:Q78.8 {source="Orphanet:968", source="Orphanet:968/attributed", source="Orphanet:968/ntbt"} xref: OMIM:201250 {source="MONDO:equivalentTo", source="Orphanet:968", source="Orphanet:968/e", source="DOID:0080051"} xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"} @@ -162208,10 +164060,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008718 name: Morvan syndrome def: "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." [Orphanet:83467] +subset: gard_rare {source="GARD:9766"} subset: ordo_disease {source="Orphanet:83467"} synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" EXACT [Orphanet:83467] synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467] xref: EFO:1001897 {source="MONDO:equivalentTo"} +xref: GARD:9766 {source="Orphanet:83467"} xref: ICD10CM:G60.8 {source="Orphanet:83467", source="Orphanet:83467/ntbt"} xref: Orphanet:83467 {source="MONDO:equivalentTo"} xref: SCTID:763803004 {source="MONDO:equivalentTo"} @@ -162224,11 +164078,13 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0008719 name: acrorenal syndrome, autosomal recessive def: "Autosomal recessive form of acrorenal syndrome." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:15130"} synonym: "acrorenal syndrome autosomal recessive" RELATED [GARD:0000514] synonym: "acrorenal syndrome recessive" RELATED [GARD:0000514] synonym: "acrorenal syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:201310] synonym: "autosomal recessive acrorenal syndrome" EXACT [MONDO:design_pattern] synonym: "Curran syndrome" RELATED [GARD:0000514] +xref: GARD:15130 {source="OMIM:201310"} xref: MESH:C535666 {source="MONDO:equivalentTo"} xref: OMIM:201310 {source="MONDO:equivalentTo"} xref: Orphanet:971 {source="OMIM:201310"} @@ -162243,6 +164099,7 @@ property_value: confidence "4.775" xsd:double id: MONDO:0008720 name: congenital isolated adrenocorticotropic hormone deficiency def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [DOID:0080150, PMID:27041067, Wikipedia:Adrenocorticotropic_hormone_deficiency] +subset: gard_rare {source="GARD:5727"} subset: ordo_disease {source="Orphanet:199296"} synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400] synonym: "adrenocorticotropic hormone deficiency" EXACT [MONDO:ambiguous, OMIM:201400] @@ -162253,6 +164110,7 @@ synonym: "isolated ACTH deficiency" RELATED [GARD:0005727] synonym: "isolated adrenocorticotropic hormone deficiency" RELATED [GARD:0005727] xref: DOID:0080150 {source="MONDO:equivalentTo"} xref: EFO:1001979 {source="MONDO:equivalentTo"} +xref: GARD:5727 {source="Orphanet:199296"} xref: HP:0011748 {source="MONDO:otherHierarchy"} xref: ICD10CM:E23.6 {source="Orphanet:199296", source="Orphanet:199296/attributed", source="Orphanet:199296/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -162275,6 +164133,7 @@ id: MONDO:0008721 name: medium chain acyl-CoA dehydrogenase deficiency def: "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." [Orphanet:42] subset: clingen +subset: gard_rare {source="GARD:540"} subset: ordo_disease {source="Orphanet:42"} synonym: "ACADM deficiency" EXACT [OMIM:201450, Orphanet:42] synonym: "ACADMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201450] @@ -162294,6 +164153,7 @@ synonym: "medium chain acyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538] synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538] xref: DOID:0080153 {source="MONDO:equivalentTo"} +xref: GARD:540 {source="Orphanet:42"} xref: ICD10CM:E71.3 {source="Orphanet:42", source="Orphanet:42/attributed", source="Orphanet:42/ntbt"} xref: ICD10CM:E71.311 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -162315,7 +164175,7 @@ id: MONDO:0008722 name: short chain acyl-CoA dehydrogenase deficiency def: "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." [Orphanet:26792] subset: clingen -subset: gard_rare {source="GARD:0004822"} +subset: gard_rare {source="GARD:4822"} subset: ordo_disease {source="Orphanet:26792"} synonym: "ACADS deficiency" EXACT [Orphanet:26792] synonym: "Acads deficiency" RELATED [OMIM:201470] @@ -162334,6 +164194,7 @@ synonym: "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" EXACT [NCIT:C845 synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:0004822] synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539] xref: DOID:0080154 {source="MONDO:equivalentTo"} +xref: GARD:4822 {source="Orphanet:26792"} xref: ICD10CM:E71.3 {source="Orphanet:26792", source="Orphanet:26792/attributed", source="Orphanet:26792/ntbt"} xref: ICD10CM:E71.312 {source="MONDO:equivalentTo"} xref: MESH:C537596 {source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} @@ -162352,6 +164213,7 @@ id: MONDO:0008723 name: very long chain acyl-CoA dehydrogenase deficiency def: "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." [Orphanet:26793] subset: clingen +subset: gard_rare {source="GARD:5508"} subset: ordo_disease {source="Orphanet:26793"} synonym: "ACADVLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201475] synonym: "acyl-CoA dehydrogenase, very long-chain deficiency" EXACT [NCIT:C98647] @@ -162363,6 +164225,7 @@ synonym: "VLCAD" EXACT ABBREVIATION [NCIT:C98647] synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793] synonym: "VLCADD" EXACT ABBREVIATION [Orphanet:26793] xref: DOID:0080155 {source="MONDO:equivalentTo"} +xref: GARD:5508 {source="Orphanet:26793"} xref: ICD10CM:E71.3 {source="Orphanet:26793", source="Orphanet:26793/attributed", source="Orphanet:26793/ntbt"} xref: ICD10CM:E71.310 {source="MONDO:equivalentTo"} xref: NCIT:C98647 {source="MONDO:equivalentTo"} @@ -162383,8 +164246,10 @@ property_value: confidence "0.20000000000000018" xsd:double id: MONDO:0008724 name: adducted thumbs-arthrogryposis syndrome, Christian type def: "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." [Orphanet:2952] +subset: gard_rare {source="GARD:10277"} subset: ordo_malformation_syndrome {source="Orphanet:2952"} synonym: "adducted thumbs syndrome" RELATED [OMIM:201550] +xref: GARD:10277 {source="Orphanet:2952"} xref: ICD10CM:Q74.8 {source="Orphanet:2952", source="Orphanet:2952/attributed", source="Orphanet:2952/ntbt"} xref: OMIM:201550 {source="MONDO:equivalentTo", source="Orphanet:2952", source="Orphanet:2952/e"} xref: Orphanet:2952 {source="OMIM:201550", source="MONDO:equivalentTo"} @@ -162397,6 +164262,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0008725 name: congenital lipoid adrenal hyperplasia due to STAR deficency def: "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." [Orphanet:90790] +subset: gard_rare {source="GARD:1465"} subset: ordo_disease {source="Orphanet:90790"} synonym: "adrenal hyperplasia 1" RELATED [OMIM:201710] synonym: "CLAH" EXACT ABBREVIATION [Orphanet:90790] @@ -162405,6 +164271,7 @@ synonym: "LCAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201710] synonym: "lipoid adrenal hyperplasia" EXACT [OMIM:201710, OMIM:genemap2] synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710] synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710] +xref: GARD:1465 {source="Orphanet:90790"} xref: ICD10CM:E25.0 {source="Orphanet:90790", source="Orphanet:90790/attributed", source="Orphanet:90790/ntbt"} xref: MESH:C537027 {source="Orphanet:90790", source="Orphanet:90790/e"} xref: OMIM:201710 {source="Orphanet:90790", source="MONDO:equivalentTo", source="Orphanet:90790/e"} @@ -162423,9 +164290,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008726 name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +subset: gard_rare {source="GARD:16665"} synonym: "ABS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201750] synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:201750] synonym: "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis" EXACT [Orphanet:63269] +xref: GARD:16665 {source="Orphanet:63269"} xref: NCIT:C178415 {source="MONDO:equivalentTo"} xref: OMIM:201750 {source="MONDO:equivalentTo"} xref: Orphanet:63269 {source="MONDO:equivalentTo", source="OMIM:201750"} @@ -162442,6 +164311,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008727 name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency def: "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." [Orphanet:90791] +subset: gard_rare {source="GARD:9152"} subset: ordo_disease {source="Orphanet:90791"} synonym: "3-beta HSD deficiency" EXACT [NCIT:C131088] synonym: "3-Beta-HSD deficiency" RELATED [OMIM:201810] @@ -162455,6 +164325,7 @@ synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrog synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orphanet:90791] synonym: "HSD3B deficiency" RELATED [GARD:0009152] synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] +xref: GARD:9152 {source="Orphanet:90791"} xref: ICD10CM:E25.0 {source="Orphanet:90791/attributed", source="Orphanet:90791/ntbt", source="Orphanet:90791"} xref: MESH:C538236 {source="MONDO:equivalentTo"} xref: NCIT:C131088 {source="MONDO:equivalentTo"} @@ -162479,7 +164350,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008728 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency def: "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." [Orphanet:90794] -subset: gard_rare +subset: gard_rare {source="GARD:12665"} subset: ordo_disease {source="Orphanet:90794"} synonym: "21 hydroxylase deficiency" RELATED [GARD:0005757] synonym: "21-hydroxylase deficiency" RELATED [OMIM:201910] @@ -162493,6 +164364,7 @@ synonym: "congenital adrenal hyperplasia 1" RELATED [OMIM:201910] synonym: "congenital adrenal hyperplasia due to 21-hydroxylase deficiency" RELATED [GARD:0005757] synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910] synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910] +xref: GARD:12665 {source="Orphanet:90794"} xref: ICD10CM:E25.0 {source="Orphanet:90794", source="Orphanet:90794/attributed", source="Orphanet:90794/ntbt"} xref: MESH:C535979 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C131087 {source="MONDO:equivalentTo"} @@ -162519,6 +164391,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008729 name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency def: "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." [Orphanet:90795] +subset: gard_rare {source="GARD:5658"} subset: ordo_disease {source="Orphanet:90795"} synonym: "11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] synonym: "adrenal hyperplasia 4" RELATED [OMIM:202010] @@ -162531,6 +164404,7 @@ synonym: "CAH due to 11-beta-hydroxylase deficiency" EXACT [Orphanet:90795] synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795] synonym: "P450C11B1 deficiency" RELATED [OMIM:202010] synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] +xref: GARD:5658 {source="Orphanet:90795"} xref: ICD10CM:E25.0 {source="Orphanet:90795", source="Orphanet:90795/attributed", source="Orphanet:90795/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000002 {source="Orphanet:90795", source="Orphanet:90795/e"} @@ -162554,6 +164428,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008730 name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency def: "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." [Orphanet:90793] +subset: gard_rare {source="GARD:1469"} subset: ordo_disease {source="Orphanet:90793"} synonym: "17,20-lyase deficiency, isolated" RELATED [OMIM:202110] synonym: "17-Alpha-Hydroxylase deficiency" RELATED [OMIM:202110] @@ -162565,6 +164440,7 @@ synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficienc synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793] synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793] synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469] +xref: GARD:1469 {source="Orphanet:90793"} xref: ICD10CM:E25.0 {source="Orphanet:90793", source="Orphanet:90793/attributed", source="Orphanet:90793/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:202110 {source="MONDO:equivalentTo", source="Orphanet:90793", source="Orphanet:90793/e"} @@ -162589,10 +164465,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1469/17-alph [Term] id: MONDO:0008731 name: familial adrenal hypoplasia with absent pituitary luteinizing hormone +subset: gard_rare {source="GARD:16839"} subset: ordo_disease {source="Orphanet:95700"} synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150] synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700] synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700] +xref: GARD:16839 {source="Orphanet:95700"} xref: ICD10CM:E27.1 {source="Orphanet:95700", source="Orphanet:95700/attributed", source="Orphanet:95700/ntbt"} xref: MESH:C565976 {source="MONDO:equivalentTo"} xref: OMIM:202150 {source="MONDO:equivalentTo", source="Orphanet:95700", source="Orphanet:95700/e"} @@ -162611,7 +164489,9 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0008732 name: adrenal hypoplasia, cytomegalic type +subset: gard_rare {source="GARD:15131"} synonym: "adrenal hypoplasia, cytomegalic type" EXACT [OMIM:202155] +xref: GARD:15131 {source="OMIM:202155"} xref: OMIM:202155 {source="MONDO:equivalentTo"} xref: Orphanet:95702 {source="OMIM:202155"} xref: UMLS:C1859977 {source="OMIM:202155", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -162622,11 +164502,12 @@ property_value: confidence "2.315789473684211" xsd:double id: MONDO:0008733 name: familial glucocorticoid deficiency def: "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." [Orphanet:361] -subset: gard_rare {source="GARD:0002498"} +subset: gard_rare {source="GARD:2498"} subset: ordo_disease {source="Orphanet:361"} synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202200] synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200] xref: DOID:0080620 {source="MONDO:equivalentTo"} +xref: GARD:2498 {source="Orphanet:361"} xref: ICD10CM:E27.1 {source="Orphanet:361/attributed", source="Orphanet:361/ntbt", source="Orphanet:361"} xref: MESH:C565974 {source="MONDO:equivalentTo"} xref: NCIT:C120446 {source="MONDO:equivalentTo"} @@ -162645,11 +164526,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2498/familia id: MONDO:0008734 name: adrenocortical carcinoma, hereditary def: "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:15132"} synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, paediatric" RELATED OMO:0003005 [] synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300] synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary] +xref: GARD:15132 {source="OMIM:202300"} xref: MESH:C565972 {source="MONDO:equivalentTo"} xref: OMIM:202300 {source="MONDO:equivalentTo"} xref: Orphanet:1501 {source="OMIM:202300"} @@ -162664,8 +164547,10 @@ property_value: confidence "0.0" xsd:double [Term] id: MONDO:0008735 name: adrenocortical unresponsiveness to ACTH with postreceptor defect +subset: gard_rare {source="GARD:15133"} synonym: "adrenocortical unresponsiveness to ACTH with postreceptor defect" EXACT [OMIM:202355] synonym: "familial glucocorticoid deficiency due to defect distal to ACTH receptor" RELATED [OMIM:202355] +xref: GARD:15133 {source="OMIM:202355"} xref: MESH:C565971 {source="MONDO:equivalentTo"} xref: OMIM:202355 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:202355"} @@ -162676,10 +164561,12 @@ property_value: confidence "0.9297058823529412" xsd:double [Term] id: MONDO:0008736 name: peroxisome biogenesis disorder 2B +subset: gard_rare {source="GARD:15134"} synonym: "PBD2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202370] synonym: "peroxisome biogenesis disorder 2B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:202370] synonym: "peroxisome biogenesis disorder type 2B" EXACT [MONDORULE:4, OMIM:202370] xref: DOID:0080622 {source="MONDO:equivalentTo"} +xref: GARD:15134 {source="OMIM:202370"} xref: NCIT:C155751 {source="MONDO:equivalentTo"} xref: OMIM:202370 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:202370"} @@ -162697,6 +164584,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008737 name: congenital afibrinogenemia def: "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." [Orphanet:98880] +subset: gard_rare {source="GARD:5761"} subset: ordo_clinical_subtype {source="Orphanet:98880"} synonym: "afibrinogenemia" RELATED [GARD:0005761] synonym: "afibrinogenemia congenital" RELATED [GARD:0005761] @@ -162706,6 +164594,7 @@ synonym: "familial afibrinogenemia" RELATED [Orphanet:98880] synonym: "fibrinogen deficiency" EXACT [DOID:2236] synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400] xref: DOID:2236 {source="MONDO:equivalentTo"} +xref: GARD:5761 {source="Orphanet:98880"} xref: ICD10CM:D68.2 {source="DOID:2236", source="Orphanet:98880/attributed", source="Orphanet:98880/ntbt", source="Orphanet:98880"} xref: MESH:D000347 {source="MONDO:equivalentTo", source="DOID:2236"} xref: NCIT:C26692 {source="DOID:2236"} @@ -162754,6 +164643,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008740 name: agnathia-otocephaly complex def: "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." [Orphanet:990] +subset: gard_rare {source="GARD:9126"} subset: ordo_malformation_syndrome {source="Orphanet:990"} synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126] synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, Orphanet:990] @@ -162764,6 +164654,7 @@ synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [DOID:0060341, OM synonym: "holoprosencephaly-agnathia" EXACT [DOID:0060341, OMIM:202650] synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650] xref: DOID:0060341 {source="MONDO:equivalentTo"} +xref: GARD:9126 {source="Orphanet:990"} xref: ICD10CM:Q18.2 {source="DOID:0060341"} xref: ICD10CM:Q87.8 {source="Orphanet:990/attributed", source="Orphanet:990/ntbt", source="Orphanet:990"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -162785,12 +164676,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008741 name: PAGOD syndrome def: "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." [Orphanet:991] +subset: gard_rare {source="GARD:3086"} subset: ordo_malformation_syndrome {source="Orphanet:991"} synonym: "agonadism with multiple internal malformations" RELATED [OMIM:202660] synonym: "Kennerknecht sorgo Oberhoffer syndrome" RELATED [GARD:0003086] synonym: "PAGOD syndrome" EXACT [OMIM:202660] synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086] synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991] +xref: GARD:3086 {source="Orphanet:991"} xref: ICD10CM:Q87.8 {source="Orphanet:991/attributed", source="Orphanet:991/ntbt", source="Orphanet:991"} xref: MESH:C537018 {source="MONDO:equivalentTo"} xref: OMIM:202660 {source="Orphanet:991/e", source="MONDO:equivalentTo", source="Orphanet:991"} @@ -162809,11 +164702,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008742 name: autosomal dominant severe congenital neutropenia def: "Autosomal dominant form of severe congenital neutropenia." [MONDO:patterns/autosomal_dominant] -subset: gard_rare {source="GARD:0009558"} +subset: gard_rare {source="GARD:9558"} subset: ordo_disease {source="Orphanet:486"} synonym: "severe congenital neutropenia autosomal dominant" RELATED [GARD:0009558] synonym: "severe congenital neutropenia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0112130 {source="MONDO:equivalentTo"} +xref: GARD:9558 {source="Orphanet:486"} xref: ICD10CM:D70 {source="Orphanet:486/attributed", source="Orphanet:486/ntbt", source="Orphanet:486"} xref: NCIT:C166155 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"} @@ -162828,10 +164722,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9558/severe- id: MONDO:0008743 name: Stimmler syndrome def: "Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." [Orphanet:3199] +subset: gard_rare {source="GARD:5026"} subset: ordo_malformation_syndrome {source="Orphanet:3199"} synonym: "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" RELATED [GARD:0005026] synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [OMIM:202900] synonym: "Stimmler syndrome" EXACT [OMIM:202900] +xref: GARD:5026 {source="Orphanet:3199"} xref: MESH:C565968 {source="MONDO:equivalentTo"} xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="Orphanet:3199/e"} xref: Orphanet:3199 {source="MONDO:equivalentTo", source="OMIM:202900"} @@ -162847,10 +164743,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008744 name: alar cartilages hypoplasia-coloboma-telecanthus syndrome def: "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." [Orphanet:2007] +subset: gard_rare {source="GARD:588"} subset: ordo_malformation_syndrome {source="Orphanet:2007"} synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:203000] synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588] synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000] +xref: GARD:588 {source="Orphanet:2007"} xref: ICD10CM:Q75.8 {source="Orphanet:2007", source="Orphanet:2007/attributed", source="Orphanet:2007/ntbt"} xref: MESH:C535967 {source="MONDO:equivalentTo"} xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="Orphanet:2007/e"} @@ -162865,6 +164763,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008745 name: oculocutaneous albinism type 1A def: "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." [Orphanet:79431] +subset: gard_rare {source="GARD:16721"} subset: ordo_clinical_subtype {source="Orphanet:79431"} synonym: "albinism 1" RELATED [OMIM:203100] synonym: "albinism, oculocutaneous, type 1A" RELATED [OMIM:203100] @@ -162879,6 +164778,7 @@ synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_g synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} +xref: GARD:16721 {source="Orphanet:79431"} xref: ICD10CM:E70.3 {source="Orphanet:79431/attributed", source="Orphanet:79431/ntbt", source="Orphanet:79431"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C168731 {source="MONDO:equivalentTo"} @@ -162900,7 +164800,7 @@ property_value: confidence "22.700000000000003" xsd:double id: MONDO:0008746 name: oculocutaneous albinism type 2 def: "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79432] -subset: gard_rare {source="GARD:0004038"} +subset: gard_rare {source="GARD:4038"} subset: ordo_disease {source="Orphanet:79432"} synonym: "albinism 2" RELATED [OMIM:203200] synonym: "albinism, Brown oculocutaneous" RELATED [OMIM:203200] @@ -162917,6 +164817,7 @@ synonym: "oculocutaneous albinism, type 2" RELATED [OMIM:203200] synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMIM:203200] synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038] xref: DOID:0070096 {source="MONDO:equivalentTo"} +xref: GARD:4038 {source="Orphanet:79432"} xref: ICD10CM:E70.3 {source="Orphanet:79432/attributed", source="Orphanet:79432/ntbt", source="Orphanet:79432"} xref: MESH:C537730 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432"} xref: OMIM:203200 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432", source="DOID:0070096"} @@ -162932,7 +164833,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4038/oculocu id: MONDO:0008747 name: oculocutaneous albinism type 3 def: "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." [Orphanet:79433] -subset: gard_rare +subset: gard_rare {source="GARD:4039"} subset: ordo_disease {source="Orphanet:79433"} synonym: "albinism 3" RELATED [OMIM:203290] synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039, OMIM:203290] @@ -162950,6 +164851,7 @@ synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patt synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290] synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} +xref: GARD:4039 {source="Orphanet:79433"} xref: ICD10CM:E70.3 {source="Orphanet:79433/attributed", source="Orphanet:79433/ntbt", source="Orphanet:79433"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537189 {source="Orphanet:79433/e", source="Orphanet:79433"} @@ -162971,6 +164873,7 @@ property_value: confidence "14.833333333333334" xsd:double id: MONDO:0008748 name: Hermansky-Pudlak syndrome 1 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18331"} synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" RELATED [OMIM:203300] synonym: "Delta storage pool disease" RELATED [OMIM:203300] synonym: "Hermansky-Pudlak syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:203300] @@ -162979,6 +164882,7 @@ synonym: "Hermansky-Pudlak syndrome type 1" EXACT [DOID:0060539, MONDORULE:1, OM synonym: "HPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203300] synonym: "HPS1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060539 {source="MONDO:equivalentTo"} +xref: GARD:18331 {source="OMIM:203300"} xref: MESH:C538539 {source="MONDO:equivalentTo"} xref: NCIT:C150367 {source="MONDO:equivalentTo"} xref: OMIM:203300 {source="MONDO:equivalentTo", source="DOID:0060539"} @@ -162996,12 +164900,13 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0008749 name: pseudohypoparathyroidism type 2 def: "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." [Orphanet:94090] -subset: gard_rare {source="GARD:0010682"} +subset: gard_rare {source="GARD:10682"} subset: ordo_disease {source="Orphanet:94090"} synonym: "Php 2" RELATED [OMIM:203330] synonym: "PHP II" RELATED [GARD:0010682] synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330] synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330] +xref: GARD:10682 {source="Orphanet:94090"} xref: ICD10CM:E20.1 {source="Orphanet:94090", source="Orphanet:94090/attributed", source="Orphanet:94090/ntbt"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548077 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} @@ -163019,12 +164924,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10682/pseudo id: MONDO:0008750 name: microcephaly-albinism-digital anomalies syndrome def: "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." [Orphanet:2513] -subset: gard_rare {source="GARD:0003604"} +subset: gard_rare {source="GARD:3604"} subset: ordo_malformation_syndrome {source="Orphanet:2513"} synonym: "albinism-microcephaly digital anomalies syndrome" RELATED [GARD:0003604] synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340] synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513] synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340] +xref: GARD:3604 {source="Orphanet:2513"} xref: ICD10CM:Q87.8 {source="Orphanet:2513", source="Orphanet:2513/attributed", source="Orphanet:2513/ntbt"} xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} @@ -163040,7 +164946,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3604/microce [Term] id: MONDO:0008751 name: corticosterone methyloxidase type 1 deficiency -subset: gard_rare synonym: "18 alpha hydroxylase deficiency" RELATED [GARD:0005660] synonym: "18 Hydroxylase deficiency" RELATED [GARD:0005660] synonym: "18-hydroxycorticosterone dehydrogenase deficiency" RELATED [] @@ -163081,7 +164986,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5660/18-hydr id: MONDO:0008752 name: Alexander disease def: "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." [Orphanet:58] -subset: gard_rare {source="GARD:0005774"} +subset: gard_rare {source="GARD:5774"} subset: ordo_disease {source="Orphanet:58"} synonym: "Alexander disease" EXACT [MONDO:Lexical, OMIM:203450] synonym: "Alexander's disease" EXACT [DOID:4252] @@ -163090,6 +164995,7 @@ synonym: "ALXDRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203450] synonym: "AxD" EXACT [Orphanet:58] synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774] xref: DOID:4252 {source="MONDO:equivalentTo"} +xref: GARD:5774 {source="Orphanet:58"} xref: ICD10CM:E75.2 {source="Orphanet:58/attributed", source="Orphanet:58/ntbt", source="Orphanet:58"} xref: MESH:D038261 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: NCIT:C84545 {source="MONDO:equivalentTo", source="DOID:4252"} @@ -163109,7 +165015,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5774/alexand id: MONDO:0008753 name: alkaptonuria def: "A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." [Orphanet:56] -subset: gard_rare {source="GARD:0005775"} +subset: gard_rare {source="GARD:5775"} subset: ordo_disease {source="Orphanet:56"} synonym: "aku" RELATED [MONDO:Lexical, OMIM:203500] synonym: "alcaptonuria" EXACT [DOID:9270] @@ -163122,6 +165028,7 @@ synonym: "homogentisic acid oxidase deficiency" EXACT [OMIM:203500, Orphanet:56] synonym: "homogentisic acidura" RELATED [GARD:0005775] synonym: "ochronosis, hereditary" RELATED [GARD:0005775] xref: DOID:9270 {source="MONDO:equivalentTo"} +xref: GARD:5775 {source="Orphanet:56"} xref: ICD10CM:E70.2 {source="Orphanet:56/inclusion", source="Orphanet:56", source="Orphanet:56/ntbt"} xref: ICD10CM:E70.29 {source="DOID:9270"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -163156,13 +165063,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5775/alkapto id: MONDO:0008754 name: alopecia - contractures - dwarfism - intellectual disability syndrome def: "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." [Orphanet:1005] -subset: gard_rare {source="GARD:0000605"} +subset: gard_rare {source="GARD:605"} subset: ordo_malformation_syndrome {source="Orphanet:1005"} synonym: "ACD intellectual disability syndrome" RELATED [OMIM:203550] synonym: "ACD mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005] synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [OMIM:203550] synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] +xref: GARD:605 {source="Orphanet:1005"} xref: ICD10CM:Q87.8 {source="Orphanet:1005", source="Orphanet:1005/attributed", source="Orphanet:1005/ntbt"} xref: MESH:C537051 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} xref: OMIM:203550 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} @@ -163178,11 +165086,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/605/alopecia [Term] id: MONDO:0008755 name: Moynahan syndrome +subset: gard_rare {source="GARD:606"} subset: ordo_malformation_syndrome {source="Orphanet:2574"} synonym: "alopecia epilepsy oligophrenia syndrome of Moynahan" RELATED [GARD:0000606] synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXACT [Orphanet:2574] synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600] synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600] +xref: GARD:606 {source="Orphanet:2574"} xref: ICD10CM:G40.4 {source="Orphanet:2574/attributed", source="Orphanet:2574/ntbt", source="Orphanet:2574"} xref: MESH:C537052 {source="MONDO:equivalentTo"} xref: OMIM:203600 {source="Orphanet:2574", source="MONDO:equivalentTo", source="Orphanet:2574/e"} @@ -163199,6 +165109,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008756 name: alopecia - intellectual disability syndrome def: "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." [Orphanet:2850] +subset: gard_rare {source="GARD:612"} subset: ordo_disease {source="Orphanet:2850"} synonym: "alopecia intellectual disbility syndrome 1" RELATED [GARD:0000612] synonym: "alopecia with severe intellectual deficit" RELATED [GARD:0000612] @@ -163208,6 +165119,7 @@ synonym: "Amr syndrome" RELATED [OMIM:203650] synonym: "AMR syndrome 1" RELATED [GARD:0000612] synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850] xref: DOID:0080627 {source="MONDO:equivalentTo"} +xref: GARD:612 {source="Orphanet:2850"} xref: ICD10CM:Q87.8 {source="Orphanet:2850", source="Orphanet:2850/attributed", source="Orphanet:2850/ntbt"} xref: OMIMPS:203650 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"} @@ -163227,6 +165139,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008757 name: alopecia universalis congenita def: "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." [Orphanet:701] +subset: gard_rare {source="GARD:15135", source="GARD:614"} subset: ordo_disease {source="Orphanet:701"} synonym: "alopecia areata universalis" RELATED [GARD:0000614] synonym: "alopecia universalis" RELATED [OMIM:203655] @@ -163236,6 +165149,8 @@ synonym: "atrichia, generalised" EXACT OMO:0003005 [] synonym: "atrichia, generalized" EXACT [OMIM:203655] synonym: "AU" RELATED ABBREVIATION [GARD:0000614] xref: DOID:0050634 {source="MONDO:equivalentTo"} +xref: GARD:15135 {source="OMIM:203655"} +xref: GARD:614 {source="Orphanet:701"} xref: ICD10CM:L63.1 {source="Orphanet:701", source="Orphanet:701/specific", source="Orphanet:701/e"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001767 {source="Orphanet:701", source="Orphanet:701/e"} @@ -163255,6 +165170,7 @@ property_value: confidence "1.1064814814814814" xsd:double id: MONDO:0008758 name: mitochondrial DNA depletion syndrome 4a def: "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." [Orphanet:726] +subset: gard_rare {source="GARD:5783"} subset: ordo_disease {source="Orphanet:726"} synonym: "AHD" EXACT ABBREVIATION [NCIT:C35257] synonym: "AHS" EXACT ABBREVIATION [NCIT:C35257] @@ -163285,6 +165201,7 @@ synonym: "progressive neuronal degeneration of childhood with liver disease" EXA synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442] xref: DOID:0080122 {source="MONDO:equivalentTo"} xref: DOID:1442 {source="MONDO:equivalentObsolete"} +xref: GARD:5783 {source="Orphanet:726"} xref: ICD10CM:G31.8 {source="Orphanet:726/inclusion", source="Orphanet:726", source="Orphanet:726/ntbt"} xref: ICD10CM:G31.81 {source="DOID:1442"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -163312,6 +165229,7 @@ property_value: confidence "0.07142857142857117" xsd:double id: MONDO:0008759 name: oxoglutaricaciduria def: "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." [Orphanet:31] +subset: gard_rare {source="GARD:617"} subset: ordo_disease {source="Orphanet:31"} synonym: "2 alpha ketoglutarate dehydrogenase deficiency" RELATED [GARD:0000617] synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740] @@ -163322,6 +165240,7 @@ synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740] synonym: "oxoglutarate dehydrogenase deficiency" EXACT [OMIM:203740, OMIM:genemap2] synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740] xref: DOID:0081326 {source="MONDO:equivalentTo"} +xref: GARD:617 {source="Orphanet:31"} xref: ICD10CM:E88.8 {source="Orphanet:31", source="Orphanet:31/attributed", source="Orphanet:31/ntbt"} xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} @@ -163340,6 +165259,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008760 name: beta-ketothiolase deficiency def: "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." [Orphanet:134] +subset: gard_rare {source="GARD:872"} subset: ordo_disease {source="Orphanet:134"} synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [OMIM:203750] synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [DOID:14723] @@ -163360,6 +165280,7 @@ synonym: "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" EXACT [Orpha synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723] synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134] xref: DOID:14723 {source="MONDO:equivalentTo"} +xref: GARD:872 {source="Orphanet:134"} xref: ICD10CM:E71.1 {source="Orphanet:134/attributed", source="Orphanet:134/ntbt", source="Orphanet:134"} xref: MESH:C535434 {source="MONDO:equivalentTo"} xref: MESH:C535818 {source="DOID:14723"} @@ -163393,7 +165314,7 @@ is_obsolete: true id: MONDO:0008762 name: autosomal recessive Alport syndrome def: "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." [https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome] -subset: gard_rare {source="GARD:0000625"} +subset: gard_rare {source="GARD:625"} subset: ordo_etiological_subtype {source="Orphanet:88919"} synonym: "Alport syndrome 2, autosomal recessive" EXACT [OMIM:203780, OMIM:genemap2] synonym: "Alport syndrome autosomal recessive" RELATED [GARD:0000625] @@ -163401,6 +165322,7 @@ synonym: "Alport syndrome recessive type" RELATED [GARD:0000625] synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:203780] synonym: "nephropathy and deafness" RELATED [GARD:0000625] xref: DOID:0110033 {source="MONDO:equivalentTo"} +xref: GARD:625 {source="Orphanet:88919"} xref: ICD10CM:Q87.8 {source="Orphanet:88919/attributed", source="Orphanet:88919/ntbt", source="Orphanet:88919"} xref: MedDRA:10001843 {source="Orphanet:88919/e", source="Orphanet:88919"} xref: MESH:C536587 {source="Orphanet:88919/e", source="Orphanet:88919"} @@ -163423,6 +165345,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/625/autosoma id: MONDO:0008763 name: Alstrom syndrome def: "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." [Orphanet:64] +subset: gard_rare {source="GARD:5787"} subset: ordo_disease {source="Orphanet:64"} synonym: "ALMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:203800] synonym: "ALSS" EXACT ABBREVIATION [OMIM:203800] @@ -163430,6 +165353,7 @@ synonym: "Alstrom syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:203800] synonym: "Alstrom's syndrome" RELATED [GARD:0005787] synonym: "Alström syndrome" EXACT [NCIT:C84549] xref: DOID:0050473 {source="MONDO:equivalentTo"} +xref: GARD:5787 {source="Orphanet:64"} xref: ICD10CM:Q87.8 {source="Orphanet:64", source="Orphanet:64/attributed", source="Orphanet:64/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068783 {source="Orphanet:64", source="Orphanet:64/e"} @@ -163462,6 +165386,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008764 name: Leber congenital amaurosis 1 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:635"} synonym: "amaurosis congenita of Leber 1" RELATED [OMIM:204000] synonym: "amaurosis congenita of Leber I" EXACT [DOID:0110078] synonym: "amaurosis congenita of Leber, type 1" RELATED [GARD:0000635] @@ -163474,6 +165399,7 @@ synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" EXACT [MONDO: synonym: "Leber congenital amaurosis type 1" EXACT [DOID:0110078, MONDORULE:1, OMIM:204000] synonym: "retinal blindness, congenital" RELATED [OMIM:204000] xref: DOID:0110078 {source="MONDO:equivalentTo"} +xref: GARD:635 {source="OMIM:204000"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110078"} xref: OMIM:204000 {source="MONDO:equivalentTo", source="DOID:0110078"} xref: UMLS:C0339527 {source="OMIM:204000"} @@ -163490,7 +165416,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008765 name: Leber congenital amaurosis 2 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0000636"} +subset: gard_rare {source="GARD:636"} synonym: "amaurosis congenita of Leber 2" RELATED [OMIM:204100] synonym: "amaurosis congenita of Leber II" EXACT [DOID:0110016] synonym: "amaurosis congenita of Leber, type 2" RELATED [GARD:0000636] @@ -163500,6 +165426,7 @@ synonym: "Leber congenital amaurosis caused by mutation in RPE65" EXACT [MONDO:d synonym: "Leber congenital amaurosis type 2" EXACT [DOID:0110016, MONDORULE:1, OMIM:204100] synonym: "RPE65 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110016 {source="MONDO:equivalentTo"} +xref: GARD:636 {source="OMIM:204100"} xref: ICD10CM:H35.5 {source="DOID:0110016", source="MONDO:relatedTo"} xref: MESH:C536601 {source="MONDO:equivalentTo"} xref: OMIM:204100 {source="DOID:0110016", source="MONDO:equivalentTo"} @@ -163517,10 +165444,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/636/leber-co id: MONDO:0008766 name: amaurosis-hypertrichosis syndrome def: "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." [Orphanet:1021] -subset: gard_rare +subset: gard_rare {source="GARD:637"} subset: ordo_disease {source="Orphanet:1021"} synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637] synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110] +xref: GARD:637 {source="Orphanet:1021"} xref: ICD10CM:H35.5 {source="Orphanet:1021", source="Orphanet:1021/attributed", source="Orphanet:1021/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e"} xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e", source="GARD:0000637"} @@ -163536,6 +165464,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/637/amaurosi id: MONDO:0008767 name: neuronal ceroid lipofuscinosis 3 def: "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C61258] +subset: gard_rare {source="GARD:5897"} subset: ordo_etiological_subtype {source="Orphanet:228346"} synonym: "batten disease" RELATED [OMIM:204200] synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical, OMIM:204200] @@ -163554,6 +165483,7 @@ synonym: "Spielmeyer-Sjogren disease" RELATED [OMIM:204200] synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897] synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200] xref: DOID:0110731 {source="MONDO:equivalentTo"} +xref: GARD:5897 {source="Orphanet:228346"} xref: ICD10CM:E75.4 {source="DOID:0110731", source="Orphanet:228346/attributed", source="Orphanet:228346/ntbt", source="Orphanet:228346"} xref: NCIT:C61258 {source="MONDO:equivalentTo"} xref: OMIM:204200 {source="DOID:0110731", source="Orphanet:228346/e", source="MONDO:equivalentTo", source="Orphanet:228346"} @@ -163571,6 +165501,7 @@ property_value: confidence "0.625" xsd:double id: MONDO:0008768 name: ceroid lipofuscinosis, neuronal, 6B (Kufs type) def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:6845"} subset: ordo_etiological_subtype {source="Orphanet:228340"} synonym: "adult neuronal ceroid lipofuscinosis 4A" RELATED [GARD:0006845] synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] @@ -163584,6 +165515,7 @@ synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4] xref: DOID:0110730 {source="MONDO:equivalentTo"} +xref: GARD:6845 {source="Orphanet:228340"} xref: ICD10CM:E75.4 {source="Orphanet:228340", source="Orphanet:228340/attributed", source="Orphanet:228340/ntbt", source="DOID:0110730"} xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="DOID:0110730", source="Orphanet:228340/e"} xref: Orphanet:228340 {source="OMIM:204300", source="MONDO:equivalentTo", source="DOID:0110730"} @@ -163600,6 +165532,7 @@ property_value: confidence "0.625" xsd:double id: MONDO:0008769 name: neuronal ceroid lipofuscinosis 2 def: "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85864] +subset: gard_rare {source="GARD:3045"} subset: ordo_etiological_subtype {source="Orphanet:228349"} synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical, OMIM:204500] synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [OMIM:204500] @@ -163616,6 +165549,7 @@ synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE: synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500] synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110726 {source="MONDO:equivalentTo"} +xref: GARD:3045 {source="Orphanet:228349"} xref: ICD10CM:E75.4 {source="Orphanet:228349/attributed", source="Orphanet:228349/ntbt", source="Orphanet:228349", source="DOID:0110726"} xref: NCIT:C85864 {source="MONDO:equivalentTo"} xref: OMIM:204500 {source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726", source="Orphanet:228349/e"} @@ -163635,6 +165569,7 @@ property_value: confidence "0.625" xsd:double [Term] id: MONDO:0008770 name: amelogenesis imperfecta type 1C +subset: gard_rare {source="GARD:15136"} synonym: "AI1C" EXACT ABBREVIATION [DOID:0110056, MONDO:Lexical, OMIM:204650] synonym: "amelogenesis imperfecta type IC" EXACT [DOID:0110056] synonym: "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive" RELATED [OMIM:204650] @@ -163644,6 +165579,7 @@ synonym: "amelogenesis imperfecta, type IC" RELATED [MONDO:Lexical, OMIM:204650] synonym: "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT [DOID:0110056] synonym: "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT [DOID:0110056] xref: DOID:0110056 {source="MONDO:equivalentTo"} +xref: GARD:15136 {source="OMIM:204650"} xref: ICD10CM:K00.5 {source="DOID:0110056"} xref: MESH:C567147 {source="MONDO:equivalentTo"} xref: OMIM:204650 {source="MONDO:equivalentTo"} @@ -163657,6 +165593,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008771 name: amelogenesis imperfecta type 1G def: "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." [Orphanet:1031] +subset: gard_rare {source="GARD:646"} subset: ordo_disease {source="Orphanet:171836"} subset: ordo_malformation_syndrome {source="Orphanet:1031"} synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" RELATED [GARD:0000646] @@ -163682,6 +165619,7 @@ synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:pat synonym: "generalised enamel hypoplasia and renal dysfunction" RELATED OMO:0003005 [] synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646] xref: DOID:0110066 {source="MONDO:equivalentTo"} +xref: GARD:646 {source="Orphanet:1031"} xref: ICD10CM:K00.5 {source="Orphanet:171836/attributed", source="Orphanet:171836/ntbt", source="Orphanet:171836", source="Orphanet:1031/attributed", source="Orphanet:1031/ntbt", source="DOID:0110066", source="Orphanet:1031"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538241 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="Orphanet:1031"} @@ -163709,7 +165647,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008772 name: amelogenesis imperfecta type 2A1 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:9495"} synonym: "AI2A1" EXACT ABBREVIATION [DOID:0110057, MESH:C538242, MONDO:Lexical, OMIM:204700] synonym: "amelogenesis imperfecta caused by mutation in KLK4" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta pigmented hypomaturation type" RELATED [GARD:0009495] @@ -163720,6 +165658,7 @@ synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [ME synonym: "amelogenesis imperfecta, type IIA1" EXACT [OMIM:204700, OMIM:genemap2] synonym: "KLK4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110057 {source="MONDO:equivalentTo"} +xref: GARD:9495 {source="OMIM:204700"} xref: ICD10CM:K00.5 {source="DOID:0110057"} xref: MESH:C538242 {source="MONDO:equivalentTo"} xref: MESH:C567146 {source="MONDO:equivalentTo"} @@ -163739,7 +165678,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9495/ameloge [Term] id: MONDO:0008773 name: amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis -subset: gard_rare {source="GARD:0000763"} synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis" RELATED [GARD:0000763] synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" EXACT [OMIM:204730] xref: MESH:C565960 {source="MONDO:equivalentTo"} @@ -163751,6 +165689,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/763/amino-ac [Term] id: MONDO:0008774 name: 2-aminoadipic 2-oxoadipic aciduria +subset: gard_rare {source="GARD:16708"} subset: ordo_disease {source="Orphanet:79154"} synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:204750] synonym: "alpha-aminoadipic aciduria" EXACT [Orphanet:79154] @@ -163758,6 +165697,7 @@ synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750, O synonym: "AMOXAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:204750] synonym: "Ketoadipicaciduria" EXACT [OMIM:245130] xref: DOID:0111453 {source="MONDO:equivalentTo"} +xref: GARD:16708 {source="Orphanet:79154"} xref: ICD10CM:E72.3 {source="Orphanet:79154/attributed", source="Orphanet:79154/ntbt", source="Orphanet:79154"} xref: MESH:C565453 {source="MONDO:equivalentTo"} xref: OMIM:204750 {source="Orphanet:79154/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:79154"} @@ -163784,7 +165724,6 @@ is_a: MONDO:0003847 {source="MESH:C565959/inferred"} ! hereditary disease [Term] id: MONDO:0008776 name: amyloidosis of gingiva and conjunctiva, with intellectual disability -subset: gard_rare synonym: "amyloidosis of gingiva and conjunctiva with intellectual disability" RELATED [GARD:0000657] synonym: "amyloidosis of gingiva and conjunctiva with mental retardation" RELATED DEPRECATED [GARD:0000657] synonym: "amyloidosis of gingiva and conjunctiva, with intellectual disability" EXACT [OMIM:204850] @@ -163800,7 +165739,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/657/amyloido id: MONDO:0008777 name: gelatinous drop-like corneal dystrophy def: "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." [Orphanet:98957] -subset: gard_rare +subset: gard_rare {source="GARD:9647"} subset: ordo_disease {source="Orphanet:98957"} synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647, OMIM:204870] synonym: "amyloidosis corneal" RELATED [GARD:0009647] @@ -163818,6 +165757,7 @@ synonym: "lattice corneal dystrophy, type 3" RELATED [OMIM:204870] synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] xref: DOID:0060449 {source="MONDO:equivalentTo"} +xref: GARD:9647 {source="Orphanet:98957"} xref: ICD10CM:H18.5 {source="Orphanet:98957", source="Orphanet:98957/attributed", source="Orphanet:98957/ntbt"} xref: MESH:C535480 {source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: NCIT:C142805 {source="MONDO:equivalentTo"} @@ -163862,7 +165802,7 @@ is_a: MONDO:0005395 {source="EFO:0003857"} ! movement disorder id: MONDO:0008780 name: amyotrophic lateral sclerosis type 2, juvenile def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009470"} +subset: gard_rare {source="GARD:15137"} synonym: "ALS, juvenile" RELATED [OMIM:205100] synonym: "ALS2" EXACT ABBREVIATION [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -163870,6 +165810,7 @@ synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIM:205100] synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern] xref: DOID:0060194 {source="MONDO:equivalentTo"} +xref: GARD:15137 {source="OMIM:205100"} xref: ICD10CM:G12.2 {source="DOID:0060194"} xref: MESH:C565957 {source="MONDO:equivalentTo"} xref: OMIM:205100 {source="MONDO:equivalentTo", source="DOID:0060194"} @@ -163902,7 +165843,9 @@ is_a: MONDO:0017593 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile id: MONDO:0008782 name: amyotrophic lateral sclerosis with polyglucosan bodies comment: Not in the OMIM series. {source="OMIM:205250"} +subset: gard_rare {source="GARD:15138"} synonym: "amyotrophic lateral sclerosis with polyglucosan bodies" EXACT [OMIM:205250] +xref: GARD:15138 {source="OMIM:205250"} xref: MESH:C565955 {source="MONDO:equivalentTo"} xref: OMIM:205250 {source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:205250"} @@ -163914,6 +165857,7 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0008783 name: Tangier disease def: "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." [Orphanet:31150] +subset: gard_rare {source="GARD:7731"} subset: ordo_disease {source="Orphanet:31150"} synonym: "A-alphalipoprotein neuropathy" RELATED [GARD:0007731] synonym: "Alpha high density lipoprotein deficiency disease" RELATED [GARD:0007731] @@ -163934,6 +165878,7 @@ synonym: "high density lipoprotein deficiency, type 1" RELATED [OMIM:205400] synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400] synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400] xref: DOID:1388 {source="MONDO:equivalentTo"} +xref: GARD:7731 {source="Orphanet:31150"} xref: ICD10CM:E78.6 {source="DOID:1388", source="Orphanet:31150/attributed", source="Orphanet:31150/ntbt", source="Orphanet:31150"} xref: MedDRA:10051875 {source="Orphanet:31150/e", source="Orphanet:31150"} xref: MESH:D013631 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"} @@ -163959,6 +165904,7 @@ replaced_by: MONDO:0020108 [Term] id: MONDO:0008785 name: sideroblastic anemia 2 +subset: gard_rare {source="GARD:18381"} synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [OMIM:205950] synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [OMIM:205950] synonym: "pyridoxine refractory sideroblastic anaemia" RELATED OMO:0003005 [] @@ -163967,6 +165913,7 @@ synonym: "SIDBA2" RELATED ABBREVIATION [OMIM:205950] synonym: "sideroblastic anaemia pyridoxine-refractory autosomal recessive" RELATED OMO:0003005 [] synonym: "sideroblastic anemia pyridoxine-refractory autosomal recessive" RELATED [GARD:0008249] xref: DOID:0060065 {source="MONDO:equivalentTo"} +xref: GARD:18381 {source="OMIM:205950"} xref: MESH:C567145 {source="MONDO:equivalentTo"} xref: OMIM:205950 {source="DOID:0060065", source="MONDO:equivalentTo"} xref: Orphanet:255132 {source="OMIM:205950"} @@ -164001,6 +165948,7 @@ relationship: disease_responds_to CHEBI:16709 ! pyridoxine id: MONDO:0008787 name: microcytic anemia with liver iron overload def: "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." [Orphanet:83642] +subset: gard_rare {source="GARD:12360"} subset: ordo_disease {source="Orphanet:83642"} synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206100] synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100] @@ -164009,6 +165957,7 @@ synonym: "hypochromic microcytic anaemia with iron overload" RELATED OMO:0003005 synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360] synonym: "microcytic anaemia and hepatic iron overload" RELATED OMO:0003005 [] synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360] +xref: GARD:12360 {source="Orphanet:83642"} xref: ICD10CM:D50.8 {source="Orphanet:83642/attributed", source="Orphanet:83642/ntbt", source="Orphanet:83642"} xref: OMIM:206100 {source="Orphanet:83642", source="MONDO:equivalentTo", source="Orphanet:83642/e"} xref: Orphanet:83642 {source="OMIM:206100", source="MONDO:equivalentTo"} @@ -164026,6 +165975,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0008788 name: IRIDA syndrome def: "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." [Orphanet:209981] +subset: gard_rare {source="GARD:10957"} subset: ordo_disease {source="Orphanet:209981"} synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957, OMIM:206200] synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206200] @@ -164035,6 +165985,7 @@ synonym: "iron-refractory iron deficiency anaemia" EXACT OMO:0003005 [] synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981] synonym: "pseudo-iron-deficiency Anaemia" RELATED OMO:0003005 [] synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200] +xref: GARD:10957 {source="Orphanet:209981"} xref: ICD10CM:D50.8 {source="Orphanet:209981", source="Orphanet:209981/attributed", source="Orphanet:209981/ntbt"} xref: MESH:C562385 {source="MONDO:equivalentTo"} xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="Orphanet:209981/e"} @@ -164069,12 +166020,14 @@ is_a: MONDO:0000105 {source="DC-OMIM:206400"} ! anemia, nonspherocytic hemolytic id: MONDO:0008791 name: anencephaly 1 def: "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." [Orphanet:1048] +subset: gard_rare {source="GARD:5808"} subset: ordo_morphological_anomaly {source="Orphanet:1048"} synonym: "absence of a large part of the brain and the skull" RELATED [GARD:0005808] synonym: "anencephaly" BROAD [OMIM:206500] synonym: "anencephaly 1" EXACT [OMIM:206500, OMIM:genemap2] synonym: "ANPH" BROAD ABBREVIATION [OMIM:206500] synonym: "isolated anencephaly/exencephaly" EXACT [Orphanet:1048] +xref: GARD:5808 {source="Orphanet:1048"} xref: ICD10CM:Q00.0 {source="Orphanet:1048", source="Orphanet:1048/e", source="Orphanet:1048/specific"} xref: ICD9:740.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:206500 {source="Orphanet:1048", source="MONDO:equivalentTo", source="Orphanet:1048/e"} @@ -164096,9 +166049,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008792 name: familial angiolipomatosis def: "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." [Orphanet:199279] +subset: gard_rare {source="GARD:17089"} subset: ordo_disease {source="Orphanet:199279"} synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550] synonym: "angiolipomatosis, familial" RELATED [OMIM:206550] +xref: GARD:17089 {source="Orphanet:199279"} xref: ICD10CM:D17.9 {source="Orphanet:199279/attributed", source="Orphanet:199279/ntbt", source="Orphanet:199279"} xref: MESH:C565951 {source="MONDO:equivalentTo"} xref: OMIM:206550 {source="Orphanet:199279", source="MONDO:equivalentTo", source="Orphanet:199279/e"} @@ -164111,7 +166066,6 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0008793 name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert -subset: gard_rare {source="GARD:0008587"} synonym: "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" EXACT [OMIM:206570] synonym: "Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin" RELATED [GARD:0008587] synonym: "Divry-Van Bogaert syndrome" RELATED [OMIM:206570] @@ -164136,7 +166090,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0008795 name: aniridia-cerebellar ataxia-intellectual disability syndrome def: "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." [Orphanet:1065] -subset: gard_rare +subset: gard_rare {source="GARD:13"} subset: ordo_malformation_syndrome {source="Orphanet:1065"} synonym: "aniridia, cerebellar ataxia and mental deficiency" RELATED [GARD:0000013] synonym: "aniridia, cerebellar ataxia, and intellectual disability" RELATED [OMIM:206700] @@ -164145,6 +166099,7 @@ synonym: "GILLESPIE syndrome" RELATED [OMIM:206700] synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065] synonym: "GLSP" RELATED ABBREVIATION [OMIM:206700] xref: DOID:0111578 {source="MONDO:equivalentTo"} +xref: GARD:13 {source="Orphanet:1065"} xref: ICD10CM:G11.0 {source="Orphanet:1065", source="Orphanet:1065/attributed", source="Orphanet:1065/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536370 {source="MONDO:equivalentTo"} @@ -164166,12 +166121,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008796 name: aniridia-renal agenesis-psychomotor retardation syndrome def: "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." [Orphanet:1064] +subset: gard_rare {source="GARD:690"} subset: ordo_malformation_syndrome {source="Orphanet:1064"} synonym: "aniridia partial with unilateral renal agenesis and psychomotor retardation" RELATED [GARD:0000690] synonym: "aniridia renal agenesis psychomotor retardation" RELATED [GARD:0000690] synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [OMIM:206750] synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690] synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064] +xref: GARD:690 {source="Orphanet:1064"} xref: ICD10CM:Q87.8 {source="Orphanet:1064/attributed", source="Orphanet:1064/ntbt", source="Orphanet:1064"} xref: MESH:C000598722 {source="MONDO:equivalentTo"} xref: MESH:C536371 {source="Orphanet:1064/e", source="Orphanet:1064"} @@ -164196,7 +166153,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008797 name: anodontia def: "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." [Orphanet:99797] -subset: gard_rare {source="GARD:0005818"} +subset: gard_rare {source="GARD:5818"} subset: ordo_morphological_anomaly {source="Orphanet:99797"} synonym: "absence of permanent teeth" RELATED [GARD:0005818] synonym: "anodontia of permanent dentition" RELATED [OMIM:206780] @@ -164205,6 +166162,7 @@ synonym: "developmental absence of tooth" EXACT [DOID:13714] synonym: "teeth, permanent, absence of" RELATED [OMIM:206780] synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714] xref: DOID:13714 {source="MONDO:equivalentTo"} +xref: GARD:5818 {source="Orphanet:99797"} xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"} xref: ICD9:520.0 {source="DOID:13714"} xref: MedDRA:10002583 {source="Orphanet:99797", source="Orphanet:99797/e"} @@ -164228,6 +166186,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5818/anodont id: MONDO:0008798 name: nonsyndromic congenital nail disorder 4 def: "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16837"} subset: ordo_clinical_subtype {source="Orphanet:94150"} synonym: "anonychia congenita" RELATED [DOID:0050643] synonym: "anonychia congenita totalis" RELATED [Orphanet:94150] @@ -164243,6 +166202,7 @@ synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MON synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050643 {source="MONDO:equivalentObsolete"} xref: DOID:0080082 {source="MONDO:equivalentTo"} +xref: GARD:16837 {source="Orphanet:94150"} xref: ICD10CM:Q84.3 {source="Orphanet:94150/attributed", source="Orphanet:94150/ntbt", source="Orphanet:94150"} xref: MESH:C536377 {source="MONDO:equivalentTo"} xref: OMIM:206800 {source="Orphanet:94150/e", source="DOID:0050643", source="MONDO:equivalentTo", source="DOID:0080082", source="Orphanet:94150"} @@ -164261,6 +166221,7 @@ property_value: confidence "0.1666666666666663" xsd:double id: MONDO:0008799 name: anophthalmia/microphthalmia-esophageal atresia syndrome def: "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." [Orphanet:77298] +subset: gard_rare {source="GARD:1443"} subset: ordo_malformation_syndrome {source="Orphanet:77298"} synonym: "Aeg syndrome" RELATED [OMIM:206900] synonym: "anophthalmia clinical with associated anomalies" RELATED [GARD:0001443] @@ -164279,6 +166240,7 @@ synonym: "SOX2-related eye disorders" RELATED [GARD:0001443] synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298] synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443] xref: DOID:0111801 {source="MONDO:equivalentTo"} +xref: GARD:1443 {source="Orphanet:77298"} xref: ICD10CM:Q87.8 {source="Orphanet:77298/attributed", source="Orphanet:77298/ntbt", source="Orphanet:77298"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:206900 {source="Orphanet:77298/e", source="MONDO:equivalentTo", source="Orphanet:77298"} @@ -164294,6 +166256,7 @@ property_value: confidence "25.875" xsd:double id: MONDO:0008800 name: microphthalmia with limb anomalies def: "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." [Orphanet:1106] +subset: gard_rare {source="GARD:722"} subset: ordo_malformation_syndrome {source="Orphanet:1106"} synonym: "anophthalmia Waardenburg syndrome" RELATED [GARD:0000722] synonym: "anophthalmia-syndactyly" RELATED [OMIM:206920] @@ -164307,6 +166270,7 @@ synonym: "Ophthalmoacromelic syndrome" EXACT [OMIM:206920, Orphanet:1106] synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861] synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] xref: DOID:0060861 {source="MONDO:equivalentTo"} +xref: GARD:722 {source="Orphanet:1106"} xref: ICD10CM:Q87.2 {source="DOID:0060861", source="Orphanet:1106", source="Orphanet:1106/attributed", source="Orphanet:1106/ntbt"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537769 {source="MONDO:equivalentTo"} @@ -164341,7 +166305,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008803 name: Antley-Bixler syndrome def: "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." [Orphanet:83] -subset: gard_rare {source="GARD:0005826"} +subset: gard_rare {source="GARD:5826"} subset: ordo_malformation_syndrome {source="Orphanet:83"} synonym: "Antley Bixler syndrome" RELATED [GARD:0005826] synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410] @@ -164351,6 +166315,7 @@ synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826] synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462, OMIM:207410] xref: DOID:0050462 {source="MONDO:equivalentTo"} xref: DOID:0081289 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:5826 {source="Orphanet:83"} xref: ICD10CM:Q87.0 {source="Orphanet:83/attributed", source="Orphanet:83/ntbt", source="Orphanet:83"} xref: MESH:C537780 {source="Orphanet:83/e", source="Orphanet:83"} xref: MESH:D054882 {source="DOID:0050462"} @@ -164382,11 +166347,13 @@ replaced_by: MONDO:0017991 id: MONDO:0008806 name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome def: "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." [Orphanet:1112] +subset: gard_rare {source="GARD:3051"} subset: ordo_malformation_syndrome {source="Orphanet:1112"} synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" RELATED [GARD:0003051] synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620] synonym: "Johnson Munson syndrome" RELATED [GARD:0003051] synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112] +xref: GARD:3051 {source="Orphanet:1112"} xref: ICD10CM:Q87.8 {source="Orphanet:1112", source="Orphanet:1112/attributed", source="Orphanet:1112/ntbt"} xref: MESH:C535881 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} xref: OMIM:207620 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} @@ -164417,12 +166384,14 @@ consider: MONDO:0004731 id: MONDO:0008808 name: aplasia cutis congenita-intestinal lymphangiectasia syndrome def: "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." [Orphanet:1116] +subset: gard_rare {source="GARD:753"} subset: ordo_disease {source="Orphanet:1116"} synonym: "ACC with intestinal lymphangiectasia" RELATED [OMIM:207731] synonym: "aplasia cutis congenita intestinal lymphangiectasia" RELATED [GARD:0000753] synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMIM:207731] synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116] synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116] +xref: GARD:753 {source="Orphanet:1116"} xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} xref: Orphanet:1116 {source="OMIM:207731", source="MONDO:equivalentTo"} @@ -164440,7 +166409,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008809 name: polyneuropathy-hand defect syndrome def: "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." [Orphanet:2926] -subset: gard_rare +subset: gard_rare {source="GARD:2589"} subset: ordo_malformation_syndrome {source="Orphanet:2926"} synonym: "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740] @@ -164450,6 +166419,7 @@ synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926 synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589] synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926] synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589] +xref: GARD:2589 {source="Orphanet:2926"} xref: ICD10CM:Q87.8 {source="Orphanet:2926/attributed", source="Orphanet:2926/ntbt", source="Orphanet:2926"} xref: MESH:C535624 {source="MONDO:equivalentTo"} xref: OMIM:207740 {source="Orphanet:2926/e", source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"} @@ -164464,6 +166434,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2589/hamanis [Term] id: MONDO:0008810 name: familial apolipoprotein C-II deficiency +subset: gard_rare {source="GARD:759"} subset: ordo_clinical_subtype {source="Orphanet:309020"} synonym: "Apoc2 deficiency" RELATED [OMIM:207750] synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750] @@ -164473,6 +166444,7 @@ synonym: "familial apolipoprotein C-II deficiency" EXACT CLINGEN_PREFERRED [] synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750] synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432] xref: DOID:0111418 {source="MONDO:equivalentTo"} +xref: GARD:759 {source="Orphanet:309020"} xref: ICD10CM:E78.3 {source="Orphanet:309020/attributed", source="Orphanet:309020/ntbt", source="Orphanet:309020"} xref: OMIM:207750 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"} @@ -164489,7 +166461,7 @@ property_value: confidence "5.6" xsd:double id: MONDO:0008811 name: XK aprosencephaly def: "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." [Orphanet:3469] -subset: gard_rare {source="GARD:0000424"} +subset: gard_rare {source="GARD:424"} subset: ordo_malformation_syndrome {source="Orphanet:3469"} synonym: "aprosencephaly syndrome" RELATED [OMIM:207770] synonym: "aprosencephaly-atelencephaly syndrome" RELATED [GARD:0000424] @@ -164499,6 +166471,7 @@ synonym: "XK aprosencephaly syndrome" RELATED [Orphanet:3469] synonym: "Xk syndrome" RELATED [OMIM:207770] synonym: "XK-aprosencephaly" EXACT [Orphanet:3469] synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424] +xref: GARD:424 {source="Orphanet:3469"} xref: ICD10CM:Q04.3 {source="Orphanet:3469", source="Orphanet:3469/ntbt"} xref: MESH:C536767 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} xref: OMIM:207770 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} @@ -164514,11 +166487,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/424/xk-apros id: MONDO:0008812 name: AREDYLD syndrome def: "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." [Orphanet:1133] +subset: gard_rare {source="GARD:8509"} subset: ordo_malformation_syndrome {source="Orphanet:1133"} synonym: "acral renal ectodermal dysplasia lipoatrophic diabetes" RELATED [GARD:0008509] synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphanet:1133] synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780] synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780] +xref: GARD:8509 {source="Orphanet:1133"} xref: ICD10CM:Q87.8 {source="Orphanet:1133/attributed", source="Orphanet:1133/ntbt", source="Orphanet:1133"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537427 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} @@ -164536,9 +166511,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008813 name: arachnoid cyst def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080] -subset: gard_rare +subset: gard_rare {source="GARD:17"} subset: ordo_morphological_anomaly {source="Orphanet:2356"} synonym: "arachnoid cysts" RELATED [GARD:0000017] +xref: GARD:17 {source="Orphanet:2356"} xref: ICD10CM:G93.0 {source="Orphanet:2356/inclusion", source="Orphanet:2356/ntbt", source="Orphanet:2356"} xref: MedDRA:10049005 {source="Orphanet:2356", source="Orphanet:2356/e"} xref: MESH:D016080 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"} @@ -164558,6 +166534,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/17/arachnoid id: MONDO:0008814 name: hyperargininemia def: "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." [Orphanet:90] +subset: gard_rare {source="GARD:5840"} subset: ordo_disease {source="Orphanet:90"} synonym: "Arg1 deficiency" RELATED [OMIM:207800] synonym: "arginase deficiency" EXACT [OMIM:207800, Orphanet:90] @@ -164565,6 +166542,7 @@ synonym: "argininemia" EXACT [DOID:9278] synonym: "deficiency of canavanase" EXACT [DOID:9278] synonym: "hyperargininemia" EXACT CLINGEN_PREFERRED [OMIM:207800, Orphanet:90] xref: DOID:9278 {source="MONDO:equivalentTo"} +xref: GARD:5840 {source="Orphanet:90"} xref: ICD10CM:E72.2 {source="Orphanet:90", source="Orphanet:90/attributed", source="Orphanet:90/ntbt"} xref: ICD10CM:E72.21 {source="DOID:9278"} xref: MedDRA:10062695 {source="Orphanet:90", source="Orphanet:90/e"} @@ -164585,7 +166563,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008815 name: argininosuccinic aciduria def: "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." [Orphanet:23] -subset: gard_rare {source="GARD:0005843"} +subset: gard_rare {source="GARD:5843"} subset: ordo_disease {source="Orphanet:23"} synonym: "arginino succinase deficiency" RELATED [GARD:0005843] synonym: "argininosuccinase deficiency" EXACT [OMIM:207900, Orphanet:23] @@ -164603,6 +166581,7 @@ synonym: "deficiency of argininosuccinate lyase" EXACT [DOID:14755] synonym: "inborn error of urea synthesis, arginino succinic type" RELATED [GARD:0005843] synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843] xref: DOID:14755 {source="MONDO:equivalentTo"} +xref: GARD:5843 {source="Orphanet:23"} xref: ICD10CM:E72.2 {source="Orphanet:23/inclusion", source="Orphanet:23", source="Orphanet:23/ntbt"} xref: MedDRA:10058299 {source="Orphanet:23", source="Orphanet:23/e"} xref: MESH:D056807 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} @@ -164624,6 +166603,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5843/arginin id: MONDO:0008816 name: Chiari malformation type II def: "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." [Orphanet:1136] +subset: gard_rare {source="GARD:9232"} subset: ordo_morphological_anomaly {source="Orphanet:1136"} synonym: "Arnold Chiari malformation type II" RELATED [GARD:0009232] synonym: "Arnold-Chiari malformation" RELATED [OMIM:207950] @@ -164633,6 +166613,7 @@ synonym: "Chiari malformation type 2" EXACT [Orphanet:1136] synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136] synonym: "Chiari type II malformation" RELATED [GARD:0009232] synonym: "Cm2" RELATED [OMIM:207950] +xref: GARD:9232 {source="Orphanet:1136"} xref: ICD10CM:Q07.0 {source="Orphanet:1136", source="Orphanet:1136/e", source="Orphanet:1136/specific"} xref: MedDRA:10056945 {source="Orphanet:1136", source="Orphanet:1136/e"} xref: OMIM:207950 {source="Orphanet:1136", source="MONDO:equivalentTo", source="Orphanet:1136/e"} @@ -164676,11 +166657,13 @@ property_value: confidence "0.11934156378600824" xsd:double id: MONDO:0008818 name: arterial tortuosity syndrome def: "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." [Orphanet:3342] +subset: gard_rare {source="GARD:774"} subset: ordo_malformation_syndrome {source="Orphanet:3342"} synonym: "arterial tortuosity" RELATED [OMIM:208050] synonym: "arterial tortuosity syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:208050] synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208050, Orphanet:3342] xref: DOID:0050645 {source="MONDO:equivalentTo"} +xref: GARD:774 {source="Orphanet:3342"} xref: ICD10CM:I77.1 {source="Orphanet:3342", source="Orphanet:3342/attributed", source="Orphanet:3342/ntbt"} xref: ICD10CM:Q87.82 {source="MONDO:equivalentTo"} xref: MESH:C565942 {source="MONDO:equivalentTo"} @@ -164726,6 +166709,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008822 name: arthrogryposis, renal dysfunction, and cholestasis 1 def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15139"} synonym: "Arc syndrome" RELATED [OMIM:208085] synonym: "ARCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208085] synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:208085] @@ -164733,6 +166717,7 @@ synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MOND synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" EXACT [MONDO:design_pattern] synonym: "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111353 {source="MONDO:equivalentTo"} +xref: GARD:15139 {source="OMIM:208085"} xref: OMIM:208085 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:208085"} xref: UMLS:C1859722 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:208085"} @@ -164746,6 +166731,7 @@ property_value: confidence "2.2936507936507926" xsd:double id: MONDO:0008823 name: arthrogryposis multiplex congenita 2, neurogenic type def: "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." [Orphanet:1143] +subset: gard_rare {source="GARD:790"} subset: ordo_disease {source="Orphanet:1143"} synonym: "AMC neurogenic type" EXACT [DOID:0090124] synonym: "AMC, neurogenic type" RELATED [OMIM:208100] @@ -164755,6 +166741,7 @@ synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Le synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [Orphanet:1143] synonym: "neurogenic type of AMC" RELATED [GARD:0000790] xref: DOID:0090124 {source="MONDO:equivalentTo"} +xref: GARD:790 {source="Orphanet:1143"} xref: ICD10CM:Q74.3 {source="Orphanet:1143", source="Orphanet:1143/attributed", source="Orphanet:1143/ntbt", source="DOID:0090124"} xref: MESH:C536614 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} xref: OMIM:208100 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} @@ -164770,7 +166757,6 @@ property_value: confidence "21.66666666666673" xsd:double id: MONDO:0008824 name: fetal akinesia deformation sequence def: "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." [https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence] -subset: gard_rare {source="GARD:0009634"} subset: ordo_malformation_syndrome {source="Orphanet:994"} synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [OMIM:208150] synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [Orphanet:994] @@ -164800,6 +166786,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9634/fetal-a id: MONDO:0008825 name: arthrogryposis multiplex congenita-whistling face syndrome def: "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." [Orphanet:1150] +subset: gard_rare {source="GARD:792"} subset: ordo_malformation_syndrome {source="Orphanet:1150"} synonym: "arthrogryposis multiplex congenita whistling face" RELATED [GARD:0000792] synonym: "arthrogryposis, whistling face, and developintellectual disability" RELATED [OMIM:208155] @@ -164807,6 +166794,7 @@ synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED synonym: "ILLUM syndrome" RELATED [OMIM:208155] synonym: "Illum syndrome" EXACT [Orphanet:1150] synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792] +xref: GARD:792 {source="Orphanet:1150"} xref: ICD10CM:Q87.8 {source="Orphanet:1150/attributed", source="Orphanet:1150/ntbt", source="Orphanet:1150"} xref: MESH:C538401 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} xref: OMIM:208155 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} @@ -164821,11 +166809,13 @@ property_value: confidence "7.125" xsd:double id: MONDO:0008826 name: arthrogryposis-hyperkeratosis syndrome, lethal form def: "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." [Orphanet:1485] +subset: gard_rare {source="GARD:3053"} subset: ordo_malformation_syndrome {source="Orphanet:1485"} synonym: "arthrogryposis with hyperkeratosis" RELATED [OMIM:208158] synonym: "Johnston Aarons Schelley syndrome" RELATED [GARD:0003053] synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485] synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053] +xref: GARD:3053 {source="Orphanet:1485"} xref: MESH:C535883 {source="MONDO:equivalentTo"} xref: OMIM:208158 {source="Orphanet:1485", source="MONDO:equivalentTo", source="Orphanet:1485/e"} xref: Orphanet:1485 {source="OMIM:208158", source="MONDO:equivalentTo"} @@ -164838,6 +166828,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008827 name: progressive pseudorheumatoid arthropathy of childhood def: "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." [Orphanet:1159] +subset: gard_rare {source="GARD:9184"} subset: ordo_disease {source="Orphanet:1159"} synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical, OMIM:208230] synonym: "PPAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208230] @@ -164850,6 +166841,7 @@ synonym: "spondyloepiphyseal dysplasia tarda - progressive arthropathy" RELATED synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [OMIM:208230] synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159] xref: DOID:0090004 {source="MONDO:equivalentTo"} +xref: GARD:9184 {source="Orphanet:1159"} xref: ICD10CM:Q77.7 {source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/attributed", source="Orphanet:1159/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535387 {source="MONDO:equivalentTo", source="Orphanet:1159", source="Orphanet:1159/e"} @@ -164867,7 +166859,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008828 name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome def: "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." [Orphanet:2848] -subset: gard_rare +subset: gard_rare {source="GARD:306"} subset: ordo_disease {source="Orphanet:2848"} synonym: "arthropathy camptodactyly syndrome" RELATED [GARD:0000306] synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, Orphanet:2848] @@ -164889,6 +166881,7 @@ synonym: "pericarditis arthropathy camptodactyly syndrome" RELATED [GARD:0000306 synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250, Orphanet:2848] xref: DOID:0090127 {source="MONDO:equivalentTo"} xref: EFO:0009028 {source="MONDO:equivalentTo"} +xref: GARD:306 {source="Orphanet:2848"} xref: MESH:C537560 {source="MONDO:equivalentTo"} xref: OMIM:208250 {source="Orphanet:2848/e", source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"} xref: Orphanet:2848 {source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250"} @@ -164906,10 +166899,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/306/camptoda id: MONDO:0008829 name: chylous ascites def: "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." [Orphanet:1160] -subset: gard_rare {source="GARD:0001359"} +subset: gard_rare {source="GARD:1359"} subset: ordo_disease {source="Orphanet:1160"} synonym: "ascites, chylous" RELATED [OMIM:208300] synonym: "congenital chylous ascites" RELATED [GARD:0001359] +xref: GARD:1359 {source="Orphanet:1160"} xref: ICD10CM:I89.8 {source="Orphanet:1160/ntbt", source="Orphanet:1160"} xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003446 {source="Orphanet:1160/e", source="Orphanet:1160"} @@ -164928,6 +166922,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1359/chylous id: MONDO:0008830 name: aspartylglucosaminuria def: "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." [Orphanet:93] +subset: gard_rare {source="GARD:5854"} subset: ordo_disease {source="Orphanet:93"} synonym: "Aga deficiency" RELATED [OMIM:208400] synonym: "AGU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208400] @@ -164938,6 +166933,7 @@ synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, OMIM:208400] synonym: "Glycoasparaginase" RELATED [OMIM:208400] synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400] xref: DOID:0050461 {source="MONDO:equivalentTo"} +xref: GARD:5854 {source="Orphanet:93"} xref: ICD10CM:E77.1 {source="Orphanet:93/attributed", source="Orphanet:93/ntbt", source="Orphanet:93", source="DOID:0050461"} xref: MedDRA:10068220 {source="Orphanet:93/e", source="Orphanet:93"} xref: MESH:C538402 {source="Orphanet:93/e", source="Orphanet:93"} @@ -164962,6 +166958,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008831 name: asphyxiating thoracic dystrophy 1 def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." [DOID:0110085, PMID:20503315] +subset: gard_rare {source="GARD:15140"} synonym: "asphyxiating thoracic dystrophy 1" EXACT [OMIM:208500] synonym: "asphyxiating thoracic dystrophy type 1" EXACT [DOID:0110085, MONDORULE:1] synonym: "ATD1" EXACT ABBREVIATION [DOID:0110085] @@ -164970,6 +166967,7 @@ synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [DOI synonym: "SRTD1" EXACT ABBREVIATION [DOID:0110085, MONDO:Lexical, OMIM:208500] synonym: "thoracic-pelvic-phalangeal dystrophy" RELATED [OMIM:208500] xref: DOID:0110085 {source="MONDO:equivalentTo"} +xref: GARD:15140 {source="OMIM:208500"} xref: ICD10CM:Q77.2 {source="DOID:0110085"} xref: OMIM:208500 {source="MONDO:equivalentTo", source="DOID:0110085"} xref: Orphanet:474 {source="OMIM:208500"} @@ -164982,6 +166980,7 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0008832 name: right atrial isomerism def: "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." [DOID:0060856, PMID:14648004, PMID:20413652] +subset: gard_rare {source="GARD:6795"} subset: ordo_malformation_syndrome {source="Orphanet:97548"} synonym: "asplenia syndrome" RELATED [GARD:0006795] synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856] @@ -164998,6 +166997,7 @@ synonym: "right isomerism" RELATED [OMIM:208530] synonym: "splenic agenesis syndrome" RELATED [GARD:0006795] synonym: "Vah, autosomal recessive" RELATED [OMIM:208530] xref: DOID:0060856 {source="MONDO:equivalentTo"} +xref: GARD:6795 {source="Orphanet:97548"} xref: HP:0011536 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q20.6 {source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/attributed", source="Orphanet:97548/ntbt"} xref: MedDRA:10068335 {source="Orphanet:97548", source="Orphanet:97548/e"} @@ -165019,12 +167019,14 @@ property_value: IAO:0000589 "right atrial isomerism (disease)" xsd:string id: MONDO:0008833 name: renal-hepatic-pancreatic dysplasia 1 def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18431"} synonym: "NPHP3 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "renal-hepatic-pancreatic dysplasia 1" EXACT [MONDO:Lexical, OMIM:208540] synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1, OMIM:208540] synonym: "Rhpd" RELATED [OMIM:208540] synonym: "RHPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208540] +xref: GARD:18431 {source="OMIM:208540"} xref: OMIM:208540 {source="MONDO:equivalentTo"} xref: Orphanet:294415 {source="OMIM:208540"} xref: UMLS:C2673883 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:208540"} @@ -165080,6 +167082,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008838 name: ataxia - deafness - intellectual disability syndrome def: "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit." [Orphanet:1188] +subset: gard_rare {source="GARD:4644"} subset: ordo_malformation_syndrome {source="Orphanet:1188"} synonym: "Adr syndrome" RELATED [OMIM:208850] synonym: "ataxia, hearing loss, and intellectual disability" RELATED [GARD:0004644] @@ -165089,6 +167092,7 @@ synonym: "ataxia-hearing loss-intellectual disability syndrome" EXACT [Orphanet: synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004644] synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644] synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188] +xref: GARD:4644 {source="Orphanet:1188"} xref: ICD10CM:G11.1 {source="Orphanet:1188/attributed", source="Orphanet:1188/ntbt", source="Orphanet:1188"} xref: MESH:C535295 {source="MONDO:equivalentTo"} xref: OMIM:208850 {source="Orphanet:1188", source="MONDO:equivalentTo", source="Orphanet:1188/e"} @@ -165112,7 +167116,7 @@ is_a: MONDO:0003847 {source="MESH:C563086/inferred"} ! hereditary disease id: MONDO:0008840 name: ataxia telangiectasia def: "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." [Orphanet:100] -subset: gard_rare {source="GARD:0005862"} +subset: gard_rare {source="GARD:5862"} subset: ordo_disease {source="Orphanet:100"} synonym: "AT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208900] synonym: "AT, complementation group A" RELATED [OMIM:208900] @@ -165131,6 +167135,7 @@ synonym: "immunodeficiency with ataxia telangiectasia" RELATED [GARD:0005862] synonym: "Louis Bar syndrome" EXACT [DOID:12704] synonym: "Louis-Bar syndrome" EXACT [NCIT:C2887, OMIM:208900, Orphanet:100] xref: DOID:12704 {source="MONDO:equivalentTo"} +xref: GARD:5862 {source="Orphanet:100"} xref: ICD10CM:G11.3 {source="Orphanet:100/ntbt", source="Orphanet:100/inclusion", source="Orphanet:100"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003594 {source="Orphanet:100/e", source="Orphanet:100"} @@ -165159,7 +167164,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5862/ataxia- [Term] id: MONDO:0008841 name: ataxia-telangiectasia with generalized skin pigmentation and early death +subset: gard_rare {source="GARD:15141"} synonym: "ataxia-telangiectasia with generalized skin pigmentation and early death" EXACT [OMIM:208910] +xref: GARD:15141 {source="OMIM:208910"} xref: MESH:C565930 {source="MONDO:equivalentTo"} xref: OMIM:208910 {source="MONDO:equivalentTo"} xref: Orphanet:100 {source="OMIM:208910"} @@ -165172,6 +167179,7 @@ id: MONDO:0008842 name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." [Orphanet:1168] comment: Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, +subset: gard_rare {source="GARD:9283"} subset: ordo_disease {source="Orphanet:1168"} synonym: "AOA1" EXACT ABBREVIATION [Orphanet:1168] synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -165189,6 +167197,7 @@ synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009 synonym: "EOCA-HA" RELATED [GARD:0009283] synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern] xref: DOID:0050754 {source="MONDO:equivalentTo"} +xref: GARD:9283 {source="Orphanet:1168"} xref: ICD10CM:G11.3 {source="Orphanet:1168/attributed", source="Orphanet:1168/ntbt", source="Orphanet:1168"} xref: MESH:C538013 {source="MONDO:equivalentTo"} xref: OMIM:208920 {source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754", source="Orphanet:1168/e"} @@ -165205,11 +167214,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008843 name: atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome def: "A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994." [Orphanet:1192] +subset: gard_rare {source="GARD:2279"} subset: ordo_malformation_syndrome {source="Orphanet:1192"} synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [OMIM:209010] synonym: "Feigenbaum Bergeron Richardson syndrome" RELATED [GARD:0002279] synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192] synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279] +xref: GARD:2279 {source="Orphanet:1192"} xref: MESH:C565928 {source="MONDO:equivalentTo"} xref: OMIM:209010 {source="Orphanet:1192/e", source="MONDO:equivalentTo", source="Orphanet:1192"} xref: Orphanet:1192 {source="MONDO:equivalentTo", source="OMIM:209010"} @@ -165242,7 +167253,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008846 name: atransferrinemia def: "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." [Orphanet:1195] -subset: gard_rare {source="GARD:0009595"} +subset: gard_rare {source="GARD:9595"} subset: ordo_disease {source="Orphanet:1195"} synonym: "atransferrinemia" EXACT [OMIM:209300] synonym: "congenital atransferrinemia" EXACT [NCIT:C125693] @@ -165252,6 +167263,7 @@ synonym: "hereditary atransferrinemia" EXACT [NCIT:C125693] synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300] synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300] xref: DOID:0050649 {source="MONDO:equivalentTo"} +xref: GARD:9595 {source="Orphanet:1195"} xref: ICD10CM:E88.0 {source="Orphanet:1195/index", source="Orphanet:1195/e", source="Orphanet:1195"} xref: MESH:C538259 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="Orphanet:1195"} xref: NCIT:C125693 {source="MONDO:equivalentTo"} @@ -165273,11 +167285,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9595/atransf id: MONDO:0008847 name: atrichia with papular lesions def: "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." [Orphanet:86819] +subset: gard_rare {source="GARD:16762"} subset: ordo_disease {source="Orphanet:86819"} synonym: "APL" RELATED ABBREVIATION [DOID:0060689, MONDO:Lexical, OMIM:209500] synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500] synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819] xref: DOID:0060689 {source="MONDO:equivalentTo"} +xref: GARD:16762 {source="Orphanet:86819"} xref: ICD10CM:L65.8 {source="Orphanet:86819/attributed", source="Orphanet:86819/ntbt", source="DOID:0060689", source="Orphanet:86819"} xref: MESH:C565924 {source="MONDO:equivalentTo"} xref: OMIM:209500 {source="Orphanet:86819/e", source="MONDO:equivalentTo", source="DOID:0060689", source="Orphanet:86819"} @@ -165307,7 +167321,7 @@ property_value: IAO:0000589 "atrioventricular dissociation (disease)" xsd:string [Term] id: MONDO:0008849 name: atrophoderma vermiculata -subset: gard_rare {source="GARD:0009744"} +subset: gard_rare {source="GARD:9744"} subset: ordo_disease {source="Orphanet:79100"} synonym: "atrophoderma vermiculata" EXACT [MONDO:Lexical, OMIM:209700] synonym: "atrophoderma vermiculatum" RELATED [GARD:0009744] @@ -165320,6 +167334,7 @@ synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700] synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100] synonym: "honeycomb atrophy" RELATED [OMIM:209700] xref: DOID:0080756 {source="MONDO:equivalentTo"} +xref: GARD:9744 {source="Orphanet:79100"} xref: ICD10CM:L66.4 {source="Orphanet:79100", source="Orphanet:79100/ntbt", source="Orphanet:79100/index"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:209700 {source="Orphanet:79100/e", source="MONDO:equivalentTo", source="Orphanet:79100"} @@ -165334,10 +167349,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9744/atropho id: MONDO:0008850 name: Cooper-Jabs syndrome def: "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." [Orphanet:1488] +subset: gard_rare {source="GARD:16567"} subset: ordo_malformation_syndrome {source="Orphanet:1488"} synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [OMIM:209770] synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [OMIM:209770] synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488] +xref: GARD:16567 {source="Orphanet:1488"} xref: ICD10CM:Q87.8 {source="Orphanet:1488/attributed", source="Orphanet:1488/ntbt", source="Orphanet:1488"} xref: MESH:C565923 {source="MONDO:equivalentTo"} xref: OMIM:209770 {source="Orphanet:1488", source="MONDO:equivalentTo", source="Orphanet:1488/e"} @@ -165368,7 +167385,7 @@ replaced_by: MONDO:0800026 id: MONDO:0008853 name: Barber-Say syndrome def: "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." [Orphanet:1231] -subset: gard_rare +subset: gard_rare {source="GARD:819"} subset: ordo_malformation_syndrome {source="Orphanet:1231"} synonym: "Barber Say syndrome" RELATED [GARD:0000819] synonym: "BARBER-SAY syndrome" RELATED [OMIM:209885] @@ -165379,6 +167396,7 @@ synonym: "hypertrichosis atrophic skin ectropion macrostomia" RELATED [GARD:0000 synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819, OMIM:209885] synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231] xref: DOID:0060549 {source="MONDO:equivalentTo"} +xref: GARD:819 {source="Orphanet:1231"} xref: ICD10CM:Q87.0 {source="Orphanet:1231", source="Orphanet:1231/attributed", source="Orphanet:1231/ntbt"} xref: MESH:C537908 {source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} @@ -165397,13 +167415,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/819/barber-s id: MONDO:0008854 name: Bardet-Biedl syndrome 1 def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." [DOID:0110123, PMID:20177705] -subset: gard_rare +subset: gard_rare {source="GARD:820"} synonym: "Bardet-Biedl syndrome 1" EXACT [MONDO:Lexical, OMIM:209900] synonym: "Bardet-Biedl syndrome 1, modifier of" EXACT [OMIM:209900, OMIM:genemap2] synonym: "Bardet-Biedl syndrome type 1" EXACT [DOID:0110123, MONDORULE:1, OMIM:209900] synonym: "BBS1" EXACT ABBREVIATION [DOID:0110123, GARD:0000820, MONDO:Lexical, OMIM:209900] xref: DOID:0110123 {source="MONDO:equivalentTo"} xref: EFO:0009021 {source="MONDO:equivalentTo"} +xref: GARD:820 {source="OMIM:209900"} xref: ICD10CM:Q87.89 {source="DOID:0110123"} xref: MESH:C537909 {source="MONDO:equivalentTo"} xref: OMIM:209900 {source="GARD:0000820", source="MONDO:equivalentTo", source="DOID:0110123"} @@ -165437,7 +167456,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008855 name: MHC class II deficiency def: "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." [Orphanet:572] -subset: gard_rare +subset: gard_rare {source="GARD:824"} subset: ordo_disease {source="Orphanet:572"} synonym: "BARE lymphocyte syndrome" RELATED [MESH:C537079] synonym: "Bare lymphocyte syndrome" RELATED [OMIM:209920] @@ -165476,6 +167495,7 @@ synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complem synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920] synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079] xref: DOID:5812 {source="MONDO:equivalentTo"} +xref: GARD:824 {source="Orphanet:572"} xref: ICD10CM:D81.6 {source="DOID:5812"} xref: ICD10CM:D81.7 {source="Orphanet:572/specific", source="Orphanet:572/e", source="Orphanet:572"} xref: MESH:C537079 {source="MONDO:equivalentTo"} @@ -165537,7 +167557,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008857 name: Beemer-Ertbruggen syndrome def: "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." [Orphanet:1237] -subset: gard_rare {source="GARD:0000846"} +subset: gard_rare {source="GARD:846"} subset: ordo_malformation_syndrome {source="Orphanet:1237"} synonym: "Beemer Ertbruggen syndrome" RELATED [GARD:0000846] synonym: "Beemer lethal malformation syndrome" RELATED [OMIM:209970] @@ -165545,6 +167565,7 @@ synonym: "hydrocephalus, cardiac malformation, dense bones, etc" RELATED [GARD:0 synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM:209970] synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237] synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846] +xref: GARD:846 {source="Orphanet:1237"} xref: ICD10CM:Q87.8 {source="Orphanet:1237", source="Orphanet:1237/attributed", source="Orphanet:1237/ntbt"} xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} @@ -165562,7 +167583,6 @@ id: MONDO:0008858 name: Behr syndrome def: "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/849/behr-syndrome] comment: Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form -subset: gard_rare {source="GARD:0000849"} subset: ordo_malformation_syndrome {source="Orphanet:1239"} synonym: "Behr syndrome" EXACT [OMIM:210000] synonym: "BEHRS" RELATED ABBREVIATION [OMIM:210000] @@ -165591,7 +167611,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/849/behr-syn [Term] id: MONDO:0008859 name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification -subset: gard_rare {source="GARD:0008552"} synonym: "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" EXACT [OMIM:210050] synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [OMIM:210050] xref: MESH:C565905 {source="MONDO:equivalentTo"} @@ -165621,7 +167640,7 @@ id: MONDO:0008861 name: 3-methylcrotonyl-CoA carboxylase 1 deficiency alt_id: MONDO:0022326 def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:5665"} synonym: "3 Alpha methylcrotonylglycinuria 1" RELATED [GARD:0005665] synonym: "3 alpha methylcrotonylglycinuria 1" RELATED [MESH:C535308] synonym: "3 Methylcrotonyl-CoA carboxylase 1 deficiency" RELATED [GARD:0005665] @@ -165652,6 +167671,7 @@ synonym: "Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308] synonym: "methylcrotonylglycinuria type 1" RELATED [OMIM:210200] synonym: "methylcrotonylglycinuria type I" RELATED [MESH:C535308] xref: DOID:0080579 {source="MONDO:equivalentTo"} +xref: GARD:5665 {source="OMIM:210200"} xref: MESH:C535308 {source="MONDO:equivalentTo"} xref: OMIM:210200 {source="GARD:0005665", source="MEDIC:C535308", source="MONDO:equivalentTo"} xref: Orphanet:6 {source="GARD:0005665", source="OMIM:210200"} @@ -165670,6 +167690,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5665/3-methy id: MONDO:0008862 name: 3-methylcrotonyl-CoA carboxylase 2 deficiency def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9151"} synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:0009151] synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151] synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency" RELATED [OMIM:210210] @@ -165683,6 +167704,7 @@ synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151] synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210] xref: DOID:0080580 {source="MONDO:equivalentTo"} +xref: GARD:9151 {source="OMIM:210210"} xref: MESH:C535309 {source="MONDO:equivalentTo"} xref: OMIM:210210 {source="MONDO:equivalentTo"} xref: Orphanet:6 {source="OMIM:210210"} @@ -165697,7 +167719,7 @@ property_value: confidence "1.2222222222222219" xsd:double id: MONDO:0008863 name: sitosterolemia def: "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." [Orphanet:2882] -subset: gard_rare {source="GARD:0007653"} +subset: gard_rare {source="GARD:7653"} subset: ordo_disease {source="Orphanet:2882"} synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [OMIM:210250] synonym: "phytosterolemia" EXACT [DOID:0090019, OMIM:210250, Orphanet:2882] @@ -165706,6 +167728,7 @@ synonym: "retention of dietary cholesterol and abnormal retention of non-cholest synonym: "sitosterolemia" EXACT CLINGEN_PREFERRED [OMIM:210250] synonym: "STSL" RELATED ABBREVIATION [OMIM:210250] xref: DOID:0090019 {source="MONDO:equivalentTo"} +xref: GARD:7653 {source="Orphanet:2882"} xref: ICD10CM:E78.0 {source="Orphanet:2882/attributed", source="Orphanet:2882/ntbt", source="Orphanet:2882", source="DOID:0090019"} xref: MedDRA:10063985 {source="Orphanet:2882", source="Orphanet:2882/e"} xref: MESH:C537345 {source="Orphanet:2882", source="MONDO:equivalentTo", source="Orphanet:2882/e", source="DOID:0090019"} @@ -165726,7 +167749,7 @@ id: MONDO:0008864 name: Biemond syndrome type 2 def: "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." [Orphanet:141333] comment: Editor note: see also type 1, e.g. GARD:0000881 -subset: gard_rare +subset: gard_rare {source="GARD:882"} subset: ordo_disease {source="Orphanet:141333"} synonym: "Biemond syndrome 2" RELATED [GARD:0000882] synonym: "BIEMOND syndrome II" RELATED [OMIM:210350] @@ -165735,6 +167758,7 @@ synonym: "BS2" RELATED ABBREVIATION [GARD:0000882] synonym: "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" EXACT [Orphanet:141333] synonym: "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly" RELATED [GARD:0000882] synonym: "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" RELATED DEPRECATED [GARD:0000882] +xref: GARD:882 {source="Orphanet:141333"} xref: MESH:C565902 {source="MONDO:equivalentTo"} xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="Orphanet:141333/e"} xref: Orphanet:141333 {source="OMIM:210350", source="MONDO:equivalentTo"} @@ -165753,7 +167777,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/882/biemond- id: MONDO:0008865 name: Bietti crystalline corneoretinal dystrophy def: "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." [Orphanet:41751] -subset: gard_rare {source="GARD:0010050"} +subset: gard_rare {source="GARD:10050"} subset: ordo_disease {source="Orphanet:41751"} synonym: "BCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210370, Orphanet:41751] synonym: "Bietti crystalline corneoretinal dystrophy" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:210370, Orphanet:41751] @@ -165762,6 +167786,7 @@ synonym: "Bietti crystalline retinopathy" EXACT [Orphanet:41751] synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [OMIM:210370] synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664] xref: DOID:0050664 {source="MONDO:equivalentTo"} +xref: GARD:10050 {source="Orphanet:41751"} xref: ICD10CM:H15.5 {source="Orphanet:41751/attributed", source="Orphanet:41751/ntbt", source="Orphanet:41751"} xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="Orphanet:41751/e"} xref: NCIT:C179299 {source="MONDO:equivalentTo"} @@ -165779,10 +167804,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10050/bietti id: MONDO:0008866 name: bifid nose, autosomal recessive def: "Autosomal recessive form of bifid nose." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:15142"} synonym: "autosomal recessive bifid nose" EXACT [MONDO:design_pattern] synonym: "bifid nose, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:210400] synonym: "median fissure of Nose" RELATED [OMIM:210400] synonym: "Nose, Median cleft of" RELATED [OMIM:210400] +xref: GARD:15142 {source="OMIM:210400"} xref: OMIM:210400 {source="MONDO:equivalentTo"} xref: Orphanet:2695 {source="OMIM:210400"} xref: UMLS:C0221363 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:210400"} @@ -165795,7 +167822,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0008867 name: biliary atresia def: "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool." [Orphanet:30391] -subset: gard_rare {source="GARD:0012010"} +subset: gard_rare {source="GARD:12010"} subset: ordo_morphological_anomaly {source="Orphanet:30391"} synonym: "atresia of bile duct" EXACT [DOID:13608] synonym: "atresia of bile ducts" EXACT [Orphanet:30391] @@ -165805,6 +167832,7 @@ synonym: "isolated atresia of bile ducts" EXACT [Orphanet:30391] synonym: "isolated biliary atresia" RELATED [Orphanet:30391] synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391] xref: DOID:13608 {source="MONDO:equivalentTo"} +xref: GARD:12010 {source="Orphanet:30391"} xref: ICD10CM:Q44.2 {source="Orphanet:30391/e", source="DOID:13608", source="Orphanet:30391"} xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003650 {source="Orphanet:30391/e", source="Orphanet:30391"} @@ -165837,6 +167865,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008869 name: Seckel syndrome 1 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15143"} synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Bird-headed dwarfism" RELATED [OMIM:210600] synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600] @@ -165850,6 +167879,7 @@ synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600] synonym: "Seckel-type dwarfism" RELATED [OMIM:210600] xref: DOID:0070007 {source="MONDO:equivalentTo"} +xref: GARD:15143 {source="OMIM:210600"} xref: OMIM:210600 {source="MONDO:equivalentTo", source="DOID:0070007"} xref: Orphanet:808 {source="OMIM:210600"} xref: UMLS:C0265202 {source="OMIM:210600"} @@ -165867,12 +167897,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008870 name: bird headed-dwarfism, Montreal type def: "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." [Orphanet:2617] +subset: gard_rare {source="GARD:895"} subset: ordo_malformation_syndrome {source="Orphanet:2617"} synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GARD:0000895] synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895] synonym: "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" RELATED OMO:0003005 [] +xref: GARD:895 {source="Orphanet:2617"} xref: ICD10CM:Q87.1 {source="Orphanet:2617/attributed", source="Orphanet:2617/ntbt", source="Orphanet:2617"} xref: MESH:C535448 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} xref: OMIM:210700 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} @@ -165890,6 +167922,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008871 name: microcephalic osteodysplastic primordial dwarfism type I def: "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." [DOID:0060608, OMIM:210710, PMID:22302400] +subset: gard_rare {source="GARD:15144"} synonym: "Brachymelic primordial dwarfism" RELATED [OMIM:210710] synonym: "brachymelic primordial dwarfism" EXACT [DOID:0060608] synonym: "Cephaloskeletal dysplasia" RELATED [OMIM:210710] @@ -165903,6 +167936,7 @@ synonym: "osteodysplastic primordial dwarfism type I" EXACT [DOID:0060608] synonym: "osteodysplastic primordial dwarfism, type 1" RELATED [OMIM:210710] synonym: "Taybi-Linder syndrome" RELATED [DOID:0060608, OMIM:210710] xref: DOID:0060608 {source="MONDO:equivalentTo"} +xref: GARD:15144 {source="OMIM:210710"} xref: ICD10CM:Q87.1 {source="DOID:0060608"} xref: OMIM:210710 {source="MONDO:equivalentTo", source="DOID:0060608"} xref: Orphanet:2636 {source="OMIM:210710", source="DOID:0060608"} @@ -165922,7 +167956,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008872 name: microcephalic osteodysplastic primordial dwarfism type II def: "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:2637] -subset: gard_rare {source="GARD:0009844"} +subset: gard_rare {source="GARD:9844"} subset: ordo_malformation_syndrome {source="Orphanet:2637"} synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609, Orphanet:2637] synonym: "microcephalic osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] @@ -165937,6 +167971,7 @@ synonym: "osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609] synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] xref: DOID:0060609 {source="MONDO:equivalentTo"} +xref: GARD:9844 {source="Orphanet:2637"} xref: ICD10CM:Q87.1 {source="DOID:0060609", source="Orphanet:2637/attributed", source="Orphanet:2637/ntbt", source="Orphanet:2637"} xref: MESH:C565898 {source="MONDO:equivalentTo"} xref: OMIM:210720 {source="DOID:0060609", source="Orphanet:2637/e", source="MONDO:equivalentTo", source="Orphanet:2637"} @@ -165954,6 +167989,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9844/microce [Term] id: MONDO:0008873 name: microcephalic osteodysplastic primordial dwarfism, type 3 +subset: gard_rare {source="GARD:15145"} synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" RELATED [OMIM:210730] synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" RELATED [OMIM:210730] synonym: "microcephalic osteodysplastic primordial dwarfism, type III" RELATED [OMIM:210730] @@ -165961,6 +167997,7 @@ synonym: "Mopd 3" RELATED [OMIM:210730] synonym: "Mopd, Caroline Crachami type" RELATED [OMIM:210730] synonym: "Mopd, Sicilian fairy type" RELATED [OMIM:210730] synonym: "osteodysplastic primordial dwarfism, type 3" RELATED [OMIM:210730] +xref: GARD:15145 {source="OMIM:210730"} xref: MESH:C537320 {source="MONDO:equivalentTo"} xref: OMIM:210730 {source="MONDO:equivalentTo"} xref: Orphanet:2636 {source="OMIM:210730"} @@ -165973,13 +168010,14 @@ property_value: confidence "1.8124999999999996" xsd:double id: MONDO:0008874 name: Bangstad syndrome def: "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." [Orphanet:1227] -subset: gard_rare {source="GARD:0000812"} +subset: gard_rare {source="GARD:812"} subset: ordo_malformation_syndrome {source="Orphanet:1227"} synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet:1227] synonym: "Bangstad syndrome" EXACT [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency" RELATED OMO:0003005 [] +xref: GARD:812 {source="Orphanet:1227"} xref: ICD10CM:E31.8 {source="Orphanet:1227", source="Orphanet:1227/attributed", source="Orphanet:1227/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537902 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} @@ -165997,11 +168035,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/812/bangstad id: MONDO:0008875 name: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome def: "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." [Orphanet:2057] +subset: gard_rare {source="GARD:905"} subset: ordo_malformation_syndrome {source="Orphanet:2057"} synonym: "blepharophimosis - ptosis - esotropia - syndactyly - short stature" RELATED [GARD:0000905] synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [OMIM:210745] synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905] synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057] +xref: GARD:905 {source="Orphanet:2057"} xref: ICD10CM:Q87.8 {source="Orphanet:2057/attributed", source="Orphanet:2057/ntbt", source="Orphanet:2057"} xref: MESH:C536235 {source="MONDO:equivalentTo"} xref: OMIM:210745 {source="Orphanet:2057", source="MONDO:equivalentTo", source="Orphanet:2057/e"} @@ -166017,7 +168057,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008876 name: Bloom syndrome def: "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." [Orphanet:125] -subset: gard_rare {source="GARD:0000915"} +subset: gard_rare {source="GARD:915"} subset: ordo_disease {source="Orphanet:125"} synonym: "BLM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210900] synonym: "Bloom syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:210900] @@ -166031,6 +168071,7 @@ synonym: "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmen synonym: "MGRISCE1" RELATED ABBREVIATION [MONDO:cjm] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900] xref: DOID:2717 {source="MONDO:equivalentTo"} +xref: GARD:915 {source="Orphanet:125"} xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} @@ -166058,12 +168099,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/915/bloom-sy id: MONDO:0008877 name: blue diaper syndrome def: "Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria." [Orphanet:94086] -subset: gard_rare {source="GARD:0005939"} +subset: gard_rare {source="GARD:5939"} subset: ordo_disease {source="Orphanet:94086"} synonym: "blue diaper syndrome" EXACT [OMIM:211000] synonym: "Drummond syndrome" EXACT [Orphanet:94086] synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086] synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000] +xref: GARD:5939 {source="Orphanet:94086"} xref: ICD10CM:E70.8 {source="Orphanet:94086/ntbt", source="Orphanet:94086/inclusion", source="Orphanet:94086"} xref: MESH:C536239 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} xref: OMIM:211000 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} @@ -166079,11 +168121,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5939/blue-di id: MONDO:0008878 name: bone dysplasia, lethal Holmgren type def: "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." [Orphanet:1842] -subset: gard_rare {source="GARD:0000922"} +subset: gard_rare {source="GARD:922"} subset: ordo_malformation_syndrome {source="Orphanet:1842"} synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" EXACT [Orphanet:1842] synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922] synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120] +xref: GARD:922 {source="Orphanet:1842"} xref: ICD10CM:Q77.8 {source="Orphanet:1842", source="Orphanet:1842/attributed", source="Orphanet:1842/ntbt"} xref: MESH:C565896 {source="MONDO:equivalentTo"} xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="Orphanet:1842/e"} @@ -166102,7 +168145,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/922/bone-dys id: MONDO:0008879 name: Bowen-Conradi syndrome def: "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." [Orphanet:1270] -subset: gard_rare {source="GARD:0005950"} +subset: gard_rare {source="GARD:5950"} subset: ordo_malformation_syndrome {source="Orphanet:1270"} synonym: "Bowen Hutterite syndrome" RELATED [OMIM:211180] synonym: "Bowen Hutterite syndrome (formerly)" RELATED [GARD:0005950] @@ -166112,6 +168155,7 @@ synonym: "Bowen-Conradi Hutterite syndrome" RELATED [GARD:0005950] synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180] synonym: "BWCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211180] xref: DOID:0050684 {source="MONDO:equivalentTo"} +xref: GARD:5950 {source="Orphanet:1270"} xref: ICD10CM:Q87.8 {source="Orphanet:1270/attributed", source="Orphanet:1270/ntbt", source="Orphanet:1270"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537081 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} @@ -166144,11 +168188,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008881 name: kyphomelic dysplasia def: "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." [https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia] -subset: gard_rare {source="GARD:0010149"} +subset: gard_rare {source="GARD:10149"} subset: ordo_malformation_syndrome {source="Orphanet:1801"} synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350] synonym: "congenital bowing with short bones" RELATED [GARD:0010149] synonym: "kyphomelic dysplasia" EXACT [OMIM:211350] +xref: GARD:10149 {source="Orphanet:1801"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538128 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} xref: OMIM:211350 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} @@ -166164,10 +168209,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10149/kyphom id: MONDO:0008882 name: congenital bowing of long bones def: "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." [Orphanet:2292] -subset: gard_rare {source="GARD:0000953"} +subset: gard_rare {source="GARD:953"} subset: ordo_morphological_anomaly {source="Orphanet:2292"} synonym: "bowing of long bones congenital" RELATED [GARD:0000953] synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355] +xref: GARD:953 {source="Orphanet:2292"} xref: ICD10CM:Q68.3 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: ICD10CM:Q68.4 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: ICD10CM:Q68.5 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} @@ -166196,12 +168242,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008884 name: oculoosteocutaneous syndrome def: "A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." [Orphanet:2713] -subset: gard_rare +subset: gard_rare {source="GARD:992"} subset: ordo_malformation_syndrome {source="Orphanet:2713"} synonym: "anodontia-hypotrichosis syndrome" EXACT [OMIM:211370] synonym: "brachymetapody anodontia hypotrichosis albinoidism" EXACT [MONDO:0022605] synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" EXACT [OMIM:211370] synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370] +xref: GARD:992 {source="Orphanet:2713"} xref: ICD10CM:Q87.5 {source="Orphanet:2713", source="Orphanet:2713/attributed", source="Orphanet:2713/ntbt"} xref: MESH:C565893 {source="MONDO:equivalentTo"} xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="Orphanet:2713/e"} @@ -166218,6 +168265,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/992/brachyme id: MONDO:0008885 name: Elsahy-Waters syndrome def: "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." [Orphanet:1299] +subset: gard_rare {source="GARD:955"} subset: ordo_malformation_syndrome {source="Orphanet:1299"} synonym: "brachioskeletogenital syndrome" EXACT [OMIM:211380] synonym: "branchio-skeleto-genital syndrome" RELATED [GARD:0000955] @@ -166229,6 +168277,7 @@ synonym: "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [OMIM:603463] synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788] xref: DOID:0080631 {source="MONDO:equivalentTo"} +xref: GARD:955 {source="Orphanet:1299"} xref: ICD10CM:Q87.8 {source="Orphanet:1299", source="Orphanet:1299/attributed", source="Orphanet:1299/ntbt"} xref: MESH:C537084 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C566373 {source="MONDO:equivalentTo"} @@ -166251,7 +168300,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008886 name: Sabinas brittle hair syndrome -subset: gard_rare {source="GARD:0000313"} synonym: "brittle hair and mental Deficit" RELATED [OMIM:211390] synonym: "brittle hair syndrome, Sabinas type" EXACT [Orphanet:3123] synonym: "Sabinas brittle hair syndrome" EXACT [OMIM:211390] @@ -166267,12 +168315,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/313/sabinas- [Term] id: MONDO:0008887 name: bronchiectasis with or without elevated sweat chloride 1 +subset: gard_rare {source="GARD:18054"} synonym: "BESC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211400] synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [MONDO:Lexical, OMIM:211400] synonym: "bronchiectasis with or without elevated sweat chloride 1, modifier of" EXACT [OMIM:211400, OMIM:genemap2] synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1, OMIM:211400] synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:211400] xref: DOID:0080526 {source="MONDO:equivalentTo"} +xref: GARD:18054 {source="OMIM:211400"} xref: MESH:C567618 {source="MONDO:equivalentTo"} xref: OMIM:211400 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="OMIM:211400"} @@ -166285,10 +168335,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008888 name: Williams-Campbell syndrome +subset: gard_rare {source="GARD:21731"} subset: ordo_morphological_anomaly {source="Orphanet:411501"} synonym: "BRONCHOMALACIA" RELATED ABBREVIATION [OMIM:211450] synonym: "tracheobronchomalacia" RELATED [GARD:0007791] synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450] +xref: GARD:21731 {source="Orphanet:411501"} xref: ICD10CM:Q33.4 {source="Orphanet:411501/ntbt", source="Orphanet:411501"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:211450 {source="MONDO:equivalentTo"} @@ -166305,6 +168357,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008889 name: thromboangiitis obliterans def: "A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." [https://orcid.org/0000-0001-5208-3432, Orphanet:36258] +subset: gard_rare {source="GARD:5969"} subset: ordo_disease {source="Orphanet:36258"} synonym: "BUERGER disease" RELATED [OMIM:211480] synonym: "Buerger's disease" EXACT [DOID:12918, NCIT:C35070] @@ -166316,6 +168369,7 @@ synonym: "thromboangiitis obliterans" EXACT [DOID:12918, OMIM:211480, Orphanet:3 synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD9CM:443.1] xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"} xref: EFO:1001211 {source="MONDO:equivalentTo"} +xref: GARD:5969 {source="Orphanet:36258"} xref: ICD10CM:I73.1 {source="EFO:1001211", source="Orphanet:36258/e", source="DOID:12918", source="Orphanet:36258"} xref: ICD9:443.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12918"} xref: MedDRA:10043540 {source="EFO:1001211"} @@ -166338,7 +168392,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008890 name: progressive bulbar palsy def: "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." [https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy] -subset: gard_rare {source="GARD:0010928"} synonym: "bulbar palsy, progressive, of childhood" NARROW [OMIM:211500] synonym: "Fazio-Londe disease" NARROW [OMIM:211500] synonym: "progressive bulbar atrophy" RELATED [GARD:0010928] @@ -166367,6 +168420,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10928/progre id: MONDO:0008891 name: riboflavin transporter deficiency def: "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." [Orphanet:97229] +subset: gard_rare {source="GARD:9993"} subset: ordo_malformation_syndrome {source="Orphanet:97229"} synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229] synonym: "Brown-Vialetto-Van Laere syndrome 1" NARROW [MONDO:Lexical, OMIM:211530] @@ -166379,6 +168433,7 @@ synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:00 synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern] synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229] xref: DOID:0050694 {source="MONDO:equivalentTo"} +xref: GARD:9993 {source="Orphanet:97229"} xref: ICD10CM:G12.1 {source="Orphanet:97229", source="Orphanet:97229/attributed", source="Orphanet:97229/ntbt"} xref: MESH:C537111 {source="MONDO:equivalentTo", source="Orphanet:97229", source="Orphanet:97229/e"} xref: OMIMPS:211530 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -166400,7 +168455,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9993/ribofla id: MONDO:0008892 name: progressive familial intrahepatic cholestasis type 1 def: "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." [Orphanet:79306] -subset: gard_rare +subset: gard_rare {source="GARD:9802"} subset: ordo_clinical_subtype {source="Orphanet:79306"} synonym: "Byler disease" EXACT [Orphanet:79306] synonym: "Byler's disease" RELATED [GARD:0009802] @@ -166413,6 +168468,7 @@ synonym: "PFIC1" EXACT ABBREVIATION [GARD:0009802, MONDO:Lexical, OMIM:211600, O synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802] synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802] xref: DOID:0070226 {source="MONDO:equivalentTo"} +xref: GARD:9802 {source="Orphanet:79306"} xref: ICD10CM:K76.8 {source="Orphanet:79306", source="Orphanet:79306/attributed", source="Orphanet:79306/ntbt"} xref: MESH:C535933 {source="Orphanet:79306", source="Orphanet:79306/e"} xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo", source="Orphanet:79306/e"} @@ -166429,7 +168485,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008893 name: C syndrome def: "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." [Orphanet:1308] -subset: gard_rare {source="GARD:0005978"} +subset: gard_rare {source="GARD:5978"} subset: ordo_malformation_syndrome {source="Orphanet:1308"} synonym: "C syndrome" EXACT [OMIM:211750] synonym: "Opitz C trigonocephaly" EXACT [Orphanet:1308] @@ -166439,6 +168495,7 @@ synonym: "OTCS" EXACT ABBREVIATION [Orphanet:1308] synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308] synonym: "trigonocephaly syndrome" RELATED [OMIM:211750] xref: DOID:0111581 {source="MONDO:equivalentTo"} +xref: GARD:5978 {source="Orphanet:1308"} xref: ICD10CM:Q87.8 {source="Orphanet:1308/attributed", source="Orphanet:1308/ntbt", source="Orphanet:1308"} xref: MESH:C537418 {source="MONDO:equivalentTo"} xref: OMIM:211750 {source="Orphanet:1308/e", source="MONDO:equivalentTo", source="Orphanet:1308"} @@ -166459,10 +168516,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5978/c-syndr id: MONDO:0008894 name: cataract-hypertrichosis-intellectual disability syndrome def: "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." [Orphanet:1375] +subset: gard_rare {source="GARD:1052"} subset: ordo_malformation_syndrome {source="Orphanet:1375"} synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375] synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [OMIM:211770] synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [OMIM:211770] +xref: GARD:1052 {source="Orphanet:1375"} xref: ICD10CM:Q87.8 {source="Orphanet:1375/attributed", source="Orphanet:1375/ntbt", source="Orphanet:1375"} xref: MESH:C537959 {source="MONDO:equivalentTo"} xref: OMIM:211770 {source="Orphanet:1375", source="MONDO:equivalentTo", source="Orphanet:1375/e"} @@ -166480,6 +168539,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008895 name: hereditary arterial and articular multiple calcification syndrome def: "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." [Orphanet:289601] +subset: gard_rare {source="GARD:10762"} subset: ordo_disease {source="Orphanet:289601"} synonym: "ACDC" RELATED ABBREVIATION [GARD:0010762] synonym: "arterial calcification and distal joint calcification" RELATED [GARD:0010762] @@ -166488,6 +168548,7 @@ synonym: "arterial calcification due to deficiency of Cd73" RELATED [OMIM:211800 synonym: "calcification of joints and arteries" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601] synonym: "CALJA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211800, Orphanet:289601] xref: DOID:0111582 {source="MONDO:equivalentTo"} +xref: GARD:10762 {source="Orphanet:289601"} xref: MESH:C565891 {source="MONDO:equivalentTo"} xref: OMIM:211800 {source="MONDO:equivalentTo", source="Orphanet:289601", source="Orphanet:289601/e"} xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"} @@ -166503,13 +168564,14 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0008896 name: campomelia, Cumming type def: "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." [Orphanet:1318] -subset: gard_rare {source="GARD:0001061"} +subset: gard_rare {source="GARD:1061"} subset: ordo_malformation_syndrome {source="Orphanet:1318"} synonym: "campomelia Cumming type" RELATED [GARD:0001061] synonym: "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" RELATED [GARD:0001061] synonym: "campomelia, Cumming type" EXACT [OMIM:211890] synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890] synonym: "Cumming syndrome" RELATED [OMIM:211890] +xref: GARD:1061 {source="Orphanet:1318"} xref: ICD10CM:Q87.8 {source="Orphanet:1318", source="Orphanet:1318/attributed", source="Orphanet:1318/ntbt"} xref: MESH:C537966 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: OMIM:211890 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} @@ -166536,7 +168598,7 @@ replaced_by: MONDO:0100251 id: MONDO:0008898 name: camptodactyly syndrome, Guadalajara type 1 def: "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." [Orphanet:1327] -subset: gard_rare {source="GARD:0001067"} +subset: gard_rare {source="GARD:1067"} subset: ordo_malformation_syndrome {source="Orphanet:1327"} synonym: "camptodactyly syndrome Guadalajara type 1" RELATED [GARD:0001067] synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [OMIM:211910] @@ -166545,6 +168607,7 @@ synonym: "faciothoracoskeletal syndrome" RELATED [OMIM:211910] synonym: "FTSS" RELATED ABBREVIATION [GARD:0001067] synonym: "GCS 1" RELATED [GARD:0001067] synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211910] +xref: GARD:1067 {source="Orphanet:1327"} xref: ICD10CM:Q87.1 {source="Orphanet:1327", source="Orphanet:1327/attributed", source="Orphanet:1327/ntbt"} xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} @@ -166563,12 +168626,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1067/camptod id: MONDO:0008899 name: camptodactyly syndrome, Guadalajara type 2 def: "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." [Orphanet:1326] -subset: gard_rare {source="GARD:0001068"} +subset: gard_rare {source="GARD:1068"} subset: ordo_malformation_syndrome {source="Orphanet:1326"} synonym: "camptodactyly syndrome Guadalajara type 2" RELATED [GARD:0001068] synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920] synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920] synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068] +xref: GARD:1068 {source="Orphanet:1326"} xref: ICD10CM:Q87.1 {source="Orphanet:1326", source="Orphanet:1326/attributed", source="Orphanet:1326/ntbt"} xref: MESH:C537971 {source="Orphanet:1326", source="Orphanet:1326/e"} xref: MESH:C567138 {source="MONDO:equivalentTo"} @@ -166590,9 +168654,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1068/camptod id: MONDO:0008900 name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia def: "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." [Orphanet:1321] +subset: gard_rare {source="GARD:1064"} subset: ordo_malformation_syndrome synonym: "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" EXACT [OMIM:211930] synonym: "camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia" RELATED [GARD:0001064] +xref: GARD:1064 {source="Orphanet:1321"} xref: ICD10CM:Q87.2 {source="Orphanet:1321"} xref: MESH:C537287 {source="Orphanet:1321"} xref: MESH:C537974 {source="Orphanet:1321", source="MONDO:equivalentTo"} @@ -166608,10 +168674,11 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:1321"} ! Autosomal id: MONDO:0008901 name: Tel Hashomer camptodactyly syndrome def: "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." [Orphanet:3292, PMID:24171333] -subset: gard_rare {source="GARD:0005128"} +subset: gard_rare {source="GARD:5128"} subset: ordo_malformation_syndrome {source="Orphanet:3292"} synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960] synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960] +xref: GARD:5128 {source="Orphanet:3292"} xref: ICD10CM:Q74.0 {source="Orphanet:3292/attributed", source="Orphanet:3292/ntbt", source="Orphanet:3292"} xref: MESH:C536953 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} xref: OMIM:211960 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} @@ -166625,7 +168692,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5128/tel-has [Term] id: MONDO:0008902 name: camptodactyly-ichthyosis syndrome -subset: gard_rare {source="GARD:0010134"} synonym: "camptodactyly ichthyosis syndrome" RELATED [GARD:0010134] synonym: "camptodactyly-ichthyosis syndrome" EXACT [OMIM:211965] xref: MESH:C537976 {source="MONDO:equivalentTo"} @@ -166704,11 +168770,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008904 name: camptomelic syndrome, long-limb type -subset: gard_rare {source="GARD:0001071"} +subset: gard_rare {source="GARD:1071"} synonym: "campomelic syndrome long limb type" RELATED [GARD:0001071] synonym: "campomelic syndrome, long-limb type" RELATED [OMIM:211990] synonym: "Camptomelic syndrome long limb type" RELATED [GARD:0001071] synonym: "camptomelic syndrome, long-limb type" EXACT [OMIM:211990] +xref: GARD:1071 {source="OMIM:211990"} xref: MESH:C537977 {source="MONDO:equivalentTo"} xref: OMIM:211990 {source="MONDO:equivalentTo"} xref: Orphanet:140 {source="OMIM:211990"} @@ -166721,6 +168788,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1071/camptom [Term] id: MONDO:0008905 name: predisposition to invasive fungal disease due to CARD9 deficiency +subset: gard_rare {source="GARD:17795"} subset: ordo_disease {source="Orphanet:457088"} synonym: "CANDF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212050] synonym: "candidiasis familial chronic mucocutaneous, autosomal recessive" RELATED [GARD:0001077] @@ -166731,6 +168799,7 @@ synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1, OMIM:212050] synonym: "CARD9 deficiency" RELATED [GARD:0001077] synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050] synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088] +xref: GARD:17795 {source="Orphanet:457088"} xref: ICD10CM:D84.8 {source="Orphanet:457088/attributed", source="Orphanet:457088/ntbt", source="Orphanet:457088"} xref: OMIM:212050 {source="Orphanet:457088/e", source="MONDO:equivalentTo", source="Orphanet:457088"} xref: Orphanet:457088 {source="MONDO:equivalentTo"} @@ -166753,6 +168822,7 @@ is_obsolete: true id: MONDO:0008907 name: PMM2-congenital disorder of glycosylation def: "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." [Orphanet:79318] +subset: gard_rare {source="GARD:9826"} subset: ordo_disease {source="Orphanet:79318"} synonym: "carbohydrate deficient glycoprotein syndrome type Ia" EXACT [Orphanet:79318] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" RELATED [GARD:0009826] @@ -166772,6 +168842,7 @@ synonym: "PMM2-CDG" EXACT ABBREVIATION [Orphanet:79318] synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826] synonym: "PMM2-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080552 {source="MONDO:equivalentTo"} +xref: GARD:9826 {source="Orphanet:79318"} xref: ICD10CM:E77.8 {source="Orphanet:79318/attributed", source="Orphanet:79318/ntbt", source="Orphanet:79318"} xref: MESH:C535739 {source="MONDO:equivalentTo"} xref: NCIT:C126868 {source="MONDO:equivalentTo"} @@ -166794,6 +168865,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008908 name: MGAT2-congenital disorder of glycosylation def: "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." [Orphanet:79329] +subset: gard_rare {source="GARD:9828"} subset: ordo_disease {source="Orphanet:79329"} synonym: "Alkuraya syndrome" RELATED [OMIM:212066] synonym: "carbohydrate deficient glycoprotein syndrome type IIa" EXACT [Orphanet:79329] @@ -166816,6 +168888,7 @@ synonym: "MGAT2-CDG" EXACT ABBREVIATION [Orphanet:79329] synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828] synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329] xref: DOID:0070253 {source="MONDO:equivalentTo"} +xref: GARD:9828 {source="Orphanet:79329"} xref: ICD10CM:E77.8 {source="Orphanet:79329/attributed", source="Orphanet:79329/ntbt", source="Orphanet:79329"} xref: MESH:C535752 {source="MONDO:equivalentTo"} xref: OMIM:212066 {source="Orphanet:79329", source="MONDO:equivalentTo", source="Orphanet:79329/e"} @@ -166835,7 +168908,6 @@ property_value: confidence "12.055555555555557" xsd:double [Term] id: MONDO:0008909 name: congenital disorder of glycosylation, type i/IIx -subset: gard_rare {source="GARD:0009840"} synonym: "CDG X" RELATED [GARD:0009840] synonym: "CDG-X" RELATED [OMIM:212067] synonym: "congenital disorder of glycosylation type I/IIX" RELATED [GARD:0009840] @@ -166866,7 +168938,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008911 name: cardiac lipidosis, familial +subset: gard_rare {source="GARD:15148"} synonym: "cardiac lipidosis, familial" EXACT [OMIM:212080] +xref: GARD:15148 {source="OMIM:212080"} xref: MESH:C565884 {source="MONDO:equivalentTo"} xref: OMIM:212080 {source="MONDO:equivalentTo"} xref: Orphanet:137675 {source="OMIM:212080"} @@ -166903,7 +168977,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008914 name: cardioauditory syndrome of Sanchez Cascos -subset: gard_rare {source="GARD:0008519"} synonym: "cardioauditory syndrome of Sanchez Cascos" EXACT [OMIM:212100] synonym: "Sanchez Cascos cardioauditory syndrome" RELATED [GARD:0008519] xref: MESH:C535577 {source="MONDO:equivalentTo"} @@ -166916,6 +168989,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8519/cardioa id: MONDO:0008915 name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome def: "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." [Orphanet:2229] +subset: gard_rare {source="GARD:3373"} subset: ordo_malformation_syndrome {source="Orphanet:2229"} synonym: "cardiogenital syndrome" EXACT [Orphanet:2229] synonym: "cardiomyopathy with primary testicular failure" RELATED [OMIM:212112] @@ -166927,6 +169001,7 @@ synonym: "genital anomaly with cardiomyopathy" RELATED [OMIM:212112] synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229] synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229] xref: DOID:0111584 {source="MONDO:equivalentTo"} +xref: GARD:3373 {source="Orphanet:2229"} xref: ICD10CM:Q87.8 {source="Orphanet:2229", source="Orphanet:2229/attributed", source="Orphanet:2229/ntbt"} xref: NCIT:C174217 {source="MONDO:equivalentTo"} xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="Orphanet:2229/e"} @@ -166957,12 +169032,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008917 name: heart defects-limb shortening syndrome def: "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." [Orphanet:1354] -subset: gard_rare +subset: gard_rare {source="GARD:2613"} subset: ordo_malformation_syndrome {source="Orphanet:1354"} synonym: "cardioskeletal syndrome kuwaiti type" RELATED [] synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135] synonym: "heart defect and limb shortening syndrome" EXACT [] synonym: "heart defects and limb shortening" RELATED [GARD:0002613] +xref: GARD:2613 {source="Orphanet:1354"} xref: ICD10CM:Q87.2 {source="Orphanet:1354", source="Orphanet:1354/attributed", source="Orphanet:1354/ntbt"} xref: MESH:C535850 {source="Orphanet:1354", source="MONDO:equivalentTo", source="Orphanet:1354/e"} xref: OMIM:212135 {source="Orphanet:1354", source="GARD:0002613", source="MONDO:equivalentTo", source="Orphanet:1354/e"} @@ -166981,7 +169057,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2613/cardios id: MONDO:0008918 name: carnitine-acylcarnitine translocase deficiency def: "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." [Orphanet:159] -subset: gard_rare {source="GARD:0001123"} +subset: gard_rare {source="GARD:1123"} subset: ordo_disease {source="Orphanet:159"} synonym: "CACT deficiency" EXACT [Orphanet:159] synonym: "Cact deficiency" RELATED [OMIM:212138] @@ -166989,6 +169065,7 @@ synonym: "CACTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212138] synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [OMIM:212138] synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:212138] xref: DOID:0111585 {source="MONDO:equivalentTo"} +xref: GARD:1123 {source="Orphanet:159"} xref: ICD10CM:E71.3 {source="Orphanet:159", source="Orphanet:159/attributed", source="Orphanet:159/ntbt"} xref: MESH:C562812 {source="MONDO:equivalentTo"} xref: NCIT:C133086 {source="MONDO:equivalentTo"} @@ -167007,6 +169084,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1123/carniti id: MONDO:0008919 name: systemic primary carnitine deficiency disease def: "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." [Orphanet:158] +subset: gard_rare {source="GARD:5104"} subset: ordo_disease {source="Orphanet:158"} synonym: "Carnitine deficiency" EXACT [NCIT:C98864] synonym: "Carnitine deficiency, primary" RELATED [OMIM:212140] @@ -167030,6 +169108,7 @@ synonym: "systemic Carnitine deficiency" RELATED [OMIM:212140] synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158] synonym: "systemic primary carnitine deficiency disease" EXACT CLINGEN_PREFERRED [] xref: DOID:14365 {source="MONDO:equivalentTo"} +xref: GARD:5104 {source="Orphanet:158"} xref: ICD10CM:E71.3 {source="Orphanet:158", source="Orphanet:158/attributed", source="Orphanet:158/ntbt"} xref: ICD10CM:E71.41 {source="DOID:14365"} xref: ICD10CM:E71.42 {source="DOID:14365"} @@ -167051,7 +169130,6 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0008920 name: carnitine deficiency, myopathic -subset: gard_rare {source="GARD:0006616"} synonym: "carnitine deficiency, myopathic" EXACT [OMIM:212160] synonym: "myopathic carnitine deficiency" RELATED [GARD:0006616] xref: MESH:C536100 {source="MONDO:equivalentTo"} @@ -167064,10 +169142,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6616/myopath id: MONDO:0008921 name: carnosinemia def: "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." [Orphanet:1361] +subset: gard_rare {source="GARD:6001"} subset: ordo_disease {source="Orphanet:1361"} synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361] synonym: "carnosinemia" EXACT [OMIM:212200] synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361] +xref: GARD:6001 {source="Orphanet:1361"} xref: ICD10CM:E70.8 {source="Orphanet:1361/attributed", source="Orphanet:1361/ntbt", source="Orphanet:1361"} xref: NCIT:C125661 {source="MONDO:equivalentTo"} xref: OMIM:212200 {source="Orphanet:1361/e", source="MONDO:equivalentTo", source="Orphanet:1361"} @@ -167086,7 +169166,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008922 name: Sengers syndrome def: "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." [Orphanet:1369] -subset: gard_rare {source="GARD:0001142"} +subset: gard_rare {source="GARD:1142"} subset: ordo_disease {source="Orphanet:1369"} synonym: "cardiomyopathic mitochondrial DNA depletion syndrome 10" RELATED [GARD:0001142] synonym: "cardiomyopathy and cataract" RELATED [OMIM:212350] @@ -167096,6 +169176,7 @@ synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132] synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [OMIM:212350] synonym: "Sengers syndrome" EXACT CLINGEN_PREFERRED [OMIM:212350, Orphanet:1369] xref: DOID:0080132 {source="MONDO:equivalentTo"} +xref: GARD:1142 {source="Orphanet:1369"} xref: ICD10CM:Q87.8 {source="Orphanet:1369", source="Orphanet:1369/attributed", source="Orphanet:1369/ntbt"} xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} @@ -167115,7 +169196,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1142/sengers id: MONDO:0008923 name: autosomal recessive palmoplantar keratoderma and congenital alopecia def: "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." [Orphanet:1366] -subset: gard_rare {source="GARD:0001139"} +subset: gard_rare {source="GARD:1139"} subset: ordo_disease {source="Orphanet:1366"} synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1366] synonym: "cass" RELATED [GARD:0001139] @@ -167129,6 +169210,7 @@ synonym: "PPK-CA, Wallis type" EXACT [Orphanet:1366] synonym: "Ppkca, Wallis type" RELATED [OMIM:212360] synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212360] xref: DOID:0111245 {source="MONDO:equivalentTo"} +xref: GARD:1139 {source="Orphanet:1366"} xref: ICD10CM:Q82.8 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} xref: ICD10CM:Q84.0 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} xref: MESH:C535336 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} @@ -167164,7 +169246,6 @@ id: MONDO:0008925 name: cataract 46 juvenile-onset def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series. {source="OMIM:212500"} -subset: gard_rare synonym: "cataract 46, juvenile-onset" RELATED [OMIM:212500] synonym: "cataract Hutterite type" RELATED [GARD:0001150] synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500] @@ -167194,7 +169275,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1150/catarac id: MONDO:0008926 name: COFS syndrome def: "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." [Orphanet:1466] -subset: gard_rare +subset: gard_rare {source="GARD:6027"} subset: ordo_clinical_subtype {source="Orphanet:1466"} subset: prototype_pattern synonym: "cerebro-oculo-facio-skeletal syndrome" EXACT [NCIT:C3817] @@ -167202,6 +169283,7 @@ synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:146 synonym: "COFS" EXACT ABBREVIATION [] synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466] xref: DOID:0080910 {source="MONDO:equivalentTo"} +xref: GARD:6027 {source="Orphanet:1466"} xref: ICD10CM:Q87.1 {source="Orphanet:1466/attributed", source="Orphanet:1466/ntbt", source="Orphanet:1466"} xref: NCIT:C3817 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: OMIMPS:214150 {source="MONDO:equivalentTo"} @@ -167220,10 +169302,12 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:214150"} ! inheri id: MONDO:0008927 name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome def: "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." [Orphanet:435930] +subset: gard_rare {source="GARD:17719"} subset: ordo_disease {source="Orphanet:435930"} synonym: "ODRMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212550] synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical, OMIM:212550] xref: DOID:0080635 {source="MONDO:equivalentTo"} +xref: GARD:17719 {source="Orphanet:435930"} xref: ICD10CM:Q14.8 {source="Orphanet:435930/attributed", source="Orphanet:435930/ntbt", source="Orphanet:435930"} xref: MESH:C565876 {source="MONDO:equivalentTo"} xref: OMIM:212550 {source="Orphanet:435930", source="MONDO:equivalentTo", source="Orphanet:435930/e"} @@ -167241,6 +169325,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008928 name: cataract-ataxia-deafness syndrome def: "Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." [Orphanet:1368] +subset: gard_rare {source="GARD:1141"} subset: ordo_disease {source="Orphanet:1368"} synonym: "Begeer syndrome" RELATED [GARD:0001141] synonym: "cataract ataxia deafness" RELATED [GARD:0001141] @@ -167248,6 +169333,7 @@ synonym: "cataract ataxia deafness syndrome" RELATED [GARD:0001141] synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710] synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141] synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710] +xref: GARD:1141 {source="Orphanet:1368"} xref: ICD10CM:G11.2 {source="Orphanet:1368", source="Orphanet:1368/attributed", source="Orphanet:1368/ntbt"} xref: MESH:C538283 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} xref: OMIM:212710 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} @@ -167292,6 +169378,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008931 name: Cenani-Lenz syndactyly syndrome def: "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." [Orphanet:3258] +subset: gard_rare {source="GARD:5084"} subset: ordo_malformation_syndrome {source="Orphanet:3258"} synonym: "Cenani syndactylism" RELATED [OMIM:212780] synonym: "Cenani syndactyly" EXACT [Orphanet:3258] @@ -167304,6 +169391,7 @@ synonym: "syndactyly Cenani Lenz type" RELATED [GARD:0005084] synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258] synonym: "syndactyly, type 7" RELATED [OMIM:212780] xref: DOID:0090015 {source="MONDO:equivalentTo"} +xref: GARD:5084 {source="Orphanet:3258"} xref: ICD10CM:Q78.4 {source="Orphanet:3258/attributed", source="Orphanet:3258/ntbt", source="Orphanet:3258", source="DOID:0090015"} xref: MESH:C538150 {source="MONDO:equivalentTo"} xref: OMIM:212780 {source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015", source="Orphanet:3258/e"} @@ -167339,11 +169427,13 @@ is_a: MONDO:0003847 {source="MESH:C565872/inferred"} ! hereditary disease id: MONDO:0008934 name: cerebellar ataxia-ectodermal dysplasia syndrome def: "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." [Orphanet:1174] +subset: gard_rare {source="GARD:1189"} subset: ordo_malformation_syndrome {source="Orphanet:1174"} synonym: "cerebellar ataxia - ectodermal dysplasia" RELATED [GARD:0001189] synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835] synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189] synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189] +xref: GARD:1189 {source="Orphanet:1174"} xref: ICD10CM:G11.1 {source="Orphanet:1174/attributed", source="Orphanet:1174/ntbt", source="Orphanet:1174"} xref: MESH:C535350 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} xref: OMIM:212835 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} @@ -167357,6 +169447,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0008935 name: cerebellar ataxia-hypogonadism syndrome def: "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." [Orphanet:1173] +subset: gard_rare {source="GARD:3314"} subset: ordo_disease {source="Orphanet:1173"} synonym: "cerebellar ataxia - hypogonadism" RELATED [GARD:0003314] synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [OMIM:212840] @@ -167368,6 +169459,7 @@ synonym: "luteinizing hormone releasing hormone, deficiency of with ataxia" RELA synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [Orphanet:1173] synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840] xref: DOID:0111587 {source="MONDO:equivalentTo"} +xref: GARD:3314 {source="Orphanet:1173"} xref: ICD10CM:G11.8 {source="Orphanet:1173/attributed", source="Orphanet:1173/ntbt", source="Orphanet:1173"} xref: MESH:C565870 {source="MONDO:equivalentTo"} xref: OMIM:212840 {source="Orphanet:1173/e", source="MONDO:equivalentTo", source="Orphanet:1173"} @@ -167402,6 +169494,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008938 name: early-onset cerebellar ataxia with retained tendon reflexes def: "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." [Orphanet:1177] +subset: gard_rare {source="GARD:2600"} subset: ordo_disease {source="Orphanet:1177"} synonym: "ataxia, harding type" RELATED [GARD:0002600] synonym: "cerebellar ataxia early onset with retained tendon reflex" RELATED [GARD:0002600] @@ -167409,6 +169502,7 @@ synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED synonym: "EOCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212895, Orphanet:1177] synonym: "EOCARR" EXACT ABBREVIATION [Orphanet:1177] synonym: "Harding ataxia" EXACT [Orphanet:1177] +xref: GARD:2600 {source="Orphanet:1177"} xref: ICD10CM:G11.1 {source="Orphanet:1177/attributed", source="Orphanet:1177/ntbt", source="Orphanet:1177"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535633 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"} @@ -167423,6 +169517,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0008939 name: isolated cerebellar hypoplasia/agenesis def: "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." [NCIT:C98890] +subset: gard_rare {source="GARD:18720"} subset: ordo_morphological_anomaly {source="Orphanet:1398"} synonym: "cerebellar hypoplasia" RELATED [OMIM:213000] synonym: "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" EXACT [OMIM:213000, OMIM:genemap2] @@ -167433,6 +169528,7 @@ synonym: "isolated cerebellar agenesis" RELATED [Orphanet:1398] synonym: "near total absence of cerebellum" EXACT [Orphanet:1398] synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398] xref: DOID:0070338 {source="MONDO:equivalentTo"} +xref: GARD:18720 {source="Orphanet:1398"} xref: ICD10CM:Q04.3 {source="Orphanet:1398", source="Orphanet:1398/ntbt"} xref: MedDRA:10008033 {source="Orphanet:1398", source="Orphanet:1398/e"} xref: MESH:C562568 {source="MONDO:equivalentTo"} @@ -167461,10 +169557,12 @@ replaced_by: MONDO:0013722 id: MONDO:0008941 name: hepatic fibrosis-renal cysts-intellectual disability syndrome def: "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." [https://orcid.org/0000-0001-5208-3432, Orphanet:2031] +subset: gard_rare {source="GARD:5177"} subset: ordo_malformation_syndrome {source="Orphanet:2031"} synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [OMIM:213010] synonym: "Thompson Baraitser syndrome" EXACT [GARD:0005177] synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031] +xref: GARD:5177 {source="Orphanet:2031"} xref: MESH:C565867 {source="MONDO:equivalentTo"} xref: OMIM:213010 {source="Orphanet:2031/e", source="MONDO:equivalentTo", source="Orphanet:2031"} xref: Orphanet:2031 {source="OMIM:213010", source="MONDO:equivalentTo"} @@ -167491,6 +169589,7 @@ replaced_by: MONDO:0011781 id: MONDO:0008943 name: autosomal recessive spinocerebellar ataxia 2 def: "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." [Orphanet:1170] +subset: gard_rare {source="GARD:1199"} subset: ordo_disease {source="Orphanet:1170"} synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170] synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern] @@ -167506,6 +169605,7 @@ synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:d synonym: "SCAR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213200, Orphanet:1170] synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200] xref: DOID:0080061 {source="MONDO:equivalentTo"} +xref: GARD:1199 {source="Orphanet:1170"} xref: ICD10CM:G11.0 {source="Orphanet:1170", source="Orphanet:1170/attributed", source="Orphanet:1170/ntbt"} xref: MESH:C565865 {source="MONDO:equivalentTo"} xref: OMIM:213200 {source="Orphanet:1170/e", source="MONDO:equivalentTo", source="Orphanet:1170", source="DOID:0080061"} @@ -167600,6 +169700,7 @@ id: MONDO:0008947 name: bilateral striopallidodentate calcinosis def: "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." [Orphanet:1980] comment: Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1 +subset: gard_rare {source="GARD:6406"} subset: ordo_disease {source="Orphanet:1980"} synonym: "basal ganglia calcification" EXACT [MONDO:0000720] synonym: "basal ganglia calcification, idiopathic" RELATED [OMIMPS:213600] @@ -167611,6 +169712,7 @@ synonym: "idiopathic basal ganglia calcification" NARROW [Orphanet:1980] synonym: "PFBC" EXACT ABBREVIATION [Orphanet:1980] synonym: "primary familial brain calcification" EXACT [Orphanet:1980] xref: DOID:0060230 {source="MONDO:equivalentTo"} +xref: GARD:6406 {source="Orphanet:1980"} xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"} xref: ICD10CM:G23.8 {source="Orphanet:1980/ntbt", source="Orphanet:1980", source="Orphanet:1980/inclusion"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -167634,7 +169736,7 @@ property_value: confidence "0.5" xsd:double id: MONDO:0008948 name: cerebrotendinous xanthomatosis def: "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." [Orphanet:909] -subset: gard_rare {source="GARD:0005622"} +subset: gard_rare {source="GARD:5622"} subset: ordo_disease {source="Orphanet:909"} synonym: "cerebral cholesterinosis" RELATED [OMIM:213700] synonym: "cerebrotendinous xanthomatosis" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:213700] @@ -167642,6 +169744,7 @@ synonym: "cholestanol storage disease" EXACT [DOID:4810] synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909] synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909] xref: DOID:4810 {source="MONDO:equivalentTo"} +xref: GARD:5622 {source="Orphanet:909"} xref: ICD10CM:E75.5 {source="Orphanet:909/ntbt", source="Orphanet:909/inclusion", source="Orphanet:909"} xref: MESH:D019294 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810"} @@ -167678,7 +169781,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008950 name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease -subset: gard_rare {source="GARD:0007348"} synonym: "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" EXACT [OMIM:213900] xref: MESH:C536318 {source="MONDO:equivalentTo"} xref: OMIM:213900 {source="MONDO:equivalentTo"} @@ -167730,10 +169832,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008954 name: peroxisome biogenesis disorder 2A (Zellweger) +subset: gard_rare {source="GARD:15149"} synonym: "PBD2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214110] synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:214110] synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [OMIM:214110] xref: DOID:0080477 {source="MONDO:equivalentTo"} +xref: GARD:15149 {source="OMIM:214110"} xref: OMIM:214110 {source="MONDO:equivalentTo"} xref: Orphanet:912 {source="OMIM:214110"} xref: UMLS:C1859228 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -167749,6 +169853,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008955 name: cerebrooculofacioskeletal syndrome 1 def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15150"} synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [MONDO:Lexical, OMIM:214150] synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1, OMIM:214150] synonym: "COFS syndrome" BROAD [OMIM:214150] @@ -167757,6 +169862,7 @@ synonym: "COFS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:214150] synonym: "ERCC6 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Pena-Shokeir syndrome, type 2" RELATED [OMIM:214150] xref: DOID:0080911 {source="MONDO:equivalentTo"} +xref: GARD:15150 {source="OMIM:214150"} xref: NCIT:C173085 {source="MONDO:equivalentTo"} xref: OMIM:214150 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:214150"} @@ -167791,6 +169897,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008958 name: Klippel-Feil syndrome 2, autosomal recessive def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15151"} synonym: "cervical vertebral fusion, autosomal recessive" RELATED [OMIM:214300] synonym: "isolated Klippel-Feil syndrome caused by mutation in MEOX1" EXACT [MONDO:design_pattern] synonym: "Kfs, autosomal recessive" RELATED [OMIM:214300] @@ -167799,6 +169906,7 @@ synonym: "Klippel-FEIL syndrome 2, autosomal recessive" RELATED [OMIM:214300] synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:214300] synonym: "MEOX1 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080590 {source="MONDO:equivalentTo"} +xref: GARD:15151 {source="OMIM:214300"} xref: MESH:C536888 {source="MONDO:equivalentTo"} xref: OMIM:214300 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:214300"} @@ -167810,9 +169918,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008959 name: CHAND syndrome +subset: gard_rare {source="GARD:1233"} synonym: "CHAND syndrome" EXACT [OMIM:214350] synonym: "CHANDS" EXACT ABBREVIATION [OMIM:214350] synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [OMIM:214350] +xref: GARD:1233 {source="Orphanet:1401"} xref: MESH:C538074 {source="MONDO:equivalentTo"} xref: OMIM:214350 {source="MONDO:equivalentTo"} xref: Orphanet:1401 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:obsolete"} @@ -167825,6 +169935,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008960 name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome def: "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." [Orphanet:90103] +subset: gard_rare {source="GARD:16786"} subset: ordo_malformation_syndrome {source="Orphanet:90103"} synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [OMIM:214370] synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" NARROW [Orphanet:90103] @@ -167836,6 +169947,7 @@ synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] +xref: GARD:16786 {source="Orphanet:90103"} xref: ICD10CM:G60.0 {source="Orphanet:90103", source="Orphanet:90103/attributed", source="Orphanet:90103/ntbt"} xref: OMIM:214370 {source="MONDO:equivalentTo", source="Orphanet:90103", source="Orphanet:90103/e"} xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"} @@ -167856,7 +169968,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008961 name: Charcot-Marie-Tooth disease type 4A def: "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." [Orphanet:99948] -subset: gard_rare {source="GARD:0001252"} +subset: gard_rare {source="GARD:1252"} subset: ordo_disease {source="Orphanet:99948"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185] synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252] @@ -167869,6 +169981,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400] synonym: "CMT4A" EXACT ABBREVIATION [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948] synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110185 {source="MONDO:equivalentTo"} +xref: GARD:1252 {source="Orphanet:99948"} xref: ICD10CM:G60.0 {source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/attributed", source="Orphanet:99948/ntbt"} xref: MESH:C535419 {source="MONDO:equivalentTo", source="Orphanet:99948", source="Orphanet:99948/e"} xref: OMIM:214400 {source="MONDO:equivalentTo", source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/e"} @@ -167888,7 +170001,7 @@ id: MONDO:0008962 name: Griscelli syndrome type 1 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." [DOID:0060832, PMID:12452176, PMID:9207796] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0002566"} +subset: gard_rare {source="GARD:2566"} subset: ordo_clinical_subtype {source="Orphanet:79476"} synonym: "Griscelli disease type 1" RELATED [Orphanet:79476] synonym: "Griscelli syndrome type 1" EXACT CLINGEN_PREFERRED [] @@ -167904,6 +170017,7 @@ synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [DOID:0060832, synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [OMIM:214450] synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566] xref: DOID:0060832 {source="MONDO:equivalentTo"} +xref: GARD:2566 {source="Orphanet:79476"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476/attributed", source="Orphanet:79476/ntbt", source="Orphanet:79476"} xref: MESH:C537301 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: OMIM:214450 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} @@ -167924,7 +170038,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2566/griscel id: MONDO:0008963 name: Chediak-Higashi syndrome def: "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." [Orphanet:167] -subset: gard_rare {source="GARD:0006035"} +subset: gard_rare {source="GARD:6035"} subset: ordo_disease {source="Orphanet:167"} synonym: "ChC)diak-Higashi disease" EXACT [Orphanet:167] synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] @@ -167936,6 +170050,7 @@ synonym: "Chédiak-Higashi disease" EXACT [Orphanet:167] synonym: "Chédiak-Higashi syndrome" RELATED [Orphanet:167] synonym: "Chédiak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] xref: DOID:2935 {source="MONDO:equivalentTo"} +xref: GARD:6035 {source="Orphanet:167"} xref: ICD10CM:D72.0 {source="DOID:2935"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:167/ntbt", source="Orphanet:167/inclusion", source="Orphanet:167"} xref: ICD10CM:E70.330 {source="MONDO:equivalentTo", source="DOID:2935"} @@ -167966,6 +170081,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6035/chediak id: MONDO:0008964 name: congenital secretory chloride diarrhea 1 def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10001"} subset: ordo_disease {source="Orphanet:53689"} synonym: "chloride diarrhea, congenital, Finnish type" RELATED [OMIM:214700] synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700] @@ -167988,6 +170104,7 @@ synonym: "secretory diarrhoea caused by mutation in SLC26A3" EXACT OMO:0003005 [ synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SLC26A3 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060296 {source="MONDO:equivalentTo"} +xref: GARD:10001 {source="Orphanet:53689"} xref: ICD10CM:P78.3 {source="Orphanet:53689/attributed", source="Orphanet:53689/ntbt", source="Orphanet:53689"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536210 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"} @@ -168008,7 +170125,7 @@ id: MONDO:0008965 name: CHARGE syndrome def: "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." [Orphanet:138] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) -subset: gard_rare +subset: gard_rare {source="GARD:29"} subset: ordo_malformation_syndrome {source="Orphanet:138"} synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, Orphanet:138] synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [OMIM:214800] @@ -168019,6 +170136,7 @@ synonym: "coloboma, heart malformation, choanal atresia, retardation of Growth a synonym: "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" EXACT [Orphanet:138] synonym: "Hall-Hittner syndrome" EXACT [GARD:0000029, OMIM:214800, Orphanet:138] xref: DOID:0050834 {source="MONDO:equivalentTo"} +xref: GARD:29 {source="Orphanet:138"} xref: ICD10CM:Q87.8 {source="Orphanet:138/attributed", source="Orphanet:138/ntbt", source="Orphanet:138"} xref: ICD10CM:Q89.8 {source="DOID:0050834"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -168047,7 +170165,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008966 name: Aagenaes syndrome def: "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." [Orphanet:1414] -subset: gard_rare {source="GARD:0000370"} +subset: gard_rare {source="GARD:370"} subset: ordo_disease {source="Orphanet:1414"} synonym: "Aagenaes syndrome" EXACT [OMIM:214900, Orphanet:1414] synonym: "Chls" RELATED [OMIM:214900] @@ -168059,6 +170177,7 @@ synonym: "LCS1" RELATED ABBREVIATION [GARD:0000370] synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370] synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900] xref: DOID:6691 {source="MONDO:equivalentTo"} +xref: GARD:370 {source="Orphanet:1414"} xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="Orphanet:1414", source="Orphanet:1414/attributed", source="Orphanet:1414/ntbt"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535330 {source="MONDO:equivalentTo", source="DOID:6691"} @@ -168081,7 +170200,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/370/aagenaes id: MONDO:0008967 name: congenital bile acid synthesis defect 4 def: "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." [Orphanet:79095] -subset: gard_rare {source="GARD:0010046"} +subset: gard_rare {source="GARD:10046"} subset: ordo_disease {source="Orphanet:79095"} synonym: "2-methylacyl-CoA racemase deficiency" EXACT [Orphanet:79095] synonym: "Alpha-methyl-acyl-CoA racemase deficiency" EXACT [Orphanet:79095] @@ -168101,6 +170220,7 @@ synonym: "Trihydroxycoprostanic acid in bile" RELATED [OMIM:214950] synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068] synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046] xref: DOID:0111068 {source="MONDO:equivalentTo"} +xref: GARD:10046 {source="Orphanet:79095"} xref: ICD10CM:K76.8 {source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/attributed", source="Orphanet:79095/ntbt"} xref: MESH:C535444 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} xref: OMIM:214950 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} @@ -168131,7 +170251,6 @@ is_a: MONDO:0003847 {source="MESH:C565856/inferred"} ! hereditary disease [Term] id: MONDO:0008969 name: cholesterol pneumonia -subset: gard_rare {source="GARD:0008500"} synonym: "cholesterol pneumonia" EXACT [OMIM:215030] synonym: "familiaere cholesterin-Pneumonie" RELATED [GARD:0008500] xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -168146,7 +170265,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8500/cholest id: MONDO:0008970 name: chondrodysplasia Blomstrand type def: "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." [Orphanet:50945] -subset: gard_rare {source="GARD:0000914"} +subset: gard_rare {source="GARD:914"} subset: ordo_malformation_syndrome {source="Orphanet:50945"} synonym: "BLC" EXACT ABBREVIATION [Orphanet:50945] synonym: "Blomstrand chondrodysplasia" EXACT [Orphanet:50945] @@ -168158,6 +170277,7 @@ synonym: "Blomstrand's lethal chondrodysplasia" RELATED [GARD:0000914] synonym: "BOCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215045, Orphanet:50945] synonym: "chondrodysplasia, Blomstrand type" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945] xref: DOID:0060387 {source="MONDO:equivalentTo"} +xref: GARD:914 {source="Orphanet:50945"} xref: ICD10CM:Q78.8 {source="Orphanet:50945", source="Orphanet:50945/attributed", source="Orphanet:50945/ntbt"} xref: MESH:C537914 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"} xref: NCIT:C131420 {source="MONDO:equivalentTo"} @@ -168174,7 +170294,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/914/chondrod [Term] id: MONDO:0008971 name: chondrodysplasia calcificans Metaphysealis -subset: gard_rare {source="GARD:0010613"} synonym: "chondrodysplasia calcificans Metaphysealis" EXACT [OMIM:215050] xref: MESH:C565855 {source="MONDO:equivalentTo"} xref: OMIM:215050 {source="MONDO:equivalentTo"} @@ -168188,7 +170307,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10613/chondr id: MONDO:0008972 name: rhizomelic chondrodysplasia punctata type 1 def: "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." [https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1] -subset: gard_rare {source="GARD:0006049"} +subset: gard_rare {source="GARD:6049"} subset: ordo_etiological_subtype {source="Orphanet:309789"} synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100] synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100] @@ -168201,6 +170320,7 @@ synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OMIM:215100] xref: DOID:0110851 {source="MONDO:equivalentTo"} +xref: GARD:6049 {source="Orphanet:309789"} xref: ICD10CM:Q77.3 {source="Orphanet:309789/attributed", source="Orphanet:309789/ntbt", source="DOID:0110851", source="Orphanet:309789"} xref: OMIM:215100 {source="Orphanet:309789/e", source="MONDO:equivalentTo", source="DOID:0110851", source="Orphanet:309789"} xref: Orphanet:177 {source="OMIM:215100"} @@ -168220,9 +170340,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6049/rhizome id: MONDO:0008973 name: chondrodysplasia punctata, Toriello type def: "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." [Orphanet:79347] +subset: gard_rare {source="GARD:16716"} subset: ordo_malformation_syndrome {source="Orphanet:79347"} synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105] synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347] +xref: GARD:16716 {source="Orphanet:79347"} xref: ICD10CM:Q77.3 {source="Orphanet:79347", source="Orphanet:79347/attributed", source="Orphanet:79347/ntbt"} xref: MESH:C565853 {source="MONDO:equivalentTo"} xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="Orphanet:79347/e"} @@ -168236,7 +170358,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0008974 name: Greenberg dysplasia def: "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." [Orphanet:1426] -subset: gard_rare {source="GARD:0008754"} +subset: gard_rare {source="GARD:8754"} subset: ordo_disease {source="Orphanet:1426"} synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" RELATED [GARD:0008754] synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [OMIM:215140] @@ -168253,6 +170375,7 @@ synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [Orphanet:1426 synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140] synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426] xref: DOID:0111588 {source="MONDO:equivalentTo"} +xref: GARD:8754 {source="Orphanet:1426"} xref: ICD10CM:Q77.3 {source="Orphanet:1426", source="Orphanet:1426/attributed", source="Orphanet:1426/ntbt"} xref: MESH:C535858 {source="MONDO:equivalentTo"} xref: MESH:C537299 {source="Orphanet:1426", source="Orphanet:1426/e"} @@ -168274,6 +170397,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8754/greenbe id: MONDO:0008975 name: otospondylomegaepiphyseal dysplasia def: "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." [Orphanet:1427] +subset: gard_rare {source="GARD:4130"} subset: ordo_disease {source="Orphanet:1427"} synonym: "chondrodystrophy with sensorineural deafness" EXACT [DOID:0080026] synonym: "Insley-Astley syndrome" RELATED [GARD:0004130] @@ -168286,6 +170410,7 @@ synonym: "oto-spondylo-mega-epiphyseal dysplasia" RELATED [GARD:0004130] synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840] synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:215150] xref: DOID:0080026 {source="MONDO:equivalentTo"} +xref: GARD:4130 {source="Orphanet:1427"} xref: ICD10CM:Q77.7 {source="Orphanet:1427/attributed", source="Orphanet:1427/ntbt", source="Orphanet:1427"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:184840 {source="MONDO:equivalentTo"} @@ -168314,6 +170439,7 @@ is_a: MONDO:0003847 {source="MESH:C565852/inferred"} ! hereditary disease id: MONDO:0008977 name: chondrosarcoma def: "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." [NCIT:C2946] +subset: gard_rare {source="GARD:6055"} subset: ordo_disease {source="Orphanet:55880"} synonym: "chondrosarcoma" EXACT [MONDO:ambiguous, NCIT:C2946, OMIM:215300] synonym: "chondrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -168323,6 +170449,7 @@ synonym: "chondrosarcoma, somatic mutation" EXACT [OMIM:215300, OMIM:genemap2] synonym: "primary chondrosarcoma of the bone" RELATED [DOID:3371] xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"} xref: EFO:0000333 {source="MONDO:equivalentTo"} +xref: GARD:6055 {source="Orphanet:55880"} xref: HP:0006765 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:55880/ntbt", source="Orphanet:55880"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -168352,6 +170479,7 @@ property_value: IAO:0000589 "chondrosarcoma (disease)" xsd:string id: MONDO:0008978 name: chordoma def: "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." [Orphanet:178] +subset: gard_rare {source="GARD:1303"} subset: ordo_disease {source="Orphanet:178"} synonym: "CHDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215400] synonym: "chordoma" EXACT [MONDO:ambiguous, NCIT:C2947] @@ -168362,6 +170490,7 @@ synonym: "notochordal sarcoma" EXACT [Orphanet:178] synonym: "notochordoma" EXACT [DOID:3302] synonym: "susceptibility to chordoma" RELATED [OMIM:215400] xref: DOID:3302 {source="MONDO:equivalentTo"} +xref: GARD:1303 {source="Orphanet:178"} xref: HP:0010762 {source="MONDO:otherHierarchy"} xref: ICDO:9370/3 {source="NCIT:C2947"} xref: MedDRA:10008747 {source="Orphanet:178/e", source="Orphanet:178"} @@ -168381,10 +170510,11 @@ property_value: IAO:0000589 "chordoma (disease)" xsd:string id: MONDO:0008979 name: chorea, benign familial def: "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." [GARD:0001305] -subset: gard_rare +subset: gard_rare {source="GARD:15152"} synonym: "benign hereditary chorea" RELATED [GARD:0001305] synonym: "chorea familial benign" RELATED [GARD:0001305] synonym: "chorea, benign familial" EXACT [OMIM:215450] +xref: GARD:15152 {source="OMIM:215450"} xref: MESH:C565851 {source="MONDO:equivalentTo"} xref: OMIM:215450 {source="MONDO:equivalentTo"} xref: Orphanet:1429 {source="OMIM:215450", source="GARD:0001305"} @@ -168396,6 +170526,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1305/benign- id: MONDO:0008980 name: ataxia-hypogonadism-choroidal dystrophy syndrome def: "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." [Orphanet:1180] +subset: gard_rare {source="GARD:944"} subset: ordo_disease {source="Orphanet:1180"} synonym: "ataxia - hypogonadism - choroidal dystrophy" RELATED [GARD:0000944] synonym: "BNHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215470] @@ -168405,6 +170536,7 @@ synonym: "Boucher-Neuhäuser syndrome" EXACT [Orphanet:1180] synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" EXACT [GARD:0000944] synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" EXACT [OMIM:215470] xref: DOID:0111265 {source="MONDO:equivalentTo"} +xref: GARD:944 {source="Orphanet:1180"} xref: ICD10CM:G11.8 {source="Orphanet:1180/attributed", source="Orphanet:1180/ntbt", source="Orphanet:1180"} xref: MESH:C565850 {source="MONDO:equivalentTo"} xref: OMIM:215470 {source="Orphanet:1180/e", source="MONDO:equivalentTo", source="Orphanet:1180"} @@ -168420,12 +170552,14 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0008981 name: infantile choroidocerebral calcification syndrome def: "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." [Orphanet:1313] +subset: gard_rare {source="GARD:1313"} subset: ordo_disease {source="Orphanet:1313"} synonym: "choroid plexus calcification and intellectual disability" RELATED [OMIM:215480] synonym: "choroid plexus calcification and mental retardation" RELATED DEPRECATED [OMIM:215480] synonym: "choroid plexus calcification with intellectual disability" RELATED [GARD:0001313] synonym: "choroid plexus calcification with mental retardation" RELATED DEPRECATED [GARD:0001313] synonym: "Choroido-cerebral calcification syndrome with retardation" RELATED [GARD:0001313] +xref: GARD:1313 {source="Orphanet:1313"} xref: ICD10CM:G93.8 {source="Orphanet:1313", source="Orphanet:1313/attributed", source="Orphanet:1313/ntbt"} xref: MESH:C535357 {source="MONDO:equivalentTo"} xref: OMIM:215480 {source="MONDO:equivalentTo", source="Orphanet:1313", source="Orphanet:1313/e"} @@ -168443,6 +170577,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008982 name: central areolar choroidal dystrophy def: "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." [Orphanet:75377] +subset: gard_rare {source="GARD:10049"} subset: ordo_disease {source="Orphanet:75377"} synonym: "areolar atrophy of the macula" EXACT [Orphanet:75377] synonym: "CACD" EXACT ABBREVIATION [Orphanet:75377] @@ -168451,6 +170586,7 @@ synonym: "central areolar choroidal sclerosis" EXACT [Orphanet:75377] synonym: "choroidal dystrophy" EXACT [MONDO:0000013] synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049] synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500] +xref: GARD:10049 {source="Orphanet:75377"} xref: ICD10CM:H31.2 {source="Orphanet:75377", source="Orphanet:75377/ntbt", source="Orphanet:75377/inclusion"} xref: ICD9:363.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C535358 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:directSiblingOf"} @@ -168474,10 +170610,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008984 name: ciliary discoordination due to random ciliary orientation -subset: gard_rare {source="GARD:0001360"} +subset: gard_rare {source="GARD:1360"} synonym: "ciliary discoordination due to random ciliary orientation" EXACT [OMIM:215518] synonym: "ciliary discoordination, due to random ciliary orientation" RELATED [GARD:0001360] synonym: "Rutland ciliary disorientation syndrome" RELATED [OMIM:215518] +xref: GARD:1360 {source="OMIM:215518"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562757 {source="MONDO:equivalentTo"} xref: OMIM:215518 {source="MONDO:equivalentTo"} @@ -168490,9 +170627,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1360/ciliary [Term] id: MONDO:0008985 name: ciliary dyskinesia with transposition of ciliary microtubules -subset: gard_rare +subset: gard_rare {source="GARD:1361"} synonym: "ciliary dyskinesia with transposition of ciliary microtubules" EXACT [OMIM:215520] synonym: "ciliary dyskinesia, due to transposition of ciliary microtubules" RELATED [GARD:0001361] +xref: GARD:1361 {source="OMIM:215520"} xref: MESH:C567137 {source="MONDO:equivalentTo"} xref: OMIM:215520 {source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:215520"} @@ -168519,6 +170657,7 @@ replaced_by: MONDO:0007329 id: MONDO:0008988 name: citrullinemia type I def: "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." [Orphanet:247525] +subset: gard_rare {source="GARD:6114"} subset: ordo_disease {source="Orphanet:247525"} synonym: "argininosuccinate synthase deficiency" EXACT [Orphanet:247525] synonym: "argininosuccinate synthetase deficiency" EXACT [OMIM:215700, Orphanet:247525] @@ -168536,6 +170675,7 @@ synonym: "classic citrullinemia" EXACT [Orphanet:247525] synonym: "CTLN1" EXACT ABBREVIATION [Orphanet:247525] synonym: "CTNL1" RELATED ABBREVIATION [GARD:0006114] xref: DOID:0070340 {source="MONDO:equivalentTo"} +xref: GARD:6114 {source="Orphanet:247525"} xref: ICD10CM:E72.2 {source="Orphanet:247525/attributed", source="Orphanet:247525/ntbt", source="Orphanet:247525"} xref: MedDRA:10058298 {source="Orphanet:247525", source="Orphanet:247525/e"} xref: NCIT:C150601 {source="MONDO:equivalentTo"} @@ -168554,7 +170694,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008989 name: citrulline transport defect -subset: gard_rare {source="GARD:0009949"} synonym: "citrulline transport defect" EXACT [OMIM:215720] xref: MESH:C536207 {source="MONDO:equivalentTo"} xref: OMIM:215720 {source="MONDO:equivalentTo"} @@ -168565,7 +170704,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9949/citrull [Term] id: MONDO:0008990 name: cleft larynx, posterior -subset: gard_rare synonym: "cleft larynx, posterior" EXACT [GARD:0004015, OMIM:215800] synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" RELATED [GARD:0004015] synonym: "Novak syndrome" RELATED [GARD:0004015] @@ -168582,7 +170720,7 @@ is_a: MONDO:0016060 {source="Orphanet:2004/btnt"} ! laryngotracheoesophageal cle id: MONDO:0008991 name: Verloove Vanhorick-Brubakk syndrome def: "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." [Orphanet:3429] -subset: gard_rare {source="GARD:0005482"} +subset: gard_rare {source="GARD:5482"} subset: ordo_malformation_syndrome {source="Orphanet:3429"} synonym: "cleft limb heart malformation syndrome" RELATED [GARD:0005482] synonym: "cleft lip-limb and heart malformations syndrome" EXACT [Orphanet:3429] @@ -168590,6 +170728,7 @@ synonym: "cleft-limb-heart malformation syndrome" RELATED [OMIM:215850] synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429] synonym: "Clh syndrome" RELATED [OMIM:215850] synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482] +xref: GARD:5482 {source="Orphanet:3429"} xref: ICD10CM:Q87.8 {source="Orphanet:3429/attributed", source="Orphanet:3429/ntbt", source="Orphanet:3429"} xref: MESH:C536541 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} xref: OMIM:215850 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} @@ -168604,13 +170743,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5482/verloov id: MONDO:0008992 name: Juberg-Hayward syndrome def: "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." [Orphanet:2319] -subset: gard_rare {source="GARD:0003060"} +subset: gard_rare {source="GARD:3060"} subset: ordo_malformation_syndrome {source="Orphanet:2319"} synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [OMIM:216100] synonym: "cleft lip/palate-abnormal thumbs-microcephaly syndrome" EXACT [Orphanet:2319] synonym: "JHS" RELATED ABBREVIATION [GARD:0003060] synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100] synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319] +xref: GARD:3060 {source="Orphanet:2319"} xref: ICD10CM:Q87.0 {source="Orphanet:2319", source="Orphanet:2319/attributed", source="Orphanet:2319/ntbt"} xref: MESH:C537690 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} xref: OMIM:216100 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} @@ -168625,10 +170765,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3060/juberg- id: MONDO:0008993 name: cleft palate-stapes fixation-oligodontia syndrome def: "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." [Orphanet:2010] -subset: gard_rare +subset: gard_rare {source="GARD:1393"} subset: ordo_malformation_syndrome {source="Orphanet:2010"} synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393] synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300] +xref: GARD:1393 {source="Orphanet:2010"} xref: ICD10CM:Q87.8 {source="Orphanet:2010/attributed", source="Orphanet:2010/ntbt", source="Orphanet:2010"} xref: MESH:C565844 {source="MONDO:equivalentTo"} xref: OMIM:216300 {source="Orphanet:2010/e", source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010"} @@ -168642,10 +170783,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1393/cleft-p [Term] id: MONDO:0008994 name: cleidocranial dysplasia, recessive form -subset: gard_rare {source="GARD:0010623"} +subset: gard_rare {source="GARD:10623"} synonym: "autosomal recessive form of cleidocranial dysostosis" RELATED [GARD:0010623] synonym: "cleidocranial dysplasia recessive form" RELATED [GARD:0010623] synonym: "cleidocranial dysplasia, recessive form" EXACT [OMIM:216330] +xref: GARD:10623 {source="OMIM:216330"} xref: MESH:C565843 {source="MONDO:equivalentTo"} xref: OMIM:216330 {source="MONDO:equivalentTo"} xref: Orphanet:1452 {source="OMIM:216330"} @@ -168659,7 +170801,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10623/cleido id: MONDO:0008995 name: Yunis-Varon syndrome def: "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome] -subset: gard_rare {source="GARD:0000331"} +subset: gard_rare {source="GARD:331"} subset: ordo_malformation_syndrome {source="Orphanet:3472"} synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [OMIM:216340] synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589] @@ -168670,6 +170812,7 @@ synonym: "Yunis-Varon syndrome" EXACT [MONDO:Lexical, OMIM:216340] synonym: "Yunis-Varón syndrome" RELATED [GARD:0000331] synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216340] xref: DOID:0060589 {source="MONDO:equivalentTo"} +xref: GARD:331 {source="Orphanet:3472"} xref: ICD10CM:Q87.8 {source="DOID:0060589", source="Orphanet:3472/attributed", source="Orphanet:3472/ntbt", source="Orphanet:3472"} xref: MESH:C536719 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} xref: OMIM:216340 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} @@ -168708,11 +170851,13 @@ id: MONDO:0008998 name: Cockayne syndrome type 3 def: "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." [http://www.diseaseinfosearch.org/Cockayne+Syndrome+Type+III/1704] comment: Editor note: this is obsolete in OMIM but is still a valid class in Orphanet. No info in GHR +subset: gard_rare {source="GARD:1417"} subset: ordo_clinical_subtype {source="Orphanet:90324"} synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417] synonym: "Cockayne syndrome type C" RELATED [GARD:0001417] synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324] synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411] +xref: GARD:1417 {source="Orphanet:90324"} xref: ICD10CM:Q87.8 {source="Orphanet:90324/attributed", source="Orphanet:90324/ntbt", source="Orphanet:90324"} xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="Orphanet:90324/btnt", source="GARD:0001417", source="Orphanet:90324"} xref: Orphanet:191 {source="OMIM:216411"} @@ -168727,7 +170872,7 @@ id: MONDO:0008999 name: Cohen syndrome def: "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." [Orphanet:193] subset: clingen -subset: gard_rare {source="GARD:0006126"} +subset: gard_rare {source="GARD:6126"} subset: ordo_malformation_syndrome {source="Orphanet:193"} synonym: "Chs1" RELATED [OMIM:216550] synonym: "Chs1, formerly" RELATED [OMIM:216550] @@ -168738,6 +170883,7 @@ synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafnes synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550] synonym: "pepper syndrome" RELATED [OMIM:216550] xref: DOID:0111590 {source="MONDO:equivalentTo"} +xref: GARD:6126 {source="Orphanet:193"} xref: ICD10CM:Q87.8 {source="Orphanet:193", source="Orphanet:193/attributed", source="Orphanet:193/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049066 {source="Orphanet:193", source="Orphanet:193/e"} @@ -168762,11 +170908,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6126/cohen-s id: MONDO:0009000 name: familial reactive perforating collagenosis def: "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." [Orphanet:79147] -subset: gard_rare {source="GARD:0013331"} +subset: gard_rare {source="GARD:13331"} subset: ordo_disease {source="Orphanet:79147"} synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, OMIM:216700] synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331] synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700] +xref: GARD:13331 {source="Orphanet:79147"} xref: ICD10CM:L87.1 {source="Orphanet:79147/attributed", source="Orphanet:79147/ntbt", source="Orphanet:79147"} xref: MESH:C565687 {source="MONDO:equivalentTo"} xref: OMIM:216700 {source="Orphanet:79147/e", source="MONDO:equivalentTo", source="Orphanet:79147"} @@ -168782,8 +170929,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13331/famili id: MONDO:0009001 name: macular coloboma-cleft palate-hallux valgus syndrome def: "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." [Orphanet:91494] +subset: gard_rare {source="GARD:16802"} subset: ordo_malformation_syndrome {source="Orphanet:91494"} synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800] +xref: GARD:16802 {source="Orphanet:91494"} xref: ICD10CM:Q87.8 {source="Orphanet:91494", source="Orphanet:91494/attributed", source="Orphanet:91494/ntbt"} xref: MESH:C565686 {source="MONDO:equivalentTo"} xref: OMIM:216800 {source="Orphanet:91494", source="MONDO:equivalentTo", source="Orphanet:91494/e"} @@ -168809,7 +170958,7 @@ property_value: confidence "0.045454545454545636" xsd:double id: MONDO:0009003 name: achromatopsia 2 def: "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." [https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2] -subset: gard_rare {source="GARD:0009649"} +subset: gard_rare {source="GARD:9649"} synonym: "ACHM2" EXACT ABBREVIATION [DOID:0110007, MONDO:Lexical, OMIM:216900] synonym: "achromatopsia 2" EXACT [MONDO:Lexical, OMIM:216900] synonym: "achromatopsia caused by mutation in CNGA3" EXACT [MONDO:design_pattern] @@ -168822,6 +170971,7 @@ synonym: "rod monochromacy 2" EXACT [DOID:0110007] synonym: "Rod monochromatism 2" RELATED [OMIM:216900] synonym: "rod monochromatism 2" EXACT [DOID:0110007] xref: DOID:0110007 {source="MONDO:equivalentTo"} +xref: GARD:9649 {source="OMIM:216900"} xref: MESH:C536128 {source="MONDO:equivalentTo"} xref: NCIT:C168757 {source="MONDO:equivalentTo"} xref: OMIM:216900 {source="DOID:0110007", source="MONDO:equivalentTo"} @@ -168848,8 +170998,10 @@ replaced_by: MONDO:0014353 id: MONDO:0009005 name: complement component C1r/C1s deficiency def: "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." [NCIT:C119991] +subset: gard_rare {source="GARD:15155"} synonym: "C1r/C1s deficiency" RELATED [OMIM:216950] synonym: "complement component C1r/C1s deficiency" EXACT [OMIM:216950] +xref: GARD:15155 {source="OMIM:216950"} xref: NCIT:C119991 {source="MONDO:equivalentTo"} xref: OMIM:216950 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="OMIM:216950"} @@ -168864,13 +171016,14 @@ property_value: confidence "1.1504873407530516" xsd:double id: MONDO:0009006 name: complement component 2 deficiency def: "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency] -subset: gard_rare {source="GARD:0001452"} +subset: gard_rare {source="GARD:1452"} synonym: "C2 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C2 deficiency" RELATED [OMIM:217000] synonym: "C2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217000] synonym: "complement component 2 deficiency" EXACT [MONDO:Lexical, OMIM:217000] synonym: "complement deficiency caused by mutation in C2" EXACT [MONDO:design_pattern] xref: DOID:0060295 {source="MONDO:equivalentTo"} +xref: GARD:1452 {source="OMIM:217000"} xref: ICD10CM:D84.1 {source="DOID:0060295"} xref: NCIT:C119992 {source="MONDO:equivalentTo"} xref: OMIM:217000 {source="MONDO:equivalentTo", source="DOID:0060295"} @@ -168889,7 +171042,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1452/complem id: MONDO:0009007 name: Jalili syndrome def: "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." [Orphanet:1873] -subset: gard_rare +subset: gard_rare {source="GARD:1463"} subset: ordo_malformation_syndrome {source="Orphanet:1873"} synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [Orphanet:1873] synonym: "cone-rod dystrophy amelogenesis imperfecta" RELATED [GARD:0001463] @@ -168897,6 +171050,7 @@ synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [OMIM:217080] synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463] synonym: "Jalili syndrome" EXACT CLINGEN_PREFERRED [GARD:0001463, OMIM:217080] xref: DOID:0111404 {source="MONDO:equivalentTo"} +xref: GARD:1463 {source="Orphanet:1873"} xref: ICD10CM:H35.5 {source="Orphanet:1873/attributed", source="Orphanet:1873/ntbt", source="MONDO:relatedTo", source="Orphanet:1873"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -168916,7 +171070,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1463/cone-ro [Term] id: MONDO:0009008 name: heart defect - tongue hamartoma - polysyndactyly syndrome -subset: gard_rare +subset: gard_rare {source="GARD:4166"} subset: ordo_malformation_syndrome {source="Orphanet:1338"} synonym: "CHDTHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217085] synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical, OMIM:217085] @@ -168925,6 +171079,7 @@ synonym: "heart defect, tongue hamartoma and polysyndactyly" RELATED [GARD:00026 synonym: "Orstavik Lindemann Solberg syndrome" RELATED [GARD:0004166] synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338] xref: DOID:0111591 {source="MONDO:equivalentTo"} +xref: GARD:4166 {source="Orphanet:1338"} xref: ICD10CM:Q87.8 {source="Orphanet:1338", source="Orphanet:1338/attributed", source="Orphanet:1338/ntbt"} xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="Orphanet:1338/e"} xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"} @@ -168941,6 +171096,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0009009 name: hypoplasminogenemia def: "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." [Orphanet:722] +subset: gard_rare {source="GARD:4380"} subset: ordo_disease {source="Orphanet:722"} synonym: "Dysplasminogenemia" RELATED [OMIM:217090] synonym: "hypoplasminogenemia" EXACT CLINGEN_PREFERRED [] @@ -168951,6 +171107,7 @@ synonym: "plasminogen deficiency, type 2" RELATED [OMIM:217090] synonym: "plasminogen deficiency, type I" RELATED [OMIM:217090] synonym: "type 1 plasminogen deficiency" RELATED [GARD:0004380] xref: DOID:0111592 {source="MONDO:equivalentTo"} +xref: GARD:4380 {source="Orphanet:722"} xref: ICD10CM:L90.5 {source="Orphanet:722", source="Orphanet:722/attributed", source="Orphanet:722/ntbt"} xref: MESH:C580017 {source="MONDO:equivalentTo"} xref: OMIM:217090 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"} @@ -168969,8 +171126,9 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0009010 name: aortic arch interruption def: "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." [Orphanet:2299] -subset: gard_rare {source="GARD:0000740"} +subset: gard_rare {source="GARD:740"} subset: ordo_morphological_anomaly {source="Orphanet:2299"} +xref: GARD:740 {source="Orphanet:2299"} xref: ICD10CM:Q20.1 {source="DOID:6406"} xref: ICD10CM:Q25.21 {source="MONDO:equivalentTo"} xref: ICD10CM:Q25.4 {source="Orphanet:2299/ntbt", source="Orphanet:2299"} @@ -168998,7 +171156,7 @@ replaced_by: MONDO:0015167 id: MONDO:0009012 name: multiple pterygium-malignant hyperthermia syndrome def: "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." [Orphanet:2215] -subset: gard_rare +subset: gard_rare {source="GARD:3361"} subset: ordo_malformation_syndrome {source="Orphanet:2215"} synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [OMIM:217150] synonym: "froster-Iskenius-Waterson syndrome" RELATED [GARD:0003361] @@ -169006,6 +171164,7 @@ synonym: "froster-Iskenius-Waterson-Hall syndrome" EXACT [Orphanet:2215] synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0003361] synonym: "malignant hyperthermia arthrogryposis torticollis" RELATED [GARD:0003361] synonym: "malignant hyperthermia-arthrogryposis-torticollis syndrome" EXACT [Orphanet:2215] +xref: GARD:3361 {source="Orphanet:2215"} xref: ICD10CM:Q87.8 {source="Orphanet:2215", source="Orphanet:2215/attributed", source="Orphanet:2215/ntbt"} xref: MESH:C565679 {source="MONDO:equivalentTo"} xref: OMIM:217150 {source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361", source="Orphanet:2215/e"} @@ -169030,12 +171189,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009014 name: cornea plana 2 def: "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18050"} synonym: "CNA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217300] synonym: "cornea plana 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:217300] synonym: "cornea plana 2, autosomal recessive" RELATED [OMIM:217300] synonym: "cornea plana caused by mutation in KERA" EXACT [MONDO:design_pattern] synonym: "cornea plana type 2" EXACT [MONDORULE:1, OMIM:217300] synonym: "KERA cornea plana" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18050 {source="OMIM:217300"} xref: MESH:C565677 {source="MONDO:equivalentTo"} xref: OMIM:217300 {source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="OMIM:217300"} @@ -169050,6 +171211,7 @@ property_value: confidence "19.99999999999998" xsd:double id: MONDO:0009015 name: corneal dystrophy-perceptive deafness syndrome def: "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." [Orphanet:1490] +subset: gard_rare {source="GARD:1529"} subset: ordo_malformation_syndrome {source="Orphanet:1490"} synonym: "CDPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217400, Orphanet:1490] synonym: "Cdpd1" RELATED [OMIM:217400] @@ -169060,6 +171222,7 @@ synonym: "corneal dystrophy with progressive deafness" EXACT [Orphanet:1490] synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [OMIM:217400, OMIM:genemap2] synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490] xref: DOID:0111620 {source="MONDO:equivalentTo"} +xref: GARD:1529 {source="Orphanet:1490"} xref: ICD10CM:H18.5 {source="Orphanet:1490/attributed", source="Orphanet:1490/ntbt", source="Orphanet:1490"} xref: MESH:C535473 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} xref: OMIM:217400 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} @@ -169104,12 +171267,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009018 name: central cloudy dystrophy of François def: "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [Orphanet:98972] +subset: gard_rare {source="GARD:16881"} subset: ordo_disease {source="Orphanet:98972"} synonym: "CCDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217600, Orphanet:98972] synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972] synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600] synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972] synonym: "corneal dystrophy, central type" RELATED [OMIM:217600] +xref: GARD:16881 {source="Orphanet:98972"} xref: ICD10CM:H18.5 {source="Orphanet:98972", source="Orphanet:98972/attributed", source="Orphanet:98972/ntbt"} xref: MESH:C563262 {source="MONDO:equivalentTo"} xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="Orphanet:98972/e"} @@ -169123,7 +171288,7 @@ is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy id: MONDO:0009019 name: congenital hereditary endothelial dystrophy of cornea def: "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [https://orcid.org/0000-0001-5208-3432, Orphanet:293603] -subset: gard_rare +subset: gard_rare {source="GARD:6196"} subset: ordo_disease {source="Orphanet:293603"} synonym: "autosomal recessive CHED" EXACT [Orphanet:293603] synonym: "autosomal recessive congenital hereditary endothelial dystrophy" EXACT [Orphanet:293603] @@ -169145,6 +171310,7 @@ synonym: "corneal endothelial dystrophy, autosomal recessive" EXACT [OMIM:217700 synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603] synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [Orphanet:293603] xref: DOID:0060649 {source="MONDO:equivalentTo"} +xref: GARD:6196 {source="Orphanet:293603"} xref: ICD10CM:H18.5 {source="Orphanet:293603/attributed", source="Orphanet:293603/ntbt", source="Orphanet:293603"} xref: MESH:C536439 {source="MONDO:equivalentTo"} xref: OMIM:217700 {source="Orphanet:293603/e", source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603"} @@ -169162,6 +171328,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6196/corneal id: MONDO:0009020 name: macular corneal dystrophy def: "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." [Orphanet:98969] +subset: gard_rare {source="GARD:6953"} subset: ordo_disease {source="Orphanet:98969"} synonym: "corneal dystrophy Groenouw type II" EXACT [Orphanet:98969] synonym: "corneal dystrophy, macular type" RELATED [OMIM:217800] @@ -169179,6 +171346,7 @@ synonym: "MCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217800, Orphanet:98969] synonym: "Mcdc1" RELATED [OMIM:217800] synonym: "Mcdc1, formerly" RELATED [OMIM:217800] xref: DOID:2565 {source="MONDO:equivalentTo"} +xref: GARD:6953 {source="Orphanet:98969"} xref: ICD10CM:H18.5 {source="Orphanet:98969", source="Orphanet:98969/attributed", source="Orphanet:98969/ntbt"} xref: ICD10CM:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"} xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -169202,13 +171370,14 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0009021 name: Toriello-Carey syndrome def: "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." [Orphanet:3338] -subset: gard_rare {source="GARD:0005225"} +subset: gard_rare {source="GARD:5225"} subset: ordo_malformation_syndrome {source="Orphanet:3338"} synonym: "agenesis of corpus callosum with facial anomalies and Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis facial anomalies Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXACT [Orphanet:3338] synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980] synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980] +xref: GARD:5225 {source="Orphanet:3338"} xref: ICD10CM:Q87.8 {source="Orphanet:3338", source="Orphanet:3338/attributed", source="Orphanet:3338/ntbt"} xref: MESH:C563127 {source="MONDO:equivalentTo"} xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="Orphanet:3338/e"} @@ -169249,9 +171418,10 @@ replaced_by: MONDO:0000902 id: MONDO:0009024 name: cortical blindness-intellectual disability-polydactyly syndrome def: "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." [Orphanet:1389] -subset: gard_rare {source="GARD:0001548"} +subset: gard_rare {source="GARD:1548"} subset: ordo_malformation_syndrome {source="Orphanet:1389"} synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010] +xref: GARD:1548 {source="Orphanet:1389"} xref: MESH:C565674 {source="MONDO:equivalentTo"} xref: OMIM:218010 {source="Orphanet:1389", source="MONDO:equivalentTo", source="Orphanet:1389/e"} xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"} @@ -169271,7 +171441,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1548/cortica id: MONDO:0009025 name: apparent mineralocorticoid excess def: "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." [Orphanet:320] -subset: gard_rare {source="GARD:0000433"} +subset: gard_rare {source="GARD:433"} subset: ordo_disease {source="Orphanet:320"} synonym: "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" EXACT [NCIT:C131083] synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:0090121, Orphanet:320] @@ -169289,6 +171459,7 @@ synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320] xref: DOID:0090121 {source="MONDO:equivalentObsolete"} xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"} xref: EFO:1000817 {source="MONDO:equivalentTo"} +xref: GARD:433 {source="Orphanet:320"} xref: ICD10CM:E26.1 {source="DOID:0090121", source="Orphanet:320/attributed", source="Orphanet:320/ntbt", source="Orphanet:320"} xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537422 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:320"} @@ -169319,7 +171490,7 @@ id: MONDO:0009026 name: Costello syndrome def: "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." [Orphanet:3071] subset: clingen -subset: gard_rare {source="GARD:0001550"} +subset: gard_rare {source="GARD:1550"} subset: ordo_malformation_syndrome {source="Orphanet:3071"} synonym: "congenital myopathy with excess of muscle spindles" EXACT [OMIM:218040, OMIM:genemap2] synonym: "Costello syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:218040] @@ -169328,6 +171499,7 @@ synonym: "faciocutaneoskeletal syndrome" EXACT [DOID:0050469, OMIM:218040, Orpha synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071] synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040] xref: DOID:0050469 {source="MONDO:equivalentTo"} +xref: GARD:1550 {source="Orphanet:3071"} xref: ICD10CM:Q87.8 {source="Orphanet:3071", source="Orphanet:3071/attributed", source="Orphanet:3071/ntbt"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067380 {source="Orphanet:3071", source="Orphanet:3071/e"} @@ -169367,10 +171539,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009028 name: Crane-Heise syndrome def: "A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." [https://orcid.org/0000-0001-5208-3432, Orphanet:1512] -subset: gard_rare {source="GARD:0008428"} +subset: gard_rare {source="GARD:8428"} subset: ordo_malformation_syndrome {source="Orphanet:1512"} synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090] synonym: "Crane-Heise syndrome" EXACT [OMIM:218090] +xref: GARD:8428 {source="Orphanet:1512"} xref: ICD10CM:Q87.5 {source="Orphanet:1512", source="Orphanet:1512/attributed", source="Orphanet:1512/ntbt"} xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} @@ -169408,12 +171581,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009031 name: craniodiaphyseal dysplasia def: "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." [Orphanet:1513] -subset: gard_rare {source="GARD:0001567"} +subset: gard_rare {source="GARD:1567", source="GARD:15156"} subset: ordo_malformation_syndrome {source="Orphanet:1513"} synonym: "CDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122860, OMIM:218300] synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300] synonym: "Lionitis" EXACT [NCIT:C131429] xref: DOID:0080032 {source="MONDO:equivalentTo"} +xref: GARD:15156 {source="OMIM:218300"} +xref: GARD:1567 {source="Orphanet:1513"} xref: ICD10CM:M85.2 {source="Orphanet:1513", source="Orphanet:1513/attributed", source="Orphanet:1513/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562940 {source="MONDO:equivalentTo"} @@ -169435,12 +171610,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1567/craniod id: MONDO:0009032 name: cranioectodermal dysplasia def: "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." [Orphanet:1515] +subset: gard_rare {source="GARD:359"} subset: ordo_malformation_syndrome {source="Orphanet:1515"} synonym: "CED" EXACT ABBREVIATION [Orphanet:1515] synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577] synonym: "Levin syndrome" EXACT [DOID:0050577] synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515] xref: DOID:0050577 {source="MONDO:equivalentTo"} +xref: GARD:359 {source="Orphanet:1515"} xref: ICD10CM:Q87.5 {source="Orphanet:1515/attributed", source="Orphanet:1515/ntbt", source="Orphanet:1515"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129305 {source="MONDO:equivalentTo"} @@ -169464,7 +171641,7 @@ property_value: confidence "2.47142857142857" xsd:double id: MONDO:0009033 name: temtamy syndrome def: "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." [Orphanet:1777] -subset: gard_rare {source="GARD:0005688"} +subset: gard_rare {source="GARD:5688"} subset: ordo_malformation_syndrome {source="Orphanet:1777"} synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" RELATED [GARD:0005688] synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [Orphanet:1777] @@ -169476,6 +171653,7 @@ synonym: "temtamy syndrome" EXACT [MONDO:Lexical, OMIM:218340] synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777] synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218340] xref: DOID:0111621 {source="MONDO:equivalentTo"} +xref: GARD:5688 {source="Orphanet:1777"} xref: ICD10CM:Q87.8 {source="Orphanet:1777", source="Orphanet:1777/attributed", source="Orphanet:1777/ntbt"} xref: MESH:C536959 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"} xref: NCIT:C148371 {source="MONDO:equivalentTo"} @@ -169496,12 +171674,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5688/temtamy id: MONDO:0009034 name: craniofacial dyssynostosis def: "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." [Orphanet:1516] -subset: gard_rare {source="GARD:0001575"} +subset: gard_rare {source="GARD:1575"} subset: ordo_malformation_syndrome {source="Orphanet:1516"} synonym: "bilateral lambdoid and sagittal synostosis" RELATED [OMIM:218350] synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575] synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350] synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575] +xref: GARD:1575 {source="Orphanet:1516"} xref: ICD10CM:Q87.0 {source="Orphanet:1516", source="Orphanet:1516/attributed", source="Orphanet:1516/ntbt"} xref: MESH:C536455 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} xref: OMIM:218350 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} @@ -169516,11 +171695,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1575/craniof id: MONDO:0009035 name: craniometaphyseal dysplasia, autosomal recessive def: "Autosomal recessive form of craniometaphyseal dysplasia." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:1582"} synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [MONDO:design_pattern] synonym: "CMDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218400] synonym: "craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:218400] synonym: "craniometaphyseal dysplasia, autosomal recessive type" RELATED [GARD:0001582] xref: DOID:0080802 {source="MONDO:equivalentTo"} +xref: GARD:1582 {source="OMIM:218400"} xref: MESH:C536570 {source="MONDO:equivalentTo"} xref: OMIM:218400 {source="MONDO:equivalentTo"} xref: Orphanet:1522 {source="OMIM:218400"} @@ -169537,6 +171718,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009036 name: cardiocranial syndrome, Pfeiffer type def: "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." [Orphanet:2872] +subset: gard_rare {source="GARD:8586"} subset: ordo_malformation_syndrome {source="Orphanet:2872"} synonym: "Cardiocranial syndrome" RELATED [GARD:0008586] synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [OMIM:218450] @@ -169546,6 +171728,7 @@ synonym: "Pfeiffer Singer Zschiesche syndrome" RELATED [GARD:0008586] synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872] synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586] synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872] +xref: GARD:8586 {source="Orphanet:2872"} xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="Orphanet:2872/attributed", source="Orphanet:2872/ntbt"} xref: MESH:C535578 {source="MONDO:equivalentTo"} xref: OMIM:218450 {source="Orphanet:2872", source="MONDO:equivalentTo", source="Orphanet:2872/e"} @@ -169592,7 +171775,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009039 name: Baller-Gerold syndrome def: "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." [Orphanet:1225] -subset: gard_rare {source="GARD:0001602"} +subset: gard_rare {source="GARD:1602"} subset: ordo_malformation_syndrome {source="Orphanet:1225"} synonym: "BALLER-Gerold syndrome" RELATED [OMIM:218600] synonym: "Baller-Gerold syndrome" EXACT [MONDO:Lexical, OMIM:218600] @@ -169600,6 +171783,7 @@ synonym: "BGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218600] synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600] synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600] xref: DOID:0050654 {source="MONDO:equivalentTo"} +xref: GARD:1602 {source="Orphanet:1225"} xref: ICD10CM:Q75.0 {source="Orphanet:1225", source="Orphanet:1225/attributed", source="Orphanet:1225/ntbt"} xref: MESH:C536788 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} xref: OMIM:218600 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} @@ -169631,7 +171815,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009041 name: craniosynostosis-intellectual disability-clefting syndrome def: "A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose." [https://orcid.org/0000-0001-5208-3432, PMID:7172471] -subset: gard_rare {source="GARD:0001599"} synonym: "Baraitser Rodeck garner syndrome" EXACT [GARD:0000817, MESH:C537906] synonym: "craniosynostosis intellectual disability clefting syndrome" RELATED [GARD:0001599] synonym: "craniosynostosis mental retardation clefting syndrome" RELATED DEPRECATED [GARD:0001599] @@ -169656,10 +171839,11 @@ relationship: excluded_subClassOf MONDO:0016064 {source="MESH:C537906"} ! cleft id: MONDO:0009042 name: craniotelencephalic dysplasia def: "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." [Orphanet:1528] -subset: gard_rare {source="GARD:0001605"} +subset: gard_rare {source="GARD:1605"} subset: ordo_malformation_syndrome {source="Orphanet:1528"} synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605] synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670] +xref: GARD:1605 {source="Orphanet:1528"} xref: ICD10CM:Q04.3 {source="Orphanet:1528/attributed", source="Orphanet:1528/ntbt", source="Orphanet:1528"} xref: MESH:C535597 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: OMIM:218670 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} @@ -169693,6 +171877,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare id: MONDO:0009044 name: Crigler-Najjar syndrome def: "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." [Orphanet:205] +subset: gard_rare {source="GARD:16526"} subset: ordo_disease {source="Orphanet:205"} synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803] synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [Orphanet:205] @@ -169703,6 +171888,7 @@ synonym: "Crigler-Najjar syndrome, type I" RELATED EXCLUDE [DOID:3803] synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205] synonym: "UGT deficiency" EXACT [Orphanet:205] xref: DOID:3803 {source="MONDO:equivalentTo"} +xref: GARD:16526 {source="Orphanet:205"} xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"} xref: MedDRA:10011386 {source="Orphanet:205", source="Orphanet:205/e"} xref: MESH:D003414 {source="Orphanet:205", source="MONDO:equivalentTo", source="Orphanet:205/e", source="DOID:3803"} @@ -169723,9 +171909,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare id: MONDO:0009045 name: cataract-nephropathy-encephalopathy syndrome def: "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." [Orphanet:1380] +subset: gard_rare {source="GARD:1614"} subset: ordo_malformation_syndrome {source="Orphanet:1380"} synonym: "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" RELATED [GARD:0001614] synonym: "crome syndrome" EXACT [OMIM:218900, Orphanet:1380] +xref: GARD:1614 {source="Orphanet:1380"} xref: ICD10CM:Q87.8 {source="Orphanet:1380/attributed", source="Orphanet:1380/ntbt", source="Orphanet:1380"} xref: MESH:C536216 {source="MONDO:equivalentTo"} xref: OMIM:218900 {source="Orphanet:1380/e", source="MONDO:equivalentTo", source="Orphanet:1380"} @@ -169742,7 +171930,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009046 name: Fraser syndrome def: "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." [Orphanet:2052] -subset: gard_rare {source="GARD:0006465"} +subset: gard_rare {source="GARD:6465"} subset: ordo_malformation_syndrome {source="Orphanet:2052"} subset: prototype_pattern synonym: "cryptophthalmos syndrome" RELATED [GARD:0006465] @@ -169755,6 +171943,7 @@ synonym: "Fraser-Francois syndrome" RELATED [GARD:0006465] synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465] synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465] xref: DOID:0090001 {source="MONDO:equivalentTo"} +xref: GARD:6465 {source="Orphanet:2052"} xref: ICD10CM:Q87.0 {source="DOID:0090001", source="Orphanet:2052/attributed", source="Orphanet:2052/ntbt", source="Orphanet:2052"} xref: MESH:D058497 {source="Orphanet:2052/e", source="MONDO:equivalentTo", source="Orphanet:2052"} xref: NCIT:C118436 {source="MONDO:equivalentTo"} @@ -169819,7 +172008,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009049 name: Cushing syndrome due to macronodular adrenal hyperplasia def: "A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." [https://orcid.org/0000-0001-5208-3432, Orphanet:189427] -subset: gard_rare +subset: gard_rare {source="GARD:10824"} subset: ordo_disease {source="Orphanet:189427"} subset: prototype_pattern synonym: "ACTH-independent Cushing syndrome" BROAD [MESH:C565662] @@ -169832,6 +172021,7 @@ synonym: "MMAD" RELATED ABBREVIATION [GARD:0010824] synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [Orphanet:189427] synonym: "primary macronodular adrenal hyperplasia" RELATED [GARD:0010824] xref: DOID:0111622 {source="MONDO:equivalentTo"} +xref: GARD:10824 {source="Orphanet:189427"} xref: ICD10CM:E24.8 {source="Orphanet:189427", source="Orphanet:189427/attributed", source="Orphanet:189427/ntbt"} xref: MESH:C565662 {source="MONDO:equivalentTo"} xref: Orphanet:189427 {source="OMIM:219080", source="MONDO:equivalentTo", source="GARD:0010824"} @@ -169849,7 +172039,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10824/acth-i id: MONDO:0009050 name: Cushing disease due to pituitary adenoma def: "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." [] -subset: gard_rare {source="GARD:0012867"} +subset: gard_rare {source="GARD:12867"} subset: ordo_disease {source="Orphanet:96253"} synonym: "ACTH producing pituitary adenoma" EXACT [NCIT:C113210] synonym: "ACTH-producing pituitary adenoma" RELATED EXCLUDE [DOID:7004] @@ -169868,6 +172058,7 @@ synonym: "pituitary corticotroph micro-adenoma" EXACT [Orphanet:96253] synonym: "pituitary dependent Cushing syndrome" EXACT [GARD:0012867] synonym: "pituitary-dependent Cushing syndrome" EXACT [Orphanet:96253] xref: DOID:7004 {source="MONDO:equivalentTo"} +xref: GARD:12867 {source="Orphanet:96253"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:96253/ntbt", source="Orphanet:96253"} xref: ICD10CM:E24.0 {source="MONDO:relatedTo", source="Orphanet:96253/e", source="Orphanet:96253"} xref: MedDRA:10035109 {source="Orphanet:96253/e", source="Orphanet:96253"} @@ -169893,9 +172084,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12867/acth-s id: MONDO:0009051 name: cutaneous photosensitivity-lethal colitis syndrome def: "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991." [Orphanet:2881] +subset: gard_rare {source="GARD:1633"} subset: ordo_disease {source="Orphanet:2881"} synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [OMIM:219095] synonym: "early cutaneous photosensitivity and severe colitis" RELATED [GARD:0001633] +xref: GARD:1633 {source="Orphanet:2881"} xref: ICD10CM:L57.8 {source="Orphanet:2881", source="Orphanet:2881/ntbt"} xref: MESH:C536224 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"} xref: OMIM:219095 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"} @@ -169909,12 +172102,14 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0009052 name: cutis laxa, autosomal recessive, type 1A def: "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." [DOID:0070135] +subset: gard_rare {source="GARD:15157"} synonym: "ARCL1" BROAD ABBREVIATION [OMIM:219100] synonym: "ARCL1A" EXACT ABBREVIATION [DOID:0070135, MONDO:Lexical, OMIM:219100] synonym: "autosomal recessive cutis laxa type IA" RELATED [DOID:0070135] synonym: "cutis laxa, autosomal recessive" RELATED [OMIM:219100] synonym: "cutis laxa, autosomal recessive, type IA" RELATED [MONDO:Lexical, OMIM:219100] xref: DOID:0070135 {source="MONDO:equivalentTo"} +xref: GARD:15157 {source="OMIM:219100"} xref: ICD10CM:Q82.8 {source="DOID:0070135"} xref: MESH:C562628 {source="MONDO:equivalentTo"} xref: OMIM:219100 {source="DOID:0070135", source="MONDO:equivalentTo"} @@ -169934,6 +172129,7 @@ property_value: confidence "63.33333333333324" xsd:double id: MONDO:0009053 name: ALDH18A1-related de Barsy syndrome def: "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." [Orphanet:35664] +subset: gard_rare {source="GARD:16638"} subset: ordo_etiological_subtype {source="Orphanet:35664"} synonym: "ARCL3A" EXACT ABBREVIATION [DOID:0070132, MONDO:Lexical, OMIM:219150] synonym: "autosomal recessive cutis laxa type IIIA" RELATED [DOID:0070132] @@ -169948,6 +172144,7 @@ synonym: "neurocutaneous syndrome, Bicknell type" EXACT [Orphanet:35664] synonym: "P5CS deficiency" BROAD [Orphanet:35664] synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150] xref: DOID:0070132 {source="MONDO:equivalentTo"} +xref: GARD:16638 {source="Orphanet:35664"} xref: ICD10CM:Q82.8 {source="DOID:0070132"} xref: ICD10CM:Q87.8 {source="Orphanet:35664/attributed", source="Orphanet:35664/ntbt", source="Orphanet:35664"} xref: ICD9:371.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -169965,6 +172162,7 @@ property_value: confidence "8.333333333333332" xsd:double [Term] id: MONDO:0009054 name: autosomal recessive cutis laxa type 2, classic type +subset: gard_rare {source="GARD:17546"} subset: ordo_clinical_subtype {source="Orphanet:357074"} synonym: "ADCL2" RELATED ABBREVIATION [DOID:0070136] synonym: "Arcl2" RELATED [OMIM:219200] @@ -169977,6 +172175,7 @@ synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:35 synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141] xref: DOID:0070136 {source="MONDO:relatedTo"} xref: DOID:0070141 {source="MONDO:equivalentTo"} +xref: GARD:17546 {source="Orphanet:357074"} xref: ICD10CM:Q82.8 {source="DOID:0070141", source="DOID:0070136", source="Orphanet:357074/attributed", source="Orphanet:357074/ntbt", source="Orphanet:357074"} xref: MESH:C562632 {source="MONDO:equivalentTo"} xref: Orphanet:357058 {source="OMIM:219200"} @@ -169992,12 +172191,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009055 name: cutis marmorata telangiectatica congenita def: "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin." [Orphanet:1556] +subset: gard_rare {source="GARD:6228"} subset: ordo_malformation_syndrome {source="Orphanet:1556"} synonym: "CMTC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219250, Orphanet:1556] synonym: "cutis marmorata telangiectatica congenita" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:219250] synonym: "cutis marmorata telangiectatica congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hereditary cutis marmorata telangiectatica congenita" RELATED [GARD:0006228] synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228] +xref: GARD:6228 {source="Orphanet:1556"} xref: HP:0025107 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.8 {source="Orphanet:1556", source="Orphanet:1556/ntbt"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -170036,6 +172237,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009058 name: cystathioninuria def: "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." [Orphanet:212] +subset: gard_rare {source="GARD:2428"} subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:212"} synonym: "cystathionase deficiency" EXACT [DOID:0090142, OMIM:219500, Orphanet:212] @@ -170045,6 +172247,7 @@ synonym: "cystathioninuria" EXACT CLINGEN_PREFERRED [MONDO:ambiguous, OMIM:21950 synonym: "cystathioninuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, Orphanet:212] xref: DOID:0090142 {source="MONDO:equivalentTo"} +xref: GARD:2428 {source="Orphanet:212"} xref: HP:0003153 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.1 {source="DOID:0090142", source="Orphanet:212/ntbt", source="Orphanet:212/inclusion", source="Orphanet:212"} xref: MESH:C535408 {source="DOID:0090142", source="Orphanet:212/e", source="Orphanet:212"} @@ -170083,7 +172286,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009061 name: cystic fibrosis def: "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." [Orphanet:586, Wikipedia:Cystic_fibrosis] -subset: gard_rare {source="GARD:0006233"} +subset: gard_rare {source="GARD:6233"} subset: ordo_disease {source="Orphanet:586"} synonym: "CF" EXACT ABBREVIATION [DOID:1485, MONDO:Lexical, OMIM:219700, Orphanet:586] synonym: "cystic fibrosis" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:219700] @@ -170091,6 +172294,7 @@ synonym: "cystic fibrosis lung disease, modifier of" EXACT [OMIM:219700, OMIM:ge synonym: "mucoviscidosis" EXACT [DOID:1485, OMIM:219700, Orphanet:586] synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" EXACT [OMIM:219700, OMIM:genemap2] xref: DOID:1485 {source="MONDO:equivalentTo"} +xref: GARD:6233 {source="Orphanet:586"} xref: ICD10CM:E84 {source="DOID:1485", source="MONDO:equivalentTo"} xref: ICD10CM:E84.0 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} xref: ICD10CM:E84.1 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} @@ -170125,6 +172329,7 @@ id: MONDO:0009062 name: cystic fibrosis-gastritis-megaloblastic anemia syndrome def: "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." [Orphanet:2575] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:3303"} subset: ordo_disease {source="Orphanet:2575"} synonym: "cystic fibrosis gastritis megaloblastic anaemia" RELATED OMO:0003005 [] synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303] @@ -170133,6 +172338,7 @@ synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anem synonym: "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" RELATED [GARD:0003303] synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303] synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575] +xref: GARD:3303 {source="Orphanet:2575"} xref: MESH:C537039 {source="MONDO:equivalentTo"} xref: OMIM:219721 {source="Orphanet:2575", source="MONDO:equivalentTo", source="Orphanet:2575/e"} xref: Orphanet:2575 {source="OMIM:219721", source="MONDO:equivalentTo"} @@ -170148,11 +172354,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009063 name: ventriculomegaly-cystic kidney disease +subset: gard_rare {source="GARD:17757"} subset: ordo_disease {source="Orphanet:443988"} synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphanet:443988] synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730] synonym: "VMCKD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219730, Orphanet:443988] xref: DOID:0111625 {source="MONDO:equivalentTo"} +xref: GARD:17757 {source="Orphanet:443988"} xref: OMIM:219730 {source="MONDO:equivalentTo", source="Orphanet:443988", source="Orphanet:443988/e"} xref: Orphanet:443988 {source="MONDO:equivalentTo"} xref: UMLS:C1857423 {source="OMIM:219730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:443988"} @@ -170165,6 +172373,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0009064 name: ocular cystinosis def: "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." [Orphanet:411641] +subset: gard_rare {source="GARD:9756"} subset: ordo_clinical_subtype {source="Orphanet:411641"} synonym: "adult-onset cystinosis" EXACT [Orphanet:411641] synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [OMIM:219750] @@ -170172,6 +172381,7 @@ synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750] synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750] synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641] synonym: "ocular cystinosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:9756 {source="Orphanet:411641"} xref: ICD10CM:E72.0 {source="Orphanet:411641", source="Orphanet:411641/attributed", source="Orphanet:411641/ntbt"} xref: MESH:C535765 {source="MONDO:equivalentTo"} xref: OMIM:219750 {source="Orphanet:411641", source="MONDO:equivalentTo", source="Orphanet:411641/e"} @@ -170198,6 +172408,7 @@ replaced_by: MONDO:0100151 id: MONDO:0009066 name: juvenile nephropathic cystinosis def: "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411634] +subset: gard_rare {source="GARD:17685"} subset: ordo_clinical_subtype {source="Orphanet:411634"} synonym: "cystinosis, intermediate" RELATED [OMIM:219900] synonym: "cystinosis, late-onset juvenile or adolescent nephropathic" EXACT [OMIM:219900, OMIM:genemap2] @@ -170206,6 +172417,7 @@ synonym: "intermediate cystinosis" EXACT [Orphanet:411634] synonym: "juvenile cystinosis" EXACT [Orphanet:411634] synonym: "juvenile nephropathic cystinosis" EXACT CLINGEN_PREFERRED [] xref: EFO:0009049 {source="MONDO:equivalentTo"} +xref: GARD:17685 {source="Orphanet:411634"} xref: ICD10EXP:E72.0+ {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} xref: ICD10EXP:N16.3* {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} xref: MESH:C562683 {source="MONDO:equivalentTo"} @@ -170228,7 +172440,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009067 name: cystinuria def: "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." [Orphanet:214] -subset: gard_rare +subset: gard_rare {source="GARD:6237"} subset: ordo_disease {source="Orphanet:214"} synonym: "CSNU" RELATED ABBREVIATION [GARD:0006237, OMIM:220100] synonym: "cystinuria" EXACT CLINGEN_PREFERRED [MONDO:ambiguous, OMIM:220100] @@ -170247,6 +172459,7 @@ synonym: "cystinuria, type non-I, formerly" RELATED [OMIM:220100] synonym: "cystinuria-lysinuria" RELATED [GARD:0006237] synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214] xref: DOID:9266 {source="MONDO:equivalentTo"} +xref: GARD:6237 {source="Orphanet:214"} xref: HP:0003131 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.0 {source="Orphanet:214", source="Orphanet:214/ntbt", source="Orphanet:214/inclusion"} xref: ICD10CM:E72.01 {source="DOID:9266"} @@ -170277,7 +172490,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6237/cystinu id: MONDO:0009068 name: cytochrome-c oxidase deficiency disease def: "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." [NCIT:P378] -subset: gard_rare +subset: gard_rare {source="GARD:15158", source="GARD:48"} subset: ordo_disease {source="Orphanet:254905"} synonym: "Complex 4 mitochondrial respiratory chain deficiency" RELATED [GARD:0000048] synonym: "Complex IV deficiency" RELATED [GARD:0000048] @@ -170294,6 +172507,8 @@ synonym: "mitochondrial Complex 4 deficiency" RELATED [OMIM:220110] synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, OMIM:220110] synonym: "mitochondrial complex IV deficiency, nuclear type 1" EXACT [OMIM:220110, OMIM:genemap2] xref: DOID:3762 {source="MONDO:equivalentTo"} +xref: GARD:15158 {source="OMIM:220110"} +xref: GARD:48 {source="Orphanet:254905"} xref: ICD10CM:E88.8 {source="Orphanet:254905/attributed", source="Orphanet:254905/ntbt", source="Orphanet:254905"} xref: MESH:D030401 {source="DOID:3762", source="MONDO:equivalentTo"} xref: NCIT:C98910 {source="DOID:3762", source="MONDO:equivalentTo"} @@ -170312,6 +172527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009069 name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type def: "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." [Orphanet:70472] +subset: gard_rare {source="GARD:8370", source="GARD:15159"} subset: ordo_disease {source="Orphanet:70472"} synonym: "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" EXACT CLINGEN_PREFERRED [] synonym: "Cox deficiency, French Canadian type" RELATED [OMIM:220111] @@ -170329,6 +172545,8 @@ synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220111] synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [OMIM:220111, OMIM:genemap2] synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472] xref: DOID:0111180 {source="MONDO:equivalentTo"} +xref: GARD:15159 {source="OMIM:220111"} +xref: GARD:8370 {source="Orphanet:70472"} xref: ICD10CM:G31.8 {source="Orphanet:70472/attributed", source="Orphanet:70472/ntbt", source="Orphanet:70472"} xref: MESH:C537004 {source="MONDO:equivalentTo"} xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="Orphanet:70472/e"} @@ -170347,6 +172565,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009070 name: D-glyceric aciduria def: "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." [Orphanet:941] +subset: gard_rare {source="GARD:234"} subset: ordo_disease {source="Orphanet:941"} synonym: "D-glycerate kinase deficiency" EXACT [Orphanet:941] synonym: "D-glyceric acidemia" EXACT [OMIM:220120, Orphanet:941] @@ -170355,6 +172574,7 @@ synonym: "D-glycericacidemia" RELATED [GARD:0000234] synonym: "glycerate kinase deficiency" RELATED [OMIM:220120] synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234] xref: DOID:0111626 {source="MONDO:equivalentTo"} +xref: GARD:234 {source="Orphanet:941"} xref: ICD10CM:E74.8 {source="Orphanet:941/attributed", source="Orphanet:941/ntbt", source="Orphanet:941"} xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"} xref: NCIT:C128804 {source="MONDO:equivalentTo"} @@ -170375,10 +172595,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009071 name: hereditary renal hypouricemia def: "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." [Orphanet:94088] +subset: gard_rare {source="GARD:9496"} subset: ordo_malformation_syndrome {source="Orphanet:94088"} synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150] synonym: "hypouricemia, renal" RELATED [GARD:0009496] synonym: "renal hypouricemia" RELATED [OMIM:220150] +xref: GARD:9496 {source="Orphanet:94088"} xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537757 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"} @@ -170391,6 +172613,7 @@ is_a: MONDO:0015962 {source="Orphanet:94088"} ! inherited renal tubular disease id: MONDO:0009072 name: Dandy-Walker syndrome def: "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." [Orphanet:217] +subset: gard_rare {source="GARD:6242"} subset: ordo_morphological_anomaly {source="Orphanet:217"} synonym: "atresia of foramina of Magendie and Luschka" EXACT [DOID:2785] synonym: "Dandy-Walker complex" RELATED [GARD:0006242] @@ -170405,6 +172628,7 @@ synonym: "isolated Dandy-Walker malformation" RELATED [Orphanet:217] synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242] xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"} xref: EFO:1000890 {source="MONDO:equivalentTo"} +xref: GARD:6242 {source="Orphanet:217"} xref: ICD10CM:Q03.1 {source="Orphanet:217/inclusion", source="Orphanet:217/ntbt", source="DOID:2785", source="Orphanet:217"} xref: MedDRA:10048411 {source="EFO:1000890"} xref: MESH:D003616 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"} @@ -170425,6 +172649,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009073 name: Ritscher-Schinzel syndrome 1 def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15160"} synonym: "3C syndrome" RELATED [OMIM:220210] synonym: "Craniocerebellocardiac dysplasia" RELATED [OMIM:220210] synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [OMIM:220210] @@ -170436,6 +172661,7 @@ synonym: "RTSC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220210] synonym: "RTSC1" RELATED ABBREVIATION [OMIM:220210] synonym: "WASHC5 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060571 {source="MONDO:equivalentTo"} +xref: GARD:15160 {source="OMIM:220210"} xref: OMIM:220210 {source="DOID:0060571", source="MONDO:equivalentTo"} xref: Orphanet:7 {source="DOID:0060571", source="OMIM:220210"} xref: UMLS:C0796137 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:220210"} @@ -170449,9 +172675,11 @@ property_value: confidence "2.8181818181818166" xsd:double id: MONDO:0009074 name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome def: "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." [Orphanet:1970] +subset: gard_rare {source="GARD:2222"} subset: ordo_malformation_syndrome {source="Orphanet:1970"} synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219] synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [OMIM:220219] +xref: GARD:2222 {source="Orphanet:1970"} xref: ICD10CM:Q87.8 {source="Orphanet:1970", source="Orphanet:1970/attributed", source="Orphanet:1970/ntbt"} xref: MESH:C535985 {source="MONDO:equivalentTo"} xref: OMIM:220219 {source="Orphanet:1970", source="MONDO:equivalentTo", source="Orphanet:1970/e"} @@ -170469,10 +172697,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009075 name: Dandy-Walker malformation-postaxial polydactyly syndrome def: "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." [Orphanet:1566] +subset: gard_rare {source="GARD:1669"} subset: ordo_malformation_syndrome {source="Orphanet:1566"} synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:220220] synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566] synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566] +xref: GARD:1669 {source="Orphanet:1566"} xref: ICD10CM:Q87.8 {source="Orphanet:1566", source="Orphanet:1566/attributed", source="Orphanet:1566/ntbt"} xref: MESH:C535771 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} xref: OMIM:220220 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} @@ -170487,7 +172717,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009076 name: autosomal recessive nonsyndromic hearing loss 1A def: "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." [NCIT:C129022] -subset: gard_rare +subset: gard_rare {source="GARD:1697"} synonym: "autosomal recessive deafness 1A" NARROW [DOID:0110475] synonym: "autosomal recessive nonsyndromic deafness 1A" NARROW CLINGEN_PREFERRED [OMIM:220290] synonym: "autosomal recessive nonsyndromic deafness type 1A" NARROW [DOID:0110475, MONDORULE:4] @@ -170504,6 +172734,7 @@ synonym: "DFNB1" NARROW ABBREVIATION [GARD:0001697] synonym: "DFNB1A" NARROW ABBREVIATION [DOID:0110475, MONDO:Lexical, OMIM:220290] synonym: "GJB2-related deafness" NARROW [GARD:0001697] xref: DOID:0110475 {source="MONDO:equivalentTo"} +xref: GARD:1697 {source="OMIM:220290"} xref: ICD10CM:H90.3 {source="DOID:0110475"} xref: MESH:C567134 {source="MONDO:equivalentTo"} xref: NCIT:C129022 {source="MONDO:equivalentTo"} @@ -170540,7 +172771,7 @@ replaced_by: MONDO:0002441 id: MONDO:0009079 name: DOORS syndrome def: "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." [Orphanet:79500, PMID:24291220, PMID:24729539, PMID:24729547, PMID:25557349, PMID:25769375, PMID:26371875] -subset: gard_rare +subset: gard_rare {source="GARD:1685"} subset: ordo_malformation_syndrome {source="Orphanet:79500"} synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [Orphanet:79500] synonym: "brachydactyly due to absence of distal phalanges" RELATED [OMIM:220500] @@ -170558,6 +172789,7 @@ synonym: "DOORS syndrome" EXACT CLINGEN_PREFERRED [GARD:0001685] synonym: "drc syndrome" RELATED [OMIM:220500] synonym: "Eronen syndrome" RELATED [OMIM:220500] xref: DOID:0111627 {source="MONDO:equivalentTo"} +xref: GARD:1685 {source="Orphanet:79500"} xref: ICD10CM:Q87.8 {source="Orphanet:79500/attributed", source="Orphanet:79500/ntbt", source="Orphanet:79500"} xref: MESH:C563052 {source="MONDO:equivalentTo"} xref: OMIM:220500 {source="GARD:0001685", source="Orphanet:79500/e", source="MONDO:equivalentTo", source="Orphanet:79500"} @@ -170580,6 +172812,7 @@ id: MONDO:0009080 name: split hand-foot malformation 1 with sensorineural hearing loss def: "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." [Orphanet:71271] comment: DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features +subset: gard_rare {source="GARD:16686"} subset: ordo_malformation_syndrome {source="Orphanet:71271"} synonym: "congenital deafness with split hands and feet" EXACT [DOID:0090024] synonym: "deafness, congenital, with split hands and feet" RELATED [OMIM:220600] @@ -170589,6 +172822,7 @@ synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [OMIM:220600, OMIM:genemap2] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600] xref: DOID:0090024 {source="MONDO:equivalentTo"} +xref: GARD:16686 {source="Orphanet:71271"} xref: ICD10CM:Q87.2 {source="Orphanet:71271/attributed", source="Orphanet:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"} xref: MESH:C565647 {source="MONDO:equivalentTo"} xref: OMIM:220600 {source="Orphanet:71271/e", source="MONDO:equivalentTo", source="DOID:0090024", source="Orphanet:71271"} @@ -170623,12 +172857,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009082 name: high myopia-sensorineural deafness syndrome def: "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." [Orphanet:363396] +subset: gard_rare {source="GARD:12844"} subset: ordo_disease {source="Orphanet:363396"} synonym: "deafness and myopia" RELATED [MONDO:Lexical, OMIM:221200] synonym: "deafness and myopia syndrome" RELATED [GARD:0012844] synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221200] synonym: "high myopia-sensorineural deafness syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0111628 {source="MONDO:equivalentTo"} +xref: GARD:12844 {source="Orphanet:363396"} xref: ICD10CM:H90.5 {source="Orphanet:363396/attributed", source="Orphanet:363396/ntbt", source="Orphanet:363396"} xref: OMIM:221200 {source="Orphanet:363396", source="MONDO:equivalentTo", source="Orphanet:363396/e"} xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"} @@ -170643,6 +172879,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0009083 name: conductive deafness-malformed external ear syndrome +subset: gard_rare {source="GARD:1460"} subset: ordo_malformation_syndrome {source="Orphanet:3216"} synonym: "conductive deafness - malformed external ear" RELATED [GARD:0001460] synonym: "conductive deafness with malformed external ear" RELATED [GARD:0001460] @@ -170652,6 +172889,7 @@ synonym: "deafness, conductive, with malformed external EAR" RELATED [OMIM:22130 synonym: "Ear deformity and conductive hearing loss" RELATED [GARD:0001460] synonym: "familial congenital moderate neural hearing loss" RELATED [GARD:0001460] synonym: "Mengel-Konigsmark syndrome" EXACT [Orphanet:3216] +xref: GARD:1460 {source="Orphanet:3216"} xref: MESH:C565644 {source="MONDO:equivalentTo"} xref: OMIM:221300 {source="MONDO:equivalentTo", source="Orphanet:3216", source="Orphanet:3216/e"} xref: Orphanet:3216 {source="MONDO:equivalentTo", source="OMIM:221300"} @@ -170664,11 +172902,13 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009084 name: conductive deafness-ptosis-skeletal anomalies syndrome def: "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." [Orphanet:3236] +subset: gard_rare {source="GARD:305"} subset: ordo_malformation_syndrome {source="Orphanet:3236"} synonym: "deafness conductive ptosis skeletal anomalies" RELATED [GARD:0000305] synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMIM:221320] synonym: "Jackson Barr syndrome" RELATED [GARD:0000305] synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236] +xref: GARD:305 {source="Orphanet:3236"} xref: MESH:C535993 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} xref: OMIM:221320 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} xref: Orphanet:3236 {source="MONDO:equivalentTo", source="OMIM:221320"} @@ -170682,11 +172922,12 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009085 name: deafness-vitiligo-achalasia syndrome def: "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." [Orphanet:3239] -subset: gard_rare +subset: gard_rare {source="GARD:1705"} subset: ordo_malformation_syndrome {source="Orphanet:3239"} synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705] synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705] synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350] +xref: GARD:1705 {source="Orphanet:3239"} xref: ICD10CM:Q87.8 {source="Orphanet:3239", source="Orphanet:3239/attributed", source="Orphanet:3239/ntbt"} xref: MESH:C565642 {source="MONDO:equivalentTo"} xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="Orphanet:3239/e", source="GARD:0001705"} @@ -170699,11 +172940,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1705/congeni id: MONDO:0009086 name: deafness-small bowel diverticulosis-neuropathy syndrome def: "Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." [Orphanet:3217] +subset: gard_rare {source="GARD:2568"} subset: ordo_disease {source="Orphanet:3217"} synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [OMIM:221400] synonym: "Groll Hirschowitz syndrome" RELATED [GARD:0002568] synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217] synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568] +xref: GARD:2568 {source="Orphanet:3217"} xref: MESH:C537305 {source="MONDO:equivalentTo"} xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="Orphanet:3217/e"} xref: Orphanet:3217 {source="MONDO:equivalentTo", source="OMIM:221400"} @@ -170736,12 +172979,13 @@ relationship: disease_has_major_feature HP:0000365 ! Hearing impairment id: MONDO:0009089 name: deafness-oligodontia syndrome def: "Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." [Orphanet:3230] -subset: gard_rare {source="GARD:0001698"} +subset: gard_rare {source="GARD:1698"} subset: ordo_malformation_syndrome {source="Orphanet:3230"} synonym: "autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" RELATED [GARD:0001698] synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [GARD:0001698] synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698] synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740] +xref: GARD:1698 {source="Orphanet:3230"} xref: MESH:C538049 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} xref: OMIM:221740 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} xref: Orphanet:3230 {source="MONDO:equivalentTo", source="OMIM:221740"} @@ -170754,8 +172998,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1698/deafnes [Term] id: MONDO:0009090 name: hearing loss, sensorineural, autosomal-mitochondrial type +subset: gard_rare {source="GARD:18159"} synonym: "deafness, sensorineural, autosomal-mitochondrial type" NARROW [OMIM:221745] xref: DOID:0111752 {source="MONDO:equivalentTo"} +xref: GARD:18159 {source="OMIM:221745"} xref: MESH:C565637 {source="MONDO:equivalentTo"} xref: OMIM:221745 {source="MONDO:equivalentTo"} xref: Orphanet:90641 {source="OMIM:221745"} @@ -170768,7 +173014,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009091 name: non-acquired combined pituitary hormone deficiency with spine abnormalities def: "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." [Orphanet:231720] -subset: gard_rare +subset: gard_rare {source="GARD:10603"} subset: ordo_malformation_syndrome {source="Orphanet:231720"} synonym: "CPHD3" RELATED ABBREVIATION [GARD:0010603, MONDO:Lexical, OMIM:221750] synonym: "Deafness, sensorineural with pituitary dwarfism" RELATED [GARD:0010603] @@ -170781,6 +173027,7 @@ synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical, OMI synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1, OMIM:221750] synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [OMIM:221750] synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603] +xref: GARD:10603 {source="Orphanet:231720"} xref: MESH:C536710 {source="MONDO:equivalentTo"} xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="GARD:0010603", source="Orphanet:231720/e"} xref: Orphanet:231720 {source="MONDO:equivalentTo", source="OMIM:221750"} @@ -170797,6 +173044,7 @@ property_value: confidence "1.1441176470588243" xsd:double id: MONDO:0009092 name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly def: "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." [Orphanet:2770] +subset: gard_rare {source="GARD:9921"} subset: ordo_malformation_syndrome {source="Orphanet:2770"} synonym: "brain-bone-fat disease" RELATED [OMIM:221770] synonym: "dementia, prefrontal, with bone cysts" RELATED [OMIM:221770] @@ -170810,6 +173058,7 @@ synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephal synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112, OMIM:221770] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [DOID:0090112] xref: DOID:0090112 {source="MONDO:equivalentTo"} +xref: GARD:9921 {source="Orphanet:2770"} xref: ICD10CM:E75.2 {source="Orphanet:2770", source="Orphanet:2770/attributed", source="Orphanet:2770/ntbt", source="DOID:0090112"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536329 {source="Orphanet:2770", source="DOID:0090112", source="Orphanet:2770/e"} @@ -170828,9 +173077,10 @@ property_value: confidence "38.682539682539684" xsd:double id: MONDO:0009093 name: dermatoleukodystrophy def: "Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." [Orphanet:1659] -subset: gard_rare {source="GARD:0001813"} +subset: gard_rare {source="GARD:1813"} subset: ordo_disease {source="Orphanet:1659"} synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790] +xref: GARD:1813 {source="Orphanet:1659"} xref: ICD10CM:E75.2 {source="Orphanet:1659", source="Orphanet:1659/attributed", source="Orphanet:1659/ntbt"} xref: MESH:C538220 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"} xref: OMIM:221790 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"} @@ -170845,6 +173095,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1813/dermato id: MONDO:0009094 name: dermochondrocorneal dystrophy def: "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." [Orphanet:79149] +subset: gard_rare {source="GARD:1815"} subset: ordo_disease {source="Orphanet:79149"} synonym: "DCCD" RELATED ABBREVIATION [GARD:0001815] synonym: "dermochondrocorneal dystrophy" EXACT [OMIM:221800] @@ -170852,6 +173103,7 @@ synonym: "Dermochondrocorneal dystrophy of François" RELATED [GARD:0001815] synonym: "FranC'ois syndrome" EXACT [Orphanet:79149] synonym: "Francois syndrome" RELATED [OMIM:221800] synonym: "François syndrome" EXACT [Orphanet:79149] +xref: GARD:1815 {source="Orphanet:79149"} xref: ICD9:379.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535375 {source="MONDO:equivalentTo"} xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="Orphanet:79149/e"} @@ -170868,12 +173120,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009095 name: dermatoosteolysis, Kirghizian type def: "Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." [Orphanet:1657] -subset: gard_rare {source="GARD:0001814"} +subset: gard_rare {source="GARD:1814"} subset: ordo_malformation_syndrome {source="Orphanet:1657"} synonym: "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" RELATED [GARD:0001814] synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814] synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810] synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810] +xref: GARD:1814 {source="Orphanet:1657"} xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"} @@ -170895,6 +173148,7 @@ replaced_by: MONDO:0800027 id: MONDO:0009097 name: persistent hyperplastic primary vitreous, autosomal recessive def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:18167"} synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern] synonym: "persistent fetal vasculature" RELATED [OMIM:221900] synonym: "persistent foetal vasculature" RELATED OMO:0003005 [] @@ -170902,6 +173156,7 @@ synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [ synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221900] synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900] synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [OMIM:221900] +xref: GARD:18167 {source="OMIM:221900"} xref: OMIM:221900 {source="MONDO:equivalentTo"} xref: Orphanet:300337 {source="MONDO:equivalentObsolete", source="OMIM:221900"} xref: Orphanet:91495 {source="OMIM:221900"} @@ -170915,7 +173170,6 @@ property_value: confidence "6.142857142857143" xsd:double [Term] id: MONDO:0009098 name: dextrocardia with unusual facies and microphthalmia -subset: gard_rare {source="GARD:0000136"} synonym: "Aughton syndrome" RELATED [GARD:0000136] synonym: "dextrocardia with unusual facies and microphthalmia" EXACT [OMIM:221950] synonym: "dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability" RELATED [GARD:0000136] @@ -170930,7 +173184,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/136/dextroca id: MONDO:0009099 name: nephrogenic diabetes insipidus-intracranial calcification syndrome def: "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." [Orphanet:3145] -subset: gard_rare +subset: gard_rare {source="GARD:259"} subset: ordo_disease {source="Orphanet:3145"} synonym: "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification" RELATED [GARD:0000259] synonym: "diabetes insipidus nephrogenic mental retardation and intracerebral calcification" RELATED DEPRECATED [GARD:0000259] @@ -170938,6 +173192,7 @@ synonym: "diabetes insipidus, nephrogenic, with intellectual disability and intr synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED DEPRECATED [OMIM:221995] synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259] synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145] +xref: GARD:259 {source="Orphanet:3145"} xref: OMIM:221995 {source="Orphanet:3145", source="GARD:0000259", source="MONDO:equivalentTo", source="Orphanet:3145/e"} xref: Orphanet:3145 {source="GARD:0000259", source="MONDO:equivalentTo", source="OMIM:221995"} xref: SCTID:716200002 {source="MONDO:equivalentTo"} @@ -171008,9 +173263,11 @@ is_a: MONDO:0003847 {source="MESH:C565630/inferred"} ! hereditary disease [Term] id: MONDO:0009103 name: diaphragmatic hernia 2 +subset: gard_rare {source="GARD:15161"} synonym: "diaphragmatic hernia 2" EXACT [MONDO:Lexical, OMIM:222400] synonym: "DIH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222400] synonym: "hernia, congenital diaphragmatic 2" EXACT [OMIM:222400, OMIM:genemap2] +xref: GARD:15161 {source="OMIM:222400"} xref: MESH:C565629 {source="MONDO:equivalentTo"} xref: OMIM:222400 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:222400"} @@ -171023,7 +173280,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009104 name: Donnai-Barrow syndrome def: "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." [Orphanet:2143] -subset: gard_rare {source="GARD:0001899"} +subset: gard_rare {source="GARD:1899"} subset: ordo_malformation_syndrome {source="Orphanet:2143"} synonym: "DBS/FOAR syndrome" EXACT [DOID:0090144, OMIM:222448, Orphanet:2143] synonym: "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" RELATED [GARD:0001899] @@ -171038,6 +173295,7 @@ synonym: "FOAR syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "Holmes-Schepens syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [DOID:0090144, Orphanet:2143] xref: DOID:0090144 {source="MONDO:equivalentTo"} +xref: GARD:1899 {source="Orphanet:2143"} xref: ICD10CM:Q87.8 {source="Orphanet:2143", source="DOID:0090144", source="Orphanet:2143/attributed", source="Orphanet:2143/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"} @@ -171059,6 +173317,7 @@ id: MONDO:0009105 name: trichohepatoenteric syndrome def: "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." [Orphanet:84064] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:5258"} subset: ordo_disease {source="Orphanet:84064"} synonym: "phenotypic diarrhea" EXACT [Orphanet:84064] synonym: "phenotypic diarrhoea" EXACT OMO:0003005 [] @@ -171073,6 +173332,7 @@ synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470] xref: DOID:0111414 {source="MONDO:equivalentTo"} +xref: GARD:5258 {source="Orphanet:84064"} xref: OMIMPS:222470 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:222470", source="MONDO:equivalentTo"} xref: SCTID:703406006 {source="MONDO:equivalentTo"} @@ -171092,6 +173352,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009106 name: diastematomyelia def: "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." [NCIT:C98913] +subset: gard_rare {source="GARD:1851"} subset: ordo_morphological_anomaly {source="Orphanet:1671"} synonym: "diastematomyelia" EXACT [OMIM:222500] synonym: "Dimyelia" RELATED [GARD:0001851] @@ -171102,6 +173363,7 @@ synonym: "split cord malformation" RELATED [GARD:0001851] synonym: "split cord malformation type 1" EXACT [Orphanet:1671] synonym: "split spinal cord malformation" RELATED [GARD:0001851] synonym: "SSCM" RELATED ABBREVIATION [GARD:0001851] +xref: GARD:1851 {source="Orphanet:1671"} xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="Orphanet:1671/specific"} xref: ICD9:742.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012750 {source="Orphanet:1671", source="Orphanet:1671/e"} @@ -171118,6 +173380,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0009107 name: diastrophic dysplasia def: "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." [Orphanet:628] +subset: gard_rare {source="GARD:6275"} subset: ordo_disease {source="Orphanet:628"} synonym: "DD" RELATED ABBREVIATION [OMIM:222600] synonym: "diastrophic dwarfism" RELATED [Orphanet:628] @@ -171125,6 +173388,7 @@ synonym: "diastrophic dysplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:22 synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMIM:222600] synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600] xref: DOID:14687 {source="MONDO:equivalentTo"} +xref: GARD:6275 {source="Orphanet:628"} xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"} @@ -171148,7 +173412,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009108 name: hyperdibasic aminoaciduria type 1 def: "Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." [Orphanet:1032] -subset: gard_rare subset: ordo_disease {source="Orphanet:1032"} synonym: "dibasic amino aciduria 1" RELATED [OMIM:222690] synonym: "dibasic amino aciduria I" RELATED [OMIM:222690] @@ -171168,7 +173431,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1854/dibasic id: MONDO:0009109 name: lysinuric protein intolerance def: "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." [Orphanet:470] -subset: gard_rare {source="GARD:0003335"} +subset: gard_rare {source="GARD:3335"} subset: ordo_disease {source="Orphanet:470"} synonym: "dibasic amino aciduria 2" RELATED [OMIM:222700] synonym: "dibasic amino aciduria II" EXACT [DOID:0060439] @@ -171180,6 +173443,7 @@ synonym: "LPI" EXACT ABBREVIATION [DOID:0060439, MONDO:Lexical, OMIM:222700, Orp synonym: "lysinuric PROTEIN intolerance" RELATED [OMIM:222700] synonym: "lysinuric protein intolerance" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:222700] xref: DOID:0060439 {source="MONDO:equivalentTo"} +xref: GARD:3335 {source="Orphanet:470"} xref: ICD10CM:E72.0 {source="Orphanet:470", source="Orphanet:470/attributed", source="Orphanet:470/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058300 {source="Orphanet:470", source="Orphanet:470/e"} @@ -171205,7 +173469,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3335/lysinur id: MONDO:0009110 name: dicarboxylic aminoaciduria def: "Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." [Orphanet:2195] -subset: gard_rare {source="GARD:0001855"} +subset: gard_rare {source="GARD:1855"} subset: ordo_disease {source="Orphanet:2195"} synonym: "DCBXA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222730] synonym: "dicarboxylic aminoaciduria" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:222730] @@ -171213,6 +173477,7 @@ synonym: "Dicarboxylicaminoaciduria" RELATED [GARD:0001855] synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730] synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195] xref: DOID:0060650 {source="MONDO:equivalentTo"} +xref: GARD:1855 {source="Orphanet:2195"} xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195/attributed", source="Orphanet:2195/ntbt", source="Orphanet:2195"} xref: MESH:C536171 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: OMIM:222730 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} @@ -171229,6 +173494,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1855/dicarbo id: MONDO:0009111 name: dihydropyrimidinuria def: "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." [Orphanet:38874] +subset: gard_rare {source="GARD:12347"} subset: ordo_disease {source="Orphanet:38874"} synonym: "dihydropyrimidinase deficiency" EXACT [MONDO:Lexical, OMIM:222748, Orphanet:38874] synonym: "dihydropyrimidinuria" EXACT CLINGEN_PREFERRED [OMIM:222748] @@ -171236,6 +173502,7 @@ synonym: "Dph deficiency" RELATED [OMIM:222748] synonym: "Dpys deficiency" RELATED [OMIM:222748] synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222748] xref: DOID:0111629 {source="MONDO:equivalentTo"} +xref: GARD:12347 {source="Orphanet:38874"} xref: ICD10CM:E79.8 {source="Orphanet:38874/attributed", source="Orphanet:38874/ntbt", source="Orphanet:38874"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:222748 {source="Orphanet:38874/e", source="MONDO:equivalentTo", source="Orphanet:38874"} @@ -171251,7 +173518,7 @@ property_value: confidence "3.166666666666667" xsd:double id: MONDO:0009112 name: rhizomelic chondrodysplasia punctata type 2 def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009429"} +subset: gard_rare {source="GARD:9429"} subset: ordo_etiological_subtype {source="Orphanet:309796"} synonym: "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" RELATED [GARD:0009429] synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852] @@ -171268,6 +173535,7 @@ synonym: "rhizomelic chondrodysplasia punctata type 2" EXACT CLINGEN_PREFERRED [ synonym: "rhizomelic chondrodysplasia punctata, type 2" EXACT [MONDO:Lexical, OMIM:222765] synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429] xref: DOID:0110852 {source="MONDO:equivalentTo"} +xref: GARD:9429 {source="Orphanet:309796"} xref: ICD10CM:Q77.3 {source="DOID:0110852", source="Orphanet:309796/attributed", source="Orphanet:309796/ntbt", source="Orphanet:309796"} xref: MESH:C537607 {source="MONDO:equivalentTo"} xref: OMIM:222765 {source="DOID:0110852", source="Orphanet:309796/e", source="MONDO:equivalentTo", source="Orphanet:309796"} @@ -171290,6 +173558,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9429/rhizome id: MONDO:0009113 name: hemolytic anemia due to diphosphoglycerate mutase deficiency def: "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." [NCIT:C131638] +subset: gard_rare {source="GARD:1874"} subset: ordo_disease {source="Orphanet:714"} synonym: "bisphosphoglycerate mutase deficiency" RELATED [OMIM:222800] synonym: "bisphosphoglyceromutase deficiency" RELATED [OMIM:222800] @@ -171299,6 +173568,7 @@ synonym: "diphosphoglycerate phosphatase deficiency" EXACT [NCIT:C131638] synonym: "DPGM deficiency" RELATED [OMIM:222800] synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800, OMIM:genemap2] xref: DOID:0111630 {source="MONDO:equivalentTo"} +xref: GARD:1874 {source="Orphanet:714"} xref: ICD10CM:D55.2 {source="Orphanet:714", source="Orphanet:714/attributed", source="Orphanet:714/ntbt"} xref: NCIT:C131638 {source="MONDO:equivalentTo"} xref: OMIM:222800 {source="MONDO:equivalentTo", source="Orphanet:714", source="Orphanet:714/e"} @@ -171316,7 +173586,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009114 name: congenital sucrase-isomaltase deficiency def: "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose." [https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency] -subset: gard_rare +subset: gard_rare {source="GARD:7710"} subset: ordo_disease {source="Orphanet:35122"} synonym: "congenital sucrase-isomaltase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "congenital sucrase-isomaltose malabsorption" EXACT [Orphanet:35122] @@ -171342,6 +173612,7 @@ synonym: "sucrose isomaltose enzyme deficiency" RELATED [GARD:0006183] synonym: "sucrose-isomaltase malabsorption, congenital" RELATED [GARD:0007710] synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900] xref: DOID:0111633 {source="MONDO:equivalentTo"} +xref: GARD:7710 {source="Orphanet:35122"} xref: ICD10CM:E74.3 {source="Orphanet:35122/inclusion", source="Orphanet:35122", source="Orphanet:35122/ntbt"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066387 {source="Orphanet:35122/e", source="Orphanet:35122"} @@ -171369,13 +173640,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6183/congeni id: MONDO:0009115 name: congenital lactase deficiency def: "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." [Orphanet:53690] -subset: gard_rare {source="GARD:0012311"} +subset: gard_rare {source="GARD:12311"} subset: ordo_disease {source="Orphanet:53690"} synonym: "Alactasia, congenital" RELATED [OMIM:223000] synonym: "congenital lactase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "disaccharide intolerance 2" RELATED [OMIM:223000] synonym: "lactase deficiency, congenital" RELATED [OMIM:223000] xref: DOID:0111646 {source="MONDO:equivalentTo"} +xref: GARD:12311 {source="Orphanet:53690"} xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562600 {source="MONDO:equivalentTo"} @@ -171439,11 +173711,12 @@ id: MONDO:0009120 name: diverticulosis of bowel, hernia, and retinal detachment def: "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." [Orphanet:2464, PMID:13880014, PMID:8976669] comment: The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. -subset: gard_rare +subset: gard_rare {source="GARD:3401"} subset: ordo_malformation_syndrome {source="Orphanet:2464"} synonym: "diverticulosis of bowel, hernia, and retinal detachment" EXACT [OMIM:223330] synonym: "marfanoid syndrome, De Silva type" EXACT [Orphanet:2464] synonym: "Marphanoid syndrome type De Silva" RELATED [GARD:0003401] +xref: GARD:3401 {source="Orphanet:2464"} xref: MESH:C565619 {source="MONDO:equivalentTo"} xref: OMIM:223330 {source="Orphanet:2464", source="MONDO:equivalentTo", source="Orphanet:2464/e"} xref: Orphanet:2464 {source="OMIM:223330", source="MONDO:equivalentTo"} @@ -171458,6 +173731,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009121 name: von Voss-Cherstvoy syndrome def: "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." [Orphanet:3439] +subset: gard_rare {source="GARD:1894"} subset: ordo_malformation_syndrome {source="Orphanet:3439"} synonym: "DK phocomelia syndrome" EXACT [OMIM:223340, Orphanet:3439] synonym: "phocomelia thrombocytopenia encephalocele and urogenital malformations" RELATED [GARD:0001894] @@ -171465,6 +173739,7 @@ synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome" EXACT [Orphanet:3439] synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894] synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340] +xref: GARD:1894 {source="Orphanet:3439"} xref: ICD10CM:Q87.8 {source="Orphanet:3439", source="Orphanet:3439/attributed", source="Orphanet:3439/ntbt"} xref: MESH:C565618 {source="MONDO:equivalentTo"} xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="Orphanet:3439/e"} @@ -171489,7 +173764,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009123 name: orthostatic hypotension 1 def: "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis." [Orphanet:230] -subset: gard_rare {source="GARD:0001903"} +subset: gard_rare {source="GARD:1903"} subset: ordo_disease {source="Orphanet:230"} synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [DOID:0090145] synonym: "dopamine beta hydroxylase deficiency" RELATED [GARD:0001903] @@ -171499,6 +173774,7 @@ synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:2 synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230] synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [OMIM:223360, OMIM:genemap2] xref: DOID:0090145 {source="MONDO:equivalentTo"} +xref: GARD:1903 {source="Orphanet:230"} xref: ICD10CM:G90.8 {source="Orphanet:230", source="Orphanet:230/attributed", source="Orphanet:230/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535600 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} @@ -171518,7 +173794,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1903/dopamin id: MONDO:0009124 name: Dubowitz syndrome def: "A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." [Orphanet:235] -subset: gard_rare {source="GARD:0006290"} +subset: gard_rare {source="GARD:6290"} subset: ordo_malformation_syndrome {source="Orphanet:235"} synonym: "Dubowitz syndrome" EXACT [OMIM:223370] synonym: "Dubowitz's syndrome" EXACT [DOID:14796] @@ -171528,6 +173804,7 @@ synonym: "intrauterine growth retardation, short stature, microcephaly, mild int synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED DEPRECATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 [] xref: DOID:14796 {source="MONDO:equivalentTo"} +xref: GARD:6290 {source="Orphanet:235"} xref: ICD10CM:Q87.1 {source="Orphanet:235", source="Orphanet:235/ntbt", source="Orphanet:235/inclusion", source="DOID:14796"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059589 {source="Orphanet:235", source="Orphanet:235/e", source="DOID:14796"} @@ -171565,7 +173842,7 @@ is_obsolete: true id: MONDO:0009126 name: duodenal atresia def: "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." [Orphanet:1203] -subset: gard_rare +subset: gard_rare {source="GARD:54"} subset: ordo_morphological_anomaly {source="Orphanet:1203"} synonym: "atresia of duodenum" EXACT [NCIT:C101025] synonym: "congenital atresia of duodenum" EXACT [NCIT:C101025] @@ -171574,6 +173851,7 @@ synonym: "duodenal atresia" EXACT [MONDO:ambiguous, OMIM:223400] synonym: "duodenal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "duodenal stenosis" RELATED [GARD:0000054] xref: DOID:0080216 {source="MONDO:equivalentTo"} +xref: GARD:54 {source="Orphanet:1203"} xref: HP:0002247 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q41.0 {source="Orphanet:1203/inclusion", source="Orphanet:1203", source="Orphanet:1203/ntbt"} xref: ICD9:751.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -171593,7 +173871,6 @@ property_value: IAO:0000589 "duodenal atresia (disease)" xsd:string [Term] id: MONDO:0009127 name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone -subset: gard_rare {source="GARD:0003293"} synonym: "dwarfism, low-birth-weight type with unresponsiveness to growth hormone" RELATED [GARD:0003293] synonym: "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" EXACT [OMIM:223500] xref: MESH:C565615 {source="MONDO:equivalentTo"} @@ -171617,7 +173894,6 @@ is_a: MONDO:0003847 {source="MESH:C535809/inferred", source="Orphanet:2650/infer [Term] id: MONDO:0009129 name: dwarfism, proportionate, with hip dislocation -subset: gard_rare {source="GARD:0010606"} synonym: "dwarfism, proportionate with hip dislocation" RELATED [GARD:0010606] synonym: "dwarfism, proportionate, with hip dislocation" EXACT [OMIM:223550] xref: MESH:C565614 {source="MONDO:equivalentTo"} @@ -171630,6 +173906,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10606/dwarfi id: MONDO:0009130 name: Dyggve-Melchior-Clausen disease def: "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." [Orphanet:239] +subset: gard_rare {source="GARD:6295"} subset: ordo_disease {source="Orphanet:239"} synonym: "DMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:223800] synonym: "DMC disease" EXACT [DOID:0111167] @@ -171638,6 +173915,7 @@ synonym: "Dyggve-Melchior-Clausen disease" EXACT [MONDO:Lexical, OMIM:223800] synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844] synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167] xref: DOID:0111167 {source="MONDO:equivalentTo"} +xref: GARD:6295 {source="Orphanet:239"} xref: ICD10CM:Q77.7 {source="Orphanet:239/attributed", source="Orphanet:239/ntbt", source="Orphanet:239"} xref: MESH:C535726 {source="Orphanet:239", source="Orphanet:239/e"} xref: NCIT:C124844 {source="MONDO:equivalentTo"} @@ -171655,6 +173933,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009131 name: Riley-Day syndrome def: "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." [NCIT:C84706] +subset: gard_rare {source="GARD:7581"} subset: ordo_disease {source="Orphanet:1764"} synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, OMIM:223900] synonym: "familial autonomic nervous dysfunction" RELATED [DOID:11589] @@ -171672,6 +173951,7 @@ synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:L synonym: "Riley Day syndrome" RELATED [GARD:0007581] synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764] xref: DOID:11589 {source="MONDO:equivalentTo"} +xref: GARD:7581 {source="Orphanet:1764"} xref: ICD10CM:G90.1 {source="DOID:11589", source="Orphanet:1764", source="Orphanet:1764/specific", source="Orphanet:1764/e"} xref: MedDRA:10039179 {source="Orphanet:1764", source="Orphanet:1764/e"} xref: MESH:D004402 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"} @@ -171699,7 +173979,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 [Term] id: MONDO:0009132 name: dysautonomia-like disorder -subset: gard_rare {source="GARD:0009475"} synonym: "dysautonomia like disorder" RELATED [GARD:0009475] synonym: "dysautonomia-like disorder" EXACT [OMIM:224000] xref: MESH:C535728 {source="MONDO:equivalentTo"} @@ -171712,7 +173991,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9475/dysauto id: MONDO:0009133 name: cerebellar ataxia, intellectual disability, and dysequilibrium def: "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." [Orphanet:1766] -subset: gard_rare {source="GARD:0001998"} +subset: gard_rare {source="GARD:1998"} subset: ordo_disease {source="Orphanet:1766"} subset: prototype_pattern synonym: "CAMRQ" EXACT ABBREVIATION [DOID:0050997] @@ -171728,6 +174007,7 @@ synonym: "dysequilibrium syndrome" EXACT [GARD:0001998] synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EXACT [Orphanet:1766] synonym: "VLDLRCH" RELATED ABBREVIATION [GARD:0001998] xref: DOID:0050997 {source="MONDO:equivalentTo"} +xref: GARD:1998 {source="Orphanet:1766"} xref: ICD10CM:G11.8 {source="Orphanet:1766", source="Orphanet:1766/attributed", source="Orphanet:1766/ntbt"} xref: MedDRA:10013140 {source="Orphanet:1766", source="Orphanet:1766/e"} xref: MESH:C535731 {source="MONDO:equivalentTo", source="Orphanet:1766", source="Orphanet:1766/e"} @@ -171747,6 +174027,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1998/dysequi id: MONDO:0009134 name: congenital dyserythropoietic anemia type 2 def: "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." [Orphanet:98873] +subset: gard_rare {source="GARD:2001"} subset: ordo_disease {source="Orphanet:98873"} synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [OMIM:224100] synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical, OMIM:224100] @@ -171766,6 +174047,7 @@ synonym: "hereditary erythroblastic multinuclearity with a positive acidified-se synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100] synonym: "SEC23B-CDG" EXACT [Orphanet:98873] xref: DOID:0111401 {source="MONDO:equivalentTo"} +xref: GARD:2001 {source="Orphanet:98873"} xref: ICD10CM:D64.4 {source="Orphanet:98873", source="Orphanet:98873/attributed", source="Orphanet:98873/ntbt"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="Orphanet:98873/e"} @@ -171804,7 +174086,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009136 name: dyskeratosis congenita, autosomal recessive 1 def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14." [DOID:0070015] -subset: gard_rare +subset: gard_rare {source="GARD:6300"} subset: prototype_pattern synonym: "autosomal recessive dyskeratosis congenita" RELATED [GARD:0006300] synonym: "autosomal recessive dyskeratosis congenita 1" RELATED [DOID:0070015] @@ -171814,6 +174096,7 @@ synonym: "dyskeratosis congenita autosomal recessive" RELATED [GARD:0006300] synonym: "dyskeratosis congenita, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:224230] synonym: "dyskeratosis congenita, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:224230] xref: DOID:0070015 {source="MONDO:equivalentTo"} +xref: GARD:6300 {source="OMIM:224230"} xref: MESH:C565611 {source="MONDO:equivalentTo"} xref: NCIT:C176925 {source="MONDO:equivalentTo"} xref: OMIM:224230 {source="MONDO:equivalentTo", source="DOID:0070015", source="GARD:0006300"} @@ -171837,9 +174120,10 @@ is_a: MONDO:0003847 {source="MESH:C565610/inferred"} ! hereditary disease id: MONDO:0009138 name: dysosteosclerosis def: "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." [Orphanet:1782] -subset: gard_rare {source="GARD:0002012"} +subset: gard_rare {source="GARD:2012"} subset: ordo_malformation_syndrome {source="Orphanet:1782"} synonym: "dysosteosclerosis" EXACT [OMIM:224300] +xref: GARD:2012 {source="Orphanet:1782"} xref: ICD10CM:Q78.8 {source="Orphanet:1782/attributed", source="Orphanet:1782/ntbt", source="Orphanet:1782"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562973 {source="MONDO:equivalentTo"} @@ -171855,7 +174139,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2012/dysoste [Term] id: MONDO:0009139 name: dyssegmental dysplasia, Rolland-Desbuquois type -subset: gard_rare {source="GARD:0009810"} +subset: gard_rare {source="GARD:9810"} subset: ordo_disease {source="Orphanet:156731"} synonym: "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] @@ -171864,6 +174148,7 @@ synonym: "dyssegmental dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400] +xref: GARD:9810 {source="Orphanet:156731"} xref: ICD10CM:Q77.7 {source="Orphanet:156731/attributed", source="Orphanet:156731/ntbt", source="Orphanet:156731"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537999 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} @@ -171880,7 +174165,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9810/dyssegm id: MONDO:0009140 name: Silverman-Handmaker type dyssegmental dysplasia def: "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." [Orphanet:1865] -subset: gard_rare {source="GARD:0002026"} +subset: gard_rare {source="GARD:2026"} subset: ordo_disease {source="Orphanet:1865"} synonym: "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" RELATED [GARD:0002026] synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] @@ -171890,6 +174175,7 @@ synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026] synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410] xref: DOID:0090032 {source="MONDO:equivalentTo"} +xref: GARD:2026 {source="Orphanet:1865"} xref: ICD10CM:Q77.7 {source="DOID:0090032", source="Orphanet:1865", source="Orphanet:1865/attributed", source="Orphanet:1865/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537998 {source="MONDO:equivalentTo"} @@ -171910,6 +174196,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2026/dyssegm id: MONDO:0009141 name: torsion dystonia 2 def: "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." [Orphanet:99657] +subset: gard_rare {source="GARD:2028"} subset: ordo_disease {source="Orphanet:99657"} synonym: "autosomal recessive torsion dystonia 2" EXACT [NCIT:C123415] synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:224500] @@ -171922,6 +174209,7 @@ synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657] synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028] synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1] xref: DOID:0090038 {source="MONDO:equivalentTo"} +xref: GARD:2028 {source="Orphanet:99657"} xref: ICD10CM:G24.1 {source="Orphanet:99657/attributed", source="Orphanet:99657/ntbt", source="Orphanet:99657", source="DOID:0090038"} xref: MESH:C538006 {source="MONDO:equivalentTo"} xref: NCIT:C123415 {source="MONDO:equivalentTo"} @@ -171948,6 +174236,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009143 name: Meier-Gorlin syndrome 1 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15162"} synonym: "Ear, patella, short stature syndrome" RELATED [OMIM:224690] synonym: "Meier-Gorlin syndrome" RELATED [OMIM:224690] synonym: "Meier-GORLIN syndrome 1" RELATED [OMIM:224690] @@ -171958,6 +174247,7 @@ synonym: "MGORS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224690] synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [OMIM:224690] synonym: "ORC1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080512 {source="MONDO:equivalentTo"} +xref: GARD:15162 {source="OMIM:224690"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:224690 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:224690"} @@ -171976,6 +174266,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009144 name: Ebstein anomaly def: "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." [Orphanet:1880] +subset: gard_rare {source="GARD:6313"} subset: ordo_morphological_anomaly {source="Orphanet:1880"} synonym: "Ebstein anomaly" EXACT [OMIM:224700] synonym: "Ebstein anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -171989,6 +174280,7 @@ synonym: "Ebstein's anomaly of tricuspid valve" EXACT [NCIT:C84681] synonym: "Ebstein's malformation" RELATED [GARD:0006313] xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"} xref: EFO:0007244 {source="MONDO:equivalentTo"} +xref: GARD:6313 {source="Orphanet:1880"} xref: ICD10CM:Q22.5 {source="Orphanet:1880", source="Orphanet:1880/e", source="DOID:14289", source="Orphanet:1880/specific"} xref: ICD9:746.2 {source="DOID:14289"} xref: MedDRA:10014075 {source="Orphanet:1880", source="Orphanet:1880/e"} @@ -172011,6 +174303,7 @@ property_value: IAO:0000589 "Ebstein anomaly (disease)" xsd:string id: MONDO:0009145 name: SchC6pf-Schulz-Passarge syndrome def: "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." [Orphanet:50944] +subset: gard_rare {source="GARD:16649"} subset: ordo_disease {source="Orphanet:50944"} synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750] synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944] @@ -172023,6 +174316,7 @@ synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750] synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944] synonym: "SSPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224750, Orphanet:50944] xref: DOID:0111647 {source="MONDO:equivalentTo"} +xref: GARD:16649 {source="Orphanet:50944"} xref: ICD10CM:Q82.8 {source="Orphanet:50944/attributed", source="Orphanet:50944/ntbt", source="Orphanet:50944"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565607 {source="MONDO:equivalentTo"} @@ -172041,13 +174335,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009146 name: ectodermal dysplasia-sensorineural deafness syndrome def: "Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." [Orphanet:1883] -subset: gard_rare +subset: gard_rare {source="GARD:9723"} subset: ordo_malformation_syndrome {source="Orphanet:1883"} synonym: "congenital ectodermal dysplasia with hearing loss" RELATED [GARD:0009723] synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [OMIM:224800] synonym: "ectodermal dysplasia-sensorineural hearing loss syndrome" EXACT [Orphanet:1883] synonym: "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" RELATED [GARD:0009723] synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757] +xref: GARD:9723 {source="Orphanet:1883"} xref: MESH:C535757 {source="MONDO:equivalentTo"} xref: MESH:C565606 {source="MONDO:equivalentTo"} xref: OMIM:224800 {source="GARD:0009723", source="Orphanet:1883", source="MONDO:equivalentTo", source="Orphanet:1883/e"} @@ -172061,11 +174356,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9723/congeni [Term] id: MONDO:0009147 name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive +subset: gard_rare {source="GARD:15163"} synonym: "ECTD10B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224900] synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:224900] synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:224900] synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:224900] xref: DOID:0111665 {source="MONDO:equivalentTo"} +xref: GARD:15163 {source="OMIM:224900"} xref: OMIM:224900 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="OMIM:224900"} xref: Orphanet:248 {source="OMIM:224900"} @@ -172093,8 +174390,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009149 name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome def: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." [Orphanet:1812] +subset: gard_rare {source="GARD:16578"} subset: ordo_malformation_syndrome {source="Orphanet:1812"} synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040] +xref: GARD:16578 {source="Orphanet:1812"} xref: ICD10CM:Q87.8 {source="Orphanet:1812/attributed", source="Orphanet:1812/ntbt", source="Orphanet:1812"} xref: MESH:C565605 {source="MONDO:equivalentTo"} xref: OMIM:225040 {source="Orphanet:1812/e", source="MONDO:equivalentTo", source="Orphanet:1812"} @@ -172107,7 +174406,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009150 name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome def: "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." [Orphanet:1882] -subset: gard_rare +subset: gard_rare {source="GARD:2049"} subset: ordo_malformation_syndrome {source="Orphanet:1882"} synonym: "another syndrome" EXACT [GARD:0002049, Orphanet:1882] synonym: "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] @@ -172116,6 +174415,7 @@ synonym: "HEDH syndrome" EXACT [GARD:0002049, OMIM:225050, Orphanet:1882] synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] +xref: GARD:2049 {source="Orphanet:1882"} xref: ICD10CM:Q82.4 {source="Orphanet:1882", source="Orphanet:1882/attributed", source="Orphanet:1882/ntbt"} xref: MESH:C565604 {source="MONDO:equivalentTo"} xref: OMIM:225050 {source="Orphanet:1882", source="GARD:0002049", source="MONDO:equivalentTo", source="Orphanet:1882/e"} @@ -172133,7 +174433,7 @@ id: MONDO:0009151 name: cleft lip/palate-ectodermal dysplasia syndrome def: "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." [Orphanet:3253] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:375"} subset: ordo_group_of_disorders {source="Orphanet:320317"} subset: ordo_malformation_syndrome {source="Orphanet:3253"} synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045] @@ -172159,6 +174459,7 @@ synonym: "Zlotogora syndrome" RELATED [GARD:0000375] synonym: "Zlotogora-Ogur syndrome" EXACT [OMIM:225060, Orphanet:3253] synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773, Orphanet:3253] xref: DOID:0060773 {source="MONDO:equivalentTo"} +xref: GARD:375 {source="Orphanet:3253"} xref: MESH:C536726 {source="Orphanet:3253/e", source="Orphanet:3253"} xref: NCIT:C122656 {source="MONDO:equivalentTo"} xref: OMIM:225060 {source="GARD:0001045", source="Orphanet:3253/e", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253"} @@ -172181,6 +174482,7 @@ property_value: confidence "1.7876687750502525" xsd:double id: MONDO:0009152 name: ectopia lentis 2, isolated, autosomal recessive def: "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." [DOID:0111149] +subset: gard_rare {source="GARD:2060"} synonym: "autosomal recessive isolated ectopia lentis" RELATED [GARD:0002060] synonym: "autosomal recessive isolated ectopia lentis 2" RELATED [DOID:0111149] synonym: "ECTOL2" EXACT ABBREVIATION [DOID:0111149, MONDO:Lexical, OMIM:225100] @@ -172188,6 +174490,7 @@ synonym: "ectopia lentis 2, isolated, autosomal recessive" EXACT [MONDO:Lexical, synonym: "ectopia lentis, isolated autosomal recessive" RELATED [GARD:0002060] synonym: "ectopia lentis, isolated, autosomal recessive" EXACT [OMIM:225100, OMIM:genemap2] xref: DOID:0111149 {source="MONDO:equivalentTo"} +xref: GARD:2060 {source="OMIM:225100"} xref: OMIM:225100 {source="DOID:0111149", source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="OMIM:225100"} xref: UMLS:C2673634 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -172200,9 +174503,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009153 name: ectopia lentis et pupillae +subset: gard_rare {source="GARD:15164"} synonym: "ectopia lentis et pupillae" EXACT [OMIM:225200] synonym: "ectopia lentis with ectopia of pupil" RELATED [OMIM:225200] xref: DOID:0111648 {source="MONDO:equivalentTo"} +xref: GARD:15164 {source="OMIM:225200"} xref: MESH:C563268 {source="MONDO:equivalentTo"} xref: OMIM:225200 {source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="OMIM:225200"} @@ -172216,6 +174521,7 @@ property_value: confidence "39.499999999999936" xsd:double id: MONDO:0009154 name: hypothyroidism, congenital, nongoitrous, 5 def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15165"} synonym: "CHNG5" EXACT ABBREVIATION [DOID:0070125, MONDO:Lexical, OMIM:225250] synonym: "congenital nongoitrous hypothryoidism 5" RELATED [DOID:0070125] synonym: "congenital nongoitrous hypothyroidism 5" RELATED [DOID:0070125] @@ -172225,6 +174531,7 @@ synonym: "hypothyroidism, congenital, nongoitrous, 5" EXACT [MONDO:Lexical, OMIM synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1, OMIM:225250] synonym: "NKX2-5 hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070125 {source="MONDO:equivalentTo"} +xref: GARD:15165 {source="OMIM:225250"} xref: ICD10CM:E03.1 {source="DOID:0070125"} xref: MESH:C567123 {source="MONDO:equivalentTo"} xref: OMIM:225250 {source="MONDO:equivalentTo", source="DOID:0070125"} @@ -172245,7 +174552,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009155 name: EEM syndrome def: "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." [Orphanet:1897] -subset: gard_rare {source="GARD:0002078"} +subset: gard_rare {source="GARD:2078"} subset: ordo_malformation_syndrome {source="Orphanet:1897"} synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" RELATED [GARD:0002078] synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical, OMIM:225280] @@ -172253,6 +174560,7 @@ synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [O synonym: "EEM syndrome" EXACT CLINGEN_PREFERRED [OMIM:225280] synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225280] xref: DOID:0111649 {source="MONDO:equivalentTo"} +xref: GARD:2078 {source="Orphanet:1897"} xref: ICD10CM:Q87.8 {source="Orphanet:1897", source="Orphanet:1897/attributed", source="Orphanet:1897/ntbt"} xref: MESH:C536190 {source="MONDO:equivalentTo"} xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="Orphanet:1897/e"} @@ -172272,10 +174580,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2078/eem-syn id: MONDO:0009156 name: ectrodactyly-polydactyly syndrome def: "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:1892] -subset: gard_rare +subset: gard_rare {source="GARD:2068"} subset: ordo_malformation_syndrome {source="Orphanet:1892"} synonym: "ectrodactyly polydactyly" EXACT [MONDO:0023052] synonym: "ectrodactyly-polydactyly" EXACT [OMIM:225290] +xref: GARD:2068 {source="Orphanet:1892"} xref: ICD10CM:Q74.8 {source="Orphanet:1892/attributed", source="Orphanet:1892/ntbt", source="Orphanet:1892"} xref: MESH:C565601 {source="MONDO:equivalentTo"} xref: OMIM:225290 {source="GARD:0002068", source="Orphanet:1892", source="MONDO:equivalentTo", source="Orphanet:1892/e"} @@ -172290,6 +174599,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2068/ectroda id: MONDO:0009157 name: split hand-foot malformation 6 def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15166"} synonym: "ectrodactyly, autosomal recessive" RELATED [OMIM:225300] synonym: "SHFM6" EXACT ABBREVIATION [DOID:0090026, MONDO:Lexical, OMIM:225300] synonym: "split hand-foot malformation caused by mutation in WNT10B" EXACT [MONDO:design_pattern] @@ -172298,6 +174608,7 @@ synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical, OMIM:225300] synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1, OMIM:225300] synonym: "WNT10B split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090026 {source="MONDO:equivalentTo"} +xref: GARD:15166 {source="OMIM:225300"} xref: ICD10CM:Q71.6 {source="DOID:0090026"} xref: MESH:C567616 {source="MONDO:equivalentTo"} xref: OMIM:225300 {source="MONDO:equivalentTo", source="DOID:0090026"} @@ -172342,6 +174653,7 @@ property_value: confidence "4.833333333333333" xsd:double id: MONDO:0009159 name: Ehlers-Danlos syndrome, cardiac valvular type def: "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [Orphanet:230851] +subset: gard_rare {source="GARD:12613"} subset: ordo_disease {source="Orphanet:230851"} synonym: "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" RELATED [MESH:C536200] synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200] @@ -172355,6 +174667,7 @@ synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RE synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200] synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320] xref: DOID:0080730 {source="MONDO:equivalentTo"} +xref: GARD:12613 {source="Orphanet:230851"} xref: ICD10CM:Q79.6 {source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"} xref: MESH:C536200 {source="MONDO:equivalentTo"} xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="Orphanet:230851/e"} @@ -172376,6 +174689,7 @@ replaced_by: MONDO:0016002 id: MONDO:0009161 name: Ehlers-Danlos syndrome, dermatosparaxis type def: "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." [Orphanet:1901] +subset: gard_rare {source="GARD:2089"} subset: ordo_disease {source="Orphanet:1901"} synonym: "dEDS" RELATED [GARD:0002089] synonym: "dermatosparaxis" RELATED [OMIM:225410] @@ -172390,6 +174704,7 @@ synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089] synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT CLINGEN_PREFERRED [OMIM:225410] synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410] xref: DOID:0080733 {source="MONDO:equivalentTo"} +xref: GARD:2089 {source="Orphanet:1901"} xref: ICD10CM:Q79.6 {source="Orphanet:1901", source="Orphanet:1901/attributed", source="Orphanet:1901/ntbt"} xref: MESH:C567527 {source="MONDO:equivalentTo"} xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source="Orphanet:1901"} @@ -172404,7 +174719,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0009162 name: Ellis-van Creveld syndrome def: "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." [Orphanet:289] -subset: gard_rare {source="GARD:0001301"} +subset: gard_rare {source="GARD:1301"} subset: ordo_malformation_syndrome {source="Orphanet:289"} synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM:756.55, OMIM:225500, Orphanet:289] synonym: "Ellis Van Creveld syndrome" RELATED [Orphanet:289] @@ -172414,6 +174729,7 @@ synonym: "EVC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225500] synonym: "mesodermic dysplasia" EXACT [Orphanet:289] synonym: "Mesoectodermal dysplasia" RELATED [OMIM:225500] xref: DOID:12714 {source="MONDO:equivalentTo"} +xref: GARD:1301 {source="Orphanet:289"} xref: ICD10CM:Q77.6 {source="DOID:12714", source="Orphanet:289/ntbt", source="Orphanet:289/inclusion", source="Orphanet:289"} xref: ICD9:756.55 {source="DOID:12714", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008724 {source="Orphanet:289/e", source="Orphanet:289"} @@ -172461,6 +174777,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009165 name: Aicardi-Goutieres syndrome 1 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15167"} synonym: "Ags" RELATED [OMIM:225750] synonym: "AGS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225750] synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, OMIM:225750] @@ -172472,6 +174789,7 @@ synonym: "Cree encephalitis" RELATED [OMIM:225750] synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [OMIM:225750] synonym: "Pseudotoxoplasmosis syndrome" RELATED [OMIM:225750] synonym: "TREX1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15167 {source="OMIM:225750"} xref: NCIT:C165501 {source="MONDO:equivalentTo"} xref: OMIM:225750 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:225750"} @@ -172489,7 +174807,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009166 name: pontocerebellar hypoplasia type 4 def: "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." [Orphanet:166063] -subset: gard_rare {source="GARD:0000343"} +subset: gard_rare {source="GARD:343"} subset: ordo_malformation_syndrome {source="Orphanet:166063"} synonym: "encephalopathy fatal infantile with olivopontocerebellar hypoplasia" RELATED [GARD:0000343] synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [OMIM:225753] @@ -172498,6 +174816,7 @@ synonym: "olivopontocerebellar hypoplasia" EXACT [Orphanet:166063] synonym: "PCH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225753, Orphanet:166063] synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753] xref: DOID:0060273 {source="MONDO:equivalentTo"} +xref: GARD:343 {source="Orphanet:166063"} xref: ICD10CM:Q04.3 {source="Orphanet:166063/attributed", source="Orphanet:166063/ntbt", source="Orphanet:166063"} xref: MESH:C536716 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: OMIM:225753 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} @@ -172513,12 +174832,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/343/pontocer id: MONDO:0009167 name: Bonnemann-Meinecke-Reich syndrome def: "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." [Orphanet:1261] -subset: gard_rare +subset: gard_rare {source="GARD:2113"} subset: ordo_malformation_syndrome {source="Orphanet:1261"} synonym: "Bonnemann Meinecke Reich syndrome" RELATED [GARD:0002113] synonym: "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration" RELATED [GARD:0002113] synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755] synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261] +xref: GARD:2113 {source="Orphanet:1261"} xref: ICD10CM:Q04.8 {source="Orphanet:1261/attributed", source="Orphanet:1261/ntbt", source="Orphanet:1261"} xref: MESH:C565594 {source="MONDO:equivalentTo"} xref: OMIM:225755 {source="GARD:0002113", source="Orphanet:1261/e", source="MONDO:equivalentTo", source="Orphanet:1261"} @@ -172538,6 +174858,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2113/encepha [Term] id: MONDO:0009168 name: Fowler syndrome +subset: gard_rare {source="GARD:17138"} subset: ordo_malformation_syndrome {source="Orphanet:221126"} synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [Orphanet:221126] synonym: "Encephaloclastic proliferative vasculopathy" EXACT [OMIM:225790, Orphanet:221126] @@ -172548,6 +174869,7 @@ synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Orphanet:221126] synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225790] xref: DOID:0111666 {source="MONDO:equivalentTo"} +xref: GARD:17138 {source="Orphanet:221126"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071718 {source="Orphanet:221126", source="Orphanet:221126/e"} xref: MESH:C565593 {source="MONDO:equivalentTo"} @@ -172566,7 +174888,7 @@ id: MONDO:0009169 name: endocardial fibroelastosis def: "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." [Orphanet:2022] comment: Editor notes: ORDO classifies as both familial and non-familial -subset: gard_rare {source="GARD:0006336"} +subset: gard_rare {source="GARD:6336"} subset: ordo_disease {source="Orphanet:2022"} synonym: "EFE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226000] synonym: "Elastomyofibrosis" EXACT [DOID:12929] @@ -172574,6 +174896,7 @@ synonym: "endocardial fibroelastosis" EXACT [MONDO:Lexical, OMIM:226000] synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022] xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"} xref: EFO:0007251 {source="MONDO:equivalentTo"} +xref: GARD:6336 {source="Orphanet:2022"} xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929", source="Orphanet:2022/specific"} xref: ICD9:425.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12929"} xref: MedDRA:10014663 {source="Orphanet:2022", source="Orphanet:2022/e"} @@ -172630,11 +174953,13 @@ property_value: IAO:0000589 "enterocolitis (disease)" xsd:string id: MONDO:0009173 name: congenital enteropathy due to enteropeptidase deficiency def: "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." [Orphanet:168601] +subset: gard_rare {source="GARD:17038"} subset: ordo_disease {source="Orphanet:168601"} synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601] synonym: "enterokinase deficiency" RELATED [OMIM:226200] synonym: "enteropeptidase deficiency" RELATED [OMIM:226200] xref: DOID:0111667 {source="MONDO:equivalentTo"} +xref: GARD:17038 {source="Orphanet:168601"} xref: ICD10CM:K90.8 {source="Orphanet:168601", source="Orphanet:168601/attributed", source="Orphanet:168601/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562649 {source="MONDO:equivalentTo"} @@ -172651,6 +174976,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009174 name: protein-losing enteropathy def: "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." [MESH:D011504] +subset: gard_rare {source="GARD:15003"} synonym: "CHAPLE" RELATED ABBREVIATION [OMIM:226300] synonym: "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy" RELATED [OMIM:226300] synonym: "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy" RELATED [OMIM:226300] @@ -172660,6 +174986,7 @@ synonym: "exudative enteropathy" EXACT [DOID:10611] synonym: "protein-losing enteropathy" EXACT [MONDO:ambiguous] synonym: "protein-losing enteropathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10611 {source="MONDO:equivalentTo"} +xref: GARD:15003 {source="Orphanet:566175"} xref: HP:0002243 {source="MONDO:otherHierarchy"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011504 {source="DOID:10611", source="MONDO:equivalentTo"} @@ -172677,12 +175004,14 @@ property_value: IAO:0000589 "protein-losing enteropathy (disease)" xsd:string id: MONDO:0009175 name: eosinophilic fasciitis def: "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." [Orphanet:3165] +subset: gard_rare {source="GARD:6351"} subset: ordo_disease {source="Orphanet:3165"} synonym: "diffuse fasciitis with eosinophilia" EXACT [Orphanet:3165] synonym: "EF" RELATED ABBREVIATION [GARD:0006351] synonym: "eosinophilic fasciitis" EXACT [MONDO:ambiguous, OMIM:226350] synonym: "eosinophilic fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Shulman syndrome" EXACT [Orphanet:3165] +xref: GARD:6351 {source="Orphanet:3165"} xref: HP:0045029 {source="MONDO:otherHierarchy"} xref: ICD10CM:M35.4 {source="Orphanet:3165/e", source="Orphanet:3165"} xref: ICD9:728.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -172702,7 +175031,7 @@ property_value: IAO:0000589 "eosinophilic fasciitis (disease)" xsd:string id: MONDO:0009176 name: epidermodysplasia verruciformis def: "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:302] -subset: gard_rare {source="GARD:0006357"} +subset: gard_rare {source="GARD:6357"} subset: ordo_disease {source="Orphanet:302"} synonym: "epidermodysplasia verruciformis" EXACT CLINGEN_PREFERRED [MONDO:Lexical] synonym: "EV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226400] @@ -172711,6 +175040,7 @@ synonym: "Lewandowsky-Lutz dysplasia" EXACT [NCIT:C126877] synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302] synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302] xref: DOID:13777 {source="MONDO:equivalentTo"} +xref: GARD:6357 {source="Orphanet:302"} xref: ICD10CM:B07 {source="Orphanet:302", source="Orphanet:302/index", source="Orphanet:302/ntbt"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -172732,12 +175062,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6357/epiderm [Term] id: MONDO:0009177 name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome +subset: gard_rare {source="GARD:299"} subset: ordo_disease {source="Orphanet:231556"} synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299] synonym: "epidermolysis bullosa, late-onset localised junctional, with intellectual disability" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localised junctional, with mental retardation" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440] synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440] +xref: GARD:299 {source="Orphanet:231556"} xref: ICD10CM:Q81.8 {source="Orphanet:231556", source="Orphanet:231556/attributed", source="Orphanet:231556/ntbt"} xref: MESH:C535492 {source="MONDO:equivalentTo"} xref: OMIM:226440 {source="MONDO:equivalentTo", source="Orphanet:231556", source="Orphanet:231556/e"} @@ -172764,6 +175096,7 @@ is_a: MONDO:0006543 {source="DC-OMIM:226500", source="MESH:C562637"} ! epidermol id: MONDO:0009179 name: recessive dystrophic epidermolysis bullosa def: "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." [Orphanet:79408] +subset: gard_rare {source="GARD:6308"} subset: ordo_disease {source="Orphanet:79408"} synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [DOID:0060642, Orphanet:79408] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] @@ -172791,6 +175124,7 @@ synonym: "severe generalised recessive dystrophic epidermolysis bullosa" NARROW synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642] xref: DOID:0060642 {source="MONDO:equivalentTo"} +xref: GARD:6308 {source="Orphanet:79408"} xref: ICD10CM:Q81.2 {source="DOID:0060642", source="Orphanet:79408", source="Orphanet:79408/attributed", source="Orphanet:79408/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:226600 {source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408", source="Orphanet:79408/e"} @@ -172843,7 +175177,7 @@ property_value: confidence "0.7" xsd:double id: MONDO:0009181 name: epidermolysis bullosa simplex 5B, with muscular dystrophy def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." [https://orcid.org/0000-0001-5208-3432, Orphanet:257] -subset: gard_rare +subset: gard_rare {source="GARD:2137"} subset: ordo_disease {source="Orphanet:257"} synonym: "EBS-MD" EXACT [GARD:0002137, Orphanet:257] synonym: "EBSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226670] @@ -172857,6 +175191,7 @@ synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXA synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670] synonym: "MDEBS" RELATED ABBREVIATION [GARD:0002137] xref: DOID:0090017 {source="MONDO:equivalentTo"} +xref: GARD:2137 {source="Orphanet:257"} xref: ICD10CM:Q81.0 {source="Orphanet:257", source="Orphanet:257/attributed", source="Orphanet:257/ntbt", source="DOID:0090017"} xref: MESH:C535955 {source="MONDO:equivalentTo"} xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="Orphanet:257/e", source="DOID:0090017"} @@ -172877,7 +175212,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2137/epiderm id: MONDO:0009182 name: junctional epidermolysis bullosa Herlitz type def: "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." [Orphanet:79404] -subset: gard_rare {source="GARD:0002153"} +subset: gard_rare {source="GARD:2153"} subset: ordo_disease {source="Orphanet:79404"} synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [OMIM:226700] synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, Orphanet:79404] @@ -172896,6 +175231,7 @@ synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphane synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404] xref: DOID:0060737 {source="MONDO:equivalentTo"} +xref: GARD:2153 {source="Orphanet:79404"} xref: ICD10CM:Q81.1 {source="Orphanet:79404", source="Orphanet:79404/e", source="Orphanet:79404/specific", source="DOID:0060737"} xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="Orphanet:79404/e", source="DOID:0060737"} xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"} @@ -172909,7 +175245,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2153/junctio id: MONDO:0009183 name: junctional epidermolysis bullosa with pyloric atresia def: "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." [Orphanet:79403] -subset: gard_rare {source="GARD:0009694"} +subset: gard_rare {source="GARD:9694"} subset: ordo_disease {source="Orphanet:79403"} synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [OMIM:226730] synonym: "Carmi syndrome" EXACT [DOID:0060733, OMIM:226730, Orphanet:79403] @@ -172926,6 +175262,7 @@ synonym: "junctional epidermolysis bullosa - pyloric atresia" RELATED [GARD:0009 synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226730] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733] xref: DOID:0060733 {source="MONDO:equivalentTo"} +xref: GARD:9694 {source="Orphanet:79403"} xref: ICD10CM:Q81.8 {source="Orphanet:79403", source="Orphanet:79403/attributed", source="Orphanet:79403/ntbt", source="DOID:0060733"} xref: MESH:C535377 {source="MONDO:equivalentTo"} xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"} @@ -172949,6 +175286,7 @@ is_a: MONDO:0003847 {source="MESH:C565588/inferred"} ! hereditary disease id: MONDO:0009185 name: amelocerebrohypohidrotic syndrome def: "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." [Orphanet:1946] +subset: gard_rare {source="GARD:3128"} subset: ordo_malformation_syndrome {source="Orphanet:1946"} synonym: "amelocerebrohypohidrotic syndrome" EXACT CLINGEN_PREFERRED [] synonym: "epilepsy and Yellow teeth" RELATED [OMIM:226750] @@ -172961,6 +175299,7 @@ synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical, OMIM:226750] synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946] synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226750] xref: DOID:0111668 {source="MONDO:equivalentTo"} +xref: GARD:3128 {source="Orphanet:1946"} xref: ICD10CM:G40.8 {source="Orphanet:1946/attributed", source="Orphanet:1946/ntbt", source="Orphanet:1946"} xref: MESH:C537213 {source="MONDO:equivalentTo"} xref: OMIM:226750 {source="Orphanet:1946/e", source="MONDO:equivalentTo", source="Orphanet:1946"} @@ -172985,6 +175324,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009187 name: celiac disease-epilepsy-cerebral calcification syndrome def: "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." [Orphanet:1459] +subset: gard_rare {source="GARD:2166"} subset: ordo_disease {source="Orphanet:1459"} synonym: "bilateral occipital calcifications with epilepsy" RELATED [GARD:0002166] synonym: "CEC" EXACT ABBREVIATION [Orphanet:1459] @@ -172995,6 +175335,7 @@ synonym: "coeliac disease, epilepsy, and cerebral calcification syndrome" EXACT synonym: "epilepsy occipital calcifications" RELATED [GARD:0002166] synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810] synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166] +xref: GARD:2166 {source="Orphanet:1459"} xref: MESH:C535496 {source="MONDO:equivalentTo"} xref: OMIM:226810 {source="MONDO:equivalentTo", source="Orphanet:1459", source="Orphanet:1459/e"} xref: Orphanet:1459 {source="MONDO:equivalentTo", source="OMIM:226810"} @@ -173006,11 +175347,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0009188 name: epilepsy-telangiectasia syndrome def: "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." [Orphanet:1951] +subset: gard_rare {source="GARD:2168"} subset: ordo_disease {source="Orphanet:1951"} synonym: "epilepsy telangiectasia" RELATED [GARD:0002168] synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850] synonym: "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168] synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED DEPRECATED [GARD:0002168] +xref: GARD:2168 {source="Orphanet:1951"} xref: ICD10CM:G40.8 {source="Orphanet:1951", source="Orphanet:1951/attributed", source="Orphanet:1951/ntbt"} xref: MESH:C535497 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} xref: OMIM:226850 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} @@ -173027,6 +175370,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009189 name: multiple epiphyseal dysplasia type 4 def: "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." [Orphanet:93307] +subset: gard_rare {source="GARD:9793"} subset: ordo_disease {source="Orphanet:93307"} synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [Orphanet:93307] synonym: "EDM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:226900, Orphanet:93307] @@ -173044,6 +175388,7 @@ synonym: "Polyepiphyseal dysplasia type 4" EXACT [Orphanet:93307] synonym: "rMED" EXACT [Orphanet:93307] synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0070300 {source="MONDO:equivalentTo"} +xref: GARD:9793 {source="Orphanet:93307"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93307/attributed", source="Orphanet:93307/ntbt", source="Orphanet:93307"} xref: MESH:C535504 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} xref: OMIM:226900 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} @@ -173072,7 +175417,7 @@ is_a: MONDO:0003847 {source="MESH:C565585/inferred"} ! hereditary disease id: MONDO:0009191 name: Lowry-Wood syndrome def: "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." [Orphanet:1824] -subset: gard_rare {source="GARD:0000264"} +subset: gard_rare {source="GARD:264"} subset: ordo_disease {source="Orphanet:1824"} synonym: "epiphyseal dysplasia, microcephaly and nystagmus" RELATED [GARD:0000264] synonym: "epiphyseal dysplasia, microcephaly, and NYSTAGMUS" RELATED [OMIM:226960] @@ -173080,6 +175425,7 @@ synonym: "epiphyseal dysplasia-microcephaly-nystagmus syndrome" EXACT [Orphanet: synonym: "Lowry Wood syndrome" RELATED [GARD:0000264] synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960] synonym: "LWS" RELATED ABBREVIATION [GARD:0000264] +xref: GARD:264 {source="Orphanet:1824"} xref: ICD10CM:Q87.5 {source="Orphanet:1824", source="Orphanet:1824/attributed", source="Orphanet:1824/ntbt"} xref: MedDRA:10062600 {source="Orphanet:1824/e", source="Orphanet:1824"} xref: MESH:C537038 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} @@ -173096,7 +175442,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/264/lowry-wo id: MONDO:0009192 name: Wolcott-Rallison syndrome def: "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." [Orphanet:1667] -subset: gard_rare +subset: gard_rare {source="GARD:5589"} subset: ordo_disease {source="Orphanet:1667"} synonym: "early-onset diabetes mellitus with multiple epiphyseal dysplasia" EXACT [Orphanet:1667] synonym: "epiphyseal dysplasia multiple with early-onset diabetes mellitus" RELATED [GARD:0005589] @@ -173109,6 +175455,7 @@ synonym: "Wolcott Rallison syndrome" RELATED [GARD:0005589] synonym: "Wolcott-Rallison syndrome" EXACT CLINGEN_PREFERRED [OMIM:226980] synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667] xref: DOID:0090060 {source="MONDO:equivalentTo"} +xref: GARD:5589 {source="Orphanet:1667"} xref: ICD10CM:E13 {source="Orphanet:1667", source="Orphanet:1667/attributed", source="Orphanet:1667/ntbt", source="DOID:0090060"} xref: MESH:C536739 {source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"} xref: NCIT:C131007 {source="MONDO:equivalentTo"} @@ -173141,7 +175488,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009194 name: immunodeficiency 32B def: "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." [GARD:0009534] -subset: gard_rare +subset: gard_rare {source="GARD:9534"} subset: ordo_disease {source="Orphanet:2566"} synonym: "CAEBV infection" RELATED [GARD:0009534] synonym: "CAEBV syndrome" EXACT [Orphanet:2566] @@ -173158,6 +175505,7 @@ synonym: "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cel synonym: "IRF8 deficiency, autosomal recessive" EXACT [OMIM:614894] synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:614894] xref: DOID:0111985 {source="MONDO:equivalentTo"} +xref: GARD:9534 {source="Orphanet:2566"} xref: ICD10CM:B27.0 {source="Orphanet:2566/ntbt", source="Orphanet:2566"} xref: OMIM:226990 {source="Orphanet:2566", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:2566/e", source="GARD:0009534"} xref: OMIM:614894 {source="MONDO:equivalentObsolete"} @@ -173185,7 +175533,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009196 name: ermine phenotype def: "A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging." [Orphanet:999] -subset: gard_rare {source="GARD:0000407"} +subset: gard_rare {source="GARD:407"} subset: ordo_malformation_syndrome {source="Orphanet:999"} synonym: "BADS" RELATED ABBREVIATION [OMIM:227010] synonym: "BADS syndrome" RELATED [MESH:C562663] @@ -173194,6 +175542,7 @@ synonym: "black locks, oculocutaneous albinism, and deafness of the sensorineura synonym: "ermine phenotype" EXACT [OMIM:227010] synonym: "O'Doherty syndrome" EXACT [Orphanet:999] synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999] +xref: GARD:407 {source="Orphanet:999"} xref: ICD10CM:E70.3 {source="Orphanet:999/attributed", source="Orphanet:999/ntbt", source="MONDO:relatedTo", source="Orphanet:999"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82812 {source="UMLS:C0268501"} @@ -173212,13 +175561,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/407/ermine-p id: MONDO:0009197 name: transient erythroblastopenia of childhood def: "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." [NCIT:C131683] -subset: gard_rare {source="GARD:0007793"} +subset: gard_rare {source="GARD:7793"} subset: ordo_disease {source="Orphanet:98871"} synonym: "erythroblastopenia, transient" RELATED [OMIM:227050] synonym: "familial transient erythroblastopenia of childhood" RELATED [GARD:0007793] synonym: "tec" RELATED [MONDO:Lexical, OMIM:227050] synonym: "transient acquired pure red cell aplasia" EXACT [Orphanet:98871] synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, OMIM:227050] +xref: GARD:7793 {source="Orphanet:98871"} xref: ICD10CM:D60.1 {source="Orphanet:98871/e", source="Orphanet:98871"} xref: ICD9:284.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536980 {source="Orphanet:98871/e", source="MONDO:equivalentTo", source="Orphanet:98871"} @@ -173236,12 +175586,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7793/transie id: MONDO:0009198 name: congenital lethal erythroderma def: "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." [Orphanet:1954] -subset: gard_rare {source="GARD:0002192"} +subset: gard_rare {source="GARD:2192"} subset: ordo_disease {source="Orphanet:1954"} synonym: "congenital exfoliative erythroderma resistant to treatment" RELATED [GARD:0002192] synonym: "erythroderma lethal congenital" RELATED [GARD:0002192] synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090] synonym: "lethal congenital erythroderma" RELATED [GARD:0002192] +xref: GARD:2192 {source="Orphanet:1954"} xref: ICD10CM:Q82.8 {source="Orphanet:1954", source="Orphanet:1954/attributed", source="Orphanet:1954/ntbt"} xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} @@ -173268,9 +175619,11 @@ is_a: MONDO:0003847 {source="MESH:C562651/inferred"} ! hereditary disease id: MONDO:0009200 name: eyebrow duplication-syndactyly syndrome def: "Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." [Orphanet:3172] +subset: gard_rare {source="GARD:2216"} subset: ordo_malformation_syndrome {source="Orphanet:3172"} synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED [GARD:0002216] synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210] +xref: GARD:2216 {source="Orphanet:3172"} xref: MESH:C536383 {source="MONDO:equivalentTo"} xref: OMIM:227210 {source="Orphanet:3172/e", source="MONDO:equivalentTo", source="Orphanet:3172"} xref: Orphanet:3172 {source="OMIM:227210", source="MONDO:equivalentTo"} @@ -173291,12 +175644,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009202 name: Thakker-Donnai syndrome -subset: gard_rare {source="GARD:0005158"} +subset: gard_rare {source="GARD:5158"} subset: ordo_malformation_syndrome {source="Orphanet:1780"} synonym: "dysmorphic facial features and multiple structural abnormalities" RELATED [GARD:0005158] synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158] synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780] synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255] +xref: GARD:5158 {source="Orphanet:1780"} xref: ICD10CM:Q87.8 {source="Orphanet:1780", source="Orphanet:1780/attributed", source="Orphanet:1780/ntbt"} xref: MESH:C536503 {source="MONDO:equivalentTo"} xref: OMIM:227255 {source="Orphanet:1780", source="MONDO:equivalentTo", source="Orphanet:1780/e"} @@ -173313,7 +175667,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5158/thakker id: MONDO:0009203 name: focal facial dermal dysplasia type III def: "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." [Orphanet:1807] -subset: gard_rare +subset: gard_rare {source="GARD:121"} subset: ordo_clinical_subtype {source="Orphanet:1807"} synonym: "bitemporal forceps Marks syndrome" RELATED [OMIM:227260] synonym: "bitemporal forceps marks syndrome" RELATED [GARD:0000121] @@ -173327,6 +175681,7 @@ synonym: "focal facial dermal dysplasia type III" EXACT CLINGEN_PREFERRED [] synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260] synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260] synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807] +xref: GARD:121 {source="Orphanet:1807"} xref: ICD10CM:Q82.8 {source="Orphanet:1807", source="Orphanet:1807/attributed", source="Orphanet:1807/ntbt"} xref: MESH:C536385 {source="Orphanet:1807", source="Orphanet:1807/e"} xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="Orphanet:1807/e"} @@ -173342,10 +175697,11 @@ property_value: confidence "0.440329218106996" xsd:double id: MONDO:0009204 name: lethal faciocardiomelic dysplasia def: "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." [Orphanet:1972] -subset: gard_rare {source="GARD:0002229"} +subset: gard_rare {source="GARD:2229"} subset: ordo_malformation_syndrome {source="Orphanet:1972"} synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229] synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270] +xref: GARD:2229 {source="Orphanet:1972"} xref: ICD10CM:Q87.8 {source="Orphanet:1972/attributed", source="Orphanet:1972/ntbt", source="Orphanet:1972"} xref: MESH:C565578 {source="MONDO:equivalentTo"} xref: OMIM:227270 {source="Orphanet:1972", source="MONDO:equivalentTo", source="Orphanet:1972/e"} @@ -173364,11 +175720,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2229/facioca id: MONDO:0009205 name: faciocardiorenal syndrome def: "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." [Orphanet:1973] -subset: gard_rare {source="GARD:0002230"} +subset: gard_rare {source="GARD:2230"} subset: ordo_malformation_syndrome {source="Orphanet:1973"} synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230] synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973] synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280] +xref: GARD:2230 {source="Orphanet:1973"} xref: ICD10CM:Q87.8 {source="Orphanet:1973", source="Orphanet:1973/attributed", source="Orphanet:1973/ntbt"} xref: MESH:C536388 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} xref: OMIM:227280 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} @@ -173383,6 +175740,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2230/facioca id: MONDO:0009206 name: factor V and factor VIII, combined deficiency of, type 1 def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18630"} synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern] synonym: "combined factor V and VIII deficiency" EXACT [OMIM:227300, OMIM:genemap2] synonym: "F5F8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:227300] @@ -173393,6 +175751,7 @@ synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:22730 synonym: "FMFD 1" RELATED [OMIM:227300] synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] +xref: GARD:18630 {source="OMIM:227300"} xref: OMIM:227300 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="OMIM:227300"} xref: SCTID:84048006 {source="MONDO:equivalentTo"} @@ -173407,8 +175766,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009207 name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor +subset: gard_rare {source="GARD:18631"} synonym: "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor" RELATED [OMIM:227310] synonym: "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" EXACT [OMIM:227310] +xref: GARD:18631 {source="OMIM:227310"} xref: OMIM:227310 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="OMIM:227310"} xref: UMLS:C1856882 {source="OMIM:227310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -173431,12 +175792,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009209 name: autosomal recessive faciodigitogenital syndrome def: "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." [Orphanet:1974] +subset: gard_rare {source="GARD:5124"} subset: ordo_malformation_syndrome {source="Orphanet:1974"} synonym: "Aarskog-like syndrome" EXACT [OMIM:227330, Orphanet:1974] synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974] synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330] synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330] synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974] +xref: GARD:5124 {source="Orphanet:1974"} xref: ICD10CM:Q87.8 {source="Orphanet:1974", source="Orphanet:1974/attributed", source="Orphanet:1974/ntbt"} xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="Orphanet:1974/e"} xref: Orphanet:1974 {source="OMIM:227330", source="MONDO:equivalentTo"} @@ -173453,7 +175816,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009210 name: congenital factor V deficiency def: "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." [Orphanet:326] -subset: gard_rare {source="GARD:0002237"} +subset: gard_rare {source="GARD:2237"} subset: ordo_disease {source="Orphanet:326"} synonym: "congenital factor V deficiency" EXACT CLINGEN_PREFERRED [] synonym: "deficiency, labile" EXACT [DOID:2216] @@ -173469,6 +175832,7 @@ synonym: "Owren Parahemophilia" RELATED [OMIM:227400] synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326] synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326] xref: DOID:2216 {source="MONDO:equivalentTo"} +xref: GARD:2237 {source="Orphanet:326"} xref: ICD10CM:D68.2 {source="Orphanet:326", source="Orphanet:326/attributed", source="Orphanet:326/ntbt", source="DOID:2216"} xref: MedDRA:10048930 {source="Orphanet:326", source="Orphanet:326/e"} xref: MESH:D005166 {source="DOID:2216"} @@ -173495,6 +175859,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2237/factor- id: MONDO:0009211 name: congenital factor VII deficiency def: "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." [Orphanet:327] +subset: gard_rare {source="GARD:2238"} subset: ordo_disease {source="Orphanet:327"} synonym: "congenital factor VII deficiency" EXACT CLINGEN_PREFERRED [] synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327] @@ -173504,6 +175869,7 @@ synonym: "factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500] synonym: "factor VII deficiency" RELATED [OMIM:227500] synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327] xref: DOID:2215 {source="MONDO:equivalentTo"} +xref: GARD:2238 {source="Orphanet:327"} xref: ICD10CM:D68.2 {source="Orphanet:327/attributed", source="Orphanet:327/ntbt", source="Orphanet:327", source="DOID:2215"} xref: MedDRA:10016079 {source="Orphanet:327", source="Orphanet:327/e"} xref: MESH:D005168 {source="DOID:2215"} @@ -173525,6 +175891,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009212 name: congenital factor X deficiency def: "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." [Orphanet:328] +subset: gard_rare {source="GARD:6404"} subset: ordo_disease {source="Orphanet:328"} synonym: "congenital factor X deficiency" EXACT CLINGEN_PREFERRED [] synonym: "congenital Stuart factor deficiency" EXACT [Orphanet:328] @@ -173538,6 +175905,7 @@ synonym: "Stuart factor deficiency, congenital" RELATED [GARD:0006404] synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600] synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328] xref: DOID:2222 {source="MONDO:equivalentTo"} +xref: GARD:6404 {source="Orphanet:328"} xref: ICD10CM:D68.2 {source="Orphanet:328/attributed", source="Orphanet:328/ntbt", source="Orphanet:328"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005171 {source="DOID:2222"} @@ -173560,6 +175928,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009213 name: Fanconi anemia complementation group C def: "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." [NCIT:C125704] +subset: gard_rare {source="GARD:15168"} synonym: "FA3" EXACT ABBREVIATION [DOID:0111087] synonym: "FACC" EXACT ABBREVIATION [DOID:0111087] synonym: "facc" RELATED [OMIM:227645] @@ -173572,6 +175941,7 @@ synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1, OMIM synonym: "Fanconi pancytopenia type 3" EXACT [DOID:0111087] synonym: "Fanconi pancytopenia, type 3" RELATED [OMIM:227645] xref: DOID:0111087 {source="MONDO:equivalentTo"} +xref: GARD:15168 {source="OMIM:227645"} xref: NCIT:C125704 {source="MONDO:equivalentTo"} xref: OMIM:227645 {source="MONDO:equivalentTo", source="DOID:0111087"} xref: UMLS:C3468041 {source="MONDO:equivalentTo", source="OMIM:227645", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C125704"} @@ -173583,6 +175953,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0009214 name: Fanconi anemia complementation group D2 def: "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." [NCIT:C125706] +subset: gard_rare {source="GARD:15169"} synonym: "FA4" EXACT ABBREVIATION [DOID:0111083] synonym: "FAD2" EXACT ABBREVIATION [DOID:0111083] synonym: "Fad2" RELATED [OMIM:227646] @@ -173593,6 +175964,7 @@ synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical, OMIM synonym: "Fanconi pancytopenia type 4" EXACT [DOID:0111083] synonym: "Fanconi pancytopenia, type 4" RELATED [OMIM:227646] xref: DOID:0111083 {source="MONDO:equivalentTo"} +xref: GARD:15169 {source="OMIM:227646"} xref: NCIT:C125706 {source="MONDO:equivalentTo"} xref: OMIM:227646 {source="DOID:0111083", source="MONDO:equivalentTo"} xref: UMLS:C3160738 {source="NCIT:C125706", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:227646"} @@ -173604,6 +175976,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0009215 name: Fanconi anemia complementation group A def: "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." [NCIT:C125702] +subset: gard_rare {source="GARD:15170"} synonym: "Estren-Dameshek variant of Fanconi Anaemia" RELATED OMO:0003005 [] synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650] synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650] @@ -173622,6 +175995,7 @@ synonym: "Fanconi Anemia, complementation group type a" EXACT [MONDORULE:1, OMIM synonym: "Fanconi Anemia, Estren-Dameshek variant" RELATED [OMIM:227650] xref: DOID:0111095 {source="MONDO:equivalentTo"} xref: EFO:0009044 {source="MONDO:equivalentTo"} +xref: GARD:15170 {source="OMIM:227650"} xref: GTR:AN1051558 xref: NCIT:C125702 {source="MONDO:equivalentTo"} xref: OMIM:227650 {source="MONDO:equivalentTo", source="DOID:0111095"} @@ -173642,7 +176016,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009216 name: glycogen storage disease due to GLUT2 deficiency def: "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." [Orphanet:2088] -subset: gard_rare +subset: gard_rare {source="GARD:2268"} subset: ordo_disease {source="Orphanet:2088"} synonym: "Bickel-Fanconi glycogenosis" EXACT [Orphanet:2088] synonym: "Fanconi Bickel syndrome" EXACT [GARD:0002268] @@ -173667,6 +176041,7 @@ synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [OMIM:227810] synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268, OMIM:227810] synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268] synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810] +xref: GARD:2268 {source="Orphanet:2088"} xref: ICD10CM:E74.0 {source="Orphanet:2088", source="Orphanet:2088/attributed", source="Orphanet:2088/ntbt"} xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="Orphanet:2088/e"} xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"} @@ -173701,6 +176076,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009218 name: Farber lipogranulomatosis def: "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." [Orphanet:333] +subset: gard_rare {source="GARD:6426"} subset: ordo_disease {source="Orphanet:333"} synonym: "AC deficiency" RELATED [OMIM:228000] synonym: "acid ceramidase deficiency" EXACT [DOID:0050464, OMIM:228000, Orphanet:333] @@ -173712,6 +176088,7 @@ synonym: "FRBRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228000] synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464] synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000] xref: DOID:0050464 {source="MONDO:equivalentTo"} +xref: GARD:6426 {source="Orphanet:333"} xref: ICD10CM:E75.2 {source="Orphanet:333/ntbt", source="Orphanet:333/inclusion", source="Orphanet:333"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537075 {source="Orphanet:333/e", source="Orphanet:333"} @@ -173736,7 +176113,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009219 name: fascial dystrophy, congenital +subset: gard_rare {source="GARD:15171"} synonym: "fascial dystrophy, congenital" EXACT [OMIM:228020] +xref: GARD:15171 {source="OMIM:228020"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563219 {source="MONDO:equivalentTo"} xref: OMIM:228020 {source="MONDO:equivalentTo"} @@ -173770,6 +176149,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009221 name: femur-fibula-ulna complex def: "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." [Orphanet:2019] +subset: gard_rare {source="GARD:2286"} subset: ordo_malformation_syndrome {source="Orphanet:2019"} synonym: "femur fibula ulna syndrome" RELATED [GARD:0002286] synonym: "femur-fibula-ulna dysostosis" EXACT [Orphanet:2019] @@ -173777,6 +176157,7 @@ synonym: "femur-fibula-ulna syndrome" EXACT [OMIM:228200, Orphanet:2019] synonym: "FFU complex" EXACT [Orphanet:2019] synonym: "Ffu syndrome" RELATED [OMIM:228200] synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019] +xref: GARD:2286 {source="Orphanet:2019"} xref: ICD10CM:Q74.8 {source="Orphanet:2019", source="Orphanet:2019/attributed", source="Orphanet:2019/ntbt"} xref: MedDRA:10068448 {source="Orphanet:2019", source="Orphanet:2019/e"} xref: MESH:C537918 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} @@ -173796,12 +176177,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009222 name: Gollop-Wolfgang complex def: "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." [Orphanet:1986] +subset: gard_rare {source="GARD:2285"} subset: ordo_malformation_syndrome {source="Orphanet:1986"} synonym: "bifid femur-monodactylous ectrodactyly syndrome" EXACT [Orphanet:1986] synonym: "femur bifid with monodactylous ectrodactyly" RELATED [GARD:0002285] synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMIM:228250] synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250] synonym: "GWC" RELATED ABBREVIATION [GARD:0002285] +xref: GARD:2285 {source="Orphanet:1986"} xref: ICD10CM:Q74.8 {source="Orphanet:1986", source="Orphanet:1986/attributed", source="Orphanet:1986/ntbt"} xref: MESH:C537917 {source="MONDO:equivalentTo"} xref: OMIM:228250 {source="MONDO:equivalentTo", source="Orphanet:1986", source="Orphanet:1986/e"} @@ -173819,6 +176202,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009223 name: hypogonadotropic hypogonadism 23 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10127"} subset: ordo_clinical_subtype {source="Orphanet:325448"} synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] @@ -173834,6 +176218,7 @@ synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficie synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300] xref: DOID:0090091 {source="MONDO:equivalentTo"} +xref: GARD:10127 {source="Orphanet:325448"} xref: ICD10CM:Q56.1 {source="Orphanet:325448/attributed", source="Orphanet:325448/ntbt", source="Orphanet:325448", source="DOID:0090091"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537919 {source="MONDO:equivalentTo"} @@ -173852,12 +176237,13 @@ property_value: confidence "6.499999999999998" xsd:double id: MONDO:0009224 name: fetal iodine syndrome def: "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." [Orphanet:1910] -subset: gard_rare {source="GARD:0002304"} +subset: gard_rare {source="GARD:2304"} subset: ordo_malformation_syndrome {source="Orphanet:1910"} synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355] synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355] synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228355] synonym: "foetal iodine deficiency disorder" RELATED OMO:0003005 [] +xref: GARD:2304 {source="Orphanet:1910"} xref: ICD10CM:P72.2 {source="Orphanet:1910", source="Orphanet:1910/ntbt"} xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="Orphanet:1910/e"} xref: Orphanet:1910 {source="OMIM:228355", source="MONDO:equivalentTo"} @@ -173927,11 +176313,12 @@ property_value: confidence "0.8095238095238093" xsd:double id: MONDO:0009228 name: gingival fibromatosis-facial dysmorphism syndrome def: "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." [Orphanet:2025] -subset: gard_rare +subset: gard_rare {source="GARD:10528"} subset: ordo_malformation_syndrome {source="Orphanet:2025"} synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560] synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528] synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528] +xref: GARD:10528 {source="Orphanet:2025"} xref: ICD10CM:Q87.0 {source="Orphanet:2025", source="Orphanet:2025/attributed", source="Orphanet:2025/ntbt"} xref: MESH:C565567 {source="MONDO:equivalentTo"} xref: OMIM:228560 {source="Orphanet:2025", source="MONDO:equivalentTo", source="Orphanet:2025/e", source="GARD:0010528"} @@ -173947,6 +176334,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10528/gingiv [Term] id: MONDO:0009229 name: hyaline fibromatosis syndrome +subset: gard_rare {source="GARD:22029"} subset: ordo_disease synonym: "HFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228600] synonym: "hyaline fibromatosis syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:228600] @@ -173955,6 +176343,7 @@ synonym: "infantile systemic hyalinosis (former subtype)" RELATED [GARD:0006807] synonym: "inherited systemic hyalinosis" RELATED [GARD:0006807] synonym: "juvenile hyaline fibromatosis (former subtype)" RELATED [GARD:0006807] xref: DOID:0111669 {source="MONDO:equivalentTo"} +xref: GARD:22029 {source="Orphanet:498474"} xref: OMIM:228600 {source="MONDO:equivalentTo"} xref: Orphanet:2028 {source="OMIM:228600"} xref: Orphanet:498474 {source="MONDO:equivalentTo"} @@ -173966,10 +176355,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009230 name: fibrosclerosis, multifocal +subset: gard_rare {source="GARD:5697"} synonym: "fibrosclerosis, multifocal" EXACT [OMIM:228800] synonym: "mediastinal fibrosis, familial" RELATED [OMIM:228800] synonym: "multifocal fibrosclerosis" RELATED [GARD:0005697] synonym: "retroperitoneal fibrosis, familial" RELATED [OMIM:228800] +xref: GARD:5697 {source="OMIM:228800"} xref: ICD10CM:M35.5 {source="MONDO:equivalentTo"} xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537375 {source="MONDO:equivalentTo"} @@ -173984,13 +176375,14 @@ property_value: confidence "28.000000000000053" xsd:double [Term] id: MONDO:0009231 name: acromesomelic dysplasia 2B -subset: gard_rare {source="GARD:0009879"} +subset: gard_rare {source="GARD:9879"} subset: ordo_malformation_syndrome {source="Orphanet:2639"} synonym: "acromesomelic dysplasia 2B" EXACT [OMIM:228900, OMIM:genemap2] synonym: "Du Pan syndrome" EXACT [DOID:0050790, OMIM:228900, Orphanet:2639] synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639] synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900] xref: DOID:0050790 {source="MONDO:equivalentTo"} +xref: GARD:9879 {source="Orphanet:2639"} xref: ICD10CM:Q73.8 {source="Orphanet:2639/attributed", source="Orphanet:2639/ntbt", source="Orphanet:2639"} xref: MESH:C537931 {source="MONDO:equivalentTo"} xref: OMIM:228900 {source="Orphanet:2639/e", source="MONDO:equivalentTo", source="Orphanet:2639", source="DOID:0050790"} @@ -174012,7 +176404,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9879/fibular id: MONDO:0009232 name: Fuhrmann syndrome def: "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." [Orphanet:2854] -subset: gard_rare {source="GARD:0002410"} +subset: gard_rare {source="GARD:2410"} subset: ordo_malformation_syndrome {source="Orphanet:2854"} synonym: "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies" RELATED [GARD:0002410] synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [OMIM:228930] @@ -174020,6 +176412,7 @@ synonym: "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" EX synonym: "Fuhrmann syndrome" EXACT [OMIM:228930] synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854] xref: DOID:0090067 {source="MONDO:equivalentTo"} +xref: GARD:2410 {source="Orphanet:2854"} xref: ICD10CM:Q74.8 {source="DOID:0090067", source="Orphanet:2854", source="Orphanet:2854/attributed", source="Orphanet:2854/ntbt"} xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} @@ -174039,11 +176432,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2410/fuhrman id: MONDO:0009233 name: Fibulo-ulnar hypoplasia-renal anomalies syndrome def: "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." [Orphanet:2256] +subset: gard_rare {source="GARD:320"} subset: ordo_malformation_syndrome {source="Orphanet:2256"} synonym: "Fibulo ulnar hypoplasia renal anomalies" RELATED [GARD:0000320] synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [OMIM:228940] synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320] synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256] +xref: GARD:320 {source="Orphanet:2256"} xref: ICD10CM:Q87.8 {source="Orphanet:2256", source="Orphanet:2256/attributed", source="Orphanet:2256/ntbt"} xref: MESH:C537226 {source="MONDO:equivalentTo"} xref: OMIM:228940 {source="Orphanet:2256", source="MONDO:equivalentTo", source="Orphanet:2256/e"} @@ -174057,7 +176452,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009234 name: congenital high-molecular-weight kininogen deficiency def: "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." [NCIT:C98946] -subset: gard_rare +subset: gard_rare {source="GARD:2684"} subset: ordo_disease {source="Orphanet:483"} synonym: "Fitzgerald trait" RELATED [MESH:C537060, OMIM:228960] synonym: "Fitzgerald trait kininogen deficiency, total, included" RELATED [MESH:C537060] @@ -174076,6 +176471,7 @@ synonym: "kininogen deficiency, total" RELATED [MESH:C537060, OMIM:228960] synonym: "Williams trait" RELATED [OMIM:228960] synonym: "Williams trait, included" RELATED [MESH:C537060] xref: DOID:0111676 {source="MONDO:equivalentTo"} +xref: GARD:2684 {source="Orphanet:483"} xref: ICD10CM:D68.8 {source="Orphanet:483", source="Orphanet:483/attributed", source="Orphanet:483/ntbt"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537060 {source="MONDO:equivalentTo"} @@ -174100,11 +176496,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2684/high-mo id: MONDO:0009235 name: familial benign flecked retina def: "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." [Orphanet:363989] +subset: gard_rare {source="GARD:18651"} subset: ordo_disease {source="Orphanet:363989"} synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980] synonym: "fleck retina, familial benign" EXACT [OMIM:228980, OMIM:genemap2] synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228980] xref: DOID:0111677 {source="MONDO:equivalentTo"} +xref: GARD:18651 {source="Orphanet:363989"} xref: ICD10CM:H35.5 {source="Orphanet:363989/attributed", source="Orphanet:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"} xref: MESH:C565564 {source="MONDO:equivalentTo"} xref: OMIM:228980 {source="Orphanet:363989/e", source="MONDO:equivalentTo", source="Orphanet:363989"} @@ -174119,8 +176517,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009236 name: Kandori fleck retina def: "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." [Orphanet:99179] +subset: gard_rare {source="GARD:16900"} subset: ordo_malformation_syndrome {source="Orphanet:99179"} synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990] +xref: GARD:16900 {source="Orphanet:99179"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"} xref: MESH:C562701 {source="MONDO:equivalentTo"} xref: OMIM:228990 {source="Orphanet:99179/e", source="MONDO:equivalentTo", source="Orphanet:99179"} @@ -174158,13 +176558,14 @@ id: MONDO:0009238 name: hereditary folate malabsorption def: "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." [Orphanet:90045] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0012983"} +subset: gard_rare {source="GARD:12983"} subset: ordo_disease {source="Orphanet:90045"} synonym: "congenital defect of folate absorption" RELATED [GARD:0012983] synonym: "congenital folate malabsorption" EXACT [Orphanet:90045] synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050] synonym: "folic acid transport defect" RELATED [GARD:0012983] xref: DOID:0111678 {source="MONDO:equivalentTo"} +xref: GARD:12983 {source="Orphanet:90045"} xref: ICD10CM:D52.8 {source="Orphanet:90045", source="Orphanet:90045/attributed", source="Orphanet:90045/ntbt"} xref: MESH:C562799 {source="MONDO:equivalentTo"} xref: NCIT:C156424 {source="MONDO:equivalentTo"} @@ -174185,6 +176586,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12983/heredi id: MONDO:0009239 name: hypogonadotropic hypogonadism 24 without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10128"} subset: ordo_disease {source="Orphanet:52901"} synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070] synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -174196,6 +176598,7 @@ synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD: synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088] synonym: "isolated FSH deficiency" EXACT [Orphanet:52901] xref: DOID:0090088 {source="MONDO:equivalentTo"} +xref: GARD:10128 {source="Orphanet:52901"} xref: ICD10CM:E23.6 {source="DOID:0090088", source="Orphanet:52901", source="Orphanet:52901/attributed", source="Orphanet:52901/ntbt"} xref: MESH:C537070 {source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} @@ -174213,6 +176616,7 @@ property_value: confidence "17.66666666666667" xsd:double id: MONDO:0009240 name: formiminoglutamic aciduria def: "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." [Orphanet:51208] +subset: gard_rare {source="GARD:9279"} subset: ordo_disease {source="Orphanet:51208"} synonym: "Arakawa syndrome 1" RELATED [GARD:0009279] synonym: "Figlu-Uria" RELATED [OMIM:229100] @@ -174225,6 +176629,7 @@ synonym: "formiminotransferase deficiency syndrome" RELATED [GARD:0009279] synonym: "FTCD deficiency" EXACT [Orphanet:51208] synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208] xref: DOID:0111679 {source="MONDO:equivalentTo"} +xref: GARD:9279 {source="Orphanet:51208"} xref: ICD10CM:E70.8 {source="Orphanet:51208/attributed", source="Orphanet:51208/ntbt", source="Orphanet:51208"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537425 {source="MONDO:equivalentTo"} @@ -174242,7 +176647,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0009241 name: fountain syndrome def: "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." [Orphanet:3219] -subset: gard_rare {source="GARD:0000064"} +subset: gard_rare {source="GARD:64"} subset: ordo_malformation_syndrome {source="Orphanet:3219"} synonym: "deafness, skeletal dysplasia, lip granuloma" RELATED [GARD:0000064] synonym: "deafness-skeletal dysplasia-coarse face with full lips syndrome" EXACT [Orphanet:3219] @@ -174251,6 +176656,7 @@ synonym: "fountain syndrome" EXACT [OMIM:229120] synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips" RELATED [GARD:0000064] synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120] synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [OMIM:229120] +xref: GARD:64 {source="Orphanet:3219"} xref: ICD10CM:Q87.8 {source="Orphanet:3219", source="Orphanet:3219/attributed", source="Orphanet:3219/ntbt"} xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} @@ -174268,7 +176674,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/64/fountain- id: MONDO:0009242 name: brittle cornea syndrome def: "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." [Orphanet:90354] -subset: gard_rare {source="GARD:0001019"} +subset: gard_rare {source="GARD:1019"} subset: ordo_disease {source="Orphanet:90354"} subset: prototype_pattern synonym: "BCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229200] @@ -174282,6 +176688,7 @@ synonym: "Ehlers-Danlos syndrome type 6B (formerly)" RELATED [GARD:0001019] synonym: "kyphoscoliosis type" EXACT [DOID:14775] synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775] xref: DOID:14775 {source="MONDO:equivalentTo"} +xref: GARD:1019 {source="Orphanet:90354"} xref: ICD10CM:Q79.6 {source="Orphanet:90354", source="Orphanet:90354/attributed", source="Orphanet:90354/ntbt"} xref: MESH:C536198 {source="DOID:14775", source="MONDO:directSiblingOf"} xref: OMIMPS:229200 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -174343,7 +176750,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009247 name: frontofacionasal dysplasia def: "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." [Orphanet:1791] -subset: gard_rare {source="GARD:0002390"} +subset: gard_rare {source="GARD:2390"} subset: ordo_malformation_syndrome {source="Orphanet:1791"} synonym: "Ffnd" RELATED [OMIM:229400] synonym: "fronto-facio-nasal dyplasia" RELATED [GARD:0002390] @@ -174351,6 +176758,7 @@ synonym: "fronto-facio-nasal dysostosis" RELATED [GARD:0002390] synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400] synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400] synonym: "Gollop syndrome" EXACT [Orphanet:1791] +xref: GARD:2390 {source="Orphanet:1791"} xref: ICD10CM:Q75.8 {source="Orphanet:1791", source="Orphanet:1791/attributed", source="Orphanet:1791/ntbt"} xref: MESH:C538063 {source="MONDO:equivalentTo"} xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="Orphanet:1791/e"} @@ -174378,6 +176786,7 @@ is_a: MONDO:0003847 {source="MESH:C565558/inferred"} ! hereditary disease id: MONDO:0009249 name: hereditary fructose intolerance def: "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." [Orphanet:469] +subset: gard_rare {source="GARD:6622"} subset: ordo_disease {source="Orphanet:469"} synonym: "Aldob deficiency" RELATED [OMIM:229600] synonym: "aldolase B deficiency" RELATED [OMIM:229600] @@ -174392,6 +176801,7 @@ synonym: "hereditary fructose intolerance syndrome" EXACT [MONDO:0004906] synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:469] synonym: "hereditary fructosemia" EXACT [Orphanet:469] xref: DOID:9869 {source="MONDO:equivalentTo"} +xref: GARD:6622 {source="Orphanet:469"} xref: ICD10CM:E74.1 {source="Orphanet:469/inclusion", source="Orphanet:469", source="Orphanet:469/ntbt"} xref: ICD10CM:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"} xref: ICD9:271.2 {source="DOID:9869"} @@ -174433,6 +176843,7 @@ is_obsolete: true id: MONDO:0009251 name: fructose-1,6-bisphosphatase deficiency def: "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." [Orphanet:348] +subset: gard_rare {source="GARD:2400"} subset: ordo_disease {source="Orphanet:348"} synonym: "baker-Winegrad disease" RELATED [GARD:0002400] synonym: "FBP1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229700] @@ -174441,6 +176852,7 @@ synonym: "fructose 1,6 diphosphatase deficiency" RELATED [GARD:0002400] synonym: "fructose-1,6-bisphosphatase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:229700] synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204] xref: DOID:5204 {source="MONDO:equivalentTo"} +xref: GARD:2400 {source="Orphanet:348"} xref: ICD10CM:E74.1 {source="Orphanet:348", source="Orphanet:348/attributed", source="Orphanet:348/ntbt"} xref: ICD10CM:E74.19 {source="DOID:5204"} xref: MESH:D015319 {source="DOID:5204"} @@ -174462,12 +176874,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009252 name: essential fructosuria def: "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." [Orphanet:2056] +subset: gard_rare {source="GARD:6471"} subset: ordo_disease {source="Orphanet:2056"} synonym: "fructokinase deficiency" EXACT [Orphanet:2056] synonym: "fructosuria, essential" EXACT [OMIM:229800, OMIM:genemap2] synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800] synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056] xref: DOID:0111680 {source="MONDO:equivalentTo"} +xref: GARD:6471 {source="Orphanet:2056"} xref: ICD10CM:E74.1 {source="Orphanet:2056", source="Orphanet:2056/attributed", source="Orphanet:2056/ntbt"} xref: ICD10CM:E74.11 {source="MONDO:equivalentTo"} xref: MedDRA:10015487 {source="Orphanet:2056", source="Orphanet:2056/e"} @@ -174488,13 +176902,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009253 name: Fryns syndrome def: "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." [Orphanet:2059] -subset: gard_rare {source="GARD:0003699"} +subset: gard_rare {source="GARD:3699"} subset: ordo_malformation_syndrome {source="Orphanet:2059"} synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [OMIM:229850] synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [Orphanet:2059] synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229850] synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850] synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699] +xref: GARD:3699 {source="Orphanet:2059"} xref: ICD10CM:Q87.8 {source="Orphanet:2059/attributed", source="Orphanet:2059/ntbt", source="Orphanet:2059"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538070 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} @@ -174515,7 +176930,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3699/fryns-s id: MONDO:0009254 name: fucosidosis def: "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." [Orphanet:349] -subset: gard_rare {source="GARD:0006473"} +subset: gard_rare {source="GARD:6473"} subset: ordo_disease {source="Orphanet:349"} synonym: "A-fucosidase deficiency" EXACT [DOID:14500] synonym: "alpha fucosidase deficiency" EXACT [DOID:14500] @@ -174523,6 +176938,7 @@ synonym: "Alpha-L-fucosidase deficiency" EXACT [OMIM:230000, Orphanet:349] synonym: "fucosidosis" EXACT [OMIM:230000] synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473] xref: DOID:14500 {source="MONDO:equivalentTo"} +xref: GARD:6473 {source="Orphanet:349"} xref: ICD10CM:E77.1 {source="Orphanet:349/inclusion", source="Orphanet:349/ntbt", source="Orphanet:349", source="DOID:14500"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005645 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} @@ -174547,7 +176963,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6473/fucosid id: MONDO:0009255 name: galactokinase deficiency def: "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." [Orphanet:79237] -subset: gard_rare {source="GARD:0002422"} +subset: gard_rare {source="GARD:2422"} subset: ordo_disease {source="Orphanet:79237"} synonym: "galactokinase deficiency" EXACT CLINGEN_PREFERRED [OMIM:230200] synonym: "galactokinase deficiency galactosemia" EXACT [Orphanet:79237] @@ -174560,6 +176976,7 @@ synonym: "Galk deficiency" RELATED [OMIM:230200] synonym: "GALK-D" EXACT [Orphanet:79237] synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422] xref: DOID:14695 {source="MONDO:equivalentTo"} +xref: GARD:2422 {source="Orphanet:79237"} xref: ICD10CM:E74.2 {source="Orphanet:79237", source="Orphanet:79237/attributed", source="Orphanet:79237/ntbt"} xref: ICD10CM:E74.29 {source="DOID:14695"} xref: MESH:C535999 {source="Orphanet:79237", source="Orphanet:79237/e"} @@ -174601,7 +177018,7 @@ property_value: IAO:0000589 "galactorrhea (disease)" xsd:string id: MONDO:0009257 name: galactose epimerase deficiency def: "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." [Orphanet:79238] -subset: gard_rare {source="GARD:0005392"} +subset: gard_rare {source="GARD:5392"} subset: ordo_disease {source="Orphanet:79238"} synonym: "epimerase deficiency galactosemia" EXACT [Orphanet:79238] synonym: "galactose epimerase deficiency" EXACT [OMIM:230350] @@ -174613,6 +177030,7 @@ synonym: "GALE-D" EXACT [Orphanet:79238] synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:79238] synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238] xref: DOID:0111458 {source="MONDO:equivalentTo"} +xref: GARD:5392 {source="Orphanet:79238"} xref: ICD10CM:E74.2 {source="Orphanet:79238", source="Orphanet:79238/attributed", source="Orphanet:79238/ntbt"} xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="Orphanet:79238/e"} xref: Orphanet:352 {source="OMIM:230350"} @@ -174630,6 +177048,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5392/galacto id: MONDO:0009258 name: classic galactosemia def: "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." [Orphanet:79239] +subset: gard_rare {source="GARD:13639"} subset: ordo_disease {source="Orphanet:79239"} synonym: "classic galactosemia" EXACT CLINGEN_PREFERRED [] synonym: "classical galactosemia, homozygous duarte-type" NARROW [] @@ -174643,6 +177062,7 @@ synonym: "GALT deficiency" EXACT [Orphanet:79239] synonym: "Galt deficiency" RELATED [OMIM:230400] synonym: "transferase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] xref: DOID:0111459 {source="MONDO:equivalentTo"} +xref: GARD:13639 {source="Orphanet:79239"} xref: ICD10CM:E74.2 {source="Orphanet:79239/attributed", source="Orphanet:79239/ntbt", source="Orphanet:79239"} xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="Orphanet:79239/e"} xref: Orphanet:352 {source="OMIM:230400"} @@ -174664,6 +177084,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009259 name: gamma-glutamylcysteine synthetase deficiency def: "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." [Orphanet:33574] +subset: gard_rare {source="GARD:16631"} subset: ordo_disease {source="Orphanet:33574"} synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" EXACT [OMIM:230450] @@ -174674,6 +177095,7 @@ synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patte synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574] synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111681 {source="MONDO:equivalentTo"} +xref: GARD:16631 {source="Orphanet:33574"} xref: ICD10CM:D55.1 {source="Orphanet:33574/attributed", source="Orphanet:33574/ntbt", source="Orphanet:33574"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565557 {source="MONDO:equivalentTo"} @@ -174694,7 +177116,7 @@ id: MONDO:0009260 name: GM1 gangliosidosis type 1 alt_id: MONDO:0023211 def: "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." [Orphanet:79255] -subset: gard_rare +subset: gard_rare {source="GARD:6479"} subset: ordo_clinical_subtype {source="Orphanet:79255"} synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479] synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500] @@ -174716,6 +177138,7 @@ synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [OMIM:23 synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255] synonym: "Norman-Landing disease" EXACT [Orphanet:79255] xref: DOID:0080502 {source="MONDO:equivalentTo"} +xref: GARD:6479 {source="Orphanet:79255"} xref: ICD10CM:E75.1 {source="Orphanet:79255/attributed", source="Orphanet:79255/ntbt", source="Orphanet:79255"} xref: OMIM:230500 {source="GARD:0006479", source="Orphanet:79255/e", source="MONDO:equivalentTo", source="Orphanet:79255"} xref: Orphanet:354 {source="OMIM:230500"} @@ -174736,7 +177159,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6479/gm1-gan id: MONDO:0009261 name: GM1 gangliosidosis type 2 def: "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." [Orphanet:79256] -subset: gard_rare {source="GARD:0010126"} +subset: gard_rare {source="GARD:10126"} subset: ordo_clinical_subtype {source="Orphanet:79256"} synonym: "gangliosidosis generalised GM1 juvenile type" RELATED OMO:0003005 [] synonym: "gangliosidosis generalised GM1 type 2" RELATED OMO:0003005 [] @@ -174753,6 +177176,7 @@ synonym: "GM1-gangliosidosis, type II" RELATED [OMIM:230600] synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256] synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256] xref: DOID:0080501 {source="MONDO:equivalentTo"} +xref: GARD:10126 {source="Orphanet:79256"} xref: ICD10CM:E75.1 {source="Orphanet:79256/attributed", source="Orphanet:79256/ntbt", source="Orphanet:79256"} xref: OMIM:230600 {source="Orphanet:79256/e", source="MONDO:equivalentTo", source="Orphanet:79256"} xref: Orphanet:354 {source="OMIM:230600"} @@ -174769,7 +177193,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10126/gm1-ga id: MONDO:0009262 name: GM1 gangliosidosis type 3 def: "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." [Orphanet:79257] -subset: gard_rare {source="GARD:0002431"} +subset: gard_rare {source="GARD:2431"} subset: ordo_clinical_subtype {source="Orphanet:79257"} synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431] synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257] @@ -174786,6 +177210,7 @@ synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650] synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650] synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650] xref: DOID:0080489 {source="MONDO:equivalentTo"} +xref: GARD:2431 {source="Orphanet:79257"} xref: ICD10CM:E75.1 {source="Orphanet:79257/attributed", source="Orphanet:79257/ntbt", source="Orphanet:79257"} xref: OMIM:230650 {source="Orphanet:79257/e", source="MONDO:equivalentTo", source="Orphanet:79257"} xref: Orphanet:354 {source="OMIM:230650"} @@ -174801,13 +177226,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2431/gm1-gan id: MONDO:0009263 name: GAPO syndrome def: "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations" [Orphanet:2067] -subset: gard_rare {source="GARD:0000400"} +subset: gard_rare {source="GARD:400"} subset: ordo_malformation_syndrome {source="Orphanet:2067"} synonym: "gapo syndrome" EXACT [OMIM:230740] synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [Orphanet:2067] synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400] synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740] xref: DOID:0112249 {source="MONDO:equivalentTo"} +xref: GARD:400 {source="Orphanet:2067"} xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="Orphanet:2067/attributed", source="Orphanet:2067/ntbt"} xref: MESH:C535642 {source="MONDO:equivalentTo"} xref: OMIM:230740 {source="Orphanet:2067", source="MONDO:equivalentTo", source="Orphanet:2067/e"} @@ -174827,7 +177253,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/400/gapo-syn id: MONDO:0009264 name: gastroschisis def: "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." [Orphanet:2368] -subset: gard_rare {source="GARD:0008661"} +subset: gard_rare {source="GARD:8661"} subset: ordo_morphological_anomaly {source="Orphanet:2368"} synonym: "abdominal wall defects" RELATED [OMIM:230750] synonym: "congenital fissure of the abdominal cavity" RELATED [GARD:0008661] @@ -174836,6 +177262,7 @@ synonym: "gastroschisis" EXACT [OMIM:230750] synonym: "laparoschisis" EXACT [Orphanet:2368] xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"} xref: EFO:1000949 {source="MONDO:equivalentTo"} +xref: GARD:8661 {source="Orphanet:2368"} xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"} xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="Orphanet:2368/e"} @@ -174854,6 +177281,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8661/gastros id: MONDO:0009265 name: Gaucher disease type I def: "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." [Orphanet:77259] +subset: gard_rare {source="GARD:2441"} subset: ordo_clinical_subtype {source="Orphanet:77259"} synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957] synonym: "Gaucher disease type 1" RELATED [Orphanet:77259] @@ -174868,6 +177296,7 @@ synonym: "GD I" EXACT [DOID:0110957] synonym: "glucocerebrosidase deficiency" RELATED EXCLUDE [DOID:0110957] synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259] xref: DOID:0110957 {source="MONDO:equivalentTo"} +xref: GARD:2441 {source="Orphanet:77259"} xref: ICD10CM:E75.2 {source="Orphanet:77259/attributed", source="Orphanet:77259/ntbt", source="Orphanet:77259", source="DOID:0110957"} xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="Orphanet:77259/e"} xref: Orphanet:355 {source="OMIM:230800"} @@ -174885,6 +177314,7 @@ property_value: confidence "2.0000000000000004" xsd:double id: MONDO:0009266 name: Gaucher disease type II def: "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." [Orphanet:77260] +subset: gard_rare {source="GARD:2442"} subset: ordo_clinical_subtype {source="Orphanet:77260"} synonym: "acute neuronopathic Gaucher disease" EXACT [Orphanet:77260] synonym: "Gaucher disease type 2" RELATED [Orphanet:77260] @@ -174898,6 +177328,7 @@ synonym: "Gd 2" RELATED [OMIM:230900] synonym: "GD II" EXACT [DOID:0110958] synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260] xref: DOID:0110958 {source="MONDO:equivalentTo"} +xref: GARD:2442 {source="Orphanet:77260"} xref: ICD10CM:E75.2 {source="DOID:0110958", source="Orphanet:77260", source="Orphanet:77260/attributed", source="Orphanet:77260/ntbt"} xref: OMIM:230900 {source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260", source="Orphanet:77260/e"} xref: Orphanet:355 {source="OMIM:230900"} @@ -174917,6 +177348,7 @@ property_value: confidence "2.0000000000000004" xsd:double id: MONDO:0009267 name: Gaucher disease type III def: "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." [Orphanet:77261] +subset: gard_rare {source="GARD:2443"} subset: ordo_clinical_subtype {source="Orphanet:77261"} synonym: "cerebral juvenile and adult form of Gaucher disease" EXACT [Orphanet:77261] synonym: "chronic neuronopathic Gaucher disease" EXACT [Orphanet:77261] @@ -174935,6 +177367,7 @@ synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003. synonym: "Gd 3" RELATED [OMIM:231000] synonym: "GD III" EXACT [DOID:0110959] xref: DOID:0110959 {source="MONDO:equivalentTo"} +xref: GARD:2443 {source="Orphanet:77261"} xref: ICD10CM:E75.2 {source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/attributed", source="Orphanet:77261/ntbt"} xref: OMIM:231000 {source="MONDO:equivalentTo", source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/e"} xref: Orphanet:355 {source="OMIM:231000"} @@ -174961,7 +177394,7 @@ property_value: confidence "2.0000000000000004" xsd:double id: MONDO:0009268 name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome def: "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." [Orphanet:2072] -subset: gard_rare +subset: gard_rare {source="GARD:12504"} subset: ordo_clinical_subtype {source="Orphanet:2072"} synonym: "cardiovascular Gaucher disease" EXACT [Orphanet:2072] synonym: "Gaucher disease - ophthalmoplegia - cardiovascular calcification" RELATED [GARD:0012504] @@ -174972,6 +177405,7 @@ synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" synonym: "Gaucher-like disease" EXACT [Orphanet:2072] synonym: "pseudo Gaucher disease" RELATED [GARD:0002445] xref: DOID:0112250 {source="MONDO:equivalentTo"} +xref: GARD:12504 {source="Orphanet:2072"} xref: ICD10CM:E75.2 {source="Orphanet:2072", source="Orphanet:2072/attributed", source="Orphanet:2072/ntbt"} xref: MESH:C565553 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:231005 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"} @@ -174987,6 +177421,7 @@ property_value: confidence "2.0000000000000004" xsd:double id: MONDO:0009269 name: geleophysic dysplasia 1 def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15172"} synonym: "ADAMTSL2 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GELEOPHYSIC dysplasia 1" RELATED [OMIM:231050] synonym: "geleophysic dysplasia 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:231050] @@ -174994,6 +177429,7 @@ synonym: "geleophysic dysplasia caused by mutation in ADAMTSL2" EXACT [MONDO:des synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1, OMIM:231050] synonym: "GPHYSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231050] xref: DOID:0111725 {source="MONDO:equivalentTo"} +xref: GARD:15172 {source="OMIM:231050"} xref: OMIM:231050 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:231050"} xref: UMLS:C3278147 {source="OMIM:231050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -175009,12 +177445,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009270 name: genito-palato-cardiac syndrome def: "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." [Orphanet:2075] -subset: gard_rare {source="GARD:0002460"} +subset: gard_rare {source="GARD:2460"} subset: ordo_malformation_syndrome {source="Orphanet:2075"} synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [OMIM:231060, Orphanet:2075] synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460] synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060] synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060] +xref: GARD:2460 {source="Orphanet:2075"} xref: ICD10CM:Q87.8 {source="Orphanet:2075/attributed", source="Orphanet:2075/ntbt", source="Orphanet:2075"} xref: MESH:C537683 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: OMIM:231060 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} @@ -175030,7 +177467,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2460/genito- id: MONDO:0009271 name: geroderma osteodysplastica def: "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." [Orphanet:2078] -subset: gard_rare {source="GARD:0000413"} +subset: gard_rare {source="GARD:413"} subset: ordo_malformation_syndrome {source="Orphanet:2078"} synonym: "geroderma osteodysplastica" EXACT CLINGEN_PREFERRED [] synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical, OMIM:231070] @@ -175039,6 +177476,7 @@ synonym: "Gerodermia osteodysplastica" RELATED [OMIM:231070] synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231070] synonym: "Walt Disney dwarfism" RELATED [OMIM:231070] xref: DOID:0111266 {source="MONDO:equivalentTo"} +xref: GARD:413 {source="Orphanet:2078"} xref: ICD10CM:Q82.8 {source="Orphanet:2078", source="Orphanet:2078/attributed", source="Orphanet:2078/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537799 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"} @@ -175059,8 +177497,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/413/geroderm id: MONDO:0009272 name: German syndrome def: "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." [Orphanet:2077] +subset: gard_rare {source="GARD:2462"} subset: ordo_malformation_syndrome {source="Orphanet:2077"} synonym: "German syndrome" EXACT [OMIM:231080] +xref: GARD:2462 {source="Orphanet:2077"} xref: ICD10CM:Q87.8 {source="Orphanet:2077", source="Orphanet:2077/attributed", source="Orphanet:2077/ntbt"} xref: MESH:C562543 {source="MONDO:equivalentTo"} xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="Orphanet:2077/e"} @@ -175078,6 +177518,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009273 name: hydatidiform mole, recurrent, 1 def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18365"} synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern] synonym: "gestational trophoblastic disease" RELATED [OMIM:231090] synonym: "hydatidiform mole" RELATED [OMIM:231090] @@ -175087,6 +177528,7 @@ synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090] synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090] synonym: "HYDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231090] synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18365 {source="OMIM:231090"} xref: OMIM:231090 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="OMIM:231090"} xref: Orphanet:99927 {source="OMIM:231090"} @@ -175103,7 +177545,7 @@ property_value: confidence "2.5555555555555554" xsd:double id: MONDO:0009274 name: ghosal hematodiaphyseal dysplasia def: "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." [Orphanet:1802] -subset: gard_rare +subset: gard_rare {source="GARD:10297"} subset: ordo_malformation_syndrome {source="Orphanet:1802"} synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [Orphanet:1802] synonym: "GHDD" RELATED ABBREVIATION [GARD:0010297, MONDO:Lexical, OMIM:231095] @@ -175113,6 +177555,7 @@ synonym: "Ghosal hematodiaphyseal dysplasia syndrome" RELATED [GARD:0010297] synonym: "Ghosal hematodiaphyseal syndrome" EXACT [OMIM:231095, OMIM:genemap2] synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802] xref: DOID:0112251 {source="MONDO:equivalentTo"} +xref: GARD:10297 {source="Orphanet:1802"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565551 {source="MONDO:equivalentTo"} xref: OMIM:231095 {source="Orphanet:1802/e", source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802"} @@ -175134,7 +177577,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10297/ghosal id: MONDO:0009275 name: neonatal hemochromatosis def: "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" [https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis] -subset: gard_rare {source="GARD:0007172"} +subset: gard_rare {source="GARD:7172"} subset: ordo_disease {source="Orphanet:446"} synonym: "alloimmune Hepatitis, congenital" RELATED [OMIM:231100] synonym: "giant cell Hepatitis" RELATED [OMIM:231100] @@ -175148,6 +177591,7 @@ synonym: "neonatal hepatitis (formerly)" RELATED [GARD:0007172] synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100] synonym: "Nh" RELATED [OMIM:231100] synonym: "Nhc" RELATED [OMIM:231100] +xref: GARD:7172 {source="Orphanet:446"} xref: ICD10CM:E83.1 {source="Orphanet:446/attributed", source="Orphanet:446/ntbt", source="Orphanet:446"} xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"} xref: NCIT:C129980 {source="MONDO:equivalentTo"} @@ -175165,6 +177609,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7172/neonata id: MONDO:0009276 name: Bernard-Soulier syndrome def: "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." [Orphanet:274] +subset: gard_rare {source="GARD:2470"} subset: ordo_disease {source="Orphanet:274"} synonym: "Bernard - Soulier thrombopathy" EXACT [DOID:2217] synonym: "Bernard Soulier syndrome" EXACT [DOID:2217] @@ -175188,6 +177633,7 @@ synonym: "Platelet glycoprotein Ib deficiency" RELATED [OMIM:231200] synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217] synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200] xref: DOID:2217 {source="MONDO:equivalentTo"} +xref: GARD:2470 {source="Orphanet:274"} xref: ICD10CM:D69.1 {source="Orphanet:274/inclusion", source="Orphanet:274", source="Orphanet:274/ntbt"} xref: MedDRA:10057473 {source="Orphanet:274/e", source="Orphanet:274"} xref: MESH:D001606 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} @@ -175211,6 +177657,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009277 name: glaucoma 3A def: "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." [NCIT:C148260] +subset: gard_rare {source="GARD:2485", source="GARD:18224"} synonym: "buphthalmos" BROAD [DOID:11211, OMIM:231300] synonym: "glaucoma 3, primary congenital, A" RELATED [MONDO:Lexical, OMIM:231300] synonym: "glaucoma 3, primary congenital, type a" EXACT [MONDORULE:1, OMIM:231300] @@ -175222,6 +177669,8 @@ synonym: "GLC3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231300] synonym: "Primary Congenital glaucoma 3A" EXACT [NCIT:C148260] synonym: "simple buphthalmos" EXACT [DOID:11211] xref: DOID:11211 {source="MONDO:equivalentTo"} +xref: GARD:18224 {source="OMIM:231300"} +xref: GARD:2485 {source="Orphanet:98976"} xref: ICD9:743.21 {source="DOID:11211"} xref: NCIT:C148260 {source="MONDO:equivalentTo"} xref: OMIM:231300 {source="MONDO:equivalentTo", source="DOID:11211"} @@ -175254,7 +177703,7 @@ replaced_by: MONDO:0012382 id: MONDO:0009279 name: triple-A syndrome def: "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." [Orphanet:869] -subset: gard_rare {source="GARD:0000457"} +subset: gard_rare {source="GARD:457"} subset: ordo_disease {source="Orphanet:869"} synonym: "2A syndrome" EXACT [Orphanet:869] synonym: "3A syndrome" EXACT [Orphanet:869] @@ -175282,6 +177731,7 @@ synonym: "triple A syndrome" RELATED [GARD:0000457] synonym: "triple-a syndrome" EXACT [OMIM:231550] xref: DOID:0050602 {source="MONDO:equivalentTo"} xref: EFO:1001997 {source="MONDO:equivalentTo"} +xref: GARD:457 {source="Orphanet:869"} xref: ICD10CM:E27.4 {source="Orphanet:869", source="Orphanet:869/attributed", source="Orphanet:869/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536008 {source="MONDO:equivalentTo", source="Orphanet:869", source="Orphanet:869/e"} @@ -175319,6 +177769,7 @@ is_a: MONDO:0003847 {source="MESH:C562377/inferred"} ! hereditary disease id: MONDO:0009281 name: glutaryl-CoA dehydrogenase deficiency def: "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." [Orphanet:25] +subset: gard_rare {source="GARD:6522"} subset: ordo_disease {source="Orphanet:25"} synonym: "Ga 1" RELATED [OMIM:231670] synonym: "GA1" EXACT ABBREVIATION [Orphanet:25] @@ -175336,6 +177787,7 @@ synonym: "glutaricaciduria, type I" EXACT [OMIM:231670, OMIM:genemap2] synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [OMIM:231670] synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25] xref: DOID:0111254 {source="MONDO:equivalentTo"} +xref: GARD:6522 {source="Orphanet:25"} xref: ICD10CM:E72.3 {source="Orphanet:25/ntbt", source="MONDO:relatedTo", source="Orphanet:25/inclusion", source="Orphanet:25"} xref: MESH:C536833 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"} xref: NCIT:C99101 {source="MONDO:equivalentTo"} @@ -175357,6 +177809,7 @@ id: MONDO:0009282 name: multiple acyl-CoA dehydrogenase deficiency def: "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." [https://doi.org/10.1016/B978-0-323-40139-5.00087-5, https://github.com/monarch-initiative/mondo/issues/1569, Orphanet:26791] comment: Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). {source="OMIM:231680"} +subset: gard_rare {source="GARD:6523"} subset: ordo_disease {source="Orphanet:26791"} synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [DOID:0060358] @@ -175383,6 +177836,7 @@ synonym: "MADD" EXACT ABBREVIATION [DOID:0060358, MONDO:Lexical, OMIM:231680, Or synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907] synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:231680] xref: DOID:0060358 {source="MONDO:equivalentTo"} +xref: GARD:6523 {source="Orphanet:26791"} xref: ICD10CM:E71.3 {source="Orphanet:26791", source="Orphanet:26791/attributed", source="Orphanet:26791/ntbt"} xref: ICD10CM:E71.313 {source="DOID:0060358"} xref: MESH:D054069 {source="DOID:0060358"} @@ -175414,7 +177868,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009283 name: glutaric acidemia type 3 def: "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." [Orphanet:35706] -subset: gard_rare {source="GARD:0012469"} +subset: gard_rare {source="GARD:12469"} subset: ordo_disease {source="Orphanet:35706"} synonym: "Ga 3" RELATED [OMIM:231690] synonym: "GA III" RELATED [GARD:0012469] @@ -175430,6 +177884,7 @@ synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706] synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690] synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0112246 {source="MONDO:equivalentTo"} +xref: GARD:12469 {source="Orphanet:35706"} xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="Orphanet:35706", source="Orphanet:35706/attributed", source="Orphanet:35706/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562818 {source="MONDO:equivalentTo"} @@ -175450,6 +177905,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12469/glutar [Term] id: MONDO:0009284 name: glutathione synthetase deficiency without 5-oxoprolinuria +subset: gard_rare {source="GARD:17331"} subset: ordo_clinical_subtype {source="Orphanet:289849"} synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900] @@ -175457,6 +177913,7 @@ synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900] synonym: "hemolytic anaemia due to glutathione synthetase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2] xref: DOID:0112252 {source="MONDO:equivalentTo"} +xref: GARD:17331 {source="Orphanet:289849"} xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"} xref: MESH:C565545 {source="MONDO:equivalentTo"} xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", source="Orphanet:289849"} @@ -175474,6 +177931,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009285 name: gamma-glutamyl transpeptidase deficiency def: "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." [Orphanet:33573] +subset: gard_rare {source="GARD:10099"} subset: ordo_disease {source="Orphanet:33573"} synonym: "gamma-glutamyltransferase deficiency" RELATED [OMIM:231950] synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [OMIM:231950] @@ -175486,6 +177944,7 @@ synonym: "inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/ synonym: "inborn glutathione hydrolase activity disorder" EXACT [] synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111257 {source="MONDO:equivalentTo"} +xref: GARD:10099 {source="Orphanet:33573"} xref: ICD10CM:E72.8 {source="Orphanet:33573/attributed", source="Orphanet:33573/ntbt", source="Orphanet:33573"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536836 {source="MONDO:equivalentTo"} @@ -175505,7 +177964,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009286 name: gluteal muscles, absence of -subset: gard_rare synonym: "absence of gluteal muscle" RELATED [GARD:0008518] synonym: "congenital absence of gluteal muscles" RELATED [GARD:0008518] synonym: "gluteal muscle, absence of" RELATED [GARD:0008518] @@ -175520,6 +177978,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8518/absence id: MONDO:0009287 name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." [Orphanet:79258] +subset: gard_rare {source="GARD:7864"} subset: ordo_clinical_subtype {source="Orphanet:79258"} synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258] synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -175546,6 +178005,7 @@ synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200] synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200] synonym: "Von Gierke disease" RELATED [OMIM:232200] xref: DOID:2749 {source="MONDO:equivalentTo"} +xref: GARD:7864 {source="Orphanet:79258"} xref: ICD10CM:E74.0 {source="Orphanet:79258/attributed", source="Orphanet:79258/ntbt", source="Orphanet:79258"} xref: MESH:C538655 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:232200 {source="Orphanet:79258/e", source="MONDO:equivalentTo", source="Orphanet:79258"} @@ -175570,6 +178030,7 @@ id: MONDO:0009288 name: glycogen storage disease Ib def: "A type of glycogenosis due to G6P deficiency." [Orphanet:79259] comment: Type Ic was merged with Ib because they involve the same gene. +subset: gard_rare {source="GARD:2515", source="GARD:15173"} subset: ordo_clinical_subtype {source="Orphanet:79259"} synonym: "G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "G6P translocase deficiency" EXACT [Orphanet:79259] @@ -175599,6 +178060,8 @@ synonym: "Gsd1C" RELATED [OMIM:232240] synonym: "GSDIb" EXACT [Orphanet:79259] xref: DOID:0081330 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081331 {source="MONDO:equivalentTo"} +xref: GARD:15173 {source="OMIM:232240"} +xref: GARD:2515 {source="Orphanet:79259"} xref: ICD10CM:E74.0 {source="Orphanet:79259", source="Orphanet:79259/attributed", source="Orphanet:79259/ntbt"} xref: MESH:C562594 {source="MONDO:equivalentTo"} xref: NCIT:C122661 {source="MONDO:equivalentTo"} @@ -175632,7 +178095,7 @@ id: MONDO:0009290 name: glycogen storage disease II def: "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." [Orphanet:365] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:5714"} subset: ordo_disease {source="Orphanet:365"} synonym: "acid maltase deficiency" EXACT [DOID:2752, OMIM:232300] synonym: "acid maltase deficiency disease" RELATED [GARD:0005714] @@ -175671,6 +178134,7 @@ synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [DOID:2752] synonym: "Pompe disease" EXACT [OMIM:232300, Orphanet:365] synonym: "Pompe's disease" EXACT [DOID:2752] xref: DOID:2752 {source="MONDO:equivalentTo"} +xref: GARD:5714 {source="Orphanet:365"} xref: ICD10CM:E74.0 {source="Orphanet:365/ntbt", source="Orphanet:365/inclusion", source="Orphanet:365"} xref: ICD10CM:E74.02 {source="DOID:2752"} xref: MedDRA:10053185 {source="Orphanet:365/e", source="Orphanet:365"} @@ -175702,6 +178166,7 @@ property_value: confidence "12.055555555555555" xsd:double id: MONDO:0009291 name: glycogen storage disease III def: "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." [Orphanet:366] +subset: gard_rare {source="GARD:9442"} subset: ordo_disease {source="Orphanet:366"} synonym: "Agl deficiency" RELATED [OMIM:232400] synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -175735,6 +178200,7 @@ synonym: "GSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232400] synonym: "GSDIII" EXACT ABBREVIATION [Orphanet:366] synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366] xref: DOID:2748 {source="MONDO:equivalentTo"} +xref: GARD:9442 {source="Orphanet:366"} xref: ICD10CM:E74.0 {source="Orphanet:366/ntbt", source="Orphanet:366/inclusion", source="Orphanet:366"} xref: ICD10CM:E74.03 {source="DOID:2748"} xref: MedDRA:10053250 {source="Orphanet:366/e", source="Orphanet:366"} @@ -175762,6 +178228,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009292 name: glycogen storage disease due to glycogen branching enzyme deficiency def: "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." [Orphanet:367] +subset: gard_rare {source="GARD:2520"} subset: ordo_disease {source="Orphanet:367"} synonym: "amylopectinosis" EXACT [DOID:2750, OMIM:232500, Orphanet:367] synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367] @@ -175798,6 +178265,7 @@ synonym: "GSD type 4" EXACT [Orphanet:367] synonym: "GSD type IV" EXACT [Orphanet:367] synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232500] xref: DOID:2750 {source="MONDO:equivalentTo"} +xref: GARD:2520 {source="Orphanet:367"} xref: ICD10CM:E74.0 {source="Orphanet:367", source="Orphanet:367/ntbt", source="Orphanet:367/inclusion"} xref: ICD10CM:E74.09 {source="DOID:2750"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -175832,6 +178300,7 @@ property_value: confidence "0.2757499999999997" xsd:double id: MONDO:0009293 name: glycogen storage disease V def: "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." [Orphanet:368] +subset: gard_rare {source="GARD:6528"} subset: ordo_disease {source="Orphanet:368"} synonym: "glycogen storage disease 5" RELATED [OMIM:232600] synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern] @@ -175857,6 +178326,7 @@ synonym: "myophosphorylase deficiency" EXACT [DOID:2746, OMIM:232600, Orphanet:3 synonym: "Pygm deficiency" RELATED [OMIM:232600] synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2746 {source="MONDO:equivalentTo"} +xref: GARD:6528 {source="Orphanet:368"} xref: ICD10CM:E74.0 {source="Orphanet:368", source="Orphanet:368/ntbt", source="Orphanet:368/inclusion"} xref: ICD10CM:E74.04 {source="DOID:2746"} xref: MedDRA:10018462 {source="Orphanet:368", source="Orphanet:368/e"} @@ -175879,6 +178349,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009294 name: glycogen storage disease VI def: "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." [Orphanet:369] +subset: gard_rare {source="GARD:6529"} subset: ordo_disease {source="Orphanet:369"} synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700] synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern] @@ -175903,6 +178374,7 @@ synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700] synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2754 {source="MONDO:equivalentTo"} +xref: GARD:6529 {source="Orphanet:369"} xref: ICD10CM:E74.0 {source="Orphanet:369/ntbt", source="Orphanet:369", source="Orphanet:369/inclusion"} xref: ICD10CM:E74.09 {source="DOID:2754"} xref: MedDRA:10053240 {source="Orphanet:369", source="Orphanet:369/e"} @@ -175927,6 +178399,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009295 name: glycogen storage disease VII def: "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." [Orphanet:371] +subset: gard_rare {source="GARD:5686"} subset: ordo_disease {source="Orphanet:371"} synonym: "glycogen storage disease 7" RELATED [OMIM:232800] synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern] @@ -175951,6 +178424,7 @@ synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437] synonym: "phosphofructokinase myopathy" EXACT [DOID:11721] synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371] xref: DOID:11721 {source="MONDO:equivalentTo"} +xref: GARD:5686 {source="Orphanet:371"} xref: ICD10CM:E74.0 {source="Orphanet:371/inclusion", source="Orphanet:371", source="Orphanet:371/ntbt"} xref: ICD10CM:E74.09 {source="DOID:11721"} xref: MedDRA:10053241 {source="Orphanet:371", source="Orphanet:371/e"} @@ -175988,7 +178462,7 @@ is_a: MONDO:0003847 {source="MESH:C565538/inferred"} ! hereditary disease id: MONDO:0009297 name: familial renal glucosuria def: "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." [Orphanet:69076] -subset: gard_rare {source="GARD:0007548"} +subset: gard_rare {source="GARD:7548"} subset: ordo_disease {source="Orphanet:69076"} synonym: "familial renal glucosuria" EXACT [Orphanet:69076] synonym: "glycosuria, renal" RELATED [OMIM:233100] @@ -176000,6 +178474,7 @@ synonym: "renal glycosuria" RELATED [DOID:9432, GARD:0007548] synonym: "SGLT2 deficiency" EXACT [Orphanet:69076] xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"} xref: EFO:1001151 {source="MONDO:equivalentTo"} +xref: GARD:7548 {source="Orphanet:69076"} xref: ICD10CM:E74.8 {source="Orphanet:69076/inclusion", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/ntbt"} xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9432"} xref: MedDRA:10038457 {source="EFO:1001151"} @@ -176038,6 +178513,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009299 name: 46 XX gonadal dysgenesis def: "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." [Orphanet:243] +subset: gard_rare {source="GARD:5671"} subset: ordo_malformation_syndrome {source="Orphanet:243"} synonym: "46,XX complete gonadal dysgenesis" EXACT [Orphanet:243] synonym: "46,XX gonadal dysgenesis" EXACT [NCIT:C120197] @@ -176051,6 +178527,7 @@ synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243] synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] synonym: "XX-GD" EXACT [Orphanet:243] xref: DOID:14450 {source="MONDO:equivalentTo"} +xref: GARD:5671 {source="Orphanet:243"} xref: ICD10CM:Q99.1 {source="Orphanet:243/e", source="Orphanet:243/specific", source="Orphanet:243"} xref: MESH:D023961 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:equivalentTo", source="Orphanet:243"} xref: NCIT:C120197 {source="DOID:14450", source="MONDO:equivalentTo"} @@ -176090,6 +178567,7 @@ property_value: confidence "1.4822000130642108" xsd:double [Term] id: MONDO:0009301 name: 46,XY sex reversal 7 +subset: gard_rare {source="GARD:15174"} synonym: "46,XY gonadal dysgenesis, partial or complete, Dhh-related" RELATED [OMIM:233420] synonym: "46,XY SEX reversal 7" RELATED [OMIM:233420] synonym: "46,XY sex reversal 7" EXACT [MONDO:Lexical, OMIM:233420] @@ -176099,6 +178577,7 @@ synonym: "46XY sex reversal 7" EXACT [OMIM:233420, OMIM:genemap2] synonym: "gonadal dysgenesis, XY, Male-limited" RELATED [OMIM:233420] synonym: "SRXY7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233420] xref: DOID:0111774 {source="MONDO:equivalentTo"} +xref: GARD:15174 {source="OMIM:233420"} xref: MESH:C565537 {source="MONDO:equivalentTo"} xref: OMIM:233420 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:233420"} @@ -176112,11 +178591,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009302 name: XY type gonadal dysgenesis-associated anomalies syndrome def: "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." [Orphanet:1770] -subset: gard_rare +subset: gard_rare {source="GARD:2541"} subset: ordo_malformation_syndrome {source="Orphanet:1770"} synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541] synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430] synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430] +xref: GARD:2541 {source="Orphanet:1770"} xref: ICD10CM:Q99.1 {source="Orphanet:1770", source="Orphanet:1770/attributed", source="Orphanet:1770/ntbt"} xref: MESH:C565536 {source="MONDO:equivalentTo"} xref: OMIM:233430 {source="Orphanet:1770", source="MONDO:equivalentObsolete", source="Orphanet:1770/e"} @@ -176129,7 +178609,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2541/gonadal id: MONDO:0009303 name: anti-glomerular basement membrane disease def: "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." [https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome] -subset: gard_rare {source="GARD:0002551"} +subset: gard_rare {source="GARD:2551"} subset: ordo_disease {source="Orphanet:375"} synonym: "anti-GBM syndrome" EXACT [Orphanet:375] synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551] @@ -176142,6 +178622,7 @@ synonym: "rapidly progressive glomerulonephritis with pulmonary haemorrhage" REL synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551] xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"} xref: EFO:0007290 {source="MONDO:equivalentTo"} +xref: GARD:2551 {source="Orphanet:375"} xref: ICD10CM:M31.0 {source="DOID:9808"} xref: ICD10EXP:M31.0+ {source="Orphanet:375/e", source="Orphanet:375"} xref: ICD10EXP:N08.5* {source="Orphanet:375/e", source="Orphanet:375"} @@ -176191,12 +178672,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009306 name: combined immunodeficiency with skin granulomas +subset: gard_rare {source="GARD:13587"} subset: ordo_disease {source="Orphanet:157949"} synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233650] synonym: "CID due to RAG 1/2 deficiency" EXACT [Orphanet:157949] synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949] xref: DOID:0112253 {source="MONDO:equivalentTo"} +xref: GARD:13587 {source="Orphanet:157949"} xref: ICD10CM:D81.1 {source="Orphanet:157949/attributed", source="Orphanet:157949/ntbt", source="Orphanet:157949"} xref: MESH:C567115 {source="MONDO:equivalentTo"} xref: OMIM:233650 {source="Orphanet:157949/e", source="MONDO:equivalentTo", source="Orphanet:157949"} @@ -176223,12 +178706,14 @@ property_value: confidence "6.142857142857142" xsd:double [Term] id: MONDO:0009308 name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +subset: gard_rare {source="GARD:15175"} synonym: "CGD due to deficiency of the Alpha Subunit of cytochrome B" RELATED [OMIM:233690] synonym: "CGD, autosomal recessive cytochrome B-negative" RELATED [OMIM:233690] synonym: "chronic granulomatous disease 4, autosomal recessive" EXACT [OMIM:233690, OMIM:genemap2] synonym: "Cyba deficiency" RELATED [OMIM:233690] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" EXACT [OMIM:233690] xref: DOID:0070193 {source="MONDO:equivalentTo"} +xref: GARD:15175 {source="OMIM:233690"} xref: MESH:C565533 {source="MONDO:equivalentTo"} xref: OMIM:233690 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233690"} @@ -176242,6 +178727,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009309 name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15176"} synonym: "CDG1" RELATED ABBREVIATION [OMIM:233700] synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [OMIM:233700] synonym: "chronic granulomatous disease 1, autosomal recessive" EXACT [OMIM:233700, OMIM:genemap2] @@ -176256,6 +178742,7 @@ synonym: "p47-PHOX, deficiency of" RELATED [OMIM:233700] synonym: "Soc2, deficiency of" RELATED [OMIM:233700] synonym: "soluble oxidase component II, deficiency of" RELATED [OMIM:233700] xref: DOID:0070192 {source="MONDO:equivalentTo"} +xref: GARD:15176 {source="OMIM:233700"} xref: MESH:C565532 {source="MONDO:equivalentTo"} xref: OMIM:233700 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233700"} @@ -176271,6 +178758,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009310 name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15177"} synonym: "CDG2" RELATED ABBREVIATION [OMIM:233710] synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [OMIM:233710] synonym: "chronic granulomatous disease 2, autosomal recessive" EXACT [OMIM:233710, OMIM:genemap2] @@ -176283,6 +178771,7 @@ synonym: "Ncf2, deficiency of" RELATED [OMIM:233710] synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [OMIM:233710] synonym: "P67-PHOX, deficiency of" RELATED [OMIM:233710] xref: DOID:0070191 {source="MONDO:equivalentTo"} +xref: GARD:15177 {source="OMIM:233710"} xref: MESH:C565531 {source="MONDO:equivalentTo"} xref: OMIM:233710 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233710"} @@ -176309,6 +178798,7 @@ is_a: MONDO:0003847 {source="MESH:C565530/inferred"} ! hereditary disease id: MONDO:0009312 name: lipodystrophy due to peptidic growth factors deficiency def: "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." [Orphanet:1979] +subset: gard_rare {source="GARD:12604"} subset: ordo_disease {source="Orphanet:1979"} synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [Orphanet:1979] synonym: "growth factors, combined defect OF" RELATED [OMIM:233805] @@ -176319,6 +178809,7 @@ synonym: "peptide growth factors deficiency" RELATED [GARD:0004280] synonym: "peptidic growth factors deficiency" RELATED [GARD:0004280] synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [OMIM:233805] synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979] +xref: GARD:12604 {source="Orphanet:1979"} xref: ICD10CM:E88.1 {source="Orphanet:1979/attributed", source="Orphanet:1979/ntbt", source="Orphanet:1979"} xref: MESH:C565529 {source="MONDO:equivalentTo"} xref: OMIM:233805 {source="Orphanet:1979/e", source="MONDO:equivalentTo", source="Orphanet:1979"} @@ -176333,13 +178824,14 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0009313 name: Grubben-de Cock-Borghgraef syndrome def: "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." [Orphanet:2101] -subset: gard_rare {source="GARD:0002576"} +subset: gard_rare {source="GARD:2576"} subset: ordo_malformation_syndrome {source="Orphanet:2101"} synonym: "developmental delay - hypotonia - extremities hypertrophy" RELATED [GARD:0002576] synonym: "developmental delay-hypotonia-extremities hypertrophy syndrome" EXACT [Orphanet:2101] synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [OMIM:233810] synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576] synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576] +xref: GARD:2576 {source="Orphanet:2101"} xref: ICD10CM:Q87.8 {source="Orphanet:2101/attributed", source="Orphanet:2101/ntbt", source="Orphanet:2101"} xref: MESH:C537621 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} xref: OMIM:233810 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} @@ -176365,7 +178857,7 @@ replaced_by: MONDO:0100186 id: MONDO:0009315 name: congenital factor XII deficiency def: "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." [Orphanet:330] -subset: gard_rare {source="GARD:0006558"} +subset: gard_rare {source="GARD:6558"} subset: ordo_disease {source="Orphanet:330"} synonym: "coagulation factor 12 deficiency" RELATED [GARD:0006558] synonym: "congenital factor XII deficiency" EXACT CLINGEN_PREFERRED [] @@ -176378,6 +178870,7 @@ synonym: "factor XII deficiency disease" EXACT [DOID:2231] synonym: "Haf deficiency" RELATED [OMIM:234000] synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000] xref: DOID:2231 {source="MONDO:equivalentTo"} +xref: GARD:6558 {source="Orphanet:330"} xref: ICD10CM:D68.2 {source="Orphanet:330/attributed", source="Orphanet:330/ntbt", source="Orphanet:330"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005175 {source="DOID:2231", source="MONDO:equivalentTo"} @@ -176420,7 +178913,7 @@ consider: MONDO:0018053 id: MONDO:0009318 name: Hallermann-Streiff syndrome def: "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." [Orphanet:2108] -subset: gard_rare {source="GARD:0000288"} +subset: gard_rare {source="GARD:288"} subset: ordo_malformation_syndrome {source="Orphanet:2108"} synonym: "FranC'ois dyscephalic syndrome" EXACT [Orphanet:2108] synonym: "Francois dyscephalic syndrome" EXACT [DOID:4534, OMIM:234100] @@ -176434,6 +178927,7 @@ synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100] synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234100] synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108] xref: DOID:4534 {source="MONDO:equivalentTo"} +xref: GARD:288 {source="Orphanet:2108"} xref: ICD10CM:Q87.0 {source="Orphanet:2108", source="Orphanet:2108/index", source="Orphanet:2108/ntbt"} xref: MESH:D006210 {source="DOID:4534", source="MONDO:equivalentTo"} xref: NCIT:C84746 {source="DOID:4534", source="MONDO:equivalentTo"} @@ -176463,6 +178957,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/288/hallerma id: MONDO:0009319 name: pantothenate kinase-associated neurodegeneration def: "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." [Orphanet:157850] +subset: gard_rare {source="GARD:6564"} subset: ordo_disease {source="Orphanet:157850"} synonym: "brain iron accumulation type I syndrome" BROAD [DOID:3981, NCIT:C8967] synonym: "Hallervorden-Spatz disease" EXACT DEPRECATED [DOID:3981, OMIM:234200] @@ -176476,6 +178971,7 @@ synonym: "pigmentary pallidal degeneration" EXACT [DOID:3981] synonym: "PKAN" EXACT ABBREVIATION [Orphanet:157850] synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200] xref: DOID:3981 {source="MONDO:equivalentTo"} +xref: GARD:6564 {source="Orphanet:157850"} xref: ICD10CM:G23.0 {source="DOID:3981", source="Orphanet:157850", source="Orphanet:157850/e", source="Orphanet:157850/specific"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006211 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"} @@ -176495,11 +178991,13 @@ property_value: confidence "116.50000000000043" xsd:double id: MONDO:0009320 name: Hall-Riggs syndrome def: "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." [Orphanet:2107] +subset: gard_rare {source="GARD:2586"} subset: ordo_malformation_syndrome {source="Orphanet:2107"} synonym: "Hall Riggs intellectual disability syndrome" RELATED [GARD:0002586] synonym: "Hall Riggs mental retardation syndrome" RELATED DEPRECATED [GARD:0002586] synonym: "HALL-Riggs intellectual disability syndrome" RELATED [OMIM:234250] synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [OMIM:234250] +xref: GARD:2586 {source="Orphanet:2107"} xref: ICD10CM:Q87.8 {source="Orphanet:2107", source="Orphanet:2107/attributed", source="Orphanet:2107/ntbt"} xref: MESH:C535623 {source="MONDO:equivalentTo"} xref: OMIM:234250 {source="MONDO:equivalentTo", source="Orphanet:2107", source="Orphanet:2107/e"} @@ -176516,10 +179014,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009321 name: hallux varus-preaxial polysyndactyly syndrome def: "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." [Orphanet:2110] +subset: gard_rare {source="GARD:3118"} subset: ordo_malformation_syndrome {source="Orphanet:2110"} synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280] synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118] synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110] +xref: GARD:3118 {source="Orphanet:2110"} xref: ICD10CM:Q74.2 {source="Orphanet:2110", source="Orphanet:2110/attributed", source="Orphanet:2110/ntbt"} xref: MESH:C536885 {source="MONDO:equivalentTo"} xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="Orphanet:2110/e"} @@ -176551,7 +179051,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009324 name: Hartnup disease def: "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." [Orphanet:2116] -subset: gard_rare {source="GARD:0006569"} +subset: gard_rare {source="GARD:6569"} subset: ordo_disease {source="Orphanet:2116"} synonym: "aminoaciduria, Hartnup type" EXACT [Orphanet:2116] synonym: "deficiency of tryptophan oxygenase" EXACT [DOID:1060] @@ -176561,6 +179061,7 @@ synonym: "HND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234500] synonym: "neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acid transport defect" EXACT [DOID:1060] xref: DOID:1060 {source="MONDO:equivalentTo"} +xref: GARD:6569 {source="Orphanet:2116"} xref: ICD10CM:E72.0 {source="Orphanet:2116/inclusion", source="Orphanet:2116", source="Orphanet:2116/ntbt"} xref: ICD10CM:E72.02 {source="DOID:1060"} xref: MedDRA:10019165 {source="Orphanet:2116", source="Orphanet:2116/e"} @@ -176596,12 +179097,13 @@ replaced_by: MONDO:0100229 id: MONDO:0009326 name: congenital heart block def: "Heart block that occurs on or before 28 days of life." [PMID:22368629] -subset: gard_rare {source="GARD:0006164"} +subset: gard_rare {source="GARD:6164"} subset: mondo_rare {source="PMID:22368629"} subset: ordo_disease {source="Orphanet:60041"} synonym: "congenital atrioventricular block" EXACT [Orphanet:60041] synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700] xref: DOID:990 {source="MONDO:equivalentTo"} +xref: GARD:6164 {source="Orphanet:60041"} xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: ICD9:746.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:990"} xref: MedDRA:10019263 {source="Orphanet:60041/e", source="Orphanet:60041"} @@ -176647,6 +179149,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009329 name: pulmonary venoocclusive disease 2 def: "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." [Orphanet:199241] +subset: gard_rare {source="GARD:15027", source="GARD:8527"} subset: ordo_disease {source="Orphanet:199241"} synonym: "familial pulmonary capillary hemangiomatosis" RELATED [GARD:0008527] synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [OMIM:234810] @@ -176654,6 +179157,8 @@ synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241] synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810] synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234810] xref: DOID:0081269 {source="MONDO:equivalentTo"} +xref: GARD:15027 {source="Orphanet:199241"} +xref: GARD:8527 {source="OMIM:234810"} xref: ICD10CM:D18.0 {source="Orphanet:199241", source="Orphanet:199241/attributed", source="Orphanet:199241/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} @@ -176672,9 +179177,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009330 name: hemangiopericytoma, malignant def: "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." [NCIT:C4301] +subset: gard_rare {source="GARD:2627"} synonym: "hemangiopericytoma, malignant" EXACT [NCIT:C4301, OMIM:234820] synonym: "malignant hemangiopericytoma" EXACT [NCIT:C4301] synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [NCIT:C4301] +xref: GARD:2627 {source="OMIM:234820"} xref: ICDO:9150/3 {source="NCIT:C4301"} xref: MESH:C562740 {source="MONDO:equivalentTo"} xref: NCIT:C4301 {source="MONDO:equivalentTo"} @@ -176689,6 +179196,7 @@ property_value: confidence "28.000000000000053" xsd:double id: MONDO:0009331 name: isolated hemihyperplasia def: "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." [Orphanet:2128] +subset: gard_rare {source="GARD:2630"} subset: ordo_morphological_anomaly {source="Orphanet:2128"} synonym: "hemi 3 syndrome" EXACT [Orphanet:2128] synonym: "hemi-3 syndrome" RELATED [OMIM:235000] @@ -176699,6 +179207,7 @@ synonym: "hemihypertrophy" EXACT [OMIM:235000, OMIM:genemap2] synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000] synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235000] synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128] +xref: GARD:2630 {source="Orphanet:2128"} xref: ICD10CM:Q87.3 {source="Orphanet:2128", source="Orphanet:2128/attributed", source="Orphanet:2128/ntbt"} xref: MedDRA:10019463 {source="Orphanet:2128", source="Orphanet:2128/e"} xref: MESH:C565524 {source="MONDO:equivalentTo"} @@ -176729,12 +179238,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009333 name: mullerian derivatives-lymphangiectasia-polydactyly syndrome def: "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." [Orphanet:1655] +subset: gard_rare {source="GARD:5430"} subset: ordo_malformation_syndrome {source="Orphanet:1655"} synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [OMIM:235255] synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [Orphanet:1655] synonym: "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly" RELATED [GARD:0005430] synonym: "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" RELATED [GARD:0005430] synonym: "Urioste syndrome" RELATED [OMIM:235255] +xref: GARD:5430 {source="Orphanet:1655"} xref: MESH:C536478 {source="MONDO:equivalentTo"} xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="Orphanet:1655/e"} xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"} @@ -176747,7 +179258,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009334 name: hemolytic anemia with thermal sensitivity of red cells +subset: gard_rare {source="GARD:15179"} synonym: "hemolytic anemia with thermal sensitivity of red cells" EXACT [OMIM:235370] +xref: GARD:15179 {source="OMIM:235370"} xref: MESH:C565522 {source="MONDO:equivalentTo"} xref: OMIM:235370 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="OMIM:235370"} @@ -176758,6 +179271,7 @@ property_value: confidence "0.8993352326685662" xsd:double [Term] id: MONDO:0009335 name: hemolytic uremic syndrome, atypical, susceptibility to, 1 +subset: gard_rare {source="GARD:18550"} subset: predisposition synonym: "Ahus, susceptibility to, 1" RELATED [OMIM:235400] synonym: "AHUS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235400] @@ -176766,6 +179280,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1" EXACT [MOND synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:235400] synonym: "hemolytic uremic syndrome, typical" RELATED [OMIM:235400] synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [OMIM:235400] +xref: GARD:18550 {source="OMIM:235400"} xref: OMIM:235400 {source="MONDO:equivalentTo"} xref: Orphanet:2134 {source="OMIM:235400"} xref: Orphanet:90038 {source="OMIM:235400"} @@ -176781,7 +179296,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009336 name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin +subset: gard_rare {source="GARD:15180"} synonym: "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" EXACT [OMIM:235500] +xref: GARD:15180 {source="OMIM:235500"} xref: OMIM:235500 {source="MONDO:equivalentTo"} xref: Orphanet:99931 {source="OMIM:235500"} xref: UMLS:C0020807 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:235500"} @@ -176792,6 +179309,7 @@ property_value: confidence "2.350933786078099" xsd:double id: MONDO:0009337 name: Hennekam lymphangiectasia-lymphedema syndrome 1 def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15181"} synonym: "CCBE1 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [OMIM:235510] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:235510] @@ -176800,6 +179318,7 @@ synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pat synonym: "HKLLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235510] synonym: "lymphatic dysplasia, generalised" RELATED OMO:0003005 [] synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510] +xref: GARD:15181 {source="OMIM:235510"} xref: OMIM:235510 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:235510"} xref: UMLS:C0340834 {source="OMIM:235510", source="MONDO:ncbi_mim2gene_medline"} @@ -176814,7 +179333,7 @@ property_value: confidence "6.142857142857143" xsd:double id: MONDO:0009338 name: hepatic veno-occlusive disease-immunodeficiency syndrome def: "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." [Orphanet:79124] -subset: gard_rare +subset: gard_rare {source="GARD:10083"} subset: ordo_disease {source="Orphanet:79124"} synonym: "familial veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] synonym: "hepatic veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] @@ -176823,6 +179342,7 @@ synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C5 synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550] synonym: "VODI syndrome" EXACT [Orphanet:79124] xref: DOID:0112254 {source="MONDO:equivalentTo"} +xref: GARD:10083 {source="Orphanet:79124"} xref: ICD10CM:K76.5 {source="Orphanet:79124/attributed", source="Orphanet:79124/ntbt", source="Orphanet:79124"} xref: MESH:C537257 {source="MONDO:equivalentTo"} xref: OMIM:235550 {source="Orphanet:79124/e", source="MONDO:equivalentTo", source="GARD:0010083", source="Orphanet:79124"} @@ -176845,6 +179365,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10083/hepati id: MONDO:0009339 name: congenital bile acid synthesis defect 2 def: "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." [Orphanet:79303] +subset: gard_rare {source="GARD:10045"} subset: ordo_disease {source="Orphanet:79303"} synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BASD2" EXACT ABBREVIATION [Orphanet:79303] @@ -176857,6 +179378,7 @@ synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EX synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1] synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045] xref: DOID:0111069 {source="MONDO:equivalentTo"} +xref: GARD:10045 {source="Orphanet:79303"} xref: ICD10CM:K76.8 {source="Orphanet:79303", source="Orphanet:79303/attributed", source="Orphanet:79303/ntbt", source="DOID:0111069"} xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} @@ -176874,7 +179396,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009340 name: non-spherocytic hemolytic anemia due to hexokinase deficiency def: "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." [GARD:0003672] -subset: gard_rare +subset: gard_rare {source="GARD:3672"} subset: ordo_disease {source="Orphanet:90031"} synonym: "hemolytic anaemia due to hexokinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [OMIM:235700, OMIM:genemap2] @@ -176883,6 +179405,7 @@ synonym: "hexokinase deficiency hemolytic anaemia" RELATED OMO:0003005 [] synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672] synonym: "nonspherocytic hemolytic anaemia due to hexokinase deficiency" RELATED OMO:0003005 [] synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672] +xref: GARD:3672 {source="Orphanet:90031"} xref: ICD10CM:D55.2 {source="Orphanet:90031/inclusion", source="Orphanet:90031", source="Orphanet:90031/ntbt"} xref: MESH:C562995 {source="MONDO:equivalentTo"} xref: OMIM:235700 {source="Orphanet:90031", source="MONDO:equivalentTo", source="Orphanet:90031/e", source="GARD:0003672"} @@ -176901,7 +179424,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3672/nonsphe id: MONDO:0009341 name: Mowat-Wilson syndrome def: "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." [Orphanet:2152] -subset: gard_rare {source="GARD:0009673"} +subset: gard_rare {source="GARD:9673"} subset: ordo_malformation_syndrome {source="Orphanet:2152"} synonym: "Hirschsprung disease intellectual disability syndrome" EXACT [DOID:0060485] synonym: "Hirschsprung disease mental retardation syndrome" EXACT DEPRECATED [DOID:0060485] @@ -176916,6 +179439,7 @@ synonym: "microcephaly, mental retardation, and distinct Facial features, with o synonym: "Mowat-Wilson syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:235730] synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730] xref: DOID:0060485 {source="MONDO:equivalentTo"} +xref: GARD:9673 {source="Orphanet:2152"} xref: ICD10CM:Q43.1 {source="Orphanet:2152/attributed", source="Orphanet:2152/ntbt", source="Orphanet:2152"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536990 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} @@ -176937,6 +179461,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9673/mowat-w id: MONDO:0009342 name: Hirschsprung disease-hearing loss-polydactyly syndrome def: "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." [Orphanet:2155] +subset: gard_rare {source="GARD:157"} subset: ordo_malformation_syndrome {source="Orphanet:2155"} synonym: "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" NARROW [GARD:0000157] synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" NARROW [OMIM:235740] @@ -176944,6 +179469,7 @@ synonym: "Hirschsprung disease, deafness and polydactyly" NARROW [GARD:0000157] synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [Orphanet:2155] synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157] synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155] +xref: GARD:157 {source="Orphanet:2155"} xref: ICD10CM:Q43.1 {source="Orphanet:2155", source="Orphanet:2155/attributed", source="Orphanet:2155/ntbt"} xref: MESH:C565518 {source="MONDO:equivalentTo"} xref: OMIM:235740 {source="Orphanet:2155", source="MONDO:equivalentTo", source="Orphanet:2155/e"} @@ -176962,7 +179488,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009343 name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect -subset: gard_rare synonym: "Hirschsprung disease polydactyly heart disease" RELATED [GARD:0002696] synonym: "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" EXACT [GARD:0002696, OMIM:235750] xref: MESH:C538120 {source="MONDO:equivalentTo"} @@ -176976,11 +179501,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2696/hirschs id: MONDO:0009344 name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome def: "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." [Orphanet:2153] +subset: gard_rare {source="GARD:584"} subset: ordo_malformation_syndrome {source="Orphanet:2153"} synonym: "Al Gazali-Donnai-Muller syndrome" EXACT [Orphanet:2153] synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584] synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760] synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584] +xref: GARD:584 {source="Orphanet:2153"} xref: ICD10CM:Q43.1 {source="Orphanet:2153/attributed", source="Orphanet:2153/ntbt", source="Orphanet:2153"} xref: MESH:C535615 {source="MONDO:equivalentTo"} xref: OMIM:235760 {source="Orphanet:2153/e", source="MONDO:equivalentTo", source="Orphanet:2153"} @@ -176997,7 +179524,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009345 name: histidinemia def: "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." [Orphanet:2157] -subset: gard_rare {source="GARD:0006661"} +subset: gard_rare {source="GARD:6661"} subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:2157"} synonym: "Hal deficiency" EXACT [Orphanet:2157] @@ -177009,6 +179536,7 @@ synonym: "Histidinuria" EXACT [Orphanet:2157] synonym: "histidinuria" EXACT [DOID:0060168] synonym: "hyperhistidinemia" EXACT [Orphanet:2157] xref: DOID:0060168 {source="MONDO:equivalentTo"} +xref: GARD:6661 {source="Orphanet:2157"} xref: ICD10CM:E70.41 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.8 {source="Orphanet:2157", source="Orphanet:2157/attributed", source="Orphanet:2157/ntbt"} xref: MESH:C538320 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"} @@ -177027,9 +179555,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6661/histidi [Term] id: MONDO:0009346 name: histidinuria due to a renal tubular defect +subset: gard_rare {source="GARD:2708"} subset: ordo_disease synonym: "histidinuria due to a renal tubular defect" EXACT [OMIM:235830] synonym: "histidinuria-renal tubular defect syndrome" EXACT [Orphanet:2158] +xref: GARD:2708 {source="Orphanet:2158"} xref: ICD10CM:E70.8 {source="Orphanet:2158", source="Orphanet:Attributed"} xref: MESH:C538321 {source="Orphanet:2158", source="MONDO:equivalentTo"} xref: OMIM:235830 {source="Orphanet:2158", source="MONDO:equivalentTo"} @@ -177057,6 +179587,7 @@ is_a: MONDO:0024627 ! phagocytic cell dysfunction id: MONDO:0009348 name: classic Hodgkin lymphoma def: "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." [Orphanet:391] +subset: gard_rare {source="GARD:16529"} subset: ordo_disease {source="Orphanet:391"} synonym: "Chl" RELATED [MONDO:Lexical, OMIM:236000] synonym: "classic Hodgkin disease" EXACT [Orphanet:391] @@ -177065,6 +179596,7 @@ synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164] synonym: "Hodgkin disease" RELATED [OMIM:236000] synonym: "Hodgkin lymphoma, susceptibility to" RELATED [OMIM:236000, OMIM:genemap2] synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000] +xref: GARD:16529 {source="Orphanet:391"} xref: ICD10CM:C81.0 {source="Orphanet:391", source="Orphanet:391/btnt"} xref: ICD10CM:C81.1 {source="Orphanet:391", source="Orphanet:391/btnt"} xref: ICD10CM:C81.2 {source="Orphanet:391", source="Orphanet:391/btnt"} @@ -177088,6 +179620,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009349 name: holoprosencephaly 1 def: "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." [NCIT:C75476] +subset: gard_rare {source="GARD:20979"} subset: ordo_morphological_anomaly {source="Orphanet:268936"} synonym: "arhinencephaly" RELATED [OMIM:236100] synonym: "cyclopia" BROAD [OMIM:236100] @@ -177100,6 +179633,7 @@ synonym: "Hpe, familial" BROAD [OMIM:236100] synonym: "HPE1" EXACT ABBREVIATION [DOID:0110881, MONDO:Lexical, OMIM:236100] synonym: "isolated arhinencephaly" RELATED [Orphanet:268936] xref: DOID:0110881 {source="MONDO:equivalentTo"} +xref: GARD:20979 {source="Orphanet:268936"} xref: ICD10CM:Q04.1 {source="Orphanet:268936/e", source="Orphanet:268936"} xref: NCIT:C75476 {source="MONDO:equivalentTo"} xref: OMIM:236100 {source="MONDO:equivalentTo", source="DOID:0110881"} @@ -177118,12 +179652,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009350 name: Holzgreve-Wagner-Rehder syndrome def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." [DOID:0060566, PMID:3232694] +subset: gard_rare {source="GARD:2728"} subset: ordo_malformation_syndrome {source="Orphanet:2167"} synonym: "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" EXACT [Orphanet:2167] synonym: "Complex congenital heart defect, renal agenesis and cleft lip and palate" RELATED [GARD:0002728] synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110] synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566] xref: DOID:0060566 {source="MONDO:equivalentTo"} +xref: GARD:2728 {source="Orphanet:2167"} xref: ICD10CM:Q87.8 {source="Orphanet:2167/attributed", source="Orphanet:2167/ntbt", source="Orphanet:2167", source="DOID:0060566"} xref: MESH:C535327 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} xref: OMIM:236110 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} @@ -177159,7 +179695,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009352 name: classic homocystinuria def: "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." [Orphanet:394] -subset: gard_rare +subset: gard_rare {source="GARD:6667"} subset: ordo_disease {source="Orphanet:394"} synonym: "CBS deficiency" RELATED [GARD:0006667, OMIM:236200] synonym: "classic homocystinuria" EXACT CLINGEN_PREFERRED [] @@ -177170,6 +179706,7 @@ synonym: "homocystinuria with or without response to pyridoxine" RELATED [OMIM:2 synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [OMIM:236200, OMIM:genemap2] synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200] synonym: "thrombosis, hyperhomocysteinemic" EXACT [OMIM:236200, OMIM:genemap2] +xref: GARD:6667 {source="Orphanet:394"} xref: ICD10CM:E72.1 {source="Orphanet:394/inclusion", source="Orphanet:394/ntbt", source="Orphanet:394"} xref: MedDRA:10071093 {source="Orphanet:394/e", source="Orphanet:394"} xref: OMIM:236200 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"} @@ -177192,6 +179729,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6667/homocys id: MONDO:0009353 name: homocystinuria due to methylene tetrahydrofolate reductase deficiency def: "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations." [Orphanet:395] +subset: gard_rare {source="GARD:2734"} subset: ordo_disease {source="Orphanet:395"} synonym: "5,10 alpha methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "5,10-alpha-methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] @@ -177205,6 +179743,7 @@ synonym: "Methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734 synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250] synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395] synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250] +xref: GARD:2734 {source="Orphanet:395"} xref: ICD10CM:E72.1 {source="Orphanet:395/inclusion", source="Orphanet:395", source="Orphanet:395/ntbt"} xref: MESH:C537357 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:236250 {source="Orphanet:395/e", source="MONDO:equivalentTo", source="Orphanet:395"} @@ -177223,7 +179762,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0009354 name: methylcobalamin deficiency type cblE def: "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." [NCIT:C142173] -subset: gard_rare +subset: gard_rare {source="GARD:3576"} subset: ordo_clinical_subtype {source="Orphanet:2169"} synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169] synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236270] @@ -177239,6 +179778,7 @@ synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270 xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"} xref: DOID:0112255 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0005568 {source="MONDO:equivalentTo"} +xref: GARD:3576 {source="Orphanet:2169"} xref: ICD10CM:E72.1 {source="Orphanet:2169/attributed", source="Orphanet:2169/ntbt", source="Orphanet:2169"} xref: MESH:C565510 {source="MONDO:equivalentTo"} xref: NCIT:C142173 {source="MONDO:equivalentTo"} @@ -177256,7 +179796,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009355 name: Hooft disease -subset: gard_rare {source="GARD:0009702"} synonym: "delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids" RELATED [GARD:0009702] synonym: "Hooft disease" EXACT [OMIM:236300] xref: MESH:C535329 {source="MONDO:equivalentTo"} @@ -177295,7 +179834,6 @@ is_a: MONDO:0007737 {source="MONDO:cjm"} ! humeroradial synostosis [Term] id: MONDO:0009358 name: Hutterite cerebroosteonephrodysplasia syndrome -subset: gard_rare {source="GARD:0009956"} synonym: "cerebroosteonephosis syndrome" RELATED [OMIM:236450] synonym: "cond" RELATED [OMIM:236450] synonym: "Hutterite cerebroosteonephrodysplasia syndrome" EXACT [OMIM:236450] @@ -177308,6 +179846,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9956/hutteri [Term] id: MONDO:0009359 name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +subset: gard_rare {source="GARD:17922"} subset: ordo_malformation_syndrome synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [OMIM:236500] synonym: "MARCH" RELATED ABBREVIATION [OMIM:236500] @@ -177315,6 +179854,7 @@ synonym: "MARCH syndrome" EXACT [Orphanet:500135] synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [OMIM:236500] synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" RELATED [OMIM:236500] xref: DOID:0080327 {source="MONDO:equivalentTo"} +xref: GARD:17922 {source="Orphanet:500135"} xref: MESH:C565507 {source="MONDO:equivalentTo"} xref: OMIM:236500 {source="Orphanet:500135", source="MONDO:equivalentTo", source="DOID:0080327"} xref: Orphanet:500135 {source="MONDO:equivalentTo"} @@ -177369,11 +179909,13 @@ property_value: confidence "0.5277777777777779" xsd:double id: MONDO:0009362 name: growth delay-hydrocephaly-lung hypoplasia syndrome def: "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." [Orphanet:3035] +subset: gard_rare {source="GARD:2427"} subset: ordo_malformation_syndrome {source="Orphanet:3035"} synonym: "game Friedman Paradice syndrome" RELATED [GARD:0002427] synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035] synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640] synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427] +xref: GARD:2427 {source="Orphanet:3035"} xref: ICD10CM:Q87.8 {source="Orphanet:3035", source="Orphanet:3035/attributed", source="Orphanet:3035/ntbt"} xref: MESH:C535406 {source="MONDO:equivalentTo"} xref: OMIM:236640 {source="Orphanet:3035", source="MONDO:equivalentTo", source="Orphanet:3035/e"} @@ -177390,12 +179932,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009363 name: hydrocephaly-tall stature-joint laxity syndrome def: "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." [Orphanet:2181] +subset: gard_rare {source="GARD:1666"} subset: ordo_malformation_syndrome {source="Orphanet:2181"} synonym: "Daish Hardman Lamont syndrome" RELATED [GARD:0001666] synonym: "Daish-Hardman-Lamont syndrome" EXACT [Orphanet:2181] synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED [GARD:0001666] synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660] synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666] +xref: GARD:1666 {source="Orphanet:2181"} xref: ICD10CM:Q87.8 {source="Orphanet:2181/attributed", source="Orphanet:2181/ntbt", source="Orphanet:2181"} xref: MESH:C535770 {source="MONDO:equivalentTo"} xref: OMIM:236660 {source="Orphanet:2181/e", source="MONDO:equivalentTo", source="Orphanet:2181"} @@ -177439,6 +179983,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009365 name: hydrolethalus syndrome 1 def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15182"} synonym: "HLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236680] synonym: "hydrolethalus syndrome" BROAD [OMIM:236680, OMIM:genemap2] synonym: "hydrolethalus syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:236680] @@ -177446,6 +179991,7 @@ synonym: "hydrolethalus syndrome caused by mutation in HYLS1" EXACT [MONDO:desig synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1, OMIM:236680] synonym: "HYLS1 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111355 {source="MONDO:equivalentTo"} +xref: GARD:15182 {source="OMIM:236680"} xref: MESH:C565504 {source="MONDO:equivalentTo"} xref: OMIM:236680 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="OMIM:236680"} @@ -177487,7 +180033,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009367 name: McKusick-Kaufman syndrome def: "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." [Orphanet:2473] -subset: gard_rare {source="GARD:0003427"} +subset: gard_rare {source="GARD:3427"} subset: ordo_malformation_syndrome {source="Orphanet:2473"} synonym: "HMCS" RELATED ABBREVIATION [GARD:0003427] synonym: "hydrometrocolpos syndrome" RELATED [OMIM:236700] @@ -177500,6 +180046,7 @@ synonym: "MCKUSICK-Kaufman syndrome" RELATED [OMIM:236700] synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700] synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236700] xref: DOID:0111255 {source="MONDO:equivalentTo"} +xref: GARD:3427 {source="Orphanet:2473"} xref: ICD10CM:Q87.8 {source="Orphanet:2473", source="Orphanet:2473/attributed", source="Orphanet:2473/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052312 {source="Orphanet:2473", source="Orphanet:2473/e"} @@ -177536,6 +180083,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009369 name: non-immune hydrops fetalis def: "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." [Orphanet:363999] +subset: gard_rare {source="GARD:17580"} subset: ordo_clinical_subtype {source="Orphanet:363999"} synonym: "Haemoglobin H hydrops fetalis syndrome" RELATED OMO:0003005 [] synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [OMIM:236750] @@ -177548,6 +180096,7 @@ synonym: "non-immune foetal hydrops" EXACT OMO:0003005 [] synonym: "non-immune foetal oedema" EXACT OMO:0003005 [] synonym: "non-immune HF" EXACT [Orphanet:363999] xref: EFO:0009051 {source="MONDO:equivalentTo"} +xref: GARD:17580 {source="Orphanet:363999"} xref: ICD10CM:P56.9 {source="Orphanet:363999", source="Orphanet:363999/btnt"} xref: ICD10CM:P83.2 {source="Orphanet:363999", source="Orphanet:363999/btnt"} xref: ICD9:778.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -177567,13 +180116,14 @@ property_value: confidence "6.312499999999999" xsd:double id: MONDO:0009370 name: L-2-hydroxyglutaric aciduria def: "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." [Orphanet:79314] -subset: gard_rare {source="GARD:0010472"} +subset: gard_rare {source="GARD:10472"} subset: ordo_disease {source="Orphanet:79314"} synonym: "L-2-HGA" EXACT [Orphanet:79314] synonym: "L-2-hydroxyglutaric acidemia" EXACT [DOID:0050574, OMIM:236792, Orphanet:79314] synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792] synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792] xref: DOID:0050574 {source="MONDO:equivalentTo"} +xref: GARD:10472 {source="Orphanet:79314"} xref: ICD10CM:E72.8 {source="Orphanet:79314", source="Orphanet:79314/attributed", source="Orphanet:79314/ntbt"} xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="Orphanet:79314/e"} xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"} @@ -177589,10 +180139,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10472/l-2-hy id: MONDO:0009371 name: 3-hydroxyisobutyric aciduria def: "3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." [Orphanet:939] -subset: gard_rare {source="GARD:0005662"} +subset: gard_rare {source="GARD:5662"} subset: ordo_disease {source="Orphanet:939"} synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795] synonym: "disorder of valine metabolism" RELATED [GARD:0005662] +xref: GARD:5662 {source="Orphanet:939"} xref: ICD10CM:E71.1 {source="Orphanet:939", source="Orphanet:939/attributed", source="Orphanet:939/ntbt"} xref: ICD9:791.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535312 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} @@ -177609,12 +180160,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5662/3-hydro id: MONDO:0009372 name: encephalopathy due to hydroxykynureninuria def: "Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." [Orphanet:79155] +subset: gard_rare {source="GARD:10039"} subset: ordo_disease {source="Orphanet:79155"} synonym: "hydroxykynureninuria" RELATED [OMIM:236800] synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155] synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800] synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155] xref: DOID:0112257 {source="MONDO:equivalentTo"} +xref: GARD:10039 {source="Orphanet:79155"} xref: ICD10CM:E70.8 {source="Orphanet:79155", source="Orphanet:79155/attributed", source="Orphanet:79155/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536081 {source="MONDO:equivalentTo"} @@ -177630,8 +180183,10 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0009373 name: seizures-intellectual disability due to hydroxylysinuria syndrome def: "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." [Orphanet:79156] +subset: gard_rare {source="GARD:16709"} subset: ordo_disease {source="Orphanet:79156"} synonym: "hydroxylysinuria" RELATED [OMIM:236900] +xref: GARD:16709 {source="Orphanet:79156"} xref: ICD10CM:E72.3 {source="Orphanet:79156/attributed", source="Orphanet:79156/ntbt", source="Orphanet:79156"} xref: MESH:C565502 {source="MONDO:equivalentTo"} xref: OMIM:236900 {source="Orphanet:79156/e", source="MONDO:equivalentTo", source="Orphanet:79156"} @@ -177675,6 +180230,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009376 name: carbamoyl phosphate synthetase I deficiency disease def: "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." [Orphanet:147] +subset: gard_rare {source="GARD:7269"} subset: ordo_disease {source="Orphanet:147"} synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [OMIM:237300] synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [OMIM:237300] @@ -177695,6 +180251,7 @@ synonym: "deficiency disease" EXACT [NCIT:C84612] synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" RELATED [GARD:0007269] xref: DOID:9280 {source="EFO:0007193", source="MONDO:equivalentTo"} xref: EFO:0007193 {source="MONDO:equivalentTo"} +xref: GARD:7269 {source="Orphanet:147"} xref: ICD10CM:E72.2 {source="Orphanet:147", source="Orphanet:147/attributed", source="Orphanet:147/ntbt"} xref: MedDRA:10058297 {source="Orphanet:147", source="Orphanet:147/e"} xref: MESH:D020165 {source="DOID:9280", source="EFO:0007193", source="MONDO:equivalentTo"} @@ -177714,6 +180271,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009377 name: hyperammonemia due to N-acetylglutamate synthase deficiency def: "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." [Orphanet:927] +subset: gard_rare {source="GARD:7158"} subset: ordo_disease {source="Orphanet:927"} synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310] @@ -177725,6 +180283,7 @@ synonym: "NAGS deficiency" EXACT [Orphanet:927] synonym: "Nags deficiency" RELATED [OMIM:237310] synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237310] xref: DOID:0112258 {source="MONDO:equivalentTo"} +xref: GARD:7158 {source="Orphanet:927"} xref: ICD10CM:E72.2 {source="Orphanet:927/attributed", source="Orphanet:927/ntbt", source="Orphanet:927"} xref: MESH:C536109 {source="MONDO:equivalentTo"} xref: NCIT:C129307 {source="MONDO:equivalentTo"} @@ -177742,11 +180301,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009378 name: hyper-beta-alaninemia def: "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." [GARD:0010267] -subset: gard_rare +subset: gard_rare {source="GARD:10267"} subset: ordo_disease {source="Orphanet:309147"} synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400] synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147] synonym: "hyperbetaalaninemia" RELATED [GARD:0010267] +xref: GARD:10267 {source="Orphanet:309147"} xref: ICD10CM:E79.8 {source="Orphanet:309147/attributed", source="Orphanet:309147/ntbt", source="Orphanet:309147"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562684 {source="MONDO:equivalentTo"} @@ -177762,7 +180322,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10267/hyperb id: MONDO:0009379 name: Rotor syndrome def: "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." [Orphanet:3111] -subset: gard_rare {source="GARD:0000218"} +subset: gard_rare {source="GARD:218"} subset: ordo_disease {source="Orphanet:3111"} synonym: "HBLRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237450] synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical, OMIM:237450] @@ -177770,6 +180330,7 @@ synonym: "hyperbilirubinemia, Rotor type" EXACT [Orphanet:3111] synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [OMIM:237450, OMIM:genemap2] synonym: "Rotor syndrome" EXACT [OMIM:237450] synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218] +xref: GARD:218 {source="Orphanet:3111"} xref: ICD10CM:E80.6 {source="Orphanet:3111", source="Orphanet:3111/attributed", source="Orphanet:3111/ntbt"} xref: MedDRA:10039234 {source="Orphanet:3111", source="Orphanet:3111/e"} xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="Orphanet:3111/e"} @@ -177788,7 +180349,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/218/rotor-sy id: MONDO:0009380 name: Dubin-Johnson syndrome def: "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." [Orphanet:234] -subset: gard_rare +subset: gard_rare {source="GARD:2793"} subset: ordo_disease {source="Orphanet:234"} synonym: "chronic idiopathic jaundice" EXACT [DOID:12308] synonym: "conjugated hyperbilirubinemia" RELATED [GARD:0006289] @@ -177801,6 +180362,7 @@ synonym: "hyperbilirubinemia type 2" EXACT [Orphanet:234] synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [OMIM:237500] synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234] xref: DOID:12308 {source="MONDO:equivalentTo"} +xref: GARD:2793 {source="Orphanet:234"} xref: ICD10CM:E80.6 {source="DOID:12308", source="Orphanet:234/attributed", source="Orphanet:234/ntbt", source="Orphanet:234"} xref: MedDRA:10013800 {source="Orphanet:234/e", source="Orphanet:234"} xref: MESH:D007566 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} @@ -177840,7 +180402,7 @@ is_a: MONDO:0002408 {source="DC-OMIM:237800"} ! hereditary hyperbilirubinemia [Term] id: MONDO:0009383 name: transient familial neonatal hyperbilirubinemia -subset: gard_rare +subset: gard_rare {source="GARD:2791"} subset: ordo_disease {source="Orphanet:2312"} synonym: "breast milk jaundice" RELATED [OMIM:237900] synonym: "HBLRTFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237900] @@ -177849,6 +180411,7 @@ synonym: "hyperbilirubinemia, familial transient neonatal" EXACT [OMIM:237900, O synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical, OMIM:237900] synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312] synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304] +xref: GARD:2791 {source="Orphanet:2312"} xref: ICD10CM:P59.8 {source="Orphanet:2312/attributed", source="Orphanet:2312/ntbt", source="Orphanet:2312"} xref: MESH:C562692 {source="MONDO:equivalentTo"} xref: OMIM:237900 {source="Orphanet:2312", source="MONDO:equivalentTo", source="Orphanet:2312/e"} @@ -177919,7 +180482,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009387 name: familial lipoprotein lipase deficiency def: "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency] -subset: gard_rare {source="GARD:0012241"} +subset: gard_rare {source="GARD:12241"} subset: ordo_clinical_subtype {source="Orphanet:309015"} synonym: "Burger-Grutz syndrome" RELATED [GARD:0012241] synonym: "chylomicronemia, familial" RELATED [OMIM:238600] @@ -177951,6 +180514,7 @@ synonym: "LPL deficiency" EXACT [OMIM:238600, Orphanet:309015] synonym: "mixed hyperglyceridemia" EXACT [DOID:14118] synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241] xref: DOID:14118 {source="MONDO:equivalentTo"} +xref: GARD:12241 {source="Orphanet:309015"} xref: ICD10CM:E78.3 {source="DOID:14118", source="Orphanet:309015/attributed", source="Orphanet:309015/ntbt", source="Orphanet:309015"} xref: ICD9:272.3 {source="DOID:14118"} xref: MESH:D008072 {source="DOID:14118", source="MONDO:equivalentTo"} @@ -177978,6 +180542,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12241/famili id: MONDO:0009388 name: hyperlysinemia def: "Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." [Orphanet:2203] +subset: gard_rare {source="GARD:2828"} subset: ordo_disease {source="Orphanet:2203"} synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:238700] synonym: "hyperlysinemia" EXACT CLINGEN_PREFERRED [MONDO:ambiguous] @@ -177991,6 +180556,7 @@ synonym: "lysine alpha-ketoglutarate reductase deficiency" EXACT [Orphanet:2203] synonym: "lysine intolerance" RELATED [OMIM:238700] synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700] xref: DOID:9274 {source="MONDO:equivalentTo"} +xref: GARD:2828 {source="Orphanet:2203"} xref: HP:0002161 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.3 {source="Orphanet:2203/ntbt", source="Orphanet:2203/inclusion", source="Orphanet:2203", source="DOID:9274"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -178013,7 +180579,9 @@ property_value: IAO:0000589 "hyperlysinemia (disease)" xsd:string [Term] id: MONDO:0009389 name: hyperlysinemia due to defect in lysine transport into mitochondria +subset: gard_rare {source="GARD:15183"} synonym: "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria" RELATED [OMIM:238710] +xref: GARD:15183 {source="OMIM:238710"} xref: MESH:C565499 {source="MONDO:equivalentTo"} xref: OMIM:238710 {source="MONDO:equivalentTo"} xref: Orphanet:2203 {source="OMIM:238710"} @@ -178055,6 +180623,7 @@ is_a: MONDO:0003847 {source="MESH:C565497/inferred"} ! hereditary disease id: MONDO:0009393 name: ornithine translocase deficiency def: "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction." [Orphanet:415] +subset: gard_rare {source="GARD:2830"} subset: ordo_disease {source="Orphanet:415"} synonym: "HHH" RELATED ABBREVIATION [GARD:0002830] synonym: "HHH syndrome" EXACT [DOID:0050720, Orphanet:415] @@ -178069,6 +180638,7 @@ synonym: "ornithine translocase deficiency syndrome" RELATED [GARD:0002830] synonym: "ORNT1 deficiency" EXACT [Orphanet:415] synonym: "triple H syndrome" EXACT [Orphanet:415] xref: DOID:0050720 {source="MONDO:equivalentTo"} +xref: GARD:2830 {source="Orphanet:415"} xref: ICD10CM:E72.4 {source="Orphanet:415/attributed", source="Orphanet:415/ntbt", source="Orphanet:415"} xref: MESH:C538380 {source="MONDO:equivalentTo"} xref: NCIT:C129029 {source="MONDO:equivalentTo"} @@ -178088,7 +180658,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009394 name: juvenile Paget disease def: "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." [Orphanet:2801] -subset: gard_rare {source="GARD:0002831"} +subset: gard_rare {source="GARD:2831"} subset: ordo_malformation_syndrome {source="Orphanet:2801"} synonym: "familial hyperphosphatasia" EXACT [NCIT:C131861] synonym: "familial osteoectasia" EXACT [Orphanet:2801] @@ -178107,6 +180677,7 @@ synonym: "Paget disease juvenile type" RELATED [GARD:0002831] synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000] synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239000] xref: DOID:0081368 {source="MONDO:equivalentTo"} +xref: GARD:2831 {source="Orphanet:2801"} xref: ICD10CM:M88.0 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} xref: ICD10CM:M88.8 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} xref: ICD10CM:M88.9 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} @@ -178128,6 +180699,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2831/juvenil id: MONDO:0009395 name: hyperostosis corticalis generalisata def: "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." [Orphanet:3416] +subset: gard_rare {source="GARD:2833"} subset: ordo_malformation_syndrome {source="Orphanet:3416"} synonym: "endosteal hyperostosis" EXACT [NCIT:C131812] synonym: "endosteal hyperostosis autosomal recessive" RELATED [GARD:0002833] @@ -178141,6 +180713,7 @@ synonym: "van Buchem disease" EXACT [DOID:0080036] synonym: "van Buchem disease type 1" EXACT [NCIT:C131812] synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100] xref: DOID:0080036 {source="MONDO:equivalentTo"} +xref: GARD:2833 {source="Orphanet:3416"} xref: ICD10CM:M85.2 {source="Orphanet:3416", source="Orphanet:3416/attributed", source="Orphanet:3416/ntbt"} xref: NCIT:C131812 {source="MONDO:equivalentTo"} xref: OMIM:239100 {source="MONDO:equivalentTo", source="DOID:0080036", source="Orphanet:3416", source="Orphanet:3416/e"} @@ -178172,6 +180745,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009397 name: neonatal severe primary hyperparathyroidism def: "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." [Orphanet:417] +subset: gard_rare {source="GARD:2838"} subset: ordo_disease {source="Orphanet:417"} synonym: "hyperparathyroidism, neonatal" EXACT [OMIM:239200, OMIM:genemap2] synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical, OMIM:239200] @@ -178179,6 +180753,7 @@ synonym: "hyperparathyroidism, neonatal severe primary" RELATED [OMIM:239200] synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838] synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417] synonym: "Nsph" RELATED [OMIM:239200] +xref: GARD:2838 {source="Orphanet:417"} xref: ICD10CM:E21.0 {source="Orphanet:417", source="Orphanet:417/attributed", source="Orphanet:417/ntbt"} xref: MESH:C563375 {source="MONDO:equivalentTo"} xref: NCIT:C131853 {source="MONDO:equivalentTo"} @@ -178201,6 +180776,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009398 name: hyperphosphatasia with intellectual disability syndrome 1 def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18349"} synonym: "glycosylphosphatidylinositol biosynthesis defect 2" RELATED [OMIM:239300] synonym: "HPMRS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:239300] synonym: "hyperphosphatasia with intellectual disability syndrome 1" EXACT [MONDO:Lexical, OMIM:239300] @@ -178210,6 +180786,7 @@ synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT DEPRE synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV" EXACT [MONDO:design_pattern] synonym: "Mabry syndrome" RELATED [OMIM:239300] synonym: "PIGV hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18349 {source="OMIM:239300"} xref: OMIM:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:239300"} xref: UMLS:C1855923 {source="OMIM:239300", source="MONDO:ncbi_mim2gene_medline"} @@ -178234,6 +180811,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009400 name: hyperprolinemia type 1 def: "Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." [Orphanet:419] +subset: gard_rare {source="GARD:2847"} subset: ordo_disease {source="Orphanet:419"} synonym: "HPI" RELATED ABBREVIATION [OMIM:239500] synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern] @@ -178244,6 +180822,7 @@ synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239500] synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "proline oxidase deficiency" EXACT [Orphanet:419] xref: DOID:0080542 {source="MONDO:equivalentTo"} +xref: GARD:2847 {source="Orphanet:419"} xref: ICD10CM:E72.5 {source="Orphanet:419/inclusion", source="Orphanet:419", source="Orphanet:419/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058513 {source="Orphanet:419", source="Orphanet:419/e"} @@ -178262,7 +180841,7 @@ property_value: confidence "14.833333333333334" xsd:double id: MONDO:0009401 name: hyperprolinemia type 2 def: "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." [Orphanet:79101] -subset: gard_rare {source="GARD:0006710"} +subset: gard_rare {source="GARD:6710"} subset: ordo_disease {source="Orphanet:79101"} synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710] synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510] @@ -178276,6 +180855,7 @@ synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510] synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239510] synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710] xref: DOID:0080543 {source="MONDO:equivalentTo"} +xref: GARD:6710 {source="Orphanet:79101"} xref: ICD10CM:E72.5 {source="Orphanet:79101/attributed", source="Orphanet:79101/ntbt", source="Orphanet:79101"} xref: MedDRA:10058512 {source="Orphanet:79101/e", source="Orphanet:79101"} xref: MedDRA:10058514 {source="Orphanet:79101/e", source="Orphanet:79101"} @@ -178297,6 +180877,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6710/hyperpr id: MONDO:0009402 name: acrofrontofacionasal dysostosis 2 def: "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." [Orphanet:2211] +subset: gard_rare {source="GARD:287"} subset: ordo_malformation_syndrome {source="Orphanet:2211"} synonym: "acrofrontofacionasal dysostosis 2" EXACT [OMIM:239710] synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, OMIM:239710, Orphanet:2211] @@ -178309,6 +180890,7 @@ synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [OMIM synonym: "hypertelorism-hypospadias-polysyndactyly syndrome" EXACT [Orphanet:2211] synonym: "Naguib syndrome" RELATED [GARD:0000287] synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211] +xref: GARD:287 {source="Orphanet:2211"} xref: ICD10CM:Q87.8 {source="Orphanet:2211/attributed", source="Orphanet:2211/ntbt", source="Orphanet:2211"} xref: MESH:C538332 {source="MONDO:equivalentTo"} xref: OMIM:239710 {source="Orphanet:2211", source="MONDO:equivalentTo", source="Orphanet:2211/e"} @@ -178324,7 +180906,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009403 name: hypertelorism and tetralogy of fallot -subset: gard_rare {source="GARD:0002848"} synonym: "hypertelorism and tetralogy of fallot" EXACT [OMIM:239711] xref: MESH:C538386 {source="MONDO:equivalentTo"} xref: OMIM:239711 {source="MONDO:equivalentTo"} @@ -178336,6 +180917,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2848/hyperte id: MONDO:0009404 name: hypertelorism, microtia, facial clefting syndrome def: "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." [Orphanet:2213] +subset: gard_rare {source="GARD:897"} subset: ordo_malformation_syndrome {source="Orphanet:2213"} synonym: "Bixler Christian Gorlin syndrome" EXACT [DOID:14670] synonym: "Bixler syndrome" EXACT [DOID:14670] @@ -178346,6 +180928,7 @@ synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [OMIM:239800] synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670] synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670] xref: DOID:14670 {source="MONDO:equivalentTo"} +xref: GARD:897 {source="Orphanet:2213"} xref: ICD10CM:Q87.0 {source="Orphanet:2213/attributed", source="Orphanet:2213/ntbt", source="Orphanet:2213"} xref: MESH:C537632 {source="DOID:14670", source="MONDO:equivalentTo"} xref: OMIM:239800 {source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="Orphanet:2213/e"} @@ -178364,10 +180947,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009405 name: cervical hypertrichosis-peripheral neuropathy syndrome def: "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." [Orphanet:2218] -subset: gard_rare +subset: gard_rare {source="GARD:1226"} subset: ordo_disease {source="Orphanet:2218"} synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226] synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840] +xref: GARD:1226 {source="Orphanet:2218"} xref: MESH:C565492 {source="MONDO:equivalentTo"} xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="Orphanet:2218/e"} xref: Orphanet:2218 {source="OMIM:239840", source="MONDO:equivalentTo", source="GARD:0001226"} @@ -178385,7 +180969,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1226/cervica id: MONDO:0009406 name: hypertrichotic osteochondrodysplasia Cantu type def: "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." [Orphanet:1517] -subset: gard_rare +subset: gard_rare {source="GARD:8585"} subset: ordo_malformation_syndrome {source="Orphanet:1517"} synonym: "Cantu syndrome" EXACT [DOID:0060569, OMIM:239850] synonym: "Craniofaciocardioskeletal syndrome" RELATED [GARD:0008585] @@ -178393,6 +180977,7 @@ synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585, OMIM:2398 synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [OMIM:239850, OMIM:genemap2] synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517] xref: DOID:0060569 {source="MONDO:equivalentTo"} +xref: GARD:8585 {source="Orphanet:1517"} xref: ICD10CM:Q87.3 {source="Orphanet:1517/attributed", source="Orphanet:1517/ntbt", source="Orphanet:1517"} xref: MESH:C535572 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="Orphanet:1517"} xref: OMIM:239850 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="Orphanet:1517"} @@ -178453,7 +181038,7 @@ replaced_by: MONDO:0015129 id: MONDO:0009411 name: autoimmune polyendocrine syndrome type 1 def: "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." [Orphanet:3453] -subset: gard_rare +subset: gard_rare {source="GARD:8466"} subset: ordo_disease {source="Orphanet:3453"} synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "aire autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern] @@ -178488,6 +181073,7 @@ synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [OMIM: synonym: "Whitaker syndrom" EXACT [DOID:0050167] synonym: "Whitaker syndrome" RELATED [GTR:AN0156902] xref: DOID:0050167 {source="MONDO:equivalentTo"} +xref: GARD:8466 {source="Orphanet:3453"} xref: ICD10CM:E31.0 {source="Orphanet:3453", source="Orphanet:3453/ntbt", source="Orphanet:3453/inclusion"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538275 {source="Orphanet:3453", source="Orphanet:3453/e"} @@ -178516,7 +181102,6 @@ id: MONDO:0009412 name: scurvy def: "A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." [https://rarediseases.info.nih.gov/diseases/10406/scurvy] comment: An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. -subset: gard_rare {source="GARD:0010406"} synonym: "ascorbic acid deficiency" EXACT [MONDO:0006661] synonym: "deficiency of vitamin C" EXACT [GARD:0010406] synonym: "Gulo, nonfunctional" RELATED [OMIM:240400] @@ -178557,12 +181142,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10406/scurvy [Term] id: MONDO:0009413 name: immunodeficiency, common variable, 2 +subset: gard_rare {source="GARD:15184"} synonym: "antibody deficiency due to TACI defect" RELATED [OMIM:240500] synonym: "CVID2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240500] synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [OMIM:240500] synonym: "immunodeficiency, common variable, 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:240500] synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1, OMIM:240500] xref: DOID:0081145 {source="MONDO:equivalentTo"} +xref: GARD:15184 {source="OMIM:240500"} xref: OMIM:240500 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:240500"} xref: UMLS:C3150354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:240500"} @@ -178572,6 +181159,7 @@ is_a: MONDO:0015517 {source="DC-OMIM:240500", source="OMIM:240500"} ! common var id: MONDO:0009414 name: glycogen storage disorder due to hepatic glycogen synthase deficiency def: "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." [Orphanet:2089] +subset: gard_rare {source="GARD:2513"} subset: ordo_disease {source="Orphanet:2089"} synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600] synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern] @@ -178592,6 +181180,7 @@ synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600] synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600] synonym: "liver GSD 0" RELATED [GARD:0002513] +xref: GARD:2513 {source="Orphanet:2089"} xref: ICD10CM:E74.0 {source="Orphanet:2089", source="Orphanet:2089/ntbt", source="Orphanet:2089/inclusion"} xref: MESH:C565485 {source="MONDO:equivalentTo"} xref: OMIM:240600 {source="Orphanet:2089", source="MONDO:equivalentTo", source="Orphanet:2089/e"} @@ -178627,10 +181216,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009416 name: hypoinsulinemic hypoglycemia and body hemihypertrophy +subset: gard_rare {source="GARD:17352"} subset: ordo_disease {source="Orphanet:293964"} synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240900] synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900] xref: DOID:0112263 {source="MONDO:equivalentTo"} +xref: GARD:17352 {source="Orphanet:293964"} xref: OMIM:240900 {source="Orphanet:293964/e", source="MONDO:equivalentTo", source="Orphanet:293964"} xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"} xref: UMLS:C1855860 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -178646,11 +181237,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0009417 name: hypergonadotropic hypogonadism-cataract syndrome def: "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." [Orphanet:2410] +subset: gard_rare {source="GARD:298"} subset: ordo_malformation_syndrome {source="Orphanet:2410"} synonym: "cataracts and testicular failure" RELATED [OMIM:240950] synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298] synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950] synonym: "Lubinsky syndrome" EXACT [Orphanet:2410] +xref: GARD:298 {source="Orphanet:2410"} xref: ICD10CM:E29.1 {source="Orphanet:2410", source="Orphanet:2410/attributed", source="Orphanet:2410/ntbt"} xref: MESH:C543092 {source="MONDO:equivalentTo"} xref: OMIM:240950 {source="Orphanet:2410", source="MONDO:equivalentTo", source="Orphanet:2410/e"} @@ -178674,7 +181267,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009419 name: Woodhouse-Sakati syndrome def: "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." [Orphanet:3464] -subset: gard_rare {source="GARD:0005592"} +subset: gard_rare {source="GARD:5592"} subset: ordo_disease {source="Orphanet:3464"} synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [Orphanet:3464] synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia" RELATED [OMIM:241080] @@ -178687,6 +181280,7 @@ synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592] synonym: "Woodhouse-Sakati syndrome" EXACT CLINGEN_PREFERRED [] synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080] xref: DOID:0112264 {source="MONDO:equivalentTo"} +xref: GARD:5592 {source="Orphanet:3464"} xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="Orphanet:3464/attributed", source="Orphanet:3464/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536742 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} @@ -178710,9 +181304,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5592/woodhou id: MONDO:0009420 name: primary hypergonadotropic hypogonadism-partial alopecia syndrome def: "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." [Orphanet:2232] +subset: gard_rare {source="GARD:16588"} subset: ordo_disease {source="Orphanet:2232"} synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232] synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090] +xref: GARD:16588 {source="Orphanet:2232"} xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} xref: ICD10CM:E29.1 {source="Orphanet:2232", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} xref: MESH:C567109 {source="MONDO:equivalentTo"} @@ -178765,6 +181361,7 @@ is_a: MONDO:0003847 {source="MESH:C562654/inferred"} ! hereditary disease id: MONDO:0009424 name: Bartter disease type 2 def: "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22483"} synonym: "BARTS2" EXACT ABBREVIATION [DOID:0110143] synonym: "Bartter disease type 2" EXACT CLINGEN_PREFERRED [] synonym: "Bartter syndrome antenatal type 2" RELATED [GARD:0009658] @@ -178781,6 +181378,7 @@ synonym: "hypokalemic alkalosis with hypercalciuria antenatal 2" RELATED [GARD:0 synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [OMIM:241200] synonym: "KCNJ1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110143 {source="MONDO:equivalentTo"} +xref: GARD:22483 {source="Orphanet:620220"} xref: ICD10CM:E26.8 {source="DOID:0110143"} xref: MESH:C537651 {source="MONDO:equivalentTo"} xref: OMIM:241200 {source="MONDO:equivalentTo", source="DOID:0110143"} @@ -178800,9 +181398,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009425 name: hypomandibular faciocranial dysostosis def: "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." [Orphanet:1790] -subset: gard_rare {source="GARD:0002907"} +subset: gard_rare {source="GARD:2907"} subset: ordo_malformation_syndrome {source="Orphanet:1790"} synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310] +xref: GARD:2907 {source="Orphanet:1790"} xref: ICD10CM:Q75.4 {source="Orphanet:1790/attributed", source="Orphanet:1790/ntbt", source="Orphanet:1790"} xref: MESH:C537154 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} xref: OMIM:241310 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} @@ -178819,6 +181418,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2907/hypoman id: MONDO:0009426 name: hypoparathyroidism-retardation-dysmorphism syndrome def: "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." [Orphanet:2323] +subset: gard_rare {source="GARD:411"} subset: ordo_malformation_syndrome {source="Orphanet:2323"} synonym: "HRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241410] synonym: "HRD syndrome" EXACT [DOID:0060348, Orphanet:2323] @@ -178836,6 +181436,7 @@ synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323] synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410] synonym: "SSS" EXACT ABBREVIATION [Orphanet:2323] xref: DOID:0060348 {source="MONDO:equivalentTo"} +xref: GARD:411 {source="Orphanet:2323"} xref: ICD10CM:Q87.1 {source="Orphanet:2323/attributed", source="Orphanet:2323/ntbt", source="Orphanet:2323"} xref: MESH:C537157 {source="MONDO:equivalentTo", source="DOID:0060348"} xref: NCIT:C133727 {source="MONDO:equivalentTo"} @@ -178858,6 +181459,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009427 name: obsolete infantile hypophosphatasia def: "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [Orphanet:247651] +subset: gard_rare {source="GARD:17192"} subset: ordo_clinical_subtype {source="Orphanet:247651"} synonym: "HOPS" EXACT ABBREVIATION [DOID:0110914, OMIM:241500] synonym: "hypophosphatasia, infantile" RELATED [OMIM:241500] @@ -178867,6 +181469,7 @@ synonym: "infantile Rathburn disease" EXACT [Orphanet:247651] synonym: "obsolete infantile hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "phosphoethanolaminuria" RELATED EXCLUDE [DOID:0110914] xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"} +xref: GARD:17192 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"} xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"} xref: Orphanet:247623 {source="OMIM:241500"} @@ -178888,7 +181491,7 @@ consider: MONDO:0600011 id: MONDO:0009428 name: obsolete childhood hypophosphatasia def: "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." [Orphanet:247667] -subset: gard_rare {source="GARD:0008735"} +subset: gard_rare {source="GARD:8735"} subset: ordo_clinical_subtype {source="Orphanet:247667"} synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735] synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667] @@ -178898,6 +181501,7 @@ synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510] synonym: "obsolete childhood hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"} +xref: GARD:8735 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667"} xref: ICD10CM:E83.3 {source="Orphanet:247667/attributed", source="Orphanet:247667/ntbt", source="MONDO:relatedTo", source="Orphanet:247667"} xref: MESH:C562440 {source="MONDO:obsoleteEquivalent"} xref: OMIM:241510 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915", source="Orphanet:247667/e"} @@ -178927,6 +181531,7 @@ is_a: MONDO:0003847 {source="MESH:C565478/inferred"} ! hereditary disease id: MONDO:0009430 name: hypophosphatemic rickets, autosomal recessive, 1 def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18416"} synonym: "Arhr" RELATED [OMIM:241520] synonym: "ARHR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241520] synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" EXACT [MONDO:design_pattern] @@ -178935,6 +181540,7 @@ synonym: "hypophosphatemia, autosomal recessive" RELATED [OMIM:241520] synonym: "hypophosphatemic rickets, AR" EXACT [OMIM:241520, OMIM:genemap2] synonym: "hypophosphatemic rickets, autosomal recessive, 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:241520] synonym: "hypophosphatemic rickets, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:241520] +xref: GARD:18416 {source="OMIM:241520"} xref: MESH:C562792 {source="MONDO:equivalentTo"} xref: OMIM:241520 {source="MONDO:equivalentTo"} xref: Orphanet:289176 {source="OMIM:241520"} @@ -178954,6 +181560,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009431 name: hereditary hypophosphatemic rickets with hypercalciuria def: "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." [Orphanet:157215] +subset: gard_rare {source="GARD:16977"} subset: ordo_disease {source="Orphanet:157215"} synonym: "HHRH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:241530, Orphanet:157215] synonym: "hypercalciuric hypophosphatemic rickets" EXACT [NCIT:C131450] @@ -178962,6 +181569,7 @@ synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450] synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [OMIM:241530, OMIM:genemap2] synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530] xref: DOID:0050947 {source="MONDO:equivalentTo"} +xref: GARD:16977 {source="Orphanet:157215"} xref: ICD10CM:E83.3 {source="Orphanet:157215/attributed", source="Orphanet:157215/ntbt", source="MONDO:relatedTo", source="Orphanet:157215"} xref: MESH:C562793 {source="MONDO:equivalentTo"} xref: NCIT:C131450 {source="MONDO:equivalentTo"} @@ -179013,12 +181621,14 @@ property_value: confidence "3.8000000000000007" xsd:double [Term] id: MONDO:0009434 name: hypoproteinemia, hypercatabolic +subset: gard_rare {source="GARD:15185"} synonym: "B2M deficiency" RELATED [OMIM:241600] synonym: "Beta-2-microglobulin deficiency" RELATED [OMIM:241600] synonym: "hypoproteinemia, hypercatabolic" EXACT [OMIM:241600] synonym: "IMD43" RELATED ABBREVIATION [OMIM:241600] synonym: "immunodeficiency 43" RELATED [OMIM:241600] xref: DOID:0111981 {source="MONDO:equivalentTo"} +xref: GARD:15185 {source="OMIM:241600"} xref: MESH:C565476 {source="MONDO:equivalentTo"} xref: OMIM:241600 {source="MONDO:equivalentTo"} xref: UMLS:C1855796 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:241600"} @@ -179030,7 +181640,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009435 name: hypospadias-intellectual disability, Goldblatt type syndrome def: "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." [Orphanet:2261] -subset: gard_rare +subset: gard_rare {source="GARD:2928"} subset: ordo_malformation_syndrome {source="Orphanet:2261"} synonym: "Goldblatt Wallis syndrome" RELATED [GARD:0002928] synonym: "Goldblatt-Wallis syndrome" EXACT [Orphanet:2261] @@ -179041,6 +181651,7 @@ synonym: "hypospadias mental retardation Goldblatt type" RELATED DEPRECATED [GAR synonym: "hypospadias mental retardation syndrome" RELATED DEPRECATED [GARD:0002928] synonym: "hypospadias-intellectual disability syndrome" RELATED [OMIM:241760] synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [OMIM:241760] +xref: GARD:2928 {source="Orphanet:2261"} xref: ICD10CM:Q87.8 {source="Orphanet:2261/attributed", source="Orphanet:2261/ntbt", source="Orphanet:2261"} xref: MESH:C563067 {source="MONDO:equivalentTo"} xref: OMIM:241760 {source="Orphanet:2261/e", source="MONDO:equivalentTo", source="Orphanet:2261", source="GARD:0002928"} @@ -179059,7 +181670,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2928/hypospa id: MONDO:0009436 name: congenital hypothalamic hamartoma syndrome def: "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." [https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas] -subset: gard_rare {source="GARD:0002934"} synonym: "congenital hypothalamic hamartoma syndrome" EXACT [OMIM:241800] synonym: "hamartoma of hypothalamus" EXACT [NCIT:C4385] synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934] @@ -179085,6 +181695,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2934/hypotha id: MONDO:0009437 name: Bamforth-Lazarus syndrome def: "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." [Orphanet:1226] +subset: gard_rare {source="GARD:414"} subset: ordo_malformation_syndrome {source="Orphanet:1226"} synonym: "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" EXACT [Orphanet:1226] synonym: "Bamforth syndrome" EXACT [Orphanet:1226] @@ -179094,6 +181705,7 @@ synonym: "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate" EXACT [D synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [OMIM:241850] synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226] xref: DOID:0050655 {source="MONDO:equivalentTo"} +xref: GARD:414 {source="Orphanet:1226"} xref: ICD10CM:E03.1 {source="Orphanet:1226", source="Orphanet:1226/attributed", source="Orphanet:1226/ntbt"} xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="Orphanet:1226/e"} xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="Orphanet:1226/e"} @@ -179111,7 +181723,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009438 name: hypouricemia, hypercalcinuria, and decreased bone density +subset: gard_rare {source="GARD:15186"} synonym: "hypouricemia, hypercalcinuria, and decreased bone density" EXACT [OMIM:242050] +xref: GARD:15186 {source="OMIM:242050"} xref: MESH:C565475 {source="MONDO:equivalentTo"} xref: OMIM:242050 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:242050"} @@ -179123,6 +181737,7 @@ property_value: confidence "2.124285714285714" xsd:double id: MONDO:0009439 name: autosomal recessive congenital ichthyosis 2 def: "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." [NCIT:C132827] +subset: gard_rare {source="GARD:15187"} synonym: "ARCI2" EXACT ABBREVIATION [DOID:0060710, MONDO:Lexical, OMIM:242100] synonym: "autosomal recessive congenital ichthyosis type 2" EXACT [DOID:0060710, MONDORULE:1] synonym: "Brocq congenital ichthyosiform erythroderma nonbullous form" EXACT [DOID:0060710] @@ -179139,6 +181754,7 @@ synonym: "NCIE" RELATED ABBREVIATION [GARD:0009736] synonym: "NCIE1" EXACT ABBREVIATION [DOID:0060710] synonym: "nonbullous congenital ichthyosiform erythroderma 1" EXACT [DOID:0060710] xref: DOID:0060710 {source="MONDO:equivalentTo"} +xref: GARD:15187 {source="OMIM:242100"} xref: ICD10CM:Q80.2 {source="DOID:0060710"} xref: NCIT:C132827 {source="MONDO:equivalentTo"} xref: OMIM:242100 {source="DOID:0060710", source="MONDO:equivalentTo"} @@ -179158,11 +181774,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009440 name: ichthyosiform erythroderma, corneal involvement, and hearing loss +subset: gard_rare {source="GARD:2946"} synonym: "Desmons syndrome" RELATED [OMIM:242150] synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" NARROW [OMIM:242150] synonym: "ichthyosiform erythroderma, corneal involvement, deafness" RELATED [GARD:0002946] synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [OMIM:242150] synonym: "KID syndrome, autosomal recessive" RELATED [OMIM:242150] +xref: GARD:2946 {source="OMIM:242150"} xref: MESH:C537363 {source="MONDO:equivalentTo"} xref: OMIM:242150 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="OMIM:242150"} @@ -179176,7 +181794,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009441 name: autosomal recessive congenital ichthyosis 1 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:3170"} synonym: "ARCI1" EXACT ABBREVIATION [DOID:0060656, MONDO:Lexical, OMIM:242300] synonym: "autosomal recessive congenital ichthyosis 1" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [DOID:0060656, MONDORULE:1] @@ -179197,6 +181815,7 @@ synonym: "lamellar exfoliation of newborn" RELATED [GARD:0003170, OMIM:242300] synonym: "lamellar ichthyosis, type 1" RELATED [GARD:0003170] synonym: "LI1" RELATED ABBREVIATION [GARD:0003170] xref: DOID:0060656 {source="MONDO:equivalentTo"} +xref: GARD:3170 {source="OMIM:242300"} xref: ICD10CM:Q80.2 {source="DOID:0060656"} xref: MESH:D017490 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:242300 {source="MONDO:equivalentTo", source="DOID:0060656", source="GARD:0003170"} @@ -179215,7 +181834,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3170/ichthyo [Term] id: MONDO:0009442 name: ichthyosis congenita with biliary atresia -subset: gard_rare synonym: "congenital ichthyosis with biliary atresia" RELATED [GARD:0002948] synonym: "ichthyosis congenita biliary atresia" RELATED [GARD:0002948] synonym: "ichthyosis congenita with biliary atresia" EXACT [OMIM:242400] @@ -179231,6 +181849,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2948/ichthyo id: MONDO:0009443 name: autosomal recessive congenital ichthyosis 4B def: "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." [Orphanet:457] +subset: gard_rare {source="GARD:6568"} subset: ordo_disease {source="Orphanet:457"} synonym: "'Harlequin fetus'" RELATED [OMIM:242500] synonym: "ARCI4B" EXACT ABBREVIATION [DOID:0060713, MONDO:Lexical, OMIM:242500] @@ -179249,6 +181868,7 @@ synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457] synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500] synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500] xref: DOID:0060713 {source="MONDO:equivalentTo"} +xref: GARD:6568 {source="Orphanet:457"} xref: ICD10CM:Q80.4 {source="Orphanet:457", source="Orphanet:457/e", source="DOID:0060713", source="Orphanet:457/specific"} xref: MedDRA:10019163 {source="Orphanet:457", source="Orphanet:457/e"} xref: NCIT:C98934 {source="MONDO:equivalentTo"} @@ -179269,6 +181889,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009444 name: ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome def: "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." [Orphanet:2269] +subset: gard_rare {source="GARD:292"} subset: ordo_disease {source="Orphanet:2269"} synonym: "ichthyosis alopecia eclabion ectropion intellectual disability" RELATED [GARD:0000292] synonym: "ichthyosis alopecia eclabion ectropion mental retardation" RELATED DEPRECATED [GARD:0000292] @@ -179276,6 +181897,7 @@ synonym: "ichthyosis with alopecia, eclabium, ectropion, and intellectual disabi synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED DEPRECATED [OMIM:242510] synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292] synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269] +xref: GARD:292 {source="Orphanet:2269"} xref: MESH:C537364 {source="MONDO:equivalentTo"} xref: OMIM:242510 {source="Orphanet:2269", source="MONDO:equivalentTo", source="Orphanet:2269/e"} xref: Orphanet:2269 {source="MONDO:equivalentTo", source="OMIM:242510"} @@ -179290,11 +181912,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009445 name: ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome def: "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." [Orphanet:2274] +subset: gard_rare {source="GARD:1993"} subset: ordo_disease {source="Orphanet:2274"} synonym: "Dykes Markes Harper syndrome" RELATED [GARD:0001993] synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274] synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274] synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520] +xref: GARD:1993 {source="Orphanet:2274"} xref: ICD10CM:Q87.8 {source="Orphanet:2274/attributed", source="Orphanet:2274/ntbt", source="Orphanet:2274"} xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535727 {source="MONDO:equivalentTo"} @@ -179312,6 +181936,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009446 name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome def: "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." [Orphanet:2278] +subset: gard_rare {source="GARD:4641"} subset: ordo_malformation_syndrome {source="Orphanet:2278"} synonym: "ichthyosis intellectual deficit dwarfism renal impairment" RELATED [GARD:0004641] synonym: "ichthyosis, intellectual disability, dwarfism and renal impairment" RELATED [GARD:0004641] @@ -179319,6 +181944,7 @@ synonym: "ichthyosis, intellectual disability, dwarfism, and renal impairment" R synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED DEPRECATED [GARD:0004641] synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [OMIM:242530] synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278] +xref: GARD:4641 {source="Orphanet:2278"} xref: MESH:C536274 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} xref: OMIM:242530 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} xref: Orphanet:2278 {source="MONDO:equivalentTo", source="OMIM:242530"} @@ -179343,11 +181969,12 @@ is_a: MONDO:0003847 {source="MESH:C565471/inferred"} ! hereditary disease id: MONDO:0009448 name: iminoglycinuria def: "A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." [Orphanet:42062] -subset: gard_rare {source="GARD:0008424"} +subset: gard_rare {source="GARD:8424"} subset: ordo_disease {source="Orphanet:42062"} synonym: "iminoglycinuria" EXACT CLINGEN_PREFERRED [OMIM:242600] synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2] xref: DOID:0112265 {source="MONDO:equivalentTo"} +xref: GARD:8424 {source="Orphanet:42062"} xref: ICD10CM:E72.0 {source="Orphanet:42062/attributed", source="Orphanet:42062/ntbt", source="Orphanet:42062"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536285 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} @@ -179364,10 +181991,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8424/iminogl [Term] id: MONDO:0009449 name: ciliary dyskinesia with defective radial spokes +subset: gard_rare {source="GARD:2981"} synonym: "cilia with defective radial spokes" RELATED [GARD:0002981] synonym: "ciliary dyskinesia with defective radial spokes" EXACT [OMIM:242670] synonym: "immotile cilia syndrome due to defective radial spokes" RELATED [OMIM:242670] synonym: "immotile cilia syndrome, due to defective radial spokes" RELATED [GARD:0002981] +xref: GARD:2981 {source="OMIM:242670"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536286 {source="MONDO:equivalentTo"} xref: OMIM:242670 {source="MONDO:equivalentTo"} @@ -179380,9 +182009,10 @@ property_value: confidence "1.0" xsd:double [Term] id: MONDO:0009450 name: ciliary dyskinesia with excessively long cilia -subset: gard_rare {source="GARD:0002982"} +subset: gard_rare {source="GARD:2982"} synonym: "ciliary dyskinesia with excessively long cilia" EXACT [OMIM:242680] synonym: "immotile cilia syndrome due to excessively long cilia" RELATED [OMIM:242680] +xref: GARD:2982 {source="OMIM:242680"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536287 {source="MONDO:equivalentTo"} xref: OMIM:242680 {source="MONDO:equivalentTo"} @@ -179396,6 +182026,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2982/ciliary [Term] id: MONDO:0009451 name: Nezelof syndrome +subset: gard_rare {source="GARD:7201"} subset: ordo_disease {source="Orphanet:83471"} synonym: "immune defect due to absence Of Thymus" RELATED [MESH:C536288] synonym: "immune defect due to absence of THYMUS" RELATED [OMIM:242700] @@ -179404,6 +182035,7 @@ synonym: "Nezelof's syndrome" EXACT [DOID:2012, ICD9CM:279.13] synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700] synonym: "thymic aplasia" RELATED [OMIM:242700] xref: DOID:2012 {source="MONDO:equivalentTo"} +xref: GARD:7201 {source="Orphanet:83471"} xref: ICD10CM:D81.4 {source="Orphanet:83471/specific", source="DOID:2012", source="Orphanet:83471/e", source="Orphanet:83471"} xref: ICD9:279.13 {source="DOID:2012"} xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo"} @@ -179421,7 +182053,7 @@ is_a: MONDO:0001222 {source="DOID:2012"} ! congenital T-cell immunodeficiency id: MONDO:0009452 name: Vici syndrome def: "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." [Orphanet:1493] -subset: gard_rare {source="GARD:0000448"} +subset: gard_rare {source="GARD:448"} subset: ordo_malformation_syndrome {source="Orphanet:1493"} synonym: "absent corpus callosum cataract immunodeficiency" RELATED [GARD:0000448] synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493] @@ -179434,6 +182066,7 @@ synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, an synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840] synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242840] xref: DOID:0060356 {source="MONDO:equivalentTo"} +xref: GARD:448 {source="Orphanet:1493"} xref: ICD10CM:Q87.8 {source="Orphanet:1493/attributed", source="Orphanet:1493/ntbt", source="Orphanet:1493"} xref: MESH:C535566 {source="DOID:0060356", source="MONDO:equivalentTo"} xref: NCIT:C138174 {source="MONDO:equivalentTo"} @@ -179471,6 +182104,7 @@ relationship: excluded_subClassOf MONDO:0003778 {source="DC-OMIM:242850", source id: MONDO:0009454 name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15188"} synonym: "centromeric instability, immunodeficiency syndrome" RELATED [OMIM:242860] synonym: "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ICF syndrome 1" EXACT [DOID:0090008] @@ -179482,6 +182116,7 @@ synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome cau synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1, OMIM:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [DOID:0090008, MONDORULE:1] xref: DOID:0090008 {source="MONDO:equivalentTo"} +xref: GARD:15188 {source="OMIM:242860"} xref: ICD10CM:D84.8 {source="DOID:0090008"} xref: NCIT:C156430 {source="MONDO:equivalentTo"} xref: OMIM:242860 {source="MONDO:equivalentTo", source="DOID:0090008"} @@ -179526,6 +182161,7 @@ id: MONDO:0009458 name: Schimke immuno-osseous dysplasia def: "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." [https://orcid.org/0000-0001-5208-3432, Orphanet:1830] subset: clingen +subset: gard_rare {source="GARD:4984"} subset: ordo_disease {source="Orphanet:1830"} synonym: "immunoosseous dysplasia Schimke type" EXACT [DOID:0060490] synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [OMIM:242900] @@ -179539,6 +182175,7 @@ synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490 synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984] synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830] xref: DOID:0060490 {source="MONDO:equivalentTo"} +xref: GARD:4984 {source="Orphanet:1830"} xref: ICD10CM:Q77.7 {source="Orphanet:1830", source="Orphanet:1830/attributed", source="Orphanet:1830/ntbt"} xref: MedDRA:10048699 {source="Orphanet:1830", source="Orphanet:1830/e"} xref: MESH:C536629 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} @@ -179557,6 +182194,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009459 name: channelopathy-associated congenital insensitivity to pain, autosomal recessive def: "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699] +subset: gard_rare {source="GARD:12267"} subset: ordo_disease {source="Orphanet:88642"} synonym: "asymbolia for pain" RELATED [OMIM:243000] synonym: "channelopathy-associated CIP" EXACT [Orphanet:88642] @@ -179569,6 +182207,7 @@ synonym: "insensitivity to pain, channelopathy-associated" RELATED [OMIM:243000] synonym: "insensitivity to pain, congenital" EXACT [OMIM:243000, OMIM:genemap2] synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000] synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [OMIM:243000, OMIM:genemap2] +xref: GARD:12267 {source="Orphanet:88642"} xref: ICD10CM:G60.8 {source="Orphanet:88642", source="Orphanet:88642/attributed", source="Orphanet:88642/ntbt"} xref: MESH:D000699 {source="Orphanet:88642", source="Orphanet:88642/e"} xref: MESH:D009477 {source="Orphanet:88642", source="Orphanet:88642/e"} @@ -179601,6 +182240,7 @@ is_a: MONDO:0003847 {source="MESH:C565466/inferred"} ! hereditary disease id: MONDO:0009461 name: spermatogenic failure 5 def: "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." [Orphanet:137893] +subset: gard_rare {source="GARD:12385"} subset: ordo_clinical_subtype {source="Orphanet:137893"} synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [OMIM:243060] synonym: "infertility associated with multitailed spermatozoa and excessive DNA" RELATED [OMIM:243060] @@ -179613,6 +182253,7 @@ synonym: "spermatogenic failure 5" EXACT [MONDO:Lexical, OMIM:243060] synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060] synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243060] xref: DOID:0070183 {source="MONDO:equivalentTo"} +xref: GARD:12385 {source="Orphanet:137893"} xref: ICD10CM:N46 {source="Orphanet:137893/attributed", source="Orphanet:137893/ntbt", source="Orphanet:137893"} xref: MESH:C562903 {source="MONDO:equivalentTo"} xref: OMIM:243060 {source="Orphanet:137893/e", source="MONDO:equivalentTo", source="Orphanet:137893"} @@ -179658,7 +182299,7 @@ id: MONDO:0009465 name: multiple intestinal atresia def: "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." [https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) -subset: gard_rare {source="GARD:0003013"} +subset: gard_rare {source="GARD:3013"} subset: ordo_disease {source="Orphanet:436252"} subset: ordo_morphological_anomaly {source="Orphanet:2300"} synonym: "CID-MIA/early-onset IBD" RELATED [Orphanet:436252] @@ -179672,6 +182313,7 @@ synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671] synonym: "multiple intestinal atresia" EXACT CLINGEN_PREFERRED [] xref: DOID:14671 {source="MONDO:equivalentTo"} +xref: GARD:3013 {source="Orphanet:2300"} xref: ICD10CM:Q43.8 {source="Orphanet:2300", source="Orphanet:2300/attributed", source="Orphanet:2300/ntbt"} xref: ICD10CM:Q82.8 {source="Orphanet:436252/attributed", source="Orphanet:436252/ntbt", source="Orphanet:436252"} xref: ICD9:751.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -179718,7 +182360,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009468 name: pseudotumor cerebri def: "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." [Orphanet:238624] -subset: gard_rare {source="GARD:0004561"} +subset: gard_rare {source="GARD:4561"} subset: ordo_disease {source="Orphanet:238624"} synonym: "benign intracran. hypt." EXACT [DOID:11459] synonym: "benign intracranial hypertension" EXACT [DOID:11459, ICD9CM:348.2, Orphanet:238624] @@ -179728,6 +182370,7 @@ synonym: "intracranial hypertension, idiopathic" RELATED [OMIM:243200] synonym: "pseudotumor cerebri" EXACT [DOID:11459, OMIM:243200, Orphanet:238624] xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"} xref: EFO:1001132 {source="MONDO:equivalentTo"} +xref: GARD:4561 {source="Orphanet:238624"} xref: ICD10CM:G93.2 {source="DOID:11459", source="Orphanet:238624", source="Orphanet:238624/e"} xref: ICD9:348.2 {source="DOID:11459", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037149 {source="EFO:1001132"} @@ -179748,7 +182391,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4561/pseudot id: MONDO:0009469 name: benign recurrent intrahepatic cholestasis type 1 def: "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." [GARD:0010028] -subset: gard_rare +subset: gard_rare {source="GARD:10028"} subset: ordo_clinical_subtype {source="Orphanet:99960"} synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028] @@ -179763,6 +182406,7 @@ synonym: "mild ATP8B1 deficiency" RELATED [GARD:0010028] synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028] synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300] xref: DOID:0070231 {source="MONDO:equivalentTo"} +xref: GARD:10028 {source="Orphanet:99960"} xref: ICD10CM:K83.1 {source="Orphanet:99960/attributed", source="Orphanet:99960/ntbt", source="Orphanet:99960"} xref: MESH:C535930 {source="Orphanet:99960/e", source="Orphanet:99960"} xref: OMIM:243300 {source="Orphanet:99960/e", source="MONDO:equivalentTo", source="GARD:0010028", source="Orphanet:99960"} @@ -179784,6 +182428,7 @@ id: MONDO:0009470 name: Baraitser-Winter syndrome 1 def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:15189"} synonym: "ACTB Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ACTB-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB" EXACT [MONDO:design_pattern] @@ -179802,6 +182447,7 @@ synonym: "mental retardation with epilepsy and characteristic facies" RELATED DE synonym: "pachygyria, intellectual disability, epilepsy, and characteristic facies" RELATED [OMIM:243310] synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" RELATED DEPRECATED [OMIM:243310] xref: DOID:0081112 {source="MONDO:equivalentTo"} +xref: GARD:15189 {source="OMIM:243310"} xref: OMIM:243310 {source="MONDO:equivalentTo"} xref: Orphanet:2995 {source="OMIM:243310"} xref: UMLS:C1837819 {source="MONDO:equivalentTo"} @@ -179818,7 +182464,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009471 name: intrinsic factor and r binder, combined congenital deficiency of +subset: gard_rare {source="GARD:15190"} synonym: "intrinsic factor and r binder, combined congenital deficiency of" EXACT [OMIM:243320] +xref: GARD:15190 {source="OMIM:243320"} xref: MESH:C565461 {source="MONDO:equivalentTo"} xref: OMIM:243320 {source="MONDO:equivalentTo"} xref: Orphanet:332 {source="OMIM:243320"} @@ -179850,6 +182498,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009473 name: isotretinoin-like syndrome def: "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." [Orphanet:2306] +subset: gard_rare {source="GARD:9675"} subset: ordo_malformation_syndrome {source="Orphanet:2306"} synonym: "Isotretinoin embryopathy like syndrome" RELATED [GARD:0009675] synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [OMIM:243440] @@ -179858,6 +182507,7 @@ synonym: "microtia aortic arch syndrome" RELATED [GARD:0009675] synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440] synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306] synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675] +xref: GARD:9675 {source="Orphanet:2306"} xref: ICD10CM:Q87.8 {source="Orphanet:2306", source="Orphanet:2306/attributed", source="Orphanet:2306/ntbt"} xref: MESH:C535542 {source="MONDO:equivalentTo"} xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="Orphanet:2306/e"} @@ -179882,7 +182532,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009475 name: isovaleric acidemia def: "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." [Orphanet:33] -subset: gard_rare {source="GARD:0000465"} +subset: gard_rare {source="GARD:465"} subset: ordo_disease {source="Orphanet:33"} synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, Orphanet:33] synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [OMIM:243500] @@ -179894,6 +182544,7 @@ synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98964] synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243500] synonym: "IVD deficiency" RELATED [OMIM:243500] xref: DOID:14753 {source="MONDO:equivalentTo"} +xref: GARD:465 {source="Orphanet:33"} xref: ICD10CM:E71.1 {source="Orphanet:33/ntbt", source="Orphanet:33", source="Orphanet:33/inclusion"} xref: ICD10CM:E71.110 {source="MONDO:equivalentTo", source="DOID:14753"} xref: MESH:C538167 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"} @@ -179913,7 +182564,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/465/isovaler id: MONDO:0009476 name: atresia of small intestine def: "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." [Orphanet:1201] -subset: gard_rare +subset: gard_rare {source="GARD:140"} subset: ordo_morphological_anomaly {source="Orphanet:1201"} synonym: "apple peel small bowel syndrome" RELATED [OMIM:243600] synonym: "apple peel syndrome" EXACT [Orphanet:1201] @@ -179928,6 +182579,7 @@ synonym: "jejunal atresia" EXACT [Orphanet:1201] synonym: "Jejunoileal atresia" EXACT [GARD:0000140, Orphanet:1201] synonym: "small intestinal atresia" EXACT [Orphanet:1201] synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828] +xref: GARD:140 {source="Orphanet:1201"} xref: ICD10CM:Q41.0 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} xref: ICD10CM:Q41.1 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} xref: ICD10CM:Q41.2 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} @@ -179952,6 +182604,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009477 name: Stromme syndrome def: "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." [https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/] +subset: gard_rare {source="GARD:17945", source="GARD:18654"} subset: ordo_malformation_syndrome {source="Orphanet:444069"} synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595] synonym: "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" EXACT [Orphanet:506307] @@ -179968,6 +182621,8 @@ synonym: "Stromme syndrome" EXACT [OMIM:243605] synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605] xref: DOID:0110595 {source="MONDO:equivalentTo"} xref: EFO:0009160 {source="MONDO:equivalentTo"} +xref: GARD:17945 {source="Orphanet:506307"} +xref: GARD:18654 {source="Orphanet:444069"} xref: ICD10CM:Q87.8 {source="Orphanet:444069", source="Orphanet:444069/attributed", source="Orphanet:444069/ntbt", source="DOID:0110595"} xref: MESH:C565460 {source="MONDO:equivalentTo"} xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="Orphanet:444069/nd", source="MONDO:equivalentTo", source="DOID:0110595"} @@ -179990,7 +182645,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009478 name: combined immunodeficiency due to DOCK8 deficiency def: "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." [Orphanet:217390] -subset: gard_rare +subset: gard_rare {source="GARD:2816"} subset: ordo_disease {source="Orphanet:217390"} synonym: "AR hyperimmunoglobulin E syndrome" RELATED [GARD:0002816] synonym: "AR-HIES" RELATED [GARD:0002816] @@ -180008,6 +182663,7 @@ synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [ synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816] xref: DOID:0080594 {source="MONDO:equivalentTo"} +xref: GARD:2816 {source="Orphanet:217390"} xref: ICD10CM:D81.1 {source="Orphanet:217390/attributed", source="Orphanet:217390/ntbt", source="Orphanet:217390"} xref: NCIT:C126343 {source="MONDO:equivalentTo"} xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source="Orphanet:217390/e", source="GARD:0002816"} @@ -180025,7 +182681,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2816/autosom id: MONDO:0009479 name: Johanson-Blizzard syndrome def: "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." [Orphanet:2315] -subset: gard_rare +subset: gard_rare {source="GARD:80"} subset: ordo_malformation_syndrome {source="Orphanet:2315"} synonym: "JBS" EXACT ABBREVIATION [Orphanet:2315] synonym: "Johanson-BLIZZARD syndrome" RELATED [OMIM:243800] @@ -180035,6 +182691,7 @@ synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congeni synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450] xref: DOID:14694 {source="MONDO:equivalentTo"} xref: EFO:0001063 {source="MONDO:equivalentTo"} +xref: GARD:80 {source="Orphanet:2315"} xref: ICD10CM:Q87.8 {source="Orphanet:2315", source="Orphanet:2315/attributed", source="Orphanet:2315/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e"} @@ -180066,7 +182723,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009480 name: Joubert syndrome with oculorenal defect def: "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." [Orphanet:2318] -subset: gard_rare +subset: gard_rare {source="GARD:9455"} subset: ordo_disease {source="Orphanet:2318"} synonym: "Arima syndrome" EXACT [Orphanet:2318] synonym: "cerebello-oculo-renal syndrome" RELATED [GARD:0009455] @@ -180085,6 +182742,7 @@ synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455] synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318] synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318] synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318] +xref: GARD:9455 {source="Orphanet:2318"} xref: ICD10CM:Q04.3 {source="Orphanet:2318/attributed", source="Orphanet:2318/ntbt", source="Orphanet:2318"} xref: MESH:C537430 {source="MONDO:equivalentTo"} xref: OMIM:243910 {source="Orphanet:2318/e", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455"} @@ -180117,6 +182775,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009482 name: hypogonadotropic hypogonadism 3 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:3073"} synonym: "HH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244200] synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [MONDO:Lexical, OMIM:244200] synonym: "hypogonadotropic hypogonadism caused by mutation in PROKR2" EXACT [MONDO:design_pattern] @@ -180124,6 +182783,7 @@ synonym: "KAL3" RELATED ABBREVIATION [GARD:0003073] synonym: "Kallmann syndrome 3" RELATED [GARD:0003073] synonym: "PROKR2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090092 {source="MONDO:equivalentTo"} +xref: GARD:3073 {source="OMIM:244200"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090092"} xref: OMIM:244200 {source="MONDO:equivalentTo", source="DOID:0090092"} xref: Orphanet:478 {source="OMIM:244200"} @@ -180140,13 +182800,14 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0009483 name: Kapur-Toriello syndrome def: "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." [Orphanet:2328] -subset: gard_rare {source="GARD:0003078"} +subset: gard_rare {source="GARD:3078"} subset: ordo_malformation_syndrome {source="Orphanet:2328"} synonym: "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" EXACT [Orphanet:2328] synonym: "kapur Toriello syndrome" RELATED [GARD:0003078] synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300] synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078] synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300] +xref: GARD:3078 {source="Orphanet:2328"} xref: ICD10CM:Q87.8 {source="Orphanet:2328", source="Orphanet:2328/attributed", source="Orphanet:2328/ntbt"} xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} @@ -180194,6 +182855,7 @@ property_value: confidence "1.0" xsd:double [Term] id: MONDO:0009485 name: oculocerebrofacial syndrome, Kaufman type +subset: gard_rare {source="GARD:3084"} subset: ordo_malformation_syndrome {source="Orphanet:2707"} synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [OMIM:244450] synonym: "BPIDS" EXACT ABBREVIATION [OMIM:244450] @@ -180204,6 +182866,7 @@ synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT CLINGEN_PREFERRED [] synonym: "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED [GARD:0003084] synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED DEPRECATED [GARD:0003084] xref: DOID:0111456 {source="MONDO:equivalentTo"} +xref: GARD:3084 {source="Orphanet:2707"} xref: ICD10CM:Q87.0 {source="Orphanet:2707/attributed", source="Orphanet:2707/ntbt", source="Orphanet:2707"} xref: MESH:C537013 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} xref: OMIM:244450 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} @@ -180223,7 +182886,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009486 name: autosomal recessive Kenny-Caffey syndrome def: "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." [NCIT:C130992] -subset: gard_rare +subset: gard_rare {source="GARD:8367"} subset: ordo_etiological_subtype {source="Orphanet:93324"} synonym: "Kcs" RELATED [OMIM:244460] synonym: "KCS1" RELATED ABBREVIATION [GARD:0008367, MONDO:Lexical, OMIM:244460] @@ -180231,6 +182894,7 @@ synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460] synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460] xref: DOID:0080722 {source="MONDO:equivalentTo"} +xref: GARD:8367 {source="Orphanet:93324"} xref: ICD10CM:Q87.1 {source="Orphanet:93324", source="Orphanet:93324/attributed", source="Orphanet:93324/ntbt"} xref: MESH:C537021 {source="MONDO:equivalentTo"} xref: NCIT:C130992 {source="MONDO:equivalentTo"} @@ -180260,7 +182924,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009488 name: keratoconus posticus circumscriptus -subset: gard_rare {source="GARD:0003091"} synonym: "keratoconus posticus CIRCUMSCRIPTUS" RELATED [OMIM:244600] synonym: "keratoconus posticus circumscriptus" EXACT [MONDO:Lexical, OMIM:244600] synonym: "KPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244600] @@ -180276,11 +182939,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3091/keratoc id: MONDO:0009489 name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type def: "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." [Orphanet:86923] +subset: gard_rare {source="GARD:16767"} subset: ordo_disease {source="Orphanet:86923"} synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [Orphanet:86923] synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850] synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923] synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244850] +xref: GARD:16767 {source="Orphanet:86923"} xref: ICD10CM:Q82.8 {source="Orphanet:86923", source="Orphanet:86923/attributed", source="Orphanet:86923/ntbt"} xref: MESH:C565454 {source="MONDO:equivalentTo"} xref: OMIM:244850 {source="MONDO:equivalentTo", source="Orphanet:86923", source="Orphanet:86923/e"} @@ -180298,6 +182963,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009490 name: Papillon-Lefevre disease def: "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." [Orphanet:678] +subset: gard_rare {source="GARD:3100"} subset: ordo_disease {source="Orphanet:678"} synonym: "hyperkeratosis palmoplantaris with periodontosis" RELATED [GARD:0003100] synonym: "Keratoris palmoplantaris with periodontopathia" RELATED [GARD:0003100] @@ -180314,6 +182980,7 @@ synonym: "Papillon-LEFèvre syndrome" RELATED [Orphanet:678] synonym: "PLS" EXACT ABBREVIATION [Orphanet:678] synonym: "Pls" RELATED [OMIM:245000] xref: DOID:3389 {source="MONDO:equivalentTo"} +xref: GARD:3100 {source="Orphanet:678"} xref: ICD10CM:Q82.8 {source="Orphanet:678", source="Orphanet:678/attributed", source="Orphanet:678/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010214 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"} @@ -180336,7 +183003,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0009491 name: Haim-Munk syndrome def: "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." [Orphanet:2342] -subset: gard_rare {source="GARD:0000044"} +subset: gard_rare {source="GARD:44"} subset: ordo_disease {source="Orphanet:2342"} synonym: "Cochin Jewish disorder" RELATED [OMIM:245010] synonym: "HAIM-Munk syndrome" RELATED [OMIM:245010] @@ -180346,6 +183013,7 @@ synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" REL synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] +xref: GARD:44 {source="Orphanet:2342"} xref: ICD10CM:Q82.8 {source="Orphanet:2342", source="Orphanet:2342/attributed", source="Orphanet:2342/ntbt"} xref: MESH:C537627 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} xref: OMIM:245010 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} @@ -180365,6 +183033,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/44/haim-munk id: MONDO:0009492 name: succinyl-CoA:3-ketoacid CoA transferase deficiency def: "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." [Orphanet:832] +subset: gard_rare {source="GARD:4774"} subset: ordo_disease {source="Orphanet:832"} synonym: "3-oxoacid CoA transferase deficiency" RELATED [GARD:0004774] synonym: "ketoacidosis due to Scot deficiency" RELATED [OMIM:245050] @@ -180379,6 +183048,7 @@ synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [OMIM:2450 synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832] synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050] synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050] +xref: GARD:4774 {source="Orphanet:832"} xref: ICD10CM:E71.3 {source="Orphanet:832", source="Orphanet:832/attributed", source="Orphanet:832/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537527 {source="MONDO:equivalentTo"} @@ -180395,6 +183065,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009493 name: Richards-Rundle syndrome def: "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." [Orphanet:1399] +subset: gard_rare {source="GARD:8423"} subset: ordo_malformation_syndrome {source="Orphanet:1399"} synonym: "ataxia-deafness-intellectual disability syndrome" RELATED [OMIM:245100] synonym: "ataxia-deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:245100] @@ -180406,6 +183077,7 @@ synonym: "ketoaciduria-mental deficiency syndrome" RELATED [GARD:0008423] synonym: "RICHARDS-RUNDLE syndrome" RELATED [OMIM:245100] synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100] synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100] +xref: GARD:8423 {source="Orphanet:1399"} xref: ICD10CM:G60.2 {source="Orphanet:1399/attributed", source="Orphanet:1399/ntbt", source="Orphanet:1399"} xref: MESH:C535674 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: OMIM:245100 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} @@ -180428,7 +183100,7 @@ replaced_by: MONDO:0008774 id: MONDO:0009495 name: Keutel syndrome def: "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." [Orphanet:85202] -subset: gard_rare {source="GARD:0008449"} +subset: gard_rare {source="GARD:8449"} subset: ordo_malformation_syndrome {source="Orphanet:85202"} synonym: "KEUTEL syndrome" RELATED [OMIM:245150] synonym: "Keutel syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:245150] @@ -180436,6 +183108,7 @@ synonym: "KTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245150] synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages" RELATED [GARD:0008449] synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150] synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202] +xref: GARD:8449 {source="Orphanet:85202"} xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="Orphanet:85202/attributed", source="Orphanet:85202/ntbt"} xref: MESH:C536167 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: OMIM:245150 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} @@ -180465,7 +183138,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009497 name: Kifafa seizure disorder -subset: gard_rare {source="GARD:0008420"} synonym: "Complex familial seizure disorder" RELATED [GARD:0008420] synonym: "Kifafa seizure disorder" EXACT [OMIM:245180] synonym: "parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes" RELATED [GARD:0008420] @@ -180481,11 +183153,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8420/kifafa- id: MONDO:0009498 name: lethal Kniest-like dysplasia def: "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." [Orphanet:2347] -subset: gard_rare {source="GARD:0003124"} +subset: gard_rare {source="GARD:3124"} subset: ordo_malformation_syndrome {source="Orphanet:2347"} synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED [GARD:0003124] synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124] synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190] +xref: GARD:3124 {source="Orphanet:2347"} xref: ICD10CM:Q77.8 {source="Orphanet:2347", source="Orphanet:2347/attributed", source="Orphanet:2347/ntbt"} xref: MESH:C537208 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} xref: OMIM:245190 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} @@ -180504,6 +183177,7 @@ id: MONDO:0009499 name: Krabbe disease def: "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." [Orphanet:487] comment: Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] +subset: gard_rare {source="GARD:6844"} subset: ordo_disease {source="Orphanet:487"} synonym: "beta galactocerebrosidase deficiency" EXACT [DOID:10587] synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587] @@ -180520,6 +183194,7 @@ synonym: "Krabbe leukodystrophy" RELATED [GARD:0006844] synonym: "Krabbe's disease" EXACT [DOID:10587] synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587] xref: DOID:10587 {source="MONDO:equivalentTo"} +xref: GARD:6844 {source="Orphanet:487"} xref: ICD10CM:E75.2 {source="Orphanet:487/ntbt", source="Orphanet:487/inclusion", source="Orphanet:487"} xref: ICD10CM:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"} xref: MedDRA:10023492 {source="Orphanet:487/e", source="Orphanet:487"} @@ -180542,9 +183217,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009500 name: kuru, susceptibility to +subset: gard_rare {source="GARD:15191"} subset: predisposition synonym: "kuru, susceptibility to" EXACT [OMIM:245300] synonym: "susceptibility to kuru" RELATED [OMIM:245300] +xref: GARD:15191 {source="OMIM:245300"} xref: OMIM:245300 {source="MONDO:equivalentTo"} xref: UMLS:C1855588 {source="MONDO:equivalentTo", source="OMIM:245300", source="MONDO:ncbi_mim2gene_medline"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -180558,9 +183235,11 @@ property_value: confidence "2.0724637681159432" xsd:double id: MONDO:0009501 name: metabolic myopathy due to lactate transporter defect def: "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." [Orphanet:171690] +subset: gard_rare {source="GARD:17067"} subset: ordo_disease {source="Orphanet:171690"} synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690] synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340] +xref: GARD:17067 {source="Orphanet:171690"} xref: ICD10CM:G72.8 {source="Orphanet:171690/attributed", source="Orphanet:171690/ntbt", source="Orphanet:171690"} xref: MESH:C565449 {source="MONDO:equivalentTo"} xref: OMIM:245340 {source="Orphanet:171690", source="MONDO:equivalentTo", source="Orphanet:171690/e"} @@ -180575,6 +183254,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0009502 name: pyruvate dehydrogenase E2 deficiency def: "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." [Orphanet:79244] +subset: gard_rare {source="GARD:16712"} subset: ordo_clinical_subtype {source="Orphanet:79244"} synonym: "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] synonym: "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] @@ -180582,6 +183262,7 @@ synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruv synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245348] synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244] synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348] +xref: GARD:16712 {source="Orphanet:79244"} xref: ICD10CM:E74.4 {source="Orphanet:79244/attributed", source="Orphanet:79244/ntbt", source="Orphanet:79244"} xref: MESH:C565448 {source="MONDO:equivalentTo"} xref: OMIM:245348 {source="Orphanet:79244/e", source="MONDO:equivalentTo", source="Orphanet:79244"} @@ -180596,6 +183277,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0009503 name: pyruvate dehydrogenase E3-binding protein deficiency def: "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." [Orphanet:255182] +subset: gard_rare {source="GARD:17237"} subset: ordo_clinical_subtype {source="Orphanet:255182"} synonym: "2-oxoglutarate complex deficiency" EXACT [Orphanet:255182] synonym: "branched chain alpha-ketoacid dehydrogenase complex deficiency" EXACT [Orphanet:255182] @@ -180610,6 +183292,7 @@ synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphane synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [OMIM:245349] synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:245349] synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182] +xref: GARD:17237 {source="Orphanet:255182"} xref: ICD10CM:E74.4 {source="Orphanet:255182", source="Orphanet:255182/attributed", source="Orphanet:255182/ntbt"} xref: MESH:C565447 {source="MONDO:equivalentTo"} xref: OMIM:245349 {source="Orphanet:255182/e", source="MONDO:equivalentTo", source="Orphanet:255182"} @@ -180625,7 +183308,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009504 name: mitochondrial DNA depletion syndrome 9 def: "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." [Orphanet:17] -subset: gard_rare +subset: gard_rare {source="GARD:3163"} subset: ordo_disease {source="Orphanet:17"} synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [Orphanet:17] synonym: "lactic acidosis congenital infantile" RELATED [GARD:0003163] @@ -180639,6 +183322,7 @@ synonym: "MTDPS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245400] synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-6330-7526, PMID:26475597, PMID:31240156] synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080128 {source="MONDO:equivalentTo"} +xref: GARD:3163 {source="Orphanet:17"} xref: ICD10CM:E71.1 {source="Orphanet:17", source="Orphanet:17/attributed", source="Orphanet:17/ntbt"} xref: MESH:C538134 {source="MONDO:equivalentTo"} xref: MESH:C566885 {source="MONDO:equivalentTo"} @@ -180671,6 +183355,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009506 name: specific granule deficiency +subset: gard_rare {source="GARD:10778"} subset: ordo_disease {source="Orphanet:169142"} synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480] synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480] @@ -180678,6 +183363,7 @@ synonym: "neutrophil-specific granule deficiency" EXACT [Orphanet:169142] synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphanet:169142] synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245480] synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480] +xref: GARD:10778 {source="Orphanet:169142"} xref: ICD10CM:D71 {source="Orphanet:169142/attributed", source="Orphanet:169142/ntbt", source="Orphanet:169142"} xref: MESH:C562873 {source="MONDO:equivalentTo"} xref: OMIMPS:245480 {source="MONDO:equivalentTo"} @@ -180693,12 +183379,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0009507 name: Lambert syndrome def: "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." [Orphanet:1296] -subset: gard_rare {source="GARD:0003169"} +subset: gard_rare {source="GARD:3169"} subset: ordo_malformation_syndrome {source="Orphanet:1296"} synonym: "branchial dysplasia clubfoot inguinal hernia and biliary atresia" RELATED [GARD:0003169] synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [OMIM:245550] synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296] synonym: "Lambert syndrome" EXACT [OMIM:245550] +xref: GARD:3169 {source="Orphanet:1296"} xref: ICD10CM:Q87.8 {source="Orphanet:1296", source="Orphanet:1296/attributed", source="Orphanet:1296/ntbt"} xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} @@ -180723,7 +183410,7 @@ is_a: MONDO:0003847 {source="MESH:C537549/inferred"} ! hereditary disease id: MONDO:0009509 name: Landau-Kleffner syndrome def: "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." [https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome] -subset: gard_rare {source="GARD:0006855"} +subset: gard_rare {source="GARD:6855"} subset: ordo_disease {source="Orphanet:98818"} synonym: "acquired aphasia with convulsive disorder" RELATED [GARD:0006855] synonym: "acquired epileptic aphasia" EXACT [DOID:2538, Orphanet:98818] @@ -180741,6 +183428,7 @@ synonym: "Rolandic epilepsy, intellectual disability, and speech dyspraxia, auto synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED DEPRECATED [OMIM:245570] xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"} xref: EFO:1001010 {source="MONDO:equivalentTo"} +xref: GARD:6855 {source="Orphanet:98818"} xref: ICD10CM:G40.8 {source="DOID:2538"} xref: MedDRA:10052075 {source="Orphanet:98818/e", source="Orphanet:98818"} xref: MedDRA:10052083 {source="EFO:1001010"} @@ -180777,6 +183465,7 @@ replaced_by: MONDO:0100211 id: MONDO:0009511 name: Larsen-like syndrome, B3GAT3 type def: "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." [Orphanet:284139] +subset: gard_rare {source="GARD:17308"} subset: ordo_malformation_syndrome {source="Orphanet:284139"} synonym: "JDSCD" RELATED ABBREVIATION [OMIM:245600] synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600] @@ -180787,6 +183476,7 @@ synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [OMIM:245600, OMIM:genemap2] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139] xref: DOID:0080575 {source="MONDO:equivalentTo"} +xref: GARD:17308 {source="Orphanet:284139"} xref: ICD10CM:Q74.8 {source="Orphanet:284139", source="Orphanet:284139/attributed", source="Orphanet:284139/ntbt"} xref: MESH:C537874 {source="MONDO:equivalentTo"} xref: OMIM:245600 {source="Orphanet:284139/e", source="MONDO:equivalentTo", source="Orphanet:284139"} @@ -180809,9 +183499,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009512 name: lethal Larsen-like syndrome def: "Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." [Orphanet:2371] +subset: gard_rare {source="GARD:3181"} subset: ordo_malformation_syndrome {source="Orphanet:2371"} synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181] synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650] +xref: GARD:3181 {source="Orphanet:2371"} xref: ICD10CM:Q74.8 {source="Orphanet:2371/attributed", source="Orphanet:2371/ntbt", source="Orphanet:2371"} xref: MESH:C537872 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: OMIM:245650 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} @@ -180827,6 +183519,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009513 name: laryngo-onycho-cutaneous syndrome def: "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." [Orphanet:2407] +subset: gard_rare {source="GARD:368"} subset: ordo_disease {source="Orphanet:2407"} synonym: "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" EXACT [Orphanet:2407] synonym: "laryngo-onycho-cutaneous syndrome" EXACT [Orphanet:2407] @@ -180835,6 +183528,7 @@ synonym: "LOC syndrome" EXACT [Orphanet:2407] synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245660] synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407] synonym: "Shabbir syndrome" EXACT [Orphanet:2407] +xref: GARD:368 {source="Orphanet:2407"} xref: ICD10CM:Q81.8 {source="Orphanet:2407", source="Orphanet:2407/attributed", source="Orphanet:2407/ntbt"} xref: MESH:C537032 {source="MONDO:equivalentTo"} xref: OMIM:245660 {source="Orphanet:2407/e", source="MONDO:equivalentTo", source="Orphanet:2407"} @@ -180855,7 +183549,7 @@ id: MONDO:0009514 name: Laurence-Moon syndrome def: "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." [Orphanet:2377] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0012635"} +subset: gard_rare {source="GARD:12635"} subset: ordo_malformation_syndrome {source="Orphanet:2377"} synonym: "Laurence-MOON syndrome" RELATED [OMIM:245800] synonym: "Laurence-Moon syndrome" EXACT [MONDO:Lexical, OMIM:245800] @@ -180863,6 +183557,7 @@ synonym: "Laurence-Moon-Biedl syndrome" RELATED [DOID:1930] synonym: "LMS" EXACT ABBREVIATION [Orphanet:2377] synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800] xref: DOID:1930 {source="MONDO:equivalentTo"} +xref: GARD:12635 {source="Orphanet:2377"} xref: ICD10CM:Q87.8 {source="Orphanet:2377/inclusion", source="Orphanet:2377", source="Orphanet:2377/ntbt"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056710 {source="Orphanet:2377", source="Orphanet:2377/e"} @@ -180892,6 +183587,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12635/lauren id: MONDO:0009515 name: Norum disease def: "A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." [https://orcid.org/0000-0001-5208-3432, Orphanet:79293] +subset: gard_rare {source="GARD:4011"} subset: ordo_clinical_subtype {source="Orphanet:79293"} synonym: "complete LCAT deficiency" EXACT [Orphanet:79293] synonym: "familial LCAT deficiency" RELATED [Orphanet:79293] @@ -180901,6 +183597,7 @@ synonym: "lecithin acyltransferase deficiency" EXACT [DOID:1391] synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMIM:245900] synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293] xref: DOID:1391 {source="MONDO:equivalentTo"} +xref: GARD:4011 {source="Orphanet:79293"} xref: ICD10CM:E78.6 {source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/attributed", source="Orphanet:79293/ntbt"} xref: MESH:D007863 {source="DOID:1391"} xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391"} @@ -180923,8 +183620,10 @@ property_value: confidence "5.250000000000002" xsd:double id: MONDO:0009516 name: absence deformity of leg-cataract syndrome def: "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." [Orphanet:2310] +subset: gard_rare {source="GARD:16593"} subset: ordo_malformation_syndrome {source="Orphanet:2310"} synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000] +xref: GARD:16593 {source="Orphanet:2310"} xref: MESH:C565442 {source="MONDO:equivalentTo"} xref: OMIM:246000 {source="Orphanet:2310", source="MONDO:equivalentTo", source="Orphanet:2310/e"} xref: Orphanet:2310 {source="OMIM:246000", source="MONDO:equivalentTo"} @@ -180940,11 +183639,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009517 name: Donohue syndrome def: "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." [Orphanet:508] +subset: gard_rare {source="GARD:6885"} subset: ordo_malformation_syndrome {source="Orphanet:508"} synonym: "Donohue syndrome" EXACT [OMIM:246200, Orphanet:508] synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200] synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200] xref: DOID:0050470 {source="MONDO:equivalentTo"} +xref: GARD:6885 {source="Orphanet:508"} xref: ICD10CM:E34.8 {source="Orphanet:508", source="Orphanet:508/index", source="Orphanet:508/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056731 {source="MONDO:equivalentTo", source="DOID:0050470"} @@ -180974,6 +183675,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009518 name: leprosy, susceptibility to, 3 def: "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15192"} subset: predisposition synonym: "leprosy caused by mutation in TLR2" EXACT [MONDO:design_pattern] synonym: "leprosy, susceptibility to" EXACT [OMIM:246300, OMIM:genemap2] @@ -180982,6 +183684,7 @@ synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:246300] synonym: "LPRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246300] synonym: "susceptibility to leprosy 3" RELATED [OMIM:246300] synonym: "TLR2 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15192 {source="OMIM:246300"} xref: OMIM:246300 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:246300"} xref: UMLS:C1968668 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:246300"} @@ -181019,6 +183722,7 @@ property_value: confidence "0.43999999999999995" xsd:double id: MONDO:0009520 name: 3-hydroxy-3-methylglutaric aciduria def: "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." [Orphanet:20] +subset: gard_rare {source="GARD:8387"} subset: ordo_disease {source="Orphanet:20"} synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT CLINGEN_PREFERRED [] synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [MONDO:Lexical, OMIM:246450, Orphanet:20] @@ -181033,6 +183737,7 @@ synonym: "Hmgcl deficiency" RELATED [OMIM:246450] synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246450] synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20] synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523] +xref: GARD:8387 {source="Orphanet:20"} xref: ICD10CM:E71.1 {source="Orphanet:20", source="Orphanet:20/attributed", source="Orphanet:20/ntbt"} xref: MESH:C538324 {source="MONDO:equivalentTo"} xref: NCIT:C84523 {source="MONDO:equivalentTo"} @@ -181061,11 +183766,13 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0009522 name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome def: "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." [Orphanet:1816] +subset: gard_rare {source="GARD:2044"} subset: ordo_malformation_syndrome {source="Orphanet:1816"} synonym: "Berlin syndrome" EXACT [Orphanet:1816] synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816] synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" RELATED [OMIM:246500] synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" RELATED DEPRECATED [OMIM:246500] +xref: GARD:2044 {source="Orphanet:1816"} xref: ICD10CM:Q82.4 {source="Orphanet:1816/attributed", source="Orphanet:1816/ntbt", source="Orphanet:1816"} xref: MESH:C565440 {source="MONDO:equivalentTo"} xref: OMIM:246500 {source="Orphanet:1816/e", source="MONDO:equivalentTo", source="Orphanet:1816"} @@ -181080,10 +183787,11 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009523 name: Lichtenstein syndrome def: "Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." [Orphanet:2390] -subset: gard_rare {source="GARD:0003248"} +subset: gard_rare {source="GARD:3248"} subset: ordo_disease {source="Orphanet:2390"} synonym: "Lichtenstein syndrome" EXACT [OMIM:246550] synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248] +xref: GARD:3248 {source="Orphanet:2390"} xref: MESH:C535894 {source="MONDO:equivalentTo"} xref: OMIM:246550 {source="Orphanet:2390/e", source="MONDO:equivalentTo", source="Orphanet:2390"} xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"} @@ -181097,7 +183805,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3248/lichten id: MONDO:0009524 name: intellectual disability-spasticity-ectrodactyly syndrome def: "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." [Orphanet:1891] -subset: gard_rare +subset: gard_rare {source="GARD:3523"} subset: ordo_malformation_syndrome {source="Orphanet:1891"} synonym: "ectrodactyly, spastic paraplegia and intellectual disability" RELATED [GARD:0003523, MESH:C537446] synonym: "ectrodactyly, spastic paraplegia and mental retardation" RELATED DEPRECATED [GARD:0003523, MESH:C537446] @@ -181108,6 +183816,7 @@ synonym: "limb defects, distal transverse, with intellectual disability and spas synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED DEPRECATED [OMIM:246555] synonym: "mental retardation spasticity ectrodactyly" RELATED DEPRECATED [GARD:0003523] synonym: "mental retardation, spasticity and transverse limb defects" RELATED DEPRECATED [GARD:0003523, MESH:C537446] +xref: GARD:3523 {source="Orphanet:1891"} xref: MESH:C537446 {source="MONDO:equivalentTo"} xref: OMIM:246555 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"} xref: Orphanet:1891 {source="MONDO:equivalentTo", source="OMIM:246555"} @@ -181126,7 +183835,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3523/mental- id: MONDO:0009525 name: split hand-foot malformation 3 def: "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." [Orphanet:1307] -subset: gard_rare +subset: gard_rare {source="GARD:3252", source="GARD:15193"} subset: ordo_malformation_syndrome {source="Orphanet:1307"} synonym: "10q24 microduplication syndrome" EXACT [Orphanet:1307] synonym: "Buttiens Fryns syndrome" RELATED [GARD:0003252] @@ -181145,6 +183854,8 @@ synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical, OMIM:246560] synonym: "split-hand/foot malformation 3, gene duplication syndrome" EXACT [OMIM:246560, OMIM:genemap2] synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, OMIM:246560] xref: DOID:0090025 {source="MONDO:equivalentTo"} +xref: GARD:15193 {source="OMIM:246560"} +xref: GARD:3252 {source="Orphanet:1307"} xref: ICD10CM:Q71.6 {source="DOID:0090025"} xref: MESH:C565437 {source="MONDO:equivalentTo"} xref: NCIT:C75121 {source="MONDO:equivalentTo"} @@ -181189,7 +183900,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009527 name: lipase deficiency, combined def: "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." [NCIT:C126558] -subset: gard_rare {source="GARD:0010244"} +subset: gard_rare {source="GARD:10244"} subset: ordo_etiological_subtype synonym: "combined lipase deficiency" EXACT [NCIT:C126558] synonym: "lipase deficiency combined" RELATED [GARD:0010244] @@ -181198,6 +183909,7 @@ synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficie synonym: "LPL and HL deficiency" RELATED [OMIM:246650] synonym: "LPL and HTGL deficiency" RELATED [OMIM:246650] xref: DOID:0111422 {source="MONDO:equivalentTo"} +xref: GARD:10244 {source="Orphanet:535453"} xref: MESH:C535904 {source="MONDO:equivalentTo"} xref: NCIT:C126558 {source="MONDO:equivalentTo"} xref: OMIM:246650 {source="MONDO:equivalentTo", source="Orphanet:535453"} @@ -181213,7 +183925,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10244/lipase id: MONDO:0009528 name: chylomicron retention disease def: "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." [Orphanet:71] -subset: gard_rare {source="GARD:0009683"} +subset: gard_rare {source="GARD:9683"} subset: ordo_disease {source="Orphanet:71"} synonym: "Anderson disease" EXACT [DOID:0060357, OMIM:246700, Orphanet:71] synonym: "chylomicron retention disease" EXACT [MONDO:Lexical, OMIM:246700] @@ -181223,6 +183935,7 @@ synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Pro synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" RELATED [GARD:0009683] synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700] xref: DOID:0060357 {source="MONDO:equivalentTo"} +xref: GARD:9683 {source="Orphanet:71"} xref: ICD10CM:E78.3 {source="DOID:0060357"} xref: ICD10CM:E78.6 {source="Orphanet:71/attributed", source="Orphanet:71/ntbt", source="Orphanet:71"} xref: MESH:C535460 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} @@ -181243,6 +183956,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9683/chylomi id: MONDO:0009529 name: pyruvate dehydrogenase E3 deficiency def: "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." [Orphanet:2394] +subset: gard_rare {source="GARD:3263"} subset: ordo_clinical_subtype {source="Orphanet:2394"} synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:246900, Orphanet:2394] synonym: "DLD deficiency" EXACT [Orphanet:2394] @@ -181254,6 +183968,7 @@ synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [O synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900] synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263] synonym: "pyruvate dehydrogenase E3 deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:3263 {source="Orphanet:2394"} xref: ICD10CM:E74.4 {source="Orphanet:2394/attributed", source="Orphanet:2394/ntbt", source="Orphanet:2394"} xref: OMIM:246900 {source="Orphanet:2394/e", source="MONDO:equivalentTo", source="Orphanet:2394"} xref: Orphanet:2394 {source="MONDO:equivalentTo", source="OMIM:246900"} @@ -181272,6 +183987,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0009530 name: lipoid proteinosis def: "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." [Orphanet:530] +subset: gard_rare {source="GARD:3268"} subset: ordo_malformation_syndrome {source="Orphanet:530"} synonym: "hyalinosis cutis Et mucosae" RELATED [OMIM:247100] synonym: "hyalinosis cutis et mucosae" EXACT [Orphanet:530] @@ -181282,6 +183998,7 @@ synonym: "lipoproteinosis" EXACT [NCIT:C84829] synonym: "Urbach Wiethe disease" RELATED [GARD:0003268] synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530] xref: DOID:14498 {source="MONDO:equivalentTo"} +xref: GARD:3268 {source="Orphanet:530"} xref: ICD10CM:E78.8 {source="Orphanet:530/index", source="Orphanet:530/ntbt", source="Orphanet:530"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498"} @@ -181310,6 +184027,7 @@ is_obsolete: true id: MONDO:0009532 name: Miller-Dieker lissencephaly syndrome def: "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." [NCIT:C124852] +subset: gard_rare {source="GARD:3669"} subset: ordo_malformation_syndrome {source="Orphanet:531"} synonym: "chromosome 17P13.3 deletion syndrome" RELATED [OMIM:247200] synonym: "lissencephaly due to 17p13.3 deletion" EXACT [Orphanet:531] @@ -181322,6 +184040,7 @@ synonym: "monosomy 17p13.3" EXACT [Orphanet:531] synonym: "telomeric deletion 17p" EXACT [Orphanet:531] xref: DECIPHER:21 {source="MONDO:equivalentTo"} xref: DOID:0060469 {source="MONDO:equivalentTo"} +xref: GARD:3669 {source="Orphanet:531"} xref: ICD10CM:Q04.3 {source="Orphanet:531/ntbt", source="DOID:0060469", source="Orphanet:531/inclusion", source="Orphanet:531"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068361 {source="Orphanet:531/e", source="Orphanet:531"} @@ -181342,7 +184061,7 @@ relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted id: MONDO:0009533 name: Dahlberg-Borer-Newcomer syndrome def: "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." [Orphanet:1563] -subset: gard_rare {source="GARD:0000237"} +subset: gard_rare {source="GARD:237"} subset: ordo_malformation_syndrome {source="Orphanet:1563"} synonym: "Dahlberg Borer Newcomer syndrome" RELATED [GARD:0000237] synonym: "Dahlberg syndrome" EXACT [Orphanet:1563] @@ -181350,6 +184069,7 @@ synonym: "hypoparathyroidism lymphedema syndrome" RELATED [GARD:0000237] synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410] synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237] synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563] +xref: GARD:237 {source="Orphanet:1563"} xref: ICD10CM:Q87.8 {source="Orphanet:1563", source="Orphanet:1563/e", source="Orphanet:1563/specific"} xref: MESH:C535769 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: OMIM:247410 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} @@ -181399,6 +184119,7 @@ is_a: MONDO:0015279 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic m id: MONDO:0009537 name: lymphoid interstitial pneumonia def: "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." [NCIT:C27558] +subset: gard_rare {source="GARD:16700"} subset: ordo_disease {source="Orphanet:79128"} synonym: "diffuse hyperplasia of bronchus-associated lymphoid tissue" EXACT [NCIT:C27558] synonym: "LIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247610] @@ -181407,6 +184128,7 @@ synonym: "lymphocytic interstitial pneumonia" EXACT [Orphanet:79128] synonym: "lymphocytic interstitial pneumonitis" EXACT [NCIT:C27558] synonym: "lymphoid interstitial pneumonia" EXACT [MONDO:Lexical, OMIM:247610] xref: DOID:0050159 {source="MONDO:equivalentTo"} +xref: GARD:16700 {source="Orphanet:79128"} xref: ICD10CM:J84.1 {source="Orphanet:79128", source="Orphanet:79128/ntbt"} xref: ICD10CM:J84.2 {source="MONDO:equivalentTo"} xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -181447,7 +184169,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009540 name: chronic mucocutaneous candidiasis due to lymphokine deficiency +subset: gard_rare {source="GARD:15194"} synonym: "lymphokine deficiency" EXACT [OMIM:247650] +xref: GARD:15194 {source="OMIM:247650"} xref: MESH:C565428 {source="MONDO:equivalentTo"} xref: OMIM:247650 {source="MONDO:equivalentTo"} xref: UMLS:C1855471 {source="OMIM:247650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -181477,11 +184201,12 @@ is_a: MONDO:0020598 {source="https://orcid.org/0000-0001-5208-3432"} ! malabsorp id: MONDO:0009543 name: prominent glabella-microcephaly-hypogenitalism syndrome def: "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." [Orphanet:2083] -subset: gard_rare +subset: gard_rare {source="GARD:144"} subset: ordo_malformation_syndrome {source="Orphanet:2083"} synonym: "Mac Dermot Winter syndrome" RELATED [GARD:0000144] synonym: "MacDermot-Winter syndrome" EXACT [GARD:0000144, OMIM:247990, Orphanet:2083] synonym: "prominent glabella microcephaly hypogenitalism" RELATED [GARD:0000144] +xref: GARD:144 {source="Orphanet:2083"} xref: ICD10CM:Q87.8 {source="Orphanet:2083", source="Orphanet:2083/attributed", source="Orphanet:2083/ntbt"} xref: MESH:C537714 {source="MONDO:equivalentTo"} xref: OMIM:247990 {source="Orphanet:2083/e", source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083"} @@ -181496,7 +184221,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/144/mac-derm [Term] id: MONDO:0009544 name: macrocephaly/megalencephaly syndrome, autosomal recessive -subset: gard_rare synonym: "Fryns Dereymaeker Haegeman syndrome" RELATED [GARD:0000148] synonym: "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism" RELATED [GARD:0000148] synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive" EXACT [MONDO:Lexical, OMIM:248000] @@ -181514,7 +184238,6 @@ property_value: confidence "39.000000000000085" xsd:double [Term] id: MONDO:0009545 name: macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance -subset: gard_rare {source="GARD:0000173"} synonym: "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" EXACT [OMIM:248010] synonym: "Macroepiphyseal dysplasia, McAlister coe type" RELATED [GARD:0000173] synonym: "McAlister coe Whyte syndrome" RELATED [GARD:0000173] @@ -181538,13 +184261,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009547 name: macrosomia-microphthalmia-cleft palate syndrome def: "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." [Orphanet:2432] -subset: gard_rare +subset: gard_rare {source="GARD:177"} subset: ordo_malformation_syndrome {source="Orphanet:2432"} synonym: "macrosomia microphthalmia cleft palate" RELATED [GARD:0000177] synonym: "macrosomia with lethal microphthalmia" RELATED [GARD:0000177] synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110] synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177] synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432] +xref: GARD:177 {source="Orphanet:2432"} xref: ICD10CM:Q87.0 {source="Orphanet:2432", source="Orphanet:2432/attributed", source="Orphanet:2432/ntbt"} xref: MESH:C537830 {source="MONDO:equivalentTo"} xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="MONDO:equivalentTo", source="Orphanet:2432/e"} @@ -181557,7 +184281,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009548 name: renal hypomagnesemia 5 with ocular involvement def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." [Orphanet:2196] -subset: gard_rare +subset: gard_rare {source="GARD:3451"} subset: ordo_disease {source="Orphanet:2196"} synonym: "bilateral macular coloboma with hypercalciuria" EXACT [DOID:0060881] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [DOID:0060881] @@ -181574,6 +184298,7 @@ synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [OMIM:248190 synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196] xref: DOID:0060881 {source="MONDO:equivalentTo"} +xref: GARD:3451 {source="Orphanet:2196"} xref: ICD10CM:E83.4 {source="DOID:0060881", source="Orphanet:2196/attributed", source="Orphanet:2196/ntbt", source="Orphanet:2196"} xref: MESH:C536148 {source="MONDO:equivalentTo"} xref: OMIM:248190 {source="DOID:0060881", source="Orphanet:2196/e", source="MONDO:equivalentTo", source="GARD:0003451", source="Orphanet:2196"} @@ -181592,6 +184317,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3451/meier-b id: MONDO:0009549 name: severe early-childhood-onset retinal dystrophy def: "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." [Orphanet:364055] +subset: gard_rare {source="GARD:21565"} subset: ordo_disease {source="Orphanet:364055"} synonym: "early-onset severe retinal dystrophy" EXACT [Orphanet:364055] synonym: "EOSRD" EXACT ABBREVIATION [Orphanet:364055] @@ -181604,6 +184330,7 @@ synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200] synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200] synonym: "Stgd" RELATED [OMIM:248200] synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248200] +xref: GARD:21565 {source="Orphanet:364055"} xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="Orphanet:364055/attributed", source="Orphanet:364055/ntbt"} xref: OMIM:248200 {source="MONDO:equivalentTo"} xref: Orphanet:364055 {source="MONDO:equivalentTo"} @@ -181621,6 +184348,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009550 name: renal hypomagnesemia 3 def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." [Orphanet:31043] +subset: gard_rare {source="GARD:2906"} subset: ordo_disease {source="Orphanet:31043"} synonym: "CLDN16 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CLDN16 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -181641,6 +184369,7 @@ synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:desi synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880] synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043] xref: DOID:0060880 {source="MONDO:equivalentTo"} +xref: GARD:2906 {source="Orphanet:31043"} xref: ICD10CM:E83.4 {source="DOID:0060880", source="Orphanet:31043/attributed", source="Orphanet:31043/ntbt", source="Orphanet:31043"} xref: MESH:C537153 {source="MONDO:equivalentTo"} xref: OMIM:248250 {source="DOID:0060880", source="Orphanet:31043/e", source="MONDO:equivalentTo", source="Orphanet:31043"} @@ -181669,7 +184398,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009552 name: mal de Meleda def: "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." [Orphanet:87503] -subset: gard_rare +subset: gard_rare {source="GARD:92"} subset: ordo_disease {source="Orphanet:87503"} synonym: "keratosis palmoplantaris transgradiens of Siemens" RELATED [GARD:0000092] synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] @@ -181679,6 +184408,7 @@ synonym: "MDM" RELATED ABBREVIATION [GARD:0000092, MONDO:Lexical, OMIM:248300] synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503] xref: DOID:0060862 {source="MONDO:equivalentTo"} +xref: GARD:92 {source="Orphanet:87503"} xref: ICD10CM:Q82.8 {source="Orphanet:87503/attributed", source="Orphanet:87503/ntbt", source="DOID:0060862", source="Orphanet:87503"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:248300 {source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="Orphanet:87503/e", source="GARD:0000092"} @@ -181712,6 +184442,7 @@ is_obsolete: true id: MONDO:0009554 name: 3MC syndrome 3 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:8531"} synonym: "3MC syndrome 3" EXACT [MONDO:Lexical, OMIM:248340] synonym: "3MC syndrome caused by mutation in COLEC10" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 3" EXACT [DOID:0060577, MONDORULE:1] @@ -181722,6 +184453,7 @@ synonym: "facial clefting syndrome, Gypsy type" RELATED [OMIM:248340] synonym: "Malpuech Facial clefting syndrome" RELATED [OMIM:248340] synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [OMIM:248340] xref: DOID:0060577 {source="MONDO:equivalentTo"} +xref: GARD:8531 {source="OMIM:248340"} xref: MESH:C535704 {source="MONDO:equivalentTo"} xref: OMIM:248340 {source="MONDO:equivalentTo", source="DOID:0060577"} xref: Orphanet:2453 {source="OMIM:248340", source="MONDO:equivalentObsolete"} @@ -181746,12 +184478,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009556 name: malonic aciduria def: "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." [Orphanet:943] +subset: gard_rare {source="GARD:3371"} subset: ordo_disease {source="Orphanet:943"} synonym: "malonic acidemia" RELATED [GARD:0003371] synonym: "malonic aciduria" EXACT CLINGEN_PREFERRED [] synonym: "Malonicaciduria" RELATED [GARD:0003371] synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943] synonym: "MCD deficiency" RELATED [GARD:0003371] +xref: GARD:3371 {source="Orphanet:943"} xref: ICD10CM:E72.8 {source="Orphanet:943/attributed", source="Orphanet:943/ntbt", source="Orphanet:943"} xref: MESH:C535702 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: OMIM:248360 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} @@ -181768,7 +184502,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009557 name: mandibuloacral dysplasia with type A lipodystrophy def: "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." [NCIT:C123417] -subset: gard_rare {source="GARD:0003374"} +subset: gard_rare {source="GARD:3374"} subset: ordo_clinical_subtype {source="Orphanet:90153"} synonym: "craniomandibular Dermatodysostosis" RELATED [OMIM:248370] synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [OMIM:248370] @@ -181778,6 +184512,7 @@ synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [OMIM:2483 synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370] synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370] xref: DOID:0081128 {source="MONDO:equivalentTo"} +xref: GARD:3374 {source="Orphanet:90153"} xref: ICD10CM:Q87.5 {source="Orphanet:90153/attributed", source="Orphanet:90153/ntbt", source="Orphanet:90153"} xref: MESH:C535705 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: NCIT:C123417 {source="MONDO:equivalentTo"} @@ -181801,7 +184536,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3374/mandibu id: MONDO:0009558 name: Treacher Collins syndrome 3 def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009125"} +subset: gard_rare {source="GARD:9125"} synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [OMIM:248390] synonym: "POLR1C Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TCS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248390] @@ -181810,6 +184545,7 @@ synonym: "Treacher Collins syndrome 3" EXACT [MONDO:Lexical, OMIM:248390] synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1, OMIM:248390] synonym: "Treacher-Collins syndrome caused by mutation in POLR1C" EXACT [MONDO:design_pattern] xref: DOID:0080791 {source="MONDO:equivalentTo"} +xref: GARD:9125 {source="OMIM:248390"} xref: MESH:C535707 {source="MONDO:equivalentTo"} xref: OMIM:248390 {source="MONDO:equivalentTo"} xref: Orphanet:861 {source="OMIM:248390"} @@ -181836,6 +184572,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009560 name: oculotrichoanal syndrome +subset: gard_rare {source="GARD:3395"} subset: ordo_malformation_syndrome {source="Orphanet:2717"} synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical, OMIM:248450] synonym: "Manitoba oculotrichoanal syndrome" EXACT [Orphanet:2717] @@ -181845,6 +184582,7 @@ synonym: "Marles-Greenberg-Persaud syndrome" EXACT [Orphanet:2717] synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248450] synonym: "MOTA syndrome" EXACT [Orphanet:2717] synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395] +xref: GARD:3395 {source="Orphanet:2717"} xref: ICD10CM:Q87.8 {source="Orphanet:2717/attributed", source="Orphanet:2717/ntbt", source="Orphanet:2717"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536022 {source="MONDO:equivalentTo"} @@ -181862,7 +184600,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009561 name: alpha-mannosidosis def: "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." [Orphanet:61] -subset: gard_rare {source="GARD:0006968"} +subset: gard_rare {source="GARD:6968"} subset: ordo_disease {source="Orphanet:61"} synonym: "Alpha mannosidase B deficiency" RELATED [GARD:0006968] synonym: "Alpha-D-mannosidosis" EXACT [DOID:3413] @@ -181877,6 +184615,7 @@ synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical, OMIM:248500] synonym: "mannosidosis, alpha-, types I and II" EXACT [OMIM:248500, OMIM:genemap2] synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500] xref: DOID:3413 {source="MONDO:equivalentTo"} +xref: GARD:6968 {source="Orphanet:61"} xref: ICD10CM:E77.1 {source="Orphanet:61/ntbt", source="Orphanet:61/inclusion", source="Orphanet:61"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008363 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} @@ -181904,6 +184643,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6968/alpha-m id: MONDO:0009562 name: beta-mannosidosis def: "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." [Orphanet:118] +subset: gard_rare {source="GARD:869"} subset: ordo_disease {source="Orphanet:118"} synonym: "Beta-D-mannosidosis" EXACT [DOID:3633] synonym: "Beta-mannosidase deficiency" EXACT [OMIM:248510, Orphanet:118] @@ -181915,6 +184655,7 @@ synonym: "mannosidosis, beta" EXACT [OMIM:248510, OMIM:genemap2] synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510] synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510] xref: DOID:3633 {source="MONDO:equivalentTo"} +xref: GARD:869 {source="Orphanet:118"} xref: ICD10CM:E77.1 {source="Orphanet:118/inclusion", source="Orphanet:118/ntbt", source="Orphanet:118"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D044905 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} @@ -181941,6 +184682,7 @@ id: MONDO:0009563 name: maple syrup urine disease def: "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." [NCIT:P378] comment: Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct +subset: gard_rare {source="GARD:3228"} subset: ordo_disease {source="Orphanet:511"} subset: prototype_pattern synonym: "BCKD deficiency" EXACT [Orphanet:511] @@ -181965,6 +184707,7 @@ synonym: "maple syrup urine disease, type IB" EXACT [OMIM:248600, OMIM:genemap2] synonym: "maple syrup urine disease, type II" EXACT [OMIM:248600, OMIM:genemap2] synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:248600, Orphanet:511] xref: DOID:9269 {source="MONDO:equivalentTo"} +xref: GARD:3228 {source="Orphanet:511"} xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269", source="Orphanet:511/specific"} xref: MedDRA:10026817 {source="Orphanet:511", source="Orphanet:511/e"} xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"} @@ -182000,12 +184743,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009564 name: Marden-Walker syndrome def: "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." [Orphanet:2461] +subset: gard_rare {source="GARD:6973"} subset: ordo_malformation_syndrome {source="Orphanet:2461"} synonym: "connective tissue disorder Marden Walker type" RELATED [GARD:0006973] synonym: "MARDEN-WALKER syndrome" RELATED [OMIM:248700] synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700] synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700] synonym: "Mws" RELATED [OMIM:248700] +xref: GARD:6973 {source="Orphanet:2461"} xref: ICD10CM:Q87.0 {source="Orphanet:2461/attributed", source="Orphanet:2461/ntbt", source="Orphanet:2461"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535910 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} @@ -182027,10 +184772,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009565 name: microcephaly-glomerulonephritis-marfanoid habitus syndrome def: "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." [Orphanet:2172] -subset: gard_rare +subset: gard_rare {source="GARD:3615"} subset: ordo_malformation_syndrome {source="Orphanet:2172"} synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760] synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615] +xref: GARD:3615 {source="Orphanet:2172"} xref: ICD10CM:Q87.8 {source="Orphanet:2172/attributed", source="Orphanet:2172/ntbt", source="Orphanet:2172"} xref: MESH:C565411 {source="MONDO:equivalentTo"} xref: OMIM:248760 {source="Orphanet:2172/e", source="MONDO:equivalentTo", source="Orphanet:2172"} @@ -182047,11 +184793,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3615/microce id: MONDO:0009566 name: marfanoid habitus-autosomal recessive intellectual disability syndrome def: "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." [Orphanet:2463] +subset: gard_rare {source="GARD:3388"} subset: ordo_malformation_syndrome {source="Orphanet:2463"} synonym: "Marfanoid intellectual disability syndrome autosomal" RELATED [GARD:0003388] synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [OMIM:248770] synonym: "Marfanoid mental retardation syndrome autosomal" RELATED DEPRECATED [GARD:0003388] synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [OMIM:248770] +xref: GARD:3388 {source="Orphanet:2463"} xref: ICD10CM:Q87.8 {source="Orphanet:2463", source="Orphanet:2463/attributed", source="Orphanet:2463/ntbt"} xref: MESH:C565410 {source="MONDO:equivalentTo"} xref: OMIM:248770 {source="Orphanet:2463", source="MONDO:equivalentTo", source="Orphanet:2463/e"} @@ -182068,6 +184816,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009567 name: Marinesco-Sjogren syndrome def: "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." [Orphanet:559] +subset: gard_rare {source="GARD:8341"} subset: ordo_disease {source="Orphanet:559"} synonym: "Garland-Moorhouse syndrome" EXACT [DOID:0080195] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [DOID:0080195] @@ -182080,6 +184829,7 @@ synonym: "Marinesco-Sjögren syndrome" RELATED [Orphanet:559] synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:248800] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195] xref: DOID:0080195 {source="MONDO:equivalentTo"} +xref: GARD:8341 {source="Orphanet:559"} xref: ICD10CM:G11.1 {source="Orphanet:559/attributed", source="Orphanet:559/ntbt", source="Orphanet:559"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:248800 {source="DOID:0080195", source="Orphanet:559", source="MONDO:equivalentTo", source="Orphanet:559/e"} @@ -182100,6 +184850,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009568 name: mast syndrome def: "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." [Orphanet:101001] +subset: gard_rare {source="GARD:16939"} subset: ordo_disease {source="Orphanet:101001"} synonym: "autosomal recessive spastic paraplegia 21" EXACT [DOID:0060245] synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245] @@ -182109,6 +184860,7 @@ synonym: "mast syndrome" EXACT CLINGEN_PREFERRED [OMIM:248900] synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900] synonym: "SPG21" EXACT ABBREVIATION [DOID:0060245, Orphanet:101001] xref: DOID:0060245 {source="MONDO:equivalentTo"} +xref: GARD:16939 {source="Orphanet:101001"} xref: ICD10CM:G11.4 {source="Orphanet:101001", source="DOID:0060245", source="Orphanet:101001/attributed", source="Orphanet:101001/ntbt"} xref: MESH:C565409 {source="MONDO:equivalentTo"} xref: OMIM:248900 {source="Orphanet:101001", source="DOID:0060245", source="MONDO:equivalentTo", source="Orphanet:101001/e"} @@ -182123,7 +184875,7 @@ property_value: confidence "30.481481481481485" xsd:double id: MONDO:0009569 name: Hennekam-Beemer syndrome def: "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." [Orphanet:2135] -subset: gard_rare +subset: gard_rare {source="GARD:3409"} subset: ordo_malformation_syndrome {source="Orphanet:2135"} synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [OMIM:248910] synonym: "Hennekam Beemer syndrome" RELATED [GARD:0003409] @@ -182131,6 +184883,7 @@ synonym: "mastocytosis cutaneous with short stature conductive hearing loss and synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135] synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability" RELATED [GARD:0003409] synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" RELATED DEPRECATED [GARD:0003409] +xref: GARD:3409 {source="Orphanet:2135"} xref: ICD10CM:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="Orphanet:2135/attributed", source="Orphanet:2135/ntbt"} xref: MESH:C536033 {source="MONDO:equivalentTo"} xref: OMIM:248910 {source="Orphanet:2135", source="MONDO:equivalentTo", source="Orphanet:2135/e", source="GARD:0003409"} @@ -182149,11 +184902,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3409/mastocy id: MONDO:0009570 name: McDonough syndrome def: "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." [Orphanet:2471] -subset: gard_rare {source="GARD:0003424"} +subset: gard_rare {source="GARD:3424"} subset: ordo_malformation_syndrome {source="Orphanet:2471"} synonym: "intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED [GARD:0003424] synonym: "McDonough syndrome" EXACT [OMIM:248950] synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424] +xref: GARD:3424 {source="Orphanet:2471"} xref: ICD10CM:Q87.8 {source="Orphanet:2471/attributed", source="Orphanet:2471/ntbt", source="Orphanet:2471"} xref: MESH:C538158 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: OMIM:248950 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} @@ -182225,7 +184979,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009573 name: megaepiphyseal dwarfism -subset: gard_rare {source="GARD:0003444"} synonym: "megaepiphyseal dwarfism" EXACT [OMIM:249230] xref: MESH:C536140 {source="MONDO:equivalentTo"} xref: OMIM:249230 {source="MONDO:equivalentTo"} @@ -182247,7 +185000,7 @@ is_a: MONDO:0003847 {source="MESH:C565408/inferred"} ! hereditary disease id: MONDO:0009575 name: thiamine-responsive megaloblastic anemia syndrome def: "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." [Orphanet:49827] -subset: gard_rare {source="GARD:0009210"} +subset: gard_rare {source="GARD:9210"} subset: ordo_disease {source="Orphanet:49827"} synonym: "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED OMO:0003005 [] synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210] @@ -182269,6 +185022,7 @@ synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270] synonym: "THMD1" EXACT ABBREVIATION [DOID:0090117] synonym: "TRMA" EXACT ABBREVIATION [DOID:0090117, MONDO:Lexical, OMIM:249270, Orphanet:49827] xref: DOID:0090117 {source="MONDO:equivalentTo"} +xref: GARD:9210 {source="Orphanet:49827"} xref: ICD10CM:Q21.0 {source="Orphanet:49827", source="Orphanet:49827/index", source="DOID:0090117", source="Orphanet:49827/e"} xref: MESH:C536510 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} xref: OMIM:249270 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} @@ -182314,7 +185068,7 @@ property_value: IAO:0000589 "megalocornea (disease)" xsd:string id: MONDO:0009577 name: megalocornea-intellectual disability syndrome def: "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." [Orphanet:2479] -subset: gard_rare {source="GARD:0003448"} +subset: gard_rare {source="GARD:3448"} subset: ordo_malformation_syndrome {source="Orphanet:2479"} synonym: "megalocornea intellectual disability syndrome" RELATED [GARD:0003448] synonym: "megalocornea mental retardation syndrome" RELATED DEPRECATED [GARD:0003448] @@ -182324,6 +185078,7 @@ synonym: "MMR syndrome" EXACT [OMIM:249310, Orphanet:2479] synonym: "Neuhauser syndrome" RELATED [OMIM:249310] synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479] synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479] +xref: GARD:3448 {source="Orphanet:2479"} xref: ICD10CM:Q87.8 {source="Orphanet:2479", source="Orphanet:2479/attributed", source="Orphanet:2479/ntbt"} xref: MESH:C536143 {source="MONDO:equivalentTo"} xref: OMIM:249310 {source="MONDO:equivalentTo", source="Orphanet:2479", source="Orphanet:2479/e"} @@ -182341,6 +185096,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3448/megaloc id: MONDO:0009578 name: neurocutaneous melanocytosis def: "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." [Orphanet:2481] +subset: gard_rare {source="GARD:7186"} subset: ordo_disease {source="Orphanet:2481"} synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical, OMIM:249400] synonym: "NCM" EXACT ABBREVIATION [Orphanet:2481] @@ -182349,6 +185105,7 @@ synonym: "neurocutaneous melanosis" EXACT [Orphanet:2481] synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186] synonym: "neurocutaneous melanosis, somatic" EXACT [OMIM:249400, OMIM:genemap2] synonym: "Neuromelanosis" RELATED [OMIM:249400] +xref: GARD:7186 {source="Orphanet:2481"} xref: ICD10CM:D22.3 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.4 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.5 {source="Orphanet:2481/btnt", source="Orphanet:2481"} @@ -182369,7 +185126,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009579 name: Frank-Ter Haar syndrome def: "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." [https://orcid.org/0000-0001-5208-3432, Orphanet:137834] -subset: gard_rare +subset: gard_rare {source="GARD:5138"} subset: ordo_disease {source="Orphanet:137834"} synonym: "autosomal recessive Melnick-Needles syndrome (formerly)" RELATED [GARD:0005138] synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [OMIM:249420] @@ -182384,6 +185141,7 @@ synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [OMIM:249420] synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM:249420] synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834] xref: DOID:0111789 {source="MONDO:equivalentTo"} +xref: GARD:5138 {source="Orphanet:137834"} xref: ICD10CM:Q87.8 {source="Orphanet:137834", source="Orphanet:137834/attributed", source="Orphanet:137834/ntbt"} xref: MESH:C536577 {source="MONDO:equivalentTo"} xref: MESH:C537274 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -182410,6 +185168,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/939/borrone- id: MONDO:0009580 name: intellectual disability, autosomal recessive 1 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22537"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:249500] synonym: "intellectual disability, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500] @@ -182418,6 +185177,7 @@ synonym: "mental retardation, autosomal recessive type 1" EXACT DEPRECATED [MOND synonym: "MRT1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500] synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081177 {source="MONDO:equivalentTo"} +xref: GARD:22537 {source="OMIM:249500"} xref: MESH:C565406 {source="MONDO:equivalentTo"} xref: OMIM:249500 {source="MONDO:equivalentTo"} xref: UMLS:C1855304 {source="OMIM:249500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -182431,12 +185191,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0009581 name: intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome def: "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." [Orphanet:3044] -subset: gard_rare {source="GARD:0009811"} +subset: gard_rare {source="GARD:9811"} subset: ordo_malformation_syndrome {source="Orphanet:3044"} synonym: "Belgian type intellectual disability syndrome" RELATED [GARD:0009811] synonym: "Belgian type mental retardation syndrome" RELATED DEPRECATED [GARD:0009811] synonym: "intellectual disability syndrome, Belgian type" RELATED [OMIM:249599] synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [OMIM:249599] +xref: GARD:9811 {source="Orphanet:3044"} xref: ICD10CM:Q87.8 {source="Orphanet:3044/attributed", source="Orphanet:3044/ntbt", source="Orphanet:3044"} xref: MESH:C537447 {source="MONDO:equivalentTo"} xref: OMIM:249599 {source="Orphanet:3044/e", source="MONDO:equivalentTo", source="Orphanet:3044"} @@ -182454,6 +185215,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9811/intelle id: MONDO:0009582 name: Mietens syndrome def: "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." [Orphanet:2557] +subset: gard_rare {source="GARD:3524"} subset: ordo_malformation_syndrome {source="Orphanet:2557"} synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" RELATED [GARD:0003524] synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation" RELATED DEPRECATED [GARD:0003524] @@ -182463,6 +185225,7 @@ synonym: "intellectual disability, Mietens-Weber type" EXACT [Orphanet:2557] synonym: "mental retardation syndrome, Mietens Weber type" RELATED DEPRECATED [GARD:0003524] synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [OMIM:249600] synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600] +xref: GARD:3524 {source="Orphanet:2557"} xref: ICD10CM:Q87.8 {source="Orphanet:2557", source="Orphanet:2557/attributed", source="Orphanet:2557/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537444 {source="MONDO:equivalentTo"} @@ -182484,6 +185247,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009583 name: blepharophimosis - intellectual disability syndrome, Ohdo type def: "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [Orphanet:2728] +subset: gard_rare {source="GARD:3348"} subset: ordo_malformation_syndrome {source="Orphanet:2728"} synonym: "blepharophimosis syndrome, Ohdo type" EXACT [Orphanet:2728] synonym: "BMRS, Ohdo type" EXACT [Orphanet:2728] @@ -182492,6 +185256,7 @@ synonym: "mental retardation, congenital heart disease, blepharophimosis, blepha synonym: "Ohdo blepharophimosis syndrome" RELATED [OMIM:249620] synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728] synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728] +xref: GARD:3348 {source="Orphanet:2728"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:525.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:249620 {source="Orphanet:2728/e", source="MONDO:equivalentTo", source="Orphanet:2728"} @@ -182505,7 +185270,7 @@ is_a: MONDO:0000734 {source="DC-OMIM:249620"} ! Ohdo syndrome and variants id: MONDO:0009584 name: intellectual disability, Buenos-Aires type def: "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." [Orphanet:3079] -subset: gard_rare +subset: gard_rare {source="GARD:3485"} subset: ordo_malformation_syndrome {source="Orphanet:3079"} synonym: "intellectual deficit Buenos-Aires type" RELATED [GARD:0003485] synonym: "intellectual disability Buenos Aires type" RELATED [GARD:0003485] @@ -182513,6 +185278,7 @@ synonym: "intellectual disability, Buenos Aires type" RELATED [OMIM:249630] synonym: "mental retardation Buenos Aires type" RELATED DEPRECATED [GARD:0003485] synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [OMIM:249630] synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079] +xref: GARD:3485 {source="Orphanet:3079"} xref: ICD10CM:Q87.8 {source="Orphanet:3079", source="Orphanet:3079/attributed", source="Orphanet:3079/ntbt"} xref: MESH:C563095 {source="MONDO:equivalentTo"} xref: OMIM:249630 {source="Orphanet:3079", source="MONDO:equivalentTo", source="Orphanet:3079/e", source="GARD:0003485"} @@ -182528,7 +185294,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3485/intelle [Term] id: MONDO:0009585 name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria -subset: gard_rare +subset: gard_rare {source="GARD:654"} subset: ordo_disease {source="Orphanet:1035"} synonym: "3-mercaptopyruvate sulfurtransferase deficiency" EXACT [Orphanet:1035] synonym: "Ampola syndrome" EXACT [Orphanet:1035] @@ -182536,6 +185302,7 @@ synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654, Orp synonym: "disulfiduria, mixed" RELATED [OMIM:249650] synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249650] synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650] +xref: GARD:654 {source="Orphanet:1035"} xref: ICD10CM:E72.1 {source="Orphanet:1035", source="Orphanet:1035/attributed", source="Orphanet:1035/ntbt"} xref: MESH:C563085 {source="MONDO:equivalentTo"} xref: OMIM:249650 {source="Orphanet:1035", source="MONDO:equivalentTo", source="Orphanet:1035/e"} @@ -182567,7 +185334,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009588 name: Langer mesomelic dysplasia def: "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." [Orphanet:2632] -subset: gard_rare {source="GARD:0003553"} +subset: gard_rare {source="GARD:3553"} subset: ordo_malformation_syndrome {source="Orphanet:2632"} synonym: "dyschondrosteosis, homozygous" RELATED [OMIM:249700] synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, OMIM:249700] @@ -182578,6 +185345,7 @@ synonym: "LMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249700] synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" RELATED [GARD:0003553] synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700] synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632] +xref: GARD:3553 {source="Orphanet:2632"} xref: ICD10CM:Q87.1 {source="Orphanet:2632/attributed", source="Orphanet:2632/ntbt", source="Orphanet:2632"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537267 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"} @@ -182600,13 +185368,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3553/langer- id: MONDO:0009589 name: mesomelic dwarfism-cleft palate-camptodactyly syndrome def: "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:2631] -subset: gard_rare +subset: gard_rare {source="GARD:3552"} subset: ordo_malformation_syndrome {source="Orphanet:2631"} synonym: "mesomelic dwarfism cleft palate camptodactyly" RELATED [GARD:0003552] synonym: "mesomelic dysplasia, Kozlowski-Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710] synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631] +xref: GARD:3552 {source="Orphanet:2631"} xref: ICD10CM:Q78.8 {source="Orphanet:2631/attributed", source="Orphanet:2631/ntbt", source="Orphanet:2631"} xref: MESH:C565404 {source="MONDO:equivalentTo"} xref: OMIM:249710 {source="GARD:0003552", source="Orphanet:2631", source="MONDO:equivalentTo", source="Orphanet:2631/e"} @@ -182627,7 +185396,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3552/mesomel [Term] id: MONDO:0009590 name: metachromatic leukodystrophy due to saposin B deficiency -subset: gard_rare {source="GARD:0010674"} synonym: "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" RELATED [OMIM:249900] synonym: "metachromatic leukodystrophy due to sap-B deficiency" EXACT [OMIM:249900, OMIM:genemap2] synonym: "metachromatic leukodystrophy due to saposin b deficiency" EXACT [OMIM:249900] @@ -182649,7 +185417,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10674/metach id: MONDO:0009591 name: metachromatic leukodystrophy, juvenile form def: "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." [GARD:0003230] -subset: gard_rare +subset: gard_rare {source="GARD:21329"} subset: ordo_clinical_subtype {source="Orphanet:309263"} synonym: "ARSA deficiency" RELATED [GARD:0003230, OMIM:250100] synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230, OMIM:250100] @@ -182669,6 +185437,7 @@ synonym: "Mld" RELATED [OMIM:250100] synonym: "MLD, juvenile form" EXACT [Orphanet:309263] synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100] synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100] +xref: GARD:21329 {source="Orphanet:309263"} xref: ICD10CM:E75.2 {source="Orphanet:309263/attributed", source="Orphanet:309263/ntbt", source="Orphanet:309263"} xref: OMIM:250100 {source="MONDO:equivalentTo", source="GARD:0003230"} xref: Orphanet:309263 {source="MONDO:equivalentTo"} @@ -182688,7 +185457,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0009592 name: metaphyseal acroscyphodysplasia def: "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." [Orphanet:1240] -subset: gard_rare {source="GARD:0003519"} +subset: gard_rare {source="GARD:3519"} subset: ordo_disease {source="Orphanet:1240"} synonym: "Bellini Chiumello Rimoldi syndrome" RELATED [GARD:0003519] synonym: "Bellini syndrome" EXACT [Orphanet:1240] @@ -182699,6 +185468,7 @@ synonym: "wedge-Shaped epiphyses of knees" RELATED [OMIM:250215] synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with intellectual disability and short stature" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519] +xref: GARD:3519 {source="Orphanet:1240"} xref: ICD10CM:Q78.5 {source="Orphanet:1240/attributed", source="Orphanet:1240/ntbt", source="Orphanet:1240"} xref: MESH:C537350 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: OMIM:250215 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} @@ -182715,7 +185485,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3519/metaphy id: MONDO:0009593 name: spondylometaphyseal dysplasia, Sedaghatian type def: "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." [Orphanet:93317] -subset: gard_rare {source="GARD:0004993"} +subset: gard_rare {source="GARD:4993"} subset: ordo_malformation_syndrome {source="Orphanet:93317"} synonym: "lethal metaphyseal dysplasia" RELATED [GARD:0004993] synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [OMIM:250220] @@ -182724,6 +185494,7 @@ synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250220] synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993] synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:250220] xref: DOID:0112298 {source="MONDO:equivalentTo"} +xref: GARD:4993 {source="Orphanet:93317"} xref: ICD10CM:Q77.8 {source="Orphanet:93317", source="Orphanet:93317/attributed", source="Orphanet:93317/ntbt"} xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} @@ -182745,8 +185516,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4993/spondyl id: MONDO:0009594 name: metaphyseal chondrodysplasia, Kaitila type def: "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." [Orphanet:166038] +subset: gard_rare {source="GARD:17018"} subset: ordo_disease {source="Orphanet:166038"} synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230] +xref: GARD:17018 {source="Orphanet:166038"} xref: MESH:C565400 {source="MONDO:equivalentTo"} xref: OMIM:250230 {source="MONDO:equivalentTo", source="Orphanet:166038", source="Orphanet:166038/e"} xref: Orphanet:166038 {source="MONDO:equivalentTo", source="OMIM:250230"} @@ -182763,7 +185536,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009595 name: cartilage-hair hypoplasia def: "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." [Orphanet:175] -subset: gard_rare {source="GARD:0006996"} +subset: gard_rare {source="GARD:6996"} subset: ordo_disease {source="Orphanet:175"} synonym: "autosomal recessive metaphyseal chondrodysplasia" EXACT [Orphanet:175] synonym: "cartilage hair hypoplasia" EXACT [NCIT:C61245] @@ -182775,6 +185548,7 @@ synonym: "metaphyseal chondrodysplasia McKusick type" RELATED [GARD:0006996] synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphanet:175] synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250] xref: DOID:14773 {source="MONDO:equivalentTo"} +xref: GARD:6996 {source="Orphanet:175"} xref: ICD10CM:Q78.8 {source="Orphanet:175", source="Orphanet:175/attributed", source="Orphanet:175/ntbt"} xref: MedDRA:10069596 {source="Orphanet:175/e", source="Orphanet:175"} xref: MESH:C535916 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} @@ -182809,12 +185583,14 @@ relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250300"} ! meta [Term] id: MONDO:0009597 name: metaphyseal chondrodysplasia, Spahr type +subset: gard_rare {source="GARD:3563"} subset: ordo_disease {source="Orphanet:2501"} synonym: "MDST" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250400] synonym: "metaphyseal chondrodysplasia Spahr type" RELATED [GARD:0003563] synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400] synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400] synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563] +xref: GARD:3563 {source="Orphanet:2501"} xref: ICD10CM:Q78.5 {source="Orphanet:2501", source="Orphanet:2501/attributed", source="Orphanet:2501/ntbt"} xref: MESH:C537353 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: OMIM:250400 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} @@ -182834,11 +185610,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009598 name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +subset: gard_rare {source="GARD:17017"} subset: ordo_disease {source="Orphanet:166035"} synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [Orphanet:166035] synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM:250410] synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410] synonym: "RPSKA" RELATED ABBREVIATION [OMIM:250410] +xref: GARD:17017 {source="Orphanet:166035"} xref: MESH:C565398 {source="MONDO:equivalentTo"} xref: OMIM:250410 {source="Orphanet:166035", source="MONDO:equivalentTo", source="Orphanet:166035/e"} xref: Orphanet:166035 {source="MONDO:equivalentTo", source="OMIM:250410"} @@ -182856,7 +185634,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009599 name: metaphyseal dysostosis-intellectual disability-conductive deafness syndrome def: "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." [Orphanet:2502] -subset: gard_rare +subset: gard_rare {source="GARD:3566"} subset: ordo_malformation_syndrome {source="Orphanet:2502"} synonym: "metaphyseal dysostosis intellectual disability conductive deafness" RELATED [GARD:0003566] synonym: "metaphyseal dysostosis mental retardation conductive deafness" RELATED DEPRECATED [GARD:0003566] @@ -182864,6 +185642,7 @@ synonym: "metaphyseal dysostosis, conductive hearing loss and intellectual disab synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation" RELATED DEPRECATED [GARD:0003566] synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [OMIM:250420] synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [OMIM:250420] +xref: GARD:3566 {source="Orphanet:2502"} xref: ICD10CM:Q78.5 {source="Orphanet:2502", source="Orphanet:2502/attributed", source="Orphanet:2502/ntbt"} xref: MESH:C565396 {source="MONDO:equivalentTo"} xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="Orphanet:2502/e"} @@ -182892,7 +185671,6 @@ is_a: MONDO:0003847 {source="MESH:C565395/inferred"} ! hereditary disease [Term] id: MONDO:0009601 name: metaphyseal dysplasia without hypotrichosis -subset: gard_rare {source="GARD:0010622"} synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [OMIM:250460] synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [OMIM:250460] synonym: "CHHV" RELATED ABBREVIATION [GARD:0010622] @@ -182911,7 +185689,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10622/metaph [Term] id: MONDO:0009602 name: metaphyseal modeling abnormality, skin lesions, and spastic paraplegia -subset: gard_rare synonym: "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" EXACT [GARD:0000217, OMIM:250500] synonym: "Roy Maroteaux Kremp syndrome" RELATED [GARD:0000217] xref: MESH:C535875 {source="MONDO:equivalentTo"} @@ -182923,6 +185700,7 @@ is_a: MONDO:0003847 {source="MESH:C535875/inferred"} ! hereditary disease id: MONDO:0009603 name: 3-hydroxyisobutyryl-CoA hydrolase deficiency def: "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." [Orphanet:88639] +subset: gard_rare {source="GARD:13202"} subset: ordo_disease {source="Orphanet:88639"} synonym: "3-hydroxyisobutryl-CoA hydrolase deficiency" EXACT [OMIM:250620, OMIM:genemap2] synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:250620] @@ -182934,6 +185712,7 @@ synonym: "methacrylic acid toxicity" RELATED [OMIM:250620] synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639] synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639] +xref: GARD:13202 {source="Orphanet:88639"} xref: ICD10CM:E71.1 {source="Orphanet:88639", source="Orphanet:88639/attributed", source="Orphanet:88639/ntbt"} xref: MESH:C562803 {source="MONDO:equivalentTo"} xref: OMIM:250620 {source="MONDO:equivalentTo", source="Orphanet:88639", source="Orphanet:88639/e"} @@ -182951,9 +185730,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009604 name: methemoglobin reductase deficiency +subset: gard_rare {source="GARD:3909"} synonym: "methemoglobin reductase deficiency" EXACT [OMIM:250700] synonym: "NADPH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250700] synonym: "TPNH-methemoglobin reductase deficiency" RELATED [OMIM:250700] +xref: GARD:3909 {source="OMIM:250700"} xref: MESH:C563171 {source="MONDO:equivalentTo"} xref: OMIM:250700 {source="MONDO:equivalentTo"} xref: Orphanet:621 {source="OMIM:250700"} @@ -182967,6 +185748,7 @@ property_value: confidence "0.11111111111111449" xsd:double id: MONDO:0009605 name: methemoglobinemia type 4 def: "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15196"} synonym: "CYB5A methemoglobinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [OMIM:250790] synonym: "METAG" RELATED ABBREVIATION [OMIM:250790] @@ -182978,6 +185760,7 @@ synonym: "methemoglobinemia type 4" EXACT CLINGEN_PREFERRED [] synonym: "methemoglobinemia type IV" RELATED [OMIM:250790] synonym: "methemoglobinemia type IV, formerly" RELATED [OMIM:250790] xref: DOID:0112316 {source="MONDO:equivalentTo"} +xref: GARD:15196 {source="OMIM:250790"} xref: MESH:C567102 {source="MONDO:equivalentTo"} xref: OMIM:250790 {source="MONDO:equivalentTo"} xref: Orphanet:621 {source="OMIM:250790"} @@ -182992,6 +185775,7 @@ property_value: confidence "0.11111111111111449" xsd:double [Term] id: MONDO:0009606 name: methemoglobinemia due to deficiency of methemoglobin reductase +subset: gard_rare {source="GARD:15197"} synonym: "methemoglobinemia due to deficiency of methemoglobin reductase" EXACT [OMIM:250800] synonym: "methemoglobinemia, congenital, autosomal recessive" RELATED [OMIM:250800] synonym: "methemoglobinemia, type 1" RELATED [OMIM:250800] @@ -183005,6 +185789,7 @@ synonym: "NADH-cytochrome B5 reductase deficiency" RELATED [OMIM:250800] synonym: "NADH-cytochrome B5 reductase deficiency, type 1" RELATED [OMIM:250800] synonym: "NADH-cytochrome B5 reductase deficiency, type 2" RELATED [OMIM:250800] synonym: "NADH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250800] +xref: GARD:15197 {source="OMIM:250800"} xref: OMIM:250800 {source="MONDO:equivalentTo"} xref: Orphanet:139373 {source="OMIM:250800"} xref: Orphanet:139380 {source="OMIM:250800"} @@ -183024,6 +185809,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009607 name: methionine adenosyltransferase deficiency def: "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." [Orphanet:168598] +subset: gard_rare {source="GARD:8397"} subset: ordo_disease {source="Orphanet:168598"} synonym: "brain demyelination due to methionine adenosyltransferase deficiency" EXACT [ClinGen:AminoacidopathyGeneCurationPanel, https://orcid.org/0000-0002-5655-9589] synonym: "hypermethioninemia, isolated persistent" RELATED [OMIM:250850] @@ -183035,6 +185821,7 @@ synonym: "Mat I/III deficiency" RELATED [OMIM:250850] synonym: "methionine adenosyltransferase deficiency" EXACT CLINGEN_PREFERRED [OMIM:250850, Orphanet:168598] synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [OMIM:250850, OMIM:genemap2] synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850] +xref: GARD:8397 {source="Orphanet:168598"} xref: ICD10CM:E72.1 {source="Orphanet:168598", source="Orphanet:168598/attributed", source="Orphanet:168598/ntbt"} xref: NCIT:C123435 {source="MONDO:equivalentTo"} xref: OMIM:250850 {source="Orphanet:168598", source="MONDO:equivalentTo", source="Orphanet:168598/e"} @@ -183062,7 +185849,7 @@ is_a: MONDO:0003847 {source="MESH:C562682/inferred"} ! hereditary disease id: MONDO:0009609 name: methylcobalamin deficiency type cblG def: "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." [https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type] -subset: gard_rare {source="GARD:0003577"} +subset: gard_rare {source="GARD:3577"} subset: ordo_clinical_subtype {source="Orphanet:2170"} synonym: "cblG" RELATED [GARD:0003577] synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170] @@ -183079,6 +185866,7 @@ synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [DOID:005 xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"} xref: DOID:0112256 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0005597 {source="MONDO:equivalentTo"} +xref: GARD:3577 {source="Orphanet:2170"} xref: ICD10CM:E72.1 {source="Orphanet:2170/attributed", source="Orphanet:2170/ntbt", source="Orphanet:2170"} xref: OMIM:250940 {source="Orphanet:2170/e", source="MONDO:equivalentTo", source="Orphanet:2170"} xref: Orphanet:2170 {source="MONDO:equivalentTo", source="OMIM:250940"} @@ -183098,6 +185886,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3577/methylc id: MONDO:0009610 name: 3-methylglutaconic aciduria type 1 def: "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." [Orphanet:67046] +subset: gard_rare {source="GARD:10321"} subset: ordo_disease {source="Orphanet:67046"} synonym: "3 alpha methylglutaconic aciduria type I" RELATED [GARD:0010321] synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321] @@ -183122,6 +185911,7 @@ synonym: "Mga, type 1" RELATED [OMIM:250950] synonym: "MGA1" EXACT ABBREVIATION [DOID:0110002, Orphanet:67046] synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950] xref: DOID:0110002 {source="MONDO:equivalentTo"} +xref: GARD:10321 {source="Orphanet:67046"} xref: ICD10CM:E71.1 {source="Orphanet:67046/attributed", source="Orphanet:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"} xref: MESH:C562801 {source="MONDO:equivalentTo"} xref: NCIT:C98683 {source="MONDO:equivalentTo"} @@ -183142,7 +185932,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009611 name: 3-methylglutaconic aciduria type 4 def: "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." [Orphanet:67048] -subset: gard_rare +subset: gard_rare {source="GARD:10342"} subset: ordo_disease {source="Orphanet:67048"} synonym: "3 alpha methylglutaconic aciduria type IV" RELATED [GARD:0010342] synonym: "3 methylglutaconic aciduria type IV" RELATED [GARD:0010342] @@ -183155,6 +185945,7 @@ synonym: "MGA4" EXACT ABBREVIATION [DOID:0110006, Orphanet:67048] synonym: "MGCA4" EXACT ABBREVIATION [DOID:0110006, MONDO:Lexical, OMIM:250951] synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342] xref: DOID:0110006 {source="MONDO:equivalentTo"} +xref: GARD:10342 {source="Orphanet:67048"} xref: ICD10CM:E71.1 {source="Orphanet:67048/attributed", source="Orphanet:67048/ntbt", source="Orphanet:67048"} xref: MESH:C565393 {source="MONDO:equivalentTo"} xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="Orphanet:67048/e", source="MONDO:equivalentTo", source="Orphanet:67048"} @@ -183170,6 +185961,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10342/not-ot id: MONDO:0009612 name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency def: "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." [Orphanet:27] +subset: gard_rare {source="GARD:3586"} subset: ordo_disease {source="Orphanet:27"} synonym: "MCM deficiency" RELATED [GARD:0003586] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740] @@ -183184,6 +185976,7 @@ synonym: "methylmalonyl-Coenzyme A mutase deficiency" EXACT [Orphanet:27] synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27] xref: DOID:0060740 {source="MONDO:equivalentTo"} +xref: GARD:3586 {source="Orphanet:27"} xref: ICD10CM:E71.1 {source="DOID:0060740", source="Orphanet:27/inclusion", source="Orphanet:27", source="Orphanet:27/ntbt"} xref: MESH:C565390 {source="MONDO:equivalentTo"} xref: NCIT:C148366 {source="MONDO:equivalentTo"} @@ -183203,6 +185996,7 @@ property_value: confidence "11.249999999999986" xsd:double id: MONDO:0009613 name: methylmalonic aciduria, cblA type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." [NCIT:C142171] +subset: gard_rare {source="GARD:5500"} subset: ordo_clinical_subtype {source="Orphanet:79310"} synonym: "cblA - cobalamin locus a" RELATED [] synonym: "cblA methylmalonic acidemia" RELATED [] @@ -183225,6 +186019,7 @@ synonym: "MMA Cbl A type" RELATED [GARD:0005500] synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT CLINGEN_PREFERRED [Orphanet:79310] synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310] xref: DOID:0060742 {source="MONDO:equivalentTo"} +xref: GARD:5500 {source="Orphanet:79310"} xref: ICD10CM:E71.1 {source="DOID:0060742", source="Orphanet:79310/attributed", source="Orphanet:79310/ntbt", source="Orphanet:79310"} xref: MESH:C537360 {source="Orphanet:79310/e", source="Orphanet:79310"} xref: NCIT:C142171 {source="MONDO:equivalentTo"} @@ -183246,6 +186041,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009614 name: methylmalonic aciduria, cblB type def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." [NCIT:C142172] +subset: gard_rare {source="GARD:9479"} subset: ordo_clinical_subtype {source="Orphanet:79311"} synonym: "methylmalonic acidemia cblB type" EXACT [DOID:0060743, GARD:0009479] synonym: "methylmalonic acidemia, cblB type" EXACT [OMIM:251110] @@ -183257,6 +186053,7 @@ synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synth synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT [Orphanet:79311] synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311] xref: DOID:0060743 {source="MONDO:equivalentTo"} +xref: GARD:9479 {source="Orphanet:79311"} xref: ICD10CM:E71.1 {source="DOID:0060743", source="Orphanet:79311/attributed", source="Orphanet:79311/ntbt", source="Orphanet:79311"} xref: MESH:C537361 {source="Orphanet:79311/e", source="Orphanet:79311"} xref: NCIT:C142172 {source="MONDO:equivalentTo"} @@ -183274,6 +186071,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009615 name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency def: "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." [Orphanet:308425] +subset: gard_rare {source="GARD:17390"} subset: ordo_disease {source="Orphanet:308425"} synonym: "MCEE deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" EXACT CLINGEN_PREFERRED [] @@ -183285,6 +186083,7 @@ synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120] synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120] +xref: GARD:17390 {source="Orphanet:308425"} xref: ICD10CM:E71.1 {source="Orphanet:308425/attributed", source="Orphanet:308425/ntbt", source="Orphanet:308425"} xref: MESH:C565386 {source="MONDO:equivalentTo"} xref: OMIM:251120 {source="Orphanet:308425/e", source="MONDO:equivalentTo", source="Orphanet:308425"} @@ -183302,11 +186101,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009616 name: microcephalic primordial dwarfism, Toriello type def: "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." [Orphanet:2643] -subset: gard_rare {source="GARD:0003602"} +subset: gard_rare {source="GARD:3602"} subset: ordo_malformation_syndrome {source="Orphanet:2643"} synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190] +xref: GARD:3602 {source="Orphanet:2643"} xref: ICD10CM:Q87.1 {source="Orphanet:2643/attributed", source="Orphanet:2643/ntbt", source="Orphanet:2643"} xref: MESH:C537321 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: OMIM:251190 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} @@ -183326,6 +186126,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3602/microce id: MONDO:0009617 name: microcephaly 1, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15198"} synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern] synonym: "MCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251200] synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -183335,6 +186136,7 @@ synonym: "premature chromosome condensation syndrome" RELATED [OMIM:251200] synonym: "premature chromosome condensation with microcephaly and intellectual disability" RELATED [OMIM:251200] synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:251200] xref: DOID:0070285 {source="MONDO:equivalentTo"} +xref: GARD:15198 {source="OMIM:251200"} xref: MESH:C565384 {source="MONDO:equivalentTo"} xref: OMIM:251200 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:251200"} @@ -183352,6 +186154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009618 name: microcephaly-cardiomyopathy syndrome def: "A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." [Orphanet:2515] +subset: gard_rare {source="GARD:3609"} subset: ordo_malformation_syndrome {source="Orphanet:2515"} synonym: "microcephaly with cardiomyopathy" RELATED [GARD:0003609] synonym: "microcephaly-cardiomyopathy" RELATED [OMIM:251220] @@ -183359,6 +186162,7 @@ synonym: "severe microcephaly and self-limiting dilated cardiomyopathy" RELATED synonym: "severe microcephaly with intellectual disability and dilated cardiomyopathy" RELATED [GARD:0003609] synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED DEPRECATED [GARD:0003609] synonym: "Winship-Viljoen-Leary syndrome" EXACT [Orphanet:2515] +xref: GARD:3609 {source="Orphanet:2515"} xref: ICD10CM:Q87.8 {source="Orphanet:2515", source="Orphanet:2515/attributed", source="Orphanet:2515/ntbt"} xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"} xref: MESH:C537324 {source="Orphanet:2515", source="Orphanet:2515/e"} @@ -183378,8 +186182,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009619 name: microcephaly-micromelia syndrome +subset: gard_rare {source="GARD:18011"} synonym: "microcephaly-micromelia syndrome" EXACT [OMIM:251230] synonym: "MIMIS" RELATED ABBREVIATION [OMIM:251230] +xref: GARD:18011 {source="Orphanet:572768"} xref: MESH:C565382 {source="MONDO:equivalentTo"} xref: OMIM:251230 {source="MONDO:equivalentTo"} xref: Orphanet:572768 {source="MONDO:equivalentTo"} @@ -183391,12 +186197,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009620 name: Say-Barber-Miller syndrome def: "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." [Orphanet:3132] -subset: gard_rare {source="GARD:0000239"} +subset: gard_rare {source="GARD:239"} subset: ordo_malformation_syndrome {source="Orphanet:3132"} synonym: "microcephaly hypogammaglobulinemia abnormal immunity" RELATED [GARD:0000239] synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [OMIM:251240] synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132] synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239] +xref: GARD:239 {source="Orphanet:3132"} xref: ICD10CM:Q87.8 {source="Orphanet:3132/attributed", source="Orphanet:3132/ntbt", source="Orphanet:3132"} xref: MESH:C536618 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} xref: OMIM:251240 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} @@ -183420,11 +186227,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/239/say-barb id: MONDO:0009621 name: microcephaly-cervical spine fusion anomalies syndrome def: "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." [Orphanet:2522] +subset: gard_rare {source="GARD:3610"} subset: ordo_malformation_syndrome {source="Orphanet:2522"} synonym: "microcephaly cervical spine fusion anomalies" RELATED [GARD:0003610] synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:251250] synonym: "microcephaly, mild intellectual disability, short stature, and skeletal anomalies" RELATED [GARD:0003610] synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED DEPRECATED [GARD:0003610] +xref: GARD:3610 {source="Orphanet:2522"} xref: ICD10CM:Q87.8 {source="Orphanet:2522/attributed", source="Orphanet:2522/ntbt", source="Orphanet:2522"} xref: MESH:C537325 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} xref: OMIM:251250 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} @@ -183441,6 +186250,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009622 name: Jawad syndrome def: "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." [Orphanet:313795] +subset: gard_rare {source="GARD:17410"} subset: ordo_malformation_syndrome {source="Orphanet:313795"} synonym: "JAWAD syndrome" RELATED [OMIM:251255] synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255] @@ -183448,6 +186258,7 @@ synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251255] synonym: "Kelly syndrome" RELATED [OMIM:251255] synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [OMIM:251255] synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [OMIM:251255] +xref: GARD:17410 {source="Orphanet:313795"} xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="Orphanet:313795/e"} xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C0796063 {source="Orphanet:313795", source="MONDO:equivalentTo", source="OMIM:251255"} @@ -183461,7 +186272,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0009623 name: Nijmegen breakage syndrome def: "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." [Orphanet:647] -subset: gard_rare {source="GARD:0003904"} +subset: gard_rare {source="GARD:3904"} subset: ordo_malformation_syndrome {source="Orphanet:647"} synonym: "AT V1" EXACT [Orphanet:647] synonym: "ataxia-telangiectasia variant V1" RELATED [OMIM:251260] @@ -183483,6 +186294,7 @@ synonym: "Seemanova syndrome" EXACT [DOID:7400] synonym: "Seemanova syndrome 2" RELATED [OMIM:251260] synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647] xref: DOID:7400 {source="MONDO:equivalentTo"} +xref: GARD:3904 {source="Orphanet:647"} xref: ICD10CM:Q87.8 {source="Orphanet:647/attributed", source="Orphanet:647/ntbt", source="Orphanet:647"} xref: MedDRA:10067857 {source="Orphanet:647", source="Orphanet:647/e"} xref: MESH:C531759 {source="Orphanet:647", source="Orphanet:647/e"} @@ -183509,6 +186321,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3904/nijmege id: MONDO:0009624 name: microcephaly and chorioretinopathy 1 def: "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." [NCIT:C129306] +subset: gard_rare {source="GARD:16603", source="GARD:18481"} subset: ordo_malformation_syndrome {source="Orphanet:2518"} synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518] synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518] @@ -183521,6 +186334,8 @@ synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518] synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080105 {source="MONDO:equivalentTo"} +xref: GARD:16603 {source="Orphanet:2518"} +xref: GARD:18481 {source="OMIM:251270"} xref: ICD10CM:Q87.8 {source="Orphanet:2518/attributed", source="Orphanet:2518/ntbt", source="Orphanet:2518"} xref: NCIT:C129306 {source="MONDO:equivalentTo"} xref: OMIM:251270 {source="Orphanet:2518/e", source="MONDO:equivalentTo", source="DOID:0080105", source="Orphanet:2518"} @@ -183542,7 +186357,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 [Term] id: MONDO:0009625 name: diencephalic-mesencephalic junction dysplasia syndrome 1 -subset: gard_rare {source="GARD:0008510"} synonym: "DMJDS1" EXACT ABBREVIATION [OMIM:251280] synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280] synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280] @@ -183558,7 +186372,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8510/microce id: MONDO:0009626 name: pseudo-TORCH syndrome def: "A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." [Orphanet:1229] -subset: gard_rare +subset: gard_rare {source="GARD:12426"} subset: ordo_malformation_syndrome {source="Orphanet:1229"} subset: prototype_pattern synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656, MONDO:Lexical, OMIM:251290] @@ -183574,6 +186388,7 @@ synonym: "microcephaly intracranial calcification" RELATED [GARD:0000815] synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [Orphanet:1229] synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229] xref: DOID:0050656 {source="MONDO:equivalentTo"} +xref: GARD:12426 {source="Orphanet:1229"} xref: ICD10CM:Q87.8 {source="Orphanet:1229/attributed", source="Orphanet:1229/ntbt", source="Orphanet:1229"} xref: OMIMPS:251290 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1229 {source="OMIM:251290", source="MONDO:equivalentTo"} @@ -183590,7 +186405,7 @@ property_value: confidence "3.2857142857142856" xsd:double id: MONDO:0009627 name: Galloway-Mowat syndrome def: "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." [Orphanet:2065] -subset: gard_rare +subset: gard_rare {source="GARD:65"} subset: ordo_malformation_syndrome {source="Orphanet:2065"} subset: prototype_pattern synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300] @@ -183610,6 +186425,7 @@ synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [DOID:0060364, Orphane synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [OMIM:251300] synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300] xref: DOID:0080694 {source="MONDO:equivalentTo"} +xref: GARD:65 {source="Orphanet:2065"} xref: ICD10CM:Q04.3 {source="Orphanet:2065/attributed", source="Orphanet:2065/ntbt", source="Orphanet:2065"} xref: MESH:C537548 {source="DOID:0060364", source="Orphanet:2065/e", source="DOID:0080694", source="MONDO:equivalentTo", source="Orphanet:2065"} xref: NCIT:C132195 {source="DOID:0080694", source="MONDO:equivalentTo"} @@ -183648,6 +186464,7 @@ consider: HP:0004388 id: MONDO:0009629 name: Desbuquois dysplasia 1 def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16451"} synonym: "CANT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DBQD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251450] synonym: "Desbuquois dysplasia 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:251450] @@ -183656,6 +186473,7 @@ synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1, OMIM:251450] synonym: "Desbuquois dysplasia, Kim variant" RELATED [OMIM:251450] synonym: "desbuquois syndrome" RELATED [OMIM:251450] synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [OMIM:251450] +xref: GARD:16451 {source="OMIM:251450"} xref: OMIM:251450 {source="MONDO:equivalentTo"} xref: Orphanet:1425 {source="OMIM:251450"} xref: UMLS:C0432242 {source="OMIM:251450"} @@ -183671,10 +186489,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009630 name: microphthalmia, isolated, with coloboma 4 +subset: gard_rare {source="GARD:15200"} synonym: "MCOPCB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251505] synonym: "microphthalmia with colobomatous cyst" RELATED [OMIM:251505] synonym: "microphthalmia, isolated, with coloboma 4" EXACT [MONDO:Lexical, OMIM:251505] synonym: "microphthalmia, isolated, with coloboma type 4" EXACT [MONDORULE:1, OMIM:251505] +xref: GARD:15200 {source="OMIM:251505"} xref: MESH:C565378 {source="MONDO:equivalentTo"} xref: OMIM:251505 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:251505"} @@ -183728,7 +186548,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009634 name: microtia with meatal atresia and conductive deafness -subset: gard_rare synonym: "familial microtia and meatal atresia" RELATED [GARD:0003657] synonym: "familial microtia with meatal atresia and conductive deafness" RELATED [GARD:0003657] synonym: "Gupta Patton syndrome" RELATED [GARD:0000357] @@ -183746,6 +186565,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009635 name: microvillus inclusion disease def: "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." [Orphanet:2290] +subset: gard_rare {source="GARD:7039"} subset: ordo_disease {source="Orphanet:2290"} synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039] synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850] @@ -183775,6 +186595,7 @@ synonym: "MYO5B secretory diarrhoea" EXACT OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in MYO5B" EXACT OMO:0003005 [] xref: DOID:0060775 {source="MONDO:equivalentTo"} +xref: GARD:7039 {source="Orphanet:2290"} xref: ICD10CM:P78.3 {source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/attributed", source="Orphanet:2290/ntbt"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068494 {source="Orphanet:2290", source="Orphanet:2290/e"} @@ -183791,6 +186612,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009636 name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type) def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13644"} subset: ordo_disease {source="Orphanet:279934"} synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 3" EXACT CLINGEN_PREFERRED [] @@ -183800,6 +186622,7 @@ synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MOND synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934] synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251880] xref: DOID:0080121 {source="MONDO:equivalentTo"} +xref: GARD:13644 {source="Orphanet:279934"} xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="Orphanet:279934", source="Orphanet:279934/e"} xref: Orphanet:279934 {source="MONDO:equivalentTo", source="OMIM:251880"} xref: UMLS:C3151513 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251880"} @@ -183817,10 +186640,12 @@ id: MONDO:0009637 name: inborn mitochondrial myopathy def: "Myopathy caused by mitochondrial abnormalities." [NCIT:C101328] subset: disease_grouping +subset: gard_rare {source="GARD:20371"} subset: ordo_group_of_disorders {source="Orphanet:206966"} synonym: "mitochondrial cytopathy" EXACT [DOID:699] synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900] xref: DOID:699 {source="MONDO:equivalentTo"} +xref: GARD:20371 {source="Orphanet:206966"} xref: ICD10CM:G71.3 {source="Orphanet:206966", source="Orphanet:206966/attributed", source="Orphanet:206966/ntbt"} xref: MedDRA:10027710 {source="Orphanet:206966", source="Orphanet:206966/e"} xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="MONDO:equivalentTo", source="Orphanet:206966/e"} @@ -183872,6 +186697,7 @@ replaced_by: MONDO:0100294 id: MONDO:0009642 name: orofaciodigital syndrome type II def: "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." [Orphanet:2751] +subset: gard_rare {source="GARD:3701"} subset: ordo_malformation_syndrome {source="Orphanet:2751"} synonym: "MOHR syndrome" EXACT [OMIM:252100] synonym: "Mohr syndrome" EXACT [Orphanet:2751] @@ -183885,6 +186711,7 @@ synonym: "oral-Facial-digital syndrome, type 2" RELATED [OMIM:252100] synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100] synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701] synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751] +xref: GARD:3701 {source="Orphanet:2751"} xref: ICD10CM:Q87.0 {source="Orphanet:2751", source="Orphanet:2751/attributed", source="Orphanet:2751/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538585 {source="Orphanet:2751", source="Orphanet:2751/e"} @@ -183904,6 +186731,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009643 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +subset: gard_rare {source="GARD:17386"} subset: ordo_etiological_subtype {source="Orphanet:308386"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [DOID:0111164, Orphanet:308386] synonym: "MOCOD type A" EXACT [DOID:0111164, Orphanet:308386] @@ -183915,6 +186743,7 @@ synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MOND synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150] synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150] xref: DOID:0111164 {source="MONDO:equivalentTo"} +xref: GARD:17386 {source="Orphanet:308386"} xref: ICD10CM:E72.1 {source="Orphanet:308386", source="Orphanet:308386/attributed", source="Orphanet:308386/ntbt"} xref: MESH:C565372 {source="MONDO:equivalentTo"} xref: OMIM:252150 {source="MONDO:equivalentTo", source="DOID:0111164", source="Orphanet:308386", source="Orphanet:308386/e"} @@ -183932,6 +186761,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009644 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +subset: gard_rare {source="GARD:17387"} subset: ordo_etiological_subtype {source="Orphanet:308393"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [DOID:0111163, Orphanet:308393] synonym: "MOCOD type B" EXACT [DOID:0111163, Orphanet:308393] @@ -183943,6 +186773,7 @@ synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MOND synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160] synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT CLINGEN_PREFERRED [] xref: DOID:0111163 {source="MONDO:equivalentTo"} +xref: GARD:17387 {source="Orphanet:308393"} xref: ICD10CM:E72.1 {source="Orphanet:308393/attributed", source="Orphanet:308393/ntbt", source="Orphanet:308393"} xref: MESH:C565373 {source="MONDO:equivalentTo"} xref: OMIM:252160 {source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163", source="Orphanet:308393/e"} @@ -183959,7 +186790,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009645 name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder +subset: gard_rare {source="GARD:15203"} synonym: "monocyte chemotactic disorder" EXACT [OMIM:252250] +xref: GARD:15203 {source="OMIM:252250"} xref: MESH:C565371 {source="MONDO:equivalentTo"} xref: OMIM:252250 {source="MONDO:equivalentTo"} xref: UMLS:C1854982 {source="OMIM:252250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -183969,11 +186802,13 @@ property_value: confidence "2.323076923076922" xsd:double [Term] id: MONDO:0009646 name: monosomy 7 myelodysplasia and leukemia syndrome 1 +subset: gard_rare {source="GARD:18505"} synonym: "chromosome 7Q deletion" EXACT [OMIM:252270] synonym: "M7MLS1" EXACT ABBREVIATION [OMIM:252270] synonym: "monosomy 7 of bone marrow" EXACT [OMIM:252270] synonym: "myelodysplasia and leukaemia syndrome with monosomy 7" EXACT OMO:0003005 [] synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [OMIM:252270] +xref: GARD:18505 {source="OMIM:252270"} xref: MESH:C565370 {source="MONDO:equivalentTo"} xref: NCIT:C176908 {source="MONDO:equivalentTo"} xref: OMIM:252270 {source="MONDO:equivalentTo"} @@ -183998,9 +186833,11 @@ property_value: confidence "3.3209876543209873" xsd:double id: MONDO:0009648 name: peripheral motor neuropathy-dysautonomia syndrome def: "Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive." [Orphanet:2400] +subset: gard_rare {source="GARD:3791"} subset: ordo_disease {source="Orphanet:2400"} synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400] synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320] +xref: GARD:3791 {source="Orphanet:2400"} xref: MESH:C536988 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} xref: OMIM:252320 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} xref: Orphanet:2400 {source="MONDO:equivalentTo", source="OMIM:252320"} @@ -184029,6 +186866,7 @@ property_value: confidence "1.0943562610229276" xsd:double id: MONDO:0009650 name: mucolipidosis type II def: "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." [Orphanet:576] +subset: gard_rare {source="GARD:6749"} subset: ordo_disease {source="Orphanet:576"} synonym: "GNPTA" RELATED ABBREVIATION [GARD:0006749] synonym: "I cell disease" RELATED [GARD:0006749] @@ -184047,6 +186885,7 @@ synonym: "mucolipidosis type II alpha/beta" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749] xref: DOID:0080070 {source="MONDO:equivalentTo"} +xref: GARD:6749 {source="Orphanet:576"} xref: ICD10CM:E77.0 {source="Orphanet:576", source="Orphanet:576/ntbt", source="Orphanet:576/inclusion"} xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e"} xref: NCIT:C61270 {source="MONDO:equivalentTo"} @@ -184078,6 +186917,7 @@ replaced_by: MONDO:0018931 id: MONDO:0009652 name: GNPTG-mucolipidosis def: "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:423470] +subset: gard_rare {source="GARD:17705"} subset: ordo_clinical_subtype {source="Orphanet:423470"} synonym: "GNPTG-mucolipidosis" EXACT CLINGEN_PREFERRED [https://orcid.org/0000-0002-5655-9589] synonym: "ML 3 gamma" EXACT [OMIM:252605, Orphanet:423470] @@ -184092,6 +186932,7 @@ synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605] synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470] synonym: "mucolipidosis type III gamma" EXACT [Orphanet:423470] xref: DOID:0080678 {source="MONDO:equivalentTo"} +xref: GARD:17705 {source="Orphanet:423470"} xref: ICD10CM:E77.0 {source="Orphanet:423470/attributed", source="Orphanet:423470/ntbt", source="Orphanet:423470"} xref: MESH:C565367 {source="MONDO:equivalentTo"} xref: NCIT:C129978 {source="MONDO:equivalentTo"} @@ -184110,7 +186951,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009653 name: mucolipidosis type IV def: "A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." [Orphanet:578] -subset: gard_rare +subset: gard_rare {source="GARD:94"} subset: ordo_disease {source="Orphanet:578"} synonym: "Berman syndrome" RELATED [GARD:0000094, GTR:AN1125032] synonym: "ganglioside neuraminidase deficiency" RELATED [GARD:0000094, GTR:AN1125033] @@ -184125,6 +186966,7 @@ synonym: "mucolipidosis type 4" EXACT [MONDORULE:1, OMIM:252650] synonym: "mucolipidosis type IV" EXACT [GARD:0000094] synonym: "sialolipidosis" RELATED [OMIM:252650] xref: DOID:0080490 {source="MONDO:equivalentTo"} +xref: GARD:94 {source="Orphanet:578"} xref: GTR:AN1124590 xref: GTR:AN1125032 xref: GTR:AN1125033 @@ -184162,7 +187004,7 @@ consider: MONDO:0019249 id: MONDO:0009655 name: mucopolysaccharidosis type 3A def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." [NCIT:C84897] -subset: gard_rare +subset: gard_rare {source="GARD:7071"} subset: ordo_etiological_subtype {source="Orphanet:79269"} synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269] synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] @@ -184184,6 +187026,7 @@ synonym: "Sanfilippo syndrome a" EXACT [OMIM:252900] synonym: "Sanfilippo syndrome type A" EXACT [OMIM:252900] synonym: "sulfamidase deficiency" RELATED [OMIM:252900] xref: DOID:0111395 {source="MONDO:equivalentTo"} +xref: GARD:7071 {source="Orphanet:79269"} xref: ICD10CM:E76.2 {source="Orphanet:79269/attributed", source="Orphanet:79269/ntbt", source="Orphanet:79269"} xref: NCIT:C84897 {source="MONDO:equivalentTo"} xref: OMIM:252900 {source="Orphanet:79269/e", source="MONDO:equivalentTo", source="Orphanet:79269"} @@ -184206,6 +187049,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009656 name: mucopolysaccharidosis type 3B def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84898] +subset: gard_rare {source="GARD:7072"} subset: ordo_etiological_subtype {source="Orphanet:79270"} synonym: "MPS 3B" RELATED [OMIM:252920] synonym: "MPS III B" EXACT [NCIT:C84898] @@ -184225,6 +187069,7 @@ synonym: "Sanfilippo B" EXACT [NCIT:C84898] synonym: "Sanfilippo syndrome B" EXACT [OMIM:252920] synonym: "Sanfilippo syndrome type B" EXACT [OMIM:252920] xref: DOID:0111394 {source="MONDO:equivalentTo"} +xref: GARD:7072 {source="Orphanet:79270"} xref: ICD10CM:E76.2 {source="Orphanet:79270/attributed", source="Orphanet:79270/ntbt", source="Orphanet:79270"} xref: NCIT:C84898 {source="MONDO:equivalentTo"} xref: OMIM:252920 {source="Orphanet:79270", source="MONDO:equivalentTo", source="Orphanet:79270/e"} @@ -184244,6 +187089,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009657 name: mucopolysaccharidosis type 3C def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84899] +subset: gard_rare {source="GARD:7073"} subset: ordo_etiological_subtype {source="Orphanet:79271"} synonym: "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" RELATED [GARD:0007073] synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [OMIM:252930] @@ -184264,6 +187110,7 @@ synonym: "Sanfilippo C" EXACT [NCIT:C84899] synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930] synonym: "Sanfilippo syndrome type C" EXACT [OMIM:252930] xref: DOID:0111393 {source="MONDO:equivalentTo"} +xref: GARD:7073 {source="Orphanet:79271"} xref: ICD10CM:E76.2 {source="Orphanet:79271", source="Orphanet:79271/attributed", source="Orphanet:79271/ntbt"} xref: NCIT:C84899 {source="MONDO:equivalentTo"} xref: OMIM:252930 {source="MONDO:equivalentTo", source="Orphanet:79271", source="Orphanet:79271/e"} @@ -184283,6 +187130,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009658 name: mucopolysaccharidosis type 3D def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." [NCIT:C84900] +subset: gard_rare {source="GARD:7074"} subset: ordo_etiological_subtype {source="Orphanet:79272"} synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272] synonym: "GNS deficiency" EXACT [Orphanet:79272] @@ -184302,6 +187150,7 @@ synonym: "Sanfilippo D" EXACT [NCIT:C84900] synonym: "Sanfilippo syndrome D" EXACT [OMIM:252940] synonym: "Sanfilippo syndrome type D" EXACT CLINGEN_PREFERRED [OMIM:252940] xref: DOID:0111402 {source="MONDO:equivalentTo"} +xref: GARD:7074 {source="Orphanet:79272"} xref: ICD10CM:E76.2 {source="Orphanet:79272", source="Orphanet:79272/attributed", source="Orphanet:79272/ntbt"} xref: NCIT:C84900 {source="MONDO:equivalentTo"} xref: OMIM:252940 {source="MONDO:equivalentTo", source="Orphanet:79272", source="Orphanet:79272/e"} @@ -184320,6 +187169,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009659 name: mucopolysaccharidosis type 4A def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." [NCIT:C84901] +subset: gard_rare {source="GARD:3785"} subset: ordo_clinical_subtype {source="Orphanet:309297"} synonym: "galactosamine-6-sulfatase deficiency" EXACT [Orphanet:309297] synonym: "GALNS deficiency" EXACT [OMIM:253000, Orphanet:309297] @@ -184338,6 +187188,7 @@ synonym: "mucopolysaccharidosis, type 4A" RELATED [OMIM:253000] synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000] synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297] xref: DOID:0111391 {source="MONDO:equivalentTo"} +xref: GARD:3785 {source="Orphanet:309297"} xref: ICD10CM:E76.2 {source="Orphanet:309297", source="Orphanet:309297/attributed", source="Orphanet:309297/ntbt"} xref: NCIT:C84901 {source="MONDO:equivalentTo"} xref: OMIM:253000 {source="MONDO:equivalentTo", source="Orphanet:309297", source="Orphanet:309297/e"} @@ -184359,6 +187210,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009660 name: mucopolysaccharidosis type 4B def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." [NCIT:C84902] +subset: gard_rare {source="GARD:3786"} subset: ordo_clinical_subtype {source="Orphanet:309310"} synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310] synonym: "Morquio disease type B" EXACT [Orphanet:309310] @@ -184373,6 +187225,7 @@ synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [OMIM:253010, OMIM:gen synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010] synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010] xref: DOID:0111392 {source="MONDO:equivalentTo"} +xref: GARD:3786 {source="Orphanet:309310"} xref: ICD10CM:E76.2 {source="Orphanet:309310", source="Orphanet:309310/attributed", source="Orphanet:309310/ntbt"} xref: NCIT:C84902 {source="MONDO:equivalentTo"} xref: OMIM:253010 {source="MONDO:equivalentTo", source="Orphanet:309310", source="Orphanet:309310/e"} @@ -184393,6 +187246,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009661 name: mucopolysaccharidosis type 6 def: "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." [Orphanet:583] +subset: gard_rare {source="GARD:7095"} subset: ordo_disease {source="Orphanet:583"} synonym: "ARSB deficiency" EXACT [Orphanet:583] synonym: "Arsb deficiency" RELATED [OMIM:253200] @@ -184415,6 +187269,7 @@ synonym: "mucopolysaccharidosis VI" RELATED [DOID:12800] synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583] synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200] xref: DOID:12800 {source="MONDO:equivalentTo"} +xref: GARD:7095 {source="Orphanet:583"} xref: ICD10CM:E76.2 {source="Orphanet:583/inclusion", source="Orphanet:583/ntbt", source="Orphanet:583"} xref: MedDRA:10056892 {source="Orphanet:583/e", source="Orphanet:583"} xref: MESH:D009087 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} @@ -184442,6 +187297,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009662 name: mucopolysaccharidosis type 7 def: "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." [Orphanet:584] +subset: gard_rare {source="GARD:7096"} subset: ordo_disease {source="Orphanet:584"} synonym: "Beta-glucuronidase deficiency" EXACT [Orphanet:584] synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803] @@ -184464,6 +187320,7 @@ synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical, OMIM:253220] synonym: "Sly disease" EXACT [Orphanet:584] synonym: "Sly syndrome" EXACT [OMIM:253220] xref: DOID:12803 {source="MONDO:equivalentTo"} +xref: GARD:7096 {source="Orphanet:584"} xref: ICD10CM:E76.2 {source="Orphanet:584/ntbt", source="Orphanet:584/inclusion", source="Orphanet:584"} xref: ICD10CM:E76.29 {source="DOID:12803"} xref: MedDRA:10056893 {source="Orphanet:584/e", source="Orphanet:584"} @@ -184500,7 +187357,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009664 name: mulibrey nanism def: "A prenatal onset growth disorder with multiorgan manifestations." [Orphanet:2576] -subset: gard_rare {source="GARD:0000095"} +subset: gard_rare {source="GARD:95"} subset: ordo_malformation_syndrome {source="Orphanet:2576"} synonym: "MUL" EXACT ABBREVIATION [Orphanet:2576] synonym: "mulibrey dwarfism" EXACT [Orphanet:2576] @@ -184511,6 +187368,7 @@ synonym: "pericardial constriction and Growth failure" RELATED [OMIM:253250] synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436] synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576] xref: DOID:0050436 {source="MONDO:equivalentTo"} +xref: GARD:95 {source="Orphanet:2576"} xref: ICD10CM:Q87.1 {source="Orphanet:2576/attributed", source="Orphanet:2576/ntbt", source="Orphanet:2576"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538604 {source="Orphanet:2576", source="Orphanet:2576/e"} @@ -184536,6 +187394,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/95/mulibrey- id: MONDO:0009665 name: biotinidase deficiency def: "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." [Orphanet:79241] +subset: gard_rare {source="GARD:894"} subset: ordo_disease {source="Orphanet:79241"} synonym: "biotin deficiency" RELATED [GARD:0000894] synonym: "biotinidase deficiency" EXACT CLINGEN_PREFERRED [OMIM:253260] @@ -184547,6 +187406,7 @@ synonym: "late-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet: synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [OMIM:253260] synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260] xref: DOID:856 {source="MONDO:equivalentTo"} +xref: GARD:894 {source="Orphanet:79241"} xref: ICD10CM:D81.810 {source="DOID:856", source="MONDO:equivalentTo"} xref: ICD10CM:E53.8 {source="Orphanet:79241", source="Orphanet:79241/attributed", source="Orphanet:79241/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -184574,7 +187434,7 @@ id: MONDO:0009666 name: holocarboxylase synthetase deficiency def: "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." [Orphanet:79242] comment: May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 -subset: gard_rare {source="GARD:0002721"} +subset: gard_rare {source="GARD:2721"} subset: ordo_disease {source="Orphanet:79242"} synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [DOID:859] synonym: "early-onset multiple carboxylase deficiency" EXACT [Orphanet:79242] @@ -184587,6 +187447,7 @@ synonym: "multiple carboxylase deficiency, early onset" RELATED [OMIM:253270] synonym: "multiple carboxylase deficiency, neonatal form" RELATED [OMIM:253270] synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet:79242] xref: DOID:859 {source="MONDO:equivalentTo"} +xref: GARD:2721 {source="Orphanet:79242"} xref: ICD10CM:D81.818 {source="DOID:859"} xref: ICD10CM:E53.8 {source="Orphanet:79242/attributed", source="Orphanet:79242/ntbt", source="Orphanet:79242"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -184613,12 +187474,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2721/holocar id: MONDO:0009667 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 def: "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126740] +subset: gard_rare {source="GARD:15204"} synonym: "MDDGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:253280] synonym: "muscle-eye-brain-POMGNT1 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" EXACT [NCIT:C126740] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical, OMIM:253280] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [OMIM:253280] xref: DOID:0111236 {source="MONDO:equivalentTo"} +xref: GARD:15204 {source="OMIM:253280"} xref: NCIT:C126740 {source="MONDO:equivalentTo"} xref: OMIM:253280 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:253280"} @@ -184636,7 +187499,7 @@ property_value: confidence "0.5294117647058822" xsd:double id: MONDO:0009668 name: lethal multiple pterygium syndrome def: "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." [GARD:0003834] -subset: gard_rare +subset: gard_rare {source="GARD:3834"} subset: ordo_malformation_syndrome {source="Orphanet:33108"} synonym: "autosomal recessive lethal multiple pterygium syndrome" EXACT [Orphanet:33108] synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834] @@ -184645,6 +187508,7 @@ synonym: "multiple pterygium syndrome lethal type" RELATED [GARD:0003834] synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM:253290] synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834] synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290] +xref: GARD:3834 {source="Orphanet:33108"} xref: ICD10CM:Q79.8 {source="Orphanet:33108/attributed", source="Orphanet:33108/ntbt", source="Orphanet:33108"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537378 {source="Orphanet:33108", source="Orphanet:33108/e"} @@ -184663,6 +187527,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3834/multipl id: MONDO:0009669 name: spinal muscular atrophy, type 1 def: "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83330] +subset: gard_rare {source="GARD:7883"} subset: ordo_clinical_subtype {source="Orphanet:83330"} synonym: "hereditary motor neuropathy proximal type I" EXACT [DOID:13137] synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [DOID:13137] @@ -184688,6 +187553,7 @@ synonym: "Werdnig-Hoffman disease" EXACT [DOID:13137] synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330] xref: DOID:0060160 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:13137 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:7883 {source="Orphanet:83330"} xref: ICD10CM:G12.0 {source="Orphanet:83330", source="Orphanet:83330/e", source="DOID:0060160", source="DOID:13137", source="Orphanet:83330/specific"} xref: ICD9:335.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060160", source="DOID:13137"} xref: ICD9:335.11 {source="DOID:0060160"} @@ -184717,6 +187583,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009670 name: lethal congenital contracture syndrome 1 def: "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." [Orphanet:1486] +subset: gard_rare {source="GARD:3227"} subset: ordo_malformation_syndrome {source="Orphanet:1486"} synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Herva disease" EXACT [Orphanet:1486] @@ -184728,6 +187595,7 @@ synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXA synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310] synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486] xref: DOID:0060559 {source="MONDO:equivalentTo"} +xref: GARD:3227 {source="Orphanet:1486"} xref: ICD10CM:Q68.8 {source="Orphanet:1486", source="Orphanet:1486/attributed", source="Orphanet:1486/ntbt"} xref: MESH:C537194 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} xref: OMIM:253310 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} @@ -184749,12 +187617,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009671 name: intellectual disability-myopathy-short stature-endocrine defect syndrome def: "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." [Orphanet:3068] +subset: gard_rare {source="GARD:1358"} subset: ordo_disease {source="Orphanet:3068"} synonym: "Chudley Rozdilsky syndrome" RELATED [GARD:0001358] synonym: "Chudley syndrome" RELATED [OMIM:253320] synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068] synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320] synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [OMIM:253320] +xref: GARD:1358 {source="Orphanet:3068"} xref: ICD10CM:Q87.8 {source="Orphanet:3068", source="Orphanet:3068/attributed", source="Orphanet:3068/ntbt"} xref: MESH:C535458 {source="MONDO:equivalentTo"} xref: OMIM:253320 {source="Orphanet:3068", source="MONDO:equivalentTo", source="Orphanet:3068/e"} @@ -184771,7 +187641,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009672 name: spinal muscular atrophy, type III def: "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83419] -subset: gard_rare +subset: gard_rare {source="GARD:198"} subset: ordo_clinical_subtype {source="Orphanet:83419"} synonym: "childhood spinal muscular atrophy" BROAD [MONDO:design_pattern] synonym: "juvenile spinal muscular atrophy" BROAD [Orphanet:83419] @@ -184799,6 +187669,7 @@ synonym: "spinal muscular atrophy, type III, modifier of" EXACT [OMIM:253400, OM synonym: "spinal muscular atrophy-3" EXACT [OMIM:253400, OMIM:genemap2] synonym: "type III spinal muscular atrophy" EXACT [DOID:12376] xref: DOID:12376 {source="MONDO:equivalentTo"} +xref: GARD:198 {source="Orphanet:83419"} xref: ICD10CM:G12.1 {source="Orphanet:83419/ntbt", source="Orphanet:83419/inclusion", source="Orphanet:83419"} xref: ICD9:335.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12376"} xref: MESH:D014897 {source="DOID:12376"} @@ -184820,6 +187691,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009673 name: spinal muscular atrophy, type II def: "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83418] +subset: gard_rare {source="GARD:4945"} subset: ordo_clinical_subtype {source="Orphanet:83418"} synonym: "chronic infantile spinal muscular atrophy" EXACT [Orphanet:83418] synonym: "chronic spinal muscular atrophy" EXACT [Orphanet:83418] @@ -184841,6 +187713,7 @@ synonym: "spinal muscular atrophy, type 2" RELATED [OMIM:253550] synonym: "spinal muscular atrophy, type II" EXACT [OMIM:253550] synonym: "spinal muscular atrophy-2" EXACT [OMIM:253550, OMIM:genemap2] xref: DOID:0050530 {source="MONDO:equivalentTo"} +xref: GARD:4945 {source="Orphanet:83418"} xref: ICD10CM:G12.1 {source="Orphanet:83418/inclusion", source="Orphanet:83418/ntbt", source="Orphanet:83418"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536879 {source="MONDO:equivalentTo"} @@ -184869,6 +187742,7 @@ is_a: MONDO:0003847 {source="MESH:C565361/inferred"} ! hereditary disease id: MONDO:0009675 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." [Orphanet:267] +subset: gard_rare {source="GARD:1057"} subset: ordo_disease {source="Orphanet:267"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2A" EXACT CLINGEN_PREFERRED [] @@ -184889,6 +187763,7 @@ synonym: "myositis, eosinophilic" RELATED [OMIM:253600] synonym: "pelvofemoral muscular dystrophy" EXACT [DOID:0110275] synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267] xref: DOID:0110275 {source="MONDO:equivalentTo"} +xref: GARD:1057 {source="Orphanet:267"} xref: ICD10CM:G71.0 {source="Orphanet:267/attributed", source="Orphanet:267/ntbt", source="DOID:0110275", source="Orphanet:267"} xref: MESH:C535895 {source="MONDO:equivalentTo"} xref: NCIT:C142079 {source="MONDO:equivalentTo"} @@ -184909,6 +187784,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009676 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." [Orphanet:268] +subset: gard_rare {source="GARD:8574"} subset: ordo_disease {source="Orphanet:268"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern] synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -184922,6 +187798,7 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 2" EXACT [OMIM:25 synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM:253601] synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601] xref: DOID:0110276 {source="MONDO:equivalentTo"} +xref: GARD:8574 {source="Orphanet:268"} xref: ICD10CM:G71.0 {source="Orphanet:268", source="Orphanet:268/ntbt", source="Orphanet:268/inclusion", source="DOID:0110276"} xref: MESH:C535899 {source="MONDO:equivalentTo"} xref: NCIT:C142080 {source="MONDO:equivalentTo"} @@ -184942,6 +187819,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009677 name: autosomal recessive limb-girdle muscular dystrophy type 2C def: "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." [Orphanet:353] +subset: gard_rare {source="GARD:2429"} subset: ordo_disease {source="Orphanet:353"} synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700] synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277] @@ -184966,6 +187844,7 @@ synonym: "severe childhood autosomal recessive muscular dystrophy North African synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700] synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110277 {source="MONDO:equivalentTo"} +xref: GARD:2429 {source="Orphanet:353"} xref: ICD10CM:G71.0 {source="Orphanet:353/ntbt", source="Orphanet:353/inclusion", source="DOID:0110277", source="Orphanet:353"} xref: MESH:C535900 {source="MONDO:equivalentTo"} xref: OMIM:253700 {source="Orphanet:353/e", source="MONDO:equivalentTo", source="DOID:0110277", source="Orphanet:353"} @@ -184984,6 +187863,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009678 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 def: "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." [Orphanet:272] +subset: gard_rare {source="GARD:15205", source="GARD:6475"} subset: ordo_disease {source="Orphanet:272"} synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [Orphanet:272] synonym: "FCMD" EXACT ABBREVIATION [Orphanet:272] @@ -184994,6 +187874,8 @@ synonym: "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye a synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" EXACT [OMIM:253800] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [OMIM:253800] xref: DOID:0050559 {source="MONDO:equivalentTo"} +xref: GARD:15205 {source="OMIM:253800"} +xref: GARD:6475 {source="Orphanet:272"} xref: ICD10CM:G71.0 {source="Orphanet:272", source="Orphanet:272/attributed", source="Orphanet:272/ntbt"} xref: NCIT:C126741 {source="MONDO:equivalentTo"} xref: OMIM:253800 {source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272", source="Orphanet:272/ntbt"} @@ -185014,7 +187896,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009679 name: arthrogryposis due to muscular dystrophy -subset: gard_rare {source="GARD:0000779"} subset: ordo_disease {source="Orphanet:1155"} synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:0110631] synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900] @@ -185033,13 +187914,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/779/arthrogr id: MONDO:0009680 name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome def: "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." [Orphanet:1875] -subset: gard_rare +subset: gard_rare {source="GARD:835"} subset: ordo_disease {source="Orphanet:1875"} synonym: "Bassoe syndrome" EXACT [Orphanet:1875] synonym: "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract" RELATED [GARD:0000835] synonym: "familial congenital muscular dystrophy with gonadal dysgenesis" RELATED [GARD:0003842] synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadism" RELATED [GARD:0003842] synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000] +xref: GARD:835 {source="Orphanet:1875"} xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="Orphanet:1875/e"} xref: Orphanet:1875 {source="MONDO:equivalentTo", source="OMIM:254000"} xref: UMLS:C1850864 {source="MONDO:equivalentTo", source="Orphanet:1875", source="MONDO:ncbi_mim2gene_medline", source="OMIM:254000", source="Orphanet:1875/e"} @@ -185080,6 +187962,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009683 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." [Orphanet:1878] +subset: gard_rare {source="GARD:3844"} subset: ordo_disease {source="Orphanet:1878"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2H" EXACT CLINGEN_PREFERRED [] @@ -185095,6 +187978,7 @@ synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878] synonym: "sarcotubular myopathy" EXACT [DOID:0110282] synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110282 {source="MONDO:equivalentTo"} +xref: GARD:3844 {source="Orphanet:1878"} xref: ICD10CM:G71.0 {source="DOID:0110282", source="Orphanet:1878/inclusion", source="Orphanet:1878/ntbt", source="Orphanet:1878"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535897 {source="MONDO:equivalentTo"} @@ -185123,7 +188007,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009685 name: Miyoshi myopathy def: "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." [Orphanet:45448] -subset: gard_rare {source="GARD:0009676"} +subset: gard_rare {source="GARD:9676"} subset: ordo_disease {source="Orphanet:45448"} subset: prototype_pattern synonym: "Miyoshi distal myopathy" EXACT [GARD:0009676] @@ -185134,6 +188018,7 @@ synonym: "MM" EXACT ABBREVIATION [GARD:0009676] synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:254130] synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676] xref: DOID:0070198 {source="MONDO:equivalentTo"} +xref: GARD:9676 {source="Orphanet:45448"} xref: ICD10CM:G71.0 {source="Orphanet:45448", source="Orphanet:45448/attributed", source="Orphanet:45448/ntbt"} xref: MESH:C537480 {source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo", source="Orphanet:45448/e"} xref: NCIT:C118846 {source="MONDO:equivalentTo"} @@ -185171,7 +188056,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009688 name: myasthenia gravis def: "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." [Orphanet:589] -subset: gard_rare {source="GARD:0007122"} +subset: gard_rare {source="GARD:7122"} subset: ordo_disease {source="Orphanet:589"} synonym: "acquired myasthenia" EXACT [Orphanet:589] synonym: "autoimmune myasthenia gravis" EXACT [Orphanet:589] @@ -185179,6 +188064,7 @@ synonym: "MG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254200] synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200] xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"} xref: EFO:0004991 {source="MONDO:equivalentTo"} +xref: GARD:7122 {source="Orphanet:589"} xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: ICD10CM:G70.00 {source="DOID:437"} xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -185203,7 +188089,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7122/myasthe id: MONDO:0009689 name: congenital myasthenic syndrome 6 def: "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." [NCIT:C132292] -subset: gard_rare +subset: gard_rare {source="GARD:9689"} synonym: "CHAT congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS Ia2" EXACT [DOID:0110671] synonym: "Cms Ia2" RELATED [OMIM:254210] @@ -185245,6 +188131,7 @@ synonym: "myasthenic syndrome, congenital, associated with episodic apnea" RELAT synonym: "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759, OMIM:254210] synonym: "presynaptic congenital myasthenic syndrome 6" EXACT [NCIT:C132292] xref: DOID:0110671 {source="MONDO:equivalentTo"} +xref: GARD:9689 {source="OMIM:254210"} xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535759 {source="MONDO:equivalentTo"} xref: NCIT:C132292 {source="MONDO:equivalentTo"} @@ -185267,7 +188154,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9689/congeni id: MONDO:0009690 name: congenital myasthenic syndrome 10 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0003855"} +subset: gard_rare {source="GARD:15206"} synonym: "CMS Ib" RELATED [DOID:0110668] synonym: "Cms Ib" RELATED [OMIM:254300] synonym: "Cms Ib, formerly" RELATED [OMIM:254300] @@ -185291,6 +188178,7 @@ synonym: "myasthenic syndrome, congenital, 10" RELATED [MONDO:Lexical, OMIM:2543 synonym: "myasthenic syndrome, congenital, type 10" EXACT [MONDORULE:2, OMIM:254300] xref: DOID:0110638 {source="MONDO:equivalentObsolete"} xref: DOID:0110668 {source="MONDO:equivalentTo"} +xref: GARD:15206 {source="OMIM:254300"} xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563716 {source="MONDO:equivalentTo"} xref: OMIM:254300 {source="DOID:0110668", source="MONDO:equivalentTo"} @@ -185315,7 +188203,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3855/muscula id: MONDO:0009691 name: mycosis fungoides def: "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." [Orphanet:2584] -subset: gard_rare {source="GARD:0003863"} +subset: gard_rare {source="GARD:3863"} subset: ordo_disease {source="Orphanet:2584"} synonym: "Alibert-Bazin syndrome" RELATED [GARD:0003863] synonym: "classic mycosis fungoides" RELATED [Orphanet:2584] @@ -185332,6 +188220,7 @@ synonym: "mycosis fungoides, Alibert-Bazin type" EXACT [Orphanet:2584] synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [DOID:8691] xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"} xref: EFO:1001051 {source="MONDO:equivalentTo"} +xref: GARD:3863 {source="Orphanet:2584"} xref: ICD10CM:C84.0 {source="Orphanet:2584", source="Orphanet:2584/ntbt", source="MONDO:equivalentTo", source="DOID:8691"} xref: ICD10CM:C84.00 {source="DOID:8691"} xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"} @@ -185358,6 +188247,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3863/mycosis id: MONDO:0009692 name: primary myelofibrosis def: "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." [Orphanet:824] +subset: gard_rare {source="GARD:8618"} subset: ordo_disease {source="Orphanet:824"} synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, Orphanet:824] synonym: "aleukemic myelosis" EXACT [DOID:4971] @@ -185379,6 +188269,7 @@ synonym: "osteomyelofibrosis" EXACT [Orphanet:824] synonym: "primary myelofibrosis" EXACT [DOID:4971] xref: DOID:4971 {source="MONDO:equivalentTo"} xref: EFO:0002430 {source="MONDO:equivalentTo"} +xref: GARD:8618 {source="Orphanet:824"} xref: ICD10CM:D47.4 {source="DOID:4971", source="Orphanet:824", source="Orphanet:824/ntbt"} xref: ICD10CM:D75.81 {source="DOID:4971"} xref: ICD9:238.76 {source="DOID:4971"} @@ -185411,6 +188302,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009693 name: plasma cell myeloma def: "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" [NCIT:C3242] +subset: gard_rare {source="GARD:7108"} subset: ordo_disease {source="Orphanet:29073"} synonym: "Al amyloidosis" RELATED [OMIM:254500] synonym: "amyloidosis, systemic" RELATED [OMIM:254500] @@ -185432,6 +188324,7 @@ synonym: "plasma cell myeloid neoplasm" EXACT [MONDO:patterns/location] synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073] xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"} xref: EFO:0001378 {source="DOID:9538", source="MONDO:equivalentTo"} +xref: GARD:7108 {source="Orphanet:29073"} xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ICD10CM:C90.00 {source="DOID:9538"} xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"} @@ -185463,11 +188356,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009694 name: myeloperoxidase deficiency -subset: gard_rare {source="GARD:0003868"} +subset: gard_rare {source="GARD:3868"} subset: ordo_disease {source="Orphanet:2587"} synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587] synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600] synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600] +xref: GARD:3868 {source="Orphanet:2587"} xref: ICD10CM:E80.3 {source="Orphanet:2587/attributed", source="Orphanet:2587/ntbt", source="Orphanet:2587"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562864 {source="MONDO:equivalentTo"} @@ -185494,7 +188388,7 @@ is_a: MONDO:0020076 {source="MONDO:cjm"} ! myeloproliferative neoplasm id: MONDO:0009696 name: juvenile myoclonic epilepsy def: "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." [Orphanet:307] -subset: gard_rare {source="GARD:0006808"} +subset: gard_rare {source="GARD:6808"} subset: ordo_disease {source="Orphanet:307"} subset: predisposition synonym: "EJM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254770] @@ -185508,6 +188402,7 @@ synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" NARROW [OMIM:25477 synonym: "petit mal, impulsive" NARROW [OMIM:254770] xref: DOID:4890 {source="MONDO:equivalentTo"} xref: EFO:0006572 {source="MONDO:equivalentTo"} +xref: GARD:6808 {source="Orphanet:307"} xref: ICD10CM:G40.3 {source="Orphanet:307", source="Orphanet:307/attributed", source="Orphanet:307/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071082 {source="Orphanet:307", source="Orphanet:307/e"} @@ -185535,7 +188430,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6808/juvenil id: MONDO:0009697 name: Lafora disease def: "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." [Orphanet:501] -subset: gard_rare {source="GARD:0008214"} +subset: gard_rare {source="GARD:8214"} subset: ordo_disease {source="Orphanet:501"} synonym: "epilepsy progressive myoclonic 2" RELATED [GARD:0008214] synonym: "epilepsy, progressive myoclonic 2A (Lafora)" EXACT [OMIM:254780, OMIM:genemap2] @@ -185555,6 +188450,7 @@ synonym: "PME type 2" EXACT [Orphanet:501] synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501] synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501] xref: DOID:3534 {source="MONDO:equivalentTo"} +xref: GARD:8214 {source="Orphanet:501"} xref: ICD10CM:G40.3 {source="Orphanet:501/attributed", source="Orphanet:501/ntbt", source="Orphanet:501"} xref: MedDRA:10054030 {source="Orphanet:501", source="Orphanet:501/e"} xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"} @@ -185577,6 +188473,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8214/lafora- id: MONDO:0009698 name: Unverricht-Lundborg syndrome def: "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." [Orphanet:308] +subset: gard_rare {source="GARD:3876"} subset: ordo_malformation_syndrome {source="Orphanet:308"} synonym: "Baltic myoclonic epilepsy" RELATED [OMIM:254800] synonym: "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" EXACT [OMIM:254800, OMIM:genemap2] @@ -185600,6 +188497,7 @@ synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535] synonym: "Unverricht-Lundborg syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0111452 {source="MONDO:equivalentTo"} xref: DOID:3535 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:3876 {source="Orphanet:308"} xref: ICD10CM:G40.3 {source="Orphanet:308", source="Orphanet:308/attributed", source="Orphanet:308/ntbt"} xref: MedDRA:10054895 {source="Orphanet:308", source="Orphanet:308/e"} xref: MESH:D020194 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"} @@ -185622,6 +188520,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009699 name: action myoclonus-renal failure syndrome def: "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." [Orphanet:163696] +subset: gard_rare {source="GARD:17000"} subset: ordo_disease {source="Orphanet:163696"} synonym: "action myoclonus-renal failure syndrome" EXACT [OMIM:254900] synonym: "AMRF" EXACT ABBREVIATION [Orphanet:163696] @@ -185631,6 +188530,7 @@ synonym: "EPM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254900, Orphanet:163696] synonym: "myoclonus-nephropathy syndrome" EXACT [OMIM:254900, Orphanet:163696] synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696] xref: DOID:0111444 {source="MONDO:equivalentTo"} +xref: GARD:17000 {source="Orphanet:163696"} xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="Orphanet:163696/e"} xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"} xref: SCTID:764453009 {source="MONDO:equivalentTo"} @@ -185686,6 +188586,7 @@ property_value: confidence "50.99999999999993" xsd:double id: MONDO:0009704 name: carnitine palmitoyl transferase II deficiency, myopathic form def: "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." [Orphanet:228302] +subset: gard_rare {source="GARD:17149"} subset: ordo_clinical_subtype {source="Orphanet:228302"} synonym: "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" EXACT [Orphanet:228302] synonym: "Carnitine palmitoyl transferase deficiency type 2, myopathic form" EXACT [Orphanet:228302] @@ -185703,6 +188604,7 @@ synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302] synonym: "CPT2, myopathic form" EXACT [Orphanet:228302] synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302] synonym: "CPTII, myopathic form" EXACT [Orphanet:228302] +xref: GARD:17149 {source="Orphanet:228302"} xref: ICD10CM:E71.3 {source="Orphanet:228302/attributed", source="Orphanet:228302/ntbt", source="Orphanet:228302"} xref: MESH:C563461 {source="MONDO:equivalentTo"} xref: OMIM:255110 {source="Orphanet:228302/e", source="MONDO:equivalentTo", source="Orphanet:228302"} @@ -185720,7 +188622,7 @@ name: carnitine palmitoyl transferase 1A deficiency def: "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." [Orphanet:156] comment: Editor note: consider adding sibling for CPT-1B subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:1120"} subset: ordo_disease {source="Orphanet:156"} synonym: "Carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120] synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT CLINGEN_PREFERRED [DOID:0090129] @@ -185746,6 +188648,7 @@ synonym: "L-CPT 1 deficiency" RELATED [GARD:0001120] synonym: "L-CPT1 deficiency" EXACT [DOID:0090129, GARD:0001120, Orphanet:156] synonym: "L-CPTI deficiency" EXACT [GARD:0001120, Orphanet:156] xref: DOID:0090129 {source="MONDO:equivalentTo"} +xref: GARD:1120 {source="Orphanet:156"} xref: HGNC:2328 {source="GARD:0001120"} xref: ICD10CM:E71.3 {source="Orphanet:156/ntbt", source="Orphanet:156/inclusion", source="DOID:0090129", source="Orphanet:156"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -185768,6 +188671,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1120/carniti id: MONDO:0009706 name: hereditary myopathy with lactic acidosis due to ISCU deficiency def: "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." [Orphanet:43115] +subset: gard_rare {source="GARD:16643"} subset: ordo_disease {source="Orphanet:43115"} synonym: "aconitase deficiency" EXACT [Orphanet:43115] synonym: "HML" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255125] @@ -185777,6 +188681,7 @@ synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125] synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125] synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115] synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125] +xref: GARD:16643 {source="Orphanet:43115"} xref: ICD10CM:G71.3 {source="Orphanet:43115/attributed", source="Orphanet:43115/ntbt", source="Orphanet:43115"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564972 {source="MONDO:equivalentTo"} @@ -185801,11 +188706,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009708 name: myopathy, myosin storage, autosomal recessive +subset: gard_rare {source="GARD:15207"} synonym: "autosomal recessive myosin storage myopathy" EXACT [Orphanet:636970] synonym: "MSMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255160] synonym: "myopathy, hyaline body, autosomal recessive" RELATED [OMIM:255160] synonym: "myopathy, myosin storage, autosomal recessive" EXACT [MONDO:Lexical, OMIM:255160] xref: DOID:0111268 {source="MONDO:equivalentTo"} +xref: GARD:15207 {source="OMIM:255160"} xref: MESH:C564970 {source="MONDO:equivalentTo"} xref: OMIM:255160 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="OMIM:255160"} @@ -185819,6 +188726,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009709 name: myopathy, centronuclear, 2 def: "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15208"} synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "centronuclear myopathy 2" EXACT [OMIM:255200, OMIM:genemap2] synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern] @@ -185828,6 +188736,7 @@ synonym: "myopathy, centronuclear, autosomal recessive" RELATED [OMIM:255200] synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1, OMIM:255200] synonym: "myotubular myopathy, autosomal recessive" RELATED [OMIM:255200] xref: DOID:0111220 {source="MONDO:equivalentTo"} +xref: GARD:15208 {source="OMIM:255200"} xref: MESH:C562934 {source="MONDO:equivalentTo"} xref: OMIM:255200 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="OMIM:255200"} @@ -185844,11 +188753,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009710 name: Thomsen and Becker disease def: "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)." [Orphanet:614] +subset: gard_rare {source="GARD:12301"} subset: ordo_disease {source="Orphanet:614"} synonym: "Batten-Turner congenital myopathy" RELATED [OMIM:255300] synonym: "myopathy, congenital" RELATED [OMIM:255300] synonym: "myotonia congenita" EXACT [Orphanet:614] xref: DOID:2106 {source="MONDO:equivalentTo"} +xref: GARD:12301 {source="Orphanet:614"} xref: ICD10CM:G71.1 {source="Orphanet:614/ntbt", source="Orphanet:614/inclusion", source="Orphanet:614"} xref: ICD10CM:G71.12 {source="MONDO:equivalentTo"} xref: ICD9:359.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2106"} @@ -185870,6 +188781,7 @@ property_value: confidence "0.6249999999999998" xsd:double id: MONDO:0009711 name: congenital fiber-type disproportion myopathy def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046] +subset: gard_rare {source="GARD:6161"} subset: ordo_disease {source="Orphanet:2020"} synonym: "CFTDM" EXACT ABBREVIATION [Orphanet:2020] synonym: "congenital fiber type disproportion" RELATED [GARD:0006161] @@ -185879,6 +188791,7 @@ synonym: "congenital myopathy with fiber type disproportion" EXACT [https://orci synonym: "congenital myopathy with fibre type disproportion" EXACT OMO:0003005 [] synonym: "myopathy, congenital with fiber-type disproportion" RELATED [GARD:0006161] xref: DOID:0080102 {source="MONDO:equivalentTo"} +xref: GARD:6161 {source="Orphanet:2020"} xref: ICD10CM:G71.2 {source="Orphanet:2020/ntbt", source="Orphanet:2020/inclusion", source="Orphanet:2020"} xref: NCIT:C120046 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="MONDO:equivalentTo", source="OMIM:255310"} @@ -185903,6 +188816,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009712 name: congenital multicore myopathy with external ophthalmoplegia def: "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." [NCIT:C150608] +subset: gard_rare {source="GARD:10316"} subset: ordo_clinical_subtype {source="Orphanet:98905"} synonym: "minicore myopathy" RELATED [OMIM:255320] synonym: "minicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] @@ -185911,6 +188825,7 @@ synonym: "multicore myopathy" RELATED [OMIM:255320] synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:0010316] synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320] synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] +xref: GARD:10316 {source="Orphanet:98905"} xref: ICD10CM:G71.2 {source="Orphanet:98905", source="Orphanet:98905/attributed", source="Orphanet:98905/ntbt"} xref: NCIT:C150608 {source="MONDO:equivalentTo"} xref: OMIM:255320 {source="Orphanet:98905/e", source="MONDO:equivalentTo", source="Orphanet:98905"} @@ -185940,6 +188855,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009714 name: myosclerosis def: "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." [Orphanet:289380] +subset: gard_rare {source="GARD:17325"} subset: ordo_disease {source="Orphanet:289380"} synonym: "congenital myosclerosis, LC6wenthal type" EXACT [Orphanet:289380] synonym: "congenital myosclerosis, Löwenthal type" EXACT [Orphanet:289380] @@ -185947,6 +188863,7 @@ synonym: "myopathy, myosclerotic" RELATED [OMIM:255600] synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600] synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2] synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600] +xref: GARD:17325 {source="Orphanet:289380"} xref: ICD10CM:G71.8 {source="Orphanet:289380/attributed", source="Orphanet:289380/ntbt", source="Orphanet:289380"} xref: MedDRA:10064584 {source="Orphanet:289380/e", source="Orphanet:289380"} xref: MESH:C564968 {source="MONDO:equivalentTo"} @@ -185964,12 +188881,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009715 name: myotonia congenita, autosomal recessive def: "Autosomal recessive form of myotonia congenita." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:844"} synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern] synonym: "Becker disease" RELATED [OMIM:255700] synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700] synonym: "myotonia congenita, recessive" EXACT [OMIM:255700, OMIM:genemap2] synonym: "myotonia, generalised" RELATED OMO:0003005 [] synonym: "myotonia, generalized" RELATED [OMIM:255700] +xref: GARD:844 {source="OMIM:255700"} xref: OMIM:255700 {source="MONDO:equivalentTo"} xref: Orphanet:614 {source="OMIM:255700"} xref: UMLS:C0751360 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255700"} @@ -185983,12 +188902,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009716 name: Richieri Costa-da Silva syndrome -subset: gard_rare {source="GARD:0004709"} +subset: gard_rare {source="GARD:4709"} subset: ordo_malformation_syndrome {source="Orphanet:3101"} synonym: "myotonia with skeletal abnormalities and intellectual disability" RELATED [OMIM:255710] synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED DEPRECATED [OMIM:255710] synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101] synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709] +xref: GARD:4709 {source="Orphanet:3101"} xref: ICD10CM:Q87.8 {source="Orphanet:3101", source="Orphanet:3101/attributed", source="Orphanet:3101/ntbt"} xref: MESH:C535675 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} xref: OMIM:255710 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} @@ -186004,6 +188924,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4709/richier id: MONDO:0009717 name: Schwartz-Jampel syndrome def: "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." [Orphanet:800] +subset: gard_rare {source="GARD:250"} subset: ordo_disease {source="Orphanet:800"} subset: prototype_pattern synonym: "Aberfeld syndrome" EXACT [Orphanet:800] @@ -186023,6 +188944,7 @@ synonym: "Schwartz Jampel syndrome" RELATED [GARD:0000250] synonym: "Schwartz-Jampel syndrome" EXACT CLINGEN_PREFERRED [Orphanet:800] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800] synonym: "SJS" EXACT ABBREVIATION [Orphanet:800] +xref: GARD:250 {source="Orphanet:800"} xref: ICD10CM:G71.1 {source="Orphanet:800/attributed", source="Orphanet:800/ntbt", source="Orphanet:800", source="DOID:0090005"} xref: ICD10CM:Q78.8 {source="Orphanet:800/ntbt", source="Orphanet:800", source="Orphanet:800/index"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -186061,11 +188983,12 @@ is_a: MONDO:0005420 {source="DOID:11634", source="EFO:1001055", source="MESH:D00 [Term] id: MONDO:0009719 name: familial atrial myxoma -subset: gard_rare {source="GARD:0000139"} +subset: gard_rare {source="GARD:139"} subset: ordo_disease {source="Orphanet:615"} synonym: "atrial Myxoma, familial" RELATED [OMIM:255960] synonym: "intracardiac myxoma" RELATED [GARD:0000139] synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960] +xref: GARD:139 {source="Orphanet:615"} xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"} xref: MESH:C538262 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: OMIM:255960 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} @@ -186085,6 +189008,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/139/atrial-m id: MONDO:0009720 name: Keipert syndrome def: "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662] +subset: gard_rare {source="GARD:267"} subset: ordo_malformation_syndrome {source="Orphanet:2662"} synonym: "Keipert syndrome" EXACT [OMIM:255980, OMIM:301026] synonym: "Keipert syndrome, X-linked recessive" EXACT [OMIM:301026, OMIM:genemap2] @@ -186092,6 +189016,7 @@ synonym: "KPTS" EXACT ABBREVIATION [OMIM:301026] synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662] synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] xref: DOID:0111842 {source="MONDO:equivalentTo"} +xref: GARD:267 {source="Orphanet:2662"} xref: ICD10CM:Q87.0 {source="Orphanet:2662/attributed", source="Orphanet:2662/ntbt", source="Orphanet:2662"} xref: MESH:C538337 {source="MONDO:equivalentTo"} xref: NCIT:C186306 {source="MONDO:equivalentTo"} @@ -186111,13 +189036,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009721 name: Nathalie syndrome def: "Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." [Orphanet:2663] -subset: gard_rare {source="GARD:0003929"} +subset: gard_rare {source="GARD:3929"} subset: ordo_malformation_syndrome {source="Orphanet:2663"} synonym: "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" RELATED [GARD:0003929] synonym: "deafness-cataract-skeletal anomalies syndrome" EXACT [Orphanet:2663] synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663] synonym: "Nathalie syndrome" EXACT [OMIM:255990] synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663] +xref: GARD:3929 {source="Orphanet:2663"} xref: ICD10CM:Q87.8 {source="Orphanet:2663", source="Orphanet:2663/attributed", source="Orphanet:2663/ntbt"} xref: MESH:C538342 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} xref: OMIM:255990 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} @@ -186132,6 +189058,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3929/nathali id: MONDO:0009722 name: Bailey-Bloch congenital myopathy def: "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." [Orphanet:168572] +subset: gard_rare {source="GARD:8432"} subset: ordo_malformation_syndrome {source="Orphanet:168572"} synonym: "Bailey-Bloch congenital myopathy" EXACT CLINGEN_PREFERRED [] synonym: "congenital myopathy - cleft palate - malignant hyperthermia" RELATED [GARD:0008432] @@ -186143,6 +189070,7 @@ synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical, OMIM:255995] synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995] synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/] xref: DOID:0060346 {source="MONDO:equivalentTo"} +xref: GARD:8432 {source="Orphanet:168572"} xref: ICD10CM:G71.2 {source="Orphanet:168572/attributed", source="Orphanet:168572/ntbt", source="Orphanet:168572"} xref: MESH:C538343 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} xref: OMIM:255995 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} @@ -186163,6 +189091,7 @@ id: MONDO:0009723 name: Leigh syndrome def: "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." [Orphanet:506] subset: disease_grouping +subset: gard_rare {source="GARD:6877"} subset: ordo_group_of_disorders {source="Orphanet:506"} synonym: "infantile necrotizing encephalomyelopathy" EXACT [DOID:3652] synonym: "infantile subacute necrotizing encephalopathy" EXACT [Orphanet:506] @@ -186184,6 +189113,7 @@ synonym: "SNE" RELATED ABBREVIATION [GARD:0006877] synonym: "subacute necrotizing encephalomyelopathy" RELATED [DOID:3652] synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877] xref: DOID:3652 {source="MONDO:equivalentTo"} +xref: GARD:6877 {source="Orphanet:506"} xref: ICD10CM:G31.8 {source="Orphanet:506/inclusion", source="Orphanet:506", source="Orphanet:506/ntbt"} xref: ICD10CM:G31.82 {source="DOID:3652"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -186215,12 +189145,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009724 name: nail-patella-like renal disease def: "A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:2613] +subset: gard_rare {source="GARD:321"} subset: ordo_disease {source="Orphanet:2613"} synonym: "focal segmental glomerulosclerosis 10" EXACT [OMIM:256020, OMIM:genemap2] synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [OMIM:256020] synonym: "nail patella like renal disease" RELATED [GARD:0000321] synonym: "nail-patella-like renal disease" EXACT [OMIM:256020] synonym: "Salcedo syndrome" EXACT [Orphanet:2613] +xref: GARD:321 {source="Orphanet:2613"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537228 {source="MONDO:equivalentTo"} xref: OMIM:256020 {source="MONDO:equivalentTo", source="Orphanet:2613", source="Orphanet:2613/e"} @@ -186235,6 +189167,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009725 name: nemaline myopathy 2 def: "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." [NCIT:C118784] +subset: gard_rare {source="GARD:15209"} synonym: "NEB nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM2" EXACT ABBREVIATION [DOID:0110928, MONDO:Lexical, OMIM:256030] synonym: "nemaline myopathy 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:256030] @@ -186242,6 +189175,7 @@ synonym: "nemaline myopathy 2, autosomal recessive" EXACT [DOID:0110928] synonym: "nemaline myopathy caused by mutation in NEB" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 2" EXACT [DOID:0110928, MONDORULE:1, OMIM:256030] xref: DOID:0110928 {source="MONDO:equivalentTo"} +xref: GARD:15209 {source="OMIM:256030"} xref: MESH:C538349 {source="MONDO:equivalentTo"} xref: NCIT:C118784 {source="MONDO:equivalentTo"} xref: OMIM:256030 {source="MONDO:equivalentTo", source="DOID:0110928"} @@ -186262,7 +189196,7 @@ property_value: confidence "1.022727272727273" xsd:double [Term] id: MONDO:0009726 name: proteosome-associated autoinflammatory syndrome -subset: gard_rare {source="GARD:0010988"} +subset: gard_rare {source="GARD:13824"} subset: ordo_clinical_subtype {source="Orphanet:325004", source="Orphanet:324999", source="Orphanet:2615"} subset: ordo_disease {source="Orphanet:324977"} synonym: "ALDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256040] @@ -186291,6 +189225,7 @@ synonym: "proteasome disability syndrome" EXACT [Orphanet:324977] synonym: "proteasome-associated autoinflammatory syndrome" EXACT [Orphanet:324977] synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [Orphanet:2615] xref: DOID:0050553 {source="MONDO:equivalentTo"} +xref: GARD:13824 {source="Orphanet:324977"} xref: ICD10CM:L98.8 {source="Orphanet:2615/attributed", source="Orphanet:2615/ntbt", source="Orphanet:2615"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538334 {source="MONDO:equivalentTo"} @@ -186322,6 +189257,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10988/jmp-sy id: MONDO:0009727 name: atelosteogenesis type II def: "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." [https://orcid.org/0000-0001-5208-3432, Orphanet:56304] +subset: gard_rare {source="GARD:8329"} subset: ordo_malformation_syndrome {source="Orphanet:56304"} synonym: "AO2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256050, Orphanet:56304] synonym: "AOII" EXACT ABBREVIATION [OMIM:256050, Orphanet:56304] @@ -186334,6 +189270,7 @@ synonym: "De 50A Chapelle dysplasia" RELATED [OMIM:256050] synonym: "De la Chapelle dysplasia" RELATED [Orphanet:56304] synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050] synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304] +xref: GARD:8329 {source="Orphanet:56304"} xref: ICD10CM:Q77.5 {source="Orphanet:56304/attributed", source="Orphanet:56304/ntbt", source="Orphanet:56304", source="MONDO:directSiblingOf"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"} @@ -186357,6 +189294,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009728 name: nephronophthisis 1 def: "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." [NCIT:C74998] +subset: gard_rare {source="GARD:18645"} subset: ordo_clinical_subtype {source="Orphanet:93592"} synonym: "familial juvenile nephronophthisis" EXACT [NCIT:C74998] synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998] @@ -186371,6 +189309,7 @@ synonym: "Nph1" RELATED [OMIM:256100] synonym: "NPHP1" EXACT ABBREVIATION [DOID:0111112, MONDO:Lexical, OMIM:256100] synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111112 {source="MONDO:equivalentTo"} +xref: GARD:18645 {source="Orphanet:93592"} xref: ICD10CM:Q61.5 {source="Orphanet:93592", source="Orphanet:93592/attributed", source="Orphanet:93592/ntbt"} xref: MESH:C537699 {source="MONDO:equivalentTo"} xref: NCIT:C74998 {source="MONDO:equivalentTo"} @@ -186394,12 +189333,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009729 name: nephropathy - deafness - hyperparathyroidism syndrome def: "Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." [Orphanet:2668] -subset: gard_rare +subset: gard_rare {source="GARD:3940"} subset: ordo_malformation_syndrome {source="Orphanet:2668"} synonym: "Edwards Patton Dilly syndrome" RELATED [GARD:0003940] synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668] synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940] synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120] +xref: GARD:3940 {source="Orphanet:2668"} xref: ICD10CM:Q87.8 {source="Orphanet:2668", source="Orphanet:2668/attributed", source="Orphanet:2668/ntbt"} xref: MESH:C536401 {source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} @@ -186421,10 +189361,12 @@ replaced_by: MONDO:0009738 id: MONDO:0009731 name: nephrosis-deafness-urinary tract-digital malformations syndrome def: "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." [Orphanet:2669] +subset: gard_rare {source="GARD:3943"} subset: ordo_malformation_syndrome {source="Orphanet:2669"} synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669] synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943] synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200] +xref: GARD:3943 {source="Orphanet:2669"} xref: ICD10CM:Q87.8 {source="Orphanet:2669", source="Orphanet:2669/attributed", source="Orphanet:2669/ntbt"} xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} @@ -186440,7 +189382,7 @@ id: MONDO:0009732 name: congenital nephrotic syndrome, Finnish type def: "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." [Orphanet:839] subset: clingen -subset: gard_rare {source="GARD:0001500"} +subset: gard_rare {source="GARD:1500"} subset: ordo_disease {source="Orphanet:839"} synonym: "CnF" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome - Finnish type" EXACT [NCIT:C122795] @@ -186455,6 +189397,7 @@ synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300] synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300] synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256300] xref: DOID:0080390 {source="MONDO:equivalentTo"} +xref: GARD:1500 {source="Orphanet:839"} xref: ICD10CM:N04.8 {source="Orphanet:839/attributed", source="Orphanet:839/ntbt", source="Orphanet:839"} xref: MedDRA:10060740 {source="Orphanet:839/e", source="Orphanet:839"} xref: MESH:C535761 {source="Orphanet:839/e", source="Orphanet:839"} @@ -186476,6 +189419,7 @@ id: MONDO:0009733 name: nephrotic syndrome, type 4 def: "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." [NCIT:C121198] subset: clingen +subset: gard_rare {source="GARD:15210"} synonym: "congenital nephrotic syndrome - diffuse mesangial sclerosis" EXACT [NCIT:C121198] synonym: "diffuse isolated mesangial sclerosis" RELATED [GARD:0003547] synonym: "diffuse mesangial sclerosis" RELATED [GARD:0003547] @@ -186489,6 +189433,7 @@ synonym: "nephrotic syndrome, type 4" EXACT [MONDO:Lexical, OMIM:256370] synonym: "NPHS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256370] synonym: "WT1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080383 {source="MONDO:equivalentTo"} +xref: GARD:15210 {source="OMIM:256370"} xref: NCIT:C121198 {source="MONDO:equivalentTo"} xref: OMIM:256370 {source="MONDO:equivalentTo"} xref: UMLS:C0268747 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -186534,7 +189479,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009735 name: Netherton syndrome def: "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." [Orphanet:634] -subset: gard_rare {source="GARD:0007182"} +subset: gard_rare {source="GARD:7182"} subset: ordo_disease {source="Orphanet:634"} synonym: "bamboo hair syndrome" EXACT [Orphanet:634] synonym: "Comel-Netherton syndrome" RELATED [OMIM:256500] @@ -186545,6 +189490,7 @@ synonym: "Netherton disease" RELATED [OMIM:256500] synonym: "Netherton syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:256500] synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634] xref: DOID:0050474 {source="MONDO:equivalentTo"} +xref: GARD:7182 {source="Orphanet:634"} xref: ICD10CM:Q80.8 {source="Orphanet:634", source="Orphanet:634/attributed", source="Orphanet:634/ntbt"} xref: MedDRA:10062909 {source="Orphanet:634", source="Orphanet:634/e"} xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo"} @@ -186576,6 +189522,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7182/nethert id: MONDO:0009736 name: Neu-Laxova syndrome 1 def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22336"} synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [Orphanet:2671] synonym: "3-phosphoglycerate dehydrogenase deficiency, prenatal form" EXACT [Orphanet:583607] synonym: "Neu-Laxova syndrome" RELATED [OMIM:256520] @@ -186586,6 +189533,7 @@ synonym: "Neu-Laxova syndrome type 1" EXACT [DOID:0080076, MONDORULE:1, OMIM:256 synonym: "NLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256520] synonym: "PHGDH Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080076 {source="MONDO:equivalentTo"} +xref: GARD:22336 {source="Orphanet:583607"} xref: ICD10CM:E88.8 {source="Orphanet:583607"} xref: ICD10CM:Q87.8 {source="Orphanet:2671"} xref: MESH:C536405 {source="Orphanet:2671"} @@ -186603,7 +189551,7 @@ property_value: confidence "3.6800000000000015" xsd:double id: MONDO:0009737 name: galactosialidosis def: "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." [Orphanet:351] -subset: gard_rare {source="GARD:0003953"} +subset: gard_rare {source="GARD:3953"} subset: ordo_disease {source="Orphanet:351"} synonym: "cathepsin A deficiency" RELATED [OMIM:256540] synonym: "cathepsin A deficiency of" RELATED [GARD:0003953] @@ -186617,6 +189565,7 @@ synonym: "neuraminidase/Beta-galactosidase expression" RELATED [OMIM:256540] synonym: "PPCA deficiency" RELATED [OMIM:256540] synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540] xref: DOID:0080540 {source="MONDO:equivalentTo"} +xref: GARD:3953 {source="Orphanet:351"} xref: ICD10CM:E77.1 {source="Orphanet:351", source="Orphanet:351/attributed", source="Orphanet:351/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536411 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} @@ -186641,6 +189590,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3953/galacto id: MONDO:0009738 name: sialidosis type 2 def: "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." [Orphanet:87876] +subset: gard_rare {source="GARD:7183"} subset: ordo_disease {source="Orphanet:87876"} synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550] synonym: "dysmorphic sialidosis" EXACT [] @@ -186673,6 +189623,7 @@ synonym: "sialidosis, type 2" EXACT [OMIM:256550] synonym: "sialidosis, type I" EXACT [OMIM:256550, OMIM:genemap2] synonym: "sialidosis, type II" RELATED [GARD:0007183] xref: DOID:3343 {source="MONDO:equivalentTo"} +xref: GARD:7183 {source="Orphanet:87876"} xref: ICD10CM:E77.1 {source="Orphanet:87876/attributed", source="Orphanet:87876/ntbt", source="DOID:3343", source="Orphanet:87876"} xref: MESH:C562606 {source="MONDO:equivalentTo"} xref: MESH:D009081 {source="DOID:3343"} @@ -186724,12 +189675,13 @@ replaced_by: MONDO:0024457 id: MONDO:0009740 name: neurofaciodigitorenal syndrome def: "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." [Orphanet:2673] -subset: gard_rare {source="GARD:0003964"} +subset: gard_rare {source="GARD:3964"} subset: ordo_malformation_syndrome {source="Orphanet:2673"} synonym: "Freire Maia-Pinheiro-Opitz syndrome" EXACT [Orphanet:2673] synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964] synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690] synonym: "Nfdr syndrome" RELATED [OMIM:256690] +xref: GARD:3964 {source="Orphanet:2673"} xref: ICD10CM:Q87.8 {source="Orphanet:2673/attributed", source="Orphanet:2673/ntbt", source="Orphanet:2673"} xref: MESH:C537388 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} xref: OMIM:256690 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} @@ -186746,10 +189698,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3964/neurofa [Term] id: MONDO:0009741 name: neuroblastoma, susceptibility to, 1 +subset: gard_rare {source="GARD:15211"} subset: predisposition synonym: "neuroblastoma, susceptibility to" BROAD [OMIM:256700] synonym: "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" EXACT [OMIM:256700, OMIM:genemap2] synonym: "susceptibility to neuroblastoma" BROAD [OMIM:256700] +xref: GARD:15211 {source="OMIM:256700"} xref: OMIM:256700 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:256700"} xref: UMLS:C0027819 {source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline"} @@ -186767,10 +189721,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009742 name: neuroectodermal melanolysosomal disease def: "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment." [Orphanet:33445] +subset: gard_rare {source="GARD:16630"} subset: ordo_malformation_syndrome {source="Orphanet:33445"} synonym: "ELEJALDE disease" RELATED [OMIM:256710] synonym: "Elejalde disease" EXACT [Orphanet:33445] synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710] +xref: GARD:16630 {source="Orphanet:33445"} xref: ICD10CM:L81.4 {source="Orphanet:33445", source="Orphanet:33445/attributed", source="Orphanet:33445/ntbt"} xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} @@ -186798,7 +189754,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009744 name: neuronal ceroid lipofuscinosis 1 def: "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85861] -subset: gard_rare {source="GARD:0001219"} +subset: gard_rare {source="GARD:1219"} subset: ordo_disease {source="Orphanet:168486"} subset: ordo_etiological_subtype {source="Orphanet:228329"} synonym: "adult CLN (type of CLN1)" NARROW [GARD:0001219] @@ -186826,6 +189782,7 @@ synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MOND synonym: "Santavuori disease" NARROW [OMIM:256730] synonym: "Santavuori-Haltia disease" NARROW [OMIM:256730] xref: DOID:0110721 {source="MONDO:equivalentTo"} +xref: GARD:1219 {source="Orphanet:228329"} xref: ICD10CM:E75.4 {source="DOID:0110721", source="Orphanet:168486", source="Orphanet:228329/attributed", source="Orphanet:228329/ntbt", source="Orphanet:168486/attributed", source="Orphanet:168486/ntbt", source="Orphanet:228329"} xref: NCIT:C85861 {source="MONDO:equivalentTo"} xref: OMIM:214200 {source="MONDO:equivalentObsolete"} @@ -186857,7 +189814,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1219/ceroid- id: MONDO:0009745 name: neuronal ceroid lipofuscinosis 5 def: "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5] -subset: gard_rare {source="GARD:0001223"} +subset: gard_rare {source="GARD:1223"} subset: ordo_etiological_subtype {source="Orphanet:228360"} synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical, OMIM:256731] synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [OMIM:256731] @@ -186875,6 +189832,7 @@ synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223] synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731] xref: DOID:0110728 {source="MONDO:equivalentTo"} +xref: GARD:1223 {source="Orphanet:228360"} xref: ICD10CM:E75.4 {source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/attributed", source="Orphanet:228360/ntbt"} xref: MESH:C575534 {source="MONDO:equivalentTo"} xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/e"} @@ -186893,6 +189851,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1223/neurona id: MONDO:0009746 name: hereditary sensory and autonomic neuropathy type 4 def: "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." [Orphanet:642] +subset: gard_rare {source="GARD:3006"} subset: ordo_disease {source="Orphanet:642"} synonym: "CIP-anhidrosis syndrome" EXACT [Orphanet:642] synonym: "CIPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256800] @@ -186912,6 +189871,7 @@ synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:007014 synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800] synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070146 {source="MONDO:equivalentTo"} +xref: GARD:3006 {source="Orphanet:642"} xref: ICD10CM:G60.8 {source="Orphanet:642", source="Orphanet:642/attributed", source="Orphanet:642/ntbt"} xref: NCIT:C118633 {source="DOID:0070146", source="MONDO:equivalentTo"} xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="Orphanet:642/e"} @@ -186929,6 +189889,7 @@ property_value: confidence "0.7993530796457187" xsd:double [Term] id: MONDO:0009747 name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +subset: gard_rare {source="GARD:3972"} subset: ordo_disease {source="Orphanet:255229"} synonym: "mitochondrial DNA depletion syndrome 6" RELATED [DOID:0080125, GARD:0003972] synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:256810] @@ -186939,6 +189900,7 @@ synonym: "Navajo neurohepatopathy" EXACT [OMIM:256810] synonym: "Navajo neuropathy" EXACT [OMIM:256810, Orphanet:255229] synonym: "NN" RELATED ABBREVIATION [GARD:0003972] xref: DOID:0080125 {source="MONDO:equivalentTo"} +xref: GARD:3972 {source="Orphanet:255229"} xref: MESH:C538344 {source="MONDO:equivalentTo"} xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="Orphanet:255229/e"} xref: Orphanet:255229 {source="MONDO:equivalentTo", source="OMIM:256810"} @@ -186954,10 +189916,12 @@ property_value: confidence "0.0" xsd:double id: MONDO:0009748 name: hereditary sensory and autonomic neuropathy with spastic paraplegia def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." [Orphanet:139578] +subset: gard_rare {source="GARD:16959"} subset: ordo_disease {source="Orphanet:139578"} synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT CLINGEN_PREFERRED [] synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578] synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840] +xref: GARD:16959 {source="Orphanet:139578"} xref: ICD10CM:G60.8 {source="Orphanet:139578", source="Orphanet:139578/attributed", source="Orphanet:139578/ntbt"} xref: MESH:C564948 {source="MONDO:equivalentTo"} xref: OMIM:256840 {source="Orphanet:139578", source="MONDO:equivalentTo", source="Orphanet:139578/e"} @@ -186979,6 +189943,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009749 name: giant axonal neuropathy 1 def: "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy." [Orphanet:643] +subset: gard_rare {source="GARD:6500"} subset: ordo_disease {source="Orphanet:643"} synonym: "gan" EXACT [OMIM:256850, Orphanet:643] synonym: "GAN giant axonal neuropathy" EXACT [MONDO:patterns/disease_series_by_gene] @@ -186992,6 +189957,7 @@ synonym: "giant axonal neuropathy type 1" EXACT [DOID:0090068, MONDORULE:1] synonym: "giant axonal neuropathy-1" EXACT [OMIM:256850, OMIM:genemap2] synonym: "neuropathy, giant axonal" RELATED [GARD:0006500] xref: DOID:0090068 {source="MONDO:equivalentTo"} +xref: GARD:6500 {source="Orphanet:643"} xref: ICD10CM:G60.8 {source="Orphanet:643", source="Orphanet:643/attributed", source="Orphanet:643/ntbt"} xref: MESH:D056768 {source="Orphanet:643", source="Orphanet:643/e"} xref: OMIM:256850 {source="Orphanet:643", source="MONDO:equivalentTo", source="Orphanet:643/e", source="DOID:0090068"} @@ -187051,10 +190017,11 @@ is_obsolete: true [Term] id: MONDO:0009754 name: neutropenia, lethal congenital, with eosinophilia -subset: gard_rare {source="GARD:0006107"} +subset: gard_rare {source="GARD:6107"} synonym: "lethal congenital neutropenia with eosinophilia" RELATED [GARD:0006107] synonym: "neutropenia lethal congenital with eosinophilia" RELATED [GARD:0006107] synonym: "neutropenia, lethal congenital, with eosinophilia" EXACT [OMIM:257100] +xref: GARD:6107 {source="OMIM:257100"} xref: MESH:C564943 {source="MONDO:equivalentTo"} xref: OMIM:257100 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="OMIM:257100"} @@ -187091,12 +190058,14 @@ is_a: MONDO:0021583 {source="NCIT:C3694"} ! melanocytic skin neoplasm id: MONDO:0009756 name: Niemann-Pick disease type A def: "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." [Orphanet:77292] +subset: gard_rare {source="GARD:7206"} subset: ordo_disease {source="Orphanet:77292"} synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [OMIM:257200] synonym: "Niemann-PICK disease, type A" RELATED [OMIM:257200] synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200] synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200] xref: DOID:0070111 {source="MONDO:equivalentTo"} +xref: GARD:7206 {source="Orphanet:77292"} xref: ICD10CM:E75.2 {source="DOID:0070111", source="Orphanet:77292/inclusion", source="Orphanet:77292", source="Orphanet:77292/ntbt"} xref: MESH:D052536 {source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: NCIT:C126561 {source="MONDO:equivalentTo"} @@ -187151,6 +190120,7 @@ property_value: confidence "0.8364197530864197" xsd:double id: MONDO:0009758 name: congenital stationary night blindness 1B def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15212"} synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [DOID:0110865] synonym: "congenital stationary night blindness 1B" EXACT CLINGEN_PREFERRED [] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [DOID:0110865] @@ -187163,6 +190133,7 @@ synonym: "night blindness, congenital stationary (complete), 1B, autosomal reces synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [OMIM:257270] synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical, OMIM:257270] xref: DOID:0110865 {source="MONDO:equivalentTo"} +xref: GARD:15212 {source="OMIM:257270"} xref: OMIM:257270 {source="DOID:0110865", source="MONDO:equivalentTo"} xref: UMLS:C1850362 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257270"} is_a: MONDO:0016293 {source="DC-OMIM:257270", source="DOID:0110865", source="MONDO:Redundant", source="OMIM:257270"} ! congenital stationary night blindness @@ -187202,6 +190173,7 @@ property_value: confidence "3.500000000000001" xsd:double id: MONDO:0009760 name: Norman-Roberts syndrome def: "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." [Orphanet:89844] +subset: gard_rare {source="GARD:16780"} subset: ordo_clinical_subtype {source="Orphanet:89844"} synonym: "LIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257320] synonym: "lissencephaly 2" EXACT [DOID:0060902, MONDO:Lexical, OMIM:257320] @@ -187213,6 +190185,7 @@ synonym: "Microlissencephaly type A" EXACT [Orphanet:89844] synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277] synonym: "Norman-Roberts syndrome" EXACT CLINGEN_PREFERRED [OMIM:257320] xref: DOID:0060902 {source="MONDO:equivalentTo"} +xref: GARD:16780 {source="Orphanet:89844"} xref: ICD10CM:Q04.3 {source="Orphanet:89844", source="Orphanet:89844/attributed", source="Orphanet:89844/ntbt", source="DOID:0060902"} xref: MESH:C537848 {source="Orphanet:89844", source="Orphanet:89844/e", source="DOID:0060902"} xref: OMIM:257320 {source="Orphanet:89844", source="MONDO:equivalentTo", source="Orphanet:89844/e", source="DOID:0060902"} @@ -187232,7 +190205,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009761 name: cystic hygroma def: "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." [NCIT:C3724] -subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79486"} synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724] synonym: "cystic hygroma, fetal" RELATED [OMIM:257350] @@ -187290,7 +190262,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009764 name: ocular motor apraxia, Cogan type def: "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." [Orphanet:1125] -subset: gard_rare +subset: gard_rare {source="GARD:16"} subset: ordo_disease {source="Orphanet:1125"} synonym: "Cogan syndrome type 2" RELATED [] synonym: "Cogan's syndrome type 2" RELATED [GARD:0000016] @@ -187303,6 +190275,7 @@ synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [OMIM:257550, OMIM:g synonym: "saccade initiation failure congenital" RELATED [GARD:0000016] synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550] xref: DOID:0080849 {source="MONDO:equivalentTo"} +xref: GARD:16 {source="Orphanet:1125"} xref: ICD10CM:H51.8 {source="Orphanet:1125/ntbt", source="Orphanet:1125", source="Orphanet:1125/index"} xref: MESH:C537423 {source="Orphanet:1125", source="MONDO:equivalentTo", source="Orphanet:1125/e"} xref: OMIM:257550 {source="Orphanet:1125", source="MONDO:equivalentTo", source="GARD:0000016", source="Orphanet:1125/e"} @@ -187327,8 +190300,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009766 name: oculocerebral hypopigmentation syndrome of Preus +subset: gard_rare {source="GARD:4034"} synonym: "oculocerebral hypopigmentation syndrome of Preus" EXACT [OMIM:257790] synonym: "oculocerebral hypopigmentation syndrome type Preus" RELATED [GARD:0004034] +xref: GARD:4034 {source="Orphanet:2720"} xref: MESH:C537866 {source="MONDO:equivalentTo"} xref: OMIM:257790 {source="MONDO:equivalentTo"} xref: Orphanet:2720 {source="OMIM:257790", source="MONDO:equivalentTo"} @@ -187341,13 +190316,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009767 name: oculocerebral hypopigmentation syndrome, Cross type def: "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." [Orphanet:2719] -subset: gard_rare +subset: gard_rare {source="GARD:105"} subset: ordo_malformation_syndrome {source="Orphanet:2719"} synonym: "Cross syndrome" EXACT [GARD:0000105, OMIM:257800, Orphanet:2719] synonym: "hypopigmentation oculocerebral syndrome Cross type" RELATED [GARD:0000105] synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800] synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105] synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800] +xref: GARD:105 {source="Orphanet:2719"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:2719/ntbt", source="Orphanet:2719/inclusion", source="Orphanet:2719"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:257800 {source="Orphanet:2719/e", source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719"} @@ -187364,6 +190340,7 @@ property_value: confidence "7.0" xsd:double id: MONDO:0009768 name: oculodentodigital dysplasia, autosomal recessive def: "Autosomal recessive form of oculodentodigital dysplasia." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:15213"} synonym: "autosomal recessive oculodentodigital dysplasia" EXACT [MONDO:design_pattern] synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:257850] synonym: "oculodentoosseous dysplasia recessive" RELATED [GARD:0004045] @@ -187371,6 +190348,7 @@ synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850 synonym: "ODDD, autosomal recessive" RELATED [OMIM:257850] synonym: "ODOD recessive" RELATED [GARD:0004045] synonym: "ODOD, autosomal recessive" RELATED [OMIM:257850] +xref: GARD:15213 {source="OMIM:257850"} xref: MESH:C567605 {source="MONDO:equivalentTo"} xref: OMIM:257850 {source="MONDO:equivalentTo"} xref: Orphanet:2710 {source="OMIM:257850"} @@ -187386,11 +190364,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009769 name: oculo-palato-cerebral syndrome def: "Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." [Orphanet:2714] +subset: gard_rare {source="GARD:16606"} subset: ordo_malformation_syndrome {source="Orphanet:2714"} synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714] synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910] synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910] synonym: "OPC dwarfism" RELATED [OMIM:257910] +xref: GARD:16606 {source="Orphanet:2714"} xref: ICD10CM:Q87.1 {source="Orphanet:2714/attributed", source="Orphanet:2714/ntbt", source="Orphanet:2714"} xref: MESH:C564935 {source="MONDO:equivalentTo"} xref: OMIM:257910 {source="Orphanet:2714/e", source="MONDO:equivalentTo", source="Orphanet:2714"} @@ -187407,6 +190387,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009770 name: 3MC syndrome 1 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:4049"} synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920] synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1] @@ -187419,6 +190400,7 @@ synonym: "Michels syndrome, formerly" RELATED [OMIM:257920] synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920] xref: DOID:0060575 {source="MONDO:equivalentTo"} xref: EFO:1001978 {source="MONDO:equivalentTo"} +xref: GARD:4049 {source="OMIM:257920"} xref: OMIM:257920 {source="DOID:0060575", source="MONDO:equivalentTo"} xref: Orphanet:2506 {source="MONDO:equivalentObsolete", source="OMIM:257920"} xref: Orphanet:293843 {source="OMIM:257920"} @@ -187434,10 +190416,12 @@ id: MONDO:0009771 name: oculotrichodysplasia def: "Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2718] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163), and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:16607"} subset: ordo_malformation_syndrome {source="Orphanet:2718"} synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960] +xref: GARD:16607 {source="Orphanet:2718"} xref: MESH:C564934 {source="MONDO:equivalentTo"} xref: OMIM:257960 {source="Orphanet:2718/e", source="MONDO:equivalentTo", source="Orphanet:2718"} xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"} @@ -187451,12 +190435,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009772 name: oculorenocerebellar syndrome -subset: gard_rare {source="GARD:0004050"} +subset: gard_rare {source="GARD:4050"} subset: ordo_malformation_syndrome synonym: "absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy" RELATED [GARD:0004050] synonym: "absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" RELATED DEPRECATED [GARD:0004050] synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970] synonym: "ORC syndrome" RELATED [OMIM:257970] +xref: GARD:4050 {source="Orphanet:2715"} xref: MESH:C537739 {source="MONDO:equivalentTo"} xref: OMIM:257970 {source="MONDO:equivalentTo", source="Orphanet:2715"} xref: Orphanet:2715 {source="OMIM:257970", source="MONDO:equivalentTo"} @@ -187470,10 +190455,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4050/oculore id: MONDO:0009773 name: odonto-onycho-dermal dysplasia def: "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." [Orphanet:2721] +subset: gard_rare {source="GARD:4054"} subset: ordo_disease {source="Orphanet:2721"} synonym: "ectodermal dysplasia" BROAD [OMIM:257980] synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721] +xref: GARD:4054 {source="Orphanet:2721"} xref: ICD10CM:Q82.4 {source="Orphanet:2721", source="Orphanet:2721/attributed", source="Orphanet:2721/ntbt"} xref: MESH:C537742 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: OMIM:257980 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} @@ -187492,6 +190479,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009774 name: cloacal exstrophy def: "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." [Orphanet:93929] +subset: gard_rare {source="GARD:4080"} subset: ordo_clinical_subtype {source="Orphanet:93929"} synonym: "cloacal exstrophy" EXACT [MONDO:ambiguous] synonym: "cloacal exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -187504,6 +190492,7 @@ synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal def synonym: "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" EXACT [Orphanet:93929] synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:258040] xref: DOID:0080175 {source="MONDO:equivalentTo"} +xref: GARD:4080 {source="Orphanet:93929"} xref: HP:0010475 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.1 {source="Orphanet:93929/attributed", source="Orphanet:93929/ntbt", source="Orphanet:93929"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -187547,11 +190536,13 @@ property_value: confidence "0.6666666666666661" xsd:double [Term] id: MONDO:0009776 name: spermatogenic failure 1 +subset: gard_rare {source="GARD:15214"} synonym: "Oligochiasmatic infertility" RELATED [OMIM:258150] synonym: "Oligosynaptic infertility" RELATED [OMIM:258150] synonym: "spermatogenic failure 1" EXACT [MONDO:Lexical, OMIM:258150] synonym: "SPGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258150] xref: DOID:0070188 {source="MONDO:equivalentTo"} +xref: GARD:15214 {source="OMIM:258150"} xref: MESH:C562902 {source="MONDO:equivalentTo"} xref: OMIM:258150 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} @@ -187564,12 +190555,13 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0009777 name: Oliver syndrome def: "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." [Orphanet:2920] -subset: gard_rare {source="GARD:0004069"} +subset: gard_rare {source="GARD:4069"} subset: ordo_malformation_syndrome {source="Orphanet:2920"} synonym: "Oliver syndrome" EXACT [OMIM:258200] synonym: "postaxial polydactyly and intellectual disability" RELATED [OMIM:258200] synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM:258200] synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920] +xref: GARD:4069 {source="Orphanet:2920"} xref: ICD10CM:Q87.2 {source="Orphanet:2920", source="Orphanet:2920/attributed", source="Orphanet:2920/ntbt"} xref: MESH:C564931 {source="MONDO:equivalentTo"} xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="Orphanet:2920/e"} @@ -187597,6 +190589,7 @@ is_a: MONDO:0003847 {source="MESH:C564930/inferred"} ! hereditary disease id: MONDO:0009779 name: autosomal recessive omodysplasia def: "Autosomal recessive form of omodysplasia." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:4076"} subset: ordo_clinical_subtype {source="Orphanet:93329"} synonym: "autosomal recessive omodysplasia" EXACT CLINGEN_PREFERRED [] synonym: "micromelic dysplasia congenita with dislocation of radius" RELATED [GARD:0004076] @@ -187612,6 +190605,7 @@ synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_rec synonym: "omodysplasia, generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] xref: DOID:0080844 {source="MONDO:equivalentTo"} +xref: GARD:4076 {source="Orphanet:93329"} xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"} xref: OMIM:258315 {source="Orphanet:93329/e", source="MONDO:equivalentTo", source="Orphanet:93329"} xref: Orphanet:2733 {source="OMIM:258315"} @@ -187630,12 +190624,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009780 name: lethal omphalocele-cleft palate syndrome def: "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." [Orphanet:2736] -subset: gard_rare {source="GARD:0004079"} +subset: gard_rare {source="GARD:4079"} subset: ordo_malformation_syndrome {source="Orphanet:2736"} synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [OMIM:258320] synonym: "Czeizel syndrome" EXACT [Orphanet:2736] synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079] synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320] +xref: GARD:4079 {source="Orphanet:2736"} xref: ICD10CM:Q87.8 {source="Orphanet:2736/attributed", source="Orphanet:2736/ntbt", source="Orphanet:2736"} xref: MESH:C537747 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} xref: OMIM:258320 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} @@ -187652,7 +190647,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4079/omphalo [Term] id: MONDO:0009781 name: Onychotrichodysplasia and neutropenia -subset: gard_rare {source="GARD:0010161"} synonym: "onycho-tricho-dysplasia-neutropenia syndrome" EXACT [Orphanet:2739] synonym: "Onychotrichodysplasia and neutropenia" EXACT [OMIM:258360] xref: MESH:C537752 {source="MONDO:equivalentTo"} @@ -187675,6 +190669,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009783 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15215"} synonym: "arPEO" RELATED [GARD:0001191] synonym: "autosomal recessive progressive external ophthalmoplegia" RELATED [GARD:0001191] synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] @@ -187686,6 +190681,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:258450] synonym: "progressive external ophthalmoplegia, autosomal recessive 1" RELATED [OMIM:258450] xref: DOID:0111522 {source="MONDO:equivalentTo"} +xref: GARD:15215 {source="OMIM:258450"} xref: OMIM:258450 {source="MONDO:equivalentTo", source="GARD:0001191"} xref: Orphanet:254886 {source="OMIM:258450", source="GARD:0001191"} xref: UMLS:C1850303 {source="OMIM:258450", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -187712,11 +190708,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009785 name: opsismodysplasia def: "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." [Orphanet:2746] -subset: gard_rare {source="GARD:0004098"} +subset: gard_rare {source="GARD:4098"} subset: ordo_disease {source="Orphanet:2746"} synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [OMIM:258480] synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480] synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480] +xref: GARD:4098 {source="Orphanet:2746"} xref: ICD10CM:Q78.8 {source="Orphanet:2746", source="Orphanet:2746/attributed", source="Orphanet:2746/ntbt"} xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} @@ -187733,10 +190730,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4098/opsismo [Term] id: MONDO:0009786 name: optic atrophy 6 +subset: gard_rare {source="GARD:10200"} synonym: "OPA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258500] synonym: "optic atrophy 6" EXACT [MONDO:Lexical, OMIM:258500] synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [OMIM:258500] xref: DOID:0111435 {source="MONDO:equivalentTo"} +xref: GARD:10200 {source="OMIM:258500"} xref: MESH:C537127 {source="MONDO:equivalentTo"} xref: OMIM:258500 {source="MONDO:equivalentTo"} xref: Orphanet:99012 {source="MONDO:equivalentObsolete", source="OMIM:258500"} @@ -187748,6 +190747,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0009787 name: 3-methylglutaconic aciduria type 3 def: "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." [Orphanet:67047] +subset: gard_rare {source="GARD:5663"} subset: ordo_disease {source="Orphanet:67047"} synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663] synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern] @@ -187774,6 +190774,7 @@ synonym: "optic atrophy infantile with chorea and spastic paraplegia" RELATED [G synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501] synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501] xref: DOID:0110004 {source="MONDO:equivalentTo"} +xref: GARD:5663 {source="Orphanet:67047"} xref: ICD10CM:E71.1 {source="Orphanet:67047/attributed", source="Orphanet:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"} xref: MESH:C535311 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="Orphanet:67047"} xref: OMIM:258501 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="DOID:0110004", source="Orphanet:67047"} @@ -187826,7 +190827,6 @@ is_a: MONDO:0003847 {source="MESH:C563002/inferred"} ! hereditary disease [Term] id: MONDO:0009791 name: oral sensibility, disturbance of -subset: gard_rare subset: other_hierarchy synonym: "disturbance of oral sensitivity" RELATED [GARD:0009476] synonym: "impairment of oral perception" RELATED [GARD:0009476] @@ -187840,11 +190840,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9476/impairm id: MONDO:0009792 name: ichthyosis-oral and digital anomalies syndrome def: "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2272] +subset: gard_rare {source="GARD:2960"} subset: ordo_malformation_syndrome {source="Orphanet:2272"} synonym: "Clayton Smith-Donnai syndrome" EXACT [Orphanet:2272] synonym: "ichthyosis tapered fingers midline groove up" RELATED [GARD:0002960] synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840] synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960] +xref: GARD:2960 {source="Orphanet:2272"} xref: MESH:C536272 {source="MONDO:equivalentTo"} xref: OMIM:258840 {source="Orphanet:2272/e", source="MONDO:equivalentTo", source="Orphanet:2272"} xref: Orphanet:2272 {source="MONDO:equivalentTo", source="OMIM:258840"} @@ -187861,7 +190863,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009793 name: orofaciodigital syndrome III def: "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." [Orphanet:2752] -subset: gard_rare {source="GARD:0010518"} +subset: gard_rare {source="GARD:10518"} subset: ordo_malformation_syndrome {source="Orphanet:2752"} synonym: "OFD syndrome 3" RELATED [GARD:0010518] synonym: "OFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258850, Orphanet:2752] @@ -187876,6 +190878,7 @@ synonym: "orofaciodigital syndrome type 3" RELATED [Orphanet:2752] synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3] synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752] xref: DOID:0060373 {source="MONDO:equivalentTo"} +xref: GARD:10518 {source="Orphanet:2752"} xref: ICD10CM:Q87.0 {source="Orphanet:2752/attributed", source="Orphanet:2752/ntbt", source="Orphanet:2752"} xref: MESH:C557817 {source="DOID:0060373", source="MONDO:equivalentTo"} xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="MONDO:equivalentTo", source="Orphanet:2752/e"} @@ -187893,7 +190896,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10518/orofac id: MONDO:0009794 name: orofaciodigital syndrome IV def: "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." [Orphanet:2753] -subset: gard_rare {source="GARD:0000816"} +subset: gard_rare {source="GARD:816"} subset: ordo_malformation_syndrome {source="Orphanet:2753"} synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, Orphanet:2753] synonym: "Mohr-Majewski syndrome" EXACT [OMIM:258860, Orphanet:2753] @@ -187912,6 +190915,7 @@ synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, OMIM:258860] synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3] synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816] xref: DOID:0060374 {source="MONDO:equivalentTo"} +xref: GARD:816 {source="Orphanet:2753"} xref: ICD10CM:Q87.0 {source="Orphanet:2753/attributed", source="Orphanet:2753/ntbt", source="Orphanet:2753"} xref: MESH:C537133 {source="DOID:0060374", source="MONDO:equivalentTo"} xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="MONDO:equivalentTo", source="Orphanet:2753/e"} @@ -187933,7 +190937,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/816/orofacio id: MONDO:0009795 name: orofaciodigital syndrome IX def: "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)." [Orphanet:141007] -subset: gard_rare {source="GARD:0010520"} +subset: gard_rare {source="GARD:10520"} subset: ordo_malformation_syndrome {source="Orphanet:141007"} synonym: "OFD syndrome 9" RELATED [GARD:0010520] synonym: "OFD9" EXACT ABBREVIATION [DOID:0060382, MONDO:Lexical, OMIM:258865, Orphanet:141007] @@ -187950,6 +190954,7 @@ synonym: "orofaciodigital syndrome type 9" RELATED [Orphanet:141007] synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007] xref: DOID:0060382 {source="MONDO:equivalentTo"} +xref: GARD:10520 {source="Orphanet:141007"} xref: ICD10CM:Q87.0 {source="Orphanet:141007", source="Orphanet:141007/attributed", source="Orphanet:141007/ntbt"} xref: MESH:C557818 {source="MONDO:equivalentTo", source="DOID:0060382"} xref: OMIM:258865 {source="Orphanet:141007/e", source="MONDO:equivalentTo", source="Orphanet:141007", source="DOID:0060382"} @@ -187964,7 +190969,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10520/orofac id: MONDO:0009796 name: ornithine aminotransferase deficiency def: "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." [Orphanet:414] -subset: gard_rare +subset: gard_rare {source="GARD:6556"} subset: ordo_disease {source="Orphanet:414"} synonym: "Fuchs atrophia gyrata chorioideae et retinae" RELATED [GARD:0006556] synonym: "Fuchs gyrate atrophy" RELATED [MESH:C538071] @@ -187991,6 +190996,7 @@ synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [OMIM:258870] synonym: "Ornithinemia" RELATED [GARD:0007272] synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415] xref: DOID:1415 {source="MONDO:equivalentTo"} +xref: GARD:6556 {source="Orphanet:414"} xref: ICD10CM:E72.4 {source="Orphanet:414", source="Orphanet:414/attributed", source="Orphanet:414/ntbt"} xref: MESH:C537132 {source="Orphanet:414", source="Orphanet:414/e"} xref: MESH:C538071 {source="MONDO:relatedTo"} @@ -188020,6 +191026,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6556/gyrate- id: MONDO:0009797 name: orotic aciduria def: "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." [] +subset: gard_rare {source="GARD:5429"} subset: ordo_disease {source="Orphanet:30"} synonym: "hereditary orotic aciduria" RELATED [Orphanet:30] synonym: "OPRT and ODC deficiency" RELATED [OMIM:258900] @@ -188042,6 +191049,7 @@ synonym: "Umps deficiency" RELATED [OMIM:258900] synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900] synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30] xref: DOID:0050833 {source="MONDO:equivalentTo"} +xref: GARD:5429 {source="Orphanet:30"} xref: ICD10CM:E79.8 {source="Orphanet:30/index", source="Orphanet:30/ntbt", source="Orphanet:30"} xref: MedDRA:10052621 {source="Orphanet:30/e", source="Orphanet:30"} xref: MESH:C537136 {source="Orphanet:30/e", source="Orphanet:30"} @@ -188063,11 +191071,13 @@ property_value: confidence "3.7222222222222214" xsd:double id: MONDO:0009798 name: Primrose syndrome def: "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:3042] +subset: gard_rare {source="GARD:4488"} subset: ordo_malformation_syndrome {source="Orphanet:3042"} synonym: "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" EXACT [Orphanet:3042] synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [OMIM:259050] synonym: "Primrose syndrome" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/40006/, OMIM:259050, Orphanet:3042] synonym: "PRIMS" RELATED ABBREVIATION [OMIM:259050] +xref: GARD:4488 {source="Orphanet:3042"} xref: ICD10CM:Q87.8 {source="Orphanet:3042/attributed", source="Orphanet:3042/ntbt", source="Orphanet:3042"} xref: MESH:C536420 {source="MONDO:equivalentTo"} xref: OMIM:259050 {source="Orphanet:3042/e", source="MONDO:equivalentTo", source="Orphanet:3042"} @@ -188093,9 +191103,11 @@ replaced_by: MONDO:0016620 [Term] id: MONDO:0009800 name: Blount disease, adolescent +subset: gard_rare {source="GARD:15217"} synonym: "Blount disease, adolescent" EXACT [OMIM:259200] synonym: "Osteochondrosis deformans tibiae, adolescent" RELATED [OMIM:259200] synonym: "tibia vara, adolescent" RELATED [OMIM:259200] +xref: GARD:15217 {source="OMIM:259200"} xref: OMIM:259200 {source="MONDO:equivalentTo"} xref: Orphanet:2768 {source="OMIM:259200"} xref: UMLS:C0220757 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -188107,10 +191119,11 @@ property_value: confidence "0.9259259259259258" xsd:double id: MONDO:0009801 name: familial osteodysplasia, Anderson type def: "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:2769] -subset: gard_rare {source="GARD:0004136"} +subset: gard_rare {source="GARD:4136"} subset: ordo_malformation_syndrome {source="Orphanet:2769"} synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136] synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250] +xref: GARD:4136 {source="Orphanet:2769"} xref: MESH:C564923 {source="MONDO:equivalentTo"} xref: OMIM:259250 {source="Orphanet:2769/e", source="MONDO:equivalentTo", source="Orphanet:2769"} xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"} @@ -188128,7 +191141,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4136/osteody [Term] id: MONDO:0009802 name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski -subset: gard_rare {source="GARD:0008662"} synonym: "Danks Mayne Kozlowski precocious osteodysplasty" RELATED [GARD:0008662] synonym: "osteodysplasty precocious of Danks Mayne and Kozlowski" RELATED [GARD:0008662] synonym: "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski" EXACT [OMIM:259270] @@ -188142,8 +191154,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8662/osteody id: MONDO:0009803 name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome def: "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." [Orphanet:2772] +subset: gard_rare {source="GARD:4139"} subset: ordo_malformation_syndrome {source="Orphanet:2772"} synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410] +xref: GARD:4139 {source="Orphanet:2772"} xref: ICD10CM:Q78.0 {source="Orphanet:2772/attributed", source="Orphanet:2772/ntbt", source="Orphanet:2772", source="MONDO:directSiblingOf"} xref: MESH:C537558 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} xref: OMIM:259410 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} @@ -188160,6 +191174,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009804 name: osteogenesis imperfecta type 3 def: "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216812] +subset: gard_rare {source="GARD:8695"} subset: ordo_clinical_subtype {source="Orphanet:216812"} synonym: "OI type 3" EXACT [Orphanet:216812] synonym: "OI type III" RELATED [GARD:0008695] @@ -188177,6 +191192,7 @@ synonym: "progressively deforming OI" RELATED [GARD:0008695] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [DOID:0110339] synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812] xref: DOID:0110339 {source="MONDO:equivalentTo"} +xref: GARD:8695 {source="Orphanet:216812"} xref: ICD10CM:Q78.0 {source="Orphanet:216812/attributed", source="Orphanet:216812/ntbt", source="DOID:0110339", source="Orphanet:216812"} xref: MESH:C536044 {source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} xref: NCIT:C99002 {source="MONDO:equivalentTo"} @@ -188193,6 +191209,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009805 name: osteogenesis imperfecta type 9 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10619"} synonym: "OI 9" RELATED [GARD:0010619] synonym: "OI type IX" RELATED [GARD:0010619] synonym: "OI, type 9" RELATED [OMIM:259440] @@ -188205,6 +191222,7 @@ synonym: "osteogenesis imperfecta, type 9" RELATED [OMIM:259440] synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical, OMIM:259440] synonym: "PPIB osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110349 {source="MONDO:equivalentTo"} +xref: GARD:10619 {source="OMIM:259440"} xref: ICD10CM:Q78.0 {source="DOID:0110349"} xref: MESH:C564921 {source="MONDO:equivalentTo"} xref: OMIM:259440 {source="DOID:0110349", source="MONDO:equivalentTo"} @@ -188292,6 +191310,7 @@ property_value: IAO:0000589 "osteoid osteoma (disease)" xsd:string id: MONDO:0009809 name: multicentric osteolysis, nodulosis, and arthropathy def: "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." [NCIT:C123437] +subset: gard_rare {source="GARD:13743"} synonym: "Al-Aqeel Sewairi syndrome" RELATED [OMIM:259600] synonym: "mona" RELATED [MONDO:Lexical, OMIM:259600] synonym: "multicentric osteolysis, nodulosis, and arthropathy" EXACT [MONDO:Lexical, OMIM:259600] @@ -188301,6 +191320,7 @@ synonym: "osteolysis, hereditary multicentric" RELATED [OMIM:259600] synonym: "Torg syndrome" RELATED [OMIM:259600] synonym: "Torg-Winchester syndrome" RELATED [OMIM:259600] synonym: "Torg-Winchester syndrome, formerly" RELATED [OMIM:259600] +xref: GARD:13743 {source="OMIM:259600"} xref: NCIT:C123437 {source="MONDO:equivalentTo"} xref: OMIM:259600 {source="MONDO:equivalentTo"} xref: UMLS:C1850155 {source="OMIM:259600", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C123437"} @@ -188316,7 +191336,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009810 name: autosomal recessive distal osteolysis syndrome def: "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." [Orphanet:2776] -subset: gard_rare +subset: gard_rare {source="GARD:4299"} subset: ordo_malformation_syndrome {source="Orphanet:2776"} synonym: "distal osteolysis-short stature-intellectual disability syndrome" EXACT [Orphanet:2776] synonym: "osteolysis syndrome recessive" RELATED [GARD:0004144] @@ -188326,6 +191346,7 @@ synonym: "osteolysis, distal, with short stature, intellectual disability, and c synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED DEPRECATED [OMIM:259610] synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED DEPRECATED [GARD:0004144] synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776] +xref: GARD:4299 {source="Orphanet:2776"} xref: MESH:C536052 {source="MONDO:equivalentTo"} xref: OMIM:259610 {source="MONDO:equivalentTo", source="Orphanet:2776", source="Orphanet:2776/e", source="GARD:0004144"} xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"} @@ -188356,6 +191377,7 @@ replaced_by: MONDO:0009821 id: MONDO:0009813 name: chronic recurrent multifocal osteomyelitis def: "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." [Orphanet:324964] +subset: gard_rare {source="GARD:6108"} subset: ordo_disease {source="Orphanet:324964"} synonym: "chronic multifocal osteomyelitis" EXACT [DOID:0060645] synonym: "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" RELATED [Orphanet:324964] @@ -188369,6 +191391,7 @@ synonym: "NBO" EXACT ABBREVIATION [NCIT:C119042] synonym: "non-bacterial osteomyelitis" EXACT [NCIT:C119042] synonym: "osteomyelitis, chronic multifocal" RELATED [OMIM:259680] xref: DOID:0060645 {source="MONDO:equivalentTo"} +xref: GARD:6108 {source="Orphanet:324964"} xref: HP:0002754 {source="MONDO:otherHierarchy"} xref: ICD10CM:M86.3 {source="Orphanet:324964", source="DOID:0060645", source="Orphanet:324964/e"} xref: MESH:C535456 {source="MONDO:equivalentTo"} @@ -188386,12 +191409,14 @@ property_value: IAO:0000589 "chronic recurrent multifocal osteomyelitis (disease id: MONDO:0009814 name: osteopenia-intellectual disability-sparse hair syndrome def: "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." [Orphanet:2324] +subset: gard_rare {source="GARD:354"} subset: ordo_malformation_syndrome {source="Orphanet:2324"} synonym: "Kaler Garrity Stern syndrome" RELATED [GARD:0000354] synonym: "Kaler-Garrity-Stern syndrome" EXACT [Orphanet:2324] synonym: "osteopenia and sparse hair" RELATED [OMIM:259690] synonym: "osteopenia intellectual disability sparse hair" RELATED [GARD:0000354] synonym: "osteopenia mental retardation sparse hair" RELATED DEPRECATED [GARD:0000354] +xref: GARD:354 {source="Orphanet:2324"} xref: MESH:C537706 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} xref: OMIM:259690 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} xref: Orphanet:2324 {source="MONDO:equivalentTo", source="OMIM:259690"} @@ -188409,7 +191434,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009815 name: autosomal recessive osteopetrosis 1 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0002579"} +subset: gard_rare {source="GARD:2579"} synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700] synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942] synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern] @@ -188428,6 +191453,7 @@ synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700] synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TCIRG1 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110942 {source="MONDO:equivalentTo"} +xref: GARD:2579 {source="OMIM:259700"} xref: MESH:C564915 {source="MONDO:equivalentTo"} xref: NCIT:C167215 {source="MONDO:equivalentTo"} xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"} @@ -188447,7 +191473,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2579/osteope id: MONDO:0009816 name: autosomal recessive osteopetrosis 2 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0004157"} +subset: gard_rare {source="GARD:4157"} synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in TNFSF11" EXACT [] synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1] @@ -188463,6 +191489,7 @@ synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710] synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TNFSF11 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110943 {source="MONDO:equivalentTo"} +xref: GARD:4157 {source="OMIM:259710"} xref: MESH:C536059 {source="MONDO:equivalentTo"} xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:259710"} @@ -188481,7 +191508,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4157/osteope id: MONDO:0009817 name: autosomal recessive osteopetrosis 5 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0004153"} +subset: gard_rare {source="GARD:4153"} synonym: "autosomal recessive osteopetrosis 5" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive osteopetrosis type 5" EXACT [DOID:0110939, MONDORULE:1] synonym: "infantile malignant osteopetrosis 3" EXACT [DOID:0110939] @@ -188494,6 +191521,7 @@ synonym: "osteopetrosis, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:25 synonym: "osteopetrosis, infantile malignant 3" RELATED [OMIM:259720] synonym: "OSTM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110939 {source="MONDO:equivalentTo"} +xref: GARD:4153 {source="OMIM:259720"} xref: MESH:C566883 {source="MONDO:equivalentTo"} xref: OMIM:259720 {source="MONDO:equivalentTo", source="DOID:0110939"} xref: Orphanet:85179 {source="OMIM:259720"} @@ -188512,7 +191540,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4153/osteope id: MONDO:0009818 name: autosomal recessive osteopetrosis 3 def: "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." [Orphanet:2785] -subset: gard_rare {source="GARD:0004154"} +subset: gard_rare {source="GARD:4154"} subset: ordo_disease {source="Orphanet:2785"} synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [DOID:0110941] synonym: "autosomal recessive osteopetrosis type 3" EXACT [DOID:0110941, MONDORULE:1] @@ -188534,6 +191562,7 @@ synonym: "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" EXA synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:259730] synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785] xref: DOID:0110941 {source="MONDO:equivalentTo"} +xref: GARD:4154 {source="Orphanet:2785"} xref: ICD10CM:Q78.2 {source="Orphanet:2785/attributed", source="Orphanet:2785/ntbt", source="Orphanet:2785"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536058 {source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"} @@ -188563,7 +191592,7 @@ replaced_by: MONDO:0019409 id: MONDO:0009820 name: osteoporosis-pseudoglioma syndrome def: "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." [Orphanet:2788] -subset: gard_rare {source="GARD:0004160"} +subset: gard_rare {source="GARD:4160"} subset: ordo_disease {source="Orphanet:2788"} synonym: "ocular form of osteogenesis imperfecta" EXACT [DOID:0060849, Orphanet:2788] synonym: "OPPG" EXACT ABBREVIATION [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788] @@ -188574,6 +191603,7 @@ synonym: "osteoporosis pseudoglioma syndrome" RELATED [GARD:0004160] synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770] synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160] xref: DOID:0060849 {source="MONDO:equivalentTo"} +xref: GARD:4160 {source="Orphanet:2788"} xref: ICD10CM:Q87.5 {source="Orphanet:2788", source="DOID:0060849", source="Orphanet:2788/attributed", source="Orphanet:2788/ntbt"} xref: MedDRA:10052452 {source="Orphanet:2788", source="Orphanet:2788/e"} xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} @@ -188600,6 +191630,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4160/osteopo id: MONDO:0009821 name: lethal osteosclerotic bone dysplasia def: "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." [Orphanet:1832] +subset: gard_rare {source="GARD:282"} subset: ordo_malformation_syndrome {source="Orphanet:1832"} synonym: "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" RELATED [GARD:0000282] synonym: "lethal osteosclerotic bone dysplasia" EXACT CLINGEN_PREFERRED [] @@ -188608,6 +191639,7 @@ synonym: "osteosclerotic bone dysplasia, lethal" EXACT [OMIM:259775] synonym: "RAINE syndrome" EXACT [MONDO:Lexical, OMIM:259775] synonym: "Raine syndrome" EXACT [Orphanet:1832] synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775] +xref: GARD:282 {source="Orphanet:1832"} xref: ICD10CM:Q78.2 {source="Orphanet:1832", source="Orphanet:1832/attributed", source="Orphanet:1832/ntbt"} xref: MESH:C535282 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C564916 {source="MONDO:equivalentTo"} @@ -188626,10 +191658,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009822 name: otoonychoperoneal syndrome -subset: gard_rare {source="GARD:0004170"} +subset: gard_rare {source="GARD:4170"} subset: ordo_malformation_syndrome {source="Orphanet:2793"} synonym: "oto-onycho-peroneal syndrome" RELATED [GARD:0004170] synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780] +xref: GARD:4170 {source="Orphanet:2793"} xref: ICD10CM:Q87.5 {source="Orphanet:2793", source="Orphanet:2793/attributed", source="Orphanet:2793/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564912 {source="MONDO:equivalentTo"} @@ -188651,7 +191684,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4170/otoonyc id: MONDO:0009823 name: primary hyperoxaluria type 1 def: "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." [Orphanet:93598] -subset: gard_rare {source="GARD:0002835"} +subset: gard_rare {source="GARD:2835"} subset: ordo_clinical_subtype {source="Orphanet:93598"} synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] @@ -188671,6 +191704,7 @@ synonym: "primary hyperoxaluria type I" EXACT CLINGEN_PREFERRED [NCIT:C123212, P synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] xref: DOID:0111670 {source="MONDO:equivalentTo"} +xref: GARD:2835 {source="Orphanet:93598"} xref: ICD10CM:E74.8 {source="Orphanet:93598", source="Orphanet:93598/attributed", source="Orphanet:93598/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536414 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} @@ -188695,7 +191729,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2835/primary id: MONDO:0009824 name: primary hyperoxaluria type 2 def: "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." [Orphanet:93599] -subset: gard_rare {source="GARD:0002836"} +subset: gard_rare {source="GARD:2836"} subset: ordo_clinical_subtype {source="Orphanet:93599"} synonym: "D-glycerate dehydrogenase deficiency" EXACT [OMIM:260000, Orphanet:93599] synonym: "glyceric aciduria" RELATED [OMIM:260000] @@ -188710,6 +191744,7 @@ synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design synonym: "primary hyperoxaluria type 2" EXACT CLINGEN_PREFERRED [] synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: DOID:0111671 {source="MONDO:equivalentTo"} +xref: GARD:2836 {source="Orphanet:93599"} xref: ICD10CM:E74.8 {source="Orphanet:93599", source="Orphanet:93599/attributed", source="Orphanet:93599/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536415 {source="MONDO:equivalentTo"} @@ -188730,6 +191765,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2836/primary id: MONDO:0009825 name: 5-oxoprolinase deficiency def: "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." [Orphanet:33572] +subset: gard_rare {source="GARD:5681"} subset: ordo_disease {source="Orphanet:33572"} synonym: "5-alpha-oxoprolinase deficiency" RELATED [GARD:0005681] synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005] @@ -188740,6 +191776,7 @@ synonym: "OPLAHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260005] synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [OMIM:260005] synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572] synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:5681 {source="Orphanet:33572"} xref: HP:0040142 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.8 {source="Orphanet:33572/attributed", source="Orphanet:33572/ntbt", source="Orphanet:33572"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -188769,7 +191806,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009827 name: obsolete pachyonychia congenita, autosomal recessive +subset: gard_rare {source="GARD:15219"} synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130] +xref: GARD:15219 {source="MONDO:obsoleteEquivalent", source="OMIM:260130"} xref: MESH:C538094 {source="MONDO:obsoleteEquivalent"} xref: OMIM:260130 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1850103 {source="MONDO:obsoleteEquivalent", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260130"} @@ -188781,7 +191820,6 @@ consider: MONDO:0016471 [Term] id: MONDO:0009828 name: palant cleft palate syndrome -subset: gard_rare {source="GARD:0004198"} synonym: "Palant cleft palate syndrome" EXACT [OMIM:260150] synonym: "unusual facies, cleft palate, intellectual disability, and limb abnormalities" RELATED [GARD:0004198] synonym: "unusual facies, cleft palate, mental retardation, and limb abnormalities" RELATED DEPRECATED [GARD:0004198] @@ -188808,6 +191846,7 @@ consider: HP:0007132 id: MONDO:0009830 name: parkinsonian-pyramidal syndrome def: "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." [DOID:0060372, PMID:22315721] +subset: gard_rare {source="GARD:9175"} subset: ordo_disease {source="Orphanet:171695"} synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [DOID:0060372] synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [DOID:0060372, MONDORULE:2] @@ -188821,6 +191860,7 @@ synonym: "Parkinson disease 15, autosomal recessive" EXACT [OMIM:260300, OMIM:ge synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:260300] synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_PREFERRED [DOID:0060372, OMIM:260300] xref: DOID:0060372 {source="MONDO:equivalentTo"} +xref: GARD:9175 {source="Orphanet:171695"} xref: ICD10CM:G20 {source="Orphanet:171695", source="Orphanet:171695/attributed", source="Orphanet:171695/ntbt"} xref: MESH:C538104 {source="MONDO:equivalentTo"} xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="DOID:0060372", source="Orphanet:171695/e"} @@ -188897,6 +191937,7 @@ property_value: confidence "2.423076923076922" xsd:double id: MONDO:0009832 name: pancreatic agenesis def: "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." [Orphanet:2805] +subset: gard_rare {source="GARD:4203"} subset: ordo_morphological_anomaly {source="Orphanet:2805"} subset: prototype_pattern synonym: "congenital pancreatic agenesis" EXACT [Orphanet:2805] @@ -188906,6 +191947,7 @@ synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370] synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805] synonym: "partial pancreatic agenesis" EXACT [DOID:0050877] xref: DOID:0050877 {source="MONDO:equivalentTo"} +xref: GARD:4203 {source="Orphanet:2805"} xref: ICD10CM:Q45.0 {source="Orphanet:2805/attributed", source="Orphanet:2805/ntbt", source="Orphanet:2805"} xref: MESH:C564908 {source="MONDO:equivalentTo"} xref: OMIMPS:260370 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -188921,7 +191963,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009833 name: Shwachman-Diamond syndrome def: "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." [Orphanet:811] -subset: gard_rare {source="GARD:0004863"} +subset: gard_rare {source="GARD:4863"} subset: ordo_disease {source="Orphanet:811"} synonym: "congenital lipomatosis of pancreas" RELATED [GARD:0004863] synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400] @@ -188936,6 +191978,7 @@ synonym: "Shwachman-Diamond syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OM synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023] xref: DOID:0060479 {source="MONDO:equivalentTo"} xref: DOID:0080023 {source="MONDO:equivalentObsolete"} +xref: GARD:4863 {source="Orphanet:811"} xref: ICD10CM:D61.0 {source="Orphanet:811/inclusion", source="Orphanet:811/ntbt", source="Orphanet:811", source="DOID:0060479"} xref: MedDRA:10067940 {source="Orphanet:811", source="Orphanet:811/e"} xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo"} @@ -188967,7 +192010,7 @@ replaced_by: MONDO:0009479 id: MONDO:0009835 name: subacute sclerosing panencephalitis def: "A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." [Orphanet:2806] -subset: gard_rare {source="GARD:0007708"} +subset: gard_rare {source="GARD:7708"} subset: ordo_disease {source="Orphanet:2806"} synonym: "Dawson disease" RELATED [GARD:0007708] synonym: "Dawson encephalitis" RELATED [GARD:0007708] @@ -188986,6 +192029,7 @@ synonym: "Van Bogaert encephalitis" EXACT [Orphanet:2806] synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970] xref: DOID:8970 {source="EFO:0007502", source="MONDO:equivalentTo"} xref: EFO:0007502 {source="MONDO:equivalentTo"} +xref: GARD:7708 {source="Orphanet:2806"} xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="Orphanet:2806/ntbt", source="DOID:8970", source="Orphanet:2806"} xref: ICD9:046.2 {source="DOID:8970"} xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="DOID:8970"} @@ -189018,6 +192062,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009837 name: choroid plexus papilloma def: "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." [Orphanet:2807] +subset: gard_rare {source="GARD:4214"} subset: ordo_disease {source="Orphanet:2807"} synonym: "childhood choroid plexus papilloma" NARROW [DOID:2626] synonym: "childhood papilloma of choroid plexus" NARROW [DOID:2626] @@ -189033,6 +192078,7 @@ synonym: "papilloma, choroid plexus, benign" RELATED [NCIT:C3698] synonym: "pediatric papilloma of choroid plexus" NARROW [DOID:2626, NCIT:C5800] xref: DOID:2626 {source="MONDO:equivalentTo"} xref: EFO:1000177 {source="MONDO:equivalentTo"} +xref: GARD:4214 {source="Orphanet:2807"} xref: ICD10CM:D33.0 {source="Orphanet:2807/ntbt", source="Orphanet:2807"} xref: ICDO:9390/0 {source="NCIT:C3698"} xref: MedDRA:10008777 {source="Orphanet:2807/e", source="Orphanet:2807"} @@ -189061,12 +192107,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009838 name: Parana hard-skin syndrome def: "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." [NCIT:C126559] +subset: gard_rare {source="GARD:2598"} subset: ordo_disease {source="Orphanet:2812"} synonym: "hard skin syndrome Parana type" EXACT [NCIT:C126559] synonym: "hard skin syndrome, Parana type" EXACT [Orphanet:2812] synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812] synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812] synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530] +xref: GARD:2598 {source="Orphanet:2812"} xref: ICD10CM:L91.8 {source="Orphanet:2812", source="Orphanet:2812/attributed", source="Orphanet:2812/ntbt"} xref: MESH:C564905 {source="MONDO:equivalentTo"} xref: NCIT:C126559 {source="MONDO:equivalentTo"} @@ -189081,6 +192129,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0009839 name: progressive supranuclear palsy-parkinsonism syndrome def: "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240085] +subset: gard_rare {source="GARD:17183"} subset: ordo_clinical_subtype {source="Orphanet:240085"} synonym: "atypical PSP" RELATED [GARD:0004507] synonym: "Parkinson-dementia syndrome" RELATED [OMIM:260540] @@ -189090,6 +192139,7 @@ synonym: "PSP-parkinsonism" EXACT [Orphanet:240085] synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540] synonym: "supranuclear palsy, progressive atypical" EXACT [OMIM:260540, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540] +xref: GARD:17183 {source="Orphanet:240085"} xref: ICD10CM:G23.1 {source="Orphanet:240085", source="Orphanet:240085/attributed", source="Orphanet:240085/ntbt"} xref: MESH:C537240 {source="MONDO:equivalentTo"} xref: OMIM:260540 {source="Orphanet:240085", source="MONDO:equivalentTo", source="Orphanet:240085/e"} @@ -189119,7 +192169,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009841 name: PEHO syndrome def: "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." [Orphanet:2836] -subset: gard_rare {source="GARD:0004264"} +subset: gard_rare {source="GARD:4264"} subset: ordo_disease {source="Orphanet:2836"} synonym: "infantile Cerebellooptic atrophy" RELATED [OMIM:260565] synonym: "peho" RELATED [OMIM:260565] @@ -189129,6 +192179,7 @@ synonym: "progressive encephalopathy with edema, hypsarrhythmia and optic atroph synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [OMIM:260565] synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836] xref: DOID:0080539 {source="MONDO:equivalentTo"} +xref: GARD:4264 {source="Orphanet:2836"} xref: ICD10CM:G31.8 {source="Orphanet:2836", source="Orphanet:2836/attributed", source="Orphanet:2836/ntbt"} xref: MESH:C536317 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: OMIM:260565 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} @@ -189161,7 +192212,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009843 name: hypomyelinating leukodystrophy 3 def: "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0004266"} +subset: gard_rare {source="GARD:4266"} subset: ordo_clinical_subtype {source="Orphanet:280293"} synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD3" EXACT ABBREVIATION [DOID:0060790, MONDO:Lexical, OMIM:260600] @@ -189174,6 +192225,7 @@ synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1, OMIM:2606 synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790] synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266] xref: DOID:0060790 {source="MONDO:equivalentTo"} +xref: GARD:4266 {source="Orphanet:280293"} xref: ICD10CM:E75.2 {source="Orphanet:280293/attributed", source="Orphanet:280293/ntbt", source="Orphanet:280293", source="DOID:0060790"} xref: MESH:C536319 {source="MONDO:equivalentTo"} xref: OMIM:260600 {source="Orphanet:280293", source="MONDO:equivalentTo", source="Orphanet:280293/e", source="DOID:0060790"} @@ -189191,7 +192243,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4266/leukody [Term] id: MONDO:0009844 name: pellagra-like syndrome -subset: gard_rare {source="GARD:0004267"} synonym: "pellagra like syndrome" RELATED [GARD:0004267] synonym: "pellagra-like rash with neurologic manifestations" RELATED [GARD:0004267] synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [Orphanet:2837] @@ -189207,6 +192258,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4267/pellagr id: MONDO:0009845 name: pelviscapular dysplasia def: "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." [Orphanet:93333] +subset: gard_rare {source="GARD:1555"} subset: ordo_malformation_syndrome {source="Orphanet:93333"} synonym: "COUSIN syndrome" RELATED [OMIM:260660] synonym: "Cousin syndrome" EXACT [Orphanet:93333] @@ -189214,6 +192266,7 @@ synonym: "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short s synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [OMIM:260660] synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333] synonym: "pelviscapular dysplasia" EXACT [OMIM:260660] +xref: GARD:1555 {source="Orphanet:93333"} xref: ICD10CM:Q87.5 {source="Orphanet:93333/attributed", source="Orphanet:93333/ntbt", source="Orphanet:93333"} xref: MESH:C535550 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} xref: OMIM:260660 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} @@ -189232,7 +192285,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009846 name: pentosuria def: "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." [Orphanet:2843] -subset: gard_rare {source="GARD:0000418"} +subset: gard_rare {source="GARD:418"} subset: mostly_harmless {source="PMID:29884839"} subset: ordo_disease {source="Orphanet:2843"} synonym: "essential pentosuria" EXACT [Orphanet:2843] @@ -189242,6 +192295,7 @@ synonym: "pentosuria" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:260800, OMIM: synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260800] synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843] xref: DOID:0111258 {source="MONDO:equivalentTo"} +xref: GARD:418 {source="Orphanet:2843"} xref: ICD10CM:E74.8 {source="Orphanet:2843/inclusion", source="Orphanet:2843", source="Orphanet:2843/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064170 {source="Orphanet:2843", source="Orphanet:2843/e"} @@ -189277,10 +192331,11 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0009848 name: dissecting cellulitis of the scalp def: "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." [Orphanet:345] -subset: gard_rare {source="GARD:0001883"} +subset: gard_rare {source="GARD:1883"} subset: ordo_disease {source="Orphanet:345"} synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910] synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [OMIM:260910] +xref: GARD:1883 {source="Orphanet:345"} xref: ICD10CM:L08.8 {source="Orphanet:345", source="Orphanet:345/ntbt"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056961 {source="Orphanet:345", source="Orphanet:345/e"} @@ -189297,6 +192352,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1883/dissect id: MONDO:0009849 name: hyperimmunoglobulinemia D with periodic fever def: "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." [Orphanet:343] +subset: gard_rare {source="GARD:2788"} subset: ordo_disease {source="Orphanet:343"} synonym: "HIDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260920, Orphanet:343] synonym: "hyper IgD syndrome" RELATED [GARD:0002788] @@ -189307,6 +192363,7 @@ synonym: "hyperimmunoglobulinemia D syndrome" EXACT [Orphanet:343] synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343] synonym: "periodic fever Dutch type" RELATED [GARD:0002788] synonym: "periodic fever, Dutch type" RELATED [OMIM:260920] +xref: GARD:2788 {source="Orphanet:343"} xref: ICD10CM:E85.0 {source="Orphanet:343/attributed", source="Orphanet:343/ntbt", source="Orphanet:343"} xref: OMIM:260920 {source="Orphanet:343/e", source="MONDO:equivalentTo", source="Orphanet:343"} xref: Orphanet:343 {source="OMIM:260920", source="MONDO:equivalentTo"} @@ -189343,6 +192400,7 @@ is_a: MONDO:0003847 {source="MESH:C564894/inferred"} ! hereditary disease id: MONDO:0009852 name: hereditary intrinsic factor deficiency def: "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." [Orphanet:332] +subset: gard_rare {source="GARD:3024"} subset: ordo_disease {source="Orphanet:332"} synonym: "congenital intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "congenital pernicious anaemia" EXACT OMO:0003005 [] @@ -189357,6 +192415,7 @@ synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical, OMIM:261000, Orphan synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024] synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000] xref: DOID:0050734 {source="MONDO:equivalentTo"} +xref: GARD:3024 {source="Orphanet:332"} xref: ICD10CM:D51.0 {source="Orphanet:332/attributed", source="Orphanet:332/ntbt", source="Orphanet:332"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070440 {source="Orphanet:332/e", source="Orphanet:332"} @@ -189379,6 +192438,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0009853 name: Imerslund-Grasbeck syndrome def: "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." [Orphanet:35858] +subset: gard_rare {source="GARD:7006"} subset: ordo_disease {source="Orphanet:35858"} synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006] synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100] @@ -189390,6 +192450,7 @@ synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677] synonym: "juvenile megaloblastic Anaemia" EXACT OMO:0003005 [] synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] +xref: GARD:7006 {source="Orphanet:35858"} xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538556 {source="MONDO:equivalentTo"} @@ -189418,7 +192479,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009855 name: d-bifunctional protein deficiency def: "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." [https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency] -subset: gard_rare {source="GARD:0004539"} +subset: gard_rare {source="GARD:4539"} subset: ordo_disease {source="Orphanet:300"} synonym: "17-beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [OMIM:261515] synonym: "17-beta-hydroxysteroid dehydrogenase IV deficiency" RELATED [GARD:0004539] @@ -189434,6 +192495,7 @@ synonym: "peroxisomal multifunctional enzyme (MFE2) deficiency" EXACT [NCIT:C119 synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676] xref: DOID:0090031 {source="MONDO:equivalentTo"} +xref: GARD:4539 {source="Orphanet:300"} xref: ICD10CM:E71.3 {source="DOID:0090031", source="Orphanet:300/attributed", source="Orphanet:300/ntbt", source="Orphanet:300"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536663 {source="Orphanet:300/e", source="Orphanet:300"} @@ -189454,7 +192516,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4539/d-bifun id: MONDO:0009856 name: Peters plus syndrome def: "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." [Orphanet:709] -subset: gard_rare {source="GARD:0008422"} +subset: gard_rare {source="GARD:8422"} subset: ordo_malformation_syndrome {source="Orphanet:709"} synonym: "Krause-Kivlin syndrome" EXACT [DOID:0080201, OMIM:261540, Orphanet:709] synonym: "Krause-van Schooneveld-Kivlin syndrome" EXACT [Orphanet:709] @@ -189464,6 +192526,7 @@ synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [DOID:0080201] synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540] xref: DOID:0070312 {source="MONDO:equivalentObsolete"} xref: DOID:0080201 {source="MONDO:equivalentTo"} +xref: GARD:8422 {source="Orphanet:709"} xref: ICD10CM:Q13.4 {source="Orphanet:709/attributed", source="Orphanet:709/ntbt", source="Orphanet:709"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537617 {source="MONDO:equivalentTo"} @@ -189488,7 +192551,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8422/peters- id: MONDO:0009857 name: persistent Mullerian duct syndrome def: "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." [Orphanet:2856] -subset: gard_rare {source="GARD:0008435"} +subset: gard_rare {source="GARD:8435"} subset: ordo_malformation_syndrome {source="Orphanet:2856"} synonym: "female genital ducts in otherwise normal Male" RELATED [OMIM:261550] synonym: "female genital ducts in otherwise normal male" RELATED [GARD:0008435] @@ -189506,6 +192569,7 @@ synonym: "persistent oviduct syndrome" RELATED [OMIM:261550] synonym: "PMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261550, Orphanet:2856] synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550] xref: DOID:0050791 {source="MONDO:equivalentTo"} +xref: GARD:8435 {source="Orphanet:2856"} xref: ICD10CM:Q55.8 {source="Orphanet:2856", source="Orphanet:2856/attributed", source="Orphanet:2856/ntbt"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} @@ -189524,13 +192588,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8435/persist id: MONDO:0009858 name: Pfeiffer-Palm-Teller syndrome def: "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." [Orphanet:2871] -subset: gard_rare {source="GARD:0004305"} +subset: gard_rare {source="GARD:4305"} subset: ordo_malformation_syndrome {source="Orphanet:2871"} synonym: "Pfeiffer Palm Teller syndrome" RELATED [GARD:0004305] synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560] synonym: "PPT syndrome" RELATED [OMIM:261560] synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305] synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560] +xref: GARD:4305 {source="Orphanet:2871"} xref: ICD10CM:Q87.1 {source="Orphanet:2871/attributed", source="Orphanet:2871/ntbt", source="Orphanet:2871"} xref: MESH:C537889 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} xref: OMIM:261560 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} @@ -189548,11 +192613,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4305/pfeiffe id: MONDO:0009859 name: PHAVER syndrome def: "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." [Orphanet:2876] -subset: gard_rare {source="GARD:0004465"} +subset: gard_rare {source="GARD:4465"} subset: ordo_malformation_syndrome {source="Orphanet:2876"} synonym: "PHAVER syndrome" EXACT [OMIM:261575] synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876] synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465] +xref: GARD:4465 {source="Orphanet:2876"} xref: ICD10CM:Q87.8 {source="Orphanet:2876", source="Orphanet:2876/attributed", source="Orphanet:2876/ntbt"} xref: MESH:C538357 {source="MONDO:equivalentTo"} xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="Orphanet:2876/e"} @@ -189578,6 +192644,7 @@ id: MONDO:0009861 name: phenylketonuria def: "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." [Orphanet:716] subset: clingen +subset: gard_rare {source="GARD:7383"} subset: ordo_disease {source="Orphanet:716"} synonym: "Folling disease" RELATED EXCLUDE [OMIM:261600] synonym: "Folling's disease" RELATED EXCLUDE [DOID:9281] @@ -189597,6 +192664,7 @@ synonym: "phenylketonuria, maternal" RELATED [OMIM:261600] synonym: "phenylpyruvic oligophrenia" RELATED [] synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, OMIM:261600, Orphanet:716] xref: DOID:9281 {source="MONDO:equivalentTo"} +xref: GARD:7383 {source="Orphanet:716"} xref: ICD10CM:E70.0 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} xref: ICD10CM:E70.1 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} xref: ICD9:270.1 {source="DOID:9281"} @@ -189628,7 +192696,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009862 name: dihydropteridine reductase deficiency def: "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." [Orphanet:226] -subset: gard_rare {source="GARD:0004319"} +subset: gard_rare {source="GARD:4319"} subset: ordo_clinical_subtype {source="Orphanet:226"} synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern] synonym: "DHPR deficiency" RELATED [OMIM:261630] @@ -189646,6 +192714,7 @@ synonym: "PKU type 2" EXACT [Orphanet:226] synonym: "Qdpr deficiency" RELATED [OMIM:261630] synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630] xref: DOID:0081130 {source="MONDO:equivalentTo"} +xref: GARD:4319 {source="Orphanet:226"} xref: ICD10CM:E70.1 {source="Orphanet:226/attributed", source="Orphanet:226/ntbt", source="Orphanet:226"} xref: MESH:C537896 {source="Orphanet:226", source="Orphanet:226/e"} xref: NCIT:C138173 {source="MONDO:equivalentTo"} @@ -189669,6 +192738,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4319/dihydro id: MONDO:0009863 name: BH4-deficient hyperphenylalaninemia A def: "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." [NCIT:C138171] +subset: gard_rare {source="GARD:5682"} subset: ordo_clinical_subtype {source="Orphanet:13"} synonym: "6-pyruvoyl tetrahydropterin synthase deficiency" EXACT [NCIT:C138171] synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106] @@ -189688,6 +192758,7 @@ synonym: "PTS deficiency" EXACT [DOID:0090106, MESH:C535325, OMIM:261640] synonym: "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" RELATED [MESH:C535325] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [DOID:0090106] xref: DOID:0090106 {source="MONDO:equivalentTo"} +xref: GARD:5682 {source="Orphanet:13"} xref: ICD10CM:E70.1 {source="Orphanet:13/attributed", source="Orphanet:13/ntbt", source="Orphanet:13", source="DOID:0090106"} xref: MESH:C535325 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e"} xref: NCIT:C138171 {source="MONDO:equivalentTo"} @@ -189706,6 +192777,7 @@ property_value: confidence "0.33333333333333304" xsd:double [Term] id: MONDO:0009864 name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial +subset: gard_rare {source="GARD:4279"} synonym: "PCK2 deficiency" RELATED [OMIM:261650] synonym: "PCKDM" RELATED ABBREVIATION [OMIM:261650] synonym: "PEPCK 2 deficiency" RELATED [GARD:0004279] @@ -189714,6 +192786,7 @@ synonym: "PEPCK2" RELATED ABBREVIATION [GARD:0004279] synonym: "PEPCK2 deficiency" RELATED [OMIM:261650] synonym: "phosphoenolpyruvate carboxykinase 2 deficiency" RELATED [GARD:0004279] synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" EXACT [OMIM:261650] +xref: GARD:4279 {source="OMIM:261650"} xref: MESH:C564890 {source="MONDO:equivalentTo"} xref: OMIM:261650 {source="MONDO:equivalentTo"} xref: Orphanet:2880 {source="OMIM:261650"} @@ -189728,6 +192801,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009865 name: glycogen storage disease due to phosphoglycerate mutase deficiency def: "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." [NCIT:C131647] +subset: gard_rare {source="GARD:9964"} subset: ordo_disease {source="Orphanet:97234"} synonym: "glycogen storage disease 10" RELATED [OMIM:261670] synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern] @@ -189747,6 +192821,7 @@ synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:pat synonym: "PGAMM deficiency" RELATED [OMIM:261670] synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964] synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670] +xref: GARD:9964 {source="Orphanet:97234"} xref: ICD10CM:E74.0 {source="Orphanet:97234", source="Orphanet:97234/attributed", source="Orphanet:97234/ntbt"} xref: MESH:C536176 {source="MONDO:equivalentTo"} xref: NCIT:C131647 {source="MONDO:equivalentTo"} @@ -189766,7 +192841,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009866 name: phosphoenolpyruvate carboxykinase deficiency, cytosolic def: "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." [GARD:0004278] -subset: gard_rare +subset: gard_rare {source="GARD:4278"} synonym: "PCK1 deficiency, cytosolic" RELATED [OMIM:261680] synonym: "PCKDC" RELATED ABBREVIATION [OMIM:261680] synonym: "PEP carboxykinase deficiency" RELATED [GARD:0004278] @@ -189778,6 +192853,7 @@ synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic" EXACT [OMIM:2 synonym: "phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" RELATED [GARD:0004278] synonym: "phosphoenolpyruvate carboxylase deficiency" RELATED [GARD:0004278] synonym: "phosphopyruvate carboxylase deficiency" RELATED [GARD:0004278] +xref: GARD:4278 {source="OMIM:261680"} xref: OMIM:261680 {source="GARD:0004278", source="MONDO:equivalentTo"} xref: Orphanet:2880 {source="OMIM:261680"} xref: Orphanet:79316 {source="MONDO:equivalentObsolete", source="OMIM:261680"} @@ -189791,6 +192867,7 @@ property_value: confidence "1.2463768115942027" xsd:double id: MONDO:0009867 name: lethal congenital glycogen storage disease of heart def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10728"} subset: ordo_disease {source="Orphanet:439854"} synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [Orphanet:439854] synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854] @@ -189802,6 +192879,7 @@ synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:26 synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:261740] synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090101 {source="MONDO:equivalentTo"} +xref: GARD:10728 {source="Orphanet:439854"} xref: ICD10EXP:E74.0+ {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} xref: ICD10EXP:G73.6* {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} xref: MESH:C564888 {source="MONDO:equivalentTo"} @@ -189821,6 +192899,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009868 name: glycogen storage disease IXb def: "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." [Orphanet:79240] +subset: gard_rare {source="GARD:16711"} subset: ordo_disease {source="Orphanet:79240"} synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240] @@ -189840,6 +192919,7 @@ synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patt synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750] xref: DOID:0111041 {source="MONDO:equivalentTo"} +xref: GARD:16711 {source="Orphanet:79240"} xref: ICD10CM:E74.0 {source="DOID:0111041", source="Orphanet:79240", source="Orphanet:79240/attributed", source="Orphanet:79240/ntbt"} xref: MESH:C563008 {source="MONDO:equivalentTo"} xref: OMIM:261750 {source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:79240/e"} @@ -189860,7 +192940,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009869 name: isolated Pierre-Robin syndrome def: "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." [Orphanet:718] -subset: gard_rare +subset: gard_rare {source="GARD:4347"} subset: ordo_malformation_syndrome {source="Orphanet:718"} synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855, OMIM:261800] synonym: "isolated Pierre Robin sequence" EXACT [Orphanet:718] @@ -189880,6 +192960,7 @@ synonym: "sequence, Pierre Robin's" RELATED [MESH:D010855] synonym: "sequence, Robin" RELATED [MESH:D010855] synonym: "syndrome, Pierre Robin" RELATED [MESH:D010855] synonym: "syndrome, Pierre-Robin" RELATED [MESH:D010855] +xref: GARD:4347 {source="Orphanet:718"} xref: ICD10CM:Q87.0 {source="Orphanet:718/inclusion", source="Orphanet:718/ntbt", source="Orphanet:718"} xref: MESH:D010855 {source="MONDO:equivalentTo"} xref: NCIT:C85010 {source="MONDO:equivalentTo"} @@ -189897,6 +192978,7 @@ property_value: confidence "4.799999999999999" xsd:double id: MONDO:0009870 name: pili torti def: "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." [Orphanet:2889] +subset: gard_rare {source="GARD:4361"} subset: ordo_disease {source="Orphanet:2889"} synonym: "coarse, dry, lusterless hair which breaks off easily" RELATED [GARD:0004361] synonym: "pili torti" EXACT [MONDO:ambiguous] @@ -189904,6 +192986,7 @@ synonym: "pili torti (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pili torti, early-onset" RELATED [OMIM:261900] synonym: "pili torti, Ronchese type" RELATED [OMIM:261900] synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889] +xref: GARD:4361 {source="Orphanet:2889"} xref: HP:0003777 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.1 {source="Orphanet:2889", source="Orphanet:2889/attributed", source="Orphanet:2889/ntbt"} xref: MESH:C562485 {source="MONDO:equivalentTo"} @@ -189919,10 +193002,12 @@ property_value: IAO:0000589 "pili torti (disease)" xsd:string id: MONDO:0009871 name: pili torti-developmental delay-neurological abnormalities syndrome def: "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." [Orphanet:2891] +subset: gard_rare {source="GARD:4362"} subset: ordo_malformation_syndrome {source="Orphanet:2891"} synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:261990, OMIM:genemap2] synonym: "pili torti and developmental delay" RELATED [OMIM:261990] synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362] +xref: GARD:4362 {source="Orphanet:2891"} xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"} @@ -189935,7 +193020,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009872 name: Bjornstad syndrome def: "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." [https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome] -subset: gard_rare {source="GARD:0000022"} +subset: gard_rare {source="GARD:22"} subset: ordo_disease {source="Orphanet:123"} synonym: "Bjornstad syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:262000] synonym: "BJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262000] @@ -189948,6 +193033,7 @@ synonym: "PTD" RELATED ABBREVIATION [OMIM:262000] synonym: "PTND" RELATED ABBREVIATION [GARD:0000022] xref: DOID:0050677 {source="MONDO:equivalentTo"} xref: EFO:0002779 {source="MONDO:equivalentTo"} +xref: GARD:22 {source="Orphanet:123"} xref: MESH:C537633 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="Orphanet:123"} xref: OMIM:262000 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="DOID:0050677", source="Orphanet:123"} xref: Orphanet:123 {source="MONDO:equivalentTo", source="OMIM:262000"} @@ -189963,11 +193049,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/22/bjornstad id: MONDO:0009873 name: pilodental dysplasia-refractive errors syndrome def: "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." [Orphanet:2892] +subset: gard_rare {source="GARD:277"} subset: ordo_malformation_syndrome {source="Orphanet:2892"} synonym: "Euhidrotic ectodermal dysplasia" EXACT [Orphanet:2892] synonym: "Kopysc-Barczyk-Krol syndrome" EXACT [Orphanet:2892] synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020] synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020] +xref: GARD:277 {source="Orphanet:2892"} xref: MESH:C535763 {source="MONDO:equivalentTo"} xref: OMIM:262020 {source="Orphanet:2892", source="MONDO:equivalentTo", source="Orphanet:2892/e"} xref: Orphanet:2892 {source="MONDO:equivalentTo", source="OMIM:262020"} @@ -189979,11 +193067,12 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009874 name: Rabson-Mendenhall syndrome def: "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." [Orphanet:769] -subset: gard_rare {source="GARD:0000226"} +subset: gard_rare {source="GARD:226"} subset: ordo_malformation_syndrome {source="Orphanet:769"} synonym: "Mendenhall syndrome" RELATED [OMIM:262190] synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190] synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190] +xref: GARD:226 {source="Orphanet:769"} xref: ICD10CM:E13 {source="Orphanet:769", source="Orphanet:769/attributed", source="Orphanet:769/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056731 {source="Orphanet:769", source="MONDO:directSiblingOf", source="Orphanet:769/e"} @@ -190004,6 +193093,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/226/rabson-m id: MONDO:0009875 name: achromatopsia 3 def: "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9650"} synonym: "ACHM1" EXACT ABBREVIATION [DOID:0110008] synonym: "ACHM1 (formerly)" RELATED [GARD:0009650] synonym: "ACHM1, formerly" RELATED [OMIM:262300] @@ -190024,6 +193114,7 @@ synonym: "Rod monochromatism 1 (formerly)" RELATED [GARD:0009650] synonym: "rod monochromatism 1, formerly" RELATED [OMIM:262300] synonym: "total colorblindness with myopia" RELATED [OMIM:262300] xref: DOID:0110008 {source="MONDO:equivalentTo"} +xref: GARD:9650 {source="OMIM:262300"} xref: OMIM:262300 {source="DOID:0110008", source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="OMIM:262300"} xref: UMLS:C1849792 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:262300"} @@ -190038,7 +193129,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009876 name: isolated growth hormone deficiency type IA def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." [DOID:0060873, PMID:16060904, PMID:8288694] -subset: gard_rare +subset: gard_rare {source="GARD:7399"} subset: ordo_clinical_subtype {source="Orphanet:231662"} synonym: "autosomal recessive isolated growth hormone deficiency" EXACT [DOID:0060873] synonym: "congenital IGHD" RELATED [GARD:0007399] @@ -190066,6 +193157,7 @@ synonym: "pituitary dwarfism I" EXACT [DOID:0060873] synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] xref: DOID:0060873 {source="MONDO:equivalentTo"} +xref: GARD:7399 {source="Orphanet:231662"} xref: ICD10CM:E23.0 {source="Orphanet:231662/attributed", source="Orphanet:231662/ntbt", source="DOID:0060873", source="Orphanet:231662"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537404 {source="MONDO:equivalentTo"} @@ -190083,6 +193175,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7399/isolate id: MONDO:0009877 name: Laron syndrome def: "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." [Orphanet:633] +subset: gard_rare {source="GARD:6859"} subset: ordo_disease {source="Orphanet:633"} synonym: "complete growth hormone insensitivity" EXACT [Orphanet:633] synonym: "GH receptor deficiency" EXACT [Orphanet:633] @@ -190101,6 +193194,7 @@ synonym: "primary growth hormone insensitivity" EXACT [Orphanet:633] synonym: "primary growth hormone resistance" EXACT [Orphanet:633] synonym: "short stature due to growth hormone resistance" EXACT [Orphanet:633] xref: DOID:9521 {source="MONDO:equivalentTo"} +xref: GARD:6859 {source="Orphanet:633"} xref: ICD10CM:E34.3 {source="Orphanet:633/attributed", source="Orphanet:633/ntbt", source="Orphanet:633", source="DOID:9521"} xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"} xref: NCIT:C130994 {source="MONDO:equivalentTo"} @@ -190119,6 +193213,7 @@ property_value: confidence "3.2222222222222214" xsd:double id: MONDO:0009878 name: pituitary hormone deficiency, combined, 2 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15222"} synonym: "ateliotic dwarfism with hypogonadism" RELATED [OMIM:262600] synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1" EXACT [MONDO:design_pattern] synonym: "CPHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262600] @@ -190128,6 +193223,7 @@ synonym: "pituitary dwarfism 3" RELATED [OMIM:262600] synonym: "pituitary hormone deficiency, combined, 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:262600] synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1, OMIM:262600] synonym: "PROP1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15222 {source="OMIM:262600"} xref: MESH:C563172 {source="MONDO:equivalentTo"} xref: OMIM:262600 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="OMIM:262600"} @@ -190144,11 +193240,13 @@ property_value: confidence "1.1441176470588243" xsd:double id: MONDO:0009879 name: short stature due to growth hormone qualitative anomaly def: "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." [Orphanet:629] +subset: gard_rare {source="GARD:408"} subset: ordo_clinical_subtype {source="Orphanet:629"} synonym: "Biodefective Growth hormone" RELATED [OMIM:262650] synonym: "KOWARSKI syndrome" RELATED [OMIM:262650] synonym: "Kowarski syndrome" EXACT [Orphanet:629] synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650] +xref: GARD:408 {source="Orphanet:629"} xref: ICD10CM:E23.0 {source="Orphanet:629", source="Orphanet:629/attributed", source="Orphanet:629/ntbt"} xref: MESH:C537505 {source="MONDO:equivalentTo"} xref: OMIM:262650 {source="MONDO:equivalentTo", source="Orphanet:629", source="Orphanet:629/e"} @@ -190163,6 +193261,7 @@ property_value: confidence "2.291666666666666" xsd:double id: MONDO:0009880 name: short stature-pituitary and cerebellar defects-small sella turcica syndrome def: "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." [Orphanet:85442] +subset: gard_rare {source="GARD:10604"} subset: ordo_disease {source="Orphanet:85442"} synonym: "CPHD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262700] synonym: "pituitary hormone deficiency, combined 4" RELATED [GARD:0010604] @@ -190172,6 +193271,7 @@ synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1, OM synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [OMIM:262700] synonym: "short stature, pituitary and cerebellar defects and small sella turcica" RELATED [GARD:0010604] synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700] +xref: GARD:10604 {source="Orphanet:85442"} xref: MESH:C567492 {source="MONDO:equivalentTo"} xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="Orphanet:85442/e"} xref: Orphanet:85442 {source="OMIM:262700", source="MONDO:equivalentTo"} @@ -190185,7 +193285,6 @@ property_value: confidence "1.1441176470588243" xsd:double [Term] id: MONDO:0009881 name: pituitary dwarfism with large sella turcica -subset: gard_rare {source="GARD:0010607"} synonym: "pituitary dwarfism with large sella turcica" EXACT [OMIM:262710] xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562705 {source="MONDO:equivalentTo"} @@ -190208,6 +193307,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009883 name: alpha-2-plasmin inhibitor deficiency def: "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." [Orphanet:79] +subset: gard_rare {source="GARD:731"} subset: ordo_disease {source="Orphanet:79"} synonym: "alpha-2-plasmin inhibitor deficiency" EXACT CLINGEN_PREFERRED [OMIM:262850] synonym: "anti-plasmin deficiency, congenital" RELATED [GARD:0000731] @@ -190217,6 +193317,7 @@ synonym: "antiplasmin defiency" EXACT [DOID:0060601] synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79] synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601, OMIM:262850] xref: DOID:0060601 {source="MONDO:equivalentTo"} +xref: GARD:731 {source="Orphanet:79"} xref: ICD10CM:D68.8 {source="Orphanet:79/attributed", source="Orphanet:79/ntbt", source="Orphanet:79", source="DOID:0060601"} xref: MESH:C537777 {source="MONDO:equivalentTo"} xref: OMIM:262850 {source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601", source="Orphanet:79/e"} @@ -190242,7 +193343,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009885 name: Scott syndrome def: "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." [Orphanet:806] -subset: gard_rare {source="GARD:0004777"} +subset: gard_rare {source="GARD:4777"} subset: ordo_disease {source="Orphanet:806"} synonym: "BDPLT7" EXACT ABBREVIATION [DOID:0111052] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [DOID:0111052] @@ -190258,6 +193359,7 @@ synonym: "prothrombin conversion defect, familial" RELATED [OMIM:262890] synonym: "Scott syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:262890] synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890] xref: DOID:0111052 {source="MONDO:equivalentTo"} +xref: GARD:4777 {source="Orphanet:806"} xref: ICD10CM:D69.8 {source="DOID:0111052", source="Orphanet:806/attributed", source="Orphanet:806/ntbt", source="Orphanet:806"} xref: MESH:C563120 {source="MONDO:equivalentTo"} xref: OMIM:262890 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="Orphanet:806"} @@ -190273,7 +193375,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4777/scott-s [Term] id: MONDO:0009886 name: pleoconial myopathy with salt craving -subset: gard_rare {source="GARD:0010318"} synonym: "pleoconial myopathy with salt craving" EXACT [OMIM:262900] xref: MESH:C564883 {source="MONDO:equivalentTo"} xref: OMIM:262900 {source="MONDO:equivalentTo"} @@ -190285,6 +193386,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10318/pleoco id: MONDO:0009887 name: desquamative interstitial pneumonia def: "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." [NCIT:P378] +subset: gard_rare {source="GARD:18205", source="GARD:16864"} subset: ordo_disease {source="Orphanet:98852"} synonym: "desquamative interstitial pneumonia" EXACT [MONDO:0020335] synonym: "DIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263000] @@ -190298,6 +193400,8 @@ synonym: "RBILD" EXACT ABBREVIATION [DOID:0050158] synonym: "respiratory bronchiolitis interstitial lung disease" EXACT [NCIT:C35288] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [DOID:0050158] xref: DOID:0050158 {source="MONDO:equivalentTo"} +xref: GARD:16864 {source="Orphanet:98852"} +xref: GARD:18205 {source="OMIM:263000"} xref: ICD10CM:J84.1 {source="Orphanet:98852/ntbt", source="Orphanet:98852"} xref: ICD10CM:J84.115 {source="DOID:0050158"} xref: ICD10CM:J84.117 {source="DOID:0050158"} @@ -190326,6 +193430,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009889 name: autosomal recessive polycystic kidney disease def: "An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." [Orphanet:731] +subset: gard_rare {source="GARD:8378"} subset: ordo_disease {source="Orphanet:731"} synonym: "AR-PKD" EXACT [Orphanet:731] synonym: "ARPKD" EXACT ABBREVIATION [DOID:0110861, MONDO:Lexical] @@ -190336,6 +193441,7 @@ synonym: "polycystic kidney disease, autosomal recessive" EXACT [MONDO:Lexical, synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579] synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861] xref: DOID:0110861 {source="MONDO:equivalentTo"} +xref: GARD:8378 {source="Orphanet:731"} xref: ICD10CM:Q61.1 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861", source="Orphanet:731/specific"} xref: ICD9:753.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036047 {source="Orphanet:731", source="Orphanet:731/e"} @@ -190357,10 +193463,12 @@ property_value: confidence "32.73015873015873" xsd:double [Term] id: MONDO:0009890 name: Gillessen-Kaesbach-Nishimura syndrome +subset: gard_rare {source="GARD:15223"} synonym: "GIKANIS" RELATED ABBREVIATION [OMIM:263210] synonym: "Gillessen-Kaesbach-Nishimura syndrome" EXACT [OMIM:263210] synonym: "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210] synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210] +xref: GARD:15223 {source="OMIM:263210"} xref: MESH:C564881 {source="MONDO:equivalentTo"} xref: OMIM:263210 {source="MONDO:equivalentTo"} xref: Orphanet:79328 {source="OMIM:263210"} @@ -190373,6 +193481,7 @@ property_value: confidence "0.14285714285714302" xsd:double id: MONDO:0009891 name: acquired polycythemia vera def: "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." [Orphanet:729] +subset: gard_rare {source="GARD:7422"} subset: ordo_disease {source="Orphanet:729"} synonym: "acquired primary erythrocytosis" EXACT [Orphanet:729] synonym: "Osler-Vaquez disease" EXACT [Orphanet:729] @@ -190388,6 +193497,7 @@ synonym: "PV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263300, Orphanet:729] synonym: "Vaquez disease" EXACT [Orphanet:729] xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"} xref: EFO:0002429 {source="MONDO:equivalentTo"} +xref: GARD:7422 {source="Orphanet:729"} xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:D45 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729"} xref: ICD9:238.4 {source="DOID:8997", source="EFO:0002429"} @@ -190417,6 +193527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009892 name: Chuvash polycythemia def: "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." [Orphanet:238557] +subset: gard_rare {source="GARD:17176"} subset: ordo_disease {source="Orphanet:238557"} synonym: "autosomal recessive benign erythrocytosis" EXACT [DOID:0060474] synonym: "Chuvash erythrocytosis" RELATED [Orphanet:238557] @@ -190434,6 +193545,7 @@ synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400] synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557] xref: DOID:0060474 {source="MONDO:equivalentTo"} +xref: GARD:17176 {source="Orphanet:238557"} xref: ICD10CM:D75.1 {source="Orphanet:238557/attributed", source="Orphanet:238557/ntbt", source="DOID:0060474", source="Orphanet:238557"} xref: MESH:C563918 {source="MONDO:equivalentTo"} xref: OMIM:263400 {source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo", source="Orphanet:238557/e"} @@ -190449,8 +193561,10 @@ property_value: confidence "13.769230769230768" xsd:double [Term] id: MONDO:0009893 name: polydactyly, postaxial, type A5 +subset: gard_rare {source="GARD:18172"} synonym: "PAPA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263450] synonym: "polydactyly, postaxial, type A5" EXACT [MONDO:Lexical, OMIM:263450] +xref: GARD:18172 {source="OMIM:263450"} xref: OMIM:263450 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:263450"} xref: UMLS:C3550661 {source="MONDO:equivalentTo", source="OMIM:263450", source="MONDO:ncbi_mim2gene_medline"} @@ -190461,6 +193575,7 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0009894 name: short-rib thoracic dysplasia 6 with or without polydactyly def: "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." [NCIT:C122654] +subset: gard_rare {source="GARD:15224"} synonym: "Majewski syndrome" EXACT [DOID:0110092, OMIM:263520] synonym: "polydactyly with neonatal chondrodystrophy type II" EXACT [NCIT:C122654] synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [OMIM:263520] @@ -190474,6 +193589,7 @@ synonym: "Srps, type 2" RELATED [OMIM:263520] synonym: "SRPS2A" EXACT ABBREVIATION [DOID:0110092] synonym: "SRTD6" EXACT ABBREVIATION [DOID:0110092, MONDO:Lexical, OMIM:263520] xref: DOID:0110092 {source="MONDO:equivalentTo"} +xref: GARD:15224 {source="OMIM:263520"} xref: ICD10CM:Q77.2 {source="DOID:0110092"} xref: NCIT:C122654 {source="MONDO:equivalentTo"} xref: OMIM:263520 {source="DOID:0110092", source="MONDO:equivalentTo"} @@ -190491,8 +193607,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009895 name: postaxial polydactyly-dental and vertebral anomalies syndrome def: "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." [Orphanet:2916] +subset: gard_rare {source="GARD:16614"} subset: ordo_malformation_syndrome {source="Orphanet:2916"} synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540] +xref: GARD:16614 {source="Orphanet:2916"} xref: ICD10CM:Q87.2 {source="Orphanet:2916/attributed", source="Orphanet:2916/ntbt", source="Orphanet:2916"} xref: MESH:C564880 {source="MONDO:equivalentTo"} xref: OMIM:263540 {source="Orphanet:2916/e", source="MONDO:equivalentTo", source="Orphanet:2916"} @@ -190515,13 +193633,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009897 name: adult polyglucosan body disease def: "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." [Orphanet:206583] -subset: gard_rare {source="GARD:0000108"} +subset: gard_rare {source="GARD:108"} subset: ordo_clinical_subtype {source="Orphanet:206583"} synonym: "APBD" EXACT ABBREVIATION [Orphanet:206583] synonym: "APBN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263570] synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108] synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570] synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570] +xref: GARD:108 {source="Orphanet:206583"} xref: ICD10CM:E74.0 {source="Orphanet:206583/attributed", source="Orphanet:206583/ntbt", source="Orphanet:206583"} xref: MESH:C564878 {source="MONDO:equivalentTo"} xref: OMIM:263570 {source="Orphanet:206583/e", source="MONDO:equivalentTo", source="Orphanet:206583"} @@ -190560,10 +193679,12 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0009900 name: polysyndactyly-cardiac malformation syndrome def: "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." [Orphanet:2934] +subset: gard_rare {source="GARD:4428"} subset: ordo_malformation_syndrome {source="Orphanet:2934"} synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934] synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428] synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630] +xref: GARD:4428 {source="Orphanet:2934"} xref: ICD10CM:Q87.8 {source="Orphanet:2934/attributed", source="Orphanet:2934/ntbt", source="Orphanet:2934"} xref: MESH:C564875 {source="MONDO:equivalentTo"} xref: OMIM:263630 {source="Orphanet:2934/e", source="MONDO:equivalentTo", source="Orphanet:2934"} @@ -190579,6 +193700,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009901 name: Bartsocas-Papas syndrome 1 def: "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." [https://orcid.org/0000-0001-5208-3432, Orphanet:1234] +subset: gard_rare {source="GARD:10570", source="GARD:4436"} subset: ordo_malformation_syndrome {source="Orphanet:1234"} synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [Orphanet:1234] synonym: "Bartsocas Papas syndrome" EXACT [GARD:0004436] @@ -190592,6 +193714,8 @@ synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1" EXACT [OMIM:2636 synonym: "popliteal pterygium syndrome, lethal type" EXACT [OMIM:263650] synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436] synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650] +xref: GARD:10570 {source="OMIM:263650"} +xref: GARD:4436 {source="Orphanet:1234"} xref: ICD10CM:Q87.2 {source="Orphanet:1234/attributed", source="Orphanet:1234/ntbt", source="Orphanet:1234"} xref: MESH:C564874 {source="MONDO:equivalentTo"} xref: NCIT:C168990 {source="MONDO:equivalentTo"} @@ -190610,6 +193734,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009902 name: cutaneous porphyria def: "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." [Orphanet:79277] +subset: gard_rare {source="GARD:4446"} subset: ordo_disease {source="Orphanet:79277"} synonym: "CEP" EXACT ABBREVIATION [Orphanet:79277] synonym: "Cep" RELATED [OMIM:263700] @@ -190624,6 +193749,7 @@ synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [OMIM:263700] synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446] synonym: "Uros deficiency" RELATED [OMIM:263700] xref: DOID:13271 {source="MONDO:equivalentTo"} +xref: GARD:4446 {source="Orphanet:79277"} xref: ICD10CM:E80.0 {source="DOID:13271", source="Orphanet:79277/inclusion", source="Orphanet:79277/ntbt", source="Orphanet:79277"} xref: MESH:D017092 {source="DOID:13271", source="MONDO:equivalentTo"} xref: NCIT:C84697 {source="DOID:13271", source="MONDO:equivalentTo"} @@ -190644,6 +193770,7 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0009903 name: postaxial acrofacial dysostosis def: "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." [Orphanet:246] +subset: gard_rare {source="GARD:8410"} subset: ordo_malformation_syndrome {source="Orphanet:246"} synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [Orphanet:246] synonym: "Genee-Wiedemann acrofacial dysostosis" RELATED [GARD:0008410] @@ -190658,6 +193785,7 @@ synonym: "postaxial acrofacial dysostosis" EXACT CLINGEN_PREFERRED [MONDO:Lexica synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:0008410] synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410] xref: DOID:0111259 {source="MONDO:equivalentTo"} +xref: GARD:8410 {source="Orphanet:246"} xref: ICD10CM:Q75.4 {source="Orphanet:246", source="Orphanet:246/attributed", source="Orphanet:246/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537680 {source="MONDO:equivalentTo"} @@ -190678,7 +193806,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009904 name: Gitelman syndrome def: "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." [Orphanet:358] -subset: gard_rare {source="GARD:0008547"} +subset: gard_rare {source="GARD:8547"} subset: ordo_disease {source="Orphanet:358"} synonym: "familial hypokalemia-hypomagnesemia" RELATED [GARD:0008547] synonym: "Gitelman syndrome" EXACT CLINGEN_PREFERRED [OMIM:263800] @@ -190688,6 +193816,7 @@ synonym: "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" E synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800] synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358] xref: DOID:0050450 {source="MONDO:equivalentTo"} +xref: GARD:8547 {source="Orphanet:358"} xref: ICD10CM:N15.8 {source="Orphanet:358/attributed", source="Orphanet:358/ntbt", source="Orphanet:358"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062906 {source="Orphanet:358", source="Orphanet:358/e"} @@ -190710,11 +193839,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8547/gitelma id: MONDO:0009905 name: urban-Rogers-Meyer syndrome def: "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." [Orphanet:3409] +subset: gard_rare {source="GARD:5426"} subset: ordo_malformation_syndrome {source="Orphanet:3409"} synonym: "intellectual disability-short stature-hand contractures-genital anomalies syndrome" EXACT [Orphanet:3409] synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264010] synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409] synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010] +xref: GARD:5426 {source="Orphanet:3409"} xref: ICD10CM:Q87.8 {source="Orphanet:3409/attributed", source="Orphanet:3409/ntbt", source="Orphanet:3409"} xref: MESH:C538276 {source="MONDO:equivalentTo"} xref: OMIM:264010 {source="Orphanet:3409/e", source="MONDO:equivalentTo", source="Orphanet:3409"} @@ -190730,7 +193861,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009906 name: prenatal bowing +subset: gard_rare {source="GARD:15225"} synonym: "prenatal bowing" EXACT [OMIM:264050] +xref: GARD:15225 {source="OMIM:264050"} xref: MESH:C564873 {source="MONDO:equivalentTo"} xref: OMIM:264050 {source="MONDO:equivalentTo"} xref: Orphanet:2292 {source="OMIM:264050"} @@ -190754,6 +193887,7 @@ id: MONDO:0009908 name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency def: "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." [Orphanet:1578] comment: This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. +subset: gard_rare {source="GARD:2843"} subset: ordo_clinical_subtype {source="Orphanet:1578"} synonym: "CADH deficiency" EXACT [OMIM:264070, Orphanet:1578] synonym: "dehydratase deficiency" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/40011/, Orphanet:1578] @@ -190771,6 +193905,7 @@ synonym: "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" EXACT CLINGEN_P synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843] xref: DOID:0081131 {source="MONDO:equivalentTo"} +xref: GARD:2843 {source="Orphanet:1578"} xref: ICD10CM:E70.1 {source="Orphanet:1578", source="Orphanet:1578/attributed", source="Orphanet:1578/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538382 {source="MONDO:equivalentTo"} @@ -190799,6 +193934,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009910 name: Wiedemann-Rautenstrauch syndrome def: "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." [Orphanet:3455] +subset: gard_rare {source="GARD:330"} subset: ordo_malformation_syndrome {source="Orphanet:3455"} synonym: "neonatal progeroid syndrome" EXACT [Orphanet:3455] synonym: "progeroid syndrome neonatal" RELATED [GARD:0000330] @@ -190806,6 +193942,7 @@ synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090] synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330] synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090] xref: DOID:0081333 {source="MONDO:equivalentTo"} +xref: GARD:330 {source="Orphanet:3455"} xref: ICD10CM:E34.8 {source="Orphanet:3455", source="Orphanet:3455/attributed", source="Orphanet:3455/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536423 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"} @@ -190864,10 +194001,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009914 name: pseudodiastrophic dysplasia def: "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." [Orphanet:85174] -subset: gard_rare {source="GARD:0009463"} +subset: gard_rare {source="GARD:9463"} subset: ordo_malformation_syndrome {source="Orphanet:85174"} synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463] synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180] +xref: GARD:9463 {source="Orphanet:85174"} xref: ICD10CM:Q78.8 {source="Orphanet:85174/attributed", source="Orphanet:85174/ntbt", source="Orphanet:85174"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535826 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} @@ -190888,9 +194026,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9463/pseudod [Term] id: MONDO:0009915 name: 46,XX disorder of sex development-skeletal anomalies syndrome +subset: gard_rare {source="GARD:16617"} subset: ordo_malformation_syndrome {source="Orphanet:2975"} synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975] synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270] +xref: GARD:16617 {source="Orphanet:2975"} xref: ICD10CM:Q56.2 {source="Orphanet:2975", source="Orphanet:2975/attributed", source="Orphanet:2975/ntbt"} xref: MESH:C564869 {source="MONDO:equivalentTo"} xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="Orphanet:2975/e"} @@ -190903,6 +194043,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0009916 name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency def: "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [NCIT:C120203] +subset: gard_rare {source="GARD:5659"} subset: ordo_disease {source="Orphanet:752"} synonym: "17 alpha ketosteroid reductase deficiency of testis" RELATED [GARD:0005659] synonym: "17 alpha KSR deficiency" RELATED [GARD:0005659] @@ -190926,6 +194067,7 @@ synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300] xref: DOID:0112248 {source="MONDO:equivalentTo"} +xref: GARD:5659 {source="Orphanet:752"} xref: ICD10CM:E29.1 {source="Orphanet:752", source="Orphanet:752/attributed", source="Orphanet:752/ntbt"} xref: MESH:C537805 {source="MONDO:equivalentTo"} xref: MESH:C564868 {source="MONDO:equivalentTo"} @@ -190949,7 +194091,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009917 name: autosomal recessive pseudohypoaldosteronism type 1 def: "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." [Orphanet:171876] -subset: gard_rare {source="GARD:0004552"} +subset: gard_rare {source="GARD:4552"} subset: ordo_clinical_subtype {source="Orphanet:171876"} synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854] synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876] @@ -190963,6 +194105,7 @@ synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004 synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552] synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350] xref: DOID:0060854 {source="MONDO:equivalentTo"} +xref: GARD:4552 {source="Orphanet:171876"} xref: ICD10CM:N25.8 {source="Orphanet:171876/attributed", source="Orphanet:171876/ntbt", source="DOID:0060854", source="Orphanet:171876"} xref: MESH:D011546 {source="DOID:0060854"} xref: OMIM:264350 {source="Orphanet:171876/e", source="MONDO:equivalentTo", source="DOID:0060854", source="Orphanet:171876"} @@ -190977,12 +194120,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4552/autosom [Term] id: MONDO:0009918 name: fundus dystrophy, pseudoinflammatory, recessive form +subset: gard_rare {source="GARD:9633"} synonym: "fundus dystrophy, pseudoinflammatory recessive form" RELATED [GARD:0009633] synonym: "fundus dystrophy, pseudoinflammatory, recessive form" EXACT [OMIM:264420] synonym: "PFD Lavia type" RELATED [GARD:0009633] synonym: "Pfd, Finnish type" RELATED [OMIM:264420] synonym: "Pfd, Lavia type" RELATED [OMIM:264420] synonym: "pseudoinflammatory fundus dystrophy" RELATED [GARD:0009633] +xref: GARD:9633 {source="OMIM:264420"} xref: MESH:C535828 {source="MONDO:equivalentTo"} xref: OMIM:264420 {source="MONDO:equivalentTo"} xref: Orphanet:59181 {source="OMIM:264420"} @@ -190994,6 +194139,7 @@ property_value: confidence "1.6470588235294117" xsd:double id: MONDO:0009919 name: peroxisomal acyl-CoA oxidase deficiency def: "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [Orphanet:2971] +subset: gard_rare {source="GARD:4543"} subset: ordo_disease {source="Orphanet:2971"} synonym: "ACOX1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT CLINGEN_PREFERRED [OMIM:264470] @@ -191004,6 +194150,7 @@ synonym: "Pseudoadrenoleukodystrophy" EXACT [Orphanet:2971] synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470] synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470] xref: DOID:0050797 {source="MONDO:equivalentTo"} +xref: GARD:4543 {source="Orphanet:2971"} xref: ICD10CM:E71.3 {source="Orphanet:2971", source="Orphanet:2971/attributed", source="Orphanet:2971/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536662 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} @@ -191022,11 +194169,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009920 name: Acrootoocular syndrome def: "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." [Orphanet:2980] +subset: gard_rare {source="GARD:4559"} subset: ordo_malformation_syndrome {source="Orphanet:2980"} synonym: "acrootoocular syndrome" EXACT [OMIM:264475] synonym: "Aoo syndrome" RELATED [OMIM:264475] synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475] synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980] +xref: GARD:4559 {source="Orphanet:2980"} xref: ICD10CM:Q87.0 {source="Orphanet:2980", source="Orphanet:2980/attributed", source="Orphanet:2980/ntbt"} xref: MESH:C564866 {source="MONDO:equivalentTo"} xref: OMIM:264475 {source="Orphanet:2980", source="MONDO:equivalentTo", source="Orphanet:2980/e"} @@ -191041,6 +194190,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009921 name: holoprosencephaly-postaxial polydactyly syndrome def: "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." [Orphanet:2166] +subset: gard_rare {source="GARD:344"} subset: ordo_malformation_syndrome {source="Orphanet:2166"} synonym: "holoprosencephaly polydactyly syndrome" RELATED [GARD:0000344] synonym: "holoprosencephaly-polydactyly syndrome" RELATED [OMIM:264480] @@ -191048,6 +194198,7 @@ synonym: "pseudo trisomy 13 syndrome" RELATED [GARD:0000344] synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166] synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480] synonym: "Young-Maders syndrome" RELATED [GARD:0000344] +xref: GARD:344 {source="Orphanet:2166"} xref: ICD10CM:Q87.8 {source="Orphanet:2166", source="Orphanet:2166/attributed", source="Orphanet:2166/ntbt"} xref: MESH:C535829 {source="MONDO:equivalentTo"} xref: NCIT:C125418 {source="MONDO:equivalentTo"} @@ -191075,6 +194226,7 @@ is_a: MONDO:0003847 {source="MESH:C564864/inferred"} ! hereditary disease id: MONDO:0009923 name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency def: "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." [Orphanet:753] +subset: gard_rare {source="GARD:5680"} subset: ordo_disease {source="Orphanet:753"} synonym: "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" EXACT [NCIT:C98699] synonym: "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" EXACT CLINGEN_PREFERRED [] @@ -191088,6 +194240,7 @@ synonym: "micropenis" RELATED [OMIM:264600] synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264600] synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753] synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753] +xref: GARD:5680 {source="Orphanet:753"} xref: ICD10CM:Q56.1 {source="Orphanet:753", source="Orphanet:753/attributed", source="Orphanet:753/ntbt"} xref: MedDRA:10000029 {source="Orphanet:753", source="Orphanet:753/e"} xref: MESH:C535830 {source="MONDO:equivalentTo"} @@ -191110,6 +194263,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009924 name: vitamin D-dependent rickets, type 1 def: "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." [Orphanet:289157] +subset: gard_rare {source="GARD:17319"} subset: ordo_disease {source="Orphanet:289157"} synonym: "1 Alpha-hydroxylase deficiency" EXACT [NCIT:C131073] synonym: "1-alpha-hydroxylase deficiency" EXACT [Orphanet:289157] @@ -191126,6 +194280,7 @@ synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073] +xref: GARD:17319 {source="Orphanet:289157"} xref: ICD10CM:E55.0 {source="Orphanet:289157/attributed", source="Orphanet:289157/ntbt", source="Orphanet:289157"} xref: MESH:C562688 {source="MONDO:equivalentTo"} xref: NCIT:C131073 {source="MONDO:equivalentTo"} @@ -191140,7 +194295,7 @@ is_a: MONDO:0024299 {source="MONDO:cjm"} ! vitamin D-dependent rickets id: MONDO:0009925 name: autosomal recessive inherited pseudoxanthoma elasticum def: "An autosomal recessive form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] -subset: gard_rare {source="GARD:0009643"} +subset: gard_rare {source="GARD:9643"} subset: ordo_disease {source="Orphanet:758"} synonym: "AR inherited pseudoxanthoma elasticum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6601-2165] synonym: "Gronblad Strandberg syndrome" RELATED [GARD:0009643] @@ -191151,6 +194306,7 @@ synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:26480 synonym: "PXE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264800, Orphanet:758] synonym: "PXE, modifier of severity of" RELATED [OMIM:264800] xref: DOID:2738 {source="MONDO:equivalentTo"} +xref: GARD:9643 {source="Orphanet:758"} xref: ICD10CM:Q82.8 {source="Orphanet:758", source="Orphanet:758/index", source="Orphanet:758/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037150 {source="Orphanet:758", source="Orphanet:758/e"} @@ -191189,7 +194345,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudox id: MONDO:0009926 name: autosomal recessive multiple pterygium syndrome def: "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." [NCIT:C101039] -subset: gard_rare +subset: gard_rare {source="GARD:7111"} subset: ordo_malformation_syndrome {source="Orphanet:2990"} synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111] synonym: "autosomal recessive non-lethal multiple pterygium syndrome" EXACT [Orphanet:2990] @@ -191206,6 +194362,7 @@ synonym: "pterygium colli syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "pterygium Universale" RELATED [OMIM:265000] synonym: "pterygium universale" RELATED [GARD:0007111] +xref: GARD:7111 {source="Orphanet:2990"} xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="Orphanet:2990/attributed", source="Orphanet:2990/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101039 {source="MONDO:equivalentTo"} @@ -191227,6 +194384,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7111/multipl id: MONDO:0009927 name: 3MC syndrome 2 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18428"} synonym: "3MC syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:265050] synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1] @@ -191240,6 +194398,7 @@ synonym: "Osa syndrome" RELATED [OMIM:265050] synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050] xref: DOID:0060576 {source="MONDO:equivalentTo"} xref: EFO:1001977 {source="MONDO:equivalentTo"} +xref: GARD:18428 {source="OMIM:265050"} xref: MESH:C535586 {source="MONDO:equivalentTo"} xref: OMIM:265050 {source="DOID:0060576", source="MONDO:equivalentTo"} xref: Orphanet:293843 {source="OMIM:265050"} @@ -191255,10 +194414,11 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0009928 name: pulmonary alveolar microlithiasis def: "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis] -subset: gard_rare {source="GARD:0011894"} +subset: gard_rare {source="GARD:11894"} subset: ordo_disease {source="Orphanet:60025"} synonym: "pulmonary alveolar microlithiasis" EXACT CLINGEN_PREFERRED [OMIM:265100] xref: DOID:12117 {source="MONDO:equivalentTo"} +xref: GARD:11894 {source="Orphanet:60025"} xref: ICD10CM:J84.0 {source="Orphanet:60025/ntbt", source="Orphanet:60025/inclusion", source="Orphanet:60025"} xref: ICD10CM:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"} xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -191279,7 +194439,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11894/pulmon [Term] id: MONDO:0009929 name: neonatal acute respiratory distress due to SP-B deficiency -subset: gard_rare +subset: gard_rare {source="GARD:17126"} subset: ordo_disease {source="Orphanet:217563"} synonym: "interstitial lung disease due to surfactant Protein B deficiency" EXACT [OMIM:265120] synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [OMIM:265120] @@ -191289,6 +194449,7 @@ synonym: "pulmonary surfactant protein B, deficiency of" RELATED [GARD:0004595] synonym: "SMDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, 1" EXACT [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120] +xref: GARD:17126 {source="Orphanet:217563"} xref: ICD10CM:P28.0 {source="Orphanet:217563/ntbt", source="Orphanet:217563", source="Orphanet:217563/index"} xref: MESH:C566882 {source="MONDO:equivalentTo"} xref: OMIM:265120 {source="Orphanet:217563/e", source="MONDO:equivalentTo", source="Orphanet:217563"} @@ -191306,6 +194467,7 @@ id: MONDO:0009930 name: obsolete pulmonary arteriovenous malformation def: "OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." [Orphanet:2038] comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0006548 +subset: gard_rare {source="GARD:4584"} subset: ordo_morphological_anomaly {source="Orphanet:2038"} synonym: "arteriovenous fistula of pulmonary vessels" EXACT [NCIT:C99029] synonym: "PAVM" EXACT ABBREVIATION [Orphanet:2038] @@ -191316,6 +194478,7 @@ synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140] synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous] synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary AV fistula" EXACT [NCIT:C99029] +xref: GARD:4584 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038"} xref: HP:0006548 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.7 {source="Orphanet:2038/ntbt", source="Orphanet:2038"} xref: MedDRA:10037332 {source="Orphanet:2038", source="Orphanet:2038/e"} @@ -191336,9 +194499,11 @@ consider: HP:0006548 id: MONDO:0009931 name: pulmonary atresia-intact ventricular septum syndrome def: "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." [Orphanet:1208] +subset: gard_rare {source="GARD:4600"} subset: ordo_morphological_anomaly {source="Orphanet:1208"} synonym: "pulmonary atresia with intact ventricular septum" RELATED [OMIM:265150] synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [NCIT:C99032] +xref: GARD:4600 {source="Orphanet:1208"} xref: ICD10CM:Q22.6 {source="Orphanet:1208", source="Orphanet:1208/ntbt"} xref: MESH:C562832 {source="MONDO:equivalentTo"} xref: NCIT:C99032 {source="MONDO:equivalentTo"} @@ -191363,7 +194528,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009933 name: congenital pulmonary lymphangiectasia def: "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." [Orphanet:2414] -subset: gard_rare {source="GARD:0009900"} +subset: gard_rare {source="GARD:9900"} subset: ordo_disease {source="Orphanet:2414"} synonym: "congenital pulmonary lymphangiectasis" EXACT [NCIT:C99034] synonym: "CPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265300] @@ -191373,6 +194538,7 @@ synonym: "lymphangiomatosis pulmonary" RELATED [GARD:0009900] synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300] synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300] synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414] +xref: GARD:9900 {source="Orphanet:2414"} xref: ICD10CM:Q33.8 {source="Orphanet:2414", source="Orphanet:2414/attributed", source="Orphanet:2414/ntbt"} xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: NCIT:C99034 {source="MONDO:equivalentTo"} @@ -191395,7 +194561,7 @@ id: MONDO:0009934 name: alveolar capillary dysplasia with misalignment of pulmonary veins def: "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." [Orphanet:210122] comment: Editor note: MESH and NCIT split this, see NCIT:C98809 -subset: gard_rare +subset: gard_rare {source="GARD:8644"} subset: ordo_disease {source="Orphanet:210122"} synonym: "ACDMPV" EXACT ABBREVIATION [MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122] synonym: "alveolar capillary dysplasia" EXACT [NCIT:C98809] @@ -191417,6 +194583,7 @@ synonym: "persistent pulmonary hypertension of the newborn" RELATED [DOID:13042] synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644] xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"} xref: EFO:1001103 {source="MONDO:equivalentTo"} +xref: GARD:8644 {source="Orphanet:210122"} xref: ICD10CM:P29.3 {source="DOID:13042", source="EFO:1001103"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:747.83 {source="DOID:13042"} @@ -191457,10 +194624,12 @@ property_value: confidence "0.2864705882352938" xsd:double id: MONDO:0009936 name: familial primary pulmonary hypoplasia def: "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." [Orphanet:2257] +subset: gard_rare {source="GARD:16591"} subset: ordo_malformation_syndrome {source="Orphanet:2257"} synonym: "lung agenesis" RELATED [OMIM:265430] synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257] synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430] +xref: GARD:16591 {source="Orphanet:2257"} xref: ICD10CM:Q33.6 {source="Orphanet:2257/attributed", source="Orphanet:2257/ntbt", source="Orphanet:2257"} xref: ICD9:748.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:265430 {source="Orphanet:2257", source="MONDO:equivalentTo", source="Orphanet:2257/e"} @@ -191478,7 +194647,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009937 name: pulmonary venoocclusive disease def: "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." [NCIT:C85039] -subset: gard_rare {source="GARD:0010153"} +subset: gard_rare {source="GARD:10153"} subset: ordo_disease {source="Orphanet:31837"} subset: prototype_pattern synonym: "obstructive disease of the pulmonary veins" RELATED [GARD:0010153] @@ -191486,6 +194655,7 @@ synonym: "pulmonary capillary hemangiomatosis" EXACT [https://orcid.org/0000-000 synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453] synonym: "PVOD" EXACT ABBREVIATION [OMIM:265450] xref: DOID:5453 {source="MONDO:equivalentTo"} +xref: GARD:10153 {source="Orphanet:31837"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037458 {source="Orphanet:31837/e", source="Orphanet:31837"} xref: MESH:D011668 {source="DOID:5453", source="Orphanet:31837/e", source="MONDO:equivalentTo", source="Orphanet:31837"} @@ -191531,13 +194701,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009940 name: pycnodysostosis def: "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." [https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis] -subset: gard_rare {source="GARD:0004611"} +subset: gard_rare {source="GARD:4611"} subset: ordo_disease {source="Orphanet:763"} synonym: "PKND" RELATED ABBREVIATION [GARD:0004611] synonym: "Pycd" RELATED [OMIM:265800] synonym: "pycnodysostosis" EXACT [OMIM:265800] synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763] xref: DOID:0080038 {source="MONDO:equivalentTo"} +xref: GARD:4611 {source="Orphanet:763"} xref: ICD10CM:Q78.8 {source="Orphanet:763", source="Orphanet:763/attributed", source="Orphanet:763/ntbt"} xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: NCIT:C131187 {source="MONDO:equivalentTo"} @@ -191568,12 +194739,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009942 name: pyknoachondrogenesis def: "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." [Orphanet:3003] -subset: gard_rare {source="GARD:0004610"} +subset: gard_rare {source="GARD:4610"} subset: ordo_malformation_syndrome {source="Orphanet:3003"} synonym: "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis" RELATED OMO:0003005 [] synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610] synonym: "camera syndrome" EXACT [Orphanet:3003] synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] +xref: GARD:4610 {source="Orphanet:3003"} xref: ICD10CM:Q78.8 {source="Orphanet:3003/attributed", source="Orphanet:3003/ntbt", source="Orphanet:3003"} xref: MESH:C536251 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: OMIM:265880 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} @@ -191592,6 +194764,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4610/pyknoac id: MONDO:0009943 name: Pyle disease def: "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." [https://orcid.org/0000-0001-5208-3432, Orphanet:3005] +subset: gard_rare {source="GARD:4612"} subset: ordo_disease {source="Orphanet:3005"} synonym: "Bakwin-Krida syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] synonym: "chondrodysplasia calcificans metaphysealis" EXACT [OMIM:215050] @@ -191604,6 +194777,7 @@ synonym: "Pyle's disease" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle's syndrome" EXACT [Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] xref: DOID:0080019 {source="MONDO:equivalentTo"} +xref: GARD:4612 {source="Orphanet:3005"} xref: ICD10CM:Q78.5 {source="Orphanet:3005/inclusion", source="Orphanet:3005/ntbt", source="Orphanet:3005", source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536252 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} @@ -191634,7 +194808,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009945 name: pyridoxine-dependent epilepsy def: "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." [Orphanet:3006] -subset: gard_rare {source="GARD:0009298"} +subset: gard_rare {source="GARD:9298"} subset: ordo_disease {source="Orphanet:3006"} synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100] synonym: "antiquitin deficiency" EXACT [Orphanet:3006] @@ -191646,6 +194820,7 @@ synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] synonym: "pyridoxine-dependent epilepsy" EXACT CLINGEN_PREFERRED [OMIM:266100] synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006] xref: DOID:0080768 {source="MONDO:equivalentTo"} +xref: GARD:9298 {source="Orphanet:3006"} xref: ICD10CM:G40.8 {source="Orphanet:3006", source="Orphanet:3006/e", source="Orphanet:3006/specific"} xref: MESH:C536254 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} xref: Orphanet:3006 {source="MONDO:equivalentTo", source="OMIM:266100"} @@ -191662,6 +194837,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9298/pyridox id: MONDO:0009946 name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency def: "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." [Orphanet:35120] +subset: gard_rare {source="GARD:16635"} subset: ordo_disease {source="Orphanet:35120"} synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [OMIM:266120, OMIM:genemap2] synonym: "hemolytic Anaemia due to P5N deficiency" RELATED OMO:0003005 [] @@ -191676,6 +194852,7 @@ synonym: "Umph1 deficiency" RELATED [OMIM:266120] synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120] +xref: GARD:16635 {source="Orphanet:35120"} xref: ICD10CM:D55.3 {source="Orphanet:35120", source="Orphanet:35120/attributed", source="Orphanet:35120/ntbt"} xref: MESH:C564859 {source="MONDO:equivalentTo"} xref: OMIM:266120 {source="MONDO:equivalentTo", source="Orphanet:35120", source="Orphanet:35120/e"} @@ -191690,12 +194867,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009947 name: glutathione synthetase deficiency with 5-oxoprolinuria +subset: gard_rare {source="GARD:17330"} subset: ordo_clinical_subtype {source="Orphanet:289846"} synonym: "5-oxoprolinuria" RELATED [OMIM:266130] synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130] synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266130] synonym: "pyroglutamic aciduria" RELATED [OMIM:266130] xref: DOID:0081034 {source="MONDO:equivalentTo"} +xref: GARD:17330 {source="Orphanet:289846"} xref: ICD10CM:D55.1 {source="Orphanet:289846", source="Orphanet:289846/attributed", source="Orphanet:289846/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="Orphanet:289846/e"} @@ -191713,7 +194892,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009948 name: pyropoikilocytosis, hereditary def: "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." [NCIT:C98943] -subset: gard_rare {source="GARD:0004619"} synonym: "hereditary pyropoikilocytosis" RELATED [GARD:0004619] synonym: "HPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266140] synonym: "pyropoikilocytosis" EXACT [OMIM:266140, OMIM:genemap2] @@ -191735,6 +194913,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4619/pyropoi id: MONDO:0009949 name: pyruvate carboxylase deficiency disease def: "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." [Orphanet:3008] +subset: gard_rare {source="GARD:7512"} subset: ordo_disease {source="Orphanet:3008"} synonym: "ataxia with lactic acidosis 2" RELATED [OMIM:266150] synonym: "ataxia with lactic acidosis type 2" EXACT [Orphanet:3008] @@ -191748,6 +194927,7 @@ synonym: "pyruvate carboxylase deficiency" RELATED [OMIM:266150] synonym: "pyruvate carboxylase deficiency disease" EXACT CLINGEN_PREFERRED [] xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"} xref: EFO:1001142 {source="MONDO:equivalentTo"} +xref: GARD:7512 {source="Orphanet:3008"} xref: ICD10CM:E74.4 {source="DOID:3651", source="Orphanet:3008/inclusion", source="Orphanet:3008", source="Orphanet:3008/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} @@ -191768,6 +194948,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009950 name: pyruvate kinase deficiency of red cells def: "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." [Orphanet:766] +subset: gard_rare {source="GARD:7514"} subset: ordo_disease {source="Orphanet:766"} synonym: "hemolytic Anaemia due to pyruvate Kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anaemia due to red cell pyruvate kinase deficiency" EXACT OMO:0003005 [] @@ -191780,6 +194961,7 @@ synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [DOID:0111077, OMIM:2 synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766] synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200] xref: DOID:0111077 {source="MONDO:equivalentTo"} +xref: GARD:7514 {source="Orphanet:766"} xref: ICD10CM:D55.2 {source="Orphanet:766/inclusion", source="Orphanet:766", source="Orphanet:766/ntbt"} xref: MESH:C564858 {source="MONDO:equivalentTo"} xref: NCIT:C99037 {source="MONDO:equivalentTo"} @@ -191811,7 +194993,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009952 name: radioulnar synostosis-developmental delay-hypotonia syndrome def: "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." [Orphanet:3270] -subset: gard_rare +subset: gard_rare {source="GARD:1810"} subset: ordo_malformation_syndrome {source="Orphanet:3270"} synonym: "der Kaloustian mcintosh silver syndrome" RELATED [] synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270] @@ -191822,6 +195004,7 @@ synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developintel synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED DEPRECATED [GARD:0001810] +xref: GARD:1810 {source="Orphanet:3270"} xref: ICD10CM:Q87.8 {source="Orphanet:3270/attributed", source="Orphanet:3270/ntbt", source="Orphanet:3270"} xref: MESH:C538217 {source="MONDO:equivalentTo"} xref: MESH:C564856 {source="MONDO:equivalentTo"} @@ -191844,6 +195027,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1810/der-kal id: MONDO:0009953 name: leukocyte adhesion deficiency type II def: "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." [Orphanet:99843] +subset: gard_rare {source="GARD:4634"} subset: ordo_clinical_subtype {source="Orphanet:99843"} synonym: "CDG 2C" RELATED [GARD:0004634] synonym: "CDG IIc" EXACT [DOID:0070255] @@ -191867,6 +195051,7 @@ synonym: "SLC35C1-CDG" EXACT [Orphanet:99843] synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634] xref: DOID:0070255 {source="MONDO:equivalentTo"} xref: DOID:0080492 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:4634 {source="Orphanet:99843"} xref: ICD10CM:D84.8 {source="Orphanet:99843", source="Orphanet:99843/attributed", source="Orphanet:99843/ntbt"} xref: MESH:C535755 {source="MONDO:equivalentTo"} xref: NCIT:C4690 {source="MONDO:equivalentTo"} @@ -191888,12 +195073,13 @@ property_value: confidence "6.1428571428571415" xsd:double [Term] id: MONDO:0009954 name: Ramon syndrome -subset: gard_rare {source="GARD:0007523"} +subset: gard_rare {source="GARD:7523"} subset: ordo_malformation_syndrome {source="Orphanet:3019"} synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [OMIM:266270] synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXACT [Orphanet:3019] synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523] synonym: "Ramon syndrome" EXACT [OMIM:266270] +xref: GARD:7523 {source="Orphanet:3019"} xref: ICD10CM:Q87.8 {source="Orphanet:3019", source="Orphanet:3019/attributed", source="Orphanet:3019/ntbt"} xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} @@ -191911,13 +195097,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7523/ramon-s id: MONDO:0009955 name: rapadilino syndrome def: "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." [Orphanet:3021] -subset: gard_rare {source="GARD:0004637"} +subset: gard_rare {source="GARD:4637"} subset: ordo_malformation_syndrome {source="Orphanet:3021"} synonym: "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" RELATED [GARD:0004637] synonym: "radial and patellar aplasia" RELATED [GARD:0004637] synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637] synonym: "rapadilino syndrome" EXACT [OMIM:266280] xref: DOID:0050774 {source="MONDO:equivalentTo"} +xref: GARD:4637 {source="Orphanet:3021"} xref: ICD10CM:Q87.1 {source="Orphanet:3021/attributed", source="Orphanet:3021/ntbt", source="Orphanet:3021"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535288 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} @@ -191939,7 +195126,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4637/rapadil [Term] id: MONDO:0009956 name: red skin pigment anomaly of new guinea -subset: gard_rare {source="GARD:0009757"} synonym: "red skin pigment anomaly of new guinea" EXACT [OMIM:266350] synonym: "Red skin pigment, New Guinea type" RELATED [GARD:0009757] xref: MESH:C535515 {source="MONDO:equivalentTo"} @@ -191951,7 +195137,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9757/red-ski [Term] id: MONDO:0009957 name: Reese retinal dysplasia -subset: gard_rare {source="GARD:0010566"} synonym: "Reese retinal dysplasia" EXACT [OMIM:266400] xref: MESH:C564854 {source="MONDO:equivalentTo"} xref: OMIM:266400 {source="MONDO:equivalentTo"} @@ -191964,7 +195149,7 @@ id: MONDO:0009958 name: adult Refsum disease def: "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." [Orphanet:773] comment: Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 -subset: gard_rare {source="GARD:0005691"} +subset: gard_rare {source="GARD:5691"} subset: ordo_disease {source="Orphanet:773"} synonym: "adult Refsum disease" EXACT CLINGEN_PREFERRED [MESH:D012035, NCIT:C85043, Orphanet:773] synonym: "adult Refsum disease due to PHYH" EXACT [https://clinicalgenome.org/affiliation/40049/] @@ -191988,6 +195173,7 @@ synonym: "Refsum disease, adult, 1" EXACT [OMIM:266500] synonym: "Refsum disease, classic" EXACT [MESH:D012035, OMIM:266500] synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM:356.3, MESH:D012035, NCIT:C85043, SCTID:25362006] xref: DOID:10582 {source="MONDO:equivalentTo"} +xref: GARD:5691 {source="Orphanet:773"} xref: ICD10CM:G60.1 {source="Orphanet:773/specific", source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9CM:356.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10582"} @@ -192021,11 +195207,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5691/refsum- id: MONDO:0009959 name: peroxisome biogenesis disorder type 3B def: "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." [NCIT:P378] +subset: gard_rare {source="GARD:15226"} synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444] synonym: "PBD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder 3B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4, OMIM:266510] xref: DOID:0081241 {source="MONDO:equivalentTo"} +xref: GARD:15226 {source="OMIM:266510"} xref: ICD10CM:G60.1 {source="DOID:0050444"} xref: MESH:D052919 {source="DOID:0050444"} xref: NCIT:C84789 {source="DOID:0050444"} @@ -192119,6 +195307,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009963 name: Ulbright-Hodes syndrome def: "Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." [Orphanet:3404] +subset: gard_rare {source="GARD:5394"} subset: ordo_malformation_syndrome {source="Orphanet:3404"} synonym: "renal dysplasia limb defects syndrome" RELATED [GARD:0005394] synonym: "renal dysplasia, mesomelia, and radiohumeral fusion" RELATED [GARD:0005394] @@ -192126,6 +195315,7 @@ synonym: "renal dysplasia-limb defects syndrome" EXACT [OMIM:266910, Orphanet:34 synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphanet:3404] synonym: "RL syndrome" RELATED [OMIM:266910] synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394] +xref: GARD:5394 {source="Orphanet:3404"} xref: ICD10CM:Q87.8 {source="Orphanet:3404", source="Orphanet:3404/attributed", source="Orphanet:3404/ntbt"} xref: MESH:C537754 {source="MONDO:equivalentTo"} xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="Orphanet:3404/e"} @@ -192142,6 +195332,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009964 name: short-rib thoracic dysplasia 9 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." [DOID:0110097, PMID:22503633] +subset: gard_rare {source="GARD:15227", source="GARD:8600"} subset: ordo_disease {source="Orphanet:140969"} synonym: "Conorenal syndrome" EXACT [OMIM:266920, Orphanet:140969] synonym: "Mainzer Saldino syndrome" EXACT [GARD:0008600] @@ -192153,6 +195344,8 @@ synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373] synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:266920] synonym: "SRTD9" EXACT ABBREVIATION [DOID:0110097, MONDO:Lexical, OMIM:266920] xref: DOID:0110097 {source="MONDO:equivalentTo"} +xref: GARD:15227 {source="OMIM:266920"} +xref: GARD:8600 {source="Orphanet:140969"} xref: ICD10CM:Q87.5 {source="Orphanet:140969", source="Orphanet:140969/attributed", source="Orphanet:140969/ntbt", source="DOID:0110097"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535463 {source="Orphanet:140969", source="Orphanet:140969/e"} @@ -192174,7 +195367,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009965 name: Perlman syndrome def: "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." [Orphanet:2849] -subset: gard_rare {source="GARD:0003936"} +subset: gard_rare {source="GARD:3936"} subset: ordo_malformation_syndrome {source="Orphanet:2849"} synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [DOID:0060476] synonym: "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" EXACT OMO:0003005 [] @@ -192193,6 +195386,7 @@ synonym: "renal hamartomas, nephroblastomatosis and foetal gigantism" EXACT OMO: synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000] synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED OMO:0003005 [] xref: DOID:0060476 {source="MONDO:equivalentTo"} +xref: GARD:3936 {source="Orphanet:2849"} xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849/attributed", source="Orphanet:2849/ntbt", source="Orphanet:2849"} xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"} xref: NCIT:C103144 {source="MONDO:equivalentTo"} @@ -192209,7 +195403,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3936/perlman [Term] id: MONDO:0009966 name: NPHP3-related Meckel-like syndrome -subset: gard_rare +subset: gard_rare {source="GARD:4665"} subset: ordo_malformation_syndrome {source="Orphanet:3032"} synonym: "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia" RELATED [GARD:0004665] synonym: "Goldston syndrome" EXACT [Orphanet:3032] @@ -192223,6 +195417,7 @@ synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665] synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OMIM:267010] synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032] xref: DOID:0070121 {source="MONDO:equivalentTo"} +xref: GARD:4665 {source="Orphanet:3032"} xref: ICD10CM:Q61.9 {source="Orphanet:3032/attributed", source="Orphanet:3032/ntbt", source="Orphanet:3032"} xref: MESH:C537756 {source="MONDO:equivalentTo"} xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="Orphanet:3032"} @@ -192239,12 +195434,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4665/dandy-w [Term] id: MONDO:0009967 name: renal tubular acidosis 3 +subset: gard_rare {source="GARD:15228"} synonym: "bicarbonate-wasting RTA" RELATED [GARD:0004670] synonym: "renal tubular acidosis 3" EXACT [MONDORULE:1, OMIM:267200] synonym: "renal tubular acidosis III" EXACT [OMIM:267200] synonym: "renal tubular acidosis, distal, type 3" RELATED [GARD:0004670] synonym: "RTA, bicarbonate-wasting type" EXACT [OMIM:267200] synonym: "RTA, dislocation type" EXACT [OMIM:267200] +xref: GARD:15228 {source="OMIM:267200"} xref: MESH:C537759 {source="MONDO:equivalentTo"} xref: OMIM:267200 {source="MONDO:equivalentTo"} xref: Orphanet:2785 {source="OMIM:267200"} @@ -192256,6 +195453,7 @@ property_value: confidence "0.3786246893123453" xsd:double [Term] id: MONDO:0009968 name: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss +subset: gard_rare {source="GARD:15229"} synonym: "AR dRTA with hearing loss" RELATED [GARD:0004666] synonym: "AR dRTA wth deafness" RELATED [GARD:0004666] synonym: "autosomal recessive distal renal tubular acidosis with deafness" RELATED [GARD:0004666] @@ -192270,6 +195468,7 @@ synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve de synonym: "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" EXACT CLINGEN_PREFERRED [] synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [OMIM:267300] synonym: "RTA with progressive nerve deafness" RELATED [OMIM:267300] +xref: GARD:15229 {source="OMIM:267300"} xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562897 {source="MONDO:equivalentTo"} @@ -192291,7 +195490,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009969 name: renal-genital-middle ear anomalies -subset: gard_rare {source="GARD:0004664"} subset: ordo_malformation_syndrome {source="Orphanet:1092"} synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664] synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400] @@ -192308,6 +195506,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4664/renal-g id: MONDO:0009970 name: renal tubular dysgenesis of genetic origin def: "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:16854"} subset: ordo_etiological_subtype {source="Orphanet:97369"} synonym: "genetic renal tubular dysgenesis" EXACT [MONDO:patterns/genetic] synonym: "primitive renal tubule syndrome" RELATED [OMIM:267430] @@ -192315,6 +195514,7 @@ synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430] synonym: "renal tubular dysgenesis of genetic origin" EXACT CLINGEN_PREFERRED [] synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430] synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430] +xref: GARD:16854 {source="Orphanet:97369"} xref: ICD10CM:Q63.8 {source="Orphanet:97369/attributed", source="Orphanet:97369/ntbt", source="Orphanet:97369"} xref: OMIM:267430 {source="Orphanet:97369", source="MONDO:equivalentTo", source="Orphanet:97369/e"} xref: Orphanet:3033 {source="OMIM:267430"} @@ -192333,7 +195533,7 @@ property_value: confidence "8.333333333333332" xsd:double id: MONDO:0009971 name: respiratory distress syndrome in premature infants def: "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." [Orphanet:70587] -subset: gard_rare +subset: gard_rare {source="GARD:112"} subset: ordo_disease {source="Orphanet:70587"} synonym: "hyaline Membrane disease" RELATED [OMIM:267450] synonym: "hyaline Membrane disease, formerly" RELATED [OMIM:267450] @@ -192347,6 +195547,7 @@ synonym: "respiratory distress syndrome" BROAD [NCIT:C27560] synonym: "respiratory distress syndrome in premature infants" EXACT [OMIM:267450] synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112] xref: EFO:1000644 {source="MONDO:equivalentTo"} +xref: GARD:112 {source="Orphanet:70587"} xref: ICD10CM:P22.0 {source="Orphanet:70587", source="DOID:12716", source="Orphanet:70587/e"} xref: MESH:C566881 {source="MONDO:equivalentTo"} xref: MESH:D006819 {source="DOID:12716", source="EFO:1000644"} @@ -192375,7 +195576,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009973 name: reticular dysgenesis def: "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." [Orphanet:33355] -subset: gard_rare {source="GARD:0008625"} +subset: gard_rare {source="GARD:8625"} subset: ordo_disease {source="Orphanet:33355"} synonym: "AK2 deficiency" EXACT [Orphanet:33355] synonym: "aleukocytosis" RELATED [DOID:0060020, OMIM:267500] @@ -192393,6 +195594,7 @@ synonym: "reticular dysgenesis" EXACT CLINGEN_PREFERRED [OMIM:267500] synonym: "SCID with leukopenia" EXACT [Orphanet:33355] synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355] xref: DOID:0060020 {source="MONDO:equivalentTo"} +xref: GARD:8625 {source="Orphanet:33355"} xref: ICD10CM:D81.0 {source="Orphanet:33355/specific", source="Orphanet:33355/e", source="Orphanet:33355"} xref: MESH:C538361 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"} xref: NCIT:C27070 {source="MONDO:equivalentTo", source="DOID:0060020"} @@ -192454,6 +195656,7 @@ id: MONDO:0009975 name: reticulum cell sarcoma def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." [NCIT:C27824] comment: Editor note: check this +subset: gard_rare {source="GARD:16765"} subset: ordo_disease {source="Orphanet:86900"} synonym: "histiocytic lymphoma" EXACT [DOID:8538] synonym: "interdigitating cell sarcoma" EXACT [Orphanet:86900] @@ -192465,6 +195668,7 @@ synonym: "reticulum cell sarcoma" EXACT [OMIM:267730] synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"} xref: EFO:0005287 {source="MONDO:equivalentTo"} +xref: GARD:16765 {source="Orphanet:86900"} xref: ICD10CM:C96.4 {source="Orphanet:86900", source="Orphanet:86900/ntbt"} xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"} xref: ICD9:200.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -192515,11 +195719,13 @@ replaced_by: MONDO:0800166 id: MONDO:0009978 name: retinal degeneration-nanophthalmos-glaucoma syndrome def: "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." [Orphanet:1574] +subset: gard_rare {source="GARD:395"} subset: ordo_malformation_syndrome {source="Orphanet:1574"} synonym: "MacKay Shek Carr syndrome" RELATED [GARD:0000395] synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574] synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760] synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395] +xref: GARD:395 {source="Orphanet:1574"} xref: ICD10CM:H35.5 {source="Orphanet:1574", source="Orphanet:1574/attributed", source="Orphanet:1574/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C538364 {source="MONDO:equivalentTo"} xref: OMIM:267760 {source="Orphanet:1574", source="MONDO:equivalentTo", source="Orphanet:1574/e"} @@ -192535,9 +195741,12 @@ property_value: confidence "8.6" xsd:double id: MONDO:0009979 name: reticular dystrophy of the retinal pigment epithelium def: "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." [Orphanet:99002] +subset: gard_rare {source="GARD:18239", source="GARD:16891"} subset: ordo_disease {source="Orphanet:99002"} synonym: "reticular dystrophy of retinal pigment epithelium" EXACT [MONDO:0008370, OMIM:179840] synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [MESH:C564844, OMIM:267800, UMLS:C1849407] +xref: GARD:16891 {source="Orphanet:99002"} +xref: GARD:18239 {source="OMIM:179840"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"} xref: MESH:C564844 {source="MONDO:mondoIsBroaderThanSource"} xref: MESH:C566721 {source="MONDO:equivalentTo"} @@ -192584,6 +195793,7 @@ relationship: disease_has_feature HP:0008035 ! Retinitis pigmentosa inversa id: MONDO:0009983 name: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome def: "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." [Orphanet:3085] +subset: gard_rare {source="GARD:4683"} subset: ordo_malformation_syndrome {source="Orphanet:3085"} synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability" RELATED [OMIM:268020] synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED DEPRECATED [OMIM:268020] @@ -192592,6 +195802,7 @@ synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" EXACT [Orphanet:3085] synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085] synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085] +xref: GARD:4683 {source="Orphanet:3085"} xref: ICD10CM:Q87.8 {source="Orphanet:3085/attributed", source="Orphanet:3085/ntbt", source="Orphanet:3085"} xref: MESH:C564841 {source="MONDO:equivalentTo"} xref: OMIM:268020 {source="Orphanet:3085/e", source="MONDO:equivalentTo", source="Orphanet:3085"} @@ -192609,10 +195820,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009984 name: late-adult onset retinitis pigmentosa def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." [DOID:0110421, PMID:1424244] +subset: gard_rare {source="GARD:15230"} synonym: "retinitis pigmentosa, 'Senile'" RELATED [OMIM:268025] synonym: "retinitis pigmentosa, late-ADULT onset" RELATED [OMIM:268025] synonym: "senile retinitis pigmentosa" EXACT [DOID:0110421] xref: DOID:0110421 {source="MONDO:equivalentTo"} +xref: GARD:15230 {source="OMIM:268025"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110421"} xref: MESH:C564840 {source="MONDO:equivalentTo"} xref: OMIM:268025 {source="MONDO:equivalentTo", source="DOID:0110421"} @@ -192623,7 +195836,6 @@ is_a: MONDO:0019200 {source="DC-OMIM:268025", source="DOID:0110421", source="MES id: MONDO:0009985 name: retinohepatoendocrinologic syndrome def: "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." [Orphanet:3087] -subset: gard_rare {source="GARD:0004685"} subset: ordo_malformation_syndrome {source="Orphanet:3087"} synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040] synonym: "rhe syndrome" RELATED [OMIM:268040] @@ -192659,9 +195871,11 @@ is_a: MONDO:0003847 {source="MESH:C538367/inferred"} ! hereditary disease id: MONDO:0009987 name: autosomal recessive pericentral pigmentary retinopathy def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." [DOID:0110422, PMID:3189470] +subset: gard_rare {source="GARD:15231"} synonym: "retinitis pigmentosa, pericentral" RELATED [OMIM:268060] synonym: "retinopathy, pericentral pigmentary, autosomal recessive" RELATED [OMIM:268060] xref: DOID:0110422 {source="MONDO:equivalentTo"} +xref: GARD:15231 {source="OMIM:268060"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110422"} xref: MESH:C564838 {source="MONDO:equivalentTo"} xref: OMIM:268060 {source="MONDO:equivalentTo", source="DOID:0110422"} @@ -192672,7 +195886,6 @@ is_a: MONDO:0019200 {source="DOID:0110422", source="MESH:C564838"} ! retinitis p [Term] id: MONDO:0009988 name: retinoschisis of fovea -subset: gard_rare {source="GARD:0009143"} synonym: "familial foveal retinoschisis" RELATED [GARD:0009143] synonym: "foveal retinoschisis" RELATED [GARD:0009143] synonym: "retinoschisis of fovea" EXACT [OMIM:268080] @@ -192695,7 +195908,7 @@ replaced_by: MONDO:0100288 id: MONDO:0009990 name: Revesz syndrome def: "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." [Orphanet:3088] -subset: gard_rare {source="GARD:0004695"} +subset: gard_rare {source="GARD:4695"} subset: ordo_malformation_syndrome {source="Orphanet:3088"} synonym: "DKCA5" EXACT ABBREVIATION [DOID:0070026] synonym: "dyskeratosis congenita with bilateral exudative retinopathy" EXACT [Orphanet:3088] @@ -192705,6 +195918,7 @@ synonym: "retinopathy-anemia-central nervous system anomalies syndrome" EXACT [O synonym: "Revesz syndrome" EXACT [OMIM:268130] synonym: "Revesz-DeBuse syndrome" EXACT [Orphanet:3088] xref: DOID:0070026 {source="MONDO:equivalentTo"} +xref: GARD:4695 {source="Orphanet:3088"} xref: MESH:C538371 {source="MONDO:equivalentTo"} xref: NCIT:C152064 {source="MONDO:equivalentTo"} xref: OMIM:268130 {source="Orphanet:3088/e", source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088"} @@ -192726,9 +195940,11 @@ replaced_by: MONDO:0019107 [Term] id: MONDO:0009992 name: myoglobinuria, acute recurrent, autosomal recessive +subset: gard_rare {source="GARD:18251"} synonym: "myoglobinuria, acute recurrent, autosomal recessive" EXACT CLINGEN_PREFERRED [OMIM:268200] synonym: "myoglobinuria, familial paroxysmal paralytic" RELATED [OMIM:268200] synonym: "rhabdomyolysis, acute recurrent" RELATED [OMIM:268200] +xref: GARD:18251 {source="OMIM:268200"} xref: MESH:C564832 {source="MONDO:equivalentTo"} xref: OMIM:268200 {source="MONDO:equivalentTo"} xref: Orphanet:99845 {source="OMIM:268200"} @@ -192743,6 +195959,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0009993 name: embryonal rhabdomyosarcoma def: "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." [NCIT:P378] +subset: gard_rare {source="GARD:4702"} subset: ordo_clinical_subtype {source="Orphanet:99757"} synonym: "botryoid rhabdomyosarcoma (type of ERMS)" RELATED [GARD:0004702] synonym: "embryonal rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C8971] @@ -192758,6 +195975,7 @@ synonym: "RMSE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268210] synonym: "spindle cell rhabdomyosarcomas (type of ERMS)" RELATED [GARD:0004702] xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"} xref: EFO:0000437 {source="MONDO:equivalentTo"} +xref: GARD:4702 {source="Orphanet:99757"} xref: HP:0006743 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:99757/ntbt", source="Orphanet:99757"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -192783,6 +196001,7 @@ property_value: IAO:0000589 "embryonal rhabdomyosarcoma (disease)" xsd:string id: MONDO:0009994 name: alveolar rhabdomyosarcoma def: "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." [NCIT:P378] +subset: gard_rare {source="GARD:4701"} subset: ordo_clinical_subtype {source="Orphanet:99756"} synonym: "alveolar childhood rhabdomyosarcoma" EXACT [DOID:4051] synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, MONDO:ambiguous, NCIT:C3749] @@ -192801,6 +196020,7 @@ synonym: "rhabdomyosarcoma, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM synonym: "RMS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268220] xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"} xref: EFO:0000248 {source="MONDO:equivalentTo"} +xref: GARD:4701 {source="Orphanet:99756"} xref: HP:0006779 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:99756/ntbt", source="Orphanet:99756"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -192825,8 +196045,10 @@ property_value: IAO:0000589 "alveolar rhabdomyosarcoma (disease)" xsd:string [Term] id: MONDO:0009995 name: obsolete rheumatic fever-related antigen +subset: gard_rare {source="GARD:15232"} synonym: "rheumatic fever, acute, susceptibility to" RELATED [OMIM:268240] synonym: "rheumatic fever-related antigen" EXACT [OMIM:268240] +xref: GARD:15232 {source="OMIM:268240", source="MONDO:obsoleteEquivalent"} xref: OMIM:268240 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"} xref: UMLS:C1849383 {source="OMIM:268240", source="MONDO:notFoundInDiseaseSubset"} @@ -192838,10 +196060,12 @@ consider: MONDO:0017767 {source="Orphanet:3099/btnt"} id: MONDO:0009996 name: rhizomelic syndrome, Urbach type def: "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." [Orphanet:3098] +subset: gard_rare {source="GARD:4705"} subset: ordo_malformation_syndrome {source="Orphanet:3098"} synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705] synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250] synonym: "rhizomelic syndrome" RELATED [OMIM:268250] +xref: GARD:4705 {source="Orphanet:3098"} xref: ICD10CM:Q87.1 {source="Orphanet:3098/attributed", source="Orphanet:3098/ntbt", source="Orphanet:3098"} xref: MESH:C537611 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} xref: OMIM:268250 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} @@ -192856,6 +196080,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009997 name: obsolete Roberts syndrome +xref: GARD:7387 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4901" xsd:anyURI is_obsolete: true @@ -192865,7 +196090,7 @@ replaced_by: MONDO:0100253 id: MONDO:0009998 name: Richieri Costa-Pereira syndrome def: "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." [Orphanet:3102] -subset: gard_rare {source="GARD:0004718"} +subset: gard_rare {source="GARD:4718"} subset: ordo_malformation_syndrome {source="Orphanet:3102"} synonym: "Richieri Costa Pereira syndrome" RELATED [GARD:0004718] synonym: "Richieri Costa-Pereira syndrome" EXACT CLINGEN_PREFERRED [] @@ -192875,6 +196100,7 @@ synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [OMIM:2 synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" RELATED [GARD:0004718] synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] +xref: GARD:4718 {source="Orphanet:3102"} xref: ICD10CM:Q87.8 {source="Orphanet:3102/attributed", source="Orphanet:3102/ntbt", source="Orphanet:3102"} xref: MESH:C535677 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: OMIM:268305 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} @@ -192895,6 +196121,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4718/richier id: MONDO:0009999 name: autosomal recessive Robinow syndrome def: "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." [Orphanet:1507] +subset: gard_rare {source="GARD:16568"} subset: ordo_clinical_subtype {source="Orphanet:1507"} synonym: "costovertebral segmentation defect with mesomelia" RELATED [OMIM:268310] synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [OMIM:268310] @@ -192907,6 +196134,7 @@ synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phal synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310] synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507] xref: DOID:0060764 {source="MONDO:equivalentTo"} +xref: GARD:16568 {source="Orphanet:1507"} xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507/attributed", source="Orphanet:1507/ntbt", source="Orphanet:1507"} xref: MESH:C535863 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="Orphanet:1507"} xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507"} @@ -192935,10 +196163,12 @@ is_a: MONDO:0003847 {source="MESH:C564829/inferred"} ! hereditary disease id: MONDO:0010001 name: ectodermal dysplasia-blindness syndrome def: "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." [Orphanet:1806] +subset: gard_rare {source="GARD:2045"} subset: ordo_malformation_syndrome {source="Orphanet:1806"} synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [OMIM:268320] synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293] synonym: "RODRIGUES blindness" RELATED [OMIM:268320] +xref: GARD:2045 {source="Orphanet:1806"} xref: ICD10CM:Q87.8 {source="Orphanet:1806/attributed", source="Orphanet:1806/ntbt", source="Orphanet:1806"} xref: MESH:C535865 {source="MONDO:equivalentTo"} xref: OMIM:268320 {source="Orphanet:1806/e", source="MONDO:equivalentTo", source="Orphanet:1806"} @@ -192954,6 +196184,7 @@ id: MONDO:0010002 name: Rothmund-Thomson syndrome def: "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." [Orphanet:2909] comment: Editor note: check whether properties apply to both 1 and 2, or just type 2 +subset: gard_rare {source="GARD:4392"} subset: ordo_disease {source="Orphanet:2909"} synonym: "congenital poikiloderma" EXACT [DOID:2732] synonym: "poikiloderma atrophicans and cataract" RELATED [OMIM:268400] @@ -192962,6 +196193,7 @@ synonym: "poikiloderma of Rothmund-Thomson" EXACT [Orphanet:2909] synonym: "Rothmund-Thomson syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:268400] synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:268400, Orphanet:2909] xref: DOID:2732 {source="MONDO:equivalentTo"} +xref: GARD:4392 {source="Orphanet:2909"} xref: ICD10CM:Q82.8 {source="Orphanet:2909/ntbt", source="Orphanet:2909", source="Orphanet:2909/index", source="DOID:2732"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011038 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} @@ -192988,7 +196220,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010003 name: Rowley-Rosenberg syndrome -subset: gard_rare {source="GARD:0008556"} synonym: "Growth retardation, pulmonary hypertension, and amino aciduria" RELATED [OMIM:268500] synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" RELATED [GARD:0008556] synonym: "Rowley-Rosenberg syndrome" EXACT [OMIM:268500] @@ -193003,7 +196234,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8556/rowley- id: MONDO:0010004 name: EEC syndrome def: "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." [Orphanet:1896] -subset: gard_rare {source="GARD:0002076"} +subset: gard_rare {source="GARD:2076"} subset: ordo_malformation_syndrome {source="Orphanet:1896"} synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [DOID:0060782] synonym: "ectrodactyly-cleft lip/palate syndrome" RELATED [GARD:0002076] @@ -193016,6 +196247,7 @@ synonym: "RUDIGER syndrome" RELATED [OMIM:268650] synonym: "Rudiger syndrome 1" EXACT [DOID:0060782] synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782] xref: DOID:0060782 {source="MONDO:equivalentTo"} +xref: GARD:2076 {source="Orphanet:1896"} xref: ICD10CM:Q82.4 {source="DOID:0060782", source="Orphanet:1896", source="Orphanet:1896/attributed", source="Orphanet:1896/ntbt"} xref: MESH:C536189 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C148261 {source="MONDO:equivalentTo"} @@ -193044,12 +196276,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2076/eec-syn id: MONDO:0010005 name: saccharopinuria def: "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." [Orphanet:3124] +subset: gard_rare {source="GARD:314"} subset: ordo_disease {source="Orphanet:3124"} synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:268700] synonym: "hyperlysinemia type II" EXACT [Orphanet:3124] synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700] synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124] synonym: "saccharopinuria" EXACT [OMIM:268700] +xref: GARD:314 {source="Orphanet:3124"} xref: ICD10CM:E72.3 {source="Orphanet:3124/attributed", source="Orphanet:3124/ntbt", source="Orphanet:3124"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537218 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"} @@ -193066,7 +196300,7 @@ property_value: confidence "5.388888888888888" xsd:double id: MONDO:0010006 name: Sandhoff disease def: "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration." [Orphanet:796] -subset: gard_rare +subset: gard_rare {source="GARD:2521"} subset: ordo_disease {source="Orphanet:796"} synonym: "Beta-hexosaminidase-beta-subunit deficiency" RELATED [GARD:0007604] synonym: "GM2 gangliosidosis 0 variant" EXACT [Orphanet:796] @@ -193085,6 +196319,7 @@ synonym: "Sandhoff Jatzkewitz disease" EXACT [DOID:3323] synonym: "Sandhoff-Jatzkewitz-Pilz disease" RELATED [GARD:0007604] synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604] xref: DOID:3323 {source="MONDO:equivalentTo"} +xref: GARD:2521 {source="Orphanet:796"} xref: ICD10CM:E75.0 {source="Orphanet:796", source="Orphanet:796/ntbt", source="Orphanet:796/inclusion"} xref: ICD10CM:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"} xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} @@ -193113,7 +196348,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010007 name: microbrachycephaly-ptosis-cleft lip syndrome def: "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." [Orphanet:2511] -subset: gard_rare +subset: gard_rare {source="GARD:3596"} subset: ordo_malformation_syndrome {source="Orphanet:2511"} synonym: "microbrachycephaly ptosis cleft lip" RELATED [GARD:0003596] synonym: "Richieri Costa-Guion Almeida-Ramos syndrome" EXACT [Orphanet:2511] @@ -193121,6 +196356,7 @@ synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [OMIM:268850] synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850] synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850] synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [OMIM:268850] +xref: GARD:3596 {source="Orphanet:2511"} xref: ICD10CM:Q87.8 {source="Orphanet:2511/attributed", source="Orphanet:2511/ntbt", source="Orphanet:2511"} xref: OMIM:268850 {source="Orphanet:2511", source="MONDO:equivalentTo", source="Orphanet:2511/e"} xref: Orphanet:2511 {source="GARD:0003596", source="MONDO:equivalentTo", source="OMIM:268850"} @@ -193135,7 +196371,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3596/microbr id: MONDO:0010008 name: sarcosinemia def: "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." [Orphanet:3129] -subset: gard_rare {source="GARD:0000158"} +subset: gard_rare {source="GARD:158"} subset: ordo_disease {source="Orphanet:3129"} synonym: "hypersarcosinemia" RELATED [OMIM:268900] synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268900] @@ -193144,6 +196380,7 @@ synonym: "sarcosinemia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:268900, OMI synonym: "SARD deficiency" RELATED [OMIM:268900] synonym: "SARDH deficiency" RELATED [OMIM:268900] xref: DOID:0112307 {source="MONDO:equivalentTo"} +xref: GARD:158 {source="Orphanet:3129"} xref: ICD10CM:E72.5 {source="Orphanet:3129/inclusion", source="Orphanet:3129", source="Orphanet:3129/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059299 {source="Orphanet:3129", source="Orphanet:3129/e"} @@ -193175,7 +196412,7 @@ replaced_by: MONDO:0100282 id: MONDO:0010010 name: Schinzel-Giedion syndrome def: "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." [Orphanet:798] -subset: gard_rare +subset: gard_rare {source="GARD:117"} subset: ordo_malformation_syndrome {source="Orphanet:798"} synonym: "Schinzel Giedion midface-retraction syndrome" RELATED [GARD:0000117] synonym: "Schinzel Giedion syndrome" RELATED [GARD:0000117] @@ -193184,6 +196421,7 @@ synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [NCIT:C129308] synonym: "Schinzel-Giedion syndrome" EXACT CLINGEN_PREFERRED [GARD:0000117] synonym: "SGS" EXACT ABBREVIATION [Orphanet:798] synonym: "Sgs" RELATED [OMIM:269150] +xref: GARD:117 {source="Orphanet:798"} xref: ICD10CM:Q87.0 {source="Orphanet:798/attributed", source="Orphanet:798/ntbt", source="Orphanet:798"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063540 {source="Orphanet:798", source="Orphanet:798/e"} @@ -193207,9 +196445,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010011 name: schizencephaly def: "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." [Orphanet:799] -subset: gard_rare +subset: gard_rare {source="GARD:166"} subset: ordo_disease {source="Orphanet:799"} synonym: "schizencephaly" EXACT CLINGEN_PREFERRED [OMIM:269160] +xref: GARD:166 {source="Orphanet:799"} xref: ICD10CM:Q04.6 {source="Orphanet:799/inclusion", source="Orphanet:799", source="Orphanet:799/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -193226,6 +196465,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0010012 name: autoimmune polyendocrinopathy type 2 def: "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." [NCIT:C129728] +subset: gard_rare {source="GARD:7611"} subset: ordo_disease {source="Orphanet:3143"} synonym: "APS 2" RELATED [OMIM:269200] synonym: "APS type 2" EXACT [Orphanet:3143] @@ -193244,6 +196484,7 @@ synonym: "polyglandular deficiency syndrome type 2" RELATED [GARD:0007611] synonym: "Schmidt syndrome" EXACT [DOID:0050168, OMIM:269200, Orphanet:3143] synonym: "Schmidt's syndrome" RELATED [GARD:0007611] xref: DOID:0050168 {source="MONDO:equivalentTo"} +xref: GARD:7611 {source="Orphanet:3143"} xref: ICD10CM:E31.0 {source="Orphanet:3143/specific", source="Orphanet:3143/e", source="Orphanet:3143"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129728 {source="MONDO:equivalentTo"} @@ -193260,7 +196501,7 @@ property_value: confidence "4.833333333333333" xsd:double id: MONDO:0010013 name: schneckenbecken dysplasia def: "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." [Orphanet:3144] -subset: gard_rare {source="GARD:0000169"} +subset: gard_rare {source="GARD:169"} subset: ordo_malformation_syndrome {source="Orphanet:3144"} synonym: "chondrodysplasia lethal neonatal with snail like pelvis" RELATED [GARD:0000169] synonym: "chondrodysplasia with snail-like pelvis" EXACT [Orphanet:3144] @@ -193269,6 +196510,7 @@ synonym: "schneckenbecken dysplasia" EXACT CLINGEN_PREFERRED [OMIM:269250] synonym: "SHNKND" RELATED ABBREVIATION [OMIM:269250] synonym: "SLC35D1-CDG" EXACT [Orphanet:3144] xref: DOID:0050775 {source="MONDO:equivalentTo"} +xref: GARD:169 {source="Orphanet:3144"} xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="Orphanet:3144/attributed", source="Orphanet:3144/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="Orphanet:3144/e"} @@ -193291,10 +196533,12 @@ id: MONDO:0010014 name: craniometadiaphyseal dysplasia, wormian bone type def: "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." [Orphanet:85184] comment: OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. {source="OMIM:269300"} +subset: gard_rare {source="GARD:16737"} subset: ordo_malformation_syndrome {source="Orphanet:85184"} synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300] synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300] synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300] +xref: GARD:16737 {source="Orphanet:85184"} xref: ICD10CM:Q78.8 {source="Orphanet:85184/attributed", source="Orphanet:85184/ntbt", source="Orphanet:85184"} xref: OMIM:269300 {source="Orphanet:85184/e", source="MONDO:equivalentTo", source="Orphanet:85184"} xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"} @@ -193310,6 +196554,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010015 name: anterior segment dysgenesis 7 def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17327"} subset: ordo_malformation_syndrome {source="Orphanet:289499"} synonym: "anterior segment dysgenesis 7" EXACT CLINGEN_PREFERRED [OMIM:269400] synonym: "anterior segment dysgenesis 7, with sclerocornea" EXACT [OMIM:269400, OMIM:genemap2] @@ -193325,6 +196570,7 @@ synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:p synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400] synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648] xref: DOID:0080612 {source="MONDO:equivalentTo"} +xref: GARD:17327 {source="Orphanet:289499"} xref: OMIM:269400 {source="Orphanet:289499", source="MONDO:equivalentTo", source="Orphanet:289499/e"} xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"} xref: UMLS:C1853235 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -193341,6 +196587,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010016 name: sclerosteosis 1 def: "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15233"} synonym: "cortical hyperostosis with syndactyly" RELATED [OMIM:269500] synonym: "sclerosteosis 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:269500] synonym: "sclerosteosis caused by mutation in SOST" EXACT [MONDO:design_pattern] @@ -193349,6 +196596,7 @@ synonym: "SOST" RELATED ABBREVIATION [OMIM:269500] synonym: "SOST sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SOST1" EXACT ABBREVIATION [DOID:0060756, MONDO:Lexical, OMIM:269500] xref: DOID:0060756 {source="MONDO:equivalentTo"} +xref: GARD:15233 {source="OMIM:269500"} xref: ICD10CM:M85.2 {source="DOID:0060756"} xref: OMIM:269500 {source="MONDO:equivalentTo", source="DOID:0060756"} xref: Orphanet:3152 {source="OMIM:269500", source="DOID:0060756"} @@ -193366,6 +196614,7 @@ id: MONDO:0010017 name: sea-blue histiocyte syndrome def: "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." [NCIT:P378] subset: clingen +subset: gard_rare {source="GARD:8241"} subset: ordo_disease {source="Orphanet:158029"} synonym: "histiocytosis, Sea-blue" RELATED [OMIM:269600] synonym: "inherited Lipemic splenomegaly" RELATED [GARD:0008241] @@ -193373,6 +196622,7 @@ synonym: "SEA-blue histiocyte disease" RELATED [OMIM:269600] synonym: "sea-blue histiocytosis" RELATED [OMIM:269600] xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"} xref: EFO:1001170 {source="MONDO:equivalentTo"} +xref: GARD:8241 {source="Orphanet:158029"} xref: ICD10CM:D76.3 {source="Orphanet:158029/attributed", source="Orphanet:158029/ntbt", source="Orphanet:158029"} xref: MESH:D012618 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: NCIT:C85062 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} @@ -193415,7 +196665,7 @@ property_value: confidence "1.880658436213991" xsd:double id: MONDO:0010020 name: congenital generalized lipodystrophy type 2 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010212"} +subset: gard_rare {source="GARD:10212"} synonym: "Berardinelli Seip congenital lipodystrophy type 2" RELATED [GARD:0010212] synonym: "Berardinelli syndrome" RELATED [OMIM:269700] synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [DOID:0111136] @@ -193437,6 +196687,7 @@ synonym: "lipodystrophy, total, and acromegaloid gigantism" RELATED [OMIM:269700 synonym: "Seip syndrome" RELATED [OMIM:269700] synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [DOID:0111136] xref: DOID:0111136 {source="MONDO:equivalentTo"} +xref: GARD:10212 {source="OMIM:269700"} xref: ICD10CM:E88.1 {source="DOID:0111136"} xref: OMIM:269700 {source="MONDO:equivalentTo", source="DOID:0111136"} xref: Orphanet:528 {source="OMIM:269700"} @@ -193452,12 +196703,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10212/congen [Term] id: MONDO:0010021 name: seizures, benign familial neonatal, autosomal recessive +subset: gard_rare {source="GARD:15234"} synonym: "autosomal dominant form of benign neonatal seizures" RELATED [GARD:0001519] synonym: "Bfns, autosomal recessive" RELATED [OMIM:269720] synonym: "convulsions benign familial neonatal dominant form" RELATED [GARD:0001519] synonym: "convulsions, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720] synonym: "epilepsy, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720] synonym: "seizures, benign familial neonatal, autosomal recessive" EXACT [OMIM:269720] +xref: GARD:15234 {source="OMIM:269720"} xref: MESH:C564823 {source="MONDO:equivalentTo"} xref: OMIM:269720 {source="MONDO:equivalentTo"} xref: Orphanet:1949 {source="OMIM:269720"} @@ -193477,6 +196730,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010023 name: combined immunodeficiency due to ZAP70 deficiency def: "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." [Orphanet:911] +subset: gard_rare {source="GARD:387"} subset: ordo_disease {source="Orphanet:911"} synonym: "IMD48" RELATED ABBREVIATION [OMIM:269840] synonym: "immunodeficiency 48" RELATED [OMIM:269840] @@ -193486,6 +196740,7 @@ synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269840] synonym: "ZAP-70 deficiency" RELATED [GARD:0000387] synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911] xref: DOID:0111943 {source="MONDO:equivalentTo"} +xref: GARD:387 {source="Orphanet:911"} xref: ICD10CM:D81.8 {source="Orphanet:911/attributed", source="Orphanet:911/ntbt", source="Orphanet:911"} xref: MESH:C536722 {source="MONDO:equivalentTo"} xref: OMIM:269840 {source="Orphanet:911", source="MONDO:equivalentTo", source="Orphanet:911/e"} @@ -193502,6 +196757,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0010024 name: Beemer-Langer syndrome def: "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." [Orphanet:93268] +subset: gard_rare {source="GARD:4832"} subset: ordo_malformation_syndrome {source="Orphanet:93268"} synonym: "Beemer Langer syndrome" RELATED [GARD:0004832] synonym: "Beemer-Langer syndrome" EXACT [OMIM:269860] @@ -193518,6 +196774,7 @@ synonym: "SRPS type 4" RELATED [GARD:0004832] synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269860] synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249] xref: DOID:9249 {source="MONDO:equivalentTo"} +xref: GARD:4832 {source="Orphanet:93268"} xref: ICD10CM:Q77.2 {source="Orphanet:93268", source="Orphanet:93268/attributed", source="Orphanet:93268/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537599 {source="DOID:9249", source="MONDO:equivalentTo"} @@ -193548,6 +196805,7 @@ is_a: MONDO:0003847 {source="MESH:C564821/inferred"} ! hereditary disease id: MONDO:0010026 name: SHORT syndrome def: "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." [Orphanet:3163] +subset: gard_rare {source="GARD:7633"} subset: ordo_malformation_syndrome {source="Orphanet:3163"} synonym: "Aarskog-Ose-Pande syndrome" EXACT [Orphanet:3163] synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [OMIM:269880] @@ -193559,6 +196817,7 @@ synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger a synonym: "SHORT syndrome" EXACT CLINGEN_PREFERRED [] synonym: "short syndrome" EXACT [OMIM:269880] xref: DOID:0111454 {source="MONDO:equivalentTo"} +xref: GARD:7633 {source="Orphanet:3163"} xref: ICD10CM:Q87.1 {source="Orphanet:3163/attributed", source="Orphanet:3163/ntbt", source="Orphanet:3163"} xref: MESH:C537327 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} @@ -193580,7 +196839,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010027 name: free sialic acid storage disease, infantile form -subset: gard_rare +subset: gard_rare {source="GARD:175"} subset: ordo_clinical_subtype {source="Orphanet:309324"} synonym: "infantile free sialic acid storage disease" RELATED [GARD:0000175] synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical, OMIM:269920] @@ -193590,6 +196849,7 @@ synonym: "N-acetylneuraminic acid storage disease" RELATED [OMIM:269920] synonym: "Nana storage disease" RELATED [OMIM:269920] synonym: "sialic acid storage disorder, infantile" EXACT [OMIM:269920, OMIM:genemap2] synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920] +xref: GARD:175 {source="Orphanet:309324"} xref: ICD10CM:E77.8 {source="Orphanet:309324", source="Orphanet:309324/attributed", source="Orphanet:309324/ntbt"} xref: MedDRA:10067532 {source="Orphanet:309324/e", source="Orphanet:309324"} xref: OMIM:269920 {source="Orphanet:309324/e", source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324"} @@ -193615,10 +196875,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010028 name: sialuria def: "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." [Orphanet:3166] +subset: gard_rare {source="GARD:4865"} subset: ordo_disease {source="Orphanet:3166"} synonym: "sialuria" EXACT [OMIM:269921] synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166] xref: DOID:3659 {source="MONDO:equivalentTo"} +xref: GARD:4865 {source="Orphanet:3166"} xref: ICD10CM:E77.8 {source="Orphanet:3166", source="Orphanet:3166/attributed", source="Orphanet:3166/ntbt"} xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067529 {source="Orphanet:3166", source="Orphanet:3166/e"} @@ -193639,6 +196901,7 @@ property_value: confidence "0.31172839506172845" xsd:double id: MONDO:0010029 name: situs inversus def: "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." [NCIT:P378] +subset: gard_rare {source="GARD:4883"} subset: ordo_morphological_anomaly {source="Orphanet:101063"} synonym: "complete situs inversus" EXACT [Orphanet:101063] synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063] @@ -193650,6 +196913,7 @@ synonym: "situs inversus" EXACT [Orphanet:101063] synonym: "situs inversus totalis" EXACT [MONDO:ambiguous] synonym: "situs inversus totalis (disease)" EXACT [MONDO:0015098] xref: DOID:758 {source="MONDO:equivalentTo"} +xref: GARD:4883 {source="Orphanet:101063"} xref: HP:0001696 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q89.3 {source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063/ntbt", source="Orphanet:101063/inclusion", source="Orphanet:101063"} xref: ICD9:759.3 {source="DOID:758"} @@ -193679,6 +196943,7 @@ id: MONDO:0010030 name: Sjogren syndrome def: "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" [https://rarediseases.info.nih.gov/diseases/10252/sjogren-syndrome] comment: Editor note: check for differences with Mik PMID:10845583 +subset: gard_rare {source="GARD:10252"} subset: ordo_disease synonym: "primary Sjogren-Gougerot syndrome" EXACT [Orphanet:289390] synonym: "primary Sjögren syndrome" RELATED [Orphanet:289390] @@ -193692,6 +196957,7 @@ synonym: "syndrome, Sjogren's" EXACT [NCIT:C26883] synonym: "xerodermosteosis" EXACT [DOID:12894] xref: DOID:12894 {source="MONDO:equivalentTo", source="EFO:0000699"} xref: EFO:0000699 {source="MONDO:equivalentTo"} +xref: GARD:10252 {source="Orphanet:289390"} xref: ICD10CM:M35.0 {source="DOID:12894"} xref: ICD10CM:M35.00 {source="DOID:12894"} xref: ICD9:710.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000699", source="DOID:12894"} @@ -193721,7 +196987,7 @@ relationship: disease_shares_features_of MONDO:0019191 {source="PMID:10845583"} id: MONDO:0010031 name: Sjogren-Larsson syndrome def: "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." [Orphanet:816] -subset: gard_rare {source="GARD:0007654"} +subset: gard_rare {source="GARD:7654"} subset: ordo_disease {source="Orphanet:816"} synonym: "FADH deficiency" RELATED [GARD:0007654] synonym: "FALDH deficiency" RELATED [OMIM:270200] @@ -193737,6 +197003,7 @@ synonym: "Sjögren-Larsson syndrome" RELATED [GARD:0007654] synonym: "SLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270200] xref: DOID:14501 {source="MONDO:equivalentTo"} xref: EFO:0007031 {source="MONDO:equivalentTo"} +xref: GARD:7654 {source="Orphanet:816"} xref: ICD10CM:Q87.1 {source="Orphanet:816", source="Orphanet:816/index", source="Orphanet:816/e"} xref: MedDRA:10048676 {source="Orphanet:816", source="Orphanet:816/e"} xref: MESH:D016111 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"} @@ -193775,6 +197042,7 @@ relationship: disease_shares_features_of MONDO:0010031 ! Sjogren-Larsson syndrom id: MONDO:0010033 name: generalized peeling skin syndrome def: "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." [Orphanet:263543] +subset: gard_rare {source="GARD:12862"} subset: ordo_disease {source="Orphanet:263543"} synonym: "generalised deciduous skin" EXACT OMO:0003005 [] synonym: "generalised PSS" EXACT OMO:0003005 [] @@ -193783,6 +197051,7 @@ synonym: "generalized PSS" EXACT [Orphanet:263543] synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300] synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300] synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270300] +xref: GARD:12862 {source="Orphanet:263543"} xref: ICD10CM:Q80.8 {source="Orphanet:263543", source="Orphanet:263543/attributed", source="Orphanet:263543/ntbt"} xref: Orphanet:263543 {source="MONDO:equivalentTo", source="OMIM:270300"} xref: Orphanet:263553 {source="OMIM:270300"} @@ -193808,7 +197077,7 @@ consider: HP:0000458 id: MONDO:0010035 name: Smith-Lemli-Opitz syndrome def: "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." [Orphanet:818] -subset: gard_rare {source="GARD:0005683"} +subset: gard_rare {source="GARD:5683"} subset: ordo_malformation_syndrome {source="Orphanet:818"} synonym: "7-dehydrocholesterol reductase deficiency" EXACT [Orphanet:818] synonym: "lethal acrodysgenital syndrome" RELATED [OMIM:270400] @@ -193822,6 +197091,7 @@ synonym: "Smith Lemli Opitz syndrome" RELATED [GARD:0005683] synonym: "Smith-Lemli-Opitz syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:270400] synonym: "Smith-Opitz-inborn syndrome" EXACT [DOID:14692] xref: DOID:14692 {source="MONDO:equivalentTo"} +xref: GARD:5683 {source="Orphanet:818"} xref: ICD10CM:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"} xref: ICD10CM:Q87.1 {source="Orphanet:818/inclusion", source="Orphanet:818", source="Orphanet:818/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -193849,6 +197119,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5683/smith-l id: MONDO:0010036 name: congenital secretory sodium diarrhea 3 def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18260"} synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [DOID:0060781] synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [DOID:0060781] synonym: "congenital secretory sodium diarrhea type 3" EXACT [DOID:0060781, MONDORULE:1] @@ -193866,6 +197137,7 @@ synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420] synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SPINT2 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060781 {source="MONDO:equivalentTo"} +xref: GARD:18260 {source="OMIM:270420"} xref: ICD10CM:P78.3 {source="DOID:0060781"} xref: OMIM:270420 {source="DOID:0060781", source="MONDO:equivalentTo"} xref: Orphanet:103908 {source="DOID:0060781", source="OMIM:270420"} @@ -193893,7 +197165,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010038 name: growth delay due to insulin-like growth factor I resistance def: "Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." [Orphanet:73273] -subset: gard_rare +subset: gard_rare {source="GARD:10609"} subset: ordo_disease {source="Orphanet:73273"} synonym: "growth delay due to insulin-like growth factor I resistance" EXACT CLINGEN_PREFERRED [] synonym: "IGF-1 resistance" RELATED [GARD:0010609] @@ -193907,6 +197179,7 @@ synonym: "Somatomedin end-organ insensitivity to" RELATED [GARD:0010609] synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450] synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609] synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450] +xref: GARD:10609 {source="Orphanet:73273"} xref: ICD10CM:E34.3 {source="Orphanet:73273/attributed", source="Orphanet:73273/ntbt", source="Orphanet:73273"} xref: MESH:C564816 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:270450 {source="GARD:0010609", source="Orphanet:73273/e", source="MONDO:equivalentTo", source="Orphanet:73273"} @@ -193923,9 +197196,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10609/insuli id: MONDO:0010039 name: congenital heart defect-round face-developmental delay syndrome def: "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." [Orphanet:1355] +subset: gard_rare {source="GARD:4905"} subset: ordo_malformation_syndrome {source="Orphanet:1355"} synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460] synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355] +xref: GARD:4905 {source="Orphanet:1355"} xref: ICD10CM:Q87.8 {source="Orphanet:1355/attributed", source="Orphanet:1355/ntbt", source="Orphanet:1355"} xref: MESH:C536680 {source="MONDO:equivalentTo"} xref: OMIM:270460 {source="Orphanet:1355", source="MONDO:equivalentTo", source="Orphanet:1355/e"} @@ -193954,6 +197229,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010041 name: Charlevoix-Saguenay spastic ataxia def: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." [Orphanet:98] +subset: gard_rare {source="GARD:4910"} subset: ordo_disease {source="Orphanet:98"} synonym: "ARSACS" EXACT ABBREVIATION [Orphanet:98] synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [OMIM:270550] @@ -193966,6 +197242,7 @@ synonym: "spastic ataxia of Charlevoix-Saguenay" RELATED [GARD:0004910] synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM:270550] synonym: "SPAX6" EXACT ABBREVIATION [Orphanet:98] xref: DOID:0050946 {source="MONDO:equivalentTo"} +xref: GARD:4910 {source="Orphanet:98"} xref: ICD10CM:G11.1 {source="Orphanet:98", source="Orphanet:98/attributed", source="Orphanet:98/ntbt"} xref: MESH:C536787 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e"} xref: OMIM:270550 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e", source="DOID:0050946"} @@ -193997,6 +197274,7 @@ is_a: MONDO:0003847 {source="MESH:C537481/inferred"} ! hereditary disease id: MONDO:0010043 name: hereditary spastic paraplegia 17 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:4219"} subset: ordo_disease {source="Orphanet:100998"} synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770] @@ -194013,6 +197291,7 @@ synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [DOID:0110 synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, Orphanet:100998] synonym: "SPG17" EXACT ABBREVIATION [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998] xref: DOID:0110770 {source="MONDO:equivalentTo"} +xref: GARD:4219 {source="Orphanet:100998"} xref: ICD10CM:G11.4 {source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/attributed", source="Orphanet:100998/ntbt"} xref: MESH:C536644 {source="MONDO:equivalentTo"} xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/e"} @@ -194031,6 +197310,7 @@ property_value: confidence "22.33333333333334" xsd:double id: MONDO:0010044 name: hereditary spastic paraplegia 15 def: "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." [Orphanet:100996] +subset: gard_rare {source="GARD:9581"} subset: ordo_disease {source="Orphanet:100996"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768] @@ -194048,6 +197328,7 @@ synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, synonym: "SPG15" EXACT ABBREVIATION [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996] synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110768 {source="MONDO:equivalentTo"} +xref: GARD:9581 {source="Orphanet:100996"} xref: ICD10CM:G11.4 {source="DOID:0110768", source="Orphanet:100996", source="Orphanet:100996/attributed", source="Orphanet:100996/ntbt"} xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} @@ -194085,6 +197366,7 @@ consider: MONDO:0014842 id: MONDO:0010046 name: hereditary spastic paraplegia 23 def: "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." [Orphanet:101003] +subset: gard_rare {source="GARD:336"} subset: ordo_disease {source="Orphanet:101003"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003] @@ -194101,6 +197383,7 @@ synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [DOID:0110774, synonym: "SPG 23" RELATED [GARD:0000336] synonym: "SPG23" EXACT ABBREVIATION [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003] xref: DOID:0110774 {source="MONDO:equivalentTo"} +xref: GARD:336 {source="Orphanet:101003"} xref: ICD10CM:G11.4 {source="Orphanet:101003", source="Orphanet:101003/attributed", source="Orphanet:101003/ntbt", source="DOID:0110774"} xref: MESH:C536859 {source="MONDO:equivalentTo"} xref: OMIM:270750 {source="Orphanet:101003", source="MONDO:equivalentTo", source="Orphanet:101003/e", source="DOID:0110774"} @@ -194118,6 +197401,7 @@ id: MONDO:0010047 name: hereditary spastic paraplegia 5A def: "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." [Orphanet:100986] comment: OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. {source="OMIM:270800"} +subset: gard_rare {source="GARD:4926"} subset: ordo_disease {source="Orphanet:100986"} synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810] @@ -194131,6 +197415,7 @@ synonym: "spastic paraplegia type 5A" RELATED [GARD:0004926] synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800] synonym: "SPG5A" EXACT ABBREVIATION [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986] xref: DOID:0110810 {source="MONDO:equivalentTo"} +xref: GARD:4926 {source="Orphanet:100986"} xref: ICD10CM:G11.4 {source="DOID:0110810", source="Orphanet:100986", source="Orphanet:100986/attributed", source="Orphanet:100986/ntbt"} xref: MESH:C536871 {source="Orphanet:100986", source="Orphanet:100986/e"} xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="Orphanet:100986", source="Orphanet:100986/e"} @@ -194156,11 +197441,13 @@ is_a: MONDO:0003847 {source="MESH:C564810/inferred"} ! hereditary disease id: MONDO:0010049 name: spastic paraplegia-glaucoma-intellectual disability syndrome def: "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." [Orphanet:2818] +subset: gard_rare {source="GARD:4931"} subset: ordo_disease {source="Orphanet:2818"} synonym: "spastic paresis glaucoma intellectual disability" RELATED [GARD:0004931] synonym: "spastic paresis glaucoma mental retardation" RELATED DEPRECATED [GARD:0004931] synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [OMIM:270850] synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [OMIM:270850] +xref: GARD:4931 {source="Orphanet:2818"} xref: MESH:C564809 {source="MONDO:equivalentTo"} xref: OMIM:270850 {source="Orphanet:2818/e", source="MONDO:equivalentTo", source="Orphanet:2818"} xref: Orphanet:2818 {source="MONDO:equivalentTo", source="OMIM:270850"} @@ -194195,6 +197482,7 @@ id: MONDO:0010051 name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome def: "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." [Orphanet:3011] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:4932"} subset: ordo_disease {source="Orphanet:3011"} synonym: "progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss" RELATED [GARD:0004932] synonym: "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss" RELATED DEPRECATED [GARD:0004932] @@ -194203,6 +197491,7 @@ synonym: "spastic quadriplegia retinitis pigmentosa mental retardation" RELATED synonym: "spastic quadriplegia, retinitis pigmentosa, and intellectual disability" RELATED [OMIM:270950] synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED DEPRECATED [OMIM:270950] synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011] +xref: GARD:4932 {source="Orphanet:3011"} xref: MESH:C564808 {source="MONDO:equivalentTo"} xref: OMIM:270950 {source="Orphanet:3011/e", source="MONDO:equivalentTo", source="Orphanet:3011"} xref: Orphanet:3011 {source="OMIM:270950", source="MONDO:equivalentTo"} @@ -194223,6 +197512,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010052 name: spermatogenic failure 4 def: "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15235"} subset: predisposition synonym: "arrest of spermatogenesis" RELATED [GARD:0008530] synonym: "azoospermia caused by mutation in SYCP3" EXACT [MONDO:design_pattern] @@ -194236,6 +197526,7 @@ synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1, OMIM:270960] synonym: "SPGF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270960] synonym: "SYCP3 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070176 {source="MONDO:equivalentTo"} +xref: GARD:15235 {source="OMIM:270960"} xref: MESH:C536875 {source="MONDO:equivalentTo"} xref: OMIM:270960 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:270960"} @@ -194253,6 +197544,7 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0010053 name: hereditary spherocytosis type 3 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15236"} synonym: "hereditary spherocytosis 3" EXACT [DOID:0110918] synonym: "hereditary spherocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "HS3" EXACT ABBREVIATION [DOID:0110918] @@ -194261,6 +197553,7 @@ synonym: "spherocytosis, hereditary, 3" RELATED [OMIM:270970] synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical, OMIM:270970] synonym: "SPTA1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110918 {source="MONDO:equivalentTo"} +xref: GARD:15236 {source="OMIM:270970"} xref: MESH:C567489 {source="MONDO:equivalentTo"} xref: OMIM:270970 {source="MONDO:equivalentTo", source="DOID:0110918"} xref: Orphanet:822 {source="OMIM:270970"} @@ -194294,7 +197587,7 @@ is_a: MONDO:0003847 {source="MESH:C564806/inferred"} ! hereditary disease id: MONDO:0010056 name: spinal muscular atrophy, type IV def: "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83420] -subset: gard_rare +subset: gard_rare {source="GARD:564"} subset: ordo_clinical_subtype {source="Orphanet:83420"} synonym: "adult spinal muscular atrophy" EXACT [DOID:0050529] synonym: "adult-onset spinal muscular atrophy" RELATED [GARD:0000564] @@ -194313,6 +197606,7 @@ synonym: "spinal muscular atrophy, type 4" RELATED [OMIM:271150] synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, OMIM:271150] synonym: "spinal muscular atrophy-4" EXACT [OMIM:271150, OMIM:genemap2] xref: DOID:0050529 {source="MONDO:equivalentTo"} +xref: GARD:564 {source="Orphanet:83420"} xref: ICD10CM:G12.1 {source="Orphanet:83420/inclusion", source="Orphanet:83420", source="Orphanet:83420/ntbt"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563948 {source="MONDO:equivalentTo"} @@ -194330,7 +197624,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010057 name: spinal muscular atrophy, Ryukyuan type -subset: gard_rare {source="GARD:0009646"} synonym: "Ryukyuan muscular atrophy" RELATED [GARD:0009646] synonym: "spinal muscular atrophy Ryukyuan type" RELATED [GARD:0009646] synonym: "spinal muscular atrophy, Ryukyuan type" EXACT [OMIM:271200] @@ -194364,6 +197657,7 @@ replaced_by: MONDO:0014806 id: MONDO:0010060 name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type) def: "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." [Orphanet:1186] +subset: gard_rare {source="GARD:4062"} subset: ordo_disease {source="Orphanet:1186"} synonym: "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" EXACT [] synonym: "infantile onset spinocerebellar ataxia" EXACT [OMIM:271245] @@ -194388,6 +197682,7 @@ synonym: "spinocerebellar ataxia, infantile-onset" RELATED [OMIM:271245] synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0050556 {source="MONDO:equivalentObsolete"} xref: DOID:0080126 {source="MONDO:equivalentTo"} +xref: GARD:4062 {source="Orphanet:1186"} xref: ICD10CM:G11.1 {source="Orphanet:1186", source="Orphanet:1186/attributed", source="Orphanet:1186/ntbt"} xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="Orphanet:1186/e"} xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="Orphanet:1186/e"} @@ -194406,6 +197701,7 @@ property_value: confidence "2.75" xsd:double [Term] id: MONDO:0010061 name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome +subset: gard_rare {source="GARD:9971"} subset: ordo_disease {source="Orphanet:95433"} synonym: "autosomal recessive cerebellar ataxia - blindness - deafness" RELATED [GARD:0009971] synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [Orphanet:95433] @@ -194417,6 +197713,7 @@ synonym: "spinocerebellar ataxia autosomal recessive 3" RELATED [GARD:0009971] synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:271250] synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250] xref: DOID:0111612 {source="MONDO:equivalentTo"} +xref: GARD:9971 {source="Orphanet:95433"} xref: ICD10CM:G11.1 {source="Orphanet:95433/attributed", source="Orphanet:95433/ntbt", source="Orphanet:95433"} xref: MESH:C537309 {source="MONDO:equivalentTo"} xref: OMIM:271250 {source="Orphanet:95433", source="MONDO:equivalentTo", source="Orphanet:95433/e"} @@ -194429,8 +197726,10 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010062 name: spinocerebellar ataxia-dysmorphism syndrome def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." [Orphanet:1185] +subset: gard_rare {source="GARD:4958"} subset: ordo_disease {source="Orphanet:1185"} synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270] +xref: GARD:4958 {source="Orphanet:1185"} xref: ICD10CM:G11.8 {source="Orphanet:1185/attributed", source="Orphanet:1185/ntbt", source="Orphanet:1185"} xref: MESH:C564802 {source="MONDO:equivalentTo"} xref: OMIM:271270 {source="Orphanet:1185/e", source="MONDO:equivalentTo", source="Orphanet:1185"} @@ -194443,6 +197742,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010063 name: corneal-cerebellar syndrome def: "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." [Orphanet:3177] +subset: gard_rare {source="GARD:1525"} subset: ordo_malformation_syndrome {source="Orphanet:3177"} synonym: "corneal cerebellar syndrome" RELATED [GARD:0001525] synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [OMIM:271310] @@ -194452,6 +197752,7 @@ synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [Orphanet:3177] synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:271310] synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525] synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177] +xref: GARD:1525 {source="Orphanet:3177"} xref: ICD10CM:G11.1 {source="Orphanet:3177", source="Orphanet:3177/attributed", source="Orphanet:3177/ntbt"} xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} @@ -194469,6 +197770,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010064 name: spastic ataxia-corneal dystrophy syndrome def: "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." [Orphanet:2572] +subset: gard_rare {source="GARD:3795"} subset: ordo_disease {source="Orphanet:2572"} synonym: "Bedouin spastic ataxia syndrome" EXACT [OMIM:271320, Orphanet:2572] synonym: "Mousa Al din Al Nassar syndrome" RELATED [GARD:0003795] @@ -194477,6 +197779,7 @@ synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopi synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks" RELATED [GARD:0003795] synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572] synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320] +xref: GARD:3795 {source="Orphanet:2572"} xref: ICD10CM:G11.8 {source="Orphanet:2572", source="Orphanet:2572/attributed", source="Orphanet:2572/ntbt"} xref: MESH:C536989 {source="MONDO:equivalentTo"} xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="Orphanet:2572/e"} @@ -194507,12 +197810,14 @@ property_value: confidence "0.19999999999999996" xsd:double id: MONDO:0010066 name: familial isolated congenital asplenia def: "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." [Orphanet:101351] +subset: gard_rare {source="GARD:16944"} subset: ordo_morphological_anomaly {source="Orphanet:101351"} synonym: "asplenia, familial" RELATED [OMIM:271400] synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400] synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400] synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271400] synonym: "splenic hypoplasia" RELATED [OMIM:271400] +xref: GARD:16944 {source="Orphanet:101351"} xref: ICD10CM:Q89.0 {source="Orphanet:101351/attributed", source="Orphanet:101351/ntbt", source="Orphanet:101351"} xref: MESH:C563028 {source="MONDO:equivalentTo"} xref: OMIM:271400 {source="Orphanet:101351/e", source="MONDO:equivalentTo", source="Orphanet:101351"} @@ -194546,7 +197851,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010068 name: spondyloepimetaphyseal dysplasia, sponastrime type def: "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." [NCIT:P378] -subset: gard_rare {source="GARD:0004970"} +subset: gard_rare {source="GARD:4970"} subset: ordo_disease {source="Orphanet:93357"} synonym: "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" RELATED [GARD:0004970] synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [OMIM:271510] @@ -194560,6 +197865,7 @@ synonym: "spondyloepimetaphyseal dysplasia Sponastrime type" RELATED [GARD:00049 synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93357] synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510] xref: DOID:5684 {source="MONDO:equivalentTo"} +xref: GARD:4970 {source="Orphanet:93357"} xref: ICD10CM:Q77.7 {source="Orphanet:93357", source="Orphanet:93357/attributed", source="Orphanet:93357/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535786 {source="MONDO:equivalentTo"} @@ -194604,10 +197910,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010070 name: brachyolmia type 1, Hobaek type +subset: gard_rare {source="GARD:995"} synonym: "BCYM1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271530] synonym: "brachyolmia type 1, Hobaek type" EXACT [MONDO:Lexical, OMIM:271530] synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530] synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530] +xref: GARD:995 {source="OMIM:271530"} xref: MESH:C537099 {source="MONDO:equivalentTo"} xref: OMIM:271530 {source="MONDO:equivalentTo"} xref: Orphanet:93301 {source="MONDO:equivalentObsolete", source="OMIM:271530"} @@ -194627,9 +197935,11 @@ replaced_by: MONDO:0011939 id: MONDO:0010072 name: spondyloepiphyseal dysplasia tarda, autosomal recessive def: "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:15237"} synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [MONDO:design_pattern] synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:271600] xref: DOID:0112293 {source="MONDO:equivalentTo"} +xref: GARD:15237 {source="OMIM:271600"} xref: MESH:C564797 {source="MONDO:equivalentTo"} xref: OMIM:271600 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:271600"} @@ -194644,12 +197954,14 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0010073 name: spondyloepiphyseal dysplasia tarda, Kohn type def: "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." [Orphanet:163665] +subset: gard_rare {source="GARD:16995"} subset: ordo_disease {source="Orphanet:163665"} synonym: "Sedt with intellectual disability" RELATED [OMIM:271620] synonym: "Sedt with mental retardation" RELATED DEPRECATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [OMIM:271620] xref: DOID:0112292 {source="MONDO:equivalentTo"} +xref: GARD:16995 {source="Orphanet:163665"} xref: ICD10CM:Q77.7 {source="Orphanet:163665", source="Orphanet:163665/attributed", source="Orphanet:163665/ntbt"} xref: MESH:C564796 {source="MONDO:equivalentTo"} xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="Orphanet:163665/e"} @@ -194665,6 +197977,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010074 name: brachyolmia type 1, toledo type +subset: gard_rare {source="GARD:4977"} synonym: "BCYM1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271630] synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630] synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630] @@ -194672,6 +197985,7 @@ synonym: "PAPS-chondroitin sulphate sulfotransferase deficiency" RELATED OMO:000 synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630] synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 [] synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630] +xref: GARD:4977 {source="OMIM:271630"} xref: MESH:C535787 {source="MONDO:equivalentTo"} xref: OMIM:271630 {source="MONDO:equivalentTo"} xref: Orphanet:93303 {source="MONDO:equivalentObsolete", source="OMIM:271630"} @@ -194705,10 +198019,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010076 name: spondyloepimetaphyseal dysplasia, Irapa type def: "A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:93351] +subset: gard_rare {source="GARD:16819"} subset: ordo_disease {source="Orphanet:93351"} synonym: "SEMD, Irapa type" EXACT [Orphanet:93351] synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650] synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650] +xref: GARD:16819 {source="Orphanet:93351"} xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="Orphanet:93351/attributed", source="Orphanet:93351/ntbt"} xref: MESH:C562958 {source="MONDO:equivalentTo"} xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="Orphanet:93351/e"} @@ -194723,6 +198039,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010077 name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome def: "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." [https://orcid.org/0000-0001-5208-3432, Orphanet:93358] +subset: gard_rare {source="GARD:10616"} subset: ordo_disease {source="Orphanet:93358"} synonym: "Smed short limb-abnormal calcification type" RELATED [GARD:0010616] synonym: "SMED short limb-hand type" RELATED [GARD:0010616] @@ -194738,6 +198055,7 @@ synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0 synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665] synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665] xref: DOID:0112196 {source="MONDO:equivalentTo"} +xref: GARD:10616 {source="Orphanet:93358"} xref: ICD10CM:Q77.7 {source="Orphanet:93358", source="Orphanet:93358/attributed", source="Orphanet:93358/ntbt"} xref: MESH:C564794 {source="MONDO:equivalentTo"} xref: OMIM:271665 {source="MONDO:equivalentTo", source="Orphanet:93358", source="Orphanet:93358/e"} @@ -194754,11 +198072,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010078 name: spondyloperipheral dysplasia def: "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe." [https://orcid.org/0000-0001-8612-1062] +subset: gard_rare {source="GARD:4994"} subset: ordo_disease {source="Orphanet:1856"} synonym: "spondyloperipheral dysplasia" EXACT [OMIM:271700] synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700] synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [https://orcid.org/0000-0001-8612-1062] xref: DOID:0112195 {source="MONDO:equivalentTo"} +xref: GARD:4994 {source="Orphanet:1856"} xref: ICD10CM:Q77.7 {source="Orphanet:1856/attributed", source="Orphanet:1856/ntbt", source="Orphanet:1856"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535799 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"} @@ -194778,7 +198098,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010079 name: Canavan disease def: "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." [Orphanet:141] -subset: gard_rare {source="GARD:0005984"} +subset: gard_rare {source="GARD:5984"} subset: ordo_disease {source="Orphanet:141"} synonym: "ACY2 deficiency" EXACT [Orphanet:141] synonym: "Acy2 deficiency" RELATED [OMIM:271900] @@ -194795,6 +198115,7 @@ synonym: "spongy degeneration of the brain" EXACT [Orphanet:141] synonym: "spongy degeneration of the central nervous system" RELATED [GARD:0005984] synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984] xref: DOID:3613 {source="MONDO:equivalentTo"} +xref: GARD:5984 {source="Orphanet:141"} xref: ICD10CM:E75.2 {source="Orphanet:141/ntbt", source="Orphanet:141", source="Orphanet:141/index"} xref: MedDRA:10067608 {source="Orphanet:141/e", source="Orphanet:141"} xref: MESH:D017825 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} @@ -194816,7 +198137,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5984/canavan id: MONDO:0010080 name: familial infantile bilateral striatal necrosis def: "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225154] -subset: gard_rare +subset: gard_rare {source="GARD:17141"} subset: ordo_clinical_subtype {source="Orphanet:225154"} synonym: "bilateral striatal Necrosis, infantile" RELATED [OMIM:271930] synonym: "familial bilateral striatal necrosis" RELATED [GARD:0010665] @@ -194829,6 +198150,7 @@ synonym: "infantile bilateral striatal necrosis" RELATED [OMIM:271930] synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271930] synonym: "striatal degeneration, familial" RELATED [OMIM:271930] synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930] +xref: GARD:17141 {source="Orphanet:225154"} xref: ICD10CM:G23.2 {source="Orphanet:225154/attributed", source="Orphanet:225154/ntbt", source="Orphanet:225154"} xref: OMIM:271930 {source="Orphanet:225154/e", source="MONDO:equivalentTo", source="Orphanet:225154"} xref: Orphanet:1576 {source="OMIM:271930"} @@ -194847,7 +198169,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10665/famili [Term] id: MONDO:0010081 name: subaortic stenosis, membranous +subset: gard_rare {source="GARD:18242"} synonym: "subaortic stenosis, membranous" EXACT [OMIM:271950] +xref: GARD:18242 {source="OMIM:271950"} xref: MESH:C564793 {source="MONDO:equivalentTo"} xref: OMIM:271950 {source="MONDO:equivalentTo"} xref: Orphanet:3092 {source="OMIM:271950"} @@ -194864,11 +198188,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010082 name: subaortic stenosis-short stature syndrome -subset: gard_rare {source="GARD:0000405"} +subset: gard_rare {source="GARD:405"} subset: ordo_malformation_syndrome {source="Orphanet:3191"} synonym: "Onat syndrome" EXACT [OMIM:271960, Orphanet:3191] synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405] synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960] +xref: GARD:405 {source="Orphanet:3191"} xref: MESH:C537749 {source="MONDO:equivalentTo"} xref: OMIM:271960 {source="MONDO:equivalentTo", source="Orphanet:3191", source="Orphanet:3191/e"} xref: Orphanet:3191 {source="MONDO:equivalentTo", source="OMIM:271960"} @@ -194883,7 +198208,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/405/subaorti id: MONDO:0010083 name: succinic semialdehyde dehydrogenase deficiency def: "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." [Orphanet:22] -subset: gard_rare {source="GARD:0007695"} +subset: gard_rare {source="GARD:7695"} subset: ordo_disease {source="Orphanet:22"} synonym: "4-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22] synonym: "GABA metabolic defect" RELATED [OMIM:271980] @@ -194895,6 +198220,7 @@ synonym: "Ssadh deficiency" RELATED [OMIM:271980] synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271980] synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:271980] xref: DOID:0060175 {source="MONDO:equivalentTo"} +xref: GARD:7695 {source="Orphanet:22"} xref: ICD10CM:E72.8 {source="Orphanet:22/attributed", source="Orphanet:22/ntbt", source="Orphanet:22"} xref: MESH:C535803 {source="MONDO:equivalentTo"} xref: OMIM:271980 {source="Orphanet:22", source="MONDO:equivalentTo", source="Orphanet:22/e"} @@ -194920,11 +198246,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010085 name: Schilder disease def: "Schilder's disease is a progressive demyelinating disorder of the central nervous system." [Orphanet:59298] +subset: gard_rare {source="GARD:16661"} subset: ordo_disease {source="Orphanet:59298"} synonym: "Myelinoclastic diffuse sclerosis" EXACT [Orphanet:59298] synonym: "Schilder disease" EXACT [OMIM:272100] synonym: "Schilder's disease" EXACT [Orphanet:59298] synonym: "SUDANOPHILIC cerebral sclerosis" RELATED [OMIM:272100] +xref: GARD:16661 {source="Orphanet:59298"} xref: ICD10CM:G37.0 {source="Orphanet:59298", source="Orphanet:59298/e"} xref: ICD9:341.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:272100 {source="MONDO:equivalentTo", source="Orphanet:59298", source="Orphanet:59298/e"} @@ -194940,7 +198268,6 @@ id: MONDO:0010086 name: obsolete sudden infant death syndrome def: "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." [https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome] comment: This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. -subset: gard_rare {source="GARD:0007711"} synonym: "cot death" EXACT [DOID:9007] synonym: "cot death (context-dependent category)" EXACT [DOID:9007] synonym: "crib death" EXACT [NCIT:C85173] @@ -194978,7 +198305,7 @@ is_obsolete: true id: MONDO:0010087 name: Sugarman brachydactyly def: "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." [Orphanet:498602] -subset: gard_rare {source="GARD:0005058"} +subset: gard_rare {source="GARD:5058"} subset: ordo_morphological_anomaly synonym: "brachydactyly of the hands and feet with duplication of the first toes" RELATED [GARD:0005058] synonym: "brachydactyly with Major proximal phalangeal shortening" RELATED [OMIM:272150] @@ -194986,6 +198313,7 @@ synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [DOID:0 synonym: "Sugarman brachydactyly" EXACT [OMIM:272150] synonym: "Sugarman-Hager-Kulik syndrome" EXACT [Orphanet:498602] xref: DOID:0110979 {source="MONDO:equivalentTo"} +xref: GARD:5058 {source="Orphanet:498602"} xref: OMIM:272150 {source="MONDO:equivalentTo", source="Orphanet:498602", source="DOID:0110979"} xref: Orphanet:498602 {source="MONDO:equivalentTo"} xref: UMLS:C0406726 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:272150"} @@ -194998,6 +198326,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5058/sugarma id: MONDO:0010088 name: mucosulfatidosis def: "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." [Orphanet:585] +subset: gard_rare {source="GARD:5061"} subset: ordo_disease {source="Orphanet:585"} synonym: "juvenile sulfatidosis" RELATED [GARD:0005061] synonym: "juvenile sulfatidosis, Austin type" EXACT [Orphanet:585] @@ -195008,6 +198337,7 @@ synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441] synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061] synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200] xref: DOID:0050441 {source="MONDO:equivalentTo"} +xref: GARD:5061 {source="Orphanet:585"} xref: ICD10CM:E75.2 {source="Orphanet:585/attributed", source="Orphanet:585/ntbt", source="Orphanet:585"} xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo"} @@ -195033,6 +198363,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010089 name: isolated sulfite oxidase deficiency +subset: gard_rare {source="GARD:5062"} subset: ordo_clinical_subtype {source="Orphanet:99731"} synonym: "ISOD" EXACT ABBREVIATION [OMIM:272300, Orphanet:99731] synonym: "isolated sulfite oxidase deficiency" EXACT CLINGEN_PREFERRED [] @@ -195041,6 +198372,7 @@ synonym: "sulfite oxidase deficiency, isolated" EXACT [OMIM:272300] synonym: "Sulfocysteinuria" EXACT [Orphanet:99731] synonym: "sulfocysteinuria" EXACT [OMIM:272300] xref: DOID:0111270 {source="MONDO:equivalentTo"} +xref: GARD:5062 {source="Orphanet:99731"} xref: ICD10CM:E72.1 {source="Orphanet:99731", source="Orphanet:99731/attributed", source="Orphanet:99731/ntbt"} xref: MESH:C538141 {source="MONDO:equivalentTo"} xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="Orphanet:99731/e"} @@ -195057,11 +198389,12 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0010090 name: Summitt syndrome def: "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." [Orphanet:3210] -subset: gard_rare {source="GARD:0000127"} +subset: gard_rare {source="GARD:127"} subset: ordo_malformation_syndrome {source="Orphanet:3210"} synonym: "recessive acrocephalosyndactyly with normal intelligence" RELATED [GARD:0000127] synonym: "Summitt syndrome" EXACT [OMIM:272350] synonym: "Summitt's acrocephalosyndactyly" RELATED [GARD:0000127] +xref: GARD:127 {source="Orphanet:3210"} xref: ICD10CM:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="Orphanet:3210/attributed", source="Orphanet:3210/ntbt"} xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} @@ -195078,6 +198411,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/127/summitt- id: MONDO:0010091 name: Cold-induced sweating syndrome 1 def: "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." [Orphanet:1545] +subset: gard_rare {source="GARD:1611"} subset: ordo_malformation_syndrome {source="Orphanet:1545"} synonym: "CISS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272430] synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical, OMIM:272430] @@ -195088,6 +198422,7 @@ synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [OMIM:272430] synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [OMIM:272430] synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430] xref: DOID:0080329 {source="MONDO:equivalentTo"} +xref: GARD:1611 {source="Orphanet:1545"} xref: ICD10CM:G90.8 {source="Orphanet:1545", source="Orphanet:1545/attributed", source="Orphanet:1545/ntbt"} xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="Orphanet:1545/e"} xref: OMIM:272430 {source="MONDO:equivalentTo"} @@ -195105,7 +198440,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0010092 name: Filippi syndrome def: "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." [Orphanet:3255] -subset: gard_rare +subset: gard_rare {source="GARD:62"} subset: ordo_malformation_syndrome {source="Orphanet:3255"} synonym: "FILIPPI syndrome" RELATED [OMIM:272440] synonym: "Filippi syndrome" EXACT [MONDO:Lexical, OMIM:272440] @@ -195120,6 +198455,7 @@ synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT synonym: "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly" RELATED [GARD:0000062] synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED DEPRECATED [GARD:0000062] xref: DOID:0112194 {source="MONDO:equivalentTo"} +xref: GARD:62 {source="Orphanet:3255"} xref: ICD10CM:Q87.8 {source="Orphanet:3255", source="Orphanet:3255/attributed", source="Orphanet:3255/ntbt"} xref: MESH:C538152 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e"} xref: OMIM:272440 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="GARD:0000062"} @@ -195150,7 +198486,7 @@ is_a: MONDO:0003847 {source="MESH:C537869/inferred"} ! hereditary disease id: MONDO:0010094 name: spondylocarpotarsal synostosis syndrome def: "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." [Orphanet:3275] -subset: gard_rare {source="GARD:0004974"} +subset: gard_rare {source="GARD:4974"} subset: ordo_malformation_syndrome {source="Orphanet:3275"} synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [DOID:0090116] synonym: "congenital synspondylism" EXACT [DOID:0090116] @@ -195165,6 +198501,7 @@ synonym: "Synspondylism congenital" RELATED [GARD:0004974] synonym: "Synspondylism, congenital" RELATED [OMIM:272460] synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:272460] xref: DOID:0090116 {source="MONDO:equivalentTo"} +xref: GARD:4974 {source="Orphanet:3275"} xref: ICD10CM:Q76.4 {source="Orphanet:3275/attributed", source="Orphanet:3275/ntbt", source="DOID:0090116", source="Orphanet:3275"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535780 {source="MONDO:equivalentTo"} @@ -195183,8 +198520,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4974/spondyl [Term] id: MONDO:0010095 name: ataxia-tapetoretinal degeneration syndrome +subset: gard_rare {source="GARD:16559"} subset: ordo_disease {source="Orphanet:1178"} synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600] +xref: GARD:16559 {source="Orphanet:1178"} xref: MESH:C564788 {source="MONDO:equivalentTo"} xref: OMIM:272600 {source="Orphanet:1178", source="MONDO:equivalentTo", source="Orphanet:1178/e"} xref: Orphanet:1178 {source="OMIM:272600", source="MONDO:equivalentTo"} @@ -195240,6 +198579,7 @@ property_value: IAO:0000589 "taurodontism (disease)" xsd:string id: MONDO:0010099 name: Tay-Sachs disease AB variant def: "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." [Orphanet:309246] +subset: gard_rare {source="GARD:17406"} subset: ordo_disease {source="Orphanet:309246"} synonym: "Ab variant GM2-gangliosidosis" RELATED [OMIM:272750] synonym: "GM2 activator deficiency" RELATED [OMIM:272750] @@ -195249,6 +198589,7 @@ synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:3092 synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750] synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795] xref: DOID:4795 {source="MONDO:equivalentTo"} +xref: GARD:17406 {source="Orphanet:309246"} xref: ICD10CM:E75.0 {source="Orphanet:309246/attributed", source="Orphanet:309246/ntbt", source="Orphanet:309246"} xref: MESH:D049290 {source="DOID:4795", source="MONDO:equivalentTo"} xref: NCIT:C133084 {source="MONDO:equivalentTo"} @@ -195265,7 +198606,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010100 name: Tay-Sachs disease def: "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." [Orphanet:845] -subset: gard_rare {source="GARD:0007737"} +subset: gard_rare {source="GARD:7737"} subset: ordo_disease {source="Orphanet:845"} synonym: "B variant GM2 gangliosidosis" RELATED [GARD:0007737] synonym: "B variant GM2-gangliosidosis" RELATED [OMIM:272800] @@ -195291,6 +198632,7 @@ synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [OMIM:272800] synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800] synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272800] xref: DOID:3320 {source="MONDO:equivalentTo"} +xref: GARD:7737 {source="Orphanet:845"} xref: ICD10CM:E75.0 {source="Orphanet:845/ntbt", source="Orphanet:845/inclusion", source="Orphanet:845"} xref: ICD10CM:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"} xref: MedDRA:10043147 {source="Orphanet:845", source="Orphanet:845/e"} @@ -195324,12 +198666,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7737/tay-sac id: MONDO:0010101 name: Teebi-Shaltout syndrome def: "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." [Orphanet:3291] -subset: gard_rare {source="GARD:0005125"} +subset: gard_rare {source="GARD:5125"} subset: ordo_malformation_syndrome {source="Orphanet:3291"} synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [OMIM:272950] synonym: "TBSH" RELATED ABBREVIATION [OMIM:272950] synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125] synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950] +xref: GARD:5125 {source="Orphanet:3291"} xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"} @@ -195344,7 +198687,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5125/teebi-s id: MONDO:0010102 name: taurodontia-absent teeth-sparse hair syndrome def: "This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." [Orphanet:2731] -subset: gard_rare {source="GARD:0005118"} subset: ordo_malformation_syndrome {source="Orphanet:2731"} synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980] synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118] @@ -195371,7 +198713,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010104 name: non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome def: "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." [Orphanet:2972] -subset: gard_rare +subset: gard_rare {source="GARD:5027"} subset: ordo_malformation_syndrome {source="Orphanet:2972"} synonym: "multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005027] synonym: "multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005127] @@ -195380,6 +198722,7 @@ synonym: "Stoelinga de Koomen Davis syndrome" RELATED [GARD:0005027] synonym: "Stoelinga-de Koomen-Davis syndrome" EXACT [Orphanet:2972] synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATED [GARD:0005127] synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050] +xref: GARD:5027 {source="Orphanet:2972"} xref: MESH:C536952 {source="Orphanet:2972", source="Orphanet:2972/e"} xref: MESH:C537496 {source="Orphanet:2972", source="Orphanet:2972/e"} xref: OMIM:273050 {source="GARD:0005027", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo", source="Orphanet:2972/e"} @@ -195422,6 +198765,7 @@ id: MONDO:0010108 name: testicular germ cell tumor def: "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C8591] subset: disease_grouping +subset: gard_rare {source="GARD:13047"} subset: ordo_group_of_disorders {source="Orphanet:363504"} synonym: "embryonal cell carcinoma" RELATED [OMIM:273300] synonym: "endodermal sinus tumor" RELATED [OMIM:273300] @@ -195452,6 +198796,7 @@ synonym: "testis germ cell tumour" EXACT OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300] xref: DOID:5557 {source="MONDO:equivalentTo"} xref: EFO:1000566 {source="MONDO:equivalentTo"} +xref: GARD:13047 {source="Orphanet:363504"} xref: ICD10CM:C62.1 {source="Orphanet:363504", source="Orphanet:363504/ntbt"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563236 {source="DOID:5557", source="MONDO:equivalentTo"} @@ -195484,7 +198829,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010109 name: tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities -subset: gard_rare {source="GARD:0005146"} synonym: "Madokoro Ohdo Sonoda syndrome" RELATED [GARD:0003348] synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" RELATED [GARD:0003348] synonym: "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" EXACT [OMIM:273390] @@ -195501,6 +198845,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5146/tetraam id: MONDO:0010110 name: tetraamelia-multiple malformations syndrome def: "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." [Orphanet:3301] +subset: gard_rare {source="GARD:386"} subset: ordo_malformation_syndrome {source="Orphanet:3301"} synonym: "TETAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273395] synonym: "Tetraamelia multiple malformations X-linked" RELATED [GARD:0000386] @@ -195508,6 +198853,7 @@ synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMI synonym: "Zimmer phocomelia" EXACT [Orphanet:3301] synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386] xref: DOID:0112191 {source="MONDO:equivalentTo"} +xref: GARD:386 {source="Orphanet:3301"} xref: ICD10CM:Q87.8 {source="Orphanet:3301", source="Orphanet:3301/attributed", source="Orphanet:3301/ntbt"} xref: MESH:C536500 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"} xref: OMIMPS:273395 {source="OMIM:equivalentTo"} @@ -195527,13 +198873,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010111 name: odontotrichomelic syndrome def: "Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." [Orphanet:2723] -subset: gard_rare +subset: gard_rare {source="GARD:2381"} subset: ordo_malformation_syndrome {source="Orphanet:2723"} synonym: "Freire-Maia odontotrichomelic syndrome" EXACT [MONDO:0023191] synonym: "Freire-Maia syndrome" EXACT [Orphanet:2723] synonym: "odontotrichomelic hypohidrotic dysplasia" EXACT [GARD:0002381, MESH:C535637] synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400] +xref: GARD:2381 {source="Orphanet:2723"} xref: MESH:C535637 {source="MONDO:equivalentTo"} xref: OMIM:273400 {source="MONDO:equivalentTo", source="Orphanet:2723", source="Orphanet:2723/e"} xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"} @@ -195549,7 +198896,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2381/freire- [Term] id: MONDO:0010112 name: thalamic degeneration, symmetric infantile -subset: gard_rare {source="GARD:0005160"} synonym: "symmetric infantile thalamic degeneration" RELATED [GARD:0005160] synonym: "symmetrical thalamic degeneration in infants" RELATED [GARD:0005160] synonym: "thalamic degeneration, symmetric infantile" EXACT [OMIM:273490] @@ -195587,10 +198933,11 @@ is_a: MONDO:0017042 {source="DC-OMIM:273680", source="MESH:C536506"} ! thanatoph [Term] id: MONDO:0010115 name: thoracic dysplasia-hydrocephalus syndrome -subset: gard_rare {source="GARD:0005180"} +subset: gard_rare {source="GARD:5180"} subset: ordo_malformation_syndrome {source="Orphanet:1861"} synonym: "thoracic dysplasia hydrocephalus syndrome" RELATED [GARD:0005180] synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730] +xref: GARD:5180 {source="Orphanet:1861"} xref: ICD10CM:Q87.8 {source="Orphanet:1861/ntbt", source="Orphanet:1861"} xref: MESH:C564774 {source="MONDO:equivalentTo"} xref: OMIM:273730 {source="Orphanet:1861", source="MONDO:equivalentTo", source="Orphanet:1861/e"} @@ -195603,12 +198950,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5180/thoraci [Term] id: MONDO:0010116 name: thoracomelic dysplasia +subset: gard_rare {source="GARD:10612"} subset: ordo_disease {source="Orphanet:1803"} synonym: "'thoraco-limb' dysplasia" RELATED [OMIM:273740] synonym: "Rivera-Perez-Salas syndrome" EXACT [Orphanet:1803] synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612] synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803] synonym: "thoracomelic dysplasia" EXACT [OMIM:273740] +xref: GARD:10612 {source="Orphanet:1803"} xref: ICD10CM:Q77.2 {source="Orphanet:1803/attributed", source="Orphanet:1803/ntbt", source="Orphanet:1803"} xref: MESH:C564773 {source="MONDO:equivalentTo"} xref: OMIM:273740 {source="Orphanet:1803/e", source="MONDO:equivalentTo", source="Orphanet:1803"} @@ -195625,6 +198974,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0010117 name: 3M syndrome 1 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15239"} synonym: "3-M syndrome 1" EXACT [OMIM:273750, OMIM:genemap2] synonym: "3-M syndrome caused by mutation in CUL7" EXACT [] synonym: "3-M syndrome caused by mutation in Cul7" EXACT [MONDO:design_pattern] @@ -195638,6 +198988,7 @@ synonym: "Le Merrer syndrome" RELATED [OMIM:273750] synonym: "three M syndrome 1" EXACT [MONDO:Lexical, OMIM:273750] synonym: "three M syndrome type 1" EXACT [MONDORULE:1, OMIM:273750] synonym: "Yakut short stature syndrome" RELATED [OMIM:273750] +xref: GARD:15239 {source="OMIM:273750"} xref: OMIM:273750 {source="MONDO:equivalentTo"} xref: Orphanet:2616 {source="OMIM:273750"} xref: UMLS:C1848862 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -195674,9 +199025,11 @@ replaced_by: MONDO:0031332 [Term] id: MONDO:0010120 name: thrombocytopenia 3 +subset: gard_rare {source="GARD:18288"} synonym: "THC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273900] synonym: "thrombocytopenia 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:273900] synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [OMIM:273900] +xref: GARD:18288 {source="OMIM:273900"} xref: MESH:C567487 {source="MONDO:equivalentTo"} xref: OMIM:273900 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="OMIM:273900"} @@ -195690,6 +199043,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0010121 name: thrombocytopenia-absent radius syndrome def: "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." [Orphanet:3320] +subset: gard_rare {source="GARD:5116"} subset: ordo_malformation_syndrome {source="Orphanet:3320"} synonym: "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" EXACT [DECIPHER:64] synonym: "absent radii and thrombocytopenia" RELATED [GARD:0005116] @@ -195705,6 +199059,7 @@ synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699] synonym: "thrombocytopenia-absent radius syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:274000] xref: DECIPHER:64 {source="MONDO:equivalentTo"} xref: DOID:14699 {source="MONDO:equivalentTo"} +xref: GARD:5116 {source="Orphanet:3320"} xref: ICD10CM:Q87.2 {source="Orphanet:3320", source="Orphanet:3320/ntbt", source="Orphanet:3320/inclusion", source="DOID:14699"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071719 {source="Orphanet:3320", source="Orphanet:3320/e"} @@ -195728,6 +199083,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010122 name: congenital thrombotic thrombocytopenic purpura def: "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93583] +subset: gard_rare {source="GARD:9430"} subset: ordo_clinical_subtype {source="Orphanet:93583"} synonym: "congenital ADAMTS-13 deficiency" EXACT [Orphanet:93583] synonym: "congenital ADAMTS13 deficiency" EXACT [NCIT:C131657] @@ -195748,6 +199104,7 @@ synonym: "TTP, congenital" RELATED [GARD:0009430] synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150] synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583] synonym: "USS" RELATED ABBREVIATION [GARD:0009430] +xref: GARD:9430 {source="Orphanet:93583"} xref: ICD10CM:M31.3 {source="Orphanet:93583/attributed", source="Orphanet:93583/ntbt", source="MONDO:relatedTo", source="Orphanet:93583"} xref: ICD9:287.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131657 {source="MONDO:equivalentTo"} @@ -195773,8 +199130,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010123 name: absent thumb-short stature-immunodeficiency syndrome def: "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951] +subset: gard_rare {source="GARD:16615"} subset: ordo_malformation_syndrome {source="Orphanet:2951"} synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] +xref: GARD:16615 {source="Orphanet:2951"} xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"} xref: MESH:C564770 {source="MONDO:equivalentTo"} xref: OMIM:274190 {source="Orphanet:2951", source="MONDO:equivalentTo", source="Orphanet:2951/e"} @@ -195799,8 +199158,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010125 name: upper limb defect-eye and ear abnormalities syndrome def: "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." [Orphanet:2489] +subset: gard_rare {source="GARD:16602"} subset: ordo_malformation_syndrome {source="Orphanet:2489"} synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205] +xref: GARD:16602 {source="Orphanet:2489"} xref: ICD10CM:Q87.8 {source="Orphanet:2489/attributed", source="Orphanet:2489/ntbt", source="Orphanet:2489"} xref: MESH:C564769 {source="MONDO:equivalentTo"} xref: OMIM:274205 {source="Orphanet:2489", source="MONDO:equivalentTo", source="Orphanet:2489/e"} @@ -195840,10 +199201,12 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0010128 name: thyrocerebrorenal syndrome def: "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." [Orphanet:3327] +subset: gard_rare {source="GARD:1646"} subset: ordo_malformation_syndrome {source="Orphanet:3327"} synonym: "cutler-Bass-Romshe syndrome" EXACT [Orphanet:3327] synonym: "Thyrocerebral-retinal syndrome" RELATED [GARD:0005203] synonym: "THYROCEREBRORETINAL syndrome" RELATED [OMIM:274240] +xref: GARD:1646 {source="Orphanet:3327"} xref: MESH:C536908 {source="MONDO:equivalentTo"} xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="Orphanet:3327/e"} xref: Orphanet:3327 {source="MONDO:equivalentTo", source="OMIM:274240"} @@ -195857,10 +199220,11 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010129 name: thymic-renal-anal-lung dysplasia def: "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." [Orphanet:3326] -subset: gard_rare {source="GARD:0005202"} +subset: gard_rare {source="GARD:5202"} subset: ordo_malformation_syndrome {source="Orphanet:3326"} synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202] synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265] +xref: GARD:5202 {source="Orphanet:3326"} xref: ICD10CM:Q87.8 {source="Orphanet:3326", source="Orphanet:3326/attributed", source="Orphanet:3326/ntbt"} xref: MESH:C536907 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} xref: OMIM:274265 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} @@ -195875,7 +199239,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5202/thymic- id: MONDO:0010130 name: dihydropyrimidine dehydrogenase deficiency def: "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency] -subset: gard_rare {source="GARD:0000019"} +subset: gard_rare {source="GARD:19"} subset: ordo_disease {source="Orphanet:1675"} synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [OMIM:274270] synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, NCIT:C3964] @@ -195889,6 +199253,7 @@ synonym: "pyrimidinemia, familial" RELATED [OMIM:274270] synonym: "thymine-uracilurea" EXACT [DOID:14218] synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270] xref: DOID:14218 {source="MONDO:equivalentTo"} +xref: GARD:19 {source="Orphanet:1675"} xref: ICD10CM:E79.8 {source="Orphanet:1675/attributed", source="Orphanet:1675/ntbt", source="Orphanet:1675"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052622 {source="Orphanet:1675", source="Orphanet:1675/e"} @@ -195915,7 +199280,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/19/dihydropy id: MONDO:0010131 name: thyroid hormone resistance, generalized, autosomal recessive def: "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." [NCIT:C85191] -subset: gard_rare synonym: "GRTH" RELATED ABBREVIATION [GARD:0000301, MONDO:Lexical, OMIM:274300] synonym: "Gthr" RELATED [OMIM:274300] synonym: "Refetoff syndrome" RELATED [GARD:0000301, OMIM:274300] @@ -195945,11 +199309,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010132 name: familial thyroid dyshormonogenesis def: "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." [Orphanet:95716] +subset: gard_rare {source="GARD:16843"} subset: ordo_disease {source="Orphanet:95716"} synonym: "dyshormonogenesis" BROAD [NCIT:C121751] synonym: "nongoitrous hyperthyrotropinemia" EXACT [https://orcid.org/0000-0001-7451-4467, https://orcid.org/0000-0002-0736-9199] synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716] xref: DOID:0112183 {source="MONDO:equivalentTo"} +xref: GARD:16843 {source="Orphanet:95716"} xref: ICD10CM:E03.0 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"} xref: ICD10CM:E03.1 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"} xref: MESH:C564766 {source="MONDO:equivalentTo"} @@ -195966,6 +199332,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010133 name: thyroid dyshormonogenesis 2A def: "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." [NCIT:C121750] +subset: gard_rare {source="GARD:18189"} synonym: "familial thyroid dyshormonogenesis caused by mutation in TPO" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2A" EXACT [OMIM:274500] synonym: "iodide peroxidase deficiency" RELATED [OMIM:274500] @@ -195976,6 +199343,7 @@ synonym: "thyroid hormonogenesis, genetic defect in, 2A" EXACT [OMIM:274500] synonym: "thyroid peroxidase deficiency" RELATED [OMIM:274500] synonym: "TPO familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112186 {source="MONDO:equivalentTo"} +xref: GARD:18189 {source="OMIM:274500"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563206 {source="MONDO:equivalentTo"} xref: NCIT:C121750 {source="MONDO:equivalentTo"} @@ -195995,6 +199363,7 @@ id: MONDO:0010134 name: Pendred syndrome def: "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." [Orphanet:705] subset: clingen +subset: gard_rare {source="GARD:4271"} subset: ordo_malformation_syndrome {source="Orphanet:705"} synonym: "autosomal recessive sensorineural hearing impairment and goiter" RELATED [GARD:0004271] synonym: "autosomal recessive sensorineural hearing impairment and goitre" RELATED OMO:0003005 [] @@ -196010,6 +199379,7 @@ synonym: "TDH2B" EXACT ABBREVIATION [DOID:0060744] synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600] synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600] xref: DOID:0060744 {source="MONDO:equivalentTo"} +xref: GARD:4271 {source="Orphanet:705"} xref: ICD10CM:E07.1 {source="Orphanet:705/inclusion", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/ntbt"} xref: MESH:C536648 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: NCIT:C121745 {source="MONDO:equivalentTo"} @@ -196028,6 +199398,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010135 name: thyroid dyshormonogenesis 3 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18190"} synonym: "familial thyroid dyshormonogenesis caused by mutation in TG" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 3" EXACT [OMIM:274700] synonym: "TDH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274700] @@ -196036,6 +199407,7 @@ synonym: "thyroid dyshormonogenesis 3" EXACT [MONDO:Lexical, OMIM:274700] synonym: "thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1, OMIM:274700] synonym: "thyroid hormonogenesis, genetic defect in, 3" EXACT [OMIM:274700] xref: DOID:0112187 {source="MONDO:equivalentTo"} +xref: GARD:18190 {source="OMIM:274700"} xref: MESH:C562769 {source="MONDO:equivalentTo"} xref: OMIM:274700 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274700"} @@ -196051,6 +199423,7 @@ property_value: confidence "0.736735294117647" xsd:double id: MONDO:0010136 name: thyroid dyshormonogenesis 4 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18191"} synonym: "deiodinase deficiency" RELATED [OMIM:274800] synonym: "familial thyroid dyshormonogenesis caused by mutation in IYD" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 4" EXACT [OMIM:274800] @@ -196061,6 +199434,7 @@ synonym: "thyroid dyshormonogenesis 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, O synonym: "thyroid dyshormonogenesis type 4" EXACT [MONDORULE:1, OMIM:274800] synonym: "thyroid hormonogenesis, genetic defect in, 4" EXACT [OMIM:274800] xref: DOID:0112188 {source="MONDO:equivalentTo"} +xref: GARD:18191 {source="OMIM:274800"} xref: MESH:C562770 {source="MONDO:equivalentTo"} xref: OMIM:274800 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274800"} @@ -196076,6 +199450,7 @@ property_value: confidence "0.736735294117647" xsd:double id: MONDO:0010137 name: thyroid dyshormonogenesis 5 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18192"} synonym: "DUOXA2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOXA2" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 5" EXACT [OMIM:274900] @@ -196084,6 +199459,7 @@ synonym: "thyroid dyshormonogenesis 5" EXACT [MONDO:Lexical, OMIM:274900] synonym: "thyroid dyshormonogenesis type 5" EXACT [MONDORULE:1, OMIM:274900] synonym: "thyroid hormonogenesis, genetic defect in, 5" EXACT [OMIM:274900] xref: DOID:0112184 {source="MONDO:equivalentTo"} +xref: GARD:18192 {source="OMIM:274900"} xref: MESH:C562771 {source="MONDO:equivalentTo"} xref: OMIM:274900 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274900"} @@ -196130,6 +199506,7 @@ is_a: MONDO:0005364 {source="DC-OMIM:275000"} ! Graves disease id: MONDO:0010139 name: isolated thyroid-stimulating hormone deficiency def: "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." [Orphanet:90674] +subset: gard_rare {source="GARD:10129"} subset: ordo_disease {source="Orphanet:90674"} synonym: "CHNG4" EXACT ABBREVIATION [DOID:0070123, MONDO:Lexical, OMIM:275100] synonym: "congenital nongoitrous hypothryoidism 4" RELATED [DOID:0070123] @@ -196146,6 +199523,7 @@ synonym: "thyrotropin deficiency, isolated" RELATED [OMIM:275100] synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100] synonym: "TSH deficiency" RELATED [OMIM:275100] xref: DOID:0070123 {source="MONDO:equivalentTo"} +xref: GARD:10129 {source="Orphanet:90674"} xref: ICD10CM:E03.1 {source="DOID:0070123", source="Orphanet:90674", source="Orphanet:90674/attributed", source="Orphanet:90674/ntbt"} xref: OMIM:275100 {source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674", source="Orphanet:90674/e"} xref: Orphanet:90674 {source="MONDO:equivalentTo", source="OMIM:275100"} @@ -196164,6 +199542,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010140 name: isolated thyrotropin-releasing hormone deficiency def: "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." [NCIT:C121741] +subset: gard_rare {source="GARD:17179"} subset: ordo_disease {source="Orphanet:238670"} synonym: "hypothalamic hypothyroidism" RELATED [OMIM:275120] synonym: "isolated prothyroliberin deficiency" EXACT [Orphanet:238670] @@ -196176,6 +199555,7 @@ synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670] synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741] synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120] synonym: "TRH deficiency" RELATED [OMIM:275120] +xref: GARD:17179 {source="Orphanet:238670"} xref: ICD10CM:E03.1 {source="Orphanet:238670/attributed", source="Orphanet:238670/ntbt", source="Orphanet:238670"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C121741 {source="MONDO:equivalentTo"} @@ -196191,7 +199571,6 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0010141 name: tiglic acidemia -subset: gard_rare {source="GARD:0009958"} synonym: "disorder of isoleucine metabolism" RELATED [GARD:0009958] synonym: "tiglic acidemia" EXACT [OMIM:275190] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -196206,6 +199585,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9958/tiglic- id: MONDO:0010142 name: hypothyroidism due to TSH receptor mutations def: "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." [Orphanet:90673] +subset: gard_rare {source="GARD:16793"} subset: ordo_disease {source="Orphanet:90673"} synonym: "CHNG1" EXACT ABBREVIATION [DOID:0070126, MONDO:Lexical, OMIM:275200] synonym: "congenital nongoitrous hypothryoidism 1" RELATED [DOID:0070126] @@ -196219,6 +199599,7 @@ synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200] synonym: "thyrotropin resistance" RELATED [OMIM:275200] synonym: "TSH resistance" EXACT [DOID:0070126] xref: DOID:0070126 {source="MONDO:equivalentTo"} +xref: GARD:16793 {source="Orphanet:90673"} xref: ICD10CM:E03.1 {source="DOID:0070126", source="Orphanet:90673", source="Orphanet:90673/attributed", source="Orphanet:90673/ntbt"} xref: OMIM:275200 {source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673", source="Orphanet:90673/e"} xref: Orphanet:90673 {source="MONDO:equivalentTo", source="OMIM:275200"} @@ -196243,6 +199624,7 @@ replaced_by: MONDO:0800042 id: MONDO:0010144 name: tibial hemimelia def: "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." [Orphanet:93322] +subset: gard_rare {source="GARD:8707"} subset: ordo_morphological_anomaly {source="Orphanet:93322"} synonym: "absence of tibia" RELATED [GARD:0008707] synonym: "bilateral absence of the tibia" RELATED [GARD:0008707] @@ -196253,6 +199635,7 @@ synonym: "Thm" RELATED [OMIM:275220] synonym: "tibia, absence of" RELATED [OMIM:275220] synonym: "tibial hemimelia" EXACT [OMIM:275220] synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322] +xref: GARD:8707 {source="Orphanet:93322"} xref: ICD10CM:Q72.5 {source="Orphanet:93322", source="Orphanet:93322/e", source="Orphanet:93322/specific"} xref: MESH:C535563 {source="MONDO:equivalentTo"} xref: OMIM:275220 {source="Orphanet:93322", source="MONDO:equivalentTo", source="Orphanet:93322/e"} @@ -196279,7 +199662,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010146 name: Kerion celsi def: "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." [Orphanet:499] -subset: gard_rare {source="GARD:0003109"} +subset: gard_rare {source="GARD:3109"} subset: ordo_disease {source="Orphanet:499"} synonym: "susceptibility to Tinea imbricata" RELATED [GARD:0003109] synonym: "Tinea capitis profunda" RELATED [GARD:0003109] @@ -196287,6 +199670,7 @@ synonym: "TINEA imbricata, susceptibility to" RELATED [OMIM:275240] synonym: "trichophytia profunda barbae" RELATED [GARD:0003109] synonym: "trichophytia profunda capitis" RELATED [GARD:0003109] synonym: "Trichophyton infection" RELATED [GARD:0003109] +xref: GARD:3109 {source="Orphanet:499"} xref: ICD10CM:B35.0 {source="Orphanet:499", source="Orphanet:499/ntbt"} xref: MESH:C536165 {source="Orphanet:499", source="Orphanet:499/e"} xref: OMIM:275240 {source="MONDO:equivalentTo"} @@ -196309,6 +199693,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010148 name: Mounier-Kuhn syndrome def: "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." [Orphanet:3347] +subset: gard_rare {source="GARD:3793"} subset: ordo_clinical_syndrome {source="Orphanet:3347"} synonym: "congenital tracheobronchomegaly" EXACT [Orphanet:3347] synonym: "idiopathic tracheobronchomegaly" EXACT [Orphanet:3347] @@ -196316,6 +199701,7 @@ synonym: "Mounier Kuhn syndrome" RELATED [GARD:0003793] synonym: "Mounier-Kuhn syndrome" EXACT [NCIT:C85196] synonym: "Mounier-Kühn syndrome" RELATED [Orphanet:3347] synonym: "tracheobronchomegaly" EXACT [OMIM:275300, Orphanet:3347] +xref: GARD:3793 {source="Orphanet:3347"} xref: ICD10CM:J98.0 {source="Orphanet:3347/ntbt", source="Orphanet:3347"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044316 {source="Orphanet:3347", source="Orphanet:3347/e"} @@ -196333,6 +199719,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare id: MONDO:0010149 name: transcobalamin II deficiency def: "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." [Orphanet:859] +subset: gard_rare {source="GARD:12338"} subset: ordo_disease {source="Orphanet:859"} synonym: "inherited deficiency of transcobalamin" EXACT [Orphanet:859] synonym: "TC 2 deficiency" RELATED [OMIM:275350] @@ -196342,6 +199729,7 @@ synonym: "transcobalamin 2 deficiency" RELATED [OMIM:275350] synonym: "transcobalamin deficiency" RELATED [Orphanet:859] synonym: "transcobalamin II deficiency" EXACT CLINGEN_PREFERRED [OMIM:275350, Orphanet:859] xref: DOID:0050818 {source="MONDO:equivalentTo"} +xref: GARD:12338 {source="Orphanet:859"} xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/attributed", source="Orphanet:859/ntbt"} xref: NCIT:C142806 {source="MONDO:equivalentTo"} xref: OMIM:275350 {source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818", source="Orphanet:859/e"} @@ -196406,6 +199794,7 @@ relationship: disease_has_basis_in_disruption_of GO:0006099 ! tricarboxylic acid id: MONDO:0010152 name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome def: "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." [Orphanet:3363] +subset: gard_rare {source="GARD:5266"} subset: ordo_malformation_syndrome {source="Orphanet:3363"} synonym: "eyelashes, long with intellectual disability" RELATED [GARD:0005266] synonym: "eyelashes, long, with intellectual disability" RELATED [OMIM:275400] @@ -196418,6 +199807,7 @@ synonym: "trichomegaly with intellectual disability, dwarfism and pigmentary deg synonym: "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina" RELATED [OMIM:275400] synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED DEPRECATED [OMIM:275400] xref: DOID:0111271 {source="MONDO:equivalentTo"} +xref: GARD:5266 {source="Orphanet:3363"} xref: MESH:C536554 {source="MONDO:equivalentTo"} xref: OMIM:275400 {source="Orphanet:3363/e", source="MONDO:equivalentTo", source="Orphanet:3363"} xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"} @@ -196431,10 +199821,11 @@ property_value: confidence "7.125" xsd:double id: MONDO:0010153 name: trichoodontoonychial dysplasia def: "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." [Orphanet:3355] -subset: gard_rare {source="GARD:0005267"} +subset: gard_rare {source="GARD:5267"} subset: ordo_malformation_syndrome {source="Orphanet:3355"} synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275450] synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355] +xref: GARD:5267 {source="Orphanet:3355"} xref: MESH:C564760 {source="MONDO:equivalentTo"} xref: OMIM:275450 {source="Orphanet:3355", source="MONDO:equivalentTo", source="Orphanet:3355/e"} xref: Orphanet:3355 {source="MONDO:equivalentTo", source="OMIM:275450"} @@ -196450,10 +199841,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5267/trichoo id: MONDO:0010154 name: trigonocephaly-bifid nose-acral anomalies syndrome def: "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." [Orphanet:3368] +subset: gard_rare {source="GARD:5126"} subset: ordo_malformation_syndrome {source="Orphanet:3368"} synonym: "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia" RELATED [GARD:0005126] synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [OMIM:275595] synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126] +xref: GARD:5126 {source="Orphanet:3368"} xref: ICD10CM:Q87.0 {source="Orphanet:3368/attributed", source="Orphanet:3368/ntbt", source="Orphanet:3368"} xref: MESH:C564759 {source="MONDO:equivalentTo"} xref: OMIM:275595 {source="Orphanet:3368", source="MONDO:equivalentTo", source="Orphanet:3368/e"} @@ -196467,6 +199860,7 @@ property_value: confidence "8.6" xsd:double [Term] id: MONDO:0010155 name: Dorfman-Chanarin disease +subset: gard_rare {source="GARD:3979"} subset: ordo_disease {source="Orphanet:98907"} synonym: "CDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275630] synonym: "Chanarin-Dorfman disease" RELATED [OMIM:275630] @@ -196482,6 +199876,7 @@ synonym: "neutral lipid storage disease with ichthyosis" EXACT [Orphanet:98907] synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979] synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630] +xref: GARD:3979 {source="Orphanet:98907"} xref: ICD10CM:E75.5 {source="Orphanet:98907/attributed", source="Orphanet:98907/ntbt", source="Orphanet:98907"} xref: OMIM:275630 {source="Orphanet:98907/e", source="MONDO:equivalentTo", source="Orphanet:98907", source="DOID:0050729"} xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"} @@ -196497,7 +199892,7 @@ property_value: confidence "2.6666666666666665" xsd:double id: MONDO:0010156 name: Troyer syndrome def: "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." [Orphanet:101000] -subset: gard_rare {source="GARD:0005372"} +subset: gard_rare {source="GARD:5372"} subset: ordo_disease {source="Orphanet:101000"} synonym: "autosomal recessive spastic paraplegia 20" EXACT [DOID:0050886] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [DOID:0050886] @@ -196515,6 +199910,7 @@ synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [OMIM:27 synonym: "SPG20" EXACT ABBREVIATION [DOID:0050886, MONDO:Lexical, OMIM:275900, Orphanet:101000] synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000] xref: DOID:0050886 {source="MONDO:equivalentTo"} +xref: GARD:5372 {source="Orphanet:101000"} xref: ICD10CM:G11.4 {source="Orphanet:101000", source="Orphanet:101000/attributed", source="Orphanet:101000/ntbt", source="DOID:0050886"} xref: ICD9:335.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536858 {source="MONDO:equivalentTo"} @@ -196534,7 +199930,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5372/troyer- [Term] id: MONDO:0010157 name: Tryptophanuria with dwarfism -subset: gard_rare {source="GARD:0004268"} synonym: "Tryptophanuria with dwarfism" EXACT [OMIM:276100] xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562658 {source="MONDO:equivalentTo"} @@ -196556,6 +199951,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010159 name: mismatch repair cancer syndrome 1 def: "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." [NCIT:P378] +subset: gard_rare {source="GARD:17217", source="GARD:420"} subset: ordo_disease {source="Orphanet:252202"} synonym: "brain tumor-polyposis syndrome" RELATED [GARD:0000420] synonym: "brain tumor-polyposis syndrome 1" EXACT [OMIM:276300] @@ -196577,6 +199973,8 @@ synonym: "MMR deficiency" RELATED [OMIM:276300] synonym: "MMRCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276300] synonym: "MMRCS1" EXACT ABBREVIATION [OMIM:276300] synonym: "Turcot syndrome" RELATED [OMIM:276300] +xref: GARD:17217 {source="Orphanet:252202"} +xref: GARD:420 {source="OMIM:276300"} xref: MESH:C536928 {source="MONDO:equivalentTo"} xref: NCIT:C130202 {source="MONDO:equivalentTo"} xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="Orphanet:252202/e"} @@ -196597,7 +199995,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010160 name: tyrosinemia type II def: "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." [Orphanet:28378] -subset: gard_rare {source="GARD:0003105"} +subset: gard_rare {source="GARD:3105"} subset: ordo_disease {source="Orphanet:28378"} synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [OMIM:276600] synonym: "keratosis palmoplantaris-corneal dystrophy syndrome" EXACT [Orphanet:28378] @@ -196618,6 +200016,7 @@ synonym: "Tyrosinosis oculocutaneous type" RELATED [GARD:0003105] synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600] synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276600] xref: DOID:0050725 {source="MONDO:equivalentTo"} +xref: GARD:3105 {source="Orphanet:28378"} xref: ICD10CM:E70.2 {source="Orphanet:28378/inclusion", source="Orphanet:28378/ntbt", source="Orphanet:28378"} xref: MedDRA:10069463 {source="Orphanet:28378/e", source="Orphanet:28378"} xref: NCIT:C129032 {source="MONDO:equivalentTo"} @@ -196642,7 +200041,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3105/tyrosin id: MONDO:0010161 name: tyrosinemia type I def: "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." [Orphanet:882] -subset: gard_rare {source="GARD:0002658"} +subset: gard_rare {source="GARD:2658"} subset: ordo_disease {source="Orphanet:882"} synonym: "FAH deficiency" EXACT [Orphanet:882] synonym: "Fah deficiency" RELATED [OMIM:276700] @@ -196656,6 +200055,7 @@ synonym: "tyrosinemia, type 1" RELATED [OMIM:276700] synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700] synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276700] xref: DOID:0050726 {source="MONDO:equivalentTo"} +xref: GARD:2658 {source="Orphanet:882"} xref: ICD10CM:E70.2 {source="Orphanet:882/ntbt", source="Orphanet:882/inclusion", source="Orphanet:882"} xref: MedDRA:10069462 {source="Orphanet:882/e", source="Orphanet:882"} xref: NCIT:C98641 {source="MONDO:equivalentTo"} @@ -196679,7 +200079,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2658/tyrosin id: MONDO:0010162 name: tyrosinemia type III def: "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." [Orphanet:69723] -subset: gard_rare {source="GARD:0010332"} +subset: gard_rare {source="GARD:10332"} subset: ordo_disease {source="Orphanet:69723"} synonym: "4-alpha hydroxyphenylpyruvate dioxygenase deficiency" RELATED [GARD:0010332] synonym: "4-alpha hydroxyphenylpyruvic acid oxidase deficiency" RELATED [GARD:0010332] @@ -196694,6 +200094,7 @@ synonym: "tyrosinemia, type 3" RELATED [OMIM:276710] synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710] synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276710] xref: DOID:0050727 {source="MONDO:equivalentTo"} +xref: GARD:10332 {source="Orphanet:69723"} xref: ICD10CM:E70.2 {source="Orphanet:69723", source="Orphanet:69723/attributed", source="Orphanet:69723/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069461 {source="Orphanet:69723", source="Orphanet:69723/e"} @@ -196723,7 +200124,7 @@ is_a: MONDO:0003847 {source="MESH:C562659/inferred"} ! hereditary disease id: MONDO:0010164 name: phocomelia, Schinzel type def: "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." [Orphanet:2879] -subset: gard_rare +subset: gard_rare {source="GARD:9212"} subset: ordo_malformation_syndrome {source="Orphanet:2879"} synonym: "AARRS" RELATED ABBREVIATION [GARD:0009212] synonym: "absence of ulna and fibula with severe limb deficiency" RELATED [GARD:0009212] @@ -196742,6 +200143,7 @@ synonym: "Teebi Naguib Al Awadi syndrome" RELATED [GARD:0005124] synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD:0009212] synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820] xref: DOID:0112181 {source="MONDO:equivalentTo"} +xref: GARD:9212 {source="Orphanet:2879"} xref: ICD10CM:Q87.2 {source="Orphanet:2879/attributed", source="Orphanet:2879/ntbt", source="Orphanet:2879"} xref: MESH:C535612 {source="MONDO:equivalentTo"} xref: OMIM:276820 {source="Orphanet:2879/e", source="MONDO:equivalentTo", source="Orphanet:2879", source="GARD:0005124"} @@ -196761,6 +200163,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010165 name: ulna hypoplasia-intellectual disability syndrome def: "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." [Orphanet:2249] +subset: gard_rare {source="GARD:5398"} subset: ordo_malformation_syndrome {source="Orphanet:2249"} synonym: "bilateral ulnar hypoplasia and intellectual disability" RELATED [GARD:0005398] synonym: "bilateral ulnar hypoplasia and mental retardation" RELATED DEPRECATED [GARD:0005398] @@ -196772,6 +200175,7 @@ synonym: "ulna hypoplasia with intellectual disability" RELATED [GARD:0005398] synonym: "ulna hypoplasia with mental retardation" RELATED DEPRECATED [GARD:0005398] synonym: "ulnar hypoplasia with intellectual disability" RELATED [OMIM:276821] synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [OMIM:276821] +xref: GARD:5398 {source="Orphanet:2249"} xref: ICD10CM:Q87.2 {source="Orphanet:2249", source="Orphanet:2249/attributed", source="Orphanet:2249/ntbt"} xref: MESH:C536934 {source="Orphanet:2249", source="Orphanet:2249/e"} xref: MESH:C564757 {source="MONDO:equivalentTo"} @@ -196798,6 +200202,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010167 name: urocanic aciduria def: "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." [Orphanet:210128] +subset: gard_rare {source="GARD:8539"} subset: ordo_disease {source="Orphanet:210128"} synonym: "encephalopathy due to urocanase deficiency" EXACT [Orphanet:210128] synonym: "urocanase deficiency" RELATED [MONDO:Lexical, OMIM:276880] @@ -196805,6 +200210,7 @@ synonym: "urocanic aciduria" EXACT CLINGEN_PREFERRED [MONDO:ambiguous] synonym: "urocanic aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276880] xref: DOID:0112180 {source="MONDO:equivalentTo"} +xref: GARD:8539 {source="Orphanet:210128"} xref: HP:0012237 {source="MONDO:otherHierarchy"} xref: ICD10CM:E70.8 {source="Orphanet:210128", source="Orphanet:210128/attributed", source="Orphanet:210128/ntbt"} xref: MESH:C536479 {source="MONDO:equivalentTo"} @@ -196823,7 +200229,7 @@ id: MONDO:0010168 name: Usher syndrome type 1 def: "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." [NCIT:C126327] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:5435"} subset: ordo_clinical_subtype {source="Orphanet:231169"} synonym: "retinitis pigmentosa and congenital deafness" EXACT [OMIM:276900] synonym: "US1" EXACT ABBREVIATION [DOID:0110826, OMIM:276900] @@ -196839,6 +200245,7 @@ synonym: "Usher syndrome, type I, French variety, formerly" RELATED [OMIM:276900 synonym: "Usher syndrome, type Ia" RELATED [OMIM:276900] synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900] xref: DOID:0110826 {source="MONDO:equivalentTo"} +xref: GARD:5435 {source="Orphanet:231169"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"} xref: NCIT:C126327 {source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"} @@ -196857,6 +200264,7 @@ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:2 id: MONDO:0010169 name: Usher syndrome type 2A def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15241"} synonym: "retinal disease in usher syndrome type IIA, modifier of" EXACT [OMIM:276901, OMIM:genemap2] synonym: "US2" RELATED ABBREVIATION [GARD:0005440] synonym: "USH2A" EXACT ABBREVIATION [DOID:0110838, MONDO:Lexical, OMIM:276901] @@ -196867,6 +200275,7 @@ synonym: "Usher syndrome type IIA" EXACT [DOID:0110838] synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901] synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901] xref: DOID:0110838 {source="MONDO:equivalentTo"} +xref: GARD:15241 {source="OMIM:276901"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110838"} xref: MESH:C536490 {source="MONDO:equivalentTo"} xref: OMIM:276901 {source="MONDO:equivalentTo", source="DOID:0110838"} @@ -196885,6 +200294,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010170 name: Usher syndrome type 3A def: "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15242"} synonym: "CLRN1 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "USH3A" EXACT ABBREVIATION [DOID:0110841, MONDO:Lexical, OMIM:276902] synonym: "Usher syndrome caused by mutation in CLRN1" EXACT [MONDO:design_pattern] @@ -196894,6 +200304,7 @@ synonym: "Usher syndrome, type 3" RELATED [OMIM:276902] synonym: "Usher syndrome, type 3A" RELATED [OMIM:276902] synonym: "USHER syndrome, type IIIA" RELATED [MONDO:Lexical, OMIM:276902] xref: DOID:0110841 {source="MONDO:equivalentTo"} +xref: GARD:15242 {source="OMIM:276902"} xref: ICD10CM:H35.5 {source="DOID:0110841", source="MONDO:relatedTo"} xref: OMIM:276902 {source="DOID:0110841", source="MONDO:equivalentTo"} xref: Orphanet:231183 {source="OMIM:276902"} @@ -196910,7 +200321,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010171 name: Usher syndrome type 1C def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." [OMIM:276904] -subset: gard_rare {source="GARD:0005437"} +subset: gard_rare {source="GARD:5437"} synonym: "USH1C" EXACT ABBREVIATION [DOID:0110830, MONDO:Lexical, OMIM:276904] synonym: "Usher syndrome type 1C" EXACT CLINGEN_PREFERRED [] synonym: "Usher syndrome type I Acadian variety" EXACT [DOID:0110830] @@ -196920,6 +200331,7 @@ synonym: "Usher syndrome, type 1C" RELATED [GARD:0005437] synonym: "Usher syndrome, type I, Acadian variety" RELATED [OMIM:276904] synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical, OMIM:276904] xref: DOID:0110830 {source="MONDO:equivalentTo"} +xref: GARD:5437 {source="OMIM:276904"} xref: ICD10CM:H35.5 {source="DOID:0110830", source="MONDO:relatedTo"} xref: OMIM:276904 {source="DOID:0110830", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:276904"} @@ -196935,6 +200347,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5437/usher-s id: MONDO:0010172 name: VACTERL with hydrocephalus def: "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." [Orphanet:3412] +subset: gard_rare {source="GARD:272"} subset: ordo_malformation_syndrome {source="Orphanet:3412"} synonym: "Sujansky-Leonard syndrome" EXACT [Orphanet:3412] synonym: "VACTERL association with hydrocephalus" RELATED [OMIM:276950] @@ -196944,6 +200357,7 @@ synonym: "VACTERL-H" RELATED [OMIM:276950] synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950] synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950] synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272] +xref: GARD:272 {source="Orphanet:3412"} xref: ICD10CM:Q87.8 {source="Orphanet:3412/attributed", source="Orphanet:3412/ntbt", source="Orphanet:3412"} xref: OMIM:276950 {source="Orphanet:3412", source="MONDO:equivalentTo", source="Orphanet:3412/e"} xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"} @@ -196962,7 +200376,7 @@ property_value: confidence "0.09739368998628262" xsd:double id: MONDO:0010173 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1 def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." [Orphanet:247775] -subset: gard_rare +subset: gard_rare {source="GARD:4737"} subset: ordo_clinical_subtype {source="Orphanet:247775"} synonym: "congenital absence of the uterus and vagina (CAUV)" RELATED [GARD:0007100] synonym: "congenital absence of uterus and vagina" EXACT [GARD:0007100, OMIM:277000, Orphanet:247775] @@ -196983,6 +200397,7 @@ synonym: "urogenital adysplasia" RELATED [OMIM:277000] synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000] synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000] xref: DOID:0112178 {source="MONDO:equivalentTo"} +xref: GARD:4737 {source="Orphanet:247775"} xref: ICD10CM:Q51.8 {source="Orphanet:247775/attributed", source="Orphanet:247775/ntbt", source="Orphanet:247775"} xref: ICD9:752.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:277000 {source="Orphanet:247775", source="MONDO:equivalentTo", source="Orphanet:247775/e", source="GARD:0007100"} @@ -197001,7 +200416,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7100/mulleri id: MONDO:0010174 name: Valinemia def: "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." [https://rarediseases.info.nih.gov/diseases/7845/valinemia] -subset: gard_rare {source="GARD:0007845"} synonym: "hypervalinemia" RELATED [OMIM:277100] synonym: "valine transaminase deficiency" RELATED [OMIM:277100] synonym: "Valinemia" EXACT [OMIM:277100] @@ -197015,7 +200429,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7845/valinem [Term] id: MONDO:0010175 name: van Bogaert-Hozay syndrome -subset: gard_rare {source="GARD:0008415"} synonym: "A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects" RELATED [GARD:0008415] synonym: "A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects" RELATED DEPRECATED [GARD:0008415] synonym: "acro-osteolysis-facial dysplasia syndrome" RELATED [GARD:0008415] @@ -197032,7 +200445,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8415/van-bog id: MONDO:0010176 name: orofaciodigital syndrome type 6 def: "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." [Orphanet:2754] -subset: gard_rare +subset: gard_rare {source="GARD:4412"} subset: ordo_disease {source="Orphanet:2754"} synonym: "Joubert syndrome with oral-facial-digital syndrome" EXACT [Orphanet:2754] synonym: "Joubert syndrome with orofaciodigital defect" EXACT [GARD:0004412] @@ -197052,6 +200465,7 @@ synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, OMIM:277170] synonym: "Váradi syndrome" RELATED [GARD:0004412] synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412] xref: DOID:0060376 {source="MONDO:equivalentTo"} +xref: GARD:4412 {source="Orphanet:2754"} xref: ICD10CM:Q04.3 {source="Orphanet:2754", source="Orphanet:2754/attributed", source="Orphanet:2754/ntbt"} xref: MESH:C536531 {source="DOID:0060376", source="MONDO:equivalentTo"} xref: NCIT:C124841 {source="MONDO:equivalentTo"} @@ -197075,6 +200489,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4412/polydac id: MONDO:0010177 name: vascular hyalinosis def: "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage." [Orphanet:3018] +subset: gard_rare {source="GARD:4635"} subset: ordo_malformation_syndrome {source="Orphanet:3018"} synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischaemic syndrome and phenotypic a" RELATED OMO:0003005 [] synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a" RELATED [GARD:0004635] @@ -197083,6 +200498,7 @@ synonym: "Rambaud-Gallian-Touchard syndrome" EXACT [Orphanet:3018] synonym: "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT OMO:0003005 [] synonym: "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT [Orphanet:3018] synonym: "vascular hyalinosis" EXACT [OMIM:277175] +xref: GARD:4635 {source="Orphanet:3018"} xref: ICD10CM:E78.8 {source="Orphanet:3018", source="Orphanet:3018/ntbt"} xref: MESH:C535283 {source="Orphanet:3018", source="Orphanet:3018/e"} xref: MESH:C564750 {source="MONDO:equivalentTo"} @@ -197098,12 +200514,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010178 name: congenital bilateral aplasia of vas deferens from CFTR mutation def: "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." [NCIT:C129303] +subset: gard_rare {source="GARD:15243"} synonym: "CAVD" RELATED ABBREVIATION [OMIM:277180] synonym: "CBAVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277180] synonym: "congenital bilateral absence of vas deferens" BROAD [OMIM:277180, OMIM:genemap2] synonym: "congenital bilateral aplasia of the vas deferens" BROAD [NCIT:C129303] synonym: "vas deferens, congenital bilateral aplasia of" BROAD [MONDO:Lexical, OMIM:277180] xref: DOID:0111864 {source="MONDO:equivalentTo"} +xref: GARD:15243 {source="OMIM:277180"} xref: NCIT:C129303 {source="MONDO:equivalentTo"} xref: OMIM:277180 {source="MONDO:equivalentTo"} xref: Orphanet:48 {source="OMIM:277180"} @@ -197119,6 +200537,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010179 name: isolated right ventricular hypoplasia def: "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." [Orphanet:439] +subset: gard_rare {source="GARD:4721"} subset: ordo_morphological_anomaly {source="Orphanet:439"} synonym: "hypoplasia of the right ventricle" RELATED [GARD:0004721] synonym: "Irvh" RELATED [OMIM:277200] @@ -197126,6 +200545,7 @@ synonym: "isolated hypoplasia of the right ventricle" RELATED [GARD:0004721] synonym: "right ventricle hypoplasia" RELATED [GARD:0004721] synonym: "right ventricular hypoplasia" RELATED [GARD:0004721] synonym: "right ventricular hypoplasia, isolated" RELATED [OMIM:277200] +xref: GARD:4721 {source="Orphanet:439"} xref: ICD10CM:Q22.6 {source="Orphanet:439", source="Orphanet:439/ntbt"} xref: MESH:C535682 {source="MONDO:equivalentTo"} xref: OMIM:277200 {source="MONDO:equivalentTo", source="Orphanet:439", source="Orphanet:439/e"} @@ -197140,12 +200560,14 @@ property_value: confidence "7.125" xsd:double id: MONDO:0010180 name: autosomal recessive spondylocostal dysostosis def: "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." [Orphanet:2311] +subset: gard_rare {source="GARD:6798"} subset: ordo_malformation_syndrome {source="Orphanet:2311"} synonym: "costovertebral dysplasia" RELATED [OMIM:277300] synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311] synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:6798 {source="Orphanet:2311"} xref: ICD10CM:Q76.8 {source="Orphanet:2311", source="Orphanet:2311/attributed", source="Orphanet:2311/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535781 {source="Orphanet:2311", source="MONDO:equivalentTo", source="Orphanet:2311/e"} @@ -197165,6 +200587,7 @@ property_value: confidence "0.05300000000000038" xsd:double id: MONDO:0010181 name: oculogastrointestinal muscular dystrophy def: "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." [Orphanet:1876] +subset: gard_rare {source="GARD:5496"} subset: ordo_disease {source="Orphanet:1876"} synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496] synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320] @@ -197172,6 +200595,7 @@ synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320] synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496] synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320] synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] +xref: GARD:5496 {source="Orphanet:1876"} xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"} xref: MESH:C536350 {source="Orphanet:1876", source="Orphanet:1876/e"} xref: OMIM:277320 {source="MONDO:equivalentTo", source="Orphanet:1876", source="Orphanet:1876/e"} @@ -197187,7 +200611,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010182 name: hypercarotenemia and vitamin A deficiency, autosomal recessive +subset: gard_rare {source="GARD:18302"} synonym: "hypercarotenemia and vitamin A deficiency, autosomal recessive" EXACT [OMIM:277350] +xref: GARD:18302 {source="OMIM:277350"} xref: MESH:C567486 {source="MONDO:equivalentTo"} xref: OMIM:277350 {source="MONDO:equivalentTo"} xref: Orphanet:199285 {source="OMIM:277350"} @@ -197200,6 +200626,7 @@ id: MONDO:0010183 name: methylmalonic aciduria and homocystinuria type cblF def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." [Orphanet:79284] comment: Editor note: TODO - relevant annotation from GO +subset: gard_rare {source="GARD:3584"} subset: ordo_clinical_subtype {source="Orphanet:79284"} synonym: "cblF defect" EXACT [Orphanet:79284] synonym: "cblF methylmalonic acidemia and homocystinuria" RELATED [] @@ -197221,6 +200648,7 @@ synonym: "methylmalonic aciduria with homocystinuria, type cblF" EXACT [Orphanet synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380] synonym: "vitamin B12 storage disease" RELATED [OMIM:277380] xref: DOID:0050717 {source="MONDO:equivalentTo"} +xref: GARD:3584 {source="Orphanet:79284"} xref: ICD10CM:E72.1 {source="Orphanet:79284", source="Orphanet:79284/attributed", source="Orphanet:79284/ntbt"} xref: MESH:C564747 {source="MONDO:equivalentTo"} xref: OMIM:277380 {source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717", source="Orphanet:79284/e"} @@ -197239,6 +200667,7 @@ property_value: confidence "1.9999999999999996" xsd:double id: MONDO:0010184 name: methylmalonic aciduria and homocystinuria type cblC def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." [Orphanet:79282] +subset: gard_rare {source="GARD:12128"} subset: ordo_clinical_subtype {source="Orphanet:79282"} synonym: "cblC" RELATED [GARD:0012128] synonym: "cblC - cobalamin locus c" RELATED [] @@ -197262,6 +200691,7 @@ synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" REL synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet:79282] synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400] xref: DOID:0050715 {source="MONDO:equivalentTo"} +xref: GARD:12128 {source="Orphanet:79282"} xref: ICD10CM:E72.1 {source="Orphanet:79282", source="Orphanet:79282/attributed", source="Orphanet:79282/ntbt"} xref: NCIT:C142174 {source="MONDO:equivalentTo"} xref: OMIM:277400 {source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715", source="Orphanet:79282/e"} @@ -197280,6 +200710,7 @@ property_value: confidence "1.9999999999999996" xsd:double id: MONDO:0010185 name: methylmalonic aciduria and homocystinuria type cblD def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." [Orphanet:79283] +subset: gard_rare {source="GARD:3582"} subset: ordo_clinical_subtype {source="Orphanet:79283"} synonym: "cblD - cobalamin locus d" RELATED [] synonym: "cblD defect" EXACT [Orphanet:79283] @@ -197306,6 +200737,7 @@ synonym: "methylmalonic aciduria, cblD type, variant 2, included" RELATED [GARD: synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410] synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410] xref: DOID:0050716 {source="MONDO:equivalentTo"} +xref: GARD:3582 {source="Orphanet:79283"} xref: ICD10CM:E72.1 {source="Orphanet:79283", source="Orphanet:79283/attributed", source="Orphanet:79283/ntbt"} xref: MESH:C564743 {source="MONDO:equivalentTo"} xref: OMIM:277410 {source="MONDO:equivalentTo", source="Orphanet:79283", source="Orphanet:79283/e", source="DOID:0050716"} @@ -197333,6 +200765,7 @@ property_value: confidence "1.9999999999999996" xsd:double id: MONDO:0010186 name: vitamin D-dependent rickets, type 2A def: "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." [NCIT:C131075] +subset: gard_rare {source="GARD:18169"} synonym: "generalised resistance to 1,25-dihydroxyvitamin D" RELATED OMO:0003005 [] synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [OMIM:277440] synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" EXACT [NCIT:C131075] @@ -197352,6 +200785,7 @@ synonym: "vitamin D-dependent rickets, type 2A" EXACT [MONDO:Lexical, OMIM:27744 synonym: "vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [OMIM:277440] synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" RELATED [OMIM:277440] xref: DOID:0080884 {source="MONDO:equivalentTo"} +xref: GARD:18169 {source="OMIM:277440"} xref: MESH:C562794 {source="MONDO:equivalentTo"} xref: NCIT:C131075 {source="MONDO:equivalentTo"} xref: OMIM:277440 {source="MONDO:equivalentTo"} @@ -197375,6 +200809,7 @@ id: MONDO:0010187 name: vitamin K-dependent clotting factors, combined deficiency of, type 1 def: "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." [Orphanet:98434] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:18195"} subset: ordo_disease {source="Orphanet:98434"} subset: prototype_pattern synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern] @@ -197392,6 +200827,7 @@ synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450] synonym: "Vkcfd" RELATED [OMIM:277450] synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277450] xref: DOID:0112173 {source="MONDO:equivalentTo"} +xref: GARD:18195 {source="OMIM:277450"} xref: ICD10CM:D68.2 {source="Orphanet:98434/attributed", source="Orphanet:98434/ntbt", source="Orphanet:98434"} xref: MESH:C564741 {source="MONDO:equivalentTo"} xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="Orphanet:98434/e"} @@ -197409,6 +200845,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010188 name: familial isolated deficiency of vitamin E def: "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." [Orphanet:96] +subset: gard_rare {source="GARD:8595"} subset: ordo_disease {source="Orphanet:96"} synonym: "ataxia with isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96] synonym: "ataxia with vitamin E deficiency" RELATED [Orphanet:96] @@ -197422,6 +200859,7 @@ synonym: "isolated vitamin E deficiency" EXACT [Orphanet:96] synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277460] synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460] xref: DOID:0090028 {source="MONDO:equivalentTo"} +xref: GARD:8595 {source="Orphanet:96"} xref: ICD10CM:G11.1 {source="Orphanet:96/attributed", source="Orphanet:96/ntbt", source="DOID:0090028", source="Orphanet:96"} xref: ICD9:269.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -197450,7 +200888,7 @@ is_a: MONDO:0003847 {source="MESH:C564739/inferred"} ! hereditary disease [Term] id: MONDO:0010190 name: pontocerebellar hypoplasia type 2A -subset: gard_rare +subset: gard_rare {source="GARD:15244"} synonym: "microcephaly pontocerebellar hypoplasia dyskinesia" RELATED [GARD:0003631] synonym: "Pch2" RELATED [OMIM:277470] synonym: "PCH2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277470] @@ -197460,6 +200898,7 @@ synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical, OMIM:2774 synonym: "TSEN54 pontocerebellar hypoplasia type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Volendam neurodegenerative disease" RELATED [OMIM:277470] xref: DOID:0060267 {source="MONDO:equivalentTo"} +xref: GARD:15244 {source="OMIM:277470"} xref: MESH:C564738 {source="DOID:0060267", source="MONDO:equivalentTo"} xref: OMIM:277470 {source="GARD:0003631", source="DOID:0060267", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="OMIM:277470", source="DOID:0060267"} @@ -197476,6 +200915,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3631/microce id: MONDO:0010191 name: von Willebrand disease 3 def: "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." [Orphanet:166096] +subset: gard_rare {source="GARD:17025"} subset: ordo_clinical_subtype {source="Orphanet:166096"} synonym: "von Willebrand disease 3" EXACT CLINGEN_PREFERRED [] synonym: "von Willebrand disease type 3" EXACT [DOID:0111054] @@ -197488,6 +200928,7 @@ synonym: "VWD type 3" EXACT [DOID:0111054] synonym: "VWD, type 3" RELATED [OMIM:277480] synonym: "VWD3" EXACT ABBREVIATION [DOID:0111054, MONDO:Lexical, OMIM:277480] xref: DOID:0111054 {source="MONDO:equivalentTo"} +xref: GARD:17025 {source="Orphanet:166096"} xref: ICD10CM:D68.0 {source="Orphanet:166096/attributed", source="Orphanet:166096/ntbt", source="DOID:0111054", source="Orphanet:166096"} xref: MESH:D056729 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"} xref: NCIT:C85213 {source="MONDO:equivalentTo"} @@ -197506,6 +200947,7 @@ property_value: confidence "3.801097393689986" xsd:double id: MONDO:0010192 name: Waardenburg syndrome type 4A def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +subset: gard_rare {source="GARD:15245"} synonym: "EDNRB Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Shah-Waardenburg syndrome" RELATED [OMIM:277580] synonym: "Waardenburg syndrome caused by mutation in EDNRB" EXACT [MONDO:design_pattern] @@ -197518,6 +200960,7 @@ synonym: "Waardenburg-Shah syndrome" RELATED [https://rarediseases.info.nih.gov/ synonym: "Ws4" RELATED [OMIM:277580] synonym: "WS4A" EXACT ABBREVIATION [DOID:0110953, MONDO:Lexical, OMIM:277580] xref: DOID:0110953 {source="MONDO:equivalentTo"} +xref: GARD:15245 {source="OMIM:277580"} xref: OMIM:277580 {source="DOID:0110953", source="MONDO:equivalentTo"} xref: Orphanet:897 {source="OMIM:277580"} xref: UMLS:C1848519 {source="OMIM:277580", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -197533,6 +200976,7 @@ property_value: confidence "37.33333333333334" xsd:double id: MONDO:0010193 name: Weaver syndrome def: "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." [Orphanet:3447] +subset: gard_rare {source="GARD:7878"} subset: ordo_malformation_syndrome {source="Orphanet:3447"} synonym: "camptodactyly - overgrowth - unusual facies" RELATED [GARD:0007878] synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [Orphanet:3447] @@ -197551,6 +200995,7 @@ synonym: "Weaver-Smith syndrome" RELATED [OMIM:277590] synonym: "Weaver-Williams syndrome" RELATED EXCLUDE [DOID:14731] synonym: "WVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277590] xref: DOID:14731 {source="MONDO:equivalentTo"} +xref: GARD:7878 {source="Orphanet:3447"} xref: GTR:AN0102079 xref: GTR:AN0102080 xref: ICD10CM:Q87.3 {source="Orphanet:3447/inclusion", source="Orphanet:3447", source="Orphanet:3447/ntbt"} @@ -197582,6 +201027,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010194 name: Weill-Marchesani syndrome 1 def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15246"} synonym: "ADAMTS10 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:277600] synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:277600] @@ -197591,6 +201037,7 @@ synonym: "Weill-Marchesani syndrome caused by mutation in ADAMTS10" EXACT [MONDO synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1, OMIM:277600] synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [OMIM:277600] synonym: "WMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277600] +xref: GARD:15246 {source="OMIM:277600"} xref: OMIM:277600 {source="MONDO:equivalentTo"} xref: Orphanet:3449 {source="OMIM:277600"} xref: UMLS:C1869114 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:277600"} @@ -197615,6 +201062,7 @@ replaced_by: MONDO:0008490 id: MONDO:0010196 name: Werner syndrome def: "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." [Orphanet:902] +subset: gard_rare {source="GARD:7885"} subset: ordo_disease {source="Orphanet:902"} synonym: "adult premature ageing syndrome" EXACT OMO:0003005 [] synonym: "adult premature aging syndrome" EXACT [DOID:5688] @@ -197624,6 +201072,7 @@ synonym: "Werner's syndrome" EXACT [DOID:5688] synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277700] synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902] xref: DOID:5688 {source="MONDO:equivalentTo"} +xref: GARD:7885 {source="Orphanet:902"} xref: ICD10CM:E34.8 {source="Orphanet:902", source="Orphanet:902/index", source="Orphanet:902/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049429 {source="Orphanet:902", source="Orphanet:902/e"} @@ -197650,9 +201099,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010197 name: whistling face syndrome, recessive form -subset: gard_rare {source="GARD:0010024"} +subset: gard_rare {source="GARD:10024"} synonym: "whistling face syndrome, recessive form" EXACT [OMIM:277720] xref: DOID:0111606 {source="MONDO:equivalentTo"} +xref: GARD:10024 {source="OMIM:277720"} xref: MESH:C536699 {source="MONDO:equivalentTo"} xref: OMIM:277720 {source="MONDO:equivalentTo"} xref: Orphanet:2053 {source="OMIM:277720"} @@ -197666,7 +201116,6 @@ id: MONDO:0010198 name: Wernicke-Korsakoff syndrome def: "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." [https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome] comment: Editor note: todo check -subset: gard_rare {source="GARD:0006843"} synonym: "alcohol-induced encephalopathy" RELATED [OMIM:277730] synonym: "Korsakoff syndrome" EXACT [DOID:10915] synonym: "Korsakoff's psychosis" EXACT [DOID:10915] @@ -197700,9 +201149,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6843/wernick id: MONDO:0010199 name: white forelock with malformations def: "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." [Orphanet:2475] -subset: gard_rare {source="GARD:0010081"} +subset: gard_rare {source="GARD:10081"} subset: ordo_malformation_syndrome {source="Orphanet:2475"} synonym: "white forelock with malformations" EXACT [OMIM:277740] +xref: GARD:10081 {source="Orphanet:2475"} xref: ICD10CM:Q87.8 {source="Orphanet:2475/attributed", source="Orphanet:2475/ntbt", source="Orphanet:2475"} xref: MESH:C536700 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} xref: OMIM:277740 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} @@ -197721,7 +201171,7 @@ id: MONDO:0010200 name: Wilson disease def: "A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." [https://orcid.org/0000-0001-5208-3432, Orphanet:905] subset: clingen -subset: gard_rare {source="GARD:0007893"} +subset: gard_rare {source="GARD:7893"} subset: ordo_disease {source="Orphanet:905"} synonym: "cerebral pseudosclerosis" EXACT [DOID:893] synonym: "hepatolenticular Degeneration" RELATED [OMIM:277900] @@ -197733,6 +201183,7 @@ synonym: "Wilson disease" EXACT CLINGEN_PREFERRED [OMIM:277900] synonym: "Wilson's disease" EXACT [DOID:893] synonym: "Wnd" RELATED [OMIM:277900] xref: DOID:893 {source="MONDO:equivalentTo"} +xref: GARD:7893 {source="Orphanet:905"} xref: ICD10CM:E83.0 {source="Orphanet:905/inclusion", source="Orphanet:905/ntbt", source="Orphanet:905"} xref: ICD10CM:E83.01 {source="DOID:893"} xref: MedDRA:10019819 {source="Orphanet:905/e", source="Orphanet:905"} @@ -197766,6 +201217,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7893/wilson- id: MONDO:0010201 name: Winchester syndrome comment: Editor note: check relationship to parent +subset: gard_rare {source="GARD:7894"} synonym: "Al-Qeel Sewairi syndrome" RELATED [GARD:0007894] synonym: "multicentric osteolysis, nodulosis and arthropathy" RELATED [GARD:0007894] synonym: "NOA syndrome" RELATED [GARD:0007894] @@ -197775,6 +201227,7 @@ synonym: "Winchester syndrome" EXACT [MONDO:Lexical, OMIM:277950] synonym: "Winchester-Grossman syndrome" EXACT [GARD:0007894] synonym: "WNCHRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277950] xref: DOID:0080696 {source="MONDO:equivalentTo"} +xref: GARD:7894 {source="OMIM:277950"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536709 {source="MONDO:equivalentTo"} xref: NCIT:C170731 {source="MONDO:equivalentTo"} @@ -197802,10 +201255,12 @@ replaced_by: MONDO:0010518 id: MONDO:0010203 name: intellectual disability, Wolff type def: "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." [Orphanet:3080] +subset: gard_rare {source="GARD:3530"} subset: ordo_malformation_syndrome {source="Orphanet:3080"} synonym: "WOLFF intellectual disability syndrome" RELATED [OMIM:277990] synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [OMIM:277990] synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080] +xref: GARD:3530 {source="Orphanet:3080"} xref: ICD10CM:Q87.0 {source="Orphanet:3080", source="Orphanet:3080/attributed", source="Orphanet:3080/ntbt"} xref: MESH:C537448 {source="MONDO:equivalentTo"} xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="Orphanet:3080/e"} @@ -197820,6 +201275,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010204 name: obsolete lysosomal acid lipase deficiency +xref: GARD:12097 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI is_obsolete: true @@ -197837,6 +201293,7 @@ replaced_by: MONDO:0019148 id: MONDO:0010206 name: hypotrichosis 8 def: "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15247"} synonym: "hypotrichosis 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:278150] synonym: "hypotrichosis caused by mutation in LPAR6" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 8" EXACT [DOID:0110705, MONDORULE:1, OMIM:278150] @@ -197847,6 +201304,7 @@ synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disea synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED OMO:0003005 [] synonym: "wooly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150] xref: DOID:0110705 {source="MONDO:equivalentTo"} +xref: GARD:15247 {source="OMIM:278150"} xref: MESH:C566950 {source="MONDO:equivalentTo"} xref: OMIM:278150 {source="DOID:0110705", source="MONDO:equivalentTo"} xref: Orphanet:170 {source="OMIM:278150"} @@ -197882,11 +201340,13 @@ is_a: MONDO:0002254 {source="Orphanet:1409"} ! syndromic disease id: MONDO:0010208 name: wrinkly skin syndrome def: "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2834] +subset: gard_rare {source="GARD:273"} subset: ordo_clinical_subtype {source="Orphanet:2834"} synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834] synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250] synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834] xref: DOID:0112171 {source="MONDO:equivalentTo"} +xref: GARD:273 {source="Orphanet:2834"} xref: ICD10CM:Q82.8 {source="Orphanet:2834", source="Orphanet:2834/attributed", source="Orphanet:2834/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} @@ -197905,6 +201365,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010209 name: xanthinuria type I def: "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." [Orphanet:93601] +subset: gard_rare {source="GARD:5621"} subset: ordo_etiological_subtype {source="Orphanet:93601"} synonym: "hereditary xanthinuria, type I" RELATED [] synonym: "isolated xanthine oxidase deficiency" EXACT [] @@ -197920,6 +201381,7 @@ synonym: "xanthinuria, type I" EXACT [OMIM:278300] synonym: "XDH deficiency" BROAD [MESH:C562584, OMIM:278300, Orphanet:93601] synonym: "XO deficiency" BROAD [Orphanet:93601] synonym: "XOR deficiency" BROAD [Orphanet:93601] +xref: GARD:5621 {source="Orphanet:93601"} xref: ICD10CM:E79.8 {source="Orphanet:93601", source="Orphanet:93601/attributed", source="Orphanet:93601/ntbt"} xref: MESH:C562584 {source="MONDO:equivalentTo"} xref: OMIM:278300 {source="MONDO:equivalentTo", source="Orphanet:93601", source="Orphanet:93601/e"} @@ -197936,7 +201398,7 @@ property_value: confidence "19.999999999999982" xsd:double id: MONDO:0010210 name: xeroderma pigmentosum group A def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:5624"} synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843, OMIM:278700] synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843] @@ -197953,6 +201415,7 @@ synonym: "XP1" EXACT ABBREVIATION [DOID:0110843] synonym: "XPA" EXACT ABBREVIATION [DOID:0110843, MONDO:Lexical, OMIM:278700] synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110843 {source="MONDO:equivalentTo"} +xref: GARD:5624 {source="OMIM:278700"} xref: ICD10CM:Q82.1 {source="DOID:0110843"} xref: NCIT:C3965 {source="MONDO:equivalentTo"} xref: OMIM:278700 {source="DOID:0110843", source="MONDO:equivalentTo"} @@ -197971,7 +201434,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010211 name: xeroderma pigmentosum group C def: "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." [NCIT:C114770] -subset: gard_rare +subset: gard_rare {source="GARD:5626"} synonym: "xeroderma pigmentosum 3" RELATED [OMIM:278720] synonym: "xeroderma pigmentosum group C" EXACT CLINGEN_PREFERRED [] synonym: "xeroderma pigmentosum group type C" EXACT [DOID:0110844, MONDORULE:1] @@ -197987,6 +201450,7 @@ synonym: "XP3" EXACT ABBREVIATION [DOID:0110844] synonym: "XPC" EXACT ABBREVIATION [DOID:0110844, MONDO:Lexical, OMIM:278720] synonym: "XPCC" EXACT ABBREVIATION [DOID:0110844, OMIM:278720] xref: DOID:0110844 {source="MONDO:equivalentTo"} +xref: GARD:5626 {source="OMIM:278720"} xref: ICD10CM:Q82.1 {source="DOID:0110844"} xref: MESH:C567886 {source="MONDO:equivalentTo"} xref: NCIT:C114770 {source="MONDO:equivalentTo"} @@ -198003,6 +201467,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010212 name: xeroderma pigmentosum group D def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16452"} synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730] synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern] @@ -198027,6 +201492,7 @@ synonym: "XPD" EXACT ABBREVIATION [DOID:0110845, MONDO:Lexical, OMIM:278730] synonym: "XPDC" EXACT ABBREVIATION [DOID:0110845] synonym: "XPH" EXACT ABBREVIATION [DOID:0110845] xref: DOID:0110845 {source="MONDO:equivalentTo"} +xref: GARD:16452 {source="OMIM:278730"} xref: ICD10CM:Q82.1 {source="DOID:0110845"} xref: MESH:C562591 {source="MONDO:equivalentTo"} xref: NCIT:C3967 {source="MONDO:equivalentTo"} @@ -198052,7 +201518,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010213 name: xeroderma pigmentosum group E def: "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." [NCIT:C114771] -subset: gard_rare +subset: gard_rare {source="GARD:5627"} synonym: "xeroderma pigmentosum 5" RELATED [OMIM:278740] synonym: "xeroderma pigmentosum group E" EXACT CLINGEN_PREFERRED [] synonym: "xeroderma pigmentosum group type E" EXACT [DOID:0110846, MONDORULE:1] @@ -198068,6 +201534,7 @@ synonym: "XP5" EXACT ABBREVIATION [DOID:0110846] synonym: "XPE" EXACT ABBREVIATION [DOID:0110846] synonym: "XPe" RELATED [OMIM:278740] xref: DOID:0110846 {source="MONDO:equivalentTo"} +xref: GARD:5627 {source="OMIM:278740"} xref: ICD10CM:Q82.1 {source="DOID:0110846"} xref: MESH:C564732 {source="MONDO:equivalentTo"} xref: NCIT:C114771 {source="MONDO:equivalentTo"} @@ -198084,7 +201551,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010214 name: xeroderma pigmentosum variant type def: "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." [Orphanet:90342] -subset: gard_rare {source="GARD:0005630"} +subset: gard_rare {source="GARD:5630"} subset: ordo_disease {source="Orphanet:90342"} synonym: "photosensitivity with defective DNA synthesis" EXACT [DOID:0110847, OMIM:278750] synonym: "xeroderma pigmentosum variant" RELATED [Orphanet:90342] @@ -198093,6 +201560,7 @@ synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [DOID:011084 synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:278750] synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342] xref: DOID:0110847 {source="MONDO:equivalentTo"} +xref: GARD:5630 {source="Orphanet:90342"} xref: ICD10CM:Q82.1 {source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/attributed", source="Orphanet:90342/ntbt"} xref: MESH:C536766 {source="MONDO:equivalentTo", source="Orphanet:90342", source="Orphanet:90342/e"} xref: NCIT:C141367 {source="MONDO:equivalentTo"} @@ -198110,7 +201578,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5630/xeroder id: MONDO:0010215 name: xeroderma pigmentosum group F def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:5628"} synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760] synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern] @@ -198128,6 +201596,7 @@ synonym: "XP-F" EXACT [NCIT:C3968] synonym: "XP6" EXACT ABBREVIATION [DOID:0110848] synonym: "XPF" EXACT ABBREVIATION [DOID:0110848, MONDO:Lexical, OMIM:278760] xref: DOID:0110848 {source="MONDO:equivalentTo"} +xref: GARD:5628 {source="OMIM:278760"} xref: ICD10CM:Q82.1 {source="DOID:0110848"} xref: MESH:C562592 {source="MONDO:equivalentTo"} xref: NCIT:C3968 {source="MONDO:equivalentTo"} @@ -198151,6 +201620,7 @@ id: MONDO:0010216 name: xeroderma pigmentosum group G def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." [MONDO:patterns/disease_series_by_gene] comment: placement based on OMIM phenotypic series 214150. {source="OMIM:278780"} +subset: gard_rare {source="GARD:5629"} synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780] synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern] @@ -198170,6 +201640,7 @@ synonym: "XP-G" EXACT [NCIT:C3969] synonym: "XP7" EXACT ABBREVIATION [DOID:0110849] synonym: "XPG" EXACT ABBREVIATION [DOID:0110849, MONDO:Lexical, OMIM:278780] xref: DOID:0110849 {source="MONDO:equivalentTo"} +xref: GARD:5629 {source="OMIM:278780"} xref: ICD10CM:Q82.1 {source="DOID:0110849"} xref: MESH:C562593 {source="MONDO:equivalentTo"} xref: NCIT:C3969 {source="MONDO:equivalentTo"} @@ -198197,7 +201668,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010217 name: de Sanctis-Cacchione syndrome def: "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." [NCIT:C84666] -subset: gard_rare {source="GARD:0008276"} synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800] synonym: "xerodermic idiocy" RELATED [GARD:0008276] xref: DOID:0112158 {source="MONDO:equivalentTo"} @@ -198217,6 +201687,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8276/de-sanc [Term] id: MONDO:0010218 name: 46,XX sex reversal 2 +subset: gard_rare {source="GARD:15249"} synonym: "46,XX SEX reversal 2" RELATED [OMIM:278850] synonym: "46,XX sex reversal 2" EXACT [MONDO:Lexical, OMIM:278850] synonym: "46,XX Sex reversal type 2" EXACT [MONDORULE:1, OMIM:278850] @@ -198224,6 +201695,7 @@ synonym: "46XX sex reversal 2" EXACT [OMIM:278850, OMIM:genemap2] synonym: "chromosome 17Q24 Duplication syndrome" RELATED [OMIM:278850] synonym: "SRXX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:278850] xref: DOID:0111763 {source="MONDO:equivalentTo"} +xref: GARD:15249 {source="OMIM:278850"} xref: OMIM:278850 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:278850"} xref: UMLS:C2749215 {source="MONDO:equivalentTo", source="OMIM:278850", source="MONDO:ncbi_mim2gene_medline"} @@ -198244,7 +201716,7 @@ is_a: MONDO:0003847 {source="MESH:C564730/inferred"} ! hereditary disease id: MONDO:0010220 name: Young syndrome def: "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections." [Orphanet:3471] -subset: gard_rare {source="GARD:0000341"} +subset: gard_rare {source="GARD:341"} subset: ordo_disease {source="Orphanet:3471"} synonym: "azoospermia obstructive and chronic sinopulmonary infections" RELATED [GARD:0000341] synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [OMIM:279000] @@ -198253,6 +201725,7 @@ synonym: "Barry Perkins Young syndrome" RELATED [GARD:0000341] synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000] synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000] synonym: "young syndrome" EXACT [OMIM:279000] +xref: GARD:341 {source="Orphanet:3471"} xref: ICD10CM:N46 {source="Orphanet:3471/attributed", source="Orphanet:3471/ntbt", source="Orphanet:3471"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063689 {source="Orphanet:3471/e", source="Orphanet:3471"} @@ -198270,6 +201743,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/341/young-sy id: MONDO:0010221 name: CHIME syndrome def: "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." [Orphanet:3474] +subset: gard_rare {source="GARD:310"} subset: ordo_malformation_syndrome {source="Orphanet:3474"} synonym: "CHIME" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000] synonym: "CHIME syndrome" EXACT [OMIM:280000] @@ -198284,6 +201758,7 @@ synonym: "PIGL-CDG" EXACT [Orphanet:3474] synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000] synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474] xref: DOID:0112152 {source="MONDO:equivalentTo"} +xref: GARD:310 {source="Orphanet:3474"} xref: ICD10CM:Q87.8 {source="Orphanet:3474", source="Orphanet:3474/attributed", source="Orphanet:3474/ntbt"} xref: MESH:C536729 {source="MONDO:equivalentTo"} xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="Orphanet:3474/e"} @@ -198346,7 +201821,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010223 name: ichthyosis, X-linked, without steroid sulfatase deficiency +subset: gard_rare {source="GARD:15250"} synonym: "ichthyosis, X-linked, without steroid sulfatase deficiency" EXACT [OMIM:300001] +xref: GARD:15250 {source="OMIM:300001"} xref: MESH:C564729 {source="MONDO:equivalentTo"} xref: OMIM:300001 {source="MONDO:equivalentTo"} xref: Orphanet:461 {source="OMIM:300001"} @@ -198360,6 +201837,7 @@ relationship: has_characteristic HP:0001417 {source="OMIM:300001"} ! X-linked in id: MONDO:0010224 name: corpus callosum agenesis-abnormal genitalia syndrome def: "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." [Orphanet:2508] +subset: gard_rare {source="GARD:4528"} subset: ordo_malformation_syndrome {source="Orphanet:2508"} synonym: "ACC with abnormal genitalia" RELATED [OMIM:300004] synonym: "ACC-abnormal genitalia syndrome" EXACT [Orphanet:2508] @@ -198370,6 +201848,7 @@ synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528] synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508] synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508] xref: DOID:0112151 {source="MONDO:equivalentTo"} +xref: GARD:4528 {source="Orphanet:2508"} xref: ICD10CM:Q87.8 {source="Orphanet:2508/attributed", source="Orphanet:2508/ntbt", source="Orphanet:2508"} xref: MESH:C563110 {source="MONDO:equivalentTo"} xref: OMIM:300004 {source="Orphanet:2508/e", source="MONDO:equivalentTo", source="Orphanet:2508"} @@ -198385,6 +201864,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010225 name: Dent disease type 1 def: "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." [Orphanet:93622] +subset: gard_rare {source="GARD:1804"} subset: ordo_clinical_subtype {source="Orphanet:93622"} synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DENT disease 1" RELATED [OMIM:300009] @@ -198396,6 +201876,7 @@ synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622] synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] xref: DOID:0111798 {source="MONDO:equivalentTo"} +xref: GARD:1804 {source="Orphanet:93622"} xref: ICD10CM:N25.8 {source="Orphanet:93622", source="Orphanet:93622/attributed", source="Orphanet:93622/ntbt"} xref: MESH:C538212 {source="Orphanet:93622", source="Orphanet:93622/e"} xref: OMIM:300009 {source="MONDO:equivalentTo", source="Orphanet:93622", source="Orphanet:93622/e"} @@ -198416,6 +201897,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010226 name: 46,XY sex reversal 2 +subset: gard_rare {source="GARD:9159"} synonym: "46,XY SEX reversal 2" RELATED [OMIM:300018] synonym: "46,XY sex reversal 2" EXACT [MONDO:Lexical, OMIM:300018] synonym: "46,XY Sex reversal type 2" EXACT [MONDORULE:1, OMIM:300018] @@ -198424,6 +201906,7 @@ synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [OMIM:300018, OMIM:genema synonym: "dosage-sensitive Sex reversal" RELATED [OMIM:300018] synonym: "SRXY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300018] xref: DOID:0111777 {source="MONDO:equivalentTo"} +xref: GARD:9159 {source="OMIM:300018"} xref: MESH:C535601 {source="MONDO:equivalentTo"} xref: OMIM:300018 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:300018"} @@ -198439,6 +201922,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010227 name: retinitis pigmentosa 3 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10381"} synonym: "Choroidoretinal Degeneration with retinal reflex in heterozygous Women" RELATED [OMIM:300029] synonym: "cone-rod Degeneration, X-linked" RELATED [OMIM:300029] synonym: "retinitis pigmentosa 15" RELATED [OMIM:300029] @@ -198448,6 +201932,7 @@ synonym: "retinitis pigmentosa type 3" EXACT [DOID:0110414, MONDORULE:1, OMIM:30 synonym: "RP3" EXACT ABBREVIATION [DOID:0110414, MONDO:Lexical, OMIM:300029] synonym: "RPGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110414 {source="MONDO:equivalentTo"} +xref: GARD:10381 {source="OMIM:300029"} xref: ICD10CM:H35.5 {source="DOID:0110414", source="MONDO:relatedTo"} xref: MESH:C564520 {source="MONDO:equivalentTo"} xref: OMIM:300029 {source="DOID:0110414", source="MONDO:equivalentTo"} @@ -198460,12 +201945,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010228 name: hearing loss, X-linked 3 -subset: gard_rare +subset: gard_rare {source="GARD:18095"} synonym: "deafness X-linked, DFN3" NARROW [GARD:0001707] synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical, OMIM:300030, OMIM:genemap2] synonym: "deafness, X-linked 4, congenital sensorineural" NARROW [OMIM:300030] synonym: "DFNX3" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300030] xref: DOID:0111736 {source="MONDO:equivalentTo"} +xref: GARD:18095 {source="OMIM:300030"} xref: MESH:C564727 {source="MONDO:equivalentTo"} xref: OMIM:300030 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300030"} @@ -198479,9 +201965,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010229 name: alopecia, congenital def: "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." [NCIT:C35790] +subset: gard_rare {source="GARD:1470"} synonym: "alopecia, congenital" EXACT [MONDO:Lexical, OMIM:300042] synonym: "ALPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300042] synonym: "congenital alopecia" EXACT [NCIT:C35790] +xref: GARD:1470 {source="OMIM:300042"} xref: MESH:C535981 {source="MONDO:equivalentTo"} xref: NCIT:C35790 {source="MONDO:equivalentTo"} xref: OMIM:300042 {source="MONDO:equivalentTo"} @@ -198496,10 +201984,12 @@ property_value: confidence "1.1064814814814814" xsd:double [Term] id: MONDO:0010230 name: intellectual disability, X-linked 23 +subset: gard_rare {source="GARD:22666"} synonym: "intellectual disability, X-linked 23" EXACT [MONDO:Lexical, OMIM:300046] synonym: "mental retardation, X-linked 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:300046] synonym: "MRX23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300046] xref: DOID:0112049 {source="MONDO:equivalentTo"} +xref: GARD:22666 {source="OMIM:300046"} xref: MESH:C563144 {source="MONDO:equivalentTo"} xref: OMIM:300046 {source="MONDO:equivalentTo"} xref: UMLS:C0796229 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300046"} @@ -198509,10 +201999,12 @@ property_value: confidence "2.6000000000000005" xsd:double [Term] id: MONDO:0010231 name: intellectual disability, X-linked 20 +subset: gard_rare {source="GARD:22667"} synonym: "intellectual disability, X-linked 20" EXACT [MONDO:Lexical, OMIM:300047] synonym: "mental retardation, X-linked 20" RELATED DEPRECATED [MONDO:Lexical, OMIM:300047] synonym: "MRX20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300047] xref: DOID:0112023 {source="MONDO:equivalentTo"} +xref: GARD:22667 {source="OMIM:300047"} xref: MESH:C563142 {source="MONDO:equivalentTo"} xref: OMIM:300047 {source="MONDO:equivalentTo"} xref: UMLS:C0796226 {source="MONDO:equivalentTo", source="OMIM:300047", source="MONDO:ncbi_mim2gene_medline"} @@ -198523,7 +202015,7 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010232 name: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked def: "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms." [https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked] -subset: gard_rare {source="GARD:0003017"} +subset: gard_rare {source="GARD:3017"} synonym: "CIIP" RELATED ABBREVIATION [GARD:0003017] synonym: "CIIP X-linked" RELATED [GARD:0003017] synonym: "Ciip, X-linked" RELATED [OMIM:300048] @@ -198537,6 +202029,7 @@ synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" synonym: "intestinal pseudoobstruction, neuronal, X-linked recessive" EXACT [OMIM:300048, OMIM:genemap2] synonym: "Ipox" RELATED [OMIM:300048] xref: DOID:0080681 {source="MONDO:equivalentTo"} +xref: GARD:3017 {source="OMIM:300048"} xref: MESH:C535532 {source="MONDO:equivalentTo"} xref: OMIM:300048 {source="MONDO:equivalentTo"} xref: Orphanet:2301 {source="OMIM:300048"} @@ -198555,6 +202048,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3017/intesti [Term] id: MONDO:0010233 name: heterotopia, periventricular, X-linked dominant +subset: gard_rare {source="GARD:7371"} synonym: "bilateral periventricular nodular heterotopia" RELATED [GARD:0007371] synonym: "BPNH" RELATED ABBREVIATION [GARD:0007371] synonym: "heterotopia familial nodular" RELATED [GARD:0007371] @@ -198572,6 +202066,7 @@ synonym: "periventricular nodular heterotopia 4" RELATED [OMIM:300049] synonym: "periventricular nodular heterotopia 4, formerly" RELATED [OMIM:300049] synonym: "PVNH1" RELATED ABBREVIATION [GARD:0007371, OMIM:300049] synonym: "X-linked periventricular heterotopia" RELATED [GARD:0007371] +xref: GARD:7371 {source="OMIM:300049"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300049 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:300049"} @@ -198595,7 +202090,7 @@ is_obsolete: true [Term] id: MONDO:0010235 name: X-linked intellectual disability-psychosis-macroorchidism syndrome -subset: gard_rare +subset: gard_rare {source="GARD:3506"} subset: ordo_malformation_syndrome {source="Orphanet:3077"} synonym: "intellectual deficit, X-linked - psychosis - macroorchidism" RELATED [GARD:0003506] synonym: "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" EXACT [OMIM:300055, OMIM:genemap2] @@ -198622,6 +202117,7 @@ synonym: "X-linked intellectual disability with spasticity" EXACT [DOID:0060827] synonym: "X-linked mental retardation 79" EXACT DEPRECATED [DOID:0060827] synonym: "X-linked mental retardation with spasticity" EXACT DEPRECATED [DOID:0060827] xref: DOID:0060827 {source="MONDO:equivalentTo"} +xref: GARD:3506 {source="Orphanet:3077"} xref: ICD10CM:F71.1 {source="Orphanet:3077/attributed", source="Orphanet:3077/ntbt", source="Orphanet:3077", source="DOID:0060827"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300055 {source="Orphanet:3077/e", source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827"} @@ -198643,12 +202139,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3506/ppm-x-s [Term] id: MONDO:0010236 name: intellectual disability, X-linked 14 +subset: gard_rare {source="GARD:8557"} synonym: "intellectual disability, X-linked 14" EXACT [MONDO:Lexical, OMIM:300062] synonym: "intellectual disability, X-linked nonspecific, type 14" RELATED [GARD:0008557] synonym: "mental retardation, X-linked 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:300062] synonym: "mental retardation, X-linked nonspecific, type 14" RELATED DEPRECATED [GARD:0008557] synonym: "MRX14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300062] xref: DOID:0112027 {source="MONDO:equivalentTo"} +xref: GARD:8557 {source="OMIM:300062"} xref: MESH:C537454 {source="MONDO:equivalentTo"} xref: OMIM:300062 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300062"} @@ -198660,7 +202158,7 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010237 name: X-linked intellectual disability-plagiocephaly syndrome def: "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." [Orphanet:2898] -subset: gard_rare +subset: gard_rare {source="GARD:2765"} subset: ordo_malformation_syndrome {source="Orphanet:2898"} synonym: "Hyde Forster McCarthy Berry syndrome" RELATED [GARD:0002765] synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898] @@ -198674,6 +202172,7 @@ synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED DEPRECATED [O synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED DEPRECATED [OMIM:300064] synonym: "plagiocephaly and X-linked intellectual disability" RELATED [GARD:0004377] synonym: "plagiocephaly and X-linked mental retardation" RELATED DEPRECATED [GARD:0004377] +xref: GARD:2765 {source="Orphanet:2898"} xref: ICD10CM:Q87.0 {source="Orphanet:2898", source="Orphanet:2898/attributed", source="Orphanet:2898/ntbt"} xref: MESH:C537512 {source="MONDO:equivalentTo"} xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"} @@ -198692,6 +202191,7 @@ id: MONDO:0010238 name: hearing loss, X-linked 4 def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:18096"} synonym: "deafness, nonsyndromic sensorineural progressive 6" NARROW [OMIM:300066] synonym: "deafness, X-linked 4" NARROW [MONDO:Lexical, OMIM:300066] synonym: "deafness, X-linked 4, X-linked dominant" NARROW [OMIM:300066, OMIM:genemap2] @@ -198701,6 +202201,7 @@ synonym: "DFNX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300066] synonym: "SMPX X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked nonsyndromic deafness caused by mutation in SMPX" NARROW [MONDO:design_pattern] xref: DOID:0111735 {source="MONDO:equivalentTo"} +xref: GARD:18096 {source="OMIM:300066"} xref: MESH:C564723 {source="MONDO:equivalentTo"} xref: OMIM:300066 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300066"} @@ -198717,7 +202218,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010239 name: lissencephaly type 1 due to doublecortin gene mutation def: "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients." [Orphanet:2148] -subset: gard_rare +subset: gard_rare {source="GARD:6914"} subset: ordo_disease {source="Orphanet:2148"} synonym: "Dc syndrome" RELATED [OMIM:300067] synonym: "Double cortex syndrome" RELATED [OMIM:300067] @@ -198738,6 +202239,7 @@ synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148] synonym: "XLIS" RELATED ABBREVIATION [GARD:0006914] synonym: "Xlis" RELATED [OMIM:300067] xref: DOID:0112239 {source="MONDO:equivalentTo"} +xref: GARD:6914 {source="Orphanet:2148"} xref: ICD10CM:Q04.3 {source="Orphanet:2148/attributed", source="Orphanet:2148/ntbt", source="Orphanet:2148"} xref: OMIM:300067 {source="Orphanet:2148", source="GARD:0006914", source="MONDO:equivalentTo", source="Orphanet:2148/e"} xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"} @@ -198767,6 +202269,7 @@ replaced_by: MONDO:0019154 id: MONDO:0010241 name: congenital stationary night blindness 2A def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15251"} synonym: "CACNA1F congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 2A X-linked" EXACT [DOID:0110871] synonym: "congenital stationary night blindness caused by mutation in CACNA1F" EXACT [MONDO:design_pattern] @@ -198777,6 +202280,7 @@ synonym: "night blindness, congenital stationary (incomplete), 2A, X-linked" EXA synonym: "night blindness, congenital stationary, type 2" RELATED [OMIM:300071] synonym: "night blindness, congenital stationary, type 2A" RELATED [MONDO:Lexical, OMIM:300071] xref: DOID:0110871 {source="MONDO:equivalentTo"} +xref: GARD:15251 {source="OMIM:300071"} xref: OMIM:300071 {source="MONDO:equivalentTo", source="DOID:0110871"} xref: UMLS:C1848172 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300071"} is_a: MONDO:0016293 {source="DC-OMIM:300071", source="DOID:0110871", source="MONDO:Entailed", source="OMIM:300071"} ! congenital stationary night blindness @@ -198791,7 +202295,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010242 name: fetal akinesia syndrome, X-linked -subset: gard_rare {source="GARD:0002293"} +subset: gard_rare {source="GARD:2293"} synonym: "fetal akinesia syndrome X-linked" RELATED [GARD:0002293] synonym: "fetal akinesia syndrome, X-linked" EXACT [OMIM:300073] synonym: "foetal akinesia syndrome X-linked" RELATED OMO:0003005 [] @@ -198799,6 +202303,7 @@ synonym: "polyhydramnios, hypokinesia, brain malformations, telecanthus, and nar synonym: "X-linked form of fetal akinesia syndrome" RELATED [GARD:0002293] synonym: "X-linked form of foetal akinesia syndrome" RELATED OMO:0003005 [] xref: DOID:0081043 {source="MONDO:equivalentTo"} +xref: GARD:2293 {source="OMIM:300073"} xref: MESH:C537921 {source="MONDO:equivalentTo"} xref: OMIM:300073 {source="MONDO:equivalentTo"} xref: Orphanet:994 {source="OMIM:300073"} @@ -198811,6 +202316,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2293/fetal-a id: MONDO:0010243 name: X-linked immunoneurologic disorder def: "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." [Orphanet:2571] +subset: gard_rare {source="GARD:274"} subset: ordo_disease {source="Orphanet:2571"} synonym: "immunoneurologic disorder, X-linked" EXACT [OMIM:300076] synonym: "neonatal death immune deficiency" EXACT [GARD:0000274] @@ -198818,6 +202324,7 @@ synonym: "Woods Black Norbury syndrome" EXACT [GARD:0000274] synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571] synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, OMIM:genemap2] synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274] +xref: GARD:274 {source="Orphanet:2571"} xref: ICD10CM:D82.8 {source="Orphanet:2571/attributed", source="Orphanet:2571/ntbt", source="Orphanet:2571"} xref: MESH:C536743 {source="MONDO:equivalentTo"} xref: OMIM:300076 {source="Orphanet:2571/e", source="MONDO:equivalentTo", source="Orphanet:2571"} @@ -198845,7 +202352,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010245 name: X-linked cone-rod dystrophy 2 -subset: gard_rare {source="GARD:0001462"} +subset: gard_rare {source="GARD:1462"} synonym: "COD2" EXACT ABBREVIATION [DOID:0111006, OMIM:300085] synonym: "cone dystrophy 2, X-linked" EXACT [OMIM:300085] synonym: "cone dystrophy X-linked 2" EXACT [GARD:0001462] @@ -198856,6 +202363,7 @@ synonym: "CORDX2" EXACT ABBREVIATION [DOID:0111006, MONDO:Lexical, OMIM:300085] synonym: "X-linked cone dystrophy 2" EXACT [DOID:0111006] synonym: "X-linked cone-rod dystrophy type 2" EXACT [DOID:0111006, MONDORULE:1] xref: DOID:0111006 {source="MONDO:equivalentTo"} +xref: GARD:1462 {source="OMIM:300085"} xref: MESH:C564717 {source="MONDO:equivalentTo"} xref: OMIM:300085 {source="DOID:0111006", source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="OMIM:300085", source="MONDO:relatedTo"} @@ -198869,6 +202377,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1462/cone-ro id: MONDO:0010246 name: developmental and epileptic encephalopathy, 9 def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039] +subset: gard_rare {source="GARD:10806"} subset: ordo_disease {source="Orphanet:101039"} synonym: "DEE9" EXACT ABBREVIATION [OMIM:300088] synonym: "developmental and epileptic encephalopathy 9" EXACT [OMIM:300088, OMIM:genemap2] @@ -198899,6 +202408,7 @@ synonym: "PCDH19-related female-limited epilepsy" RELATED [GARD:0010806] synonym: "PCDH19-related FLE" RELATED [GARD:0010806] synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:0010806] xref: DOID:0060848 {source="MONDO:equivalentTo"} +xref: GARD:10806 {source="Orphanet:101039"} xref: MESH:C564715 {source="MONDO:equivalentTo"} xref: OMIM:300088 {source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848", source="Orphanet:101039/e"} xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"} @@ -198915,7 +202425,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010247 name: X-linked cerebral adrenoleukodystrophy def: "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." [Orphanet:139396] -subset: gard_rare +subset: gard_rare {source="GARD:9412"} subset: ordo_clinical_subtype {source="Orphanet:139396"} synonym: "Addison disease and cerebral sclerosis" RELATED [OMIM:300100] synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical, OMIM:300100] @@ -198930,6 +202440,7 @@ synonym: "childhood-onset cerebral X-linked adrenoleukodystrophy" RELATED [GARD: synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100] synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100] synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_PREFERRED [Orphanet:139396] +xref: GARD:9412 {source="Orphanet:139396"} xref: ICD10CM:E71.3 {source="Orphanet:139396", source="Orphanet:139396/attributed", source="Orphanet:139396/ntbt"} xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"} xref: Orphanet:139399 {source="OMIM:300100"} @@ -198947,7 +202458,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9412/childho id: MONDO:0010248 name: X-linked spondyloepimetaphyseal dysplasia def: "X-linked form of spondyloepimetaphyseal dysplasia." [MONDO:patterns/x_linked] -subset: gard_rare {source="GARD:0004979"} +subset: gard_rare {source="GARD:4979"} subset: ordo_disease {source="Orphanet:93349"} synonym: "SEMD X-linked" RELATED [GARD:0004979] synonym: "SEMD, X-linked" RELATED [OMIM:300106] @@ -198957,6 +202468,7 @@ synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106] synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [OMIM:300106, OMIM:genemap2] xref: DOID:0112150 {source="MONDO:equivalentTo"} +xref: GARD:4979 {source="Orphanet:93349"} xref: ICD10CM:Q77.7 {source="Orphanet:93349/attributed", source="Orphanet:93349/ntbt", source="Orphanet:93349"} xref: MESH:C564714 {source="MONDO:equivalentTo"} xref: OMIM:300106 {source="Orphanet:93349/e", source="MONDO:equivalentTo", source="Orphanet:93349"} @@ -198977,6 +202489,7 @@ is_obsolete: true [Term] id: MONDO:0010250 name: intellectual disability, X-linked 49 +subset: gard_rare {source="GARD:17880"} subset: ordo_malformation_syndrome synonym: "CLCN4-related X-linked intellectual disability syndrome" EXACT [MONDO:0044618] synonym: "intellectual disability, X-linked 15" EXACT [OMIM:300114] @@ -198986,6 +202499,7 @@ synonym: "mental retardation, X-linked 49" RELATED DEPRECATED [MONDO:Lexical, OM synonym: "MRX49" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300114] synonym: "Raynaud-Claes syndrome, X-linked dominant" EXACT [OMIM:300114, OMIM:genemap2] xref: DOID:0112060 {source="MONDO:equivalentTo"} +xref: GARD:17880 {source="Orphanet:485350"} xref: OMIM:300114 {source="MONDO:equivalentTo"} xref: Orphanet:485350 {source="MONDO:equivalentTo"} xref: UMLS:C1417292 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300114"} @@ -198999,11 +202513,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010251 name: intellectual disability, X-linked 50 +subset: gard_rare {source="GARD:22668"} synonym: "intellectual developmental disorder, X-linked 50" EXACT [OMIM:300115, OMIM:genemap2] synonym: "intellectual disability, X-linked 50" EXACT [MONDO:Lexical, OMIM:300115] synonym: "mental retardation, X-linked 50" RELATED DEPRECATED [MONDO:Lexical, OMIM:300115] synonym: "MRX50" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300115] xref: DOID:0112029 {source="MONDO:equivalentTo"} +xref: GARD:22668 {source="OMIM:300115"} xref: MESH:C564713 {source="MONDO:equivalentTo"} xref: OMIM:300115 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300115"} @@ -199076,6 +202592,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010256 name: intellectual disability, X-linked 21 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22669"} synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 21, X-linked recessive" EXACT [OMIM:300143, OMIM:genemap2] synonym: "intellectual disability, X-linked 21" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300143] @@ -199087,6 +202604,7 @@ synonym: "mental retardation, X-linked type 21" EXACT DEPRECATED [MONDORULE:2, O synonym: "MRX21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143] synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern] xref: DOID:0112022 {source="MONDO:equivalentTo"} +xref: GARD:22669 {source="OMIM:300143"} xref: OMIM:300143 {source="MONDO:equivalentTo"} xref: UMLS:C0796227 {source="OMIM:300143", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0796241 {source="OMIM:300143", source="MONDO:notFoundInDiseaseSubset"} @@ -199100,9 +202618,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010257 name: prostate cancer, hereditary, X-linked 1 +subset: gard_rare {source="GARD:15253"} synonym: "HPCX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300147] synonym: "prostate cancer susceptibility, X-linked" RELATED [OMIM:300147] synonym: "prostate cancer, hereditary, X-linked 1" EXACT [MONDO:Lexical, OMIM:300147] +xref: GARD:15253 {source="OMIM:300147"} xref: OMIM:300147 {source="MONDO:equivalentTo"} xref: UMLS:C1846279 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300147"} is_a: MONDO:0008315 {source="DC-OMIM:300147", source="MONDO:0010257/inferred", source="MONDO:Redundant"} ! prostate cancer @@ -199113,6 +202633,7 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0010258 name: MEHMO syndrome def: "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." [Orphanet:85282] +subset: gard_rare {source="GARD:9178"} subset: ordo_malformation_syndrome {source="Orphanet:85282"} synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [DOID:0060801, GARD:0009178, MONDO:Lexical, OMIM:300148] synonym: "intellectual disability, X-linked, syndromic 20" EXACT [OMIM:300148] @@ -199136,6 +202657,7 @@ synonym: "syndromic X-linked mental retardation 25" EXACT DEPRECATED [DOID:00608 synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [DOID:0060801, Orphanet:85282] synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178] xref: DOID:0060801 {source="MONDO:equivalentTo"} +xref: GARD:9178 {source="Orphanet:85282"} xref: ICD10CM:Q87.8 {source="Orphanet:85282", source="DOID:0060801", source="Orphanet:85282/attributed", source="Orphanet:85282/ntbt"} xref: MESH:C537451 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300148 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:85282", source="DOID:0060801"} @@ -199160,12 +202682,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010259 name: retinitis pigmentosa 24 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." [DOID:0110416, PMID:10690843] -subset: gard_rare {source="GARD:0010389"} +subset: gard_rare {source="GARD:10389"} synonym: "retinitis pigmentosa 24" EXACT [MONDO:Lexical, OMIM:300155] synonym: "retinitis pigmentosa type 24" EXACT [DOID:0110416, MONDORULE:2] synonym: "RP 24" RELATED [GARD:0010389] synonym: "RP24" EXACT ABBREVIATION [DOID:0110416, MONDO:Lexical, OMIM:300155] xref: DOID:0110416 {source="MONDO:equivalentTo"} +xref: GARD:10389 {source="OMIM:300155"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110416"} xref: OMIM:300155 {source="DOID:0110416", source="MONDO:equivalentTo"} xref: UMLS:C1419611 {source="OMIM:300155", source="MONDO:notFoundInDiseaseSubset"} @@ -199191,6 +202714,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010261 name: microphthalmia, syndromic 2 +subset: gard_rare {source="GARD:4628"} subset: ordo_malformation_syndrome {source="Orphanet:2712"} synonym: "ANOP2 (formerly)" RELATED [GARD:0004628, OMIM:300166] synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [Orphanet:2712] @@ -199206,6 +202730,7 @@ synonym: "oculofaciocardiodental syndrome" EXACT [OMIM:300166] synonym: "OFCD syndrome" EXACT [OMIM:300166, Orphanet:2712] synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628] xref: DOID:0111809 {source="MONDO:equivalentTo"} +xref: GARD:4628 {source="Orphanet:2712"} xref: ICD10CM:Q87.8 {source="Orphanet:2712", source="Orphanet:2712/attributed", source="Orphanet:2712/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537465 {source="Orphanet:2712", source="Orphanet:2712/e"} @@ -199241,6 +202766,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010263 name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome +subset: gard_rare {source="GARD:16761"} subset: ordo_disease {source="Orphanet:86818"} synonym: "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis" RELATED [OMIM:300194] synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED DEPRECATED [OMIM:300194] @@ -199250,6 +202776,7 @@ synonym: "ATS-MR" EXACT [Orphanet:86818] synonym: "Ats-Mr" RELATED [OMIM:300194] synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194] xref: DOID:0111860 {source="MONDO:equivalentTo"} +xref: GARD:16761 {source="Orphanet:86818"} xref: ICD10CM:Q87.8 {source="Orphanet:86818/attributed", source="Orphanet:86818/ntbt", source="Orphanet:86818"} xref: MESH:C564570 {source="MONDO:equivalentTo"} xref: OMIM:300194 {source="Orphanet:86818/e", source="MONDO:equivalentTo", source="Orphanet:86818"} @@ -199268,6 +202795,7 @@ property_value: confidence "0.1428571428571428" xsd:double id: MONDO:0010264 name: X-linked adrenal hypoplasia congenita def: "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." [NCIT:C123725] +subset: gard_rare {source="GARD:555"} subset: ordo_disease {source="Orphanet:95702"} synonym: "Addison disease, X-linked" RELATED [OMIM:300200] synonym: "adrenal hypoplasia congenita" BROAD [NCIT:C123725] @@ -199287,6 +202815,7 @@ synonym: "X-linked adrenal hypoplasia congenita" EXACT CLINGEN_PREFERRED [] synonym: "X-linked AHC" RELATED [GARD:0000555] synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702] xref: DOID:0080156 {source="MONDO:equivalentTo"} +xref: GARD:555 {source="Orphanet:95702"} xref: ICD10CM:E27.1 {source="Orphanet:95702", source="Orphanet:95702/attributed", source="Orphanet:95702/ntbt"} xref: NCIT:C123725 {source="MONDO:equivalentTo"} xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="Orphanet:95702", source="Orphanet:95702/e"} @@ -199338,6 +202867,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010266 name: intellectual disability, X-linked 58 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22670"} synonym: "intellectual developmental disorder, X-linked 58, X-linked recessive" EXACT [OMIM:300210, OMIM:genemap2] synonym: "intellectual disability, X-linked 58" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300210] synonym: "intellectual disability, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210] @@ -199347,6 +202877,7 @@ synonym: "MRX58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210] synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern] synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112024 {source="MONDO:equivalentTo"} +xref: GARD:22670 {source="OMIM:300210"} xref: MESH:C564566 {source="MONDO:equivalentTo"} xref: OMIM:300210 {source="MONDO:equivalentTo"} xref: UMLS:C1846174 {source="OMIM:300210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -199371,7 +202902,7 @@ is_a: MONDO:0003847 {source="MESH:C564565/inferred"} ! hereditary disease id: MONDO:0010268 name: X-linked lissencephaly with abnormal genitalia def: "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia] -subset: gard_rare {source="GARD:0012491"} +subset: gard_rare {source="GARD:12491"} subset: ordo_malformation_syndrome {source="Orphanet:452"} synonym: "hydranencephaly and abnormal genitalia" RELATED [OMIM:300215] synonym: "hydranencephaly with abnormal genitalia" RELATED [GARD:0012491] @@ -199389,6 +202920,7 @@ synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT synonym: "XLAG syndrome" RELATED [GARD:0012491] synonym: "Xlisg" RELATED [OMIM:300215] xref: DOID:0112238 {source="MONDO:equivalentTo"} +xref: GARD:12491 {source="Orphanet:452"} xref: ICD10CM:Q04.3 {source="Orphanet:452/attributed", source="Orphanet:452/ntbt", source="Orphanet:452"} xref: MESH:C564563 {source="MONDO:equivalentTo"} xref: OMIM:300215 {source="Orphanet:452/e", source="MONDO:equivalentTo", source="Orphanet:452"} @@ -199409,7 +202941,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12491/x-link id: MONDO:0010269 name: Coats disease def: "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." [Orphanet:190] -subset: gard_rare {source="GARD:0006121"} +subset: gard_rare {source="GARD:6121"} subset: ordo_disease {source="Orphanet:190"} synonym: "Coats disease" EXACT [OMIM:300216] synonym: "Coats' disease" EXACT [DOID:7765] @@ -199419,6 +202951,7 @@ synonym: "exudative retinopathy" EXACT [DOID:7765, ICD9CM:362.12] synonym: "Leber miliary aneurysm" EXACT [Orphanet:190] synonym: "retinal telangiectasis" RELATED [OMIM:300216] xref: DOID:7765 {source="MONDO:equivalentTo"} +xref: GARD:6121 {source="Orphanet:190"} xref: ICD10CM:H35.0 {source="Orphanet:190/inclusion", source="Orphanet:190/ntbt", source="Orphanet:190"} xref: ICD10CM:H35.02 {source="DOID:7765"} xref: ICD10CM:H35.07 {source="DOID:7765"} @@ -199442,6 +202975,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6121/coats-d id: MONDO:0010270 name: syndromic X-linked intellectual disability 7 def: "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." [Orphanet:85274] +subset: gard_rare {source="GARD:9156"} subset: ordo_malformation_syndrome {source="Orphanet:85274"} synonym: "Ahmad X-linked intellectual disability syndrome" RELATED [OMIM:300218] synonym: "Ahmad X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300218] @@ -199457,6 +202991,7 @@ synonym: "MRXS7" EXACT ABBREVIATION [DOID:0060808, MONDO:Lexical, OMIM:300218, O synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808, MONDORULE:1, Orphanet:85274] synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274] xref: DOID:0060808 {source="MONDO:equivalentTo"} +xref: GARD:9156 {source="Orphanet:85274"} xref: ICD10CM:Q87.8 {source="DOID:0060808", source="Orphanet:85274/attributed", source="Orphanet:85274/ntbt", source="Orphanet:85274"} xref: MESH:C537449 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} xref: OMIM:300218 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} @@ -199473,9 +203008,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010271 name: X-linked myotubular myopathy-abnormal genitalia syndrome def: "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." [Orphanet:456328] +subset: gard_rare {source="GARD:17792"} subset: ordo_disease {source="Orphanet:456328"} synonym: "myotubular myopathy with abnormal genital development" RELATED [OMIM:300219] synonym: "Xq28 contiguous gene deletion syndrome" EXACT [Orphanet:456328] +xref: GARD:17792 {source="Orphanet:456328"} xref: MESH:C564561 {source="MONDO:equivalentTo"} xref: OMIM:300219 {source="MONDO:equivalentTo", source="Orphanet:456328", source="Orphanet:456328/e"} xref: Orphanet:456328 {source="MONDO:equivalentTo"} @@ -199532,6 +203069,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010275 name: spondyloepimetaphyseal dysplasia, Bieganski type def: "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive." [Orphanet:83629] +subset: gard_rare {source="GARD:4891"} subset: ordo_disease {source="Orphanet:168448", source="Orphanet:83629"} subset: ordo_disorder synonym: "H-SMD" EXACT [Orphanet:83629] @@ -199545,6 +203083,7 @@ synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232] synonym: "spondyloepimetaphyseal dysplasia X-linked with mental deterioration" RELATED [GARD:0004891] synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [OMIM:300232, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232] +xref: GARD:4891 {source="Orphanet:83629"} xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} xref: ICD10CM:Q77.7 {source="Orphanet:168448", source="Orphanet:168448/attributed", source="Orphanet:168448/ntbt"} xref: MESH:C536671 {source="MONDO:equivalentTo"} @@ -199573,6 +203112,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010277 name: syndromic X-linked intellectual disability Shashi type def: "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." [Orphanet:85286] +subset: gard_rare {source="GARD:4119"} subset: ordo_malformation_syndrome {source="Orphanet:85286"} synonym: "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" EXACT [OMIM:300238, OMIM:genemap2] synonym: "intellectual disability X-linked Shashi type" RELATED [GARD:0004119] @@ -199594,6 +203134,7 @@ synonym: "X-linked intellectual disability Shashi type" EXACT [DOID:0060826] synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286] synonym: "X-linked mental retardation Shashi type" EXACT DEPRECATED [DOID:0060826] xref: DOID:0060826 {source="MONDO:equivalentTo"} +xref: GARD:4119 {source="Orphanet:85286"} xref: ICD10CM:Q87.8 {source="Orphanet:85286/attributed", source="Orphanet:85286/ntbt", source="DOID:0060826", source="Orphanet:85286"} xref: MESH:C537135 {source="MONDO:equivalentTo"} xref: OMIM:300238 {source="Orphanet:85286/e", source="MONDO:equivalentTo", source="DOID:0060826", source="Orphanet:85286"} @@ -199612,7 +203153,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010278 name: Christianson syndrome def: "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." [Orphanet:85278] -subset: gard_rare {source="GARD:0010572"} +subset: gard_rare {source="GARD:10572"} subset: ordo_malformation_syndrome {source="Orphanet:85278"} synonym: "Angelman-like syndrome X-linked" RELATED [GARD:0010572] synonym: "Angelman-like syndrome, X-linked" RELATED [OMIM:300243] @@ -199633,6 +203174,7 @@ synonym: "X-linked intellectual disability - craniofacial dysmorphism - epilepsy synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825, Orphanet:85278] synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278] xref: DOID:0060825 {source="MONDO:equivalentTo"} +xref: GARD:10572 {source="Orphanet:85278"} xref: ICD10CM:Q87.8 {source="Orphanet:85278/attributed", source="Orphanet:85278/ntbt", source="Orphanet:85278", source="DOID:0060825"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537450 {source="Orphanet:85278", source="Orphanet:85278/e", source="DOID:0060825"} @@ -199655,6 +203197,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10572/christ id: MONDO:0010279 name: terminal osseous dysplasia-pigmentary defects syndrome def: "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." [Orphanet:88630] +subset: gard_rare {source="GARD:16769"} subset: ordo_malformation_syndrome {source="Orphanet:88630"} synonym: "Odpd" RELATED [OMIM:300244] synonym: "Odpf syndrome" RELATED [OMIM:300244] @@ -199664,6 +203207,7 @@ synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:30024 synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [OMIM:300244, OMIM:genemap2] synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300244] xref: DOID:0112149 {source="MONDO:equivalentTo"} +xref: GARD:16769 {source="Orphanet:88630"} xref: ICD10CM:Q87.2 {source="Orphanet:88630/attributed", source="Orphanet:88630/ntbt", source="Orphanet:88630"} xref: MESH:C564554 {source="MONDO:equivalentTo"} xref: OMIM:300244 {source="Orphanet:88630/e", source="MONDO:equivalentTo", source="Orphanet:88630"} @@ -199681,11 +203225,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010280 name: ptosis, hereditary congenital 2 +subset: gard_rare {source="GARD:18163"} synonym: "Ptos2" RELATED [OMIM:300245] synonym: "ptosis, hereditary congenital 2" EXACT [OMIM:300245] synonym: "ptosis, hereditary congenital 2, X-linked dominant" EXACT [OMIM:300245, OMIM:genemap2] synonym: "ptosis, hereditary congenital type 2" EXACT [MONDORULE:1, OMIM:300245] synonym: "ptosis, X-linked" RELATED [OMIM:300245] +xref: GARD:18163 {source="OMIM:300245"} xref: MESH:C564553 {source="MONDO:equivalentTo"} xref: OMIM:300245 {source="MONDO:equivalentTo"} xref: Orphanet:91411 {source="OMIM:300245"} @@ -199700,7 +203246,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010281 name: Danon disease def: "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:34587] -subset: gard_rare {source="GARD:0009730"} +subset: gard_rare {source="GARD:9730"} subset: ordo_disease {source="Orphanet:34587"} synonym: "ANTOPOL disease" EXACT [DOID:0050437] synonym: "Antopol disease" RELATED [OMIM:300257] @@ -199730,6 +203276,7 @@ synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [OMIM:300257] synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730] xref: DOID:0050437 {source="MONDO:equivalentTo"} xref: EFO:1001333 {source="MONDO:equivalentTo"} +xref: GARD:9730 {source="Orphanet:34587"} xref: ICD10CM:E74.0 {source="Orphanet:34587/attributed", source="Orphanet:34587/ntbt", source="Orphanet:34587"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437"} @@ -199767,6 +203314,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010283 name: syndromic X-linked intellectual disability Lubs type def: "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." [Orphanet:1762] +subset: gard_rare {source="GARD:9781", source="GARD:15254"} subset: ordo_malformation_syndrome {source="Orphanet:1762"} synonym: "distal duplication Xq" EXACT [Orphanet:1762] synonym: "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" EXACT [OMIM:300260, OMIM:genemap2] @@ -199791,6 +203339,8 @@ synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781] synonym: "Xq28 (MECP2) duplication" EXACT [DECIPHER:45] xref: DECIPHER:45 {source="MONDO:equivalentTo"} xref: DOID:0060799 {source="MONDO:equivalentTo"} +xref: GARD:15254 {source="OMIM:300260"} +xref: GARD:9781 {source="Orphanet:1762"} xref: ICD10CM:Q87.8 {source="DOID:0060799"} xref: ICD10CM:Q99.8 {source="Orphanet:1762/attributed", source="Orphanet:1762/ntbt", source="Orphanet:1762"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -199818,6 +203368,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010284 name: Armfield syndrome def: "X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." [Orphanet:85276] +subset: gard_rare {source="GARD:16742"} subset: ordo_malformation_syndrome {source="Orphanet:85276"} synonym: "Armfield syndrome" EXACT [Orphanet:85276] synonym: "Armfield X-linked intellectual disability syndrome" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261] @@ -199833,6 +203384,7 @@ synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [DOID: synonym: "syndromic X-linked mental retardation Armfield type" EXACT DEPRECATED [DOID:0050764] synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764] xref: DOID:0050764 {source="MONDO:equivalentTo"} +xref: GARD:16742 {source="Orphanet:85276"} xref: ICD10CM:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="Orphanet:85276/attributed", source="Orphanet:85276/ntbt"} xref: MESH:C564551 {source="MONDO:equivalentTo"} xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="Orphanet:85276/e"} @@ -199849,6 +203401,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010285 name: syndromic X-linked intellectual disability Abidi type def: "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." [Orphanet:85273] +subset: gard_rare {source="GARD:9157"} subset: ordo_malformation_syndrome {source="Orphanet:85273"} synonym: "ABIDI X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:300262] synonym: "ABIDI X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:300262] @@ -199863,6 +203416,7 @@ synonym: "syndromic X-linked intellectual disability Abidi type" EXACT [DOID:006 synonym: "syndromic X-linked mental retardation Abidi type" EXACT DEPRECATED [DOID:0060818] synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273] xref: DOID:0060818 {source="MONDO:equivalentTo"} +xref: GARD:9157 {source="Orphanet:85273"} xref: ICD10CM:Q87.8 {source="DOID:0060818", source="Orphanet:85273/attributed", source="Orphanet:85273/ntbt", source="Orphanet:85273"} xref: MESH:C535556 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} xref: OMIM:300262 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} @@ -199876,6 +203430,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010286 name: syndromic X-linked intellectual disability Siderius type +subset: gard_rare {source="GARD:9704"} subset: ordo_malformation_syndrome {source="Orphanet:85287"} synonym: "intellectual deficit X-linked Siderius type" RELATED [GARD:0009704] synonym: "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" EXACT [OMIM:300263, OMIM:genemap2] @@ -199895,6 +203450,7 @@ synonym: "X-linked intellectual disability Hamel type" RELATED [GARD:0009704] synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:85287] synonym: "X-linked mental retardation Hamel type" RELATED DEPRECATED [GARD:0009704] xref: DOID:0060812 {source="MONDO:equivalentTo"} +xref: GARD:9704 {source="Orphanet:85287"} xref: ICD10CM:Q87.8 {source="Orphanet:85287", source="Orphanet:85287/attributed", source="Orphanet:85287/ntbt", source="DOID:0060812"} xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} @@ -199911,6 +203467,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010287 name: hereditary spastic paraplegia 16 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." [DOID:0110769, PMID:9254866] +subset: gard_rare {source="GARD:9585"} subset: ordo_disease {source="Orphanet:100997"} synonym: "hereditary spastic paraplegia type 16" EXACT [DOID:0110769, MONDORULE:2] synonym: "spastic paraplegia 16" RELATED [GARD:0009585] @@ -199920,6 +203477,7 @@ synonym: "SPG16" EXACT ABBREVIATION [DOID:0110769, MONDO:Lexical, OMIM:300266, O synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769] synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769] xref: DOID:0110769 {source="MONDO:equivalentTo"} +xref: GARD:9585 {source="Orphanet:100997"} xref: ICD10CM:G11.4 {source="DOID:0110769", source="Orphanet:100997", source="Orphanet:100997/attributed", source="Orphanet:100997/ntbt"} xref: MESH:C536643 {source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} @@ -199933,8 +203491,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010288 name: adrenomyodystrophy def: "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." [Orphanet:977] +subset: gard_rare {source="GARD:562"} subset: ordo_disease {source="Orphanet:977"} synonym: "adrenomyodystrophy" EXACT [OMIM:300270] +xref: GARD:562 {source="Orphanet:977"} xref: MESH:C538051 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: OMIM:300270 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"} @@ -199948,6 +203508,7 @@ property_value: confidence "4.277777777777778" xsd:double [Term] id: MONDO:0010289 name: intellectual disability, X-linked 72 +subset: gard_rare {source="GARD:22671"} synonym: "intellectual developmental disorder, X-linked 72, X-linked recessive" EXACT [OMIM:300271, OMIM:genemap2] synonym: "intellectual disability, X-linked 72" EXACT [MONDO:Lexical, OMIM:300271] synonym: "intellectual disability, X-linked type 72" EXACT [MONDORULE:2, OMIM:300271] @@ -199955,6 +203516,7 @@ synonym: "mental retardation, X-linked 72" RELATED DEPRECATED [MONDO:Lexical, OM synonym: "mental retardation, X-linked type 72" EXACT DEPRECATED [MONDORULE:2, OMIM:300271] synonym: "MRX72" RELATED DEPRECATED [MONDO:Lexical, OMIM:300271] xref: DOID:0112059 {source="MONDO:equivalentTo"} +xref: GARD:22671 {source="OMIM:300271"} xref: MESH:C564547 {source="MONDO:equivalentTo"} xref: OMIM:300271 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300271"} @@ -200006,6 +203568,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010293 name: ectodermal dysplasia and immune deficiency +subset: gard_rare {source="GARD:9936"} subset: ordo_clinical_subtype {source="Orphanet:98813"} synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] @@ -200018,6 +203581,7 @@ synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT: synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] synonym: "Xhm-Ed" RELATED [OMIM:300291] xref: DOID:0081077 {source="MONDO:equivalentTo"} +xref: GARD:9936 {source="Orphanet:98813"} xref: ICD10CM:D82.8 {source="Orphanet:98813", source="Orphanet:98813/attributed", source="Orphanet:98813/ntbt"} xref: MESH:C536181 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C118844 {source="MONDO:equivalentTo"} @@ -200038,7 +203602,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010294 name: X-linked severe congenital neutropenia def: "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." [https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked] -subset: gard_rare {source="GARD:0003981"} +subset: gard_rare {source="GARD:3981"} subset: ordo_disease {source="Orphanet:86788"} synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300299] synonym: "neutropenia, severe congenital, X-linked, X-linked recessive" EXACT [OMIM:300299, OMIM:genemap2] @@ -200048,6 +203612,7 @@ synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linke synonym: "X-linked severe congenital neutropenia" EXACT CLINGEN_PREFERRED [] synonym: "Xln" RELATED [OMIM:300299] xref: DOID:0112128 {source="MONDO:equivalentTo"} +xref: GARD:3981 {source="Orphanet:86788"} xref: ICD10CM:D70 {source="Orphanet:86788/attributed", source="Orphanet:86788/ntbt", source="Orphanet:86788"} xref: MESH:C564539 {source="MONDO:equivalentTo"} xref: OMIM:300299 {source="Orphanet:86788", source="MONDO:equivalentTo", source="Orphanet:86788/e"} @@ -200067,10 +203632,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3981/severe- id: MONDO:0010295 name: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome def: "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." [Orphanet:69088] +subset: gard_rare {source="GARD:16681"} subset: ordo_disease {source="Orphanet:69088"} synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301] synonym: "ol-EDA-ID" EXACT [Orphanet:69088] synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300301] +xref: GARD:16681 {source="Orphanet:69088"} xref: ICD10CM:Q78.2 {source="Orphanet:69088", source="Orphanet:69088/attributed", source="Orphanet:69088/ntbt"} xref: MESH:C564538 {source="MONDO:equivalentTo"} xref: OMIM:300301 {source="MONDO:equivalentObsolete", source="Orphanet:69088", source="Orphanet:69088/e"} @@ -200089,12 +203656,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010296 name: immunodeficiency 61 +subset: gard_rare {source="GARD:10007"} synonym: "agammaglobulinemia X-linked type 2" RELATED [GARD:0010007] synonym: "agammaglobulinemia, X-linked, type 2" RELATED [MONDO:Lexical, OMIM:300310] synonym: "AGMX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300310] synonym: "immunodeficiency 61, X-linked recessive" EXACT [OMIM:300310, OMIM:genemap2] synonym: "XLA2" RELATED ABBREVIATION [OMIM:300310] xref: DOID:0111999 {source="MONDO:equivalentTo"} +xref: GARD:10007 {source="OMIM:300310"} xref: MESH:C538057 {source="MONDO:equivalentTo"} xref: OMIM:300310 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:300310"} @@ -200109,7 +203678,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010297 name: FG syndrome 2 def: "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009923"} synonym: "FG syndrome 2" EXACT [MONDO:Lexical, OMIM:300321] synonym: "FG syndrome caused by mutation in FLNA" EXACT [MONDO:design_pattern] synonym: "FG syndrome type 2" EXACT [MONDORULE:1, OMIM:300321] @@ -200128,6 +203696,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9923/fg-synd id: MONDO:0010298 name: Lesch-Nyhan syndrome def: "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." [Orphanet:510] +subset: gard_rare {source="GARD:7226"} subset: ordo_disease {source="Orphanet:510"} synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919] synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919] @@ -200157,6 +203726,7 @@ synonym: "LNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300322] synonym: "X-linked hyperuricemia" EXACT [DOID:1919] synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919] xref: DOID:1919 {source="MONDO:equivalentTo"} +xref: GARD:7226 {source="Orphanet:510"} xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057589 {source="Orphanet:510", source="Orphanet:510/e"} @@ -200187,6 +203757,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010299 name: hypoxanthine guanine phosphoribosyltransferase partial deficiency def: "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." [Orphanet:79233] +subset: gard_rare {source="GARD:16710"} subset: ordo_disease {source="Orphanet:79233"} synonym: "gout, HPRT-related" RELATED [OMIM:300323] synonym: "HPRT deficiency, grade I" EXACT [Orphanet:79233] @@ -200203,6 +203774,7 @@ synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EX synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323] synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233] xref: DOID:0112127 {source="MONDO:equivalentTo"} +xref: GARD:16710 {source="Orphanet:79233"} xref: ICD10CM:E79.8 {source="Orphanet:79233/attributed", source="Orphanet:79233/ntbt", source="Orphanet:79233"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562583 {source="MONDO:equivalentTo"} @@ -200218,11 +203790,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010300 name: intellectual disability, X-linked 53 +subset: gard_rare {source="GARD:22672"} synonym: "intellectual disability, X-linked 53" EXACT [MONDO:Lexical, OMIM:300324] synonym: "mental retardation, X-linked 53" RELATED DEPRECATED [MONDO:Lexical, OMIM:300324] synonym: "mental retardation, X-linked 53, X-linked recessive" EXACT [OMIM:300324, OMIM:genemap2] synonym: "MRX53" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300324] xref: DOID:0112047 {source="MONDO:equivalentTo"} +xref: GARD:22672 {source="OMIM:300324"} xref: MESH:C564533 {source="MONDO:equivalentTo"} xref: OMIM:300324 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300324"} @@ -200299,6 +203873,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010305 name: creatine transporter deficiency def: "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." [Orphanet:52503] +subset: gard_rare {source="GARD:1608"} subset: ordo_disease {source="Orphanet:52503"} synonym: "CCDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300352] synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, OMIM:300352] @@ -200321,6 +203896,7 @@ synonym: "X-linked creatine deficiency" RELATED [GARD:0001608] synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608] synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503] xref: DOID:0050800 {source="MONDO:equivalentTo"} +xref: GARD:1608 {source="Orphanet:52503"} xref: ICD10CM:E72.8 {source="Orphanet:52503", source="Orphanet:52503/attributed", source="Orphanet:52503/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535598 {source="MONDO:equivalentTo"} @@ -200340,6 +203916,7 @@ id: MONDO:0010306 name: X-linked intellectual disability, Cabezas type def: "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." [Orphanet:85293] comment: OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. {source="OMIM:300354"} +subset: gard_rare {source="GARD:13244"} subset: ordo_malformation_syndrome {source="Orphanet:85293"} synonym: "Cabezas syndrome" EXACT [Orphanet:85293] synonym: "Cabezas syndrome; syndromic X-linked intellectual disability 15" EXACT [DOID:0060822] @@ -200367,6 +203944,7 @@ synonym: "X-linked intellectual disability, Cabezas type" EXACT CLINGEN_PREFERRE synonym: "X-linked mental retardation with short stature" EXACT DEPRECATED [DOID:0060822] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT DEPRECATED [DOID:0060822] xref: DOID:0060822 {source="MONDO:equivalentTo"} +xref: GARD:13244 {source="Orphanet:85293"} xref: ICD10CM:Q87.8 {source="DOID:0060822", source="Orphanet:85293", source="Orphanet:85293/attributed", source="Orphanet:85293/ntbt"} xref: OMIM:300354 {source="Orphanet:85293/e", source="MONDO:equivalentTo", source="DOID:0060822", source="Orphanet:85293"} xref: Orphanet:85293 {source="MONDO:equivalentTo", source="OMIM:300354", source="DOID:0060822"} @@ -200383,11 +203961,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010307 name: intellectual disability, X-linked 73 +subset: gard_rare {source="GARD:22673"} synonym: "intellectual disability, X-linked 73" EXACT [MONDO:Lexical, OMIM:300355] synonym: "mental retardation, X-linked 73" RELATED DEPRECATED [MONDO:Lexical, OMIM:300355] synonym: "mental retardation, X-linked 73, X-linked recessive" EXACT [OMIM:300355, OMIM:genemap2] synonym: "MRX73" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300355] xref: DOID:0112017 {source="MONDO:equivalentTo"} +xref: GARD:22673 {source="OMIM:300355"} xref: MESH:C564528 {source="MONDO:equivalentTo"} xref: OMIM:300355 {source="MONDO:equivalentTo"} xref: UMLS:C1845860 {source="MONDO:equivalentTo", source="OMIM:300355", source="MONDO:ncbi_mim2gene_medline"} @@ -200417,10 +203997,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010309 name: intellectual disability, X-linked 42 +subset: gard_rare {source="GARD:22674"} synonym: "intellectual disability, X-linked 42" EXACT [MONDO:Lexical, OMIM:300372] synonym: "mental retardation, X-linked 42" RELATED DEPRECATED [MONDO:Lexical, OMIM:300372] synonym: "MRX42" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300372] xref: DOID:0112057 {source="MONDO:equivalentTo"} +xref: GARD:22674 {source="OMIM:300372"} xref: MESH:C564524 {source="MONDO:equivalentTo"} xref: OMIM:300372 {source="MONDO:equivalentTo"} xref: UMLS:C1845810 {source="OMIM:300372", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -200431,6 +204013,7 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010310 name: osteopathia striata with cranial sclerosis def: "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." [Orphanet:2780] +subset: gard_rare {source="GARD:4148"} subset: ordo_malformation_syndrome {source="Orphanet:2780"} synonym: "hyperostosis generalisata with striations" EXACT [DOID:0060886, OMIM:300373, Orphanet:2780] synonym: "OSCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300373] @@ -200442,6 +204025,7 @@ synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [Orphanet:2780 synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780] xref: DOID:0060886 {source="MONDO:equivalentTo"} xref: EFO:0005834 {source="MONDO:equivalentTo"} +xref: GARD:4148 {source="Orphanet:2780"} xref: ICD10CM:Q78.8 {source="DOID:0060886", source="Orphanet:2780/attributed", source="Orphanet:2780/ntbt", source="Orphanet:2780"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536053 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} @@ -200459,7 +204043,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010311 name: Becker muscular dystrophy def: "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98895] -subset: gard_rare {source="GARD:0005900"} +subset: gard_rare {source="GARD:5900"} subset: ordo_disease {source="Orphanet:98895"} synonym: "Becker dystrophinopathy" EXACT [Orphanet:98895] synonym: "Becker muscular dystrophy" EXACT [OMIM:300376] @@ -200472,6 +204056,7 @@ synonym: "muscular dystrophy pseudohypertrophic progressive, Becker type" RELATE synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, OMIM:300376] synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376] xref: DOID:9883 {source="MONDO:equivalentTo"} +xref: GARD:5900 {source="Orphanet:98895"} xref: ICD10CM:G71.0 {source="Orphanet:98895", source="Orphanet:98895/ntbt", source="Orphanet:98895/inclusion"} xref: MedDRA:10059117 {source="Orphanet:98895", source="Orphanet:98895/e"} xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"} @@ -200507,6 +204092,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010313 name: intellectual disability, X-linked 63 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:5613"} synonym: "ACSL4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ACSL4-related intellectual disability" RELATED [GARD:0005613] synonym: "intellectual developmental disorder, X-linked 63, X-linked dominant" EXACT [OMIM:300387, OMIM:genemap2] @@ -200519,6 +204105,7 @@ synonym: "mental retardation, X-linked type 63" EXACT DEPRECATED [MONDORULE:2, O synonym: "MRX63" RELATED DEPRECATED [MONDO:Lexical, OMIM:300387] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" EXACT [MONDO:design_pattern] xref: DOID:0112050 {source="MONDO:equivalentTo"} +xref: GARD:5613 {source="OMIM:300387"} xref: MESH:C564522 {source="MONDO:equivalentTo"} xref: OMIM:300387 {source="MONDO:equivalentTo"} xref: UMLS:C1845672 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300387"} @@ -200532,12 +204119,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010314 name: polymicrogyria, bilateral perisylvian, X-linked +subset: gard_rare {source="GARD:15256"} synonym: "BPP" RELATED ABBREVIATION [OMIM:300388] synonym: "BPPX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300388] synonym: "perisylvian syndrome, congenital bilateral" RELATED [OMIM:300388] synonym: "PMGX" RELATED ABBREVIATION [OMIM:300388] synonym: "polymicrogyria, bilateral perisylvian, X-linked" EXACT [MONDO:Lexical, OMIM:300388] synonym: "polymicrogyria, bilateral perisylvian, X-linked dominant" EXACT [OMIM:300388, OMIM:genemap2] +xref: GARD:15256 {source="OMIM:300388"} xref: OMIM:300388 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="OMIM:300388"} xref: Orphanet:98889 {source="OMIM:300388"} @@ -200551,6 +204140,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010315 name: T-B+ severe combined immunodeficiency due to gamma chain deficiency def: "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:276] +subset: gard_rare {source="GARD:5618"} subset: ordo_disease {source="Orphanet:276"} synonym: "immunodeficiency 4" RELATED [OMIM:300400] synonym: "SCID, X-linked" RELATED [OMIM:300400] @@ -200572,6 +204162,7 @@ synonym: "X-SCID" RELATED [GARD:0005618] synonym: "XSCID" EXACT ABBREVIATION [DOID:0060013] xref: DOID:0060013 {source="EFO:0005555", source="MONDO:equivalentTo"} xref: EFO:0005555 {source="MONDO:equivalentTo"} +xref: GARD:5618 {source="Orphanet:276"} xref: ICD10CM:D81.2 {source="Orphanet:276/attributed", source="Orphanet:276/ntbt", source="Orphanet:276"} xref: MESH:D053632 {source="DOID:0060013"} xref: NCIT:C4682 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"} @@ -200591,7 +204182,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010316 name: FG syndrome 3 -subset: gard_rare {source="GARD:0009924"} synonym: "FG syndrome 3" EXACT [MONDO:Lexical, OMIM:300406] synonym: "FGS3" RELATED ABBREVIATION [GARD:0009924, MONDO:Lexical, OMIM:300406] xref: OMIM:300406 {source="GARD:0009924", source="MONDO:equivalentTo"} @@ -200603,6 +204193,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9924/fg-synd [Term] id: MONDO:0010317 name: intellectual disability, X-linked, with or without seizures, arx-related +subset: gard_rare {source="GARD:5614"} synonym: "ARX-related intellectual disability" RELATED [GARD:0005614] synonym: "intellectual developmental disorder, X-linked 29, X-linked recessive" EXACT [OMIM:300419, OMIM:genemap2] synonym: "intellectual disability, X-linked 29" RELATED [OMIM:300419] @@ -200630,6 +204221,7 @@ synonym: "mental retardation, X-linked, with or without seizures, arx-related" R synonym: "MRX52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504] synonym: "MRXARX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419] xref: DOID:0112021 {source="MONDO:equivalentTo"} +xref: GARD:5614 {source="OMIM:300419"} xref: MESH:C563150 {source="MONDO:equivalentTo"} xref: MESH:C564502 {source="MONDO:equivalentObsolete"} xref: OMIM:300419 {source="MONDO:equivalentTo"} @@ -200645,7 +204237,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010318 name: FG syndrome 4 def: "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009925"} synonym: "CASK FG syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "cask FG syndrome" EXACT [MONDO:design_pattern] synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422] @@ -200673,6 +204264,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9925/x-linke id: MONDO:0010319 name: syndromic X-linked intellectual disability Hedera type def: "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." [Orphanet:93952] +subset: gard_rare {source="GARD:16834"} subset: ordo_disease {source="Orphanet:93952"} synonym: "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" EXACT [OMIM:300423, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, Hedera type" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423] @@ -200685,6 +204277,7 @@ synonym: "X-linked intellectual disability with epilepsy" EXACT [DOID:0060806] synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952] synonym: "X-linked mental retardation with epilepsy" EXACT DEPRECATED [DOID:0060806] xref: DOID:0060806 {source="MONDO:equivalentTo"} +xref: GARD:16834 {source="Orphanet:93952"} xref: MESH:C564516 {source="MONDO:equivalentTo"} xref: OMIM:300423 {source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806", source="Orphanet:93952/e"} xref: Orphanet:2076 {source="OMIM:300423"} @@ -200702,7 +204295,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010320 name: retinitis pigmentosa 23 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010391"} +subset: gard_rare {source="GARD:10391"} synonym: "OFD1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 23" EXACT [MONDO:Lexical, OMIM:300424] synonym: "retinitis pigmentosa 23, X-linked recessive" EXACT [OMIM:300424, OMIM:genemap2] @@ -200711,6 +204304,7 @@ synonym: "retinitis pigmentosa type 23" EXACT [DOID:0110412, MONDORULE:2, OMIM:3 synonym: "RP 23" RELATED [GARD:0010391] synonym: "RP23" EXACT ABBREVIATION [DOID:0110412, MONDO:Lexical, OMIM:300424] xref: DOID:0110412 {source="MONDO:equivalentTo"} +xref: GARD:10391 {source="OMIM:300424"} xref: ICD10CM:H35.5 {source="DOID:0110412", source="MONDO:relatedTo"} xref: OMIM:300424 {source="DOID:0110412", source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:300424"} @@ -200747,10 +204341,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010322 name: intellectual disability, X-linked 2 +subset: gard_rare {source="GARD:22675"} synonym: "intellectual disability, X-linked 2" EXACT [MONDO:Lexical, OMIM:300428] synonym: "mental retardation, X-linked 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:300428] synonym: "MRX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300428] xref: DOID:0112016 {source="MONDO:equivalentTo"} +xref: GARD:22675 {source="OMIM:300428"} xref: MESH:C563135 {source="MONDO:equivalentTo"} xref: OMIM:300428 {source="MONDO:equivalentTo"} xref: UMLS:C0796207 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300428"} @@ -200761,10 +204357,12 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010323 name: Atkin-Flaitz syndrome def: "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." [Orphanet:1193] +subset: gard_rare {source="GARD:3537"} subset: ordo_malformation_syndrome {source="Orphanet:1193"} synonym: "Atkin syndrome" RELATED [OMIM:300431] synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431] synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193] +xref: GARD:3537 {source="Orphanet:1193"} xref: ICD10CM:Q87.8 {source="Orphanet:1193/attributed", source="Orphanet:1193/ntbt", source="Orphanet:1193"} xref: OMIM:300431 {source="Orphanet:1193/e", source="MONDO:equivalentTo", source="Orphanet:1193"} xref: Orphanet:1193 {source="MONDO:equivalentTo", source="OMIM:300431"} @@ -200778,11 +204376,13 @@ property_value: confidence "8.375" xsd:double [Term] id: MONDO:0010324 name: intellectual disability, X-linked 81 +subset: gard_rare {source="GARD:22676"} synonym: "intellectual disability, X-linked 81" EXACT [MONDO:Lexical, OMIM:300433] synonym: "mental retardation, X-linked 81" RELATED DEPRECATED [MONDO:Lexical, OMIM:300433] synonym: "mental retardation, X-linked 81, X-linked recessive" EXACT [OMIM:300433, OMIM:genemap2] synonym: "MRX81" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300433] xref: DOID:0112033 {source="MONDO:equivalentTo"} +xref: GARD:22676 {source="OMIM:300433"} xref: MESH:C564515 {source="MONDO:equivalentTo"} xref: OMIM:300433 {source="MONDO:equivalentTo"} xref: UMLS:C1845531 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300433"} @@ -200793,6 +204393,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010325 name: X-linked intellectual disability, Stocco dos Santos type +subset: gard_rare {source="GARD:1133"} subset: ordo_malformation_syndrome {source="Orphanet:85288"} synonym: "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" EXACT [OMIM:300434, OMIM:genemap2] synonym: "intellectual disability, Stocco dos Santos type" RELATED [GARD:0001133] @@ -200805,6 +204406,7 @@ synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133] synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [OMIM:300434] synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300434] xref: DOID:0112126 {source="MONDO:equivalentTo"} +xref: GARD:1133 {source="Orphanet:85288"} xref: ICD10CM:Q87.8 {source="Orphanet:85288", source="Orphanet:85288/attributed", source="Orphanet:85288/ntbt"} xref: MESH:C537495 {source="MONDO:equivalentTo"} xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="Orphanet:85288/e"} @@ -200821,6 +204423,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010326 name: intellectual disability, X-linked 46 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22677"} synonym: "ARHGEF6 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, X-linked 46" EXACT [MONDO:Lexical, OMIM:300436] synonym: "intellectual disability, X-linked type 46" EXACT [MONDORULE:2, OMIM:300436] @@ -200830,6 +204433,7 @@ synonym: "mental retardation, X-linked type 46" EXACT DEPRECATED [MONDORULE:2, O synonym: "MRX46" RELATED DEPRECATED [MONDO:Lexical, OMIM:300436] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6" EXACT [MONDO:design_pattern] xref: DOID:0112055 {source="MONDO:equivalentTo"} +xref: GARD:22677 {source="OMIM:300436"} xref: MESH:C564513 {source="MONDO:equivalentTo"} xref: OMIM:300436 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300436"} @@ -200845,6 +204449,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010327 name: HSD10 mitochondrial disease def: "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." [Orphanet:391417] +subset: gard_rare {source="GARD:10716"} subset: ordo_clinical_subtype {source="Orphanet:85295"} subset: ordo_disease {source="Orphanet:391417"} synonym: "17 beta-hydroxysteroid dehydrogenase type 10 deficiency" RELATED [GARD:0010716] @@ -200876,6 +204481,7 @@ synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010 synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [DOID:0060810, Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" NARROW OMO:0003005 [] xref: DOID:0060810 {source="MONDO:equivalentTo"} +xref: GARD:10716 {source="Orphanet:391417"} xref: ICD10CM:E72.8 {source="Orphanet:391417", source="Orphanet:391417/attributed", source="Orphanet:391417/ntbt"} xref: ICD10CM:G25.5 {source="DOID:0060810", source="Orphanet:85295/attributed", source="Orphanet:85295/ntbt", source="Orphanet:85295"} xref: MESH:C536080 {source="MONDO:equivalentTo"} @@ -200903,6 +204509,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010328 name: alpha-thalassemia-myelodysplastic syndrome def: "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." [Orphanet:231401] +subset: gard_rare {source="GARD:17167"} subset: ordo_disease {source="Orphanet:231401"} synonym: "acquired haemoglobin H disease" EXACT OMO:0003005 [] synonym: "acquired HbH disease" EXACT [Orphanet:231401] @@ -200913,6 +204520,7 @@ synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401 synonym: "Haemoglobin H disease, acquired" RELATED OMO:0003005 [] synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448] xref: DOID:0112125 {source="MONDO:equivalentTo"} +xref: GARD:17167 {source="Orphanet:231401"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563023 {source="MONDO:equivalentTo"} @@ -200931,11 +204539,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010329 name: intellectual disability, X-linked 77 +subset: gard_rare {source="GARD:22678"} synonym: "intellectual disability, X-linked 77" EXACT [MONDO:Lexical, OMIM:300454] synonym: "mental retardation, X-linked 77" RELATED DEPRECATED [MONDO:Lexical, OMIM:300454] synonym: "mental retardation, X-linked 77, X-linked recessive" EXACT [OMIM:300454, OMIM:genemap2] synonym: "MRX77" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300454] xref: DOID:0112039 {source="MONDO:equivalentTo"} +xref: GARD:22678 {source="OMIM:300454"} xref: MESH:C564511 {source="MONDO:equivalentTo"} xref: OMIM:300454 {source="MONDO:equivalentTo"} xref: UMLS:C1845499 {source="MONDO:equivalentTo", source="OMIM:300454", source="MONDO:ncbi_mim2gene_medline"} @@ -200948,9 +204558,11 @@ id: MONDO:0010330 name: obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome def: "OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." [Orphanet:247522] comment: Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term. +subset: gard_rare {source="GARD:17190"} subset: ordo_disease {source="Orphanet:247522"} synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455] xref: DOID:0112124 {source="MONDO:obsoleteEquivalent"} +xref: GARD:17190 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent"} xref: MESH:C567595 {source="MONDO:obsoleteEquivalent"} xref: OMIM:300455 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent", source="Orphanet:247522/e"} xref: Orphanet:247522 {source="MONDO:obsoleteEquivalent", source="OMIM:300455"} @@ -200979,10 +204591,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010332 name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome def: "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." [Orphanet:85280] +subset: gard_rare {source="GARD:16745"} subset: ordo_malformation_syndrome {source="Orphanet:85280"} synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [OMIM:300471] synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [OMIM:300471] synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [OMIM:300471, OMIM:genemap2] +xref: GARD:16745 {source="Orphanet:85280"} xref: ICD10CM:Q87.8 {source="Orphanet:85280", source="Orphanet:85280/attributed", source="Orphanet:85280/ntbt"} xref: MESH:C564510 {source="MONDO:equivalentTo"} xref: OMIM:300471 {source="MONDO:equivalentTo", source="Orphanet:85280", source="Orphanet:85280/e"} @@ -200998,6 +204612,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010333 name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome def: "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." [Orphanet:52055] +subset: gard_rare {source="GARD:12486"} subset: ordo_malformation_syndrome {source="Orphanet:52055"} synonym: "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome" RELATED [GARD:0012486] synonym: "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" EXACT [OMIM:300472, OMIM:genemap2] @@ -201010,6 +204625,7 @@ synonym: "intellectual disability, X-linked, syndromic 28" EXACT [DOID:0060816, synonym: "mental retardation, X-linked, syndromic 28" EXACT DEPRECATED [DOID:0060816, OMIM:300472] synonym: "MRXS28" EXACT ABBREVIATION [DOID:0060816] xref: DOID:0060816 {source="MONDO:equivalentTo"} +xref: GARD:12486 {source="Orphanet:52055"} xref: ICD10CM:Q87.8 {source="Orphanet:52055/attributed", source="Orphanet:52055/ntbt", source="Orphanet:52055", source="DOID:0060816"} xref: MESH:C564509 {source="MONDO:equivalentTo"} xref: OMIM:300472 {source="Orphanet:52055/e", source="MONDO:equivalentTo", source="Orphanet:52055", source="DOID:0060816"} @@ -201030,12 +204646,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010334 name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome def: "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." [Orphanet:369939] +subset: gard_rare {source="GARD:17592"} subset: ordo_malformation_syndrome {source="Orphanet:369939"} synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475] synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [OMIM:300475, OMIM:genemap2] xref: DOID:0112123 {source="MONDO:equivalentTo"} +xref: GARD:17592 {source="Orphanet:369939"} xref: ICD10CM:Q87.8 {source="Orphanet:369939", source="Orphanet:369939/attributed", source="Orphanet:369939/ntbt"} xref: MESH:C564508 {source="MONDO:equivalentTo"} xref: OMIM:300475 {source="Orphanet:369939/e", source="MONDO:equivalentTo", source="Orphanet:369939"} @@ -201056,7 +204674,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010335 name: X-linked cone-rod dystrophy 3 -subset: gard_rare {source="GARD:0010654"} +subset: gard_rare {source="GARD:10654"} synonym: "cone-rod dystrophy X-linked 3" RELATED [GARD:0010654] synonym: "cone-rod dystrophy, X-linked, 3" RELATED [MONDO:Lexical, OMIM:300476] synonym: "cone-rod dystrophy, X-linked, 3, X-linked recessive" EXACT [OMIM:300476, OMIM:genemap2] @@ -201064,6 +204682,7 @@ synonym: "cone-rod dystrophy, X-linked, type 3" EXACT [MONDORULE:1, OMIM:300476] synonym: "CORDX3" EXACT ABBREVIATION [DOID:0111007, MONDO:Lexical, OMIM:300476] synonym: "X-linked cone-rod dystrophy type 3" EXACT [DOID:0111007, MONDORULE:1] xref: DOID:0111007 {source="MONDO:equivalentTo"} +xref: GARD:10654 {source="OMIM:300476"} xref: MESH:C564507 {source="MONDO:equivalentTo"} xref: OMIM:300476 {source="DOID:0111007", source="MONDO:equivalentTo"} xref: UMLS:C1845407 {source="OMIM:300476", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -201078,6 +204697,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10654/cone-r id: MONDO:0010336 name: orofaciodigital syndrome VIII def: "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." [Orphanet:2755] +subset: gard_rare {source="GARD:4060"} subset: ordo_malformation_syndrome {source="Orphanet:2755"} synonym: "Edwards syndrome" RELATED EXCLUDE [DOID:0060378] synonym: "OFD syndrome 8" RELATED [GARD:0004060] @@ -201096,6 +204716,7 @@ synonym: "orofaciodigital syndrome VIII" EXACT [MONDO:Lexical, OMIM:300484] synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [OMIM:300484, OMIM:genemap2] synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755] xref: DOID:0060378 {source="MONDO:equivalentTo"} +xref: GARD:4060 {source="Orphanet:2755"} xref: ICD10CM:Q87.0 {source="Orphanet:2755", source="Orphanet:2755/attributed", source="Orphanet:2755/ntbt"} xref: MESH:C557820 {source="DOID:0060378", source="MONDO:equivalentTo"} xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="Orphanet:2755/e"} @@ -201111,7 +204732,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010337 name: X-linked intellectual disability-cerebellar hypoplasia syndrome def: "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." [Orphanet:137831] -subset: gard_rare +subset: gard_rare {source="GARD:9947"} subset: ordo_disease {source="Orphanet:137831"} synonym: "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" EXACT [OMIM:300486, OMIM:genemap2] synonym: "intellectual disability X-linked 60 (formerly)" RELATED [GARD:0009947] @@ -201134,6 +204755,7 @@ synonym: "OPHN1- related XLID" RELATED [GARD:0013093] synonym: "X-linked intellectual Deficit with cerebellar Hypoplasia" RELATED [GARD:0013093] synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0080311 {source="MONDO:equivalentTo"} +xref: GARD:9947 {source="Orphanet:137831"} xref: ICD10CM:Q04.3 {source="Orphanet:137831", source="Orphanet:137831/attributed", source="Orphanet:137831/ntbt"} xref: MESH:C537456 {source="MONDO:equivalentTo"} xref: OMIM:300486 {source="Orphanet:137831", source="GARD:0009947", source="MONDO:equivalentTo", source="Orphanet:137831/e"} @@ -201155,6 +204777,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9947/mental- id: MONDO:0010338 name: X-linked distal spinal muscular atrophy type 3 def: "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." [Orphanet:139557] +subset: gard_rare {source="GARD:16957"} subset: ordo_disease {source="Orphanet:139557"} synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557] @@ -201172,6 +204795,7 @@ synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:13 synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557] synonym: "X-linked dSMA3" EXACT [Orphanet:139557] xref: DOID:0111196 {source="MONDO:equivalentTo"} +xref: GARD:16957 {source="Orphanet:139557"} xref: ICD10CM:G12.2 {source="Orphanet:139557/attributed", source="Orphanet:139557/ntbt", source="Orphanet:139557"} xref: MESH:C564506 {source="MONDO:equivalentTo"} xref: OMIM:300489 {source="Orphanet:139557", source="MONDO:equivalentTo", source="Orphanet:139557/e"} @@ -201192,6 +204816,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010339 name: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders def: "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." [Orphanet:85294] +subset: gard_rare {source="GARD:16748"} subset: ordo_disease {source="Orphanet:85294"} synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491] synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2] @@ -201199,6 +204824,7 @@ synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant" EXACT OMO:0003005 [] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_PREFERRED [Orphanet:85294] xref: DOID:0112122 {source="MONDO:equivalentTo"} +xref: GARD:16748 {source="Orphanet:85294"} xref: ICD10CM:Q87.8 {source="Orphanet:85294/attributed", source="Orphanet:85294/ntbt", source="Orphanet:85294"} xref: MESH:C564505 {source="MONDO:equivalentTo"} xref: OMIM:300491 {source="Orphanet:85294/e", source="MONDO:equivalentTo", source="Orphanet:85294"} @@ -201310,6 +204936,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010344 name: intellectual disability, X-linked 45 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22679"} synonym: "intellectual disability, X-linked 45" EXACT [MONDO:Lexical, OMIM:300498] synonym: "intellectual disability, X-linked type 45" EXACT [MONDORULE:2, OMIM:300498] synonym: "mental retardation, X-linked 45" EXACT DEPRECATED [MONDO:Lexical, OMIM:300498, OMIM:genemap2] @@ -201318,6 +204945,7 @@ synonym: "MRX45" RELATED DEPRECATED [MONDO:Lexical, OMIM:300498] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF81" EXACT [MONDO:design_pattern] synonym: "ZNF81 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112028 {source="MONDO:equivalentTo"} +xref: GARD:22679 {source="OMIM:300498"} xref: MESH:C564503 {source="MONDO:equivalentTo"} xref: OMIM:300498 {source="MONDO:equivalentTo"} xref: UMLS:C1845333 {source="MONDO:equivalentTo", source="OMIM:300498", source="MONDO:ncbi_mim2gene_medline"} @@ -201346,11 +204974,13 @@ replaced_by: MONDO:0010317 [Term] id: MONDO:0010347 name: intellectual disability, X-linked 84 +subset: gard_rare {source="GARD:22680"} synonym: "intellectual disability, X-linked 84" EXACT [MONDO:Lexical, OMIM:300505] synonym: "mental retardation, X-linked 84" RELATED DEPRECATED [MONDO:Lexical, OMIM:300505] synonym: "mental retardation, X-linked 84, X-linked recessive" EXACT [OMIM:300505, OMIM:genemap2] synonym: "MRX84" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300505] xref: DOID:0112030 {source="MONDO:equivalentTo"} +xref: GARD:22680 {source="OMIM:300505"} xref: MESH:C564501 {source="MONDO:equivalentTo"} xref: OMIM:300505 {source="MONDO:equivalentTo"} xref: UMLS:C1845297 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300505"} @@ -201375,6 +205005,7 @@ relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000- id: MONDO:0010349 name: ovarian dysgenesis 2 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18040"} synonym: "BMP15 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ODG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300510] synonym: "ovarian dysgenesis 2" EXACT [MONDO:Lexical, OMIM:300510] @@ -201385,6 +205016,7 @@ synonym: "premature ovarian failure 4" RELATED [OMIM:300510] synonym: "primary ovarian failure caused by mutation in BMP15" EXACT [MONDO:design_pattern] xref: DOID:0080494 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0080861 {source="MONDO:equivalentTo"} +xref: GARD:18040 {source="OMIM:300510"} xref: MESH:C564499 {source="MONDO:equivalentTo"} xref: OMIM:300510 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:300510"} @@ -201424,6 +205056,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010351 name: Fanconi anemia complementation group B def: "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." [NCIT:C125703] +subset: gard_rare {source="GARD:15257"} synonym: "FA2" EXACT ABBREVIATION [DOID:0111098] synonym: "FACB" EXACT ABBREVIATION [DOID:0111098, OMIM:300514] synonym: "FANCB" EXACT ABBREVIATION [DOID:0111098, MONDO:Lexical, OMIM:300514] @@ -201436,6 +205069,7 @@ synonym: "Fanconi Anemia, complementation group type B" EXACT [MONDORULE:1, OMIM synonym: "Fanconi pancytopenia type 2" EXACT [DOID:0111098] synonym: "Fanconi pancytopenia, type 2" RELATED [OMIM:300514] xref: DOID:0111098 {source="MONDO:equivalentTo"} +xref: GARD:15257 {source="OMIM:300514"} xref: MESH:C564497 {source="MONDO:equivalentTo"} xref: NCIT:C125703 {source="MONDO:equivalentTo"} xref: OMIM:300514 {source="MONDO:equivalentTo", source="DOID:0111098"} @@ -201449,11 +205083,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010352 name: intellectual disability, X-linked 82 +subset: gard_rare {source="GARD:22681"} synonym: "intellectual disability, X-linked 82" EXACT [MONDO:Lexical, OMIM:300518] synonym: "mental retardation, X-linked 82" RELATED DEPRECATED [MONDO:Lexical, OMIM:300518] synonym: "mental retardation, X-linked 82, X-linked recessive" EXACT [OMIM:300518, OMIM:genemap2] synonym: "MRX82" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300518] xref: DOID:0112052 {source="MONDO:equivalentTo"} +xref: GARD:22681 {source="OMIM:300518"} xref: MESH:C564496 {source="MONDO:equivalentTo"} xref: OMIM:300518 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300518"} @@ -201466,6 +205102,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010353 name: deafness-intellectual disability, Martin-Probst type syndrome def: "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." [Orphanet:85321] +subset: gard_rare {source="GARD:16750"} subset: ordo_malformation_syndrome {source="Orphanet:85321"} synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [Orphanet:85321] synonym: "intellectual disability, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical, OMIM:300519] @@ -201479,6 +205116,7 @@ synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEP synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321] xref: DOID:0060830 {source="MONDO:equivalentTo"} +xref: GARD:16750 {source="Orphanet:85321"} xref: ICD10CM:Q87.8 {source="Orphanet:85321", source="Orphanet:85321/attributed", source="Orphanet:85321/ntbt", source="DOID:0060830"} xref: MESH:C564495 {source="MONDO:equivalentTo"} xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="Orphanet:85321/e", source="DOID:0060830"} @@ -201495,7 +205133,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010354 name: Allan-Herndon-Dudley syndrome def: "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." [Orphanet:59] -subset: gard_rare {source="GARD:0005617"} +subset: gard_rare {source="GARD:5617"} subset: ordo_clinical_subtype {source="Orphanet:59"} synonym: "AHDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300523, Orphanet:59] synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631] @@ -201517,6 +205155,7 @@ synonym: "triiodothyronine resistence" RELATED [GARD:0005617] synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617] synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59] xref: DOID:0050631 {source="MONDO:equivalentTo"} +xref: GARD:5617 {source="Orphanet:59"} xref: ICD10CM:E03.1 {source="Orphanet:59/attributed", source="Orphanet:59/ntbt"} xref: ICD10CM:G31.8 {source="Orphanet:59"} xref: MESH:C537047 {source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} @@ -201540,6 +205179,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5617/allan-h [Term] id: MONDO:0010355 name: syndromic X-linked intellectual disability Claes-Jensen type +subset: gard_rare {source="GARD:16744"} subset: ordo_malformation_syndrome {source="Orphanet:85279"} synonym: "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" EXACT [OMIM:300534, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, Claes-Jensen type" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534] @@ -201553,6 +205193,7 @@ synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EX synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [DOID:0060809] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT DEPRECATED [DOID:0060809] xref: DOID:0060809 {source="MONDO:equivalentTo"} +xref: GARD:16744 {source="Orphanet:85279"} xref: ICD10CM:Q87.8 {source="Orphanet:85279", source="DOID:0060809", source="Orphanet:85279/attributed", source="Orphanet:85279/ntbt"} xref: MESH:C564494 {source="MONDO:equivalentTo"} xref: OMIM:300534 {source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo", source="Orphanet:85279/e"} @@ -201572,11 +205213,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010356 name: nephrogenic syndrome of inappropriate antidiuresis def: "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." [Orphanet:93606] +subset: gard_rare {source="GARD:10306"} subset: ordo_disease {source="Orphanet:93606"} synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539] synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [OMIM:300539, OMIM:genemap2] synonym: "NSIAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300539, Orphanet:93606] xref: DOID:0112121 {source="MONDO:equivalentTo"} +xref: GARD:10306 {source="Orphanet:93606"} xref: ICD10CM:E22.2 {source="Orphanet:93606/attributed", source="Orphanet:93606/ntbt", source="Orphanet:93606"} xref: MESH:C564491 {source="MONDO:equivalentTo"} xref: OMIM:300539 {source="Orphanet:93606/e", source="MONDO:equivalentTo", source="Orphanet:93606"} @@ -201603,10 +205246,12 @@ id: MONDO:0010358 name: hypophosphatemic rickets, X-linked recessive def: "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations +subset: gard_rare {source="GARD:15011"} synonym: "CLCN5 X-linked hypophosphatemic rickets" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "hypophosphatemic rickets, X-linked recessive" EXACT [OMIM:300554] synonym: "X-linked hypophosphatemic rickets caused by mutation in CLCN5" EXACT [] xref: DOID:0080353 {source="MONDO:equivalentTo"} +xref: GARD:15011 {source="OMIM:300554"} xref: OMIM:300554 {source="DOID:0080353", source="MONDO:equivalentTo"} xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:300554"} xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:300554"} @@ -201624,6 +205269,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010359 name: Dent disease type 2 def: "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." [Orphanet:93623] +subset: gard_rare {source="GARD:10645"} subset: ordo_clinical_subtype {source="Orphanet:93623"} synonym: "DENT disease 2" RELATED [OMIM:300555] synonym: "dent disease 2, X-linked recessive" EXACT [OMIM:300555, OMIM:genemap2] @@ -201631,6 +205277,7 @@ synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern] synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555] synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:10645 {source="Orphanet:93623"} xref: ICD10CM:N25.8 {source="Orphanet:93623", source="Orphanet:93623/attributed", source="Orphanet:93623/ntbt"} xref: MESH:C564487 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:300555 {source="MONDO:equivalentTo", source="Orphanet:93623", source="Orphanet:93623/e"} @@ -201649,9 +205296,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010360 name: parkinson disease 12 +subset: gard_rare {source="GARD:18604"} synonym: "PARK12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300557] synonym: "Parkinson disease 12" RELATED [MONDO:Lexical, OMIM:300557] synonym: "Parkinson disease, X-linked" RELATED [OMIM:300557] +xref: GARD:18604 {source="OMIM:300557"} xref: MESH:C564486 {source="MONDO:equivalentTo"} xref: OMIM:300557 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:300557"} @@ -201664,6 +205313,7 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0010361 name: intellectual disability, X-linked 30 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22682"} synonym: "intellectual developmental disorder, X-linked 30, X-linked recessive" EXACT [OMIM:300558, OMIM:genemap2] synonym: "intellectual disability, X-linked 30" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300558] synonym: "intellectual disability, X-linked 47" RELATED [OMIM:300558] @@ -201675,6 +205325,7 @@ synonym: "MRX30" RELATED DEPRECATED [MONDO:Lexical, OMIM:300558] synonym: "non-syndromic X-linked intellectual disability caused by mutation in PAK3" EXACT [MONDO:design_pattern] synonym: "PAK3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112051 {source="MONDO:equivalentTo"} +xref: GARD:22682 {source="OMIM:300558"} xref: OMIM:300558 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300558"} xref: UMLS:C0796237 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300558"} @@ -201690,7 +205341,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010362 name: glycogen storage disease IXd def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." [https://www.ncbi.nlm.nih.gov/books/NBK55061/] -subset: gard_rare +subset: gard_rare {source="GARD:3858"} subset: ordo_disease {source="Orphanet:715"} synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/] @@ -201720,6 +205371,7 @@ synonym: "PHKA1 glycogen storage disease" EXACT [https://www.ncbi.nlm.nih.gov/bo synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "X-linked muscke glycogenosis" RELATED EXCLUDE [DOID:0111040] xref: DOID:0111040 {source="MONDO:equivalentTo"} +xref: GARD:3858 {source="Orphanet:715"} xref: ICD10CM:E74.0 {source="Orphanet:715", source="DOID:0111040", source="Orphanet:715/attributed", source="Orphanet:715/ntbt"} xref: MESH:C564485 {source="MONDO:equivalentTo"} xref: OMIM:300559 {source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:715/e"} @@ -201761,6 +205413,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010364 name: X-linked intellectual disability-retinitis pigmentosa syndrome def: "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." [Orphanet:85332] +subset: gard_rare {source="GARD:8360"} subset: ordo_disease {source="Orphanet:85332"} synonym: "Aldred syndrome" EXACT [Orphanet:85332] synonym: "chromosome Xp11.3 deletion syndrome" RELATED [OMIM:300578] @@ -201773,6 +205426,7 @@ synonym: "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" synonym: "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" EXACT [Orphanet:85332] synonym: "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" EXACT [Orphanet:85332] synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" RELATED [GARD:0008360] +xref: GARD:8360 {source="Orphanet:85332"} xref: ICD10CM:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="Orphanet:85332/attributed", source="Orphanet:85332/ntbt"} xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="Orphanet:85332/e"} xref: Orphanet:85332 {source="MONDO:equivalentTo", source="OMIM:300578"} @@ -201793,10 +205447,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010365 name: myopathy, congenital, with fiber-type disproportion, X-linked +subset: gard_rare {source="GARD:15258"} synonym: "CFTDX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300580] synonym: "myopathy, congenital, with fiber-type disproportion, X-linked" EXACT [MONDO:Lexical, OMIM:300580] synonym: "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant" EXACT [OMIM:300580, OMIM:genemap2] xref: DOID:0111226 {source="MONDO:equivalentTo"} +xref: GARD:15258 {source="OMIM:300580"} xref: MESH:C567594 {source="MONDO:equivalentTo"} xref: OMIM:300580 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="OMIM:300580"} @@ -201820,12 +205476,14 @@ is_a: MONDO:0002010 {source="DC-OMIM:300581"} ! FG syndrome id: MONDO:0010367 name: SHOX-related short stature def: "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." [Orphanet:314795] +subset: gard_rare {source="GARD:17434"} subset: ordo_disease {source="Orphanet:314795"} synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300582] synonym: "short stature, idiopathic familial" EXACT [OMIM:300582, OMIM:genemap2] synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582] xref: DOID:0112120 {source="MONDO:equivalentTo"} xref: EFO:0008989 {source="MONDO:equivalentTo"} +xref: GARD:17434 {source="Orphanet:314795"} xref: ICD10CM:Q87.1 {source="Orphanet:314795/attributed", source="Orphanet:314795/ntbt", source="Orphanet:314795"} xref: MESH:C564479 {source="MONDO:equivalentTo"} xref: OMIM:300582 {source="Orphanet:314795/e", source="MONDO:equivalentTo", source="Orphanet:314795"} @@ -201867,6 +205525,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010370 name: Cornelia de Lange syndrome 2 def: "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." [NCIT:C75485] +subset: gard_rare {source="GARD:15259"} synonym: "Cdls, X-linked" RELATED [OMIM:300590] synonym: "CDLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300590] synonym: "Cornelia DE Lange syndrome 2" RELATED [OMIM:300590] @@ -201878,6 +205537,7 @@ synonym: "Cornelia De Lange syndrome, X-linked" RELATED [OMIM:300590] synonym: "SMC1A Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked Cornelia De Lange syndrome" EXACT [NCIT:C75485] xref: DOID:0080506 {source="MONDO:equivalentTo"} +xref: GARD:15259 {source="OMIM:300590"} xref: NCIT:C75485 {source="MONDO:equivalentTo"} xref: OMIM:300590 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:300590"} @@ -201895,6 +205555,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010371 name: Aland island eye disease def: "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." [Orphanet:178333] +subset: gard_rare {source="GARD:10574"} subset: ordo_disease {source="Orphanet:178333"} synonym: "AIED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300600, Orphanet:178333] synonym: "ALAND ISLAND eye disease" RELATED [OMIM:300600] @@ -201905,6 +205566,7 @@ synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630] synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:178333] synonym: "Åland Islands eye disease" RELATED [Orphanet:178333] xref: DOID:0050630 {source="MONDO:equivalentTo"} +xref: GARD:10574 {source="Orphanet:178333"} xref: ICD10CM:H35.5 {source="Orphanet:178333", source="Orphanet:178333/attributed", source="Orphanet:178333/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C562664 {source="MONDO:equivalentTo"} xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="MONDO:equivalentTo", source="Orphanet:178333/e"} @@ -201952,12 +205614,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010374 name: retinitis pigmentosa 34 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." [DOID:0110417, PMID:16740911] -subset: gard_rare {source="GARD:0010390"} +subset: gard_rare {source="GARD:10390"} synonym: "retinitis pigmentosa 34" EXACT [MONDO:Lexical, OMIM:300605] synonym: "retinitis pigmentosa type 34" EXACT [DOID:0110417, MONDORULE:2] synonym: "RP 34" RELATED [GARD:0010390] synonym: "RP34" EXACT ABBREVIATION [DOID:0110417, MONDO:Lexical, OMIM:300605] xref: DOID:0110417 {source="MONDO:equivalentTo"} +xref: GARD:10390 {source="OMIM:300605"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110417"} xref: MESH:C564475 {source="MONDO:equivalentTo"} xref: OMIM:300605 {source="DOID:0110417", source="MONDO:equivalentTo"} @@ -201968,6 +205631,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10390/retini [Term] id: MONDO:0010375 name: developmental and epileptic encephalopathy, 8 +subset: gard_rare {source="GARD:17010"} subset: ordo_disease {source="Orphanet:163985"} synonym: "DEE8" EXACT ABBREVIATION [OMIM:300607] synonym: "developmental and epileptic encephalopathy 8" EXACT [OMIM:300607, OMIM:genemap2] @@ -201978,6 +205642,7 @@ synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607] synonym: "hyperekplexia-epilepsy syndrome" EXACT [Orphanet:163985] xref: DOID:0080215 {source="MONDO:equivalentTo"} +xref: GARD:17010 {source="Orphanet:163985"} xref: ICD10CM:G25.8 {source="Orphanet:163985/attributed", source="Orphanet:163985/ntbt", source="Orphanet:163985"} xref: MESH:C564474 {source="MONDO:equivalentTo"} xref: OMIM:300607 {source="Orphanet:163985/e", source="MONDO:equivalentTo", source="DOID:0080215", source="Orphanet:163985"} @@ -202017,7 +205682,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010378 name: X-linked hereditary sensory and autonomic neuropathy with hearing loss def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." [Orphanet:139583] -subset: gard_rare {source="GARD:0012731"} +subset: gard_rare {source="GARD:12731"} subset: ordo_disease {source="Orphanet:139583"} synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [OMIM:300614] synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical, OMIM:300614] @@ -202027,6 +205692,7 @@ synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1 synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW CLINGEN_PREFERRED [OMIM:300614] synonym: "X-linked HSAN with deafness" NARROW [Orphanet:139583] xref: DOID:0111741 {source="MONDO:equivalentTo"} +xref: GARD:12731 {source="Orphanet:139583"} xref: ICD10CM:G60.8 {source="Orphanet:139583", source="Orphanet:139583/attributed", source="Orphanet:139583/ntbt"} xref: MESH:C564472 {source="MONDO:equivalentTo"} xref: OMIM:300614 {source="Orphanet:139583/e", source="MONDO:equivalentTo", source="Orphanet:139583"} @@ -202048,6 +205714,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12731/x-link id: MONDO:0010379 name: Brunner syndrome def: "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." [Orphanet:3057] +subset: gard_rare {source="GARD:3531"} subset: ordo_disease {source="Orphanet:3057"} synonym: "antisocial behavior, susceptibility to" RELATED [OMIM:300615] synonym: "antisocial behavior, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] @@ -202056,6 +205723,7 @@ synonym: "Brunner syndrome" EXACT CLINGEN_PREFERRED [OMIM:300615, Orphanet:3057] synonym: "Brunner syndrome, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693] xref: DOID:0060693 {source="MONDO:equivalentTo"} +xref: GARD:3531 {source="Orphanet:3057"} xref: ICD10CM:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="Orphanet:3057/attributed", source="Orphanet:3057/ntbt"} xref: MESH:C563156 {source="DOID:0060693", source="MONDO:equivalentTo"} xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="MONDO:equivalentTo", source="Orphanet:3057/e"} @@ -202101,6 +205769,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010382 name: fragile X-associated tremor/ataxia syndrome def: "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." [Orphanet:93256] +subset: gard_rare {source="GARD:16806"} subset: ordo_malformation_syndrome {source="Orphanet:93256"} synonym: "fragile 10 tremor/ataxia syndrome" RELATED [OMIM:300623] synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical, OMIM:300623] @@ -202108,6 +205777,7 @@ synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [OMIM:30062 synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300623] synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256] xref: DOID:0050879 {source="MONDO:equivalentTo"} +xref: GARD:16806 {source="Orphanet:93256"} xref: ICD10CM:G11.2 {source="Orphanet:93256/attributed", source="Orphanet:93256/ntbt", source="Orphanet:93256"} xref: MESH:C564105 {source="MONDO:equivalentTo"} xref: NCIT:C126566 {source="MONDO:equivalentTo"} @@ -202129,6 +205799,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010383 name: fragile X syndrome def: "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." [NCIT:P378] +subset: gard_rare {source="GARD:6464"} subset: ordo_malformation_syndrome {source="Orphanet:908"} synonym: "fra(X) syndrome" RELATED [GARD:0006464] synonym: "fragile 10 intellectual disability syndrome" RELATED [OMIM:300624] @@ -202151,6 +205822,7 @@ synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [OMIM:300 synonym: "X-linked intellectual disability and macroorchidism" RELATED [OMIM:300624] synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [OMIM:300624] xref: DOID:14261 {source="MONDO:equivalentTo"} +xref: GARD:6464 {source="Orphanet:908"} xref: ICD10CM:Q99.2 {source="Orphanet:908/e", source="Orphanet:908/specific", source="DOID:14261", source="Orphanet:908"} xref: ICD9:759.83 {source="DOID:14261", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10017324 {source="Orphanet:908/e", source="Orphanet:908"} @@ -202181,9 +205853,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010384 name: hypospadias 1, X-linked +subset: gard_rare {source="GARD:18185"} synonym: "hypospadias 1, X-linked" EXACT [MONDO:Lexical, OMIM:300633] synonym: "hypospadias 1, X-linked, X-linked recessive" EXACT [OMIM:300633, OMIM:genemap2] synonym: "HYSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300633] +xref: GARD:18185 {source="OMIM:300633"} xref: MESH:C567482 {source="MONDO:equivalentTo"} xref: OMIM:300633 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:300633"} @@ -202197,7 +205871,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010385 name: X-linked lymphoproliferative disease due to XIAP deficiency def: "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2." [NCIT:C126295] -subset: gard_rare {source="GARD:0010916"} +subset: gard_rare {source="GARD:10916"} subset: ordo_disease synonym: "lymphoproliferative syndrome, X-linked, 2" RELATED [GARD:0010916, MONDO:Lexical, OMIM:300635] synonym: "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" EXACT [OMIM:300635, OMIM:genemap2] @@ -202210,6 +205884,7 @@ synonym: "XIAP deficiency/XLPs" EXACT [NCIT:C126295] synonym: "XIAP-related lymphoproliferative disease, X-linked" RELATED [GARD:0010916] synonym: "XLP2" EXACT ABBREVIATION [DOID:0060706, MONDO:Lexical, OMIM:300635] xref: DOID:0060706 {source="MONDO:equivalentTo"} +xref: GARD:10916 {source="Orphanet:538934"} xref: ICD10CM:D82.3 {source="DOID:0060706"} xref: MESH:C564469 {source="MONDO:equivalentTo"} xref: NCIT:C126295 {source="MONDO:equivalentTo"} @@ -202233,7 +205908,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10916/x-link id: MONDO:0010386 name: immunodeficiency 33 def: "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009917"} subset: ordo_etiological_subtype {source="Orphanet:319612"} synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [OMIM:300636] synonym: "familial X-linked 1 atypical mycobacteriosis" RELATED [GARD:0012915] @@ -202284,12 +205958,14 @@ replaced_by: MONDO:0010386 [Term] id: MONDO:0010388 name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +subset: gard_rare {source="GARD:18282"} synonym: "RESDX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300643] synonym: "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT [OMIM:300643, OMIM:genemap2] synonym: "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked" RELATED [OMIM:300643] synonym: "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" EXACT [MONDO:Lexical, OMIM:300643] synonym: "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" RELATED DEPRECATED [OMIM:300643] synonym: "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" EXACT DEPRECATED [MONDO:Lexical, OMIM:300643] +xref: GARD:18282 {source="OMIM:300643"} xref: MESH:C564467 {source="MONDO:equivalentTo"} xref: OMIM:300643 {source="MONDO:equivalentTo"} xref: Orphanet:163721 {source="OMIM:300643"} @@ -202303,6 +205979,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010389 name: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency def: "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17465"} subset: ordo_etiological_subtype {source="Orphanet:319623"} subset: predisposition synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [OMIM:300645] @@ -202315,6 +205992,7 @@ synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645] synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623] xref: DOID:0112000 {source="MONDO:equivalentTo"} +xref: GARD:17465 {source="Orphanet:319623"} xref: ICD10CM:D84.8 {source="Orphanet:319623/attributed", source="Orphanet:319623/ntbt", source="Orphanet:319623"} xref: MESH:C567068 {source="MONDO:equivalentTo"} xref: OMIM:300645 {source="Orphanet:319623/e", source="MONDO:equivalentTo", source="Orphanet:319623"} @@ -202332,12 +206010,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010390 name: ocular albinism with late-onset sensorineural deafness def: "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." [Orphanet:1000] +subset: gard_rare {source="GARD:592"} subset: ordo_disease {source="Orphanet:1000"} synonym: "albinism ocular late onset sensorineural deafness" RELATED [GARD:0000592] synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical, OMIM:300650] synonym: "deafness and ocular albinism" RELATED [OMIM:300650] synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300650] synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650] +xref: GARD:592 {source="Orphanet:1000"} xref: ICD10CM:E70.3 {source="Orphanet:1000", source="Orphanet:1000/attributed", source="Orphanet:1000/ntbt"} xref: MESH:C537043 {source="Orphanet:1000", source="Orphanet:1000/e"} xref: OMIM:300650 {source="Orphanet:1000", source="MONDO:equivalentTo", source="Orphanet:1000/e"} @@ -202350,8 +206030,10 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0010391 name: angioma serpiginosum, X-linked +subset: gard_rare {source="GARD:10188"} synonym: "angio serpiginosum, X-linked dominant" EXACT [OMIM:300652, OMIM:genemap2] synonym: "angioma serpiginosum, X-linked" EXACT [OMIM:300652] +xref: GARD:10188 {source="OMIM:300652"} xref: MESH:C536366 {source="MONDO:equivalentTo"} xref: OMIM:300652 {source="MONDO:equivalentTo"} xref: Orphanet:95429 {source="OMIM:300652"} @@ -202364,6 +206046,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010392 name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency def: "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." [Orphanet:713] +subset: gard_rare {source="GARD:7389"} subset: ordo_disease {source="Orphanet:713"} synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT CLINGEN_PREFERRED [] @@ -202376,6 +206059,7 @@ synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653] synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [OMIM:300653, OMIM:genemap2] synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: DOID:0111933 {source="MONDO:equivalentTo"} +xref: GARD:7389 {source="Orphanet:713"} xref: ICD10CM:E74.0 {source="Orphanet:713/attributed", source="Orphanet:713/ntbt", source="Orphanet:713"} xref: MESH:C567067 {source="MONDO:equivalentTo"} xref: NCIT:C126738 {source="MONDO:equivalentTo"} @@ -202432,6 +206116,7 @@ replaced_by: MONDO:0010275 id: MONDO:0010395 name: phosphoribosylpyrophosphate synthetase superactivity def: "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." [Orphanet:3222] +subset: gard_rare {source="GARD:4337"} subset: ordo_disease {source="Orphanet:3222"} synonym: "gout, PRPS-related" RELATED [OMIM:300661] synonym: "gout, PRPS-related, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2] @@ -202440,6 +206125,7 @@ synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessi synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222] synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222] xref: DOID:0111260 {source="MONDO:equivalentTo"} +xref: GARD:4337 {source="Orphanet:3222"} xref: ICD10CM:E79.8 {source="Orphanet:3222", source="Orphanet:3222/attributed", source="Orphanet:3222/ntbt"} xref: MESH:C567064 {source="MONDO:equivalentTo"} xref: OMIM:300661 {source="Orphanet:3222", source="MONDO:equivalentTo", source="Orphanet:3222/e"} @@ -202458,6 +206144,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010396 name: developmental and epileptic encephalopathy, 2 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18617", source="GARD:12173"} subset: ordo_disease synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE2" EXACT ABBREVIATION [OMIM:300672] @@ -202469,6 +206156,8 @@ synonym: "epileptic encephalopathy, early infantile, 2" EXACT [MONDO:Lexical, OM synonym: "epileptic encephalopathy, early infantile, type 2" EXACT [MONDORULE:1, OMIM:300672] synonym: "infantile spasm syndrome, X-linked 2" RELATED [OMIM:300672] xref: DOID:0080467 {source="MONDO:equivalentTo"} +xref: GARD:12173 {source="Orphanet:505652"} +xref: GARD:18617 {source="OMIM:300672"} xref: ICD10CM:G40.4 {source="Orphanet:505652"} xref: MESH:C564064 {source="MONDO:equivalentTo"} xref: OMIM:300672 {source="MONDO:equivalentTo", source="Orphanet:505652"} @@ -202488,12 +206177,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010397 name: severe neonatal-onset encephalopathy with microcephaly def: "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." [NCIT:C132293] +subset: gard_rare {source="GARD:17103"} subset: ordo_disease {source="Orphanet:209370"} synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM:300673] synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [OMIM:300673, OMIM:genemap2] synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370] synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293] xref: DOID:0111932 {source="MONDO:equivalentTo"} +xref: GARD:17103 {source="Orphanet:209370"} xref: ICD10CM:Q02 {source="Orphanet:209370", source="Orphanet:209370/attributed", source="Orphanet:209370/ntbt"} xref: MESH:C566878 {source="MONDO:equivalentTo"} xref: NCIT:C132293 {source="MONDO:equivalentTo"} @@ -202543,6 +206234,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010399 name: chromosome Xp21 deletion syndrome +subset: gard_rare {source="GARD:17246"} subset: ordo_disease {source="Orphanet:261476"} synonym: "chromosome Xp21 deletion syndrome" EXACT [OMIM:300679] synonym: "Complex Glycerol kinase deficiency" RELATED [OMIM:300679] @@ -202553,6 +206245,7 @@ synonym: "monosomy Xp21" EXACT [DOID:0060427] synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476] synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476] xref: DOID:0060427 {source="MONDO:equivalentTo"} +xref: GARD:17246 {source="Orphanet:261476"} xref: ICD10CM:Q99.8 {source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/attributed", source="Orphanet:261476/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300679 {source="MONDO:equivalentTo", source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/e"} @@ -202571,6 +206264,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010400 name: X-linked scapuloperoneal muscular dystrophy def: "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." [Orphanet:431272] +subset: gard_rare {source="GARD:7608"} subset: ordo_disease {source="Orphanet:431272"} synonym: "scapuloperoneal myopathy, FHL1-related" RELATED [OMIM:300695] synonym: "scapuloperoneal myopathy, X-linked dominant" RELATED [MONDO:Lexical, OMIM:300695] @@ -202578,6 +206272,7 @@ synonym: "scapuloperoneal myopathy, X-linked dominant, X-linked dominant" EXACT synonym: "SPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300695] synonym: "X-linked scapuloperoneal syndrome" EXACT [Orphanet:431272] synonym: "X-linked SPMD" EXACT [Orphanet:431272] +xref: GARD:7608 {source="Orphanet:431272"} xref: ICD10CM:G71.0 {source="Orphanet:431272/attributed", source="Orphanet:431272/ntbt", source="Orphanet:431272"} xref: OMIM:300695 {source="Orphanet:431272/e", source="MONDO:equivalentTo", source="Orphanet:431272"} xref: Orphanet:431272 {source="MONDO:equivalentTo"} @@ -202593,6 +206288,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010401 name: X-linked myopathy with postural muscle atrophy def: "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." [Orphanet:178461] +subset: gard_rare {source="GARD:17081"} subset: ordo_disease {source="Orphanet:178461"} synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:300696, OMIM:genemap2] synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [OMIM:300696] @@ -202601,6 +206297,7 @@ synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" synonym: "X-linked myopathy with postural muscle atrophy" EXACT CLINGEN_PREFERRED [] synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461] xref: DOID:0070251 {source="MONDO:equivalentTo"} +xref: GARD:17081 {source="Orphanet:178461"} xref: ICD10CM:G71.0 {source="Orphanet:178461/attributed", source="Orphanet:178461/ntbt", source="Orphanet:178461"} xref: OMIM:300696 {source="Orphanet:178461/e", source="MONDO:equivalentTo", source="Orphanet:178461"} xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"} @@ -202652,7 +206349,7 @@ id: MONDO:0010403 name: albinism-hearing loss syndrome def: "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." [Orphanet:998] comment: Editor note: check whether precisely identicial to Woolf syndrome -subset: gard_rare {source="GARD:0000589"} +subset: gard_rare {source="GARD:589"} subset: ordo_malformation_syndrome {source="Orphanet:998"} synonym: "ADFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300700] synonym: "albinism deafness syndrome" NARROW [GARD:0000589] @@ -202661,6 +206358,7 @@ synonym: "ALDS" RELATED ABBREVIATION [OMIM:300700] synonym: "Woolf syndrome" RELATED [Wikipedia:Albinism-deafness_syndrome] synonym: "Woolf's syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] synonym: "Ziprkowski–Margolis syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] +xref: GARD:589 {source="Orphanet:998"} xref: ICD10CM:H90.5 {source="Orphanet:998/attributed", source="Orphanet:998/ntbt", source="Orphanet:998"} xref: MESH:C537042 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} xref: OMIM:300700 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} @@ -202679,12 +206377,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/589/albinism id: MONDO:0010404 name: X-linked non progressive cerebellar ataxia def: "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." [Orphanet:314978] +subset: gard_rare {source="GARD:17439"} subset: ordo_disease {source="Orphanet:314978"} synonym: "SCAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300703, Orphanet:314978] synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703] synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [OMIM:300703, OMIM:genemap2] synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978] xref: DOID:0111833 {source="MONDO:equivalentTo"} +xref: GARD:17439 {source="Orphanet:314978"} xref: ICD10CM:G11.0 {source="Orphanet:314978", source="Orphanet:314978/attributed", source="Orphanet:314978/ntbt"} xref: MESH:C567478 {source="MONDO:equivalentTo"} xref: OMIM:300703 {source="MONDO:equivalentTo", source="Orphanet:314978", source="Orphanet:314978/e"} @@ -202698,8 +206398,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010405 name: prostate cancer, hereditary, X-linked 2 +subset: gard_rare {source="GARD:15260"} synonym: "HPCX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300704] synonym: "prostate cancer, hereditary, X-linked 2" EXACT [MONDO:Lexical, OMIM:300704] +xref: GARD:15260 {source="OMIM:300704"} xref: MESH:C567477 {source="MONDO:equivalentTo"} xref: OMIM:300704 {source="MONDO:equivalentTo"} xref: UMLS:C2678047 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300704"} @@ -202710,6 +206412,7 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0010406 name: chromosome Xp11.22 duplication syndrome +subset: gard_rare {source="GARD:22683"} synonym: "chromosome Xp11.22 duplication syndrome" EXACT [OMIM:300705] synonym: "intellectual disability, X-linked 17" RELATED [OMIM:300705] synonym: "intellectual disability, X-linked 31" RELATED [OMIM:300705] @@ -202719,6 +206422,7 @@ synonym: "Xp11.22 microduplication syndrome" EXACT [OMIM:300705, OMIM:genemap2] synonym: "Xp11.22-linked intellectual disability" EXACT [DECIPHER:90] xref: DECIPHER:90 {source="MONDO:equivalentTo"} xref: DOID:0112037 {source="MONDO:equivalentTo"} +xref: GARD:22683 {source="OMIM:300705"} xref: OMIM:300705 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300705"} xref: UMLS:C0796223 {source="OMIM:300705", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -202731,7 +206435,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010407 name: intellectual disability, X-linked syndromic, Turner type def: "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." [Orphanet:85328] -subset: gard_rare {source="GARD:0005610"} +subset: gard_rare {source="GARD:81"} subset: ordo_disease {source="Orphanet:3056"} subset: ordo_malformation_syndrome {source="Orphanet:85328"} synonym: "Brooks Wisniewski Brown syndrome" EXACT [GARD:0005610] @@ -202751,6 +206455,7 @@ synonym: "X-linked intellectual disability, Turner type" EXACT [Orphanet:85328] synonym: "X-linked mental retardation Brooks type" RELATED DEPRECATED [GARD:0005610] xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: DOID:0060829 {source="MONDO:equivalentObsolete"} +xref: GARD:81 {source="OMIM:309590"} xref: ICD10CM:Q87.8 {source="DOID:0060829", source="Orphanet:3056", source="Orphanet:3056/attributed", source="Orphanet:3056/ntbt", source="Orphanet:85328", source="Orphanet:85328/attributed", source="Orphanet:85328/ntbt"} xref: MESH:C563154 {source="MONDO:equivalentTo"} xref: MESH:C567476 {source="MONDO:equivalentTo"} @@ -202774,6 +206479,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010408 name: syndactyly-telecanthus-anogenital and renal malformations syndrome def: "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." [Orphanet:140952] +subset: gard_rare {source="GARD:10295"} subset: ordo_malformation_syndrome {source="Orphanet:140952"} synonym: "STAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300707] synonym: "STAR syndrome" EXACT [Orphanet:140952] @@ -202785,6 +206491,7 @@ synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EX synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707] synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] xref: DOID:0111931 {source="MONDO:equivalentTo"} +xref: GARD:10295 {source="Orphanet:140952"} xref: ICD10CM:Q87.8 {source="Orphanet:140952", source="Orphanet:140952/attributed", source="Orphanet:140952/ntbt"} xref: MESH:C567475 {source="MONDO:equivalentTo"} xref: OMIM:300707 {source="Orphanet:140952/e", source="MONDO:equivalentTo", source="Orphanet:140952"} @@ -202805,12 +206512,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010409 name: syndromic X-linked intellectual disability Shrimpton type def: "X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome." [Orphanet:85324] +subset: gard_rare {source="GARD:16751"} subset: ordo_malformation_syndrome {source="Orphanet:85324"} synonym: "intellectual disability, X-linked, syndromic 9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709] synonym: "mental retardation, X-linked, syndromic 9" EXACT DEPRECATED [DOID:0060813, MONDO:Lexical, OMIM:300709] synonym: "MRXS9" EXACT ABBREVIATION [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324] synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324] xref: DOID:0060813 {source="MONDO:equivalentTo"} +xref: GARD:16751 {source="Orphanet:85324"} xref: ICD10CM:Q87.8 {source="Orphanet:85324/attributed", source="Orphanet:85324/ntbt", source="Orphanet:85324", source="DOID:0060813"} xref: MESH:C567474 {source="MONDO:equivalentTo"} xref: OMIM:300709 {source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813", source="Orphanet:85324/e"} @@ -202848,9 +206557,11 @@ property_value: confidence "3.8773052888279222" xsd:double id: MONDO:0010412 name: X-linked intellectual disability-craniofacioskeletal syndrome def: "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." [Orphanet:163979] +subset: gard_rare {source="GARD:17009"} subset: ordo_disease {source="Orphanet:163979"} synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712] synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300712, OMIM:genemap2] +xref: GARD:17009 {source="Orphanet:163979"} xref: ICD10CM:Q87.8 {source="Orphanet:163979/attributed", source="Orphanet:163979/ntbt", source="Orphanet:163979"} xref: MESH:C567471 {source="MONDO:equivalentTo"} xref: OMIM:300712 {source="Orphanet:163979/e", source="MONDO:equivalentTo", source="Orphanet:163979"} @@ -202864,10 +206575,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010413 name: intellectual disability, X-linked 95 +subset: gard_rare {source="GARD:22684"} synonym: "intellectual disability, X-linked 95" EXACT [MONDO:Lexical, OMIM:300716] synonym: "mental retardation, X-linked 95" RELATED DEPRECATED [MONDO:Lexical, OMIM:300716] synonym: "mental retardation, X-linked 95, X-linked dominant" EXACT [OMIM:300716, OMIM:genemap2] synonym: "MRX95" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300716] +xref: GARD:22684 {source="OMIM:300716"} xref: MESH:C567470 {source="MONDO:equivalentTo"} xref: OMIM:300716 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300716"} @@ -202879,10 +206592,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010414 name: myopathy, reducing body, X-linked, early-onset, severe +subset: gard_rare {source="GARD:15261"} synonym: "myopathy, reducing body, X-linked, early-onset, severe" EXACT [OMIM:300717] synonym: "RBMX1A" RELATED ABBREVIATION [OMIM:300717] synonym: "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" EXACT [OMIM:300717, OMIM:genemap2] synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" RELATED [OMIM:300717] +xref: GARD:15261 {source="OMIM:300717"} xref: MESH:C567469 {source="MONDO:equivalentTo"} xref: OMIM:300717 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="OMIM:300717"} @@ -202895,10 +206610,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010415 name: myopathy, reducing body, X-linked, childhood-onset +subset: gard_rare {source="GARD:15262"} synonym: "myopathy, reducing body, X-linked, childhood-onset" EXACT [OMIM:300718] synonym: "RBMX1B" RELATED ABBREVIATION [OMIM:300718] synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset" RELATED [OMIM:300718] xref: DOID:0080687 {source="MONDO:equivalentTo"} +xref: GARD:15262 {source="OMIM:300718"} xref: MESH:C567468 {source="MONDO:equivalentTo"} xref: OMIM:300718 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="OMIM:300718"} @@ -202922,6 +206639,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010417 name: syndromic X-linked intellectual disability Najm type def: "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." [Orphanet:163937] +subset: gard_rare {source="GARD:12669"} subset: ordo_disease {source="Orphanet:163937"} synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" EXACT [OMIM:300749, OMIM:genemap2] synonym: "intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical, OMIM:300749] @@ -202938,6 +206656,7 @@ synonym: "X-linked intellectual disability - microcephaly - pontocerebellar hypo synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937] xref: DOID:0060807 {source="MONDO:equivalentTo"} +xref: GARD:12669 {source="Orphanet:163937"} xref: ICD10CM:Q04.3 {source="Orphanet:163937", source="DOID:0060807", source="Orphanet:163937/attributed", source="Orphanet:163937/ntbt"} xref: MESH:C567466 {source="MONDO:equivalentTo"} xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="MONDO:equivalentTo", source="Orphanet:163937/e"} @@ -202957,6 +206676,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010418 name: hereditary spastic paraplegia 34 def: "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." [Orphanet:171607] +subset: gard_rare {source="GARD:17063"} subset: ordo_disease {source="Orphanet:171607"} synonym: "hereditary spastic paraplegia type 34" EXACT [DOID:0110785, MONDORULE:2] synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical, OMIM:300750] @@ -202965,6 +206685,7 @@ synonym: "SPG34" EXACT ABBREVIATION [DOID:0110785, MONDO:Lexical, OMIM:300750, O synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785] synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785] xref: DOID:0110785 {source="MONDO:equivalentTo"} +xref: GARD:17063 {source="Orphanet:171607"} xref: ICD10CM:G11.4 {source="Orphanet:171607/attributed", source="Orphanet:171607/ntbt", source="Orphanet:171607", source="DOID:0110785"} xref: MESH:C567465 {source="MONDO:equivalentTo"} xref: OMIM:300750 {source="Orphanet:171607", source="MONDO:equivalentTo", source="Orphanet:171607/e", source="DOID:0110785"} @@ -202989,6 +206710,7 @@ replaced_by: MONDO:0020721 id: MONDO:0010420 name: X-linked erythropoietic protoporphyria def: "X-linked form of erythropoietic protoporphyria." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:17755"} subset: ordo_disease {source="Orphanet:443197"} synonym: "Erythrohepatic protoporphyria, X-linked" RELATED [OMIM:300752] synonym: "erythropoietic protoporphyria, X-linked" EXACT [MONDO:patterns/x_linked] @@ -203000,6 +206722,7 @@ synonym: "XLDPP" EXACT ABBREVIATION [Orphanet:443197] synonym: "XLEPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300752] synonym: "XLP" EXACT ABBREVIATION [Orphanet:443197] synonym: "XLPP" EXACT ABBREVIATION [Orphanet:443197] +xref: GARD:17755 {source="Orphanet:443197"} xref: ICD10CM:E80.0 {source="Orphanet:443197/attributed", source="Orphanet:443197/ntbt", source="Orphanet:443197"} xref: MESH:C567464 {source="MONDO:equivalentTo"} xref: OMIM:300752 {source="Orphanet:443197/e", source="MONDO:equivalentTo", source="Orphanet:443197"} @@ -203016,6 +206739,7 @@ property_value: confidence "0.045454545454545414" xsd:double id: MONDO:0010421 name: Bruton-type agammaglobulinemia def: "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." [Orphanet:47] +subset: gard_rare {source="GARD:1033"} subset: ordo_clinical_subtype {source="Orphanet:47"} synonym: "agammaglobulinemia, Bruton tyrosine kinase" RELATED [GARD:0001033] synonym: "agammaglobulinemia, BTK" RELATED [GARD:0001033] @@ -203037,6 +206761,7 @@ synonym: "immunodeficiency 1" RELATED [OMIM:300755] synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822] synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300755] xref: DOID:14179 {source="MONDO:equivalentTo"} +xref: GARD:1033 {source="Orphanet:47"} xref: ICD10CM:D80.0 {source="Orphanet:47/ntbt", source="Orphanet:47/inclusion", source="Orphanet:47"} xref: MedDRA:10060360 {source="Orphanet:47", source="Orphanet:47/e"} xref: MESH:C537409 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"} @@ -203074,9 +206799,11 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0010423 name: hypospadias 2, X-linked +subset: gard_rare {source="GARD:18186"} synonym: "hypospadias 2, X-linked" EXACT [MONDO:Lexical, OMIM:300758] synonym: "hypospadias 2, X-linked, X-linked recessive" EXACT [OMIM:300758, OMIM:genemap2] synonym: "HYSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300758] +xref: GARD:18186 {source="OMIM:300758"} xref: MESH:C567462 {source="MONDO:equivalentTo"} xref: OMIM:300758 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:300758"} @@ -203089,12 +206816,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010424 name: surfactant metabolism dysfunction, pulmonary, 4 +subset: gard_rare {source="GARD:15263"} synonym: "Csf2Ra deficiency" RELATED [OMIM:300770] synonym: "Pap due to Csf2Ra deficiency" RELATED [OMIM:300770] synonym: "pulmonary alveolar proteinosis, congenital, 4" RELATED [OMIM:300770] synonym: "SMDP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300770] synonym: "surfactant metabolism dysfunction, pulmonary, 4" EXACT [MONDO:Lexical, OMIM:300770] synonym: "surfactant metabolism dysfunction, pulmonary, type 4" EXACT [MONDORULE:1, OMIM:300770] +xref: GARD:15263 {source="OMIM:300770"} xref: MESH:C567461 {source="MONDO:equivalentTo"} xref: OMIM:300770 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="OMIM:300770"} @@ -203106,6 +206835,7 @@ property_value: confidence "0.025156250000000213" xsd:double id: MONDO:0010425 name: Lisch epithelial corneal dystrophy def: "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." [Orphanet:98955] +subset: gard_rare {source="GARD:16877"} subset: ordo_disease {source="Orphanet:98955"} synonym: "band-shaped and whorled microcystic" EXACT [DOID:0060450] synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [OMIM:300778] @@ -203115,6 +206845,7 @@ synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [OMIM:30 synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955] synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778] xref: DOID:0060450 {source="MONDO:equivalentTo"} +xref: GARD:16877 {source="Orphanet:98955"} xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="Orphanet:98955/attributed", source="Orphanet:98955/ntbt"} xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo"} xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentTo", source="Orphanet:98955", source="Orphanet:98955/e"} @@ -203130,12 +206861,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010426 name: X-linked endothelial corneal dystrophy def: "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." [Orphanet:293621] +subset: gard_rare {source="GARD:17339"} subset: ordo_disease {source="Orphanet:293621"} synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical, OMIM:300779] synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [OMIM:300779, OMIM:genemap2] synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779] synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621] xref: DOID:0060446 {source="MONDO:equivalentTo"} +xref: GARD:17339 {source="Orphanet:293621"} xref: ICD10CM:H18.5 {source="DOID:0060446", source="Orphanet:293621", source="Orphanet:293621/attributed", source="Orphanet:293621/ntbt"} xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo"} xref: OMIM:300779 {source="Orphanet:293621/e", source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621"} @@ -203151,6 +206884,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010427 name: syndromic X-linked intellectual disability Raymond type def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." [DOID:0060824, PMID:17436253, PMID:19377476] +subset: gard_rare {source="GARD:15264"} synonym: "intellectual disability, X-linked syndromic, Raymond type" EXACT [DOID:0060824] synonym: "intellectual disability, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical, OMIM:300799] synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT DEPRECATED [DOID:0060824] @@ -203158,6 +206892,7 @@ synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED DEPRECA synonym: "MRXSR" EXACT ABBREVIATION [DOID:0060824, MONDO:Lexical, OMIM:300799] synonym: "syndromic X-linked intellectual disability Raymond type" EXACT CLINGEN_PREFERRED [] xref: DOID:0060824 {source="MONDO:equivalentTo"} +xref: GARD:15264 {source="OMIM:300799"} xref: ICD10CM:Q87.8 {source="DOID:0060824"} xref: OMIM:300799 {source="MONDO:equivalentTo", source="DOID:0060824"} xref: Orphanet:163953 {source="DOID:0060824", source="OMIM:300799"} @@ -203171,6 +206906,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010428 name: chromosome Xp11.23-p11.22 duplication syndrome def: "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." [Orphanet:217377] +subset: gard_rare {source="GARD:12766"} subset: ordo_malformation_syndrome {source="Orphanet:217377"} synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [OMIM:300801] synonym: "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" EXACT [OMIM:300801, OMIM:genemap2] @@ -203179,6 +206915,7 @@ synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377] synonym: "Xp11.22-p11.23 Microduplication" EXACT [DECIPHER:89] xref: DECIPHER:89 {source="MONDO:equivalentTo"} xref: DOID:0060461 {source="MONDO:equivalentTo"} +xref: GARD:12766 {source="Orphanet:217377"} xref: ICD10CM:Q99.8 {source="DOID:0060461", source="Orphanet:217377/attributed", source="Orphanet:217377/ntbt", source="Orphanet:217377"} xref: MESH:C567585 {source="MONDO:equivalentTo"} xref: OMIM:300801 {source="DOID:0060461", source="Orphanet:217377/e", source="MONDO:equivalentTo", source="Orphanet:217377"} @@ -203201,6 +206938,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010429 name: intellectual disability, X-linked 96 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22685"} synonym: "intellectual developmental disorder, X-linked 96, X-linked recessive" EXACT [OMIM:300802, OMIM:genemap2] synonym: "intellectual disability, X-linked 96" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300802] synonym: "intellectual disability, X-linked type 96" EXACT [MONDORULE:2, OMIM:300802] @@ -203210,6 +206948,7 @@ synonym: "MRX96" RELATED DEPRECATED [MONDO:Lexical, OMIM:300802] synonym: "non-syndromic X-linked intellectual disability caused by mutation in SYP" EXACT [MONDO:design_pattern] synonym: "SYP non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112035 {source="MONDO:equivalentTo"} +xref: GARD:22685 {source="OMIM:300802"} xref: OMIM:300802 {source="MONDO:equivalentTo"} xref: UMLS:C2749021 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3275408 {source="MONDO:equivalentTo", source="OMIM:300802"} @@ -203224,6 +206963,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010430 name: intellectual disability, X-linked 97 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22686"} synonym: "intellectual developmental disorder, X-linked 97" EXACT [OMIM:300803, OMIM:genemap2] synonym: "intellectual disability, X-linked 65" RELATED [OMIM:300803] synonym: "intellectual disability, X-linked 97" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300803] @@ -203236,6 +206976,7 @@ synonym: "Mrxz" RELATED [OMIM:300803] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" EXACT [MONDO:design_pattern] synonym: "ZNF711 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112046 {source="MONDO:equivalentTo"} +xref: GARD:22686 {source="OMIM:300803"} xref: MESH:C567583 {source="MONDO:equivalentTo"} xref: OMIM:300803 {source="MONDO:equivalentTo"} xref: UMLS:C2749020 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300803"} @@ -203250,6 +206991,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010431 name: Joubert syndrome 10 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15265"} synonym: "JBTS10" EXACT ABBREVIATION [DOID:0110981, MONDO:Lexical, OMIM:300804] synonym: "Joubert syndrome 10" EXACT [MONDO:Lexical, OMIM:300804] synonym: "Joubert syndrome 10, X-linked recessive" EXACT [OMIM:300804, OMIM:genemap2] @@ -203257,6 +206999,7 @@ synonym: "Joubert syndrome caused by mutation in OFD1" EXACT [MONDO:design_patte synonym: "Joubert syndrome type 10" EXACT [DOID:0110981, MONDORULE:2, OMIM:300804] synonym: "OFD1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110981 {source="MONDO:equivalentTo"} +xref: GARD:15265 {source="OMIM:300804"} xref: MESH:C567582 {source="MONDO:equivalentTo"} xref: OMIM:300804 {source="MONDO:equivalentTo", source="DOID:0110981"} xref: Orphanet:2754 {source="OMIM:300804"} @@ -203305,6 +207048,7 @@ id: MONDO:0010434 name: synovial sarcoma def: "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." [Orphanet:3273] comment: Synovial sarcomas are not necessarily of synovial origin. +subset: gard_rare {source="GARD:7721"} subset: ordo_disease {source="Orphanet:3273"} synonym: "sarcoma, synovial" RELATED [OMIM:300813] synonym: "sarcoma, synovial, malignant" EXACT [NCIT:C3400] @@ -203316,6 +207060,7 @@ synonym: "synovial sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C3400 synonym: "Synovialosarcoma" EXACT [Orphanet:3273] xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"} xref: EFO:0001376 {source="MONDO:equivalentTo"} +xref: GARD:7721 {source="Orphanet:3273"} xref: HP:0012570 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:3273/ntbt", source="Orphanet:3273"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -203354,7 +207099,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010436 name: chromosome Xq28 duplication syndrome +subset: gard_rare {source="GARD:15266"} synonym: "chromosome Xq28 duplication syndrome" EXACT [OMIM:300815] +xref: GARD:15266 {source="OMIM:300815"} xref: MESH:C567580 {source="MONDO:equivalentTo"} xref: OMIM:300815 {source="MONDO:equivalentTo"} xref: Orphanet:1762 {source="OMIM:300815"} @@ -203370,6 +207117,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010437 name: severe X-linked mitochondrial encephalomyopathy def: "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." [Orphanet:238329] +subset: gard_rare {source="GARD:17171"} subset: ordo_disease {source="Orphanet:238329"} synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical, OMIM:300816] synonym: "combined oxidative phosphorylation deficiency 6, X-linked recessive" EXACT [OMIM:300816, OMIM:genemap2] @@ -203379,6 +207127,7 @@ synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816] synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329] synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329] xref: DOID:0111502 {source="MONDO:equivalentTo"} +xref: GARD:17171 {source="Orphanet:238329"} xref: ICD10CM:G31.8 {source="Orphanet:238329/attributed", source="Orphanet:238329/ntbt", source="Orphanet:238329"} xref: OMIM:300816 {source="Orphanet:238329", source="MONDO:equivalentTo", source="Orphanet:238329/e"} xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"} @@ -203415,7 +207164,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010439 name: cardiomyopathy, fatal fetal, due to myocardial calcification -subset: gard_rare {source="GARD:0008311"} synonym: "cardiomyopathy, fatal fetal, due to myocardial calcification" EXACT [OMIM:300829] synonym: "myocardial calcifications resulting in intrauterine fetal death" RELATED [GARD:0008311] synonym: "myocardial calcifications resulting in intrauterine foetal death" RELATED OMO:0003005 [] @@ -203429,7 +207177,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8311/cardiom [Term] id: MONDO:0010440 name: autism, susceptibility to, X-linked 4 -subset: gard_rare {source="GARD:0003775"} subset: predisposition synonym: "autism, susceptibility to, X-linked 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300830] synonym: "autism, susceptibility to, X-linked 4, X-linked recessive" EXACT [OMIM:300830, OMIM:genemap2] @@ -203451,6 +207198,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3775/x-linke [Term] id: MONDO:0010441 name: CK syndrome +subset: gard_rare {source="GARD:17210"} subset: ordo_malformation_syndrome {source="Orphanet:251383"} synonym: "CK syndrome" EXACT CLINGEN_PREFERRED [OMIM:300831] synonym: "CK syndrome, X-linked recessive" EXACT [OMIM:300831, OMIM:genemap2] @@ -203458,6 +207206,7 @@ synonym: "intellectual disability, X-linked, with thin body habitus and cortical synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [OMIM:300831] synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383] xref: DOID:0111898 {source="MONDO:equivalentTo"} +xref: GARD:17210 {source="Orphanet:251383"} xref: OMIM:300831 {source="Orphanet:251383", source="MONDO:equivalentTo", source="Orphanet:251383/e"} xref: Orphanet:251383 {source="MONDO:equivalentTo", source="OMIM:300831"} xref: UMLS:C3151781 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300831"} @@ -203472,6 +207221,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010442 name: 46,XX sex reversal 3 +subset: gard_rare {source="GARD:15267"} synonym: "46,XX SEX reversal 3" RELATED [OMIM:300833] synonym: "46,XX sex reversal 3" EXACT [MONDO:Lexical, OMIM:300833] synonym: "46,XX Sex reversal type 3" EXACT [MONDORULE:1, OMIM:300833] @@ -203481,6 +207231,7 @@ synonym: "chromosome Xq26 deletion syndrome" RELATED [OMIM:300833] synonym: "chromosome Xq26 Duplication syndrome" RELATED [OMIM:300833] synonym: "SRXX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300833] xref: DOID:0111762 {source="MONDO:equivalentTo"} +xref: GARD:15267 {source="OMIM:300833"} xref: OMIM:300833 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:300833"} xref: UMLS:C3151782 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300833"} @@ -203492,9 +207243,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010443 name: macular degeneration, X-linked atrophic +subset: gard_rare {source="GARD:15268"} synonym: "macular degeneration, X-linked atrophic" EXACT [OMIM:300834] synonym: "macular degeneration, X-linked atrophic, X-linked recessive" EXACT [OMIM:300834, OMIM:genemap2] xref: DOID:0112157 {source="MONDO:equivalentTo"} +xref: GARD:15268 {source="OMIM:300834"} xref: OMIM:300834 {source="MONDO:equivalentTo"} xref: UMLS:C3151784 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300834"} is_a: MONDO:0015993 ! cone-rod dystrophy @@ -203505,11 +207258,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010444 name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +subset: gard_rare {source="GARD:17574"} subset: ordo_disease {source="Orphanet:363727"} synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835] synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [OMIM:300835, OMIM:genemap2] synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300835] xref: DOID:0112156 {source="MONDO:equivalentTo"} +xref: GARD:17574 {source="Orphanet:363727"} xref: ICD10CM:D64.4 {source="Orphanet:363727/attributed", source="Orphanet:363727/ntbt", source="Orphanet:363727"} xref: OMIM:300835 {source="Orphanet:363727/e", source="MONDO:equivalentTo", source="Orphanet:363727"} xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"} @@ -203531,12 +207286,14 @@ replaced_by: MONDO:0018945 id: MONDO:0010446 name: X-linked cone dysfunction syndrome with myopia def: "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." [Orphanet:90001] +subset: gard_rare {source="GARD:16782"} subset: ordo_disease {source="Orphanet:90001"} synonym: "bed" RELATED [MONDO:Lexical, OMIM:300843] synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843] synonym: "Bornholm eye disease" EXACT [Orphanet:90001] synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:genemap2] synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843] +xref: GARD:16782 {source="Orphanet:90001"} xref: ICD10CM:H53.8 {source="Orphanet:90001", source="Orphanet:90001/attributed", source="Orphanet:90001/ntbt"} xref: MESH:C564092 {source="MONDO:equivalentTo"} xref: OMIM:300843 {source="MONDO:equivalentTo", source="Orphanet:90001", source="Orphanet:90001/e"} @@ -203551,6 +207308,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010447 name: intellectual disability, X-linked 19 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22687"} synonym: "intellectual developmental disorder, X-linked 19, X-linked dominant" EXACT [OMIM:300844, OMIM:genemap2] synonym: "intellectual disability, X-linked 19" EXACT [MONDO:Lexical, OMIM:300844] synonym: "intellectual disability, X-linked type 19" EXACT [MONDORULE:2, OMIM:300844] @@ -203560,6 +207318,7 @@ synonym: "MRX19" RELATED DEPRECATED [MONDO:Lexical, OMIM:300844] synonym: "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" EXACT [MONDO:design_pattern] synonym: "RPS6KA3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112019 {source="MONDO:equivalentTo"} +xref: GARD:22687 {source="OMIM:300844"} xref: MESH:C563141 {source="MONDO:equivalentTo"} xref: OMIM:300844 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300844"} @@ -203575,6 +207334,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010448 name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome def: "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." [Orphanet:280679] +subset: gard_rare {source="GARD:17301"} subset: ordo_disease {source="Orphanet:280679"} synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845] synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845] @@ -203582,6 +207342,7 @@ synonym: "moyamoya disease 4, X-linked recessive" EXACT [OMIM:300845, OMIM:genem synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679] synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845] synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] +xref: GARD:17301 {source="Orphanet:280679"} xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="Orphanet:280679/e"} xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"} xref: UMLS:C3151857 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300845"} @@ -203613,11 +207374,13 @@ property_value: confidence "3.0" xsd:double [Term] id: MONDO:0010450 name: intellectual disability, X-linked 89 +subset: gard_rare {source="GARD:22688"} synonym: "intellectual disability, X-linked 89" EXACT [MONDO:Lexical, OMIM:300848] synonym: "mental retardation, X-linked 89" RELATED DEPRECATED [MONDO:Lexical, OMIM:300848] synonym: "mental retardation, X-linked 89, X-linked dominant" EXACT [OMIM:300848, OMIM:genemap2] synonym: "MRX89" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300848] xref: DOID:0112031 {source="MONDO:equivalentTo"} +xref: GARD:22688 {source="OMIM:300848"} xref: MESH:C564036 {source="MONDO:equivalentTo"} xref: OMIM:300848 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300848"} @@ -203630,6 +207393,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010451 name: intellectual disability, X-linked 41 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22689"} synonym: "GDI1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 41, X-linked dominant" EXACT [OMIM:300849, OMIM:genemap2] synonym: "intellectual disability, X-linked 41" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300849] @@ -203641,6 +207405,7 @@ synonym: "mental retardation, X-linked type 41" EXACT DEPRECATED [MONDORULE:2, O synonym: "MRX41" RELATED DEPRECATED [MONDO:Lexical, OMIM:300849] synonym: "non-syndromic X-linked intellectual disability caused by mutation in GDI1" EXACT [MONDO:design_pattern] xref: DOID:0112058 {source="MONDO:equivalentTo"} +xref: GARD:22689 {source="OMIM:300849"} xref: OMIM:300849 {source="MONDO:equivalentTo"} xref: UMLS:C1415038 {source="OMIM:300849", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3887939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -203655,6 +207420,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010452 name: intellectual disability, X-linked 90 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22690"} synonym: "DLG3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 90, X-linked recessive" EXACT [OMIM:300850, OMIM:genemap2] synonym: "intellectual disability, X-linked 90" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300850] @@ -203664,6 +207430,7 @@ synonym: "mental retardation, X-linked type 90" EXACT DEPRECATED [MONDORULE:2, O synonym: "MRX90" RELATED DEPRECATED [MONDO:Lexical, OMIM:300850] synonym: "non-syndromic X-linked intellectual disability caused by mutation in DLG3" EXACT [MONDO:design_pattern] xref: DOID:0112041 {source="MONDO:equivalentTo"} +xref: GARD:22690 {source="OMIM:300850"} xref: OMIM:300850 {source="MONDO:equivalentTo"} xref: UMLS:C3275443 {source="MONDO:equivalentTo", source="OMIM:300850", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300850", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability @@ -203676,11 +207443,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010453 name: intellectual disability, X-linked 92 +subset: gard_rare {source="GARD:22691"} synonym: "intellectual disability, X-linked 92" EXACT [MONDO:Lexical, OMIM:300851] synonym: "mental retardation, X-linked 92" RELATED DEPRECATED [MONDO:Lexical, OMIM:300851] synonym: "mental retardation, X-linked 92, X-linked recessive" EXACT [OMIM:300851, OMIM:genemap2] synonym: "MRX92" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300851] xref: DOID:0112032 {source="MONDO:equivalentTo"} +xref: GARD:22691 {source="OMIM:300851"} xref: MESH:C564483 {source="MONDO:equivalentTo"} xref: OMIM:300851 {source="MONDO:equivalentTo"} xref: UMLS:C1845144 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300851"} @@ -203691,11 +207460,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010454 name: intellectual disability, X-linked 88 +subset: gard_rare {source="GARD:22692"} synonym: "intellectual disability, X-linked 88" EXACT [MONDO:Lexical, OMIM:300852] synonym: "intellectual disability, XMEN-linked 88" EXACT MISSPELLING [] synonym: "mental retardation, X-linked 88" EXACT DEPRECATED [MONDO:Lexical, OMIM:300852] synonym: "MRX88" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300852] xref: DOID:0112053 {source="MONDO:equivalentTo"} +xref: GARD:22692 {source="OMIM:300852"} xref: OMIM:300852 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300852"} xref: UMLS:C3275444 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300852"} @@ -203707,6 +207478,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010455 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia def: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." [Orphanet:317476] +subset: gard_rare {source="GARD:10907"} subset: ordo_disease {source="Orphanet:317476"} synonym: "Cid due to MAGT1 deficiency" EXACT [Orphanet:317476] synonym: "combined immunodeficiency due to MAGT1 deficiency" EXACT [Orphanet:317476] @@ -203717,6 +207489,7 @@ synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus in synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" RELATED [GARD:0010907] synonym: "XMEN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300853, Orphanet:317476] xref: DOID:0080319 {source="MONDO:equivalentTo"} +xref: GARD:10907 {source="Orphanet:317476"} xref: ICD10CM:D81.8 {source="Orphanet:317476/attributed", source="Orphanet:317476/ntbt", source="Orphanet:317476"} xref: NCIT:C126336 {source="MONDO:equivalentTo"} xref: OMIM:300853 {source="Orphanet:317476/e", source="MONDO:equivalentTo", source="Orphanet:317476"} @@ -203732,9 +207505,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010456 name: renal cell carcinoma, Xp11-associated +subset: gard_rare {source="GARD:18445"} synonym: "RCCX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300854] synonym: "renal cell carcinoma, papillary, 1" EXACT [OMIM:300854, OMIM:genemap2] synonym: "renal cell carcinoma, Xp11-associated" EXACT [MONDO:Lexical, OMIM:300854] +xref: GARD:18445 {source="OMIM:300854"} xref: OMIM:300854 {source="MONDO:equivalentTo"} xref: Orphanet:319308 {source="OMIM:300854"} xref: UMLS:C3275446 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300854"} @@ -203748,7 +207523,7 @@ id: MONDO:0010457 name: Ogden syndrome def: "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." [Orphanet:276432] comment: Editor note: check GARD -subset: gard_rare +subset: gard_rare {source="GARD:17281"} subset: ordo_malformation_syndrome {source="Orphanet:276432"} synonym: "Acetyl-CoA:arylamine n-acetyltransferase" RELATED [GARD:0000188] synonym: "arylamine n-acetyltransferase 1" RELATED [GARD:0000188] @@ -203764,6 +207539,7 @@ synonym: "premature ageing appearance-developmental delay-cardiac arrhythmia syn synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781] xref: DOID:0050781 {source="MONDO:equivalentTo"} +xref: GARD:17281 {source="Orphanet:276432"} xref: HGNC:7645 {source="GARD:0000188"} xref: MESH:C536107 {source="MONDO:equivalentTo"} xref: NCIT:C188215 {source="MONDO:equivalentTo"} @@ -203785,8 +207561,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010458 name: hypospadias 4, X-linked +subset: gard_rare {source="GARD:18187"} synonym: "hypospadias 4, X-linked, susceptibility to" RELATED [MONDO:Lexical, OMIM:300856] synonym: "HYSP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300856] +xref: GARD:18187 {source="OMIM:300856"} xref: OMIM:300856 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:300856"} xref: UMLS:C3275458 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300856"} @@ -203797,6 +207575,7 @@ property_value: confidence "0.2802926383173294" xsd:double id: MONDO:0010459 name: amyotrophic lateral sclerosis type 15 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15269"} synonym: "ALS15" EXACT ABBREVIATION [DOID:0060206, MONDO:Lexical, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857] @@ -203806,6 +207585,7 @@ synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MON synonym: "amyotrophic lateral sclerosis type 15" EXACT CLINGEN_PREFERRED [] synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060206 {source="MONDO:equivalentTo"} +xref: GARD:15269 {source="OMIM:300857"} xref: OMIM:300857 {source="MONDO:equivalentTo", source="DOID:0060206"} xref: Orphanet:803 {source="OMIM:300857"} xref: UMLS:C3275459 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300857"} @@ -203820,6 +207600,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010460 name: syndromic X-linked intellectual disability 17 def: "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." [Orphanet:289483] +subset: gard_rare {source="GARD:17326"} subset: ordo_disease {source="Orphanet:289483"} synonym: "intellectual disability, X-linked, syndromic 17" EXACT [DOID:0060803, MONDO:Lexical, OMIM:300858] synonym: "intellectual disability, X-linked, with alacrima and achalasia" RELATED [OMIM:300858] @@ -203832,6 +207613,7 @@ synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:006080 synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [DOID:0060803] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT DEPRECATED [DOID:0060803] xref: DOID:0060803 {source="MONDO:equivalentTo"} +xref: GARD:17326 {source="Orphanet:289483"} xref: OMIM:300858 {source="Orphanet:289483/e", source="MONDO:equivalentTo", source="DOID:0060803", source="Orphanet:289483"} xref: Orphanet:289483 {source="MONDO:equivalentTo", source="DOID:0060803", source="OMIM:300858"} xref: UMLS:C3275460 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300858"} @@ -203846,6 +207628,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010461 name: syndromic X-linked intellectual disability Nascimento type def: "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." [Orphanet:163956] +subset: gard_rare {source="GARD:17005"} subset: ordo_disease {source="Orphanet:163956"} synonym: "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" EXACT [OMIM:300860, OMIM:genemap2] synonym: "intellectual disability, X-linked syndromic, Nascimento-type" EXACT [DOID:0060820] @@ -203859,6 +207642,7 @@ synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT CLIN synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956] xref: DOID:0060820 {source="MONDO:equivalentTo"} +xref: GARD:17005 {source="Orphanet:163956"} xref: ICD10CM:Q87.8 {source="DOID:0060820", source="Orphanet:163956/attributed", source="Orphanet:163956/ntbt", source="Orphanet:163956"} xref: OMIM:300860 {source="Orphanet:163956/e", source="DOID:0060820", source="MONDO:equivalentTo", source="Orphanet:163956"} xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", source="OMIM:300860"} @@ -203892,11 +207676,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010463 name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type def: "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." [Orphanet:163966] +subset: gard_rare {source="GARD:17007"} subset: ordo_disease {source="Orphanet:163966"} synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863] synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [OMIM:300863, OMIM:genemap2] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966] xref: DOID:0112106 {source="MONDO:equivalentTo"} +xref: GARD:17007 {source="Orphanet:163966"} xref: ICD10CM:Q87.8 {source="Orphanet:163966/attributed", source="Orphanet:163966/ntbt", source="Orphanet:163966"} xref: OMIM:300863 {source="Orphanet:163966/e", source="MONDO:equivalentTo", source="Orphanet:163966"} xref: Orphanet:163966 {source="MONDO:equivalentTo", source="OMIM:300863"} @@ -203912,11 +207698,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010464 name: X-linked cerebral-cerebellar-coloboma syndrome syndrome def: "A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." [Orphanet:163961] +subset: gard_rare {source="GARD:17006"} subset: ordo_disease {source="Orphanet:163961"} synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864] synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [OMIM:300864, OMIM:genemap2] synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961] synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961] +xref: GARD:17006 {source="Orphanet:163961"} xref: ICD10CM:Q87.8 {source="Orphanet:163961", source="Orphanet:163961/attributed", source="Orphanet:163961/ntbt"} xref: OMIM:300864 {source="MONDO:equivalentTo", source="Orphanet:163961", source="Orphanet:163961/e"} xref: Orphanet:163961 {source="MONDO:equivalentTo", source="OMIM:300864"} @@ -203932,11 +207720,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010465 name: Kabuki syndrome 2 +subset: gard_rare {source="GARD:15270"} synonym: "KABUK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300867] synonym: "KABUKI syndrome 2" RELATED [OMIM:300867] synonym: "Kabuki syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300867] synonym: "Kabuki syndrome 2, X-linked dominant" EXACT [OMIM:300867, OMIM:genemap2] synonym: "Kabuki syndrome type 2" EXACT [MONDORULE:1, OMIM:300867] +xref: GARD:15270 {source="OMIM:300867"} xref: OMIM:300867 {source="MONDO:equivalentTo"} xref: Orphanet:2322 {source="OMIM:300867"} xref: UMLS:C3275495 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300867"} @@ -203949,6 +207739,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010466 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:12777"} subset: ordo_malformation_syndrome {source="Orphanet:300496"} synonym: "DEE20" EXACT ABBREVIATION [OMIM:300868] synonym: "developmental and epileptic encephalopathy 20" EXACT [OMIM:300868] @@ -203963,6 +207754,7 @@ synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXAC synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT [MONDO:design_pattern] synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080139 {source="MONDO:equivalentTo"} +xref: GARD:12777 {source="Orphanet:300496"} xref: ICD10CM:Q87.8 {source="Orphanet:300496", source="Orphanet:300496/attributed", source="Orphanet:300496/ntbt"} xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="Orphanet:300496/e", source="DOID:0080139"} xref: Orphanet:300496 {source="MONDO:equivalentTo", source="OMIM:300868"} @@ -203985,6 +207777,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010467 name: Xq27.3q28 duplication syndrome def: "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." [Orphanet:261483] +subset: gard_rare {source="GARD:17247"} subset: ordo_malformation_syndrome {source="Orphanet:261483"} synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [OMIM:300869] synonym: "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" EXACT [OMIM:300869, OMIM:genemap2] @@ -203992,6 +207785,7 @@ synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483] synonym: "Xq27.3-q28 microduplication syndrome" EXACT [Orphanet:261483] +xref: GARD:17247 {source="Orphanet:261483"} xref: ICD10CM:Q99.8 {source="Orphanet:261483/attributed", source="Orphanet:261483/ntbt", source="Orphanet:261483"} xref: OMIM:300869 {source="Orphanet:261483", source="MONDO:equivalentTo", source="Orphanet:261483/e"} xref: Orphanet:261483 {source="MONDO:equivalentTo", source="OMIM:300869"} @@ -204007,9 +207801,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010468 name: aneurysm, intracranial berry, 5 +subset: gard_rare {source="GARD:18321"} synonym: "aneurysm, intracranial BERRY, 5" RELATED [MONDO:Lexical, OMIM:300870] synonym: "ANIB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300870] xref: DOID:0080968 {source="MONDO:equivalentTo"} +xref: GARD:18321 {source="OMIM:300870"} xref: MESH:C563670 {source="MONDO:equivalentTo"} xref: OMIM:300870 {source="MONDO:equivalentTo"} xref: UMLS:C1835857 {source="OMIM:300870", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204048,12 +207844,14 @@ replaced_by: MONDO:0014343 [Term] id: MONDO:0010471 name: Cornelia de Lange syndrome 5 +subset: gard_rare {source="GARD:15271"} synonym: "CDLS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300882] synonym: "Cornelia DE Lange syndrome 5" RELATED [OMIM:300882] synonym: "Cornelia de Lange syndrome 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300882] synonym: "Cornelia de Lange syndrome 5, X-linked dominant" EXACT [OMIM:300882, OMIM:genemap2] synonym: "Cornelia De Lange syndrome type 5" EXACT [MONDORULE:1, OMIM:300882] xref: DOID:0080509 {source="MONDO:equivalentTo"} +xref: GARD:15271 {source="OMIM:300882"} xref: OMIM:300882 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:300882"} xref: UMLS:C3550903 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300882"} @@ -204066,6 +207864,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010472 name: developmental and epileptic encephalopathy, 36 +subset: gard_rare {source="GARD:12401"} subset: ordo_disease {source="Orphanet:324422"} synonym: "ALG13-CDG" EXACT [Orphanet:324422] synonym: "CDG Is" RELATED [OMIM:300884] @@ -204080,6 +207879,7 @@ synonym: "developmental and epileptic encephalopathy 36" EXACT [OMIM:300884, OMI synonym: "EIEE36" EXACT ABBREVIATION [OMIM:300884] synonym: "epileptic encephalopathy, early infantile, 36" EXACT [OMIM:300884] xref: DOID:0080470 {source="MONDO:equivalentTo"} +xref: GARD:12401 {source="Orphanet:324422"} xref: ICD10CM:E77.8 {source="Orphanet:324422", source="Orphanet:324422/attributed", source="Orphanet:324422/ntbt"} xref: OMIM:300884 {source="Orphanet:324422", source="Orphanet:324422/nd", source="MONDO:equivalentTo"} xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"} @@ -204100,6 +207900,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010473 name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." [DOID:0060828, PMID:22814392] +subset: gard_rare {source="GARD:17485"} subset: ordo_disease {source="Orphanet:324410"} synonym: "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" EXACT [OMIM:300886, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic 32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886] @@ -204108,6 +207909,7 @@ synonym: "mental retardation, X-linked, syndromic 32" EXACT DEPRECATED [DOID:006 synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:300886] synonym: "MRXS32" EXACT ABBREVIATION [DOID:0060828, MONDO:Lexical, OMIM:300886] xref: DOID:0060828 {source="MONDO:equivalentTo"} +xref: GARD:17485 {source="Orphanet:324410"} xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="Orphanet:324410/e", source="DOID:0060828"} xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"} xref: UMLS:C3550913 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300886"} @@ -204121,6 +207923,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010474 name: linear skin defects with multiple congenital anomalies 2 def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15272"} synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [OMIM:300887] synonym: "COX7B microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [MONDO:Lexical, OMIM:300887] @@ -204129,6 +207932,7 @@ synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [ synonym: "LSDMCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300887] synonym: "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" EXACT [MONDO:design_pattern] xref: DOID:0111877 {source="MONDO:equivalentTo"} +xref: GARD:15272 {source="OMIM:300887"} xref: OMIM:300887 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:300887"} xref: UMLS:C3550921 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300887"} @@ -204143,6 +207947,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010475 name: X-linked central congenital hypothyroidism with late-onset testicular enlargement def: "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." [NCIT:C130989] +subset: gard_rare {source="GARD:17499"} subset: ordo_disease {source="Orphanet:329235"} synonym: "central hypothyroidism and testicular enlargement" EXACT [DOID:0111140] synonym: "CHTE" EXACT ABBREVIATION [DOID:0111140, MONDO:Lexical, OMIM:300888] @@ -204154,6 +207959,7 @@ synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140] xref: DOID:0111140 {source="MONDO:equivalentTo"} +xref: GARD:17499 {source="Orphanet:329235"} xref: ICD10CM:E03.1 {source="DOID:0111140", source="Orphanet:329235/attributed", source="Orphanet:329235/ntbt", source="Orphanet:329235"} xref: NCIT:C130989 {source="MONDO:equivalentTo"} xref: OMIM:300888 {source="Orphanet:329235/e", source="DOID:0111140", source="MONDO:equivalentTo", source="Orphanet:329235"} @@ -204172,6 +207978,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010476 name: neurodegeneration with brain iron accumulation 5 def: "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." [Orphanet:329284] +subset: gard_rare {source="GARD:12570"} subset: ordo_disease {source="Orphanet:329284"} synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, OMIM:300894] synonym: "BPAN" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284] @@ -204187,6 +207994,7 @@ synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [OMIM:300894] synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110739 {source="MONDO:equivalentTo"} +xref: GARD:12570 {source="Orphanet:329284"} xref: ICD10CM:G23.0 {source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/attributed", source="Orphanet:329284/ntbt"} xref: NCIT:C175210 {source="MONDO:equivalentTo"} xref: OMIM:300894 {source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/e"} @@ -204205,6 +208013,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010477 name: blepharophimosis - intellectual disability syndrome, MKB type def: "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." [https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type] +subset: gard_rare {source="GARD:17341"} subset: ordo_malformation_syndrome {source="Orphanet:293707"} synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [OMIM:300895, Orphanet:293707] synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED DEPRECATED [OMIM:300895] @@ -204214,6 +208023,7 @@ synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:300895] synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [OMIM:300895, OMIM:genemap2] synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300895] synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707] +xref: GARD:17341 {source="Orphanet:293707"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:300895 {source="Orphanet:293707", source="MONDO:equivalentTo", source="Orphanet:293707/e"} xref: Orphanet:293707 {source="MONDO:equivalentTo", source="OMIM:300895"} @@ -204228,7 +208038,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010478 name: SLC35A2-congenital disorder of glycosylation def: "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." [Orphanet:356961] -subset: gard_rare {source="GARD:0012403"} +subset: gard_rare {source="GARD:12403"} subset: ordo_disease {source="Orphanet:356961"} subset: ordo_inheritance_inconsistent synonym: "CDG IIm" RELATED [OMIM:300896] @@ -204245,6 +208055,7 @@ synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0 synonym: "SLC35A2-CDG" EXACT ABBREVIATION [Orphanet:356961] synonym: "SLC35A2-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070265 {source="MONDO:equivalentTo"} +xref: GARD:12403 {source="Orphanet:356961"} xref: ICD10CM:E77.8 {source="Orphanet:356961/attributed", source="Orphanet:356961/ntbt", source="Orphanet:356961"} xref: OMIM:300896 {source="Orphanet:356961", source="MONDO:equivalentTo", source="Orphanet:356961/e"} xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"} @@ -204264,6 +208075,7 @@ id: MONDO:0010479 name: Charcot-Marie-Tooth disease X-linked dominant 6 def: "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." [Orphanet:352675] comment: Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 +subset: gard_rare {source="GARD:12445"} subset: ordo_disease {source="Orphanet:352675"} synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [DOID:0110207, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical, OMIM:300905] @@ -204275,6 +208087,7 @@ synonym: "CMT6X" RELATED ABBREVIATION [DOID:0110207, Orphanet:352675] synonym: "CMTX6" EXACT ABBREVIATION [DOID:0110207, MONDO:Lexical, OMIM:300905, Orphanet:352675] synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207] xref: DOID:0110207 {source="MONDO:equivalentTo"} +xref: GARD:12445 {source="Orphanet:352675"} xref: ICD10CM:G60.0 {source="DOID:0110207", source="Orphanet:352675", source="Orphanet:352675/attributed", source="Orphanet:352675/ntbt"} xref: OMIM:300905 {source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675", source="Orphanet:352675/e"} xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"} @@ -204288,6 +208101,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010480 name: anemia, nonspherocytic hemolytic, due to G6PD deficiency def: "An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." [https://www.clinicalgenome.org/affiliation/40026] +subset: gard_rare {source="GARD:6520"} subset: ordo_disease {source="Orphanet:466026"} synonym: "anemia, nonspherocytic hemolytic, due to G6PD deficiency" EXACT [OMIM:300908] synonym: "Class I G6PD deficiency" EXACT [Orphanet:466026] @@ -204297,6 +208111,7 @@ synonym: "hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] synonym: "hemolytic anemia, G6PD deficient (favism), X-linked dominant" EXACT [OMIM:300908, OMIM:genemap2] synonym: "severe hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 [] synonym: "severe hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] +xref: GARD:6520 {source="Orphanet:466026"} xref: MESH:C567533 {source="MONDO:equivalentTo"} xref: OMIM:300908 {source="MONDO:equivalentTo"} xref: Orphanet:362 {source="OMIM:300908"} @@ -204357,11 +208172,13 @@ is_a: MONDO:0019293 {source="MESH:D000799/inferred"} ! skin vascular disease id: MONDO:0010482 name: X-linked parkinsonism-spasticity syndrome def: "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." [Orphanet:363654] +subset: gard_rare {source="GARD:17567"} subset: ordo_disease {source="Orphanet:363654"} synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911] synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [OMIM:300911, OMIM:genemap2] synonym: "XPDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300911, Orphanet:363654] xref: DOID:0112105 {source="MONDO:equivalentTo"} +xref: GARD:17567 {source="Orphanet:363654"} xref: ICD10CM:G20 {source="Orphanet:363654", source="Orphanet:363654/attributed", source="Orphanet:363654/ntbt"} xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="Orphanet:363654/e"} xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"} @@ -204376,6 +208193,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010483 name: X-linked intellectual disability, Cantagrel type def: "X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." [Orphanet:85277] +subset: gard_rare {source="GARD:16743"} subset: ordo_malformation_syndrome {source="Orphanet:85277"} synonym: "intellectual developmental disorder, X-linked 98, X-linked dominant" EXACT [OMIM:300912, OMIM:genemap2] synonym: "intellectual disability, X-linked 98" RELATED [MONDO:Lexical, OMIM:300912] @@ -204384,6 +208202,7 @@ synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical, OM synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2, OMIM:300912] synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] xref: DOID:0112044 {source="MONDO:equivalentTo"} +xref: GARD:16743 {source="Orphanet:85277"} xref: ICD10CM:Q87.8 {source="Orphanet:85277", source="Orphanet:85277/attributed", source="Orphanet:85277/ntbt"} xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="Orphanet:85277/e"} xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"} @@ -204400,6 +208219,7 @@ id: MONDO:0010484 name: hearing loss, X-linked 6 def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:18097"} synonym: "COL4A6 X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deafness, X-linked 6" NARROW CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300914] synonym: "deafness, X-linked 6, X-linked recessive" NARROW [OMIM:300914, OMIM:genemap2] @@ -204407,6 +208227,7 @@ synonym: "deafness, X-linked type 6" NARROW [MONDORULE:1, OMIM:300914] synonym: "DFNX6" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300914] synonym: "X-linked nonsyndromic deafness caused by mutation in COL4A6" NARROW [MONDO:design_pattern] xref: DOID:0111740 {source="MONDO:equivalentTo"} +xref: GARD:18097 {source="OMIM:300914"} xref: OMIM:300914 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300914"} xref: UMLS:C3806737 {source="OMIM:300914", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204423,6 +208244,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010485 name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome def: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." [Orphanet:431140] +subset: gard_rare {source="GARD:17709"} subset: ordo_malformation_syndrome {source="Orphanet:431140"} synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" RELATED [OMIM:300915] synonym: "Maine microphthalmos" RELATED [OMIM:300915] @@ -204431,6 +208253,7 @@ synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical, OMIM:300915] synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2, OMIM:300915] synonym: "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" EXACT [Orphanet:431140] xref: DOID:0111811 {source="MONDO:equivalentTo"} +xref: GARD:17709 {source="Orphanet:431140"} xref: ICD10CM:Q87.0 {source="Orphanet:431140/attributed", source="Orphanet:431140/ntbt", source="Orphanet:431140"} xref: OMIM:300915 {source="Orphanet:431140/e", source="MONDO:equivalentTo", source="Orphanet:431140"} xref: Orphanet:431140 {source="OMIM:300915", source="MONDO:equivalentTo"} @@ -204444,10 +208267,12 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0010486 name: Olmsted syndrome, X-linked +subset: gard_rare {source="GARD:15273"} synonym: "Olmsted syndrome, X-linked" EXACT [OMIM:300918] synonym: "Olmsted syndrome, X-linked, X-linked recessive" EXACT [OMIM:300918, OMIM:genemap2] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" EXACT [OMIM:300918] xref: DOID:0112012 {source="MONDO:equivalentTo"} +xref: GARD:15273 {source="OMIM:300918"} xref: OMIM:300918 {source="MONDO:equivalentTo"} xref: Orphanet:659 {source="OMIM:300918"} xref: UMLS:C3806745 {source="OMIM:300918", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204460,6 +208285,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010487 name: intellectual disability, X-linked 99 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22693"} synonym: "intellectual developmental disorder, X-linked 99, X-linked recessive" EXACT [OMIM:300919, OMIM:genemap2] synonym: "intellectual disability, X-linked 99" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:300919] synonym: "intellectual disability, X-linked type 99" EXACT [MONDORULE:2, OMIM:300919] @@ -204469,6 +208295,7 @@ synonym: "MRX99" RELATED DEPRECATED [MONDO:Lexical, OMIM:300919] synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern] synonym: "USP9X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112026 {source="MONDO:equivalentTo"} +xref: GARD:22693 {source="OMIM:300919"} xref: OMIM:300919 {source="MONDO:equivalentTo"} xref: UMLS:C3806746 {source="OMIM:300919", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300919", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability @@ -204504,6 +208331,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010489 name: intellectual disability, X-linked 101 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22694"} synonym: "intellectual developmental disorder, X-linked 101, X-linked recessive" EXACT [OMIM:300928, OMIM:genemap2] synonym: "intellectual disability, X-linked 101" EXACT [MONDO:Lexical, OMIM:300928] synonym: "intellectual disability, X-linked type 101" EXACT [MONDORULE:2, OMIM:300928] @@ -204513,6 +208341,7 @@ synonym: "MID2 non-syndromic X-linked intellectual disability" EXACT [MONDO:desi synonym: "MRX101" RELATED DEPRECATED [MONDO:Lexical, OMIM:300928] synonym: "non-syndromic X-linked intellectual disability caused by mutation in MID2" EXACT [MONDO:design_pattern] xref: DOID:0112048 {source="MONDO:equivalentTo"} +xref: GARD:22694 {source="OMIM:300928"} xref: OMIM:300928 {source="MONDO:equivalentTo"} xref: UMLS:C3890168 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300928", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability @@ -204526,6 +208355,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010490 name: SSR4-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." [Orphanet:370927] +subset: gard_rare {source="GARD:12405"} subset: ordo_disease {source="Orphanet:370927"} synonym: "carbohydrate deficient glycoprotein syndrome type Iy" EXACT [Orphanet:370927] synonym: "CDG 1Y" RELATED [OMIM:300934] @@ -204541,6 +208371,7 @@ synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXA synonym: "SSR4-CDG" EXACT ABBREVIATION [Orphanet:370927] synonym: "SSR4-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080574 {source="MONDO:equivalentTo"} +xref: GARD:12405 {source="Orphanet:370927"} xref: ICD10CM:E77.8 {source="Orphanet:370927/attributed", source="Orphanet:370927/ntbt", source="Orphanet:370927"} xref: OMIM:300934 {source="Orphanet:370927", source="MONDO:equivalentTo", source="Orphanet:370927/e"} xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"} @@ -204558,6 +208389,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010491 name: X-linked acrogigantism due to Xq26 microduplication +subset: gard_rare {source="GARD:18433"} subset: ordo_etiological_subtype {source="Orphanet:448372"} synonym: "chromosome Xq26 microduplication syndrome" RELATED [OMIM:300942] synonym: "chromosome Xq26.3 DUPLICATION syndrome" RELATED [OMIM:300942] @@ -204566,6 +208398,7 @@ synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [Orphanet:44837 synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [Orphanet:448372] synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [Orphanet:448372] synonym: "X-linked acrogigantism" RELATED [OMIM:300942] +xref: GARD:18433 {source="OMIM:300942"} xref: ICD10CM:E22.0 {source="Orphanet:448372", source="Orphanet:448372/attributed", source="Orphanet:448372/ntbt"} xref: OMIM:300942 {source="MONDO:equivalentTo", source="Orphanet:448372", source="Orphanet:448372/e"} xref: Orphanet:300373 {source="OMIM:300942"} @@ -204586,6 +208419,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010492 name: pituitary adenoma, growth hormone-secreting, 2 def: "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15274"} synonym: "acromegaly due to pituitary adenoma 2" RELATED [OMIM:300943] synonym: "acromegaly, X-linked" RELATED [OMIM:300943] synonym: "GPR101 pituitary gland adenoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -204598,6 +208432,7 @@ synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical, synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1, OMIM:300943] synonym: "pituitary gland adenoma caused by mutation in GPR101" EXACT [MONDO:design_pattern] xref: DOID:0112007 {source="MONDO:equivalentTo"} +xref: GARD:15274 {source="OMIM:300943"} xref: OMIM:300943 {source="MONDO:equivalentTo"} xref: Orphanet:963 {source="OMIM:300943"} xref: UMLS:C4012409 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204613,6 +208448,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010493 name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15275"} synonym: "DBA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300946] synonym: "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anaemia caused by mutation in TSR2" EXACT OMO:0003005 [] @@ -204622,6 +208458,7 @@ synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:desig synonym: "TSR2 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111897 {source="MONDO:equivalentTo"} +xref: GARD:15275 {source="OMIM:300946"} xref: OMIM:300946 {source="MONDO:equivalentTo"} xref: UMLS:C4225422 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015253 {source="DC-OMIM:300946", source="MONDO:Redundant", source="OMIM:300946"} ! Diamond-Blackfan anemia @@ -204634,6 +208471,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010494 name: linear skin defects with multiple congenital anomalies 3 def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15276"} synonym: "linear skin defects with cardiomyopathy and Other congenital anomalies" RELATED [OMIM:300952] synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [MONDO:Lexical, OMIM:300952] synonym: "linear skin defects with multiple congenital anomalies 3, X-linked dominant" EXACT [OMIM:300952, OMIM:genemap2] @@ -204642,6 +208480,7 @@ synonym: "LSDMCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300952] synonym: "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" EXACT [MONDO:design_pattern] synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111876 {source="MONDO:equivalentTo"} +xref: GARD:15276 {source="OMIM:300952"} xref: OMIM:300952 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:300952"} xref: UMLS:C4225421 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204658,11 +208497,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010495 name: trichothiodystrophy 5, nonphotosensitive def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15277"} synonym: "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" EXACT [MONDO:design_pattern] synonym: "RNF113A nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "trichothiodystrophy 5, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:300953] synonym: "TTD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300953] xref: DOID:0111868 {source="MONDO:equivalentTo"} +xref: GARD:15277 {source="OMIM:300953"} xref: OMIM:300953 {source="MONDO:equivalentTo"} xref: UMLS:C4225420 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:300953"} ! trichothiodystrophy @@ -204675,6 +208516,7 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0010496 name: X-linked intellectual disability-short stature-overweight syndrome def: "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted." [Orphanet:457240] +subset: gard_rare {source="GARD:17800"} subset: ordo_malformation_syndrome {source="Orphanet:457240"} synonym: "intellectual developmental disorder, X-linked 12, X-linked recessive" EXACT [OMIM:300957, OMIM:genemap2] synonym: "intellectual disability, X-linked 12" RELATED [MONDO:Lexical, OMIM:300957] @@ -204685,6 +208527,7 @@ synonym: "mental retardation, X-linked 35" RELATED DEPRECATED [OMIM:300957] synonym: "mental retardation, X-linked type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:300957] synonym: "MRX12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957] xref: DOID:0112056 {source="MONDO:equivalentTo"} +xref: GARD:17800 {source="Orphanet:457240"} xref: OMIM:300957 {source="Orphanet:457240/e", source="MONDO:equivalentTo", source="Orphanet:457240"} xref: Orphanet:457240 {source="MONDO:equivalentTo"} xref: UMLS:C0796218 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204722,6 +208565,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010498 name: MEND syndrome +subset: gard_rare {source="GARD:17666"} subset: ordo_malformation_syndrome {source="Orphanet:401973"} synonym: "Male EBP disorder with neurologic defects" RELATED [OMIM:300960] synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973] @@ -204729,6 +208573,7 @@ synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome, X-linked recessive" EXACT [OMIM:300960, OMIM:genemap2] xref: DOID:0111865 {source="MONDO:equivalentTo"} +xref: GARD:17666 {source="Orphanet:401973"} xref: ICD10CM:Q87.8 {source="Orphanet:401973/attributed", source="Orphanet:401973/ntbt", source="Orphanet:401973"} xref: OMIM:300960 {source="Orphanet:401973", source="MONDO:equivalentTo", source="Orphanet:401973/e"} xref: Orphanet:401973 {source="MONDO:equivalentTo", source="OMIM:300960"} @@ -204745,6 +208590,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010499 name: Ritscher-Schinzel syndrome 2 def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15278"} synonym: "CCDC22 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Ritscher-Schinzel syndrome 2" EXACT [OMIM:300963] synonym: "Ritscher-Schinzel syndrome 2, X-linked recessive" EXACT [OMIM:300963, OMIM:genemap2] @@ -204752,6 +208598,7 @@ synonym: "Ritscher-Schinzel syndrome caused by mutation in CCDC22" EXACT [MONDO: synonym: "Ritscher-Schinzel syndrome type 2" EXACT [DOID:0060572, MONDORULE:1, OMIM:300963] synonym: "RTSC2" EXACT ABBREVIATION [OMIM:300963] xref: DOID:0060572 {source="MONDO:equivalentTo"} +xref: GARD:15278 {source="OMIM:300963"} xref: OMIM:300963 {source="DOID:0060572", source="MONDO:equivalentTo"} xref: Orphanet:7 {source="DOID:0060572"} xref: UMLS:C4225419 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -204787,6 +208634,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010501 name: syndromic X-linked intellectual disability 34 def: "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." [Orphanet:466791] +subset: gard_rare {source="GARD:17832"} subset: ordo_malformation_syndrome {source="Orphanet:466791"} synonym: "intellectual developmental disorder, X-linked syndromic 34" EXACT [OMIM:300967, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic 34" EXACT [DOID:0060817, OMIM:300967] @@ -204804,6 +208652,7 @@ synonym: "syndromic X-linked intellectual disability type 34" EXACT [DOID:006081 synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT DEPRECATED [DOID:0060817] synonym: "X-linked syndromic intellectual disability caused by mutation in NONO" EXACT [MONDO:design_pattern] xref: DOID:0060817 {source="MONDO:equivalentTo"} +xref: GARD:17832 {source="Orphanet:466791"} xref: OMIM:300967 {source="MONDO:equivalentTo", source="Orphanet:466791", source="DOID:0060817"} xref: Orphanet:466791 {source="MONDO:equivalentTo", source="DOID:0060817"} xref: UMLS:C4225417 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -204840,12 +208689,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010503 name: Bartter disease type 5 def: "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22308"} synonym: "BARTS5" EXACT ABBREVIATION [DOID:0110147, OMIM:300971] synonym: "Bartter syndrome caused by mutation in MAGED2" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [DOID:0110147, OMIM:300971] synonym: "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" EXACT [OMIM:300971, OMIM:genemap2] synonym: "MAGED2 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110147 {source="MONDO:equivalentTo"} +xref: GARD:22308 {source="Orphanet:570371"} xref: ICD10CM:E26.8 {source="Orphanet:570371", source="DOID:0110147"} xref: OMIM:300971 {source="MONDO:equivalentTo", source="DOID:0110147"} xref: Orphanet:570371 {source="MONDO:equivalentTo"} @@ -204882,6 +208733,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010505 name: intellectual disability-balding-patella luxation-acromicria syndrome def: "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." [Orphanet:3041] +subset: gard_rare {source="GARD:257"} subset: ordo_malformation_syndrome {source="Orphanet:3041"} synonym: "early balding, patella luxation, acromicria and hypogonadism" RELATED [GARD:0000257] synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [OMIM:300977] @@ -204889,6 +208741,7 @@ synonym: "SCHOLTE syndrome" RELATED [OMIM:300977] synonym: "Scholte syndrome" EXACT [OMIM:300977] synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041] synonym: "SHLTS" EXACT ABBREVIATION [OMIM:300977] +xref: GARD:257 {source="Orphanet:3041"} xref: ICD10CM:Q87.8 {source="Orphanet:3041/attributed", source="Orphanet:3041/ntbt", source="Orphanet:3041"} xref: MESH:C536638 {source="MONDO:equivalentTo"} xref: OMIM:300977 {source="Orphanet:3041/e", source="MONDO:equivalentTo", source="Orphanet:3041"} @@ -204906,6 +208759,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010506 name: intellectual disability, X-linked 61 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22695"} synonym: "intellectual disability, X-linked 61" EXACT [OMIM:300978] synonym: "intellectual disability, X-linked type 61" EXACT [MONDORULE:2, OMIM:300978] synonym: "mental retardation, X-linked 61" EXACT DEPRECATED [OMIM:300978] @@ -204915,6 +208769,7 @@ synonym: "non-syndromic X-linked intellectual disability caused by mutation in R synonym: "RLIM non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Tonne-Kalscheuer syndrome" EXACT [OMIM:300978, OMIM:genemap2] xref: DOID:0112042 {source="MONDO:equivalentTo"} +xref: GARD:22695 {source="OMIM:300978"} xref: OMIM:300978 {source="MONDO:equivalentTo"} xref: UMLS:C4283894 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300978", source="MONDO:Redundant", source="OMIM:300978"} ! non-syndromic X-linked intellectual disability @@ -204927,9 +208782,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010507 name: Xq25 microduplication syndrome +subset: gard_rare {source="GARD:17955"} subset: ordo_malformation_syndrome synonym: "Xq25 duplication syndrome" EXACT [OMIM:300979, OMIM:genemap2] synonym: "Xq25 triplication syndrome" RELATED [OMIM:300979] +xref: GARD:17955 {source="Orphanet:521258"} xref: NCIT:C177544 {source="MONDO:equivalentTo"} xref: OMIM:300979 {source="Orphanet:521258", source="MONDO:equivalentTo"} xref: Orphanet:521258 {source="MONDO:equivalentTo"} @@ -204969,6 +208826,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010509 name: intellectual disability, X-linked 104 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22696"} synonym: "FRMPD4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 104" EXACT [OMIM:300983, OMIM:genemap2] synonym: "intellectual disability, X-linked 104" EXACT [OMIM:300983] @@ -204978,6 +208836,7 @@ synonym: "mental retardation, X-linked type 104" EXACT DEPRECATED [MONDORULE:2, synonym: "MRX104" EXACT ABBREVIATION [OMIM:300983] synonym: "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" EXACT [MONDO:design_pattern] xref: DOID:0112018 {source="MONDO:equivalentTo"} +xref: GARD:22696 {source="OMIM:300983"} xref: OMIM:300983 {source="MONDO:equivalentTo"} xref: UMLS:C4310817 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300983", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability @@ -204991,6 +208850,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010510 name: intellectual disability, X-linked 105 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22697"} synonym: "intellectual developmental disorder, X-linked 105, X-linked recessive" EXACT [OMIM:300984, OMIM:genemap2] synonym: "intellectual disability, X-linked 105" EXACT [OMIM:300984] synonym: "intellectual disability, X-linked type 105" EXACT [MONDORULE:2, OMIM:300984] @@ -205000,6 +208860,7 @@ synonym: "MRX105" EXACT ABBREVIATION [OMIM:300984] synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP27X" EXACT [MONDO:design_pattern] synonym: "USP27X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112036 {source="MONDO:equivalentTo"} +xref: GARD:22697 {source="OMIM:300984"} xref: OMIM:300984 {source="MONDO:equivalentTo"} xref: UMLS:C4310816 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019181 {source="DC-OMIM:300984", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability @@ -205012,11 +208873,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010511 name: vas deferens, congenital bilateral aplasia of, X-linked +subset: gard_rare {source="GARD:15279"} synonym: "CBAVDX" EXACT ABBREVIATION [OMIM:300985] synonym: "congenital bilateral absence of vas deferens, X-linked" EXACT [OMIM:300985, OMIM:genemap2] synonym: "vas deferens, congenital bilateral aplasia of, X-linked" EXACT [OMIM:300985] synonym: "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" EXACT [] xref: DOID:0111863 {source="MONDO:equivalentTo"} +xref: GARD:15279 {source="OMIM:300985"} xref: OMIM:300985 {source="MONDO:equivalentTo"} xref: UMLS:C4310815 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018801 {source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens @@ -205049,6 +208912,7 @@ replaced_by: MONDO:0010258 [Term] id: MONDO:0010514 name: combined immunodeficiency due to moesin deficiency +subset: gard_rare {source="GARD:17939"} subset: ordo_disease synonym: "CID due to Moesin deficiency" EXACT [Orphanet:504530] synonym: "IMD50" EXACT ABBREVIATION [OMIM:300988] @@ -205058,6 +208922,7 @@ synonym: "immunodeficiency type 50" EXACT [MONDORULE:2, OMIM:300988] synonym: "MSN-related combined immunodeficiency" EXACT [Orphanet:504530] synonym: "X-linked Moesin-associated immunodeficiency" EXACT [Orphanet:504530] xref: DOID:0112001 {source="MONDO:equivalentTo"} +xref: GARD:17939 {source="Orphanet:504530"} xref: OMIM:300988 {source="MONDO:equivalentTo", source="Orphanet:504530"} xref: Orphanet:504530 {source="MONDO:equivalentTo"} xref: UMLS:C4310812 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -205102,6 +208967,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010517 name: ciliary dyskinesia, primary, 36, X-linked def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15280"} synonym: "CILD36" EXACT ABBREVIATION [OMIM:300991] synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [OMIM:300991] synonym: "ciliary dyskinesia, primary, 36, X-linked" EXACT [OMIM:300991] @@ -205110,6 +208976,7 @@ synonym: "ciliary dyskinesia, primary, 36, X-linked; CILD36" EXACT [] synonym: "PIH1D3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia caused by mutation in PIH1D3" EXACT [MONDO:design_pattern] xref: DOID:0111850 {source="MONDO:equivalentTo"} +xref: GARD:15280 {source="OMIM:300991"} xref: OMIM:300991 {source="MONDO:equivalentTo"} xref: UMLS:C4478372 {source="MONDO:equivalentTo"} xref: UMLS:CN240511 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -205123,7 +208990,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010518 name: Wiskott-Aldrich syndrome def: "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." [Orphanet:906] -subset: gard_rare {source="GARD:0007895"} +subset: gard_rare {source="GARD:7895"} subset: ordo_disease {source="Orphanet:906"} synonym: "Aldrich syndrome" RELATED [OMIM:301000] synonym: "eczema thrombocytopenia immunodeficiency syndrome" RELATED [GARD:0007895] @@ -205137,6 +209004,7 @@ synonym: "Wiskott-Aldrich syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM synonym: "Wiskott-Aldrich syndrome 1" EXACT [OMIM:301000] synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM:genemap2] xref: DOID:9169 {source="MONDO:equivalentTo"} +xref: GARD:7895 {source="Orphanet:906"} xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: ICD9:279.12 {source="DOID:9169"} xref: MedDRA:10047992 {source="Orphanet:906/e", source="Orphanet:906"} @@ -205164,7 +209032,7 @@ name: alpha thalassemia-X-linked intellectual disability syndrome def: "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." [Orphanet:847] comment: Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. subset: do_inheritance_inconsistent -subset: gard_rare {source="GARD:0005864"} +subset: gard_rare {source="GARD:5864"} subset: ordo_disease {source="Orphanet:847"} synonym: "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked" RELATED [GARD:0005864] synonym: "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked" RELATED DEPRECATED [GARD:0005864] @@ -205189,6 +209057,7 @@ synonym: "ATRX" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040] synonym: "ATRX syndrome" RELATED [GARD:0005864] synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864] xref: DOID:0110030 {source="MONDO:equivalentTo"} +xref: GARD:5864 {source="Orphanet:847"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/attributed", source="Orphanet:847/ntbt"} xref: MESH:C538258 {source="MONDO:equivalentTo"} xref: NCIT:C118631 {source="MONDO:equivalentTo"} @@ -205213,6 +209082,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5864/alpha-t id: MONDO:0010520 name: X-linked Alport syndrome def: "X-linked form of Alport syndrome." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:16774"} subset: ordo_etiological_subtype {source="Orphanet:88917"} synonym: "Alport syndrome 1, X-linked, X-linked dominant" EXACT [OMIM:301050, OMIM:genemap2] synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:301050] @@ -205223,6 +209093,7 @@ synonym: "hemorrhagic hereditary nephritis" RELATED [GARD:0005785] synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034, OMIM:301050] synonym: "X-linked Alport syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0110034 {source="MONDO:equivalentTo"} +xref: GARD:16774 {source="Orphanet:88917"} xref: ICD10CM:Q87.8 {source="Orphanet:88917", source="Orphanet:88917/attributed", source="Orphanet:88917/ntbt"} xref: MedDRA:10001843 {source="Orphanet:88917/e", source="Orphanet:88917"} xref: OMIM:301050 {source="Orphanet:88917/e", source="MONDO:equivalentTo", source="Orphanet:88917", source="DOID:0110034"} @@ -205243,7 +209114,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010521 name: amelogenesis imperfecta type 1E def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:9943"} synonym: "AI1E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301200] synonym: "AIH1" EXACT ABBREVIATION [DOID:0110058, GARD:0009943] synonym: "amelogenesis imperfecta caused by mutation in AMELX" EXACT [MONDO:design_pattern] @@ -205264,6 +209135,7 @@ synonym: "X-linked amelogenesis imperfecta 1" EXACT [DOID:0110058] synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT [DOID:0110058] synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110058] xref: DOID:0110058 {source="MONDO:equivalentTo"} +xref: GARD:9943 {source="OMIM:301200"} xref: ICD10CM:K00.5 {source="DOID:0110058"} xref: OMIM:301200 {source="GARD:0009943", source="MONDO:equivalentTo", source="DOID:0110058"} xref: Orphanet:100033 {source="OMIM:301200"} @@ -205283,6 +209155,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9943/ameloge id: MONDO:0010522 name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." [DOID:0110059, PMID:1358807] +subset: gard_rare {source="GARD:9944"} synonym: "AIH3" EXACT ABBREVIATION [DOID:0110059] synonym: "AIH3 (formerly)" RELATED [GARD:0009944] synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT DEPRECATED [DOID:0110059] @@ -205297,6 +209170,7 @@ synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301201] synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" EXACT [DOID:0110059, MONDORULE:1] synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110059] xref: DOID:0110059 {source="MONDO:equivalentTo"} +xref: GARD:9944 {source="OMIM:301201"} xref: ICD10CM:K00.5 {source="DOID:0110059"} xref: OMIM:301201 {source="MONDO:equivalentTo", source="DOID:0110059"} xref: Orphanet:100031 {source="OMIM:301201"} @@ -205310,6 +209184,7 @@ id: MONDO:0010523 name: X-linked reticulate pigmentary disorder def: "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." [Orphanet:85453] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:16756"} subset: ordo_disease {source="Orphanet:85453"} synonym: "amyloidosis, familial cutaneous" RELATED [OMIM:301220] synonym: "familial cutaneous amyloidosis" EXACT [Orphanet:85453] @@ -205321,6 +209196,7 @@ synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linke synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453] synonym: "XLPDR" EXACT ABBREVIATION [Orphanet:85453] xref: DOID:0111834 {source="MONDO:equivalentTo"} +xref: GARD:16756 {source="Orphanet:85453"} xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} xref: MESH:C564461 {source="MONDO:equivalentTo"} @@ -205342,6 +209218,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010524 name: X-linked sideroblastic anemia with ataxia def: "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." [Orphanet:2802] +subset: gard_rare {source="GARD:668"} subset: ordo_disease {source="Orphanet:2802"} synonym: "anaemia sideroblastic and spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554] @@ -205366,6 +209243,7 @@ synonym: "XLSA-A" EXACT [Orphanet:2802] synonym: "Xlsa-A" RELATED [MESH:C536358] xref: DOID:0050554 {source="MONDO:equivalentTo"} xref: DOID:0060064 {source="MONDO:equivalentObsolete"} +xref: GARD:668 {source="Orphanet:2802"} xref: ICD10CM:D64.0 {source="Orphanet:2802/attributed", source="Orphanet:2802/ntbt", source="Orphanet:2802"} xref: MESH:C536358 {source="MONDO:equivalentTo"} xref: OMIM:301310 {source="Orphanet:2802/e", source="DOID:0050554", source="MONDO:equivalentTo", source="Orphanet:2802"} @@ -205385,7 +209263,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010525 name: neural tube defects, X-linked -subset: gard_rare synonym: "anencephaly and spina bifida X-linked" RELATED [GARD:0000669] synonym: "neural tube defects, X-linked" EXACT [OMIM:301410] synonym: "spina bifida, X-linked" RELATED [OMIM:301410] @@ -205406,6 +209283,7 @@ id: MONDO:0010526 name: Fabry disease def: "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." [Orphanet:324] subset: clingen +subset: gard_rare {source="GARD:6400"} subset: ordo_disease {source="Orphanet:324"} synonym: "alpha galactosidase deficiency" EXACT [DOID:14499] synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, Orphanet:324] @@ -205422,6 +209300,7 @@ synonym: "Fd" EXACT [Orphanet:324] synonym: "Gla deficiency" RELATED [OMIM:301500] synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500] xref: DOID:14499 {source="MONDO:equivalentTo"} +xref: GARD:6400 {source="Orphanet:324"} xref: ICD10CM:E75.2 {source="Orphanet:324", source="Orphanet:324/ntbt", source="Orphanet:324/inclusion"} xref: ICD10CM:E75.21 {source="DOID:14499"} xref: MedDRA:10016016 {source="Orphanet:324", source="Orphanet:324/e"} @@ -205481,7 +209360,7 @@ property_value: IAO:0000589 "anosmia (disease)" xsd:string id: MONDO:0010529 name: X-linked spinocerebellar ataxia type 3 def: "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." [Orphanet:85297] -subset: gard_rare {source="GARD:0009981"} +subset: gard_rare {source="GARD:9981"} subset: ordo_malformation_syndrome {source="Orphanet:85297"} synonym: "ataxia-deafness syndrome X-linked" RELATED [GARD:0009981] synonym: "ataxia-deafness syndrome, X-linked" RELATED [OMIM:301790] @@ -205492,6 +209371,7 @@ synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790] synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790] synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297] xref: DOID:0111831 {source="MONDO:equivalentTo"} +xref: GARD:9981 {source="Orphanet:85297"} xref: ICD10CM:G11.1 {source="Orphanet:85297/attributed", source="Orphanet:85297/ntbt", source="Orphanet:85297"} xref: MESH:C537315 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} @@ -205513,12 +209393,14 @@ replaced_by: MONDO:0001046 id: MONDO:0010531 name: contractures-ectodermal dysplasia-cleft lip/palate syndrome def: "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." [Orphanet:1484] +subset: gard_rare {source="GARD:1515"} subset: ordo_malformation_syndrome {source="Orphanet:1484"} synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [OMIM:301815] synonym: "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment" RELATED [GARD:0001515] synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001515] synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515] synonym: "Ladda-Zonana-Ramer syndrome" EXACT [Orphanet:1484] +xref: GARD:1515 {source="Orphanet:1484"} xref: ICD10CM:Q87.8 {source="Orphanet:1484", source="Orphanet:1484/attributed", source="Orphanet:1484/ntbt"} xref: MESH:C535465 {source="Orphanet:1484", source="Orphanet:1484/e"} xref: MESH:C538135 {source="Orphanet:1484", source="Orphanet:1484/e"} @@ -205537,6 +209419,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010532 name: infantile-onset X-linked spinal muscular atrophy def: "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." [Orphanet:1145] +subset: gard_rare {source="GARD:8521"} subset: ordo_disease {source="Orphanet:1145"} synonym: "AMC, distal, X-linked" RELATED [OMIM:301830] synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [OMIM:301830] @@ -205551,6 +209434,7 @@ synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301 synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145] synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145] xref: DOID:0111827 {source="MONDO:equivalentTo"} +xref: GARD:8521 {source="Orphanet:1145"} xref: ICD10CM:G12.1 {source="Orphanet:1145", source="Orphanet:1145/attributed", source="Orphanet:1145/ntbt"} xref: MESH:C535380 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} xref: OMIM:301830 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} @@ -205569,7 +209453,7 @@ id: MONDO:0010533 name: Arts syndrome def: "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." [Orphanet:1187] subset: clingen -subset: gard_rare {source="GARD:0008756"} +subset: gard_rare {source="GARD:8756"} subset: ordo_disease {source="Orphanet:1187"} synonym: "Arts" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835] synonym: "Arts syndrome" EXACT [MONDO:Lexical, OMIM:301835, Orphanet:1187] @@ -205590,6 +209474,7 @@ synonym: "syndromic X-linked mental retardation 18" EXACT DEPRECATED [DOID:00506 synonym: "syndromic X-linked mental retardation Arts type" EXACT DEPRECATED [DOID:0050647] synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756] xref: DOID:0050647 {source="MONDO:equivalentTo"} +xref: GARD:8756 {source="Orphanet:1187"} xref: ICD10CM:E79.8 {source="Orphanet:1187", source="Orphanet:1187/attributed", source="Orphanet:1187/ntbt", source="DOID:0050647"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535388 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"} @@ -205610,7 +209495,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8756/arts-sy id: MONDO:0010534 name: X-linked spinocerebellar ataxia type 4 def: "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." [Orphanet:85292] -subset: gard_rare {source="GARD:0009980"} +subset: gard_rare {source="GARD:9980"} subset: ordo_disease {source="Orphanet:85292"} synonym: "ataxia-dementia syndrome X-linked" RELATED [GARD:0009980] synonym: "ataxia-dementia syndrome, X-linked" RELATED [OMIM:301840] @@ -205621,6 +209506,7 @@ synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840] synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840] synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292] xref: DOID:0111832 {source="MONDO:equivalentTo"} +xref: GARD:9980 {source="Orphanet:85292"} xref: ICD10CM:G11.1 {source="Orphanet:85292/attributed", source="Orphanet:85292/ntbt", source="Orphanet:85292"} xref: MESH:C537316 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} @@ -205636,6 +209522,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9980/spinoce id: MONDO:0010535 name: Bazex-Dupre-Christol syndrome def: "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." [Orphanet:113] +subset: gard_rare {source="GARD:20069", source="GARD:838"} subset: ordo_disease {source="Orphanet:166113", source="Orphanet:113"} synonym: "acrokeratosis of Bazex" EXACT [Orphanet:166113] synonym: "acrokeratosis paraneoplastica" EXACT [Orphanet:166113] @@ -205649,6 +209536,8 @@ synonym: "BZX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301845] synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, Orphanet:113] synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838] synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838] +xref: GARD:20069 {source="Orphanet:166113"} +xref: GARD:838 {source="Orphanet:113"} xref: ICD10CM:L98.8 {source="Orphanet:113/attributed", source="Orphanet:113/ntbt", source="Orphanet:113"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537663 {source="Orphanet:113/e", source="Orphanet:113"} @@ -205681,7 +209570,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010537 name: Borjeson-Forssman-Lehmann syndrome def: "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." [Orphanet:127] -subset: gard_rare {source="GARD:0000936"} +subset: gard_rare {source="GARD:936"} subset: ordo_malformation_syndrome {source="Orphanet:127"} synonym: "BFLS" EXACT ABBREVIATION [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127] synonym: "BORJ" EXACT ABBREVIATION [DOID:0050681] @@ -205702,6 +209591,7 @@ synonym: "MRXSBFL" EXACT ABBREVIATION [DOID:0050681] synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type" EXACT [DOID:0050681] synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT DEPRECATED [DOID:0050681] xref: DOID:0050681 {source="MONDO:equivalentTo"} +xref: GARD:936 {source="Orphanet:127"} xref: ICD10CM:Q87.8 {source="Orphanet:127/attributed", source="Orphanet:127/ntbt", source="Orphanet:127", source="DOID:0050681"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"} @@ -205726,7 +209616,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/936/borjeson id: MONDO:0010538 name: Mononen-Karnes-Senac syndrome def: "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." [Orphanet:2565] -subset: gard_rare +subset: gard_rare {source="GARD:4886"} subset: ordo_malformation_syndrome {source="Orphanet:2565"} synonym: "brachydactyly Mononen type" RELATED [GARD:0004886] synonym: "brachydactyly, Mononen type" RELATED [OMIM:301940] @@ -205738,6 +209628,7 @@ synonym: "skeletal dysplasia-brachydactyly syndrome" EXACT [Orphanet:2565] synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886] synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940] xref: DOID:0110973 {source="MONDO:equivalentTo"} +xref: GARD:4886 {source="Orphanet:2565"} xref: ICD10CM:Q87.5 {source="Orphanet:2565/attributed", source="Orphanet:2565/ntbt", source="DOID:0110973", source="Orphanet:2565"} xref: MESH:C535914 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} @@ -205753,6 +209644,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4886/brachyd id: MONDO:0010539 name: X-linked mandibulofacial dysostosis def: "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." [Orphanet:1131] +subset: gard_rare {source="GARD:1002"} subset: ordo_malformation_syndrome {source="Orphanet:1131"} synonym: "branchial arch syndrome X-linked" RELATED [GARD:0001002] synonym: "branchial arch syndrome, X-linked" RELATED [OMIM:301950] @@ -205762,6 +209654,7 @@ synonym: "mandibulofacial dysostosis, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "MFD Toriello type" RELATED [GARD:0001002] synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131] synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131] +xref: GARD:1002 {source="Orphanet:1131"} xref: ICD10CM:Q75.4 {source="Orphanet:1131", source="Orphanet:1131/attributed", source="Orphanet:1131/ntbt"} xref: MESH:C537102 {source="MONDO:equivalentTo"} xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="Orphanet:1131/e"} @@ -205782,13 +209675,14 @@ property_value: confidence "9.625" xsd:double id: MONDO:0010540 name: bullous dystrophy, macular type def: "A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." [Orphanet:1867] -subset: gard_rare +subset: gard_rare {source="GARD:1038"} subset: ordo_disease {source="Orphanet:1867"} synonym: "bullous dystrophy hereditary macular type" RELATED [GARD:0001038] synonym: "bullous dystrophy, hereditary macular type" RELATED [OMIM:302000] synonym: "EBM" RELATED ABBREVIATION [GARD:0001038] synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038] synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000] +xref: GARD:1038 {source="Orphanet:1867"} xref: ICD10CM:Q81.8 {source="Orphanet:1867/attributed", source="Orphanet:1867/ntbt", source="Orphanet:1867"} xref: MESH:C563065 {source="MONDO:equivalentTo"} xref: OMIM:302000 {source="Orphanet:1867/e", source="GARD:0001038", source="MONDO:equivalentTo", source="Orphanet:1867"} @@ -205803,9 +209697,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1038/bullous [Term] id: MONDO:0010541 name: X-linked calvarial hyperostosis +subset: gard_rare {source="GARD:1058"} subset: ordo_disease {source="Orphanet:391327"} synonym: "calvarial hyperostosis" RELATED [OMIM:302030] synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058] +xref: GARD:1058 {source="Orphanet:391327"} xref: ICD10CM:M85.2 {source="Orphanet:391327/attributed", source="Orphanet:391327/ntbt", source="Orphanet:391327"} xref: MESH:C537963 {source="MONDO:equivalentTo"} xref: OMIM:302030 {source="Orphanet:391327/e", source="MONDO:equivalentTo", source="Orphanet:391327"} @@ -205820,6 +209716,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0010542 name: dilated cardiomyopathy 3B def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15287"} synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical, OMIM:302045] synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045] synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045] @@ -205833,6 +209730,7 @@ synonym: "X-linked dilated cardiomyopathy" RELATED [DOID:0110461] xref: DOID:0060561 {source="MONDO:equivalentObsolete"} xref: DOID:0081164 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110461 {source="MONDO:equivalentTo"} +xref: GARD:15287 {source="OMIM:302045"} xref: ICD10CM:I42.0 {source="DOID:0110461"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580047 {source="DOID:0060561", source="MONDO:equivalentTo"} @@ -205851,7 +209749,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0010543 name: Barth syndrome def: "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." [Orphanet:111] -subset: gard_rare {source="GARD:0005890"} +subset: gard_rare {source="GARD:5890"} subset: ordo_disease {source="Orphanet:111"} synonym: "3-methylglutaconic aciduria type 2" EXACT [Orphanet:111] synonym: "3-methylglutaconic aciduria type II" RELATED [GARD:0005890] @@ -205871,6 +209769,7 @@ synonym: "MGA2" EXACT ABBREVIATION [Orphanet:111] synonym: "TAZ defect" RELATED [GARD:0005890] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111] xref: DOID:0050476 {source="MONDO:equivalentTo"} +xref: GARD:5890 {source="Orphanet:111"} xref: ICD10CM:E71.1 {source="Orphanet:111/attributed", source="Orphanet:111/ntbt", source="Orphanet:111"} xref: ICD10CM:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: MESH:D056889 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} @@ -205927,7 +209826,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0010545 name: Nance-Horan syndrome def: "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." [Orphanet:627] -subset: gard_rare {source="GARD:0007161"} +subset: gard_rare {source="GARD:7161"} subset: ordo_malformation_syndrome {source="Orphanet:627"} synonym: "cataract dental syndrome" RELATED [GARD:0007161] synonym: "cataract X-linked with Hutchinsonian teeth" RELATED [GARD:0007161] @@ -205939,6 +209838,7 @@ synonym: "Nance-Horan syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:302 synonym: "nance-horan syndrome, X-linked dominant" EXACT [OMIM:302350, OMIM:genemap2] synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350] xref: DOID:0060599 {source="MONDO:equivalentTo"} +xref: GARD:7161 {source="Orphanet:627"} xref: ICD10CM:Q87.0 {source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/attributed", source="Orphanet:627/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538336 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} @@ -205968,6 +209868,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010547 name: X-linked progressive cerebellar ataxia +subset: gard_rare {source="GARD:16558"} subset: ordo_disease {source="Orphanet:1175"} synonym: "olivopontocerebellar atrophy, X-linked" RELATED [OMIM:302500] synonym: "OPCA, X-linked" RELATED [OMIM:302500] @@ -205976,6 +209877,7 @@ synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:30250 synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [OMIM:302500, OMIM:genemap2] synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500] xref: DOID:0111829 {source="MONDO:equivalentTo"} +xref: GARD:16558 {source="Orphanet:1175"} xref: ICD10CM:G11.1 {source="Orphanet:1175", source="Orphanet:1175/attributed", source="Orphanet:1175/ntbt"} xref: MESH:C563134 {source="MONDO:equivalentTo"} xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="Orphanet:1175/e"} @@ -206005,6 +209907,7 @@ is_a: MONDO:0016612 {source="MONDO:cjm"} ! X-linked cerebellar ataxia id: MONDO:0010549 name: Charcot-Marie-Tooth disease X-linked dominant 1 def: "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." [NCIT:C129068] +subset: gard_rare {source="GARD:1258"} subset: ordo_disease {source="Orphanet:101075"} synonym: "Charcot Marie Tooth disease X-linked 1" EXACT [GARD:0001258] synonym: "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern] @@ -206029,6 +209932,7 @@ synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [OMIM:302800] synonym: "HMSN, X-linked" BROAD [OMIM:302800] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209] xref: DOID:0110209 {source="MONDO:equivalentTo"} +xref: GARD:1258 {source="Orphanet:101075"} xref: ICD10CM:G60.0 {source="Orphanet:101075/attributed", source="Orphanet:101075/ntbt", source="DOID:0110209", source="Orphanet:101075"} xref: MESH:C535919 {source="Orphanet:101075/e", source="Orphanet:101075"} xref: NCIT:C129068 {source="MONDO:equivalentTo"} @@ -206048,6 +209952,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010550 name: Charcot-Marie-Tooth disease X-linked recessive 2 def: "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." [Orphanet:101076] +subset: gard_rare {source="GARD:1243"} subset: ordo_disease {source="Orphanet:101076"} synonym: "Charcot Marie Tooth disease X-linked recessive 2" EXACT [GARD:0001243] synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [DOID:0110208, MONDORULE:1] @@ -206059,6 +209964,7 @@ synonym: "CMTX 2" EXACT [GARD:0001243] synonym: "CMTX2" EXACT ABBREVIATION [DOID:0110208, MONDO:Lexical, OMIM:302801, Orphanet:101076] synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208] xref: DOID:0110208 {source="MONDO:equivalentTo"} +xref: GARD:1243 {source="Orphanet:101076"} xref: ICD10CM:G60.0 {source="DOID:0110208", source="Orphanet:101076/attributed", source="Orphanet:101076/ntbt", source="Orphanet:101076"} xref: MESH:C535302 {source="MONDO:equivalentTo"} xref: OMIM:302801 {source="DOID:0110208", source="Orphanet:101076/e", source="MONDO:equivalentTo", source="Orphanet:101076"} @@ -206074,6 +209980,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010551 name: Charcot-Marie-Tooth disease X-linked recessive 3 def: "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." [Orphanet:101077] +subset: gard_rare {source="GARD:1244"} subset: ordo_disease {source="Orphanet:101077"} synonym: "Charcot Marie Tooth disease X-linked recessive 3" EXACT [GARD:0001244] synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [DOID:0110211, MONDORULE:1] @@ -206086,6 +209993,7 @@ synonym: "CMTX 3" EXACT [GARD:0001244] synonym: "CMTX3" EXACT ABBREVIATION [DOID:0110211, MONDO:Lexical, OMIM:302802, Orphanet:101077] synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211] xref: DOID:0110211 {source="MONDO:equivalentTo"} +xref: GARD:1244 {source="Orphanet:101077"} xref: ICD10CM:G60.0 {source="Orphanet:101077", source="Orphanet:101077/attributed", source="Orphanet:101077/ntbt", source="DOID:0110211"} xref: MESH:C535303 {source="MONDO:equivalentTo"} xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="Orphanet:101077/e", source="DOID:0110211"} @@ -206119,7 +210027,7 @@ is_a: MONDO:0003847 {source="MESH:C564446/inferred"} ! hereditary disease id: MONDO:0010554 name: Abruzzo-Erickson syndrome def: "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." [Orphanet:921] -subset: gard_rare {source="GARD:0000360"} +subset: gard_rare {source="GARD:360"} subset: ordo_malformation_syndrome {source="Orphanet:921"} synonym: "ABERS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302905] synonym: "Abruzzo-Erickson syndrome" EXACT [MONDO:Lexical, OMIM:302905] @@ -206128,6 +210036,7 @@ synonym: "CHARGE-like syndrome" EXACT [Orphanet:921] synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921] xref: DOID:0111826 {source="MONDO:equivalentTo"} +xref: GARD:360 {source="Orphanet:921"} xref: ICD10CM:Q87.8 {source="Orphanet:921/attributed", source="Orphanet:921/ntbt", source="Orphanet:921"} xref: MESH:C535559 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} xref: OMIM:302905 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} @@ -206145,7 +210054,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/360/abruzzo- id: MONDO:0010555 name: X-linked chondrodysplasia punctata 1 def: "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." [Orphanet:79345] -subset: gard_rare +subset: gard_rare {source="GARD:1296"} subset: ordo_malformation_syndrome {source="Orphanet:79345"} subset: prototype_pattern synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene] @@ -206164,6 +210073,7 @@ synonym: "Cpxr" RELATED [OMIM:302950] synonym: "X-linked chondrodysplasia punctata 1" EXACT CLINGEN_PREFERRED [] synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT [] synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern] +xref: GARD:1296 {source="Orphanet:79345"} xref: ICD10CM:Q77.3 {source="Orphanet:79345/attributed", source="Orphanet:79345/ntbt", source="Orphanet:79345"} xref: MESH:C535941 {source="Orphanet:79345/e", source="Orphanet:79345"} xref: OMIM:302950 {source="Orphanet:79345/e", source="MONDO:equivalentTo", source="GARD:0001296", source="Orphanet:79345"} @@ -206185,7 +210095,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1296/chondro id: MONDO:0010556 name: X-linked chondrodysplasia punctata def: "X-linked form of chondrodysplasia punctata." [MONDO:patterns/x_linked] -subset: gard_rare subset: ordo_disease {source="Orphanet:35173"} subset: prototype_pattern synonym: "chondrodysplasia punctata, X-linked" EXACT [MONDO:patterns/x_linked] @@ -206207,7 +210116,7 @@ intersection_of: has_characteristic HP:0001417 ! X-linked inheritance id: MONDO:0010557 name: choroideremia def: "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." [Orphanet:180] -subset: gard_rare {source="GARD:0006061"} +subset: gard_rare {source="GARD:6061"} subset: ordo_disease {source="Orphanet:180"} synonym: "CHM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303100, Orphanet:180] synonym: "choroidal sclerosis" RELATED [OMIM:303100] @@ -206218,6 +210127,7 @@ synonym: "Tapetochoroidal dystrophy" EXACT [Orphanet:180] synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100] synonym: "TCD" RELATED ABBREVIATION [GARD:0006061] xref: DOID:9821 {source="MONDO:equivalentTo"} +xref: GARD:6061 {source="Orphanet:180"} xref: ICD10CM:H31.2 {source="Orphanet:180/ntbt", source="Orphanet:180/inclusion", source="Orphanet:180"} xref: ICD10CM:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"} xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -206241,6 +210151,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6061/choroid id: MONDO:0010558 name: choroideremia-deafness-obesity syndrome def: "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." [Orphanet:1435] +subset: gard_rare {source="GARD:369"} subset: ordo_malformation_syndrome {source="Orphanet:1435"} synonym: "Ayazi syndrome" EXACT [Orphanet:1435] synonym: "choroideremia deafness obesity" RELATED [GARD:0000369] @@ -206249,6 +210160,7 @@ synonym: "choroideremia, deafness, and mental retardation" RELATED DEPRECATED [O synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369] synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110] synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [OMIM:303110, OMIM:genemap2] +xref: GARD:369 {source="Orphanet:1435"} xref: ICD10CM:Q87.8 {source="Orphanet:1435", source="Orphanet:1435/attributed", source="Orphanet:1435/ntbt"} xref: MESH:C537793 {source="MONDO:equivalentTo"} xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="Orphanet:1435/e"} @@ -206264,6 +210176,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010559 name: MASA syndrome def: "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." [Orphanet:2466] +subset: gard_rare {source="GARD:6986"} subset: ordo_clinical_subtype {source="Orphanet:2466"} synonym: "adducted thumb with intellectual disability" RELATED [OMIM:303350] synonym: "adducted thumb with mental retardation" RELATED DEPRECATED [OMIM:303350] @@ -206293,6 +210206,7 @@ synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [DOID synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246] synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246] xref: DOID:0060246 {source="MONDO:equivalentTo"} +xref: GARD:6986 {source="Orphanet:2466"} xref: ICD10CM:G11.4 {source="Orphanet:2466/attributed", source="Orphanet:2466/ntbt", source="DOID:0060246", source="Orphanet:2466"} xref: MESH:C536029 {source="DOID:0060246", source="Orphanet:2466", source="Orphanet:2466/e"} xref: NCIT:C129930 {source="MONDO:equivalentTo"} @@ -206313,7 +210227,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010560 name: cleft palate with or without ankyloglossia, X-linked def: "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." [Orphanet:324601] -subset: gard_rare +subset: gard_rare {source="GARD:1394"} subset: ordo_malformation_syndrome {source="Orphanet:324601"} synonym: "cleft palate with ankyloglossia" EXACT [OMIM:303400, OMIM:genemap2] synonym: "cleft palate with or without ankyloglossia, X-linked" EXACT CLINGEN_PREFERRED [MESH:C536426, MONDO:Lexical, OMIM:303400] @@ -206323,6 +210237,7 @@ synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical, synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426] synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, Orphanet:324601] xref: DOID:0060613 {source="MONDO:equivalentTo"} +xref: GARD:1394 {source="Orphanet:324601"} xref: ICD10CM:Q35.9 {source="Orphanet:324601/attributed", source="Orphanet:324601/ntbt", source="Orphanet:324601"} xref: MESH:C536426 {source="MONDO:equivalentTo"} xref: OMIM:303400 {source="Orphanet:324601/ntbt", source="Orphanet:324601", source="MONDO:equivalentTo", source="DOID:0060613", source="GARD:0001394"} @@ -206340,7 +210255,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1394/cleft-p id: MONDO:0010561 name: Coffin-Lowry syndrome def: "A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." [Orphanet:192] -subset: gard_rare {source="GARD:0006123"} +subset: gard_rare {source="GARD:6123"} subset: ordo_malformation_syndrome {source="Orphanet:192"} synonym: "CLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303600, Orphanet:192] synonym: "Coffin syndrome" RELATED [GARD:0006123] @@ -206353,6 +210268,7 @@ synonym: "intellectual disability with osteocartilaginous abnormalities" RELATED synonym: "lean spastic dwarfism" RELATED [GARD:0008589, MESH:C536435] synonym: "mental retardation with osteocartilaginous abnormalities" RELATED DEPRECATED [GARD:0006123] xref: DOID:3783 {source="MONDO:equivalentTo"} +xref: GARD:6123 {source="Orphanet:192"} xref: ICD10CM:Q87.0 {source="Orphanet:192", source="Orphanet:192/attributed", source="Orphanet:192/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536435 {source="MONDO:equivalentTo"} @@ -206383,12 +210299,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8589/coffin- id: MONDO:0010562 name: colonic atresia def: "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." [Orphanet:1198] +subset: gard_rare {source="GARD:1446"} subset: ordo_morphological_anomaly {source="Orphanet:1198"} synonym: "atresia of colon" EXACT [NCIT:C101024] synonym: "colon atresia" EXACT [NCIT:C101024] synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650] synonym: "colonic atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital atresia of colon" EXACT [NCIT:C101024] +xref: GARD:1446 {source="Orphanet:1198"} xref: HP:0010448 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q42.9 {source="Orphanet:1198", source="Orphanet:1198/attributed", source="Orphanet:1198/ntbt"} xref: MESH:C562562 {source="MONDO:equivalentTo"} @@ -206406,7 +210324,7 @@ property_value: IAO:0000589 "colonic atresia (disease)" xsd:string id: MONDO:0010563 name: blue cone monochromacy def: "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." [Orphanet:16] -subset: gard_rare +subset: gard_rare {source="GARD:917"} subset: ordo_disease {source="Orphanet:16"} synonym: "achromatopsia incomplete X-linked" RELATED [GARD:0000917] synonym: "atypical X-linked achromatopsia" EXACT [Orphanet:16] @@ -206428,6 +210346,7 @@ synonym: "X-chromosome-linked achromatopsia" RELATED [GARD:0000917] synonym: "X-linked achromatopsia incomplete" RELATED [GARD:0000917] synonym: "X-linked incomplete achromatopsia" EXACT [Orphanet:16] xref: DOID:0050679 {source="MONDO:equivalentTo"} +xref: GARD:917 {source="Orphanet:16"} xref: ICD10CM:H53.5 {source="Orphanet:16/inclusion", source="Orphanet:16", source="Orphanet:16/ntbt"} xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"} xref: MESH:C538165 {source="Orphanet:16", source="Orphanet:16/e"} @@ -206507,7 +210426,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010566 name: X-linked cone-rod dystrophy 1 -subset: gard_rare {source="GARD:0010652"} +subset: gard_rare {source="GARD:10652"} synonym: "COD1" EXACT ABBREVIATION [DOID:0111008] synonym: "cone dystrophy 1, X-linked" RELATED [OMIM:304020] synonym: "cone dystrophy X-linked 1" RELATED [GARD:0010652] @@ -206519,6 +210438,7 @@ synonym: "CORDX1" EXACT ABBREVIATION [DOID:0111008, MONDO:Lexical, OMIM:304020] synonym: "X-linked cone dystrophy 1" EXACT [DOID:0111008] synonym: "X-linked cone-rod dystrophy type 1" EXACT [DOID:0111008, MONDORULE:1] xref: DOID:0111008 {source="MONDO:equivalentTo"} +xref: GARD:10652 {source="OMIM:304020"} xref: MESH:C564438 {source="MONDO:equivalentTo"} xref: OMIM:304020 {source="DOID:0111008", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="MONDO:relatedTo", source="OMIM:304020"} @@ -206534,10 +210454,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10652/cone-r [Term] id: MONDO:0010567 name: cone dystrophy, X-linked, with tapetal-like sheen -subset: gard_rare {source="GARD:0010119"} +subset: gard_rare {source="GARD:10119"} synonym: "cone dystrophy X-linked with tapetal-like sheen" RELATED [GARD:0010119] synonym: "cone dystrophy, X-linked, with tapetal-like sheen" EXACT [OMIM:304030] synonym: "X-linked recessive cone dystrophy with tapetal-like sheen" RELATED [GARD:0010119] +xref: GARD:10119 {source="OMIM:304030"} xref: MESH:C535975 {source="MONDO:equivalentTo"} xref: OMIM:304030 {source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="OMIM:304030"} @@ -206551,7 +210472,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10119/cone-d id: MONDO:0010568 name: Aicardi syndrome def: "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." [Orphanet:50] -subset: gard_rare {source="GARD:0005764"} +subset: gard_rare {source="GARD:5764"} subset: ordo_disease {source="Orphanet:50"} synonym: "agenesis of corpus callosum with chorioretinal abnormality" EXACT [Orphanet:50] synonym: "AIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304050] @@ -206560,6 +210481,7 @@ synonym: "Aicardi syndrome, X-linked dominant" EXACT [OMIM:304050, OMIM:genemap2 synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orphanet:50] synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED [OMIM:304050] xref: DOID:8461 {source="MONDO:equivalentTo"} +xref: GARD:5764 {source="Orphanet:50"} xref: ICD10CM:Q04.0 {source="Orphanet:50/attributed", source="Orphanet:50/ntbt", source="Orphanet:50"} xref: MedDRA:10054935 {source="Orphanet:50/e", source="Orphanet:50"} xref: MESH:D058540 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} @@ -206584,12 +210506,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5764/aicardi id: MONDO:0010569 name: X-linked complicated corpus callosum dysgenesis def: "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." [Orphanet:1497] +subset: gard_rare {source="GARD:12526"} subset: ordo_clinical_subtype {source="Orphanet:1497"} synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [OMIM:304100] synonym: "corpus callosum, partial agenesis of, X-linked recessive" EXACT [OMIM:304100, OMIM:genemap2] synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526] synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526] synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526] +xref: GARD:12526 {source="Orphanet:1497"} xref: ICD10CM:Q04.8 {source="Orphanet:1497", source="Orphanet:1497/attributed", source="Orphanet:1497/ntbt"} xref: MESH:C564115 {source="MONDO:equivalentTo"} xref: OMIM:304100 {source="Orphanet:1497", source="MONDO:equivalentTo", source="Orphanet:1497/e"} @@ -206605,6 +210529,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010570 name: craniofrontonasal syndrome def: "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." [Orphanet:1520] +subset: gard_rare {source="GARD:1578"} subset: ordo_malformation_syndrome {source="Orphanet:1520"} synonym: "CFND" EXACT ABBREVIATION [Orphanet:1520] synonym: "CFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304110, Orphanet:1520] @@ -206613,6 +210538,7 @@ synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110] synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [OMIM:304110, OMIM:genemap2] synonym: "craniofrontonasal syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:304110, Orphanet:1520] xref: DOID:14737 {source="MONDO:equivalentTo"} +xref: GARD:1578 {source="Orphanet:1520"} xref: ICD10CM:Q87.1 {source="Orphanet:1520/attributed", source="Orphanet:1520/ntbt", source="Orphanet:1520"} xref: MESH:C536456 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} xref: OMIM:304110 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} @@ -206637,6 +210563,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010571 name: otopalatodigital syndrome type 2 def: "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." [Orphanet:90652] +subset: gard_rare {source="GARD:5802"} subset: ordo_clinical_subtype {source="Orphanet:90652"} synonym: "Andre syndrome" RELATED [GARD:0005802] synonym: "cranio-oro-digital syndrome" RELATED [GARD:0005802] @@ -206652,6 +210579,7 @@ synonym: "otopalatodigital syndrome, type 2" RELATED [OMIM:304120] synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:304120] synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304120, OMIM:genemap2] xref: DOID:0111784 {source="MONDO:equivalentTo"} +xref: GARD:5802 {source="Orphanet:90652"} xref: ICD10CM:Q87.0 {source="Orphanet:90652", source="Orphanet:90652/attributed", source="Orphanet:90652/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538089 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} @@ -206671,6 +210599,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010572 name: occipital horn syndrome def: "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." [Orphanet:198] +subset: gard_rare {source="GARD:4017"} subset: ordo_disease {source="Orphanet:198"} synonym: "cutis laxa X-linked" RELATED [GARD:0004017] synonym: "cutis laxa, X-linked" RELATED [OMIM:304150] @@ -206690,6 +210619,7 @@ synonym: "occipital horn syndrome, X-linked recessive" EXACT [OMIM:304150, OMIM: synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304150] synonym: "X-linked cutis laxa" EXACT [Orphanet:198] xref: DOID:0111272 {source="MONDO:equivalentTo"} +xref: GARD:4017 {source="Orphanet:198"} xref: ICD10CM:E83.0 {source="Orphanet:198/attributed", source="Orphanet:198/ntbt", source="Orphanet:198"} xref: MESH:C537860 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} xref: OMIM:304150 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} @@ -206726,6 +210656,7 @@ id: MONDO:0010574 name: syndromic X-linked intellectual disability 5 def: "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." [Orphanet:1568] comment: Editor note: check relationship to friend syndrome +subset: gard_rare {source="GARD:16752", source="GARD:8520"} subset: ordo_malformation_syndrome {source="Orphanet:85329", source="Orphanet:1568"} synonym: "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" RELATED [GARD:0008520] synonym: "fried syndrome" RELATED [DOID:0060800] @@ -206765,6 +210696,8 @@ synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressi synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800] xref: DOID:0060800 {source="MONDO:equivalentTo"} +xref: GARD:16752 {source="Orphanet:85329"} +xref: GARD:8520 {source="Orphanet:1568"} xref: ICD10CM:Q23.8 {source="Orphanet:1568", source="Orphanet:1568/attributed", source="Orphanet:1568/ntbt"} xref: ICD10CM:Q87.8 {source="DOID:0060800", source="Orphanet:85329", source="Orphanet:85329/attributed", source="Orphanet:85329/ntbt"} xref: NCIT:C124839 {source="MONDO:equivalentTo"} @@ -206790,11 +210723,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010575 name: deafness-hypogonadism syndrome def: "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." [Orphanet:90646] -subset: gard_rare {source="GARD:0001691"} +subset: gard_rare {source="GARD:1691"} subset: ordo_malformation_syndrome {source="Orphanet:90646"} synonym: "deafness hypogonadism syndrome" RELATED [GARD:0001691] synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350] synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304350] +xref: GARD:1691 {source="Orphanet:90646"} xref: MESH:C564435 {source="MONDO:equivalentTo"} xref: OMIM:304350 {source="Orphanet:90646/e", source="MONDO:equivalentTo", source="Orphanet:90646"} xref: Orphanet:90646 {source="MONDO:equivalentTo", source="OMIM:304350"} @@ -206808,7 +210742,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1691/deafnes id: MONDO:0010576 name: X-linked mixed hearing loss with perilymphatic gusher def: "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." [Orphanet:383] -subset: gard_rare +subset: gard_rare {source="GARD:4504"} subset: ordo_clinical_subtype {source="Orphanet:383"} synonym: "central hearing loss" BROAD [DOID:10003, ICD9CM:389.14] synonym: "conductive deafness with stapes fixation" NARROW [Orphanet:383] @@ -206848,6 +210782,7 @@ synonym: "X-linked stapes gusher syndrome" EXACT [Orphanet:383] xref: DOID:0111737 {source="MONDO:equivalentTo"} xref: DOID:10003 {source="EFO:1001176", source="MONDO:relatedTo"} xref: EFO:1001176 {source="MONDO:equivalentTo"} +xref: GARD:4504 {source="OMIM:304400"} xref: ICD10CM:H90.5 {source="DOID:10003"} xref: ICD10CM:H90.8 {source="Orphanet:383/attributed", source="Orphanet:383/ntbt", source="Orphanet:383"} xref: ICD10CM:H91.9 {source="DOID:10003"} @@ -206884,11 +210819,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010577 name: hearing loss, X-linked 1 +subset: gard_rare {source="GARD:18098"} synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical, OMIM:304500, OMIM:genemap2] synonym: "deafness, X-linked 2, sensorineural congenital" NARROW [OMIM:304500] synonym: "deafness, X-linked type 1" NARROW [MONDORULE:1, OMIM:304500] synonym: "DFNX1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:304500] xref: DOID:0111739 {source="MONDO:equivalentTo"} +xref: GARD:18098 {source="OMIM:304500"} xref: MESH:C564433 {source="MONDO:equivalentTo"} xref: OMIM:304500 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:304500"} @@ -206903,6 +210840,7 @@ id: MONDO:0010578 name: deafness dystonia syndrome def: "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." [Orphanet:52368] subset: clingen +subset: gard_rare {source="GARD:8331"} subset: ordo_disease {source="Orphanet:52368"} synonym: "DDON syndrome" EXACT [Orphanet:52368] synonym: "DDP" RELATED ABBREVIATION [GARD:0008331] @@ -206922,6 +210860,7 @@ synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757] synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [OMIM:304700, OMIM:genemap2] synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304700] xref: DOID:0050757 {source="MONDO:equivalentTo"} +xref: GARD:8331 {source="Orphanet:52368"} xref: ICD10CM:G31.8 {source="Orphanet:52368/attributed", source="Orphanet:52368/ntbt", source="Orphanet:52368"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535808 {source="Orphanet:52368", source="MONDO:equivalentTo", source="Orphanet:52368/e"} @@ -206940,7 +210879,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010579 name: X-linked corneal dermoid def: "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." [Orphanet:1661] -subset: gard_rare +subset: gard_rare {source="GARD:2580"} subset: ordo_disease {source="Orphanet:1661"} synonym: "bilateral corneal dermoids" RELATED [MESH:C535376] synonym: "CND" RELATED ABBREVIATION [GARD:0002580, MESH:C535376, MONDO:Lexical, OMIM:304730] @@ -206949,6 +210888,7 @@ synonym: "corneal dystrophy epithelial-short stature syndrome" EXACT [Orphanet:1 synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730] synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376] synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661] +xref: GARD:2580 {source="Orphanet:1661"} xref: ICD10CM:Q13.4 {source="Orphanet:1661/attributed", source="Orphanet:1661/ntbt", source="Orphanet:1661"} xref: MESH:C535376 {source="MONDO:equivalentTo"} xref: OMIM:304730 {source="Orphanet:1661", source="MONDO:equivalentTo", source="Orphanet:1661/e", source="GARD:0002580"} @@ -206964,6 +210904,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2580/dermoid id: MONDO:0010580 name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome def: "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." [Orphanet:37042] +subset: gard_rare {source="GARD:1850"} subset: ordo_disease {source="Orphanet:37042"} synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042] synonym: "autoimmunity-immunodeficiency syndrome X-linked" RELATED [GARD:0001850] @@ -207000,6 +210941,7 @@ synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:009 synonym: "XLAAD" EXACT ABBREVIATION [DOID:0090110] synonym: "XPID" EXACT ABBREVIATION [DOID:0090110] xref: DOID:0090110 {source="MONDO:equivalentTo"} +xref: GARD:1850 {source="Orphanet:37042"} xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="MONDO:directSiblingOf", source="Orphanet:37042/attributed", source="Orphanet:37042/ntbt"} xref: ICD9:250.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580192 {source="MONDO:equivalentTo"} @@ -207023,11 +210965,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010581 name: diabetes insipidus, nephrogenic, X-linked +subset: gard_rare {source="GARD:15289"} synonym: "diabetes insipidus, nephrogenic, 1, X-linked recessive" EXACT [OMIM:304800, OMIM:genemap2] synonym: "diabetes insipidus, nephrogenic, type 1" RELATED [OMIM:304800] synonym: "diabetes insipidus, nephrogenic, X-linked" EXACT CLINGEN_PREFERRED [OMIM:304800] synonym: "Ndi" RELATED [OMIM:304800] xref: DOID:0081060 {source="MONDO:equivalentTo"} +xref: GARD:15289 {source="OMIM:304800"} xref: OMIM:304800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="OMIM:304800"} xref: UMLS:C1563705 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:304800"} @@ -207042,8 +210986,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010582 name: obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance comment: The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." +subset: gard_rare {source="GARD:18603"} synonym: "diabetes insipidus, neurohypophyseal type" EXACT [OMIM:304900] xref: DOID:0081059 {source="MONDO:obsoleteEquivalent"} +xref: GARD:18603 {source="MONDO:obsoleteEquivalent", source="OMIM:304900"} xref: OMIM:304900 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:178029 {source="OMIM:304900"} xref: Orphanet:30925 {source="OMIM:304900"} @@ -207057,9 +211003,11 @@ is_obsolete: true id: MONDO:0010583 name: Dyggve-Melchior-Clausen syndrome, X-linked def: "X-linked form of Dyggve-Melchior-Clausen disease." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:15290"} synonym: "Dyggve-Melchior-Clausen disease, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked] synonym: "Dyggve-Melchior-Clausen syndrome, X-linked" EXACT [OMIM:304950] synonym: "X-linked Dyggve-Melchior-Clausen disease" EXACT [MONDO:design_pattern] +xref: GARD:15290 {source="OMIM:304950"} xref: OMIM:304950 {source="MONDO:equivalentTo"} xref: Orphanet:239 {source="OMIM:304950"} xref: UMLS:C1844654 {source="OMIM:304950", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -207072,6 +211020,7 @@ property_value: confidence "2.9681818181818183" xsd:double id: MONDO:0010584 name: dyskeratosis congenita, X-linked def: "X-linked form of dyskeratosis congenita." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:2007"} synonym: "cerebellar hypoplasia with pancytopenia" RELATED [OMIM:305000] synonym: "DKCX" EXACT ABBREVIATION [DOID:0070025, GARD:0002007, MONDO:Lexical, OMIM:305000] synonym: "dyskeratosis congenita X-linked" RELATED [GARD:0002007] @@ -207082,6 +211031,7 @@ synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352, OMIM:305000] synonym: "X-linked dyskeratosis congenita" EXACT [DOID:0070025, GARD:0002007] synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000] xref: DOID:0070025 {source="MONDO:equivalentTo"} +xref: GARD:2007 {source="OMIM:305000"} xref: NCIT:C126352 {source="MONDO:equivalentTo"} xref: OMIM:305000 {source="DOID:0070025", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:305000"} @@ -207100,6 +211050,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010585 name: X-linked hypohidrotic ectodermal dysplasia def: "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." [MESH:D053358] +subset: gard_rare {source="GARD:10427"} subset: ordo_etiological_subtype {source="Orphanet:181"} synonym: "anhidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427] synonym: "Christ-Siemens-Touraine syndrome" EXACT [Orphanet:181] @@ -207118,6 +211069,7 @@ synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT CLINGEN_PREFERRED [] synonym: "XHED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:305100, Orphanet:181] synonym: "Xlhed" RELATED [OMIM:305100] xref: DOID:0111664 {source="MONDO:equivalentTo"} +xref: GARD:10427 {source="Orphanet:181"} xref: ICD10CM:Q82.4 {source="Orphanet:181", source="Orphanet:181/attributed", source="Orphanet:181/ntbt"} xref: MESH:D053358 {source="Orphanet:181", source="Orphanet:181/e"} xref: OMIM:305100 {source="MONDO:equivalentTo", source="Orphanet:181", source="Orphanet:181/e"} @@ -207138,6 +211090,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010586 name: X-linked Ehlers-Danlos syndrome def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." [Orphanet:75497] +subset: gard_rare {source="GARD:8505"} subset: ordo_disease {source="Orphanet:75497"} synonym: "EDS 5" RELATED [OMIM:305200] synonym: "EDS V" EXACT [Orphanet:75497] @@ -207146,6 +211099,7 @@ synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497] synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked] +xref: GARD:8505 {source="Orphanet:75497"} xref: ICD10CM:Q79.6 {source="Orphanet:75497", source="Orphanet:75497/attributed", source="Orphanet:75497/ntbt"} xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="Orphanet:75497/e"} xref: NCIT:C141423 {source="MONDO:equivalentTo"} @@ -207162,10 +211116,12 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0010587 name: epidermodysplasia verruciformis, X-linked def: "X-linked form of epidermodysplasia verruciformis." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:15291"} synonym: "EDV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350] synonym: "EDVX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350] synonym: "epidermodysplasia verruciformis, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked epidermodysplasia verruciformis" EXACT [MONDO:design_pattern] +xref: GARD:15291 {source="OMIM:305350"} xref: MESH:C564430 {source="MONDO:equivalentTo"} xref: OMIM:305350 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:305350"} @@ -207180,6 +211136,7 @@ property_value: confidence "2.9681818181818183" xsd:double id: MONDO:0010588 name: exudative vitreoretinopathy 2, X-linked def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15292"} synonym: "EVR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305390] synonym: "Evrx" RELATED [OMIM:305390] synonym: "exudative vitreoretinopathy 2, X-linked" EXACT [MONDO:Lexical, OMIM:305390] @@ -207189,6 +211146,7 @@ synonym: "exudative vitreoretinopathy, familial, 2" RELATED [OMIM:305390] synonym: "Fevr, X-linked" RELATED [OMIM:305390] synonym: "NDP exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111413 {source="MONDO:equivalentTo"} +xref: GARD:15292 {source="OMIM:305390"} xref: MESH:C564428 {source="MONDO:equivalentTo"} xref: OMIM:305390 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:305390"} @@ -207253,6 +211211,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010590 name: FG syndrome 1 def: "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2317"} synonym: "FG syndrome" RELATED [OMIM:305450] synonym: "FG syndrome 1" EXACT [OMIM:305450] synonym: "FG syndrome caused by mutation in MED12" EXACT [MONDO:design_pattern] @@ -207264,6 +211223,7 @@ synonym: "mental retardation, large head, imperforate anus, congenital hypotonia synonym: "OKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305450] synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical, OMIM:305450] synonym: "Opitz-Kaveggia syndrome, X-linked recessive" EXACT [OMIM:305450, OMIM:genemap2] +xref: GARD:2317 {source="Orphanet:93932"} xref: OMIM:305450 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:305450"} xref: Orphanet:93932 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -207284,9 +211244,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010591 name: fingerprint body myopathy def: "Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." [Orphanet:97232] -subset: gard_rare {source="GARD:0012720"} +subset: gard_rare {source="GARD:12720"} subset: ordo_disease {source="Orphanet:97232"} synonym: "fingerprint body myopathy" EXACT [OMIM:305550] +xref: GARD:12720 {source="Orphanet:97232"} xref: ICD10CM:G71.2 {source="Orphanet:97232/attributed", source="Orphanet:97232/ntbt", source="Orphanet:97232"} xref: MESH:C564425 {source="MONDO:equivalentTo"} xref: OMIM:305550 {source="Orphanet:97232/e", source="MONDO:equivalentTo", source="Orphanet:97232"} @@ -207300,6 +211261,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12720/finger id: MONDO:0010592 name: focal dermal hypoplasia def: "A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." [Orphanet:2092] +subset: gard_rare {source="GARD:6457"} subset: ordo_malformation_syndrome {source="Orphanet:2092"} synonym: "DHOF" RELATED ABBREVIATION [GARD:0006457] synonym: "FDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305600] @@ -207310,6 +211272,7 @@ synonym: "Goltz Gorlin syndrome" RELATED [GARD:0006457] synonym: "Goltz syndrome" EXACT [DOID:2120, OMIM:305600, Orphanet:2092] synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092] xref: DOID:2120 {source="MONDO:equivalentTo"} +xref: GARD:6457 {source="Orphanet:2092"} xref: ICD10CM:Q82.8 {source="Orphanet:2092", source="Orphanet:2092/index", source="Orphanet:2092/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} @@ -207360,7 +211323,6 @@ id: MONDO:0010595 name: Sertoli cell-only syndrome def: "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome] comment: Editor note: consider moving OMIMPS from azoospermia to here -subset: gard_rare {source="GARD:0008406"} synonym: "DEL CASTILLO syndrome" EXACT [DOID:0050457] synonym: "Del Castillo syndrome" RELATED [OMIM:305700] synonym: "Germinal cell aplasia" EXACT [DOID:0050457, OMIM:305700] @@ -207402,7 +211364,7 @@ is_a: MONDO:0003847 {source="MESH:C564422/inferred"} ! hereditary disease id: MONDO:0010598 name: glycogen storage disease IXa1 def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." [MONDO:design_pattern] -subset: gard_rare +subset: gard_rare {source="GARD:18386"} synonym: "glycogen storage disease 8" RELATED [GARD:0006538] synonym: "glycogen storage disease caused by mutation in PHKA2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease IXa" BROAD [DOID:0111042] @@ -207434,6 +211396,7 @@ synonym: "PYKL" RELATED ABBREVIATION [GARD:0006538] xref: DOID:0111042 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2751 {source="MONDO:equivalentTo", source="EFO:1000952"} xref: EFO:1000952 {source="MONDO:equivalentTo"} +xref: GARD:18386 {source="OMIM:306000"} xref: ICD10CM:E74.0 {source="DOID:0111042"} xref: MedDRA:10053242 {source="EFO:1000952"} xref: MESH:C564421 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -207461,7 +211424,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6538/glycoge [Term] id: MONDO:0010599 name: granulomas, congenital cerebral -subset: gard_rare {source="GARD:0008368"} synonym: "congenital cerebral granulomas" RELATED [GARD:0008368] synonym: "granulomas, congenital cerebral" EXACT [OMIM:306300] xref: MESH:C537294 {source="MONDO:equivalentTo"} @@ -207473,6 +211435,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8368/granulo [Term] id: MONDO:0010600 name: granulomatous disease, chronic, X-linked +subset: gard_rare {source="GARD:15294"} synonym: "CDGX" EXACT ABBREVIATION [OMIM:306400] synonym: "CGD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:306400] synonym: "chronic granulomatous disease, atypical" EXACT [OMIM:306400] @@ -207485,6 +211448,7 @@ synonym: "granulomatous disease, chronic, X-linked" EXACT CLINGEN_PREFERRED [MON synonym: "granulomatous disease, chronic, X-linked, variant" EXACT [OMIM:306400] xref: DOID:0070190 {source="MONDO:equivalentObsolete"} xref: DOID:0070195 {source="MONDO:equivalentTo"} +xref: GARD:15294 {source="OMIM:306400"} xref: MESH:C564210 {source="MONDO:equivalentTo"} xref: OMIM:138990 {source="MONDO:equivalentObsolete"} xref: OMIM:306400 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -207517,6 +211481,7 @@ consider: MONDO:0010720 id: MONDO:0010602 name: hemophilia A def: "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." [Orphanet:98878] +subset: gard_rare {source="GARD:6591"} subset: ordo_disease {source="Orphanet:98878"} synonym: "autosomal haemophilia a" RELATED OMO:0003005 [] synonym: "autosomal hemophilia a" RELATED [OMIM:134500] @@ -207546,6 +211511,7 @@ synonym: "Subhemophilia" EXACT [DOID:12134] xref: DOID:0111823 {source="MONDO:mondoIsBroaderThanSource"} xref: DOID:12134 {source="MONDO:equivalentTo", source="EFO:0007267"} xref: EFO:0007267 {source="MONDO:equivalentTo"} +xref: GARD:6591 {source="Orphanet:98878"} xref: ICD10CM:D66 {source="Orphanet:98878", source="Orphanet:98878/specific", source="DOID:12134", source="Orphanet:98878/e"} xref: ICD9:286.0 {source="DOID:12134"} xref: MedDRA:10016080 {source="Orphanet:98878", source="Orphanet:98878/e"} @@ -207584,7 +211550,7 @@ relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:3 id: MONDO:0010604 name: hemophilia B def: "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." [Orphanet:98879] -subset: gard_rare {source="GARD:0008732"} +subset: gard_rare {source="GARD:8732"} subset: ordo_disease {source="Orphanet:98879"} synonym: "Christmas disease" EXACT [OMIM:306900, Orphanet:98879] synonym: "congenital factor IX deficiency" EXACT [DOID:12259] @@ -207609,6 +211575,7 @@ synonym: "hereditary Factor IX deficiency disease" EXACT [NCIT:C26721] synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900] xref: DOID:12259 {source="MONDO:equivalentTo"} xref: EFO:0009154 {source="MONDO:equivalentTo"} +xref: GARD:8732 {source="Orphanet:98879"} xref: ICD10CM:D67 {source="DOID:12259", source="Orphanet:98879", source="Orphanet:98879/specific", source="Orphanet:98879/e"} xref: ICD9:286.1 {source="DOID:12259", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10016077 {source="Orphanet:98879", source="Orphanet:98879/e"} @@ -207638,7 +211605,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010606 name: hernia, anterior diaphragmatic +subset: gard_rare {source="GARD:15295"} synonym: "hernia, anterior diaphragmatic" EXACT [OMIM:306950] +xref: GARD:15295 {source="OMIM:306950"} xref: MESH:C564413 {source="MONDO:equivalentTo"} xref: OMIM:306950 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:306950"} @@ -207651,7 +211620,6 @@ property_value: confidence "0.4741109268472452" xsd:double id: MONDO:0010607 name: heterotaxy, visceral, 1, X-linked def: "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." [https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1] -subset: gard_rare {source="GARD:0008591"} synonym: "congenital heart defects, multiple types, 1, X-linked" RELATED [OMIM:306955] synonym: "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive" EXACT [OMIM:306955, OMIM:genemap2] synonym: "dextrocardia with Other Cardiac malformations" RELATED [OMIM:306955] @@ -207699,11 +211667,13 @@ replaced_by: MONDO:0016294 id: MONDO:0010610 name: holoprosencephaly-hypokinesia-congenital contractures syndrome def: "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." [https://orcid.org/0000-0001-5208-3432, Orphanet:2570] +subset: gard_rare {source="GARD:3788"} subset: ordo_malformation_syndrome {source="Orphanet:2570"} synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [OMIM:306990] synonym: "holoprosencephaly with foetal akinesia/hypokinesia sequence" RELATED OMO:0003005 [] synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570] synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570] +xref: GARD:3788 {source="Orphanet:2570"} xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2570/ntbt", source="Orphanet:2570"} xref: MESH:C564409 {source="MONDO:equivalentTo"} xref: OMIM:306990 {source="Orphanet:2570/e", source="MONDO:equivalentTo", source="Orphanet:2570"} @@ -207719,6 +211689,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010611 name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius def: "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." [https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius, https://www.ncbi.nlm.nih.gov/books/NBK1484/, MONDO:cjm, Orphanet:2182] +subset: gard_rare {source="GARD:434"} subset: ordo_clinical_subtype {source="Orphanet:2182"} synonym: "aqueductal stenosis, X-linked" RELATED [OMIM:307000] synonym: "Bickers-Adams syndrome" EXACT [Orphanet:2182] @@ -207738,6 +211709,7 @@ synonym: "X-linked hydrocephalus" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT CLINGEN_PREFERRED [] synonym: "XLAS" RELATED ABBREVIATION [GARD:0000434] +xref: GARD:434 {source="Orphanet:2182"} xref: ICD10CM:Q03.0 {source="Orphanet:2182/inclusion", source="Orphanet:2182", source="Orphanet:2182/ntbt"} xref: MESH:C536078 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:307000 {source="Orphanet:2182/e", source="MONDO:equivalentTo", source="Orphanet:2182"} @@ -207759,11 +211731,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010612 name: hydrocephaly-cerebellar agenesis syndrome def: "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." [Orphanet:1397] -subset: gard_rare +subset: gard_rare {source="GARD:1200"} subset: ordo_malformation_syndrome {source="Orphanet:1397"} synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200] synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010] synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397] +xref: GARD:1200 {source="Orphanet:1397"} xref: ICD10CM:Q04.3 {source="Orphanet:1397/attributed", source="Orphanet:1397/ntbt", source="Orphanet:1397"} xref: MESH:C564407 {source="MONDO:equivalentTo"} xref: OMIM:307010 {source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo", source="Orphanet:1397/e"} @@ -207779,6 +211752,7 @@ id: MONDO:0010613 name: inborn glycerol kinase deficiency def: "An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21311"} subset: ordo_group_of_disorders {source="Orphanet:308993"} synonym: "GK deficiency" RELATED [OMIM:307030] synonym: "GK1 deficiency" RELATED [OMIM:307030] @@ -207790,6 +211764,7 @@ synonym: "inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn synonym: "inborn glycerol kinase activity disorder" EXACT [] synonym: "rare inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0060363 {source="MONDO:equivalentTo"} +xref: GARD:21311 {source="Orphanet:308993"} xref: OMIM:307030 {source="DOID:0060363", source="MONDO:equivalentTo"} xref: Orphanet:308993 {source="MONDO:equivalentTo"} xref: Orphanet:408 {source="DOID:0060363", source="OMIM:307030"} @@ -207808,7 +211783,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010614 name: X-linked congenital generalized hypertrichosis def: "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." [Orphanet:79495] -subset: gard_rare {source="GARD:0002863"} +subset: gard_rare {source="GARD:2863"} subset: ordo_clinical_subtype {source="Orphanet:79495"} synonym: "Cgh" RELATED [OMIM:307150] synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150] @@ -207824,6 +211799,7 @@ synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:3 synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM:307150, OMIM:genemap2] synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495] synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863] +xref: GARD:2863 {source="Orphanet:79495"} xref: ICD10CM:Q84.2 {source="Orphanet:79495/attributed", source="Orphanet:79495/ntbt", source="Orphanet:79495"} xref: MESH:C538388 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} xref: OMIM:307150 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} @@ -207841,7 +211817,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2863/x-linke [Term] id: MONDO:0010615 name: isolated growth hormone deficiency type III -subset: gard_rare {source="GARD:0003921"} +subset: gard_rare {source="GARD:3921"} subset: ordo_clinical_subtype {source="Orphanet:231692"} synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200] synonym: "congenital IGHD type III" EXACT [DOID:0060875, Orphanet:231692] @@ -207864,6 +211840,7 @@ synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692] synonym: "X-linked isolated growth hormone deficiency" EXACT [DOID:0060875, Orphanet:231692] xref: DOID:0060875 {source="MONDO:equivalentTo"} +xref: GARD:3921 {source="Orphanet:231692"} xref: ICD10CM:E23.0 {source="Orphanet:231692", source="Orphanet:231692/attributed", source="Orphanet:231692/ntbt", source="DOID:0060875"} xref: MESH:C537149 {source="MONDO:equivalentTo"} xref: OMIM:307200 {source="Orphanet:231692", source="Orphanet:231692/btnt", source="DOID:0060875", source="MONDO:equivalentTo"} @@ -207888,10 +211865,12 @@ replaced_by: MONDO:0009421 id: MONDO:0010617 name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome def: "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." [Orphanet:2234] +subset: gard_rare {source="GARD:4899"} subset: ordo_malformation_syndrome {source="Orphanet:2234"} synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [OMIM:307500] synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [OMIM:307500] synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234] +xref: GARD:4899 {source="Orphanet:2234"} xref: ICD10CM:Q87.8 {source="Orphanet:2234", source="Orphanet:2234/attributed", source="Orphanet:2234/ntbt"} xref: MESH:C564406 {source="MONDO:equivalentTo"} xref: OMIM:307500 {source="Orphanet:2234", source="MONDO:equivalentTo", source="Orphanet:2234/e"} @@ -207909,12 +211888,15 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010618 name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland def: "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." [NCIT:C131079] +subset: gard_rare {source="GARD:16589", source="GARD:2914"} subset: ordo_clinical_subtype {source="Orphanet:2239"} synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700] synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307700] synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700] synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079] xref: DOID:0111388 {source="MONDO:equivalentTo"} +xref: GARD:16589 {source="Orphanet:2239"} +xref: GARD:2914 {source="OMIM:307700"} xref: ICD10CM:E20.8 {source="Orphanet:2239", source="Orphanet:2239/attributed", source="Orphanet:2239/ntbt"} xref: MESH:C563238 {source="MONDO:equivalentTo"} xref: NCIT:C131079 {source="MONDO:equivalentTo"} @@ -207932,6 +211914,7 @@ property_value: confidence "0.11111111111111116" xsd:double id: MONDO:0010619 name: X-linked dominant hypophosphatemic rickets def: "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." [Orphanet:89936] +subset: gard_rare {source="GARD:12943"} subset: ordo_disease {source="Orphanet:89936"} synonym: "hereditary hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "HPDR" RELATED ABBREVIATION [GARD:0012943] @@ -207954,6 +211937,7 @@ synonym: "X-linked hypophosphatemic rickets" BROAD [Orphanet:89936] synonym: "XLH" EXACT ABBREVIATION [Orphanet:89936] synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307800] xref: DOID:0050445 {source="MONDO:equivalentTo"} +xref: GARD:12943 {source="Orphanet:89936"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89936", source="Orphanet:89936/attributed", source="Orphanet:89936/ntbt"} xref: ICD10CM:E83.31 {source="DOID:0050445"} xref: MESH:D053098 {source="MONDO:relatedTo", source="DOID:0050445"} @@ -207982,7 +211966,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010620 name: hypouricemia, familial renal, due to tubular hypersecretion +subset: gard_rare {source="GARD:15296"} synonym: "hypouricemia, familial renal, due to tubular hypersecretion" EXACT [OMIM:307830] +xref: GARD:15296 {source="OMIM:307830"} xref: MESH:C564405 {source="MONDO:equivalentTo"} xref: OMIM:307830 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:307830"} @@ -207994,7 +211980,7 @@ property_value: confidence "2.124285714285714" xsd:double id: MONDO:0010621 name: CHILD syndrome def: "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." [Orphanet:139] -subset: gard_rare {source="GARD:0006039"} +subset: gard_rare {source="GARD:6039"} subset: ordo_disease {source="Orphanet:139"} synonym: "child nevus" EXACT [Orphanet:139] synonym: "CHILD syndrome" EXACT CLINGEN_PREFERRED [] @@ -208006,6 +211992,7 @@ synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" E synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050] synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039] xref: DOID:0111822 {source="MONDO:equivalentTo"} +xref: GARD:6039 {source="Orphanet:139"} xref: ICD10CM:Q87.8 {source="Orphanet:139", source="Orphanet:139/attributed", source="Orphanet:139/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562515 {source="MONDO:equivalentTo"} @@ -208030,6 +212017,7 @@ id: MONDO:0010622 name: recessive X-linked ichthyosis def: "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." [Orphanet:461] comment: There are both syndromic and non-syndromic forms of this disease (PMID:20643494). +subset: gard_rare {source="GARD:7904"} subset: ordo_disease {source="Orphanet:461"} synonym: "ichthyosis (disease), X-linked" EXACT [MONDO:patterns/x_linked] synonym: "ichthyosis , X-linked, X-linked recessive" EXACT [OMIM:308100, OMIM:genemap2] @@ -208050,6 +212038,7 @@ synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700] synonym: "XLI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308100, Orphanet:461] xref: DECIPHER:27 {source="MONDO:equivalentTo"} xref: DOID:1700 {source="MONDO:equivalentTo"} +xref: GARD:7904 {source="Orphanet:461"} xref: ICD10CM:Q80.1 {source="Orphanet:461/e", source="Orphanet:461/specific", source="DOID:1700", source="Orphanet:461"} xref: MedDRA:10048063 {source="Orphanet:461/e", source="Orphanet:461"} xref: MESH:D016114 {source="Orphanet:461/e", source="DOID:1700", source="Orphanet:461"} @@ -208116,7 +212105,7 @@ id: MONDO:0010626 name: hyper-IgM syndrome type 1 def: "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." [Wikipedia:Hyper-IgM_syndrome_type_1] comment: This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. {source="Wikipedia:Hyper-IgM_syndrome_type_1"} -subset: gard_rare +subset: gard_rare {source="GARD:73"} subset: ordo_clinical_subtype {source="Orphanet:101088"} synonym: "CD40 ligand deficiency" RELATED [NCIT:C61244] synonym: "HIGM" RELATED ABBREVIATION [GARD:0000073] @@ -208144,6 +212133,7 @@ synonym: "XHIGM" EXACT ABBREVIATION [Orphanet:101088] synonym: "XHIM" RELATED ABBREVIATION [GARD:0000073] xref: DOID:0060022 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:6620 {source="MONDO:equivalentTo"} +xref: GARD:73 {source="Orphanet:101088"} xref: ICD10CM:D80.5 {source="Orphanet:101088", source="Orphanet:101088/attributed", source="Orphanet:101088/ntbt"} xref: NCIT:C61244 {source="MONDO:equivalentTo"} xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="Orphanet:101088/e", source="GARD:0000073"} @@ -208164,7 +212154,7 @@ id: MONDO:0010627 name: X-linked lymphoproliferative syndrome def: "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." [Orphanet:2442] comment: Editor note: two OMIMPS -subset: gard_rare +subset: gard_rare {source="GARD:10915"} subset: ordo_disease {source="Orphanet:2442"} subset: prototype_pattern synonym: "Duncan disease" EXACT [Orphanet:2442] @@ -208181,6 +212171,7 @@ synonym: "X-linked lymphoproliferative syndrome type 1" NARROW [DOID:0060705, MO synonym: "XLP" EXACT ABBREVIATION [Orphanet:2442] synonym: "XLP1" NARROW ABBREVIATION [DOID:0060705] xref: DOID:0060705 {source="MONDO:equivalentTo"} +xref: GARD:10915 {source="Orphanet:2442"} xref: ICD10CM:D82.3 {source="Orphanet:2442", source="Orphanet:2442/e", source="DOID:0060705", source="Orphanet:2442/specific"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068348 {source="Orphanet:2442", source="Orphanet:2442/e"} @@ -208225,6 +212216,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010631 name: incontinentia pigmenti def: "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." [Orphanet:464] +subset: gard_rare {source="GARD:6778"} subset: ordo_malformation_syndrome {source="Orphanet:464"} synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464] synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464] @@ -208239,6 +212231,7 @@ synonym: "IP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308300] synonym: "IP2 (formerly)" RELATED [GARD:0006778] xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"} xref: EFO:1000672 {source="MONDO:equivalentTo"} +xref: GARD:6778 {source="Orphanet:464"} xref: ICD10CM:Q82.3 {source="Orphanet:464/specific", source="DOID:12305", source="Orphanet:464/e", source="Orphanet:464"} xref: MESH:D007184 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"} @@ -208265,6 +212258,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010632 name: developmental and epileptic encephalopathy, 1 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15298"} synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE1" EXACT ABBREVIATION [OMIM:308350] synonym: "developmental and epileptic encephalopathy 1, X-linked recessive" EXACT [OMIM:308350, OMIM:genemap2] @@ -208279,6 +212273,7 @@ synonym: "Ohtahara syndrome, X-linked" RELATED [OMIM:308350] synonym: "West syndrome, X-linked" RELATED [OMIM:308350] synonym: "XMESID" RELATED ABBREVIATION [OMIM:308350] xref: DOID:0080468 {source="MONDO:equivalentTo"} +xref: GARD:15298 {source="OMIM:308350"} xref: OMIM:308350 {source="MONDO:equivalentTo"} xref: UMLS:C3463992 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:308350"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome @@ -208292,7 +212287,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010633 name: iris hypoplasia with glaucoma -subset: gard_rare synonym: "IHG" RELATED ABBREVIATION [GARD:0009171, MESH:C535538, MONDO:Lexical, OMIM:308500] synonym: "iris hypoplasia and glaucoma" RELATED [GARD:0009171] synonym: "iris hypoplasia with glaucoma" EXACT [MESH:C535538, MONDO:Lexical, OMIM:308500] @@ -208317,7 +212311,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010635 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." [NCIT:C75480] -subset: gard_rare +subset: gard_rare {source="GARD:3071"} synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "anosmic hypogonadism" RELATED [OMIM:308700] synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700] @@ -208333,6 +212327,7 @@ synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071] synonym: "Kallmann syndrome, X-linked" RELATED [GARD:0003071] synonym: "KMS" RELATED ABBREVIATION [OMIM:308700] xref: DOID:0090094 {source="MONDO:equivalentTo"} +xref: GARD:3071 {source="OMIM:308700"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090094"} xref: NCIT:C75480 {source="MONDO:equivalentTo"} xref: OMIM:308700 {source="MONDO:equivalentTo", source="GARD:0003071", source="DOID:0090094"} @@ -208359,6 +212354,7 @@ is_a: MONDO:0003847 {source="MESH:C536873/inferred"} ! hereditary disease [Term] id: MONDO:0010637 name: keratosis follicularis spinulosa decalvans, X-linked +subset: gard_rare {source="GARD:15299"} synonym: "keratosis follicularis spinulosa decalvans" RELATED [MESH:C536159] synonym: "keratosis follicularis Spinulosa decalvans cum Ophiasi" RELATED [OMIM:308800] synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" RELATED [MESH:C536159] @@ -208368,6 +212364,7 @@ synonym: "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessi synonym: "KFSDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308800] synonym: "Kfsdx" RELATED [MESH:C536159] xref: DOID:0080754 {source="MONDO:equivalentTo"} +xref: GARD:15299 {source="OMIM:308800"} xref: MESH:C536159 {source="MONDO:equivalentTo"} xref: OMIM:308800 {source="MONDO:equivalentTo"} xref: Orphanet:2340 {source="OMIM:308800"} @@ -208381,12 +212378,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010638 name: keratosis follicularis-dwarfism-cerebral atrophy syndrome def: "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." [Orphanet:2339] -subset: gard_rare +subset: gard_rare {source="GARD:3099"} subset: ordo_malformation_syndrome {source="Orphanet:2339"} synonym: "dwarfism, cerebral atrophy and generalised keratosis follicularis" RELATED OMO:0003005 [] synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099] synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099] synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830] +xref: GARD:3099 {source="Orphanet:2339"} xref: ICD10CM:Q87.1 {source="Orphanet:2339", source="Orphanet:2339/attributed", source="Orphanet:2339/ntbt"} xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e"} xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"} @@ -208403,10 +212401,12 @@ id: MONDO:0010639 name: laryngeal abductor paralysis-intellectual disability syndrome def: "Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." [Orphanet:2375] comment: X linked version based on information from Joanna. {source="OMIM:308850"} +subset: gard_rare {source="GARD:16597"} subset: ordo_malformation_syndrome {source="Orphanet:2375"} synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850] synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850] +xref: GARD:16597 {source="Orphanet:2375"} xref: ICD10CM:J38.0 {source="Orphanet:2375", source="Orphanet:2375/attributed", source="Orphanet:2375/ntbt"} xref: OMIM:308850 {source="Orphanet:2375", source="MONDO:equivalentTo", source="Orphanet:2375/e"} xref: Orphanet:2375 {source="MONDO:equivalentTo", source="OMIM:308850"} @@ -208422,12 +212422,14 @@ property_value: confidence "0.11999999999999988" xsd:double [Term] id: MONDO:0010640 name: Leber optic atrophy, susceptibility to +subset: gard_rare {source="GARD:15300"} subset: predisposition synonym: "Leber hereditary optic neuropathy, modifier of" RELATED [OMIM:308905] synonym: "Leber hereditary optic neuropathy, modifier of, X-linked dominant" EXACT [OMIM:308905, OMIM:genemap2] synonym: "Leber optic atrophy, susceptibility to" EXACT [OMIM:308905] synonym: "Lhon, modifier of" RELATED [OMIM:308905] synonym: "Loas" RELATED [OMIM:308905] +xref: GARD:15300 {source="OMIM:308905"} xref: OMIM:308905 {source="MONDO:equivalentTo"} xref: Orphanet:104 {source="OMIM:308905"} xref: UMLS:C1839891 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:308905"} @@ -208442,6 +212444,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010641 name: X-linked diffuse leiomyomatosis-Alport syndrome def: "A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females." [Orphanet:1018] +subset: gard_rare {source="GARD:2432"} subset: ordo_disease {source="Orphanet:1018"} synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940] synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432] @@ -208452,6 +212455,7 @@ synonym: "DL-ATS" RELATED [MONDO:Lexical, OMIM:308940] synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, OMIM:308940] synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940] synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018] +xref: GARD:2432 {source="Orphanet:1018"} xref: ICD10CM:Q87.8 {source="Orphanet:1018", source="Orphanet:1018/attributed", source="Orphanet:1018/ntbt"} xref: MESH:C537113 {source="MONDO:equivalentTo"} xref: OMIM:308940 {source="MONDO:equivalentTo", source="Orphanet:1018", source="Orphanet:1018/e"} @@ -208513,9 +212517,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0010644 name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations +subset: gard_rare {source="GARD:15301"} synonym: "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" EXACT [OMIM:308990] synonym: "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" EXACT [OMIM:308990, OMIM:genemap2] xref: DOID:0111815 {source="MONDO:equivalentTo"} +xref: GARD:15301 {source="OMIM:308990"} xref: MESH:C545036 {source="MONDO:equivalentTo"} xref: OMIM:308990 {source="MONDO:equivalentTo"} xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:308990"} @@ -208530,6 +212536,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010645 name: oculocerebrorenal syndrome def: "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534] +subset: gard_rare {source="GARD:3295"} subset: ordo_malformation_syndrome {source="Orphanet:534"} synonym: "Lowe disease" EXACT [Orphanet:534] synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534] @@ -208547,6 +212554,7 @@ synonym: "oculocerebrorenal syndrome of Lowe" EXACT [DOID:1056] synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [Orphanet:534] synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000] xref: DOID:1056 {source="MONDO:equivalentTo"} +xref: GARD:3295 {source="Orphanet:534"} xref: ICD10CM:E72.0 {source="Orphanet:534/ntbt", source="Orphanet:534", source="Orphanet:534/inclusion"} xref: ICD10CM:E72.03 {source="DOID:1056"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -208582,6 +212590,7 @@ relationship: has_characteristic HP:0001417 ! X-linked inheritance id: MONDO:0010647 name: spermatogenic failure, X-linked, 2 def: "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15302"} synonym: "azoospermia caused by mutation in TEX11" EXACT [MONDO:design_pattern] synonym: "Male infertility from defect in meiosis" RELATED [OMIM:309120] synonym: "spermatogenic failure, X-linked, 2" EXACT [MONDO:Lexical, OMIM:309120] @@ -208590,6 +212599,7 @@ synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1, OMIM:3091 synonym: "SPGFX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309120] synonym: "TEX11 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070185 {source="MONDO:equivalentTo"} +xref: GARD:15302 {source="OMIM:309120"} xref: OMIM:309120 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:309120"} xref: UMLS:C1839841 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:309120"} @@ -208625,6 +212635,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010649 name: isolated congenital megalocornea def: "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." [Orphanet:91489] +subset: gard_rare {source="GARD:12648"} subset: ordo_morphological_anomaly {source="Orphanet:91489"} synonym: "congenital anterior megalophthalmia" EXACT [Orphanet:91489] synonym: "isolated congenital megalocornea" EXACT CLINGEN_PREFERRED [] @@ -208632,6 +212643,7 @@ synonym: "megalocornea" RELATED [MONDO:Lexical, OMIM:309300] synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [OMIM:309300, OMIM:genemap2] synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309300] synonym: "Mgcn" RELATED [OMIM:309300] +xref: GARD:12648 {source="Orphanet:91489"} xref: ICD10CM:Q15.8 {source="Orphanet:91489", source="Orphanet:91489/attributed", source="Orphanet:91489/ntbt"} xref: OMIM:309300 {source="MONDO:equivalentTo", source="Orphanet:91489", source="Orphanet:91489/e"} xref: Orphanet:91489 {source="MONDO:equivalentTo", source="OMIM:309300"} @@ -208647,7 +212659,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010650 name: Melnick-Needles syndrome def: "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." [Orphanet:2484] -subset: gard_rare {source="GARD:0007011"} +subset: gard_rare {source="GARD:7011"} subset: ordo_malformation_syndrome {source="Orphanet:2484"} synonym: "Melnick-Needles osteodysplasty" EXACT [OMIM:309350, Orphanet:2484] synonym: "MELNICK-NEEDLES syndrome" RELATED [OMIM:309350] @@ -208656,6 +212668,7 @@ synonym: "Melnick-Needles syndrome, X-linked dominant" EXACT [OMIM:309350, OMIM: synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309350] synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350] xref: DOID:0111788 {source="MONDO:equivalentTo"} +xref: GARD:7011 {source="Orphanet:2484"} xref: ICD10CM:Q77.8 {source="Orphanet:2484", source="Orphanet:2484/attributed", source="Orphanet:2484/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060908 {source="Orphanet:2484", source="Orphanet:2484/e"} @@ -208680,7 +212693,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7011/melnick id: MONDO:0010651 name: Menkes disease def: "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:565] -subset: gard_rare {source="GARD:0001521"} +subset: gard_rare {source="GARD:1521"} subset: ordo_disease {source="Orphanet:565"} synonym: "copper transport disease" BROAD [DOID:1838, OMIM:309400] synonym: "kinky hair disease" EXACT [Orphanet:565] @@ -208699,6 +212712,7 @@ synonym: "steely hair syndrome" EXACT [DOID:1838, Orphanet:565] synonym: "Trichopoliodystrophy" EXACT [Orphanet:565] synonym: "X-linked copper deficiency" EXACT [Orphanet:565] xref: DOID:1838 {source="MONDO:equivalentTo"} +xref: GARD:1521 {source="Orphanet:565"} xref: ICD10CM:E83.0 {source="Orphanet:565", source="Orphanet:565/ntbt", source="Orphanet:565/inclusion"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027294 {source="Orphanet:565", source="Orphanet:565/e"} @@ -208724,6 +212738,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1521/menkes- id: MONDO:0010652 name: X-linked intellectual disability-seizures-psoriasis syndrome def: "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." [Orphanet:3052] +subset: gard_rare {source="GARD:5238"} subset: ordo_disease {source="Orphanet:3052"} synonym: "intellectual disability and psoriasis" RELATED [OMIM:309480] synonym: "intellectual disability X-linked, Tranebjaerg type seizures and psoriasis" RELATED [GARD:0005238] @@ -208734,6 +212749,7 @@ synonym: "Tranebjaerg-Svejgaard syndrome" EXACT [Orphanet:3052] synonym: "X-linked intellectual disability - seizures - psoriasis" RELATED [GARD:0005238] synonym: "X-linked intellectual disability associated with psoriasis" RELATED [GARD:0005238] synonym: "X-linked mental retardation associated with psoriasis" RELATED DEPRECATED [GARD:0005238] +xref: GARD:5238 {source="Orphanet:3052"} xref: ICD10CM:Q87.8 {source="Orphanet:3052/attributed", source="Orphanet:3052/ntbt", source="Orphanet:3052"} xref: MESH:C536978 {source="MONDO:equivalentTo"} xref: OMIM:309480 {source="Orphanet:3052/e", source="MONDO:equivalentTo", source="Orphanet:3052"} @@ -208750,6 +212766,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010653 name: Renpenning syndrome def: "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature." [Orphanet:3242] +subset: gard_rare {source="GARD:9509"} subset: ordo_malformation_syndrome {source="Orphanet:3242"} synonym: "Golabi-Ito-Hall syndrome" EXACT [DOID:0060179, OMIM:309500] synonym: "intellectual disability, X-linked 55" RELATED [OMIM:309500] @@ -208785,6 +212802,7 @@ synonym: "X-linked mental retardation Renpenning type" EXACT DEPRECATED [DOID:00 synonym: "X-linked mental retardation syndromic 3" RELATED DEPRECATED [GARD:0009509] synonym: "X-linked mental retardation with spastic diplegia" EXACT DEPRECATED [DOID:0060179] xref: DOID:0060179 {source="MONDO:equivalentTo"} +xref: GARD:9509 {source="Orphanet:3242"} xref: ICD10CM:Q87.5 {source="DOID:0060179", source="Orphanet:3242/attributed", source="Orphanet:3242/ntbt", source="Orphanet:3242"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537761 {source="MONDO:equivalentTo"} @@ -208812,6 +212830,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010654 name: Partington syndrome def: "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." [GARD:0004235] +subset: gard_rare {source="GARD:4235"} subset: ordo_malformation_syndrome {source="Orphanet:94083"} synonym: "intellectual disability, X-linked 36" RELATED [OMIM:309510] synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235, OMIM:309510] @@ -208830,6 +212849,7 @@ synonym: "PRTS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510] synonym: "X-linked intellectual disability-dystonia-dysarthria syndrome" EXACT [Orphanet:94083] synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744] xref: DOID:14744 {source="MONDO:equivalentTo"} +xref: GARD:4235 {source="Orphanet:94083"} xref: MESH:C562446 {source="DOID:14744"} xref: OMIM:309510 {source="Orphanet:94083/e", source="MONDO:equivalentTo", source="Orphanet:94083", source="DOID:14744"} xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"} @@ -208847,6 +212867,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010655 name: X-linked intellectual disability with marfanoid habitus def: "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." [Orphanet:776] +subset: gard_rare {source="GARD:3307"} subset: ordo_malformation_syndrome {source="Orphanet:776"} synonym: "intellectual disability, X-linked, with Marfanoid habitus" RELATED [OMIM:309520] synonym: "Lujan syndrome" EXACT [Orphanet:776] @@ -208856,6 +212877,7 @@ synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [OMIM:309520, OMIM:gen synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307] synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [OMIM:309520] xref: DOID:0080985 {source="MONDO:equivalentTo"} +xref: GARD:3307 {source="Orphanet:776"} xref: ICD10CM:Q87.8 {source="Orphanet:776/attributed", source="Orphanet:776/ntbt", source="Orphanet:776"} xref: MESH:C537724 {source="MONDO:equivalentTo"} xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="Orphanet:776/e"} @@ -208874,6 +212896,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010656 name: intellectual disability, X-linked 1 def: "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." [NCIT:C133729] +subset: gard_rare {source="GARD:22699"} synonym: "intellectual developmental disorder, X-linked 1, X-linked dominant" EXACT [OMIM:309530, OMIM:genemap2] synonym: "intellectual disability, X-linked 1" EXACT CLINGEN_PREFERRED [] synonym: "IQSEC2" RELATED ABBREVIATION [GARD:0013221] @@ -208890,6 +212913,7 @@ synonym: "X-linked intellectual disability 1" RELATED [GARD:0013221] synonym: "X-linked intellectual disability 1/78" RELATED [GARD:0013221] synonym: "X-linked intellectual disability 78" RELATED [GARD:0013221] xref: DOID:0112038 {source="MONDO:equivalentTo"} +xref: GARD:22699 {source="OMIM:309530"} xref: MESH:C564489 {source="MONDO:equivalentTo"} xref: MESH:C567906 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: NCIT:C133729 {source="MONDO:equivalentTo"} @@ -208904,6 +212928,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010657 name: methylmalonic acidemia with homocystinuria, type cblX +subset: gard_rare {source="GARD:13137"} subset: ordo_clinical_subtype {source="Orphanet:369962"} synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [Orphanet:369962] synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137, OMIM:309541] @@ -208913,6 +212938,7 @@ synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:3 synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [OMIM:309541, OMIM:genemap2] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962] xref: DOID:0111814 {source="MONDO:equivalentTo"} +xref: GARD:13137 {source="Orphanet:369962"} xref: ICD10CM:E71.1 {source="Orphanet:369962", source="Orphanet:369962/attributed", source="Orphanet:369962/ntbt"} xref: MESH:C563136 {source="MONDO:equivalentTo"} xref: OMIM:309541 {source="Orphanet:369962", source="MONDO:equivalentTo", source="Orphanet:369962/e"} @@ -208928,6 +212954,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010658 name: syndromic X-linked intellectual disability 12 def: "X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome." [Orphanet:85290] +subset: gard_rare {source="GARD:16747"} subset: ordo_malformation_syndrome {source="Orphanet:85290"} synonym: "intellectual disability, X-linked, syndromic 12" EXACT [DOID:0060804, MONDO:Lexical, OMIM:309545] synonym: "mental retardation, X-linked, syndromic 12" EXACT DEPRECATED [DOID:0060804, MONDO:Lexical, OMIM:309545] @@ -208935,6 +212962,7 @@ synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical, OMIM:309545] synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2] synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804] xref: DOID:0060804 {source="MONDO:equivalentTo"} +xref: GARD:16747 {source="Orphanet:85290"} xref: ICD10CM:Q87.8 {source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/attributed", source="Orphanet:85290/ntbt"} xref: MESH:C564106 {source="MONDO:equivalentTo"} xref: OMIM:309545 {source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/e"} @@ -208949,7 +212977,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010659 name: FRAXE intellectual disability def: "A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." [Orphanet:100973] -subset: gard_rare +subset: gard_rare {source="GARD:2378"} subset: ordo_disease {source="Orphanet:100973"} synonym: "fragile site, folic acid type" RELATED [GARD:0002378] synonym: "fragile XE syndrome" RELATED [GARD:0002378] @@ -208964,6 +212992,7 @@ synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELA synonym: "X-linked intellectual disability associated with fragile site FRAXE" RELATED [GARD:0002378] synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED DEPRECATED [GARD:0002378] xref: DOID:0080984 {source="MONDO:equivalentTo"} +xref: GARD:2378 {source="Orphanet:100973"} xref: OMIM:309548 {source="GARD:0002378", source="MONDO:equivalentTo", source="Orphanet:100973", source="Orphanet:100973/e"} xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"} xref: SCTID:716709002 {source="MONDO:equivalentTo"} @@ -208980,6 +213009,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2378/fragile id: MONDO:0010660 name: intellectual disability, X-linked 9 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22700"} synonym: "FTSJ1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, X-linked 9, X-linked recessive" EXACT [OMIM:309549, OMIM:genemap2] synonym: "intellectual disability, X-linked 44" RELATED [OMIM:309549] @@ -208991,6 +213021,7 @@ synonym: "mental retardation, X-linked type 9" EXACT DEPRECATED [MONDORULE:1, OM synonym: "MRX9" RELATED DEPRECATED [MONDO:Lexical, OMIM:309549] synonym: "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" EXACT [MONDO:design_pattern] xref: DOID:0112034 {source="MONDO:equivalentTo"} +xref: GARD:22700 {source="OMIM:309549"} xref: MESH:C563137 {source="MONDO:equivalentTo"} xref: OMIM:309549 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:309549"} @@ -209006,6 +213037,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010661 name: severe X-linked intellectual disability, Gustavson type def: "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." [Orphanet:3078] +subset: gard_rare {source="GARD:5611"} subset: ordo_malformation_syndrome {source="Orphanet:3078"} synonym: "gust" RELATED [GARD:0005611] synonym: "Gustavson syndrome" RELATED [OMIM:309555] @@ -209016,6 +213048,7 @@ synonym: "mental retardation X-linked severe Gustavson type" RELATED DEPRECATED synonym: "X-linked intellectual disability Gustavson type" RELATED [GARD:0005611] synonym: "X-linked mental retardation Gustavson type" RELATED DEPRECATED [GARD:0005611] xref: DOID:0081123 {source="MONDO:equivalentTo"} +xref: GARD:5611 {source="Orphanet:3078"} xref: MESH:C536759 {source="MONDO:equivalentTo"} xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="Orphanet:3078/e"} xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"} @@ -209029,10 +213062,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010662 name: paraplegia-intellectual disability-hyperkeratosis syndrome def: "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." [Orphanet:2824] +subset: gard_rare {source="GARD:2344"} subset: ordo_malformation_syndrome {source="Orphanet:2824"} synonym: "Fitzsimmons-McLachlan-Gilbert syndrome" EXACT [Orphanet:2824] synonym: "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [OMIM:309560] synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [OMIM:309560] +xref: GARD:2344 {source="Orphanet:2824"} xref: MESH:C537058 {source="MONDO:equivalentTo"} xref: OMIM:309560 {source="Orphanet:2824/e", source="MONDO:equivalentTo", source="Orphanet:2824"} xref: Orphanet:2824 {source="MONDO:equivalentTo", source="OMIM:309560"} @@ -209047,7 +213082,7 @@ id: MONDO:0010663 name: intellectual disability-hypotonic facies syndrome, X-linked, 1 def: "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." [https://orcid.org/0000-0001-5208-3432, Orphanet:73220] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:3521"} subset: ordo_group_of_disorders {source="Orphanet:73220"} subset: ordo_malformation_syndrome {source="Orphanet:93971", source="Orphanet:93973", source="Orphanet:93974"} synonym: "Carpenter-Waziri syndrome" EXACT [OMIM:309580] @@ -209084,6 +213119,7 @@ synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED DEPRECA synonym: "X-linked intellectual disability-hypotonic face syndrome" EXACT [Orphanet:73220] synonym: "XLMR-hypotonic facies syndrome" EXACT [OMIM:309580] xref: DOID:0080982 {source="MONDO:equivalentTo"} +xref: GARD:3521 {source="OMIM:309580"} xref: MESH:C537445 {source="MONDO:equivalentTo"} xref: OMIM:309580 {source="Orphanet:73220", source="Orphanet:93971/ntbt", source="Orphanet:93971", source="MONDO:equivalentTo", source="Orphanet:93973", source="Orphanet:73220/e", source="Orphanet:93974", source="GARD:0000081", source="Orphanet:93974/ntbt", source="Orphanet:93973/ntbt"} xref: Orphanet:73220 {source="MONDO:equivalentObsolete", source="MONDO:preferredExternal", source="OMIM:309580"} @@ -209111,6 +213147,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010664 name: syndromic X-linked intellectual disability Snyder type def: "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." [Orphanet:3063] +subset: gard_rare {source="GARD:5615"} subset: ordo_disease {source="Orphanet:3063"} synonym: "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" EXACT [OMIM:309583, OMIM:genemap2] synonym: "intellectual disability, X-linked, Snyder-Robinson type" EXACT [DOID:0060802] @@ -209128,6 +213165,7 @@ synonym: "X-linked intellectual disability Snyder-Robinson type" RELATED [GARD:0 synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063] synonym: "X-linked mental retardation Snyder-Robinson type" RELATED DEPRECATED [GARD:0005615] xref: DOID:0060802 {source="MONDO:equivalentTo"} +xref: GARD:5615 {source="Orphanet:3063"} xref: ICD10CM:Q87.8 {source="Orphanet:3063/attributed", source="Orphanet:3063/ntbt", source="DOID:0060802", source="Orphanet:3063"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536678 {source="MONDO:equivalentTo"} @@ -209147,7 +213185,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010665 name: Wilson-Turner syndrome def: "A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." [Orphanet:3459] -subset: gard_rare {source="GARD:0005579"} +subset: gard_rare {source="GARD:5579"} subset: ordo_malformation_syndrome {source="Orphanet:3459"} synonym: "intellectual disability, X-linked, syndromic 6" EXACT [DOID:0060814] synonym: "intellectual disability, X-linked, syndromic 6 (formerly)" RELATED [GARD:0005579] @@ -209167,6 +213205,7 @@ synonym: "WTS" EXACT ABBREVIATION [DOID:0060814, MONDO:Lexical, OMIM:309585, Orp synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GARD:0005579] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459] xref: DOID:0060814 {source="MONDO:equivalentTo"} +xref: GARD:5579 {source="Orphanet:3459"} xref: MESH:C536708 {source="MONDO:equivalentTo"} xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="Orphanet:3459/e", source="DOID:0060814"} xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"} @@ -209195,6 +213234,7 @@ replaced_by: MONDO:0010758 id: MONDO:0010667 name: Prieto syndrome def: "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." [Orphanet:2958] +subset: gard_rare {source="GARD:4482"} subset: ordo_malformation_syndrome {source="Orphanet:2958"} synonym: "intellectual disability, X-linked, syndromic 2" RELATED [OMIM:309610] synonym: "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy" RELATED [OMIM:309610] @@ -209208,6 +213248,7 @@ synonym: "Prieto-Badia-Mulas syndrome" EXACT [DOID:0060805, Orphanet:2958] synonym: "PRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610] synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805] xref: DOID:0060805 {source="MONDO:equivalentTo"} +xref: GARD:4482 {source="Orphanet:2958"} xref: MESH:C535274 {source="MONDO:equivalentTo"} xref: OMIM:309610 {source="Orphanet:2958/e", source="MONDO:equivalentTo", source="Orphanet:2958", source="DOID:0060805"} xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source="DOID:0060805"} @@ -209224,7 +213265,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010668 name: skeletal dysplasia-intellectual disability syndrome def: "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." [Orphanet:1436] -subset: gard_rare +subset: gard_rare {source="GARD:3520"} subset: ordo_malformation_syndrome {source="Orphanet:1436"} synonym: "Christian syndrome" EXACT [GARD:0003520, OMIM:309620, Orphanet:1436] synonym: "intellectual disability skeletal dysplasia abducens palsy" RELATED [GARD:0003520] @@ -209234,6 +213275,7 @@ synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED DE synonym: "mental retardation-skeletal dysplasia" EXACT [OMIM:309620, OMIM:genemap2] synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436] +xref: GARD:3520 {source="Orphanet:1436"} xref: ICD10CM:Q87.5 {source="Orphanet:1436", source="Orphanet:1436/attributed", source="Orphanet:1436/ntbt"} xref: MESH:C564101 {source="MONDO:equivalentTo"} xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="Orphanet:1436", source="Orphanet:1436/e"} @@ -209252,7 +213294,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3520/mental- id: MONDO:0010669 name: syndactyly type 8 def: "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." [Orphanet:2498] -subset: gard_rare +subset: gard_rare {source="GARD:3559"} subset: ordo_morphological_anomaly {source="Orphanet:2498"} synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498] @@ -209262,6 +213304,7 @@ synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559] synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309630] synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern] xref: DOID:0111813 {source="MONDO:equivalentTo"} +xref: GARD:3559 {source="Orphanet:2498"} xref: ICD10CM:Q70.0 {source="Orphanet:2498", source="Orphanet:2498/attributed", source="Orphanet:2498/ntbt"} xref: MESH:C564100 {source="MONDO:equivalentTo"} xref: OMIM:309630 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="Orphanet:2498/e"} @@ -209293,7 +213336,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010671 name: microphthalmia, syndromic 1 -subset: gard_rare +subset: gard_rare {source="GARD:15304", source="GARD:5066"} subset: ordo_malformation_syndrome {source="Orphanet:85275"} synonym: "ANOP1, formerly" EXACT [OMIM:301590] synonym: "Lenz dysplasia" EXACT [OMIM:309800] @@ -209310,6 +213353,8 @@ synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:3015 synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1, OMIM:309800] synonym: "syndromic microphthalmia type 4" EXACT [GARD:0005066, Orphanet:85275] xref: DOID:0111799 {source="MONDO:equivalentTo"} +xref: GARD:15304 {source="OMIM:309800"} +xref: GARD:5066 {source="Orphanet:85275"} xref: ICD10CM:Q11.2 {source="Orphanet:85275/attributed", source="Orphanet:85275/ntbt", source="Orphanet:85275"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537464 {source="MONDO:equivalentTo"} @@ -209335,7 +213380,7 @@ id: MONDO:0010672 name: linear skin defects with multiple congenital anomalies def: "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome] comment: Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. {source="MONDO:DC"} -subset: gard_rare {source="GARD:0003659"} +subset: gard_rare {source="GARD:3659"} subset: ordo_malformation_syndrome {source="Orphanet:2556"} synonym: "linear skin defects with multiple congenital anomalies" EXACT [OMIMPS:309801] synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical, OMIM:309801] @@ -209350,6 +213395,7 @@ synonym: "MIDAS syndrome" EXACT [Orphanet:2556] synonym: "MLS syndrome" EXACT [Orphanet:2556] synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556] xref: DOID:0111875 {source="MONDO:equivalentTo"} +xref: GARD:3659 {source="Orphanet:2556"} xref: ICD10CM:Q11.2 {source="Orphanet:2556", source="Orphanet:2556/attributed", source="Orphanet:2556/ntbt"} xref: MESH:C537466 {source="MONDO:equivalentTo"} xref: OMIMPS:309801 {source="MONDO:equivalentTo"} @@ -209378,6 +213424,7 @@ is_a: MONDO:0003847 {source="MESH:C564098/inferred"} ! hereditary disease id: MONDO:0010674 name: mucopolysaccharidosis type 2 def: "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." [Orphanet:580] +subset: gard_rare {source="GARD:6675", source="GARD:19016"} subset: ordo_disease {source="Orphanet:580"} synonym: "attenuated MPS (subtype; formerly known as mild MPS II)" EXACT [GARD:0006675] synonym: "deficiency of iduronate-2-sulphatase" EXACT [DOID:12799] @@ -209404,6 +213451,8 @@ synonym: "severe MPS II" EXACT [GARD:0006675] synonym: "SIDS deficiency" EXACT [OMIM:309900] synonym: "sulfoiduronate sulfatase deficiency" EXACT [OMIM:309900] xref: DOID:12799 {source="MONDO:equivalentTo"} +xref: GARD:19016 {source="Orphanet:79388"} +xref: GARD:6675 {source="Orphanet:580"} xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580/specific", source="Orphanet:580", source="Orphanet:580/e"} xref: MedDRA:10056889 {source="Orphanet:580", source="Orphanet:580/e"} xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} @@ -209472,7 +213521,7 @@ is_a: MONDO:0020121 {source="DC-OMIM:310095", source="MESH:C564095"} ! muscular id: MONDO:0010679 name: Duchenne muscular dystrophy def: "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98896] -subset: gard_rare {source="GARD:0006291"} +subset: gard_rare {source="GARD:6291"} subset: ordo_disease {source="Orphanet:98896"} synonym: "DMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310200, Orphanet:98896] synonym: "Duchenne muscular dystrophy" EXACT CLINGEN_PREFERRED [OMIM:310200] @@ -209482,6 +213531,7 @@ synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical, OMIM:310200 synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [OMIM:310200] synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896] xref: DOID:11723 {source="MONDO:equivalentTo"} +xref: GARD:6291 {source="Orphanet:98896"} xref: ICD10CM:G71.0 {source="Orphanet:98896/ntbt", source="Orphanet:98896", source="Orphanet:98896/inclusion"} xref: MedDRA:10013801 {source="Orphanet:98896", source="Orphanet:98896/e"} xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} @@ -209506,12 +213556,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6291/duchenn id: MONDO:0010680 name: X-linked Emery-Dreifuss muscular dystrophy def: "X-linked form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:2102"} subset: ordo_etiological_subtype {source="Orphanet:98863"} synonym: "Emerinopathy" EXACT [Orphanet:98863] synonym: "Emery-Dreifuss muscular dystrophy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "muscular dystrophy, tardive Emery-Dreifuss type, with contractures" RELATED [GARD:0002102] synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" RELATED [DOID:0070246] synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_PREFERRED [] +xref: GARD:2102 {source="Orphanet:98863"} xref: ICD10CM:G71.0 {source="Orphanet:98863/attributed", source="Orphanet:98863/ntbt", source="Orphanet:98863"} xref: MESH:D000083143 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: OMIM:310300 {source="MONDO:relatedTo", source="Orphanet:98863", source="DOID:0070246", source="Orphanet:98863/e"} @@ -209555,6 +213607,7 @@ consider: MONDO:0016022 id: MONDO:0010683 name: X-linked myotubular myopathy def: "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure." [Orphanet:596] +subset: gard_rare {source="GARD:11925"} subset: ordo_disease {source="Orphanet:596"} synonym: "centronuclear myopathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "CNMX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310400] @@ -209568,6 +213621,7 @@ synonym: "X-linked myotubular myopathy" EXACT [https://orcid.org/0000-0002-7437- synonym: "XLCNM" EXACT ABBREVIATION [Orphanet:596] synonym: "XLMTM" EXACT ABBREVIATION [Orphanet:596] xref: DOID:0111225 {source="MONDO:equivalentTo"} +xref: GARD:11925 {source="Orphanet:596"} xref: ICD10CM:G71.2 {source="Orphanet:596/ntbt", source="Orphanet:596/inclusion", source="Orphanet:596"} xref: MESH:C538647 {source="Orphanet:596/e", source="Orphanet:596"} xref: NCIT:C118781 {source="MONDO:equivalentTo"} @@ -209590,7 +213644,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010684 name: X-linked myopathy with excessive autophagy def: "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings." [Orphanet:25980] -subset: gard_rare {source="GARD:0003892"} +subset: gard_rare {source="GARD:3892"} subset: ordo_disease {source="Orphanet:25980"} synonym: "MEAX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310440] synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical, OMIM:310440] @@ -209598,6 +213652,7 @@ synonym: "myopathy, X-linked, with excessive autophagy, X-linked recessive" EXAC synonym: "vacuolar myopathy" EXACT [Orphanet:25980] synonym: "XMEA" EXACT ABBREVIATION [DOID:0050760, OMIM:310440, Orphanet:25980] xref: DOID:0050760 {source="MONDO:equivalentTo"} +xref: GARD:3892 {source="Orphanet:25980"} xref: ICD10CM:G71.8 {source="Orphanet:25980/attributed", source="Orphanet:25980/ntbt", source="Orphanet:25980"} xref: MESH:C536522 {source="MONDO:equivalentTo"} xref: OMIM:310440 {source="Orphanet:25980/e", source="MONDO:equivalentTo", source="Orphanet:25980"} @@ -209629,7 +213684,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010686 name: N syndrome def: "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." [Orphanet:2608] -subset: gard_rare {source="GARD:0003902"} +subset: gard_rare {source="GARD:3902"} subset: ordo_malformation_syndrome {source="Orphanet:2608"} synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902] @@ -209638,6 +213693,7 @@ synonym: "mental retardation, malformations, chromosome breakage, and developmen synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465] synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] xref: DOID:0050769 {source="MONDO:equivalentTo"} +xref: GARD:3902 {source="Orphanet:2608"} xref: ICD10CM:Q87.8 {source="Orphanet:2608/attributed", source="Orphanet:2608/ntbt", source="Orphanet:2608"} xref: MESH:C536108 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"} xref: OMIM:310465 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="DOID:0050769", source="Orphanet:2608"} @@ -209655,12 +213711,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3902/n-syndr id: MONDO:0010687 name: nephrolithiasis, X-linked recessive, with renal failure comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations +subset: gard_rare {source="GARD:15305"} synonym: "nephrolithiasis 1" RELATED [OMIM:310468] synonym: "nephrolithiasis, type i, X-linked recessive" EXACT [OMIM:310468, OMIM:genemap2] synonym: "nephrolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468] synonym: "nephrolithiasis, X-linked recessive, with renal failure" EXACT [MONDO:Lexical, OMIM:310468] synonym: "urolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468] synonym: "XRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310468] +xref: GARD:15305 {source="OMIM:310468"} xref: MESH:C562901 {source="MONDO:equivalentTo"} xref: OMIM:310468 {source="MONDO:equivalentTo"} xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:310468"} @@ -209688,6 +213746,7 @@ is_a: MONDO:0015364 {source="DC-OMIM:310470", source="DOID:0070159", source="MES id: MONDO:0010689 name: Charcot-Marie-Tooth disease X-linked recessive 4 def: "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." [Orphanet:101078] +subset: gard_rare {source="GARD:1240"} subset: ordo_disease {source="Orphanet:101078"} synonym: "axonal motor sensory neuropathy with deafness and intellectual disability" EXACT [DOID:0110212] synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212] @@ -209709,6 +213768,7 @@ synonym: "neuropathy, axonal motor-sensory, with deafness and intellectual disab synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED DEPRECATED [OMIM:310490] synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212] xref: DOID:0110212 {source="MONDO:equivalentTo"} +xref: GARD:1240 {source="Orphanet:101078"} xref: ICD10CM:G60.0 {source="Orphanet:101078", source="Orphanet:101078/attributed", source="Orphanet:101078/ntbt", source="DOID:0110212"} xref: OMIM:310490 {source="Orphanet:101078", source="MONDO:equivalentTo", source="Orphanet:101078/e", source="DOID:0110212"} xref: Orphanet:101078 {source="OMIM:310490", source="MONDO:equivalentTo", source="DOID:0110212"} @@ -209724,6 +213784,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010690 name: congenital stationary night blindness 1A def: "A congenital stationary night blindness caused by variants in the X-linked NYX gene." [https://clinicalgenome.org/affiliation/40072/] +subset: gard_rare {source="GARD:15306"} synonym: "complete CSNB X-linked" EXACT [DOID:0110870] synonym: "congenital stationary night blindness 1A" EXACT CLINGEN_PREFERRED [] synonym: "congenital stationary night blindness 1A X-linked" EXACT [DOID:0110870] @@ -209742,6 +213803,7 @@ synonym: "nyctalopia" RELATED [OMIM:310500] synonym: "NYX congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NYX-related congenital stationary night blindness" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/40072/] xref: DOID:0110870 {source="MONDO:equivalentTo"} +xref: GARD:15306 {source="OMIM:310500"} xref: OMIM:310500 {source="MONDO:equivalentTo", source="DOID:0110870"} xref: Orphanet:215 {source="OMIM:310500"} xref: UMLS:C0028077 {source="OMIM:310500"} @@ -209766,7 +213828,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010691 name: Norrie disease def: "A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." [Orphanet:649] -subset: gard_rare {source="GARD:0007224"} +subset: gard_rare {source="GARD:7224"} subset: ordo_malformation_syndrome {source="Orphanet:649"} synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224] synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] @@ -209783,6 +213845,7 @@ synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, Orphanet:649] synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224] synonym: "pseudoglioma" RELATED [GARD:0007224] xref: DOID:0060844 {source="MONDO:equivalentTo"} +xref: GARD:7224 {source="Orphanet:649"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/attributed", source="Orphanet:649/ntbt"} xref: ICD9:743.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069760 {source="Orphanet:649", source="Orphanet:649/e"} @@ -209813,7 +213876,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010693 name: nystagmus 1, congenital, X-linked def: "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0002969"} synonym: "congenital nystagmus caused by mutation in FRMD7" EXACT [MONDO:design_pattern] synonym: "FRMD7 congenital nystagmus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310700] @@ -209841,7 +213903,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2969/nystagm [Term] id: MONDO:0010694 name: nystagmus, myoclonic -subset: gard_rare {source="GARD:0009605"} synonym: "myoclonic nystagmus" RELATED [GARD:0009605] synonym: "nystagmus, myoclonic" EXACT [OMIM:310800] xref: MESH:C564088 {source="MONDO:equivalentTo"} @@ -209863,7 +213924,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010696 name: omphalocele, X-linked +subset: gard_rare {source="GARD:18587"} synonym: "omphalocele, X-linked" EXACT [OMIM:310980] +xref: GARD:18587 {source="OMIM:310980"} xref: OMIM:310980 {source="MONDO:equivalentTo"} xref: Orphanet:660 {source="OMIM:310980"} xref: UMLS:C3275625 {source="MONDO:equivalentTo", source="OMIM:310980"} @@ -209886,6 +213949,7 @@ is_a: MONDO:0003847 {source="MESH:C564087/inferred"} ! hereditary disease id: MONDO:0010698 name: optic atrophy 2 def: "A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." [Orphanet:98890] +subset: gard_rare {source="GARD:10199"} subset: ordo_disease {source="Orphanet:98890"} synonym: "non-Leber type optic atrophy with early-onset" EXACT [Orphanet:98890] synonym: "OPA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311050, Orphanet:98890] @@ -209895,6 +213959,7 @@ synonym: "optic atrophy type 2" EXACT [Orphanet:98890] synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050] synonym: "optic atrophy, X-linked" RELATED [OMIM:311050] xref: DOID:0111443 {source="MONDO:equivalentTo"} +xref: GARD:10199 {source="Orphanet:98890"} xref: ICD10CM:H47.2 {source="Orphanet:98890/attributed", source="Orphanet:98890/ntbt", source="Orphanet:98890"} xref: MESH:C537125 {source="MONDO:equivalentTo"} xref: OMIM:311050 {source="Orphanet:98890/e", source="MONDO:equivalentTo", source="Orphanet:98890"} @@ -209911,7 +213976,7 @@ id: MONDO:0010699 name: Charcot-Marie-Tooth disease X-linked recessive 5 def: "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." [Orphanet:99014] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:114"} subset: ordo_disease {source="Orphanet:99014"} synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [DOID:0110210, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5" EXACT [MONDO:Lexical, OMIM:311070] @@ -209928,6 +213993,7 @@ synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [G synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM:311070] synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210] xref: DOID:0110210 {source="MONDO:equivalentTo"} +xref: GARD:114 {source="Orphanet:99014"} xref: ICD10CM:G60.0 {source="Orphanet:99014/attributed", source="Orphanet:99014/ntbt", source="DOID:0110210", source="Orphanet:99014"} xref: OMIM:311070 {source="GARD:0000114", source="Orphanet:99014/e", source="MONDO:equivalentTo", source="DOID:0110210", source="Orphanet:99014"} xref: Orphanet:99014 {source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070", source="DOID:0110210"} @@ -209959,6 +214025,7 @@ replaced_by: MONDO:0010578 id: MONDO:0010702 name: orofaciodigital syndrome I def: "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." [Orphanet:2750] +subset: gard_rare {source="GARD:4121"} subset: ordo_malformation_syndrome {source="Orphanet:2750"} synonym: "OFD syndrome 1" EXACT [GARD:0004121] synonym: "OFD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311200, Orphanet:2750] @@ -209980,6 +214047,7 @@ synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750] synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} +xref: GARD:4121 {source="Orphanet:2750"} xref: ICD10CM:Q87.0 {source="Orphanet:2750/attributed", source="Orphanet:2750/ntbt", source="Orphanet:2750", source="DOID:0060316"} xref: MESH:C537134 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MESH:D009958 {source="DOID:0060316"} @@ -210014,6 +214082,7 @@ id: MONDO:0010703 name: ornithine carbamoyltransferase deficiency def: "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." [Orphanet:664] subset: clingen +subset: gard_rare {source="GARD:8391"} subset: ordo_disease {source="Orphanet:664"} synonym: "deficiency of citrulline phosphorylase" EXACT [DOID:9271] synonym: "OCT deficiency" EXACT [Orphanet:664] @@ -210026,6 +214095,7 @@ synonym: "OTCD" EXACT ABBREVIATION [GARD:0008391] synonym: "valproate sensitivity" RELATED [OMIM:311250] xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"} xref: EFO:0007409 {source="MONDO:equivalentTo"} +xref: GARD:8391 {source="Orphanet:664"} xref: ICD10CM:E72.4 {source="Orphanet:664", source="Orphanet:664/ntbt", source="DOID:9271", source="Orphanet:664/inclusion"} xref: MedDRA:10052450 {source="Orphanet:664", source="Orphanet:664/e"} xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e", source="EFO:0007409"} @@ -210046,6 +214116,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010704 name: otopalatodigital syndrome type 1 def: "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:90650] +subset: gard_rare {source="GARD:5121"} subset: ordo_clinical_subtype {source="Orphanet:90650"} synonym: "frontootopalatodigital osteodysplasia" RELATED [OMIM:311300] synonym: "OPD 1 syndrome" EXACT [OMIM:311300] @@ -210060,6 +214131,7 @@ synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical, OMIM:311300] synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [OMIM:311300, OMIM:genemap2] synonym: "Taybi syndrome" EXACT [Orphanet:90650] xref: DOID:0111783 {source="MONDO:equivalentTo"} +xref: GARD:5121 {source="Orphanet:90650"} xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="Orphanet:90650/attributed", source="Orphanet:90650/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C118845 {source="MONDO:equivalentTo"} @@ -210126,7 +214198,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010707 name: Paine syndrome -subset: gard_rare {source="GARD:0009780"} synonym: "microcephaly with spastic diplegia" RELATED [OMIM:311400] synonym: "Paine syndrome" EXACT [OMIM:311400] synonym: "Seemanova syndrome 1" RELATED [OMIM:311400] @@ -210140,12 +214211,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9780/paine-s id: MONDO:0010708 name: Pallister-W syndrome def: "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." [Orphanet:2804] +subset: gard_rare {source="GARD:358"} subset: ordo_malformation_syndrome {source="Orphanet:2804"} synonym: "median cleft upper lip, intellectual disability and pugilistic facies" RELATED [GARD:0000358] synonym: "median cleft upper lip, mental retardation and pugilistic facies" RELATED DEPRECATED [GARD:0000358] synonym: "Pallister W syndrome" RELATED [OMIM:311450] synonym: "Pallister-W syndrome" EXACT [Orphanet:2804] synonym: "W syndrome" EXACT [OMIM:311450] +xref: GARD:358 {source="Orphanet:2804"} xref: ICD10CM:Q87.8 {source="Orphanet:2804/attributed", source="Orphanet:2804/ntbt", source="Orphanet:2804"} xref: MESH:C538106 {source="MONDO:equivalentTo"} xref: OMIM:311450 {source="Orphanet:2804/e", source="MONDO:equivalentTo", source="Orphanet:2804"} @@ -210163,6 +214236,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0010709 name: early-onset parkinsonism-intellectual disability syndrome def: "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." [Orphanet:2379] +subset: gard_rare {source="GARD:3203"} subset: ordo_disease {source="Orphanet:2379"} synonym: "basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] @@ -210184,6 +214258,7 @@ synonym: "Wsn" RELATED [OMIM:311510] synonym: "X-linked recessive basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] xref: DOID:0111781 {source="MONDO:equivalentTo"} +xref: GARD:3203 {source="Orphanet:2379"} xref: ICD10CM:G20 {source="Orphanet:2379/attributed", source="Orphanet:2379/ntbt", source="Orphanet:2379"} xref: MESH:C537179 {source="MONDO:equivalentTo"} xref: OMIM:311510 {source="Orphanet:2379", source="MONDO:equivalentTo", source="Orphanet:2379/e"} @@ -210202,7 +214277,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010710 name: Pierre Robin syndrome-faciodigital anomaly syndrome def: "This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." [Orphanet:2888] -subset: gard_rare +subset: gard_rare {source="GARD:1274"} subset: ordo_malformation_syndrome {source="Orphanet:2888"} synonym: "Chitayat Meunier Hodgkinson syndrome" RELATED [GARD:0001274] synonym: "Chitayat-Meunier-Hodgkinson syndrome" EXACT [Orphanet:2888] @@ -210210,6 +214285,7 @@ synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [OMIM synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2888] synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274] synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926] +xref: GARD:1274 {source="Orphanet:2888"} xref: ICD10CM:Q87.8 {source="Orphanet:2888", source="Orphanet:2888/attributed", source="Orphanet:2888/ntbt"} xref: MESH:C535926 {source="MONDO:equivalentTo"} xref: OMIM:311895 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"} @@ -210225,7 +214301,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1274/chitaya id: MONDO:0010711 name: TARP syndrome def: "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." [Orphanet:2886] -subset: gard_rare {source="GARD:0010089"} +subset: gard_rare {source="GARD:10089"} subset: ordo_malformation_syndrome {source="Orphanet:2886"} synonym: "Pierre Robin sequence - congenital heart defect - talipes" RELATED [GARD:0010089] synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886] @@ -210239,6 +214315,7 @@ synonym: "tarp syndrome" EXACT [MONDO:Lexical, OMIM:311900] synonym: "TARP syndrome, X-linked recessive" EXACT [OMIM:311900, OMIM:genemap2] synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311900] xref: DOID:0111780 {source="MONDO:equivalentTo"} +xref: GARD:10089 {source="Orphanet:2886"} xref: ICD10CM:Q87.8 {source="Orphanet:2886", source="Orphanet:2886/attributed", source="Orphanet:2886/ntbt"} xref: MESH:C536942 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} xref: OMIM:311900 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} @@ -210255,7 +214332,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10089/tarp-s [Term] id: MONDO:0010712 name: panhypopituitarism, X-linked -subset: gard_rare {source="GARD:0006737"} +subset: gard_rare {source="GARD:6737"} synonym: "panhypopituitarism X-linked" RELATED [GARD:0006737] synonym: "panhypopituitarism, X-linked" EXACT [MONDO:Lexical, OMIM:312000] synonym: "PHPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312000] @@ -210263,6 +214340,7 @@ synonym: "pituitary dwarfism IV" RELATED [OMIM:312000] synonym: "pituitary dwarfism IV (formerly)" RELATED [GARD:0006737] synonym: "pituitary dwarfism IV, formerly" RELATED [OMIM:312000] xref: DOID:0111779 {source="MONDO:equivalentTo"} +xref: GARD:6737 {source="OMIM:312000"} xref: MESH:C538613 {source="MONDO:equivalentTo"} xref: OMIM:312000 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="OMIM:312000"} @@ -210277,6 +214355,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6737/panhypo id: MONDO:0010713 name: properdin deficiency, X-linked def: "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." [Orphanet:2966] +subset: gard_rare {source="GARD:4513"} subset: ordo_disease {source="Orphanet:2966"} synonym: "CFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312060] synonym: "complement Factor properdin deficiency" RELATED [OMIM:312060] @@ -210288,6 +214367,7 @@ synonym: "properdin deficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312060] synonym: "properdin deficiency, X-linked, X-linked recessive" EXACT [OMIM:312060, OMIM:genemap2] synonym: "properdin P Factor deficiency" RELATED [OMIM:312060] xref: DOID:0111768 {source="MONDO:equivalentTo"} +xref: GARD:4513 {source="Orphanet:2966"} xref: ICD10CM:D84.1 {source="Orphanet:2966", source="Orphanet:2966/attributed", source="Orphanet:2966/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"} @@ -210306,7 +214386,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010714 name: Pelizaeus-Merzbacher disease def: "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." [Orphanet:702] -subset: gard_rare {source="GARD:0004265"} +subset: gard_rare {source="GARD:4265"} subset: ordo_disease {source="Orphanet:702"} synonym: "diffuse familial brain sclerosis" EXACT [DOID:3210, Orphanet:702] synonym: "HLD1" EXACT ABBREVIATION [DOID:3210] @@ -210323,6 +214403,7 @@ synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphane synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210] xref: DECIPHER:38 {source="MONDO:equivalentTo"} xref: DOID:3210 {source="MONDO:equivalentTo"} +xref: GARD:4265 {source="Orphanet:702"} xref: ICD10CM:E75.2 {source="DOID:3210", source="Orphanet:702/ntbt", source="Orphanet:702", source="Orphanet:702/index"} xref: MedDRA:10067610 {source="Orphanet:702", source="Orphanet:702/e"} xref: MESH:D020371 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"} @@ -210352,13 +214433,14 @@ replaced_by: MONDO:0010720 id: MONDO:0010716 name: X-linked lethal multiple pterygium syndrome def: "X-linked form of lethal multiple pterygium syndrome." [MONDO:patterns/x_linked] -subset: gard_rare +subset: gard_rare {source="GARD:4573"} subset: ordo_malformation_syndrome {source="Orphanet:79447"} synonym: "lethal multiple pterygium syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "multiple pterygium syndrome X-linked" RELATED [GARD:0004573] synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150] synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573] synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150] +xref: GARD:4573 {source="Orphanet:79447"} xref: ICD10CM:Q79.8 {source="Orphanet:79447", source="Orphanet:79447/attributed", source="Orphanet:79447/ntbt"} xref: MESH:C564072 {source="MONDO:equivalentTo"} xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="Orphanet:79447/e", source="GARD:0004573"} @@ -210374,7 +214456,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4573/multipl id: MONDO:0010717 name: pyruvate dehydrogenase E1-alpha deficiency def: "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." [Orphanet:79243] -subset: gard_rare +subset: gard_rare {source="GARD:4620"} subset: ordo_clinical_subtype {source="Orphanet:79243"} synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620, OMIM:312170] synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [OMIM:312170] @@ -210389,6 +214471,7 @@ synonym: "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [OMIM:312170] synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:312170] synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [OMIM:312170, OMIM:genemap2] +xref: GARD:4620 {source="Orphanet:79243"} xref: ICD10CM:E74.4 {source="Orphanet:79243", source="Orphanet:79243/attributed", source="Orphanet:79243/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564071 {source="MONDO:equivalentTo"} @@ -210408,10 +214491,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010718 name: absent radius-anogenital anomalies syndrome def: "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." [Orphanet:3016] +subset: gard_rare {source="GARD:4633"} subset: ordo_malformation_syndrome {source="Orphanet:3016"} synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190] synonym: "radial aplasia, X-linked" RELATED [OMIM:312190] synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633] +xref: GARD:4633 {source="Orphanet:3016"} xref: MESH:C535281 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} xref: OMIM:312190 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} xref: Orphanet:3016 {source="MONDO:equivalentTo", source="OMIM:312190"} @@ -210436,7 +214521,7 @@ is_a: MONDO:0003847 {source="MESH:C564066/inferred"} ! hereditary disease id: MONDO:0010720 name: partial androgen insensitivity syndrome def: "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." [Orphanet:90797] -subset: gard_rare {source="GARD:0005692"} +subset: gard_rare {source="GARD:5692"} subset: ordo_disease {source="Orphanet:90797"} synonym: "androgen insensitivity syndrome, partial" RELATED [GARD:0005692, GTR:AN0098649] synonym: "androgen insensitivity, partial" EXACT [MONDO:Lexical, OMIM:312300] @@ -210453,6 +214538,7 @@ synonym: "Reifenstein syndrome" EXACT [OMIM:312300] synonym: "Reifenstein syndrome, partial" EXACT [GARD:0005692, GTR:AN0098654] synonym: "type I familial incomplete male pseudohermaphroditism" RELATED [GTR:AN0098655] xref: DOID:0080776 {source="MONDO:equivalentTo"} +xref: GARD:5692 {source="Orphanet:90797"} xref: GTR:AN0098649 xref: GTR:AN0098650 xref: GTR:AN0098651 @@ -210492,11 +214578,12 @@ is_a: MONDO:0003847 {source="MESH:C538362/inferred"} ! hereditary disease [Term] id: MONDO:0010722 name: X-linked retinal dysplasia -subset: gard_rare {source="GARD:0004680"} +subset: gard_rare {source="GARD:4680"} subset: ordo_disease {source="Orphanet:1852"} synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312550] synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680] synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550] +xref: GARD:4680 {source="Orphanet:1852"} xref: ICD10CM:Q14.1 {source="Orphanet:1852", source="Orphanet:1852/attributed", source="Orphanet:1852/ntbt"} xref: OMIM:312550 {source="MONDO:equivalentTo", source="Orphanet:1852", source="Orphanet:1852/e"} xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"} @@ -210511,12 +214598,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4680/retinal id: MONDO:0010723 name: retinitis pigmentosa 2 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10380"} synonym: "retinitis pigmentosa 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:312600] synonym: "retinitis pigmentosa caused by mutation in RP2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 2" EXACT [DOID:0110415, MONDORULE:1, OMIM:312600] synonym: "RP2" EXACT ABBREVIATION [DOID:0110415, MONDO:Lexical, OMIM:312600] synonym: "RP2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110415 {source="MONDO:equivalentTo"} +xref: GARD:10380 {source="OMIM:312600"} xref: ICD10CM:H35.5 {source="DOID:0110415", source="MONDO:relatedTo"} xref: MESH:C567523 {source="MONDO:equivalentTo"} xref: OMIM:312600 {source="DOID:0110415", source="MONDO:equivalentTo"} @@ -210539,6 +214628,7 @@ replaced_by: MONDO:0000910 id: MONDO:0010725 name: X-linked retinoschisis def: "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." [Orphanet:792] +subset: gard_rare {source="GARD:4690"} subset: ordo_malformation_syndrome {source="Orphanet:792"} synonym: "juvenile retinoschisis" RELATED [GARD:0004690] synonym: "juvenile X-linked retinoschisis" EXACT [NCIT:C75483] @@ -210557,6 +214647,7 @@ synonym: "XJR" RELATED ABBREVIATION [GARD:0004690] synonym: "XLRS" EXACT ABBREVIATION [DOID:0060763, Orphanet:792] synonym: "XLRS1" RELATED ABBREVIATION [OMIM:312700] xref: DOID:0060763 {source="MONDO:equivalentTo"} +xref: GARD:4690 {source="Orphanet:792"} xref: ICD10CM:Q14.1 {source="DOID:0060763", source="Orphanet:792/attributed", source="Orphanet:792/ntbt", source="Orphanet:792"} xref: NCIT:C75483 {source="MONDO:equivalentTo"} xref: OMIM:312700 {source="Orphanet:792/e", source="DOID:0060763", source="MONDO:equivalentTo", source="Orphanet:792"} @@ -210576,6 +214667,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010726 name: Rett syndrome def: "A severe neurodevelopmental disorder affecting the central nervous system." [Orphanet:778] +subset: gard_rare {source="GARD:5696"} subset: ordo_disease {source="Orphanet:778"} synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [OMIM:312750] synonym: "cerebroatrophic hyperammonemia" EXACT [DOID:1206] @@ -210590,6 +214682,7 @@ synonym: "Rett's disorder" EXACT [DOID:1206] synonym: "Rts" RELATED [OMIM:312750] synonym: "RTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312750] xref: DOID:1206 {source="MONDO:equivalentTo"} +xref: GARD:5696 {source="Orphanet:778"} xref: ICD10CM:F84.2 {source="Orphanet:778", source="Orphanet:778/specific", source="DOID:1206", source="Orphanet:778/e"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039000 {source="Orphanet:778", source="Orphanet:778/e"} @@ -210635,9 +214728,11 @@ property_value: confidence "0.26984126984127" xsd:double id: MONDO:0010728 name: SCARF syndrome def: "A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." [Orphanet:3134] +subset: gard_rare {source="GARD:247"} subset: ordo_malformation_syndrome {source="Orphanet:3134"} synonym: "SCARF syndrome" EXACT [OMIM:312830] synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830] +xref: GARD:247 {source="Orphanet:3134"} xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="Orphanet:3134/attributed", source="Orphanet:3134/ntbt"} xref: MESH:C536625 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: OMIM:312830 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} @@ -210655,6 +214750,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0010729 name: X-linked intellectual disability, Schimke type def: "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." [Orphanet:85285] +subset: gard_rare {source="GARD:9288"} subset: ordo_malformation_syndrome {source="Orphanet:85285"} synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" RELATED [GARD:0009288] synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" RELATED DEPRECATED [GARD:0009288] @@ -210665,6 +214761,7 @@ synonym: "choreoathetosis with mental retardation, X-linked" RELATED DEPRECATED synonym: "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" RELATED [GARD:0009288] synonym: "Schimke X-linked intellectual disability syndrome" RELATED [OMIM:312840] synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:312840] +xref: GARD:9288 {source="Orphanet:85285"} xref: ICD10CM:Q87.8 {source="Orphanet:85285/attributed", source="Orphanet:85285/ntbt", source="Orphanet:85285"} xref: MESH:C536630 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} xref: OMIM:312840 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} @@ -210695,7 +214792,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010731 name: Simpson-Golabi-Behmel syndrome def: "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." [Orphanet:373] -subset: gard_rare {source="GARD:0007649"} +subset: gard_rare {source="GARD:7649"} subset: ordo_malformation_syndrome {source="Orphanet:373"} synonym: "DGSX" EXACT ABBREVIATION [Orphanet:373] synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870] @@ -210707,6 +214804,7 @@ synonym: "SGBS" EXACT ABBREVIATION [Orphanet:373] synonym: "Sgbs" RELATED [OMIM:312870] synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_PREFERRED [] synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373] +xref: GARD:7649 {source="Orphanet:373"} xref: ICD10CM:Q87.3 {source="Orphanet:373", source="Orphanet:373/attributed", source="Orphanet:373/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537340 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:equivalentTo", source="Orphanet:373"} @@ -210731,12 +214829,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7649/simpson id: MONDO:0010732 name: spastic paraparesis-deafness syndrome def: "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." [Orphanet:2815] +subset: gard_rare {source="GARD:5555"} subset: ordo_malformation_syndrome {source="Orphanet:2815"} synonym: "familial spastic paraparesis and deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910] synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815] xref: DOID:0081100 {source="MONDO:equivalentTo"} +xref: GARD:5555 {source="Orphanet:2815"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:2815/attributed", source="Orphanet:2815/ntbt", source="Orphanet:2815"} xref: MESH:C536692 {source="MONDO:equivalentTo"} xref: OMIM:312910 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="Orphanet:2815"} @@ -210751,6 +214851,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010733 name: hereditary spastic paraplegia 2 def: "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." [Orphanet:99015] +subset: gard_rare {source="GARD:4923"} subset: ordo_disease {source="Orphanet:99015"} synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1] @@ -210766,6 +214867,7 @@ synonym: "Sppx2" RELATED [OMIM:312920] synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773] synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015] xref: DOID:0110773 {source="MONDO:equivalentTo"} +xref: GARD:4923 {source="Orphanet:99015"} xref: ICD10CM:G11.4 {source="Orphanet:99015", source="Orphanet:99015/attributed", source="Orphanet:99015/ntbt", source="DOID:0110773"} xref: MESH:C536857 {source="Orphanet:99015", source="Orphanet:99015/e"} xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="Orphanet:99015/e", source="DOID:0110773"} @@ -210799,6 +214901,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010735 name: Kennedy disease def: "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." [Orphanet:481] +subset: gard_rare {source="GARD:6818"} subset: ordo_disease {source="Orphanet:481"} synonym: "bulbospinal muscular atrophy, X-linked" RELATED [OMIM:313200] synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [OMIM:313200] @@ -210819,6 +214922,7 @@ synonym: "X-linked bulbospinal amyotrophy" EXACT [Orphanet:481] synonym: "X-linked bulbospinal muscular atrophy" EXACT [Orphanet:481] synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [DOID:0060161, Orphanet:481] xref: DOID:0060161 {source="MONDO:equivalentTo"} +xref: GARD:6818 {source="Orphanet:481"} xref: ICD10CM:G12.2 {source="Orphanet:481", source="Orphanet:481/attributed", source="Orphanet:481/ntbt"} xref: MedDRA:10068600 {source="Orphanet:481", source="Orphanet:481/e"} xref: MESH:D055534 {source="MONDO:equivalentTo", source="DOID:0060161"} @@ -210843,7 +214947,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010736 name: split hand-foot malformation 2 def: "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." [DOID:0090027, PMID:15617554] -subset: gard_rare +subset: gard_rare {source="GARD:15308"} synonym: "SHFD2" RELATED ABBREVIATION [GARD:0004968] synonym: "SHFM2" EXACT ABBREVIATION [DOID:0090027, GARD:0004968, MONDO:Lexical, OMIM:313350] synonym: "SHSF2" RELATED ABBREVIATION [GARD:0004968, OMIM:313350] @@ -210856,6 +214960,7 @@ synonym: "split-hand/foot deformity 2" RELATED [OMIM:313350] synonym: "split-hand/foot malformation 2" RELATED [MONDO:Lexical, OMIM:313350] synonym: "split-hand/split-foot anomaly, X-linked" RELATED [OMIM:313350] xref: DOID:0090027 {source="MONDO:equivalentTo"} +xref: GARD:15308 {source="OMIM:313350"} xref: ICD10CM:Q71.6 {source="DOID:0090027"} xref: MESH:C564056 {source="MONDO:equivalentTo"} xref: OMIM:313350 {source="MONDO:equivalentTo", source="DOID:0090027", source="GARD:0004968"} @@ -210870,7 +214975,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010737 name: spondyloepiphyseal dysplasia tarda, X-linked def: "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." [https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked] -subset: gard_rare {source="GARD:0004985"} +subset: gard_rare {source="GARD:4985"} synonym: "SED" RELATED ABBREVIATION [GARD:0004985] synonym: "Sed tarda, X-linked" RELATED [OMIM:313400] synonym: "SEDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313400] @@ -210881,6 +214986,7 @@ synonym: "spondyloepiphyseal dysplasia, late" RELATED [OMIM:313400] synonym: "X linked spondyloepiphyseal dysplasia tarda" RELATED [GARD:0004985] synonym: "X-linked spondyloepiphyseal dysplasia" RELATED [GARD:0004985] xref: DOID:0080362 {source="MONDO:equivalentTo"} +xref: GARD:4985 {source="OMIM:313400"} xref: OMIM:313400 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:313400"} xref: UMLS:C0220776 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -210899,12 +215005,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4985/spondyl id: MONDO:0010738 name: spondylometaphyseal dysplasia, Golden type def: "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." [Orphanet:168544] +subset: gard_rare {source="GARD:8343"} subset: ordo_disease {source="Orphanet:168544"} synonym: "spondylometaphyseal dysplasia Richmond type" RELATED [GARD:0008343] synonym: "spondylometaphyseal dysplasia X-linked" RELATED [GARD:0008343] synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420] synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420] synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544] +xref: GARD:8343 {source="Orphanet:168544"} xref: ICD10CM:Q77.8 {source="Orphanet:168544/attributed", source="Orphanet:168544/ntbt", source="Orphanet:168544"} xref: MESH:C563124 {source="MONDO:equivalentTo"} xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"} @@ -210926,7 +215034,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010740 name: taurodontism, microdontia, and dens invaginatus -subset: gard_rare {source="GARD:0010068"} synonym: "taurodontism, microdontia, and dens invaginatus" EXACT [OMIM:313490] xref: MESH:C536947 {source="MONDO:equivalentTo"} xref: OMIM:313490 {source="MONDO:equivalentTo"} @@ -210938,6 +215045,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10068/taurod id: MONDO:0010741 name: tooth agenesis, selective, X-linked, 1 def: "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18246"} synonym: "EDA tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [OMIM:313500] synonym: "STHAGX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313500] @@ -210945,6 +215053,7 @@ synonym: "tooth agenesis caused by mutation in EDA" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, X-linked 1, X-linked dominant" EXACT [OMIM:313500, OMIM:genemap2] synonym: "tooth agenesis, selective, X-linked, 1" EXACT [MONDO:Lexical, OMIM:313500] synonym: "tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1, OMIM:313500] +xref: GARD:18246 {source="OMIM:313500"} xref: MESH:C567060 {source="MONDO:equivalentTo"} xref: OMIM:313500 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:313500"} @@ -210962,7 +215071,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010742 name: pentalogy of Cantrell def: "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." [Orphanet:1335] -subset: gard_rare {source="GARD:0007359"} +subset: gard_rare {source="GARD:7359"} subset: ordo_malformation_syndrome {source="Orphanet:1335"} synonym: "Cantrell deformity" EXACT [Orphanet:1335] synonym: "Cantrell Haller Ravitsch syndrome" RELATED [GARD:0007359] @@ -210974,6 +215083,7 @@ synonym: "Tas" RELATED [OMIM:313850] synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313850] synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335] synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850] +xref: GARD:7359 {source="Orphanet:1335"} xref: ICD10CM:Q89.7 {source="Orphanet:1335", source="Orphanet:1335/attributed", source="Orphanet:1335/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058502 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"} @@ -210993,6 +215103,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7359/pentalo [Term] id: MONDO:0010743 name: thrombocytopenia 1 +subset: gard_rare {source="GARD:5176"} subset: ordo_etiological_subtype {source="Orphanet:852"} synonym: "THC" RELATED ABBREVIATION [OMIM:313900] synonym: "THC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313900] @@ -211006,6 +215117,7 @@ synonym: "thrombocytopenia, X-linked, X-linked recessive" EXACT [OMIM:313900, OM synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176] synonym: "X-linked thrombocytopenia with normal platelets" EXACT [Orphanet:852] synonym: "XLT" RELATED ABBREVIATION [GARD:0005176] +xref: GARD:5176 {source="Orphanet:852"} xref: ICD10CM:D69.4 {source="Orphanet:852", source="Orphanet:852/attributed", source="Orphanet:852/ntbt"} xref: MESH:C564052 {source="MONDO:equivalentTo"} xref: NCIT:C176617 {source="MONDO:equivalentTo"} @@ -211034,6 +215146,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010745 name: beta-thalassemia-X-linked thrombocytopenia syndrome def: "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." [Orphanet:231393] +subset: gard_rare {source="GARD:17166"} subset: ordo_disease {source="Orphanet:231393"} synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical, OMIM:314050] synonym: "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" EXACT [OMIM:314050, OMIM:genemap2] @@ -211041,6 +215154,7 @@ synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced glob synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941] synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393] xref: DOID:0111767 {source="MONDO:equivalentTo"} +xref: GARD:17166 {source="Orphanet:231393"} xref: ICD10CM:D69.4 {source="Orphanet:231393/attributed", source="Orphanet:231393/ntbt", source="Orphanet:231393"} xref: MESH:C564050 {source="MONDO:equivalentTo"} xref: NCIT:C134941 {source="MONDO:equivalentTo"} @@ -211071,6 +215185,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010747 name: X-linked dystonia-parkinsonism def: "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." [Orphanet:53351] +subset: gard_rare {source="GARD:10533"} subset: ordo_disease {source="Orphanet:53351"} synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical, OMIM:314250] synonym: "dystonia-Parkinsonism, X-linked" RELATED [OMIM:314250] @@ -211086,6 +215201,7 @@ synonym: "X-linked dystonia-parkinsonism/Lubag" RELATED [GARD:0010533] synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533] synonym: "XDP" EXACT ABBREVIATION [Orphanet:53351] xref: DOID:0090057 {source="MONDO:equivalentTo"} +xref: GARD:10533 {source="Orphanet:53351"} xref: ICD10CM:G24.1 {source="DOID:0090057", source="Orphanet:53351/attributed", source="Orphanet:53351/ntbt", source="Orphanet:53351"} xref: MESH:C564048 {source="MONDO:equivalentTo"} xref: NCIT:C126330 {source="MONDO:equivalentTo"} @@ -211107,6 +215223,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010748 name: torticollis-keloids-cryptorchidism-renal dysplasia syndrome def: "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." [Orphanet:3341] +subset: gard_rare {source="GARD:5230"} subset: ordo_malformation_syndrome {source="Orphanet:3341"} synonym: "Goeminne syndrome" RELATED [OMIM:314300] synonym: "Goeminne TKCR syndrome" EXACT [OMIM:314300, OMIM:genemap2] @@ -211115,6 +215232,7 @@ synonym: "TKCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314300] synonym: "Tkcr syndrome" RELATED [OMIM:314300] synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230] synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300] +xref: GARD:5230 {source="Orphanet:3341"} xref: ICD10CM:Q87.8 {source="Orphanet:3341/attributed", source="Orphanet:3341/ntbt", source="Orphanet:3341"} xref: MESH:C536970 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} xref: OMIM:314300 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} @@ -211131,12 +215249,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010749 name: trigonocephaly-short stature-developmental delay syndrome def: "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." [Orphanet:3369] +subset: gard_rare {source="GARD:243"} subset: ordo_malformation_syndrome {source="Orphanet:3369"} synonym: "Say Meyer syndrome" RELATED [GARD:0000243] synonym: "Say-Meyer syndrome" EXACT [Orphanet:3369] synonym: "trigonocephaly with short stature and developmental delay" RELATED [OMIM:314320] synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243] synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243] +xref: GARD:243 {source="Orphanet:3369"} xref: ICD10CM:Q87.0 {source="Orphanet:3369/attributed", source="Orphanet:3369/ntbt", source="Orphanet:3369"} xref: MESH:C536620 {source="MONDO:equivalentTo"} xref: OMIM:314320 {source="Orphanet:3369", source="MONDO:equivalentTo", source="Orphanet:3369/e"} @@ -211153,6 +215273,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010750 name: ulnar hypoplasia-split foot syndrome def: "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." [Orphanet:1122] +subset: gard_rare {source="GARD:5400"} subset: ordo_malformation_syndrome {source="Orphanet:1122"} synonym: "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet" RELATED [GARD:0005400] synonym: "familial ulnar aplasia and lobster claw syndrome" RELATED [GARD:0005400] @@ -211162,6 +215283,7 @@ synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [OMIM:31 synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orphanet:1122] synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400] synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122] +xref: GARD:5400 {source="Orphanet:1122"} xref: ICD10CM:Q73.8 {source="Orphanet:1122/attributed", source="Orphanet:1122/ntbt", source="Orphanet:1122"} xref: MESH:C536936 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} xref: OMIM:314360 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} @@ -211186,6 +215308,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010752 name: VACTERL association, X-linked, with or without hydrocephalus +subset: gard_rare {source="GARD:15309"} synonym: "VACTERL association with hydrocephaly, X-linked" RELATED [GARD:0008498] synonym: "VACTERL association, X-linked, with or without hydrocephalus" EXACT [MONDO:Lexical, OMIM:314390] synonym: "VACTERL association, X-linked, X-linked recessive" EXACT [OMIM:314390, OMIM:genemap2] @@ -211193,6 +215316,7 @@ synonym: "VACTERL-H, X-linked" RELATED [OMIM:314390] synonym: "VACTERLX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314390] synonym: "X-linked VACTERL-H syndrome" RELATED [GARD:0008498] xref: DOID:0111766 {source="MONDO:equivalentTo"} +xref: GARD:15309 {source="OMIM:314390"} xref: OMIM:314390 {source="MONDO:equivalentTo"} xref: Orphanet:3412 {source="OMIM:314390"} xref: UMLS:C1839115 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -211205,7 +215329,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010753 name: cardiac valvular dysplasia, X-linked -subset: gard_rare {source="GARD:0001096"} +subset: gard_rare {source="GARD:1096"} subset: ordo_morphological_anomaly {source="Orphanet:1864"} synonym: "cardiac valvular dysplasia, X-linked" EXACT [MONDO:Lexical, OMIM:314400] synonym: "congenital valvular dysplasia" EXACT [MONDO:0015989] @@ -211214,6 +215338,7 @@ synonym: "myxomatous valvular dystrophy, X-linked" EXACT [OMIM:314400] synonym: "valvular heart disease, congenital" EXACT [OMIM:314400] synonym: "XMVD" EXACT ABBREVIATION [GARD:0001096] xref: DOID:0111765 {source="MONDO:equivalentTo"} +xref: GARD:1096 {source="Orphanet:555877"} xref: ICD10CM:Q24.8 {source="Orphanet:1864", source="Orphanet:1864/attributed", source="Orphanet:1864/ntbt"} xref: MESH:C535576 {source="MONDO:equivalentTo"} xref: OMIM:314400 {source="MONDO:equivalentTo", source="Orphanet:1864", source="Orphanet:1864/btnt"} @@ -211230,10 +215355,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1096/cardiac id: MONDO:0010754 name: van den Bosch syndrome def: "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." [Orphanet:3417] -subset: gard_rare {source="GARD:0005453"} +subset: gard_rare {source="GARD:5453"} subset: ordo_malformation_syndrome {source="Orphanet:3417"} synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" RELATED [GARD:0005453] synonym: "van den Bosch syndrome" EXACT [OMIM:314500] +xref: GARD:5453 {source="Orphanet:3417"} xref: MESH:C563129 {source="MONDO:equivalentTo"} xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="Orphanet:3417/e"} xref: Orphanet:3417 {source="MONDO:equivalentTo", source="OMIM:314500"} @@ -211283,6 +215409,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010758 name: Wieacker-Wolff syndrome def: "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." [Orphanet:3454] +subset: gard_rare {source="GARD:7890", source="GARD:9984"} subset: ordo_malformation_syndrome {source="Orphanet:3454", source="Orphanet:85283"} synonym: "apraxia, oculomotor, with congenital contractures and muscle atrophy" EXACT [OMIM:314580] synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [OMIM:314580] @@ -211304,6 +215431,8 @@ synonym: "WRWF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314580] synonym: "WRWFXLR" EXACT ABBREVIATION [MONDO:cjm] synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815] xref: DOID:0060815 {source="MONDO:equivalentTo"} +xref: GARD:7890 {source="Orphanet:3454"} +xref: GARD:9984 {source="Orphanet:85283"} xref: ICD10CM:G71.8 {source="Orphanet:3454/attributed", source="Orphanet:3454/ntbt", source="Orphanet:3454"} xref: ICD10CM:Q87.8 {source="Orphanet:85283/attributed", source="Orphanet:85283/ntbt", source="DOID:0060815", source="Orphanet:85283"} xref: MESH:C536703 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e"} @@ -211328,13 +215457,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010759 name: Wildervanck syndrome def: "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." [Orphanet:3456] -subset: gard_rare {source="GARD:0005569"} +subset: gard_rare {source="GARD:5569"} subset: ordo_malformation_syndrome {source="Orphanet:3456"} synonym: "cervico-oculo-acoustic dysplasia" RELATED [GARD:0005569] synonym: "cervico-oculo-acoustic syndrome" RELATED [GARD:0005569] synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456] synonym: "COA syndrome" RELATED [GARD:0005569] synonym: "Wildervanck syndrome" EXACT [OMIM:314600] +xref: GARD:5569 {source="Orphanet:3456"} xref: ICD10CM:Q87.8 {source="Orphanet:3456/attributed", source="Orphanet:3456/ntbt", source="Orphanet:3456"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069402 {source="Orphanet:3456", source="Orphanet:3456/e"} @@ -211366,11 +215496,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010761 name: retinitis pigmentosa Y-linked def: "Y-linked form of retinitis pigmentosa." [MONDO:patterns/y_linked] +subset: gard_rare {source="GARD:15310"} synonym: "retinitis pigmentosa, Y-linked" EXACT [MONDO:Lexical, MONDO:patterns/y_linked, OMIM:400004] synonym: "retinitis pigmentosa, y-linked, y-linked" EXACT [OMIM:400004, OMIM:genemap2] synonym: "RPY" EXACT ABBREVIATION [DOID:0110418, MONDO:Lexical, OMIM:400004] synonym: "Y-linked retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110418 {source="MONDO:equivalentTo"} +xref: GARD:15310 {source="OMIM:400004"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110418"} xref: MESH:C564035 {source="MONDO:equivalentTo"} xref: OMIM:400004 {source="MONDO:equivalentTo", source="DOID:0110418"} @@ -211396,6 +215528,7 @@ property_value: confidence "1.4444444444444438" xsd:double [Term] id: MONDO:0010763 name: spermatogenic failure, Y-linked, 1 +subset: gard_rare {source="GARD:18503"} synonym: "hypospermatogenesis" RELATED [OMIM:400042] synonym: "incomplete Sertoli cell-only syndrome" RELATED [OMIM:400042] synonym: "Sertoli cell-only syndrome, type 1" RELATED [OMIM:400042] @@ -211406,6 +215539,7 @@ synonym: "spermatogenic failure, Y-linked, 1, Y-linked" EXACT [OMIM:400042, OMIM synonym: "spermatogenic failure, Y-linked, type 1" EXACT [MONDORULE:1, OMIM:400042] synonym: "SPGFY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:400042] xref: DOID:0070186 {source="MONDO:equivalentTo"} +xref: GARD:18503 {source="OMIM:400042"} xref: OMIM:400042 {source="MONDO:equivalentTo"} xref: Orphanet:1646 {source="OMIM:400042"} xref: UMLS:C0028960 {source="OMIM:400042", source="MONDO:relatedTo"} @@ -211438,6 +215572,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010765 name: 46,XY complete gonadal dysgenesis def: "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." [Orphanet:242] +subset: gard_rare {source="GARD:5068"} subset: ordo_malformation_syndrome {source="Orphanet:242"} subset: prototype_pattern synonym: "46 XY gonadal dysgenesis" EXACT [MONDO:0001968] @@ -211455,6 +215590,7 @@ synonym: "sex-reversing locus on X, formerly" RELATED [OMIM:400044] synonym: "Swyer syndrome" EXACT [DOID:14448, Orphanet:242] synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044] xref: DOID:14448 {source="MONDO:equivalentTo"} +xref: GARD:5068 {source="Orphanet:242"} xref: ICD10CM:Q99.1 {source="Orphanet:242/e", source="Orphanet:242/inclusion", source="Orphanet:242"} xref: MESH:C567574 xref: MESH:C567575 @@ -211484,6 +215620,7 @@ replaced_by: MONDO:0100250 [Term] id: MONDO:0010767 name: spermatogenic failure, Y-linked, 2 +subset: gard_rare {source="GARD:18504"} synonym: "Azf regions" RELATED [OMIM:415000] synonym: "azoospermia Factor regions" RELATED [OMIM:415000] synonym: "azoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000] @@ -211496,6 +215633,7 @@ synonym: "spermatogenic failure, Y-linked, 2, Y-linked" EXACT [OMIM:415000, OMIM synonym: "spermatogenic failure, Y-linked, type 2" EXACT [MONDORULE:1, OMIM:415000] synonym: "SPGFY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:415000] xref: DOID:0070187 {source="MONDO:equivalentTo"} +xref: GARD:18504 {source="OMIM:415000"} xref: MESH:C564030 {source="MONDO:equivalentTo"} xref: OMIM:415000 {source="MONDO:equivalentTo"} xref: Orphanet:1646 {source="OMIM:415000"} @@ -211556,7 +215694,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010771 name: histiocytoid cardiomyopathy def: "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." [Orphanet:137675] -subset: gard_rare +subset: gard_rare {source="GARD:9511"} subset: ordo_disease {source="Orphanet:137675"} synonym: "Arachnocytosis of the myocardium" EXACT [NCIT:C45745] synonym: "cardiomyopathy, focal Lipid" RELATED [OMIM:500000] @@ -211575,6 +215713,7 @@ synonym: "myocardial hamartoma" EXACT [NCIT:C45745] synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745] xref: DOID:0080198 {source="MONDO:equivalentTo"} +xref: GARD:9511 {source="Orphanet:137675"} xref: ICD10CM:I42.0 {source="Orphanet:137675", source="Orphanet:137675/attributed", source="Orphanet:137675/ntbt"} xref: MESH:C535584 {source="Orphanet:137675", source="MONDO:equivalentTo", source="Orphanet:137675/e"} xref: NCIT:C45745 {source="MONDO:equivalentTo"} @@ -211592,6 +215731,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9511/infanti [Term] id: MONDO:0010772 name: Leber optic atrophy and dystonia +subset: gard_rare {source="GARD:15311"} synonym: "dystonia familial, with visual failure and striatal lucencies" RELATED [GARD:0008476] synonym: "dystonia, familial, with visual failure and striatal lucencies" RELATED [MESH:C536024, OMIM:500001] synonym: "LDYT" RELATED ABBREVIATION [GARD:0008476] @@ -211602,6 +215742,7 @@ synonym: "Leber's hereditary optic neuropathy with dystonia" RELATED [GARD:00084 synonym: "LHON and dystonia" RELATED [GARD:0008476] synonym: "Marsden syndrome" RELATED [OMIM:500001] xref: DOID:0111755 {source="MONDO:equivalentTo"} +xref: GARD:15311 {source="OMIM:500001"} xref: MESH:C536024 {source="MONDO:equivalentTo"} xref: OMIM:500001 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="OMIM:500001"} @@ -211614,10 +215755,12 @@ property_value: confidence "29.33333333333344" xsd:double [Term] id: MONDO:0010773 name: mitochondrial myopathy with diabetes +subset: gard_rare {source="GARD:3881"} subset: ordo_disease {source="Orphanet:2596"} synonym: "mitochondrial myopathy with diabetes" EXACT [OMIM:500002] synonym: "mitochondrial myopathy, lipid type" EXACT [OMIM:500002] synonym: "myopathy and diabetes mellitus" EXACT [Orphanet:2596] +xref: GARD:3881 {source="Orphanet:2596"} xref: ICD10CM:G71.3 {source="Orphanet:2596/attributed", source="Orphanet:2596/ntbt", source="Orphanet:2596"} xref: MESH:C564026 {source="MONDO:equivalentTo"} xref: OMIM:500002 {source="Orphanet:2596", source="MONDO:equivalentTo", source="Orphanet:2596/e"} @@ -211631,9 +215774,11 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0010774 name: striatonigral degeneration, infantile, mitochondrial +subset: gard_rare {source="GARD:18315"} synonym: "bilateral striatal Necrosis, infantile, mitochondrial" RELATED [OMIM:500003] synonym: "infantile bilateral striatal Necrosis, mitochondrial" RELATED [OMIM:500003] synonym: "striatonigral degeneration, infantile, mitochondrial" EXACT [OMIM:500003] +xref: GARD:18315 {source="OMIM:500003"} xref: MESH:C564025 {source="MONDO:equivalentTo"} xref: OMIM:500003 {source="MONDO:equivalentTo"} xref: Orphanet:1576 {source="OMIM:500003"} @@ -211647,6 +215792,7 @@ id: MONDO:0010775 name: retinitis pigmentosa-deafness syndrome def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." [DOID:0110829, PMID:10090882] comment: Editor note: check relationship to Usher 3 from ORDO +subset: gard_rare {source="GARD:4684"} synonym: "retinitis pigmentosa 21" RELATED [OMIM:500004] synonym: "retinitis pigmentosa 21, formerly" RELATED [OMIM:500004] synonym: "retinitis pigmentosa 8" RELATED [OMIM:500004] @@ -211655,6 +215801,7 @@ synonym: "retinitis pigmentosa-deafness syndrome" EXACT [OMIM:500004] synonym: "RP21, formerly" RELATED [GARD:0004684] synonym: "RP8, formerly" RELATED [GARD:0004684] xref: DOID:0110829 {source="MONDO:equivalentTo"} +xref: GARD:4684 {source="OMIM:500004"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110829"} xref: OMIM:500004 {source="MONDO:equivalentTo", source="DOID:0110829"} xref: Orphanet:231183 {source="MONDO:OtherRelationship", source="OMIM:500004", source="DOID:0110829", source="MONDO:directSiblingOf"} @@ -211705,7 +215852,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010779 name: mitochondrial non-syndromic sensorineural hearing loss -subset: gard_rare +subset: gard_rare {source="GARD:18160", source="GARD:16792"} subset: ordo_etiological_subtype {source="Orphanet:90641"} synonym: "deafness, isolated, due to mitochondrial transmission" NARROW [GARD:0001709] synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [OMIM:500008] @@ -211714,6 +215861,8 @@ synonym: "isolated mitochondrial sensorineural deafness" NARROW [Orphanet:90641] synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [Orphanet:90641] synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [OMIM:500008] xref: DOID:0111751 {source="MONDO:equivalentTo"} +xref: GARD:16792 {source="Orphanet:90641"} +xref: GARD:18160 {source="OMIM:500008"} xref: ICD10CM:H90.3 {source="Orphanet:90641", source="Orphanet:90641/attributed", source="Orphanet:90641/ntbt"} xref: OMIM:500008 {source="MONDO:equivalentTo", source="Orphanet:90641", source="Orphanet:90641/e"} xref: Orphanet:90641 {source="MONDO:equivalentTo", source="OMIM:500008"} @@ -211728,6 +215877,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010780 name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency +subset: gard_rare {source="GARD:17227"} subset: ordo_disease {source="Orphanet:254864"} synonym: "benign COX deficiency" EXACT [Orphanet:254864] synonym: "Cox deficiency myopathy, infantile, transient" RELATED [OMIM:500009] @@ -211740,6 +215890,7 @@ synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500009] synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009] synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864] synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864] +xref: GARD:17227 {source="Orphanet:254864"} xref: ICD10CM:G71.3 {source="Orphanet:254864", source="Orphanet:254864/attributed", source="Orphanet:254864/ntbt"} xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="Orphanet:254864/e"} xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"} @@ -211762,11 +215913,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010782 name: myopathy, lactic acidosis, and sideroblastic anemia 3 +subset: gard_rare {source="GARD:15312"} synonym: "MLASA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500011] synonym: "myopathy, lactic acidosis, and sideroblastic anaemia type 3" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [MONDO:Lexical, OMIM:500011] synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1, OMIM:500011] xref: DOID:0111184 {source="MONDO:equivalentTo"} +xref: GARD:15312 {source="OMIM:500011"} xref: OMIM:500011 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:500011"} xref: UMLS:C4225415 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -211797,7 +215950,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010785 name: maternally-inherited diabetes and deafness def: "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." [Orphanet:225] -subset: gard_rare {source="GARD:0004003"} +subset: gard_rare {source="GARD:4003"} subset: ordo_disease {source="Orphanet:225"} synonym: "Ballinger Wallace syndrome" RELATED [GARD:0004003] synonym: "Ballinger-Wallace syndrome" RELATED [OMIM:520000] @@ -211810,6 +215963,7 @@ synonym: "MIDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:520000, Orphanet:225] synonym: "mitochondrial diabetes" EXACT [Orphanet:225] synonym: "Niddm with deafness" RELATED [OMIM:520000] synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000] +xref: GARD:4003 {source="Orphanet:225"} xref: ICD10CM:E13.8 {source="Orphanet:225", source="Orphanet:225/attributed", source="Orphanet:225/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"} @@ -211830,8 +215984,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4003/materna id: MONDO:0010786 name: chronic diarrhea with villous atrophy def: "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." [Orphanet:1670] +subset: gard_rare {source="GARD:16576"} subset: ordo_disease {source="Orphanet:1670"} synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100] +xref: GARD:16576 {source="Orphanet:1670"} xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="Orphanet:1670/attributed", source="Orphanet:1670/ntbt"} xref: MESH:C564019 {source="MONDO:equivalentTo"} xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="Orphanet:1670/e"} @@ -211846,7 +216002,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010787 name: Kearns-Sayre syndrome def: "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." [Orphanet:480] -subset: gard_rare {source="GARD:0006817"} +subset: gard_rare {source="GARD:6817"} subset: ordo_disease {source="Orphanet:480"} synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000] synonym: "CPEO with myopathy" RELATED [OMIM:530000] @@ -211866,6 +216022,7 @@ synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED synonym: "ophthalmoplegia, progressive external, with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000] xref: DOID:12934 {source="MONDO:equivalentTo"} +xref: GARD:6817 {source="Orphanet:480"} xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"} xref: ICD10CM:H49.81 {source="DOID:12934"} xref: MedDRA:10048804 {source="Orphanet:480", source="Orphanet:480/e"} @@ -211896,6 +216053,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6817/kearns- id: MONDO:0010788 name: Leber hereditary optic neuropathy def: "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." [Orphanet:104] +subset: gard_rare {source="GARD:6870"} subset: ordo_disease {source="Orphanet:104"} synonym: "Leber Hereditary optic atrophy" EXACT [NCIT:C84808] synonym: "Leber hereditary optic neuropathy" EXACT [OMIM:535000] @@ -211906,6 +216064,7 @@ synonym: "Leber’s disease" RELATED [GARD:0006870] synonym: "LHON" EXACT ABBREVIATION [Orphanet:104] synonym: "optic atrophy, Leber type" RELATED [GARD:0006870] xref: DOID:705 {source="MONDO:equivalentTo"} +xref: GARD:6870 {source="Orphanet:104"} xref: ICD10CM:H47.2 {source="Orphanet:104", source="Orphanet:104/attributed", source="Orphanet:104/ntbt"} xref: ICD10CM:H47.22 {source="DOID:705"} xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"} @@ -211929,6 +216088,7 @@ property_value: confidence "2.5590909090909086" xsd:double id: MONDO:0010789 name: MELAS syndrome def: "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." [Orphanet:550] +subset: gard_rare {source="GARD:7009"} subset: ordo_disease {source="Orphanet:550"} synonym: "MELAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:540000] synonym: "MELAS syndrome" EXACT [OMIM:540000] @@ -211938,6 +216098,7 @@ synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episo synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550] synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" EXACT [DOID:3687, MONDO:Lexical, OMIM:540000] xref: DOID:3687 {source="MONDO:equivalentTo"} +xref: GARD:7009 {source="Orphanet:550"} xref: ICD10CM:E88.41 {source="DOID:3687", source="MONDO:equivalentTo"} xref: ICD10CM:G71.3 {source="Orphanet:550/attributed", source="Orphanet:550/ntbt", source="Orphanet:550"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -211957,6 +216118,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010790 name: MERRF syndrome def: "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." [NCIT:P378] +subset: gard_rare {source="GARD:7144"} subset: ordo_disease {source="Orphanet:551"} synonym: "Fukuhara syndrome" EXACT [Orphanet:551] synonym: "MERRF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:545000] @@ -211980,6 +216142,7 @@ synonym: "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)" E synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144] synonym: "myoencephalopathy ragged-red fibre disease" RELATED OMO:0003005 [] xref: DOID:310 {source="MONDO:equivalentTo"} +xref: GARD:7144 {source="Orphanet:551"} xref: ICD10CM:E88.42 {source="MONDO:equivalentTo", source="DOID:310"} xref: ICD10CM:G71.3 {source="Orphanet:551/attributed", source="Orphanet:551/ntbt", source="Orphanet:551"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -212006,9 +216169,10 @@ property_value: excluded_subClassOf "http://purl.obolibrary.org/obo/MONDO_002007 id: MONDO:0010791 name: myoglobinuria, recurrent def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." [https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent] -subset: gard_rare {source="GARD:0003879"} +subset: gard_rare {source="GARD:3879"} synonym: "myoglobinuria recurrent" RELATED [GARD:0003879] synonym: "myoglobinuria, recurrent" EXACT [OMIM:550500] +xref: GARD:3879 {source="OMIM:550500"} xref: MESH:C564018 {source="MONDO:equivalentTo"} xref: OMIM:550500 {source="MONDO:equivalentTo"} xref: Orphanet:99845 {source="OMIM:550500"} @@ -212022,11 +216186,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3879/myoglob id: MONDO:0010792 name: lethal infantile mitochondrial myopathy def: "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." [Orphanet:254857] +subset: gard_rare {source="GARD:17226"} subset: ordo_disease {source="Orphanet:254857"} synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857] synonym: "LIMD" EXACT ABBREVIATION [Orphanet:254857] synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857] synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000] +xref: GARD:17226 {source="Orphanet:254857"} xref: ICD10CM:G71.3 {source="Orphanet:254857", source="Orphanet:254857/attributed", source="Orphanet:254857/ntbt"} xref: MESH:C564017 {source="MONDO:equivalentTo"} xref: OMIM:551000 {source="Orphanet:254857/e", source="MONDO:equivalentTo", source="Orphanet:254857"} @@ -212050,6 +216216,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010794 name: NARP syndrome def: "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." [Orphanet:644] +subset: gard_rare {source="GARD:262"} subset: ordo_disease {source="Orphanet:644"} synonym: "NARP" RELATED ABBREVIATION [GARD:0000262] synonym: "NARP syndrome" EXACT [OMIM:551500] @@ -212058,6 +216225,7 @@ synonym: "neuropathy ataxia retinitis pigmentosa syndrome" RELATED [GARD:0000262 synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500] synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] xref: DOID:0111273 {source="MONDO:equivalentTo"} +xref: GARD:262 {source="Orphanet:644"} xref: ICD10CM:G31.8 {source="Orphanet:644/attributed", source="Orphanet:644/ntbt", source="Orphanet:644"} xref: MedDRA:10062940 {source="Orphanet:644", source="Orphanet:644/e"} xref: MESH:C537396 {source="MONDO:equivalentTo"} @@ -212102,7 +216270,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010797 name: Pearson syndrome def: "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." [Orphanet:699] -subset: gard_rare {source="GARD:0007343"} +subset: gard_rare {source="GARD:7343"} subset: ordo_disease {source="Orphanet:699"} synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000] synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343] @@ -212112,6 +216280,7 @@ synonym: "sideroblastic anaemia with marrow cell vacuolization and exocrine panc synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343] xref: DOID:0060067 {source="MONDO:equivalentTo"} +xref: GARD:7343 {source="Orphanet:699"} xref: ICD10CM:D64.0 {source="Orphanet:699/attributed", source="Orphanet:699/ntbt", source="Orphanet:699"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062941 {source="Orphanet:699", source="Orphanet:699/e"} @@ -212150,6 +216319,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0010799 name: deafness, aminoglycoside-induced +subset: gard_rare {source="GARD:18161"} subset: ordo_etiological_subtype {source="Orphanet:168609"} subset: predisposition synonym: "aminoglycoside-induced deafness" EXACT [OMIM:580000] @@ -212167,6 +216337,7 @@ synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] synonym: "streptomycin ototoxicity" EXACT [OMIM:580000] xref: DOID:0111734 {source="MONDO:equivalentTo"} +xref: GARD:18161 {source="OMIM:580000"} xref: MESH:C564013 {source="MONDO:equivalentTo"} xref: OMIM:580000 {source="Orphanet:168609/e", source="MONDO:equivalentTo", source="Orphanet:168609"} xref: Orphanet:168609 {source="MONDO:equivalentObsolete", source="OMIM:580000"} @@ -212182,10 +216353,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010800 name: Wolfram syndrome, mitochondrial form +subset: gard_rare {source="GARD:15313"} synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" RELATED [OMIM:598500] synonym: "Didmoad syndrome, mitochondrial form" RELATED [OMIM:598500] synonym: "Wolfram syndrome, mitochondrial form" EXACT [OMIM:598500] xref: DOID:0080583 {source="MONDO:equivalentTo"} +xref: GARD:15313 {source="OMIM:598500"} xref: MESH:C564012 {source="MONDO:equivalentTo"} xref: OMIM:598500 {source="MONDO:equivalentTo"} xref: Orphanet:3463 {source="OMIM:598500"} @@ -212197,10 +216370,12 @@ property_value: confidence "5.33333333333332" xsd:double id: MONDO:0010801 name: spondylocamptodactyly syndrome def: "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." [Orphanet:3180] +subset: gard_rare {source="GARD:4972"} subset: ordo_malformation_syndrome {source="Orphanet:3180"} synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000] synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972] synonym: "spondylocamptodactyly" RELATED [OMIM:600000] +xref: GARD:4972 {source="Orphanet:3180"} xref: ICD10CM:Q77.8 {source="Orphanet:3180", source="Orphanet:3180/attributed", source="Orphanet:3180/ntbt"} xref: MESH:C535779 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} xref: OMIM:600000 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} @@ -212215,6 +216390,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0010802 name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome def: "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." [Orphanet:2255] +subset: gard_rare {source="GARD:347"} subset: ordo_disease {source="Orphanet:2255"} synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" RELATED [GARD:0000347] synonym: "HDCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600001] @@ -212226,6 +216402,7 @@ synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXAC synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347] synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255] xref: DOID:0111733 {source="MONDO:equivalentTo"} +xref: GARD:347 {source="Orphanet:2255"} xref: ICD10CM:Q87.8 {source="Orphanet:2255/attributed", source="Orphanet:2255/ntbt", source="Orphanet:2255"} xref: MESH:C564011 {source="MONDO:equivalentTo"} xref: OMIM:600001 {source="Orphanet:2255", source="MONDO:equivalentTo", source="Orphanet:2255/e"} @@ -212246,12 +216423,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010803 name: Eiken syndrome def: "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." [Orphanet:79106] +subset: gard_rare {source="GARD:16698"} subset: ordo_malformation_syndrome {source="Orphanet:79106"} synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002] synonym: "bone modelling defect of hands and feet" RELATED OMO:0003005 [] synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] synonym: "Eiken syndrome" EXACT [OMIM:600002] xref: DOID:0111732 {source="MONDO:equivalentTo"} +xref: GARD:16698 {source="Orphanet:79106"} xref: MESH:C564010 {source="MONDO:equivalentTo"} xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="Orphanet:79106/e"} xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"} @@ -212282,6 +216461,7 @@ consider: MONDO:0016419 id: MONDO:0010805 name: bladder exstrophy def: "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." [Orphanet:93930] +subset: gard_rare {source="GARD:6398"} subset: ordo_clinical_subtype {source="Orphanet:93930"} synonym: "bladder exstrophy" EXACT [MONDO:ambiguous] synonym: "bladder exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -212291,6 +216471,7 @@ synonym: "ectopia vesicae" EXACT [NCIT:C123207] synonym: "exstrophy of bladder" RELATED [OMIM:600057] synonym: "exstrophy of the bladder" RELATED [GARD:0006398] xref: DOID:0080174 {source="MONDO:equivalentTo"} +xref: GARD:6398 {source="Orphanet:93930"} xref: HP:0002836 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.1 {source="DOID:0080174", source="Orphanet:93930/specific", source="Orphanet:93930", source="Orphanet:93930/e"} xref: ICD9:753.5 {source="DOID:0080174", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -212310,7 +216491,7 @@ property_value: IAO:0000589 "bladder exstrophy (disease)" xsd:string id: MONDO:0010806 name: retinitis pigmentosa 13 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010388"} +subset: gard_rare {source="GARD:10388"} synonym: "PRPF8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 13" EXACT [MONDO:Lexical, OMIM:600059] synonym: "retinitis pigmentosa caused by mutation in PRPF8" EXACT [MONDO:design_pattern] @@ -212318,6 +216499,7 @@ synonym: "retinitis pigmentosa type 13" EXACT [DOID:0110403, MONDORULE:2, OMIM:6 synonym: "RP 13" RELATED [GARD:0010388] synonym: "RP13" EXACT ABBREVIATION [DOID:0110403, MONDO:Lexical, OMIM:600059] xref: DOID:0110403 {source="MONDO:equivalentTo"} +xref: GARD:10388 {source="OMIM:600059"} xref: ICD10CM:H35.5 {source="DOID:0110403", source="MONDO:relatedTo"} xref: MESH:C564008 {source="MONDO:equivalentTo"} xref: OMIM:600059 {source="DOID:0110403", source="MONDO:equivalentTo"} @@ -212332,6 +216514,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10388/retini id: MONDO:0010807 name: autosomal recessive nonsyndromic hearing loss 2 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22582"} synonym: "autosomal recessive deafness 2" NARROW [DOID:0110477] synonym: "autosomal recessive nonsyndromic deafness 2" NARROW [OMIM:600060] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] @@ -212342,6 +216525,7 @@ synonym: "DFNB2" NARROW ABBREVIATION [DOID:0110477, MONDO:Lexical, OMIM:600060] synonym: "MYO7A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [OMIM:600060] xref: DOID:0110477 {source="MONDO:equivalentTo"} +xref: GARD:22582 {source="OMIM:600060"} xref: ICD10CM:H90.3 {source="DOID:0110477"} xref: MESH:C564007 {source="MONDO:equivalentTo"} xref: OMIM:600060 {source="MONDO:equivalentTo", source="DOID:0110477"} @@ -212357,7 +216541,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010808 name: fatal familial insomnia def: "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." [Orphanet:466] -subset: gard_rare {source="GARD:0006429"} +subset: gard_rare {source="GARD:6429"} subset: ordo_disease {source="Orphanet:466"} synonym: "familial fatal insomnia" RELATED [GARD:0006429] synonym: "fatal familial INSOMNIA" RELATED [OMIM:600072] @@ -212366,6 +216550,7 @@ synonym: "FFI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600072] synonym: "Insomnia familial fatal" RELATED [GARD:0006429] synonym: "Insomnia, fatal familial" RELATED [OMIM:600072] xref: DOID:0050433 {source="MONDO:equivalentTo"} +xref: GARD:6429 {source="Orphanet:466"} xref: ICD10CM:A81.8 {source="Orphanet:466", source="Orphanet:466/attributed", source="Orphanet:466/ntbt"} xref: ICD10CM:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"} xref: ICD9:046.72 {source="DOID:0050433"} @@ -212388,7 +216573,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6429/fatal-f id: MONDO:0010809 name: familial chronic myelocytic leukemia-like syndrome def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." [DOID:0060761, PMID:8086739] -subset: gard_rare {source="GARD:0010141"} synonym: "CML-like syndrome, familial" RELATED [OMIM:600080] synonym: "familial CML-like syndrome" EXACT [DOID:0060761] synonym: "myelocytic leukemia-like syndrome, familial, chronic" RELATED [OMIM:600080] @@ -212403,6 +216587,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10141/myeloc id: MONDO:0010810 name: vitamin D hydroxylation-deficient rickets, type 1B def: "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." [NCIT:C131074] +subset: gard_rare {source="GARD:18415"} synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:600081] synonym: "CYP2R1 vitamin D-dependent rickets, type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [OMIM:600081] @@ -212415,6 +216600,7 @@ synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [MONDO:Lexic synonym: "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" EXACT [MONDO:design_pattern] synonym: "vitamin D-dependent rickets, type 1B" RELATED [OMIM:600081] xref: DOID:0080887 {source="MONDO:equivalentTo"} +xref: GARD:18415 {source="OMIM:600081"} xref: MESH:C564005 {source="MONDO:equivalentTo"} xref: NCIT:C131074 {source="MONDO:equivalentTo"} xref: OMIM:600081 {source="MONDO:equivalentTo"} @@ -212491,11 +216677,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010814 name: chondrodysplasia-pseudohermaphroditism syndrome def: "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." [Orphanet:1422] +subset: gard_rare {source="GARD:16565"} subset: ordo_malformation_syndrome {source="Orphanet:1422"} synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644] synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422] xref: DOID:0060644 {source="MONDO:equivalentTo"} +xref: GARD:16565 {source="Orphanet:1422"} xref: ICD10CM:Q87.1 {source="Orphanet:1422/attributed", source="Orphanet:1422/ntbt", source="Orphanet:1422", source="DOID:0060644"} xref: MESH:C536123 {source="MONDO:equivalentTo"} xref: OMIM:600092 {source="Orphanet:1422", source="DOID:0060644", source="MONDO:equivalentTo", source="Orphanet:1422/e"} @@ -212525,7 +216713,7 @@ is_a: MONDO:0019667 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloe id: MONDO:0010816 name: Qazi Markouizos syndrome def: "Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." [Orphanet:3010] -subset: gard_rare {source="GARD:0000371"} +subset: gard_rare {source="GARD:371"} subset: ordo_disease {source="Orphanet:3010"} synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [DOID:0050740] synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 [] @@ -212539,6 +216727,7 @@ synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096] synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371] synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740] xref: DOID:0050740 {source="MONDO:equivalentTo"} +xref: GARD:371 {source="Orphanet:3010"} xref: ICD10CM:Q87.8 {source="Orphanet:3010/attributed", source="Orphanet:3010/ntbt", source="Orphanet:3010"} xref: MESH:C536259 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} xref: OMIM:600096 {source="DOID:0050740", source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} @@ -212559,6 +216748,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/371/qazi-mar id: MONDO:0010817 name: autosomal dominant nonsyndromic hearing loss 2A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18099"} synonym: "autosomal dominant deafness 2A" NARROW [DOID:0110558] synonym: "autosomal dominant nonsyndromic deafness 2A" NARROW [OMIM:600101] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" NARROW [MONDO:design_pattern] @@ -212569,6 +216759,7 @@ synonym: "deafness, autosomal dominant type 2A" NARROW [MONDORULE:4, OMIM:600101 synonym: "DFNA2A" NARROW ABBREVIATION [DOID:0110558, MONDO:Lexical, OMIM:600101] synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110558 {source="MONDO:equivalentTo"} +xref: GARD:18099 {source="OMIM:600101"} xref: ICD10CM:H90.3 {source="DOID:0110558"} xref: MESH:C567441 {source="MONDO:equivalentTo"} xref: OMIM:600101 {source="DOID:0110558", source="MONDO:equivalentTo"} @@ -212584,7 +216775,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010818 name: retinitis pigmentosa 12 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010376"} +subset: gard_rare {source="GARD:10376"} synonym: "CRB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 12" EXACT [MONDO:Lexical, OMIM:600105] synonym: "retinitis pigmentosa caused by mutation in CRB1" EXACT [MONDO:design_pattern] @@ -212596,6 +216787,7 @@ synonym: "RP with or without Pprpe" RELATED [OMIM:600105] synonym: "RP with or without preserved Paraarteriole retinal pigment epithelium" RELATED [OMIM:600105] synonym: "RP12" EXACT ABBREVIATION [DOID:0110358, MONDO:Lexical, OMIM:600105] xref: DOID:0110358 {source="MONDO:equivalentTo"} +xref: GARD:10376 {source="OMIM:600105"} xref: ICD10CM:H35.5 {source="DOID:0110358", source="MONDO:relatedTo"} xref: MESH:C563999 {source="MONDO:equivalentTo"} xref: OMIM:600105 {source="DOID:0110358", source="MONDO:equivalentTo"} @@ -212610,11 +216802,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10376/retini [Term] id: MONDO:0010819 name: Stargardt disease 3 +subset: gard_rare {source="GARD:15314"} synonym: "macular dystrophy with flecks, type 3" RELATED [OMIM:600110] synonym: "Stargardt disease 3" EXACT [MONDO:Lexical, OMIM:600110] synonym: "Stargardt disease type 3" EXACT [MONDORULE:1, OMIM:600110] synonym: "Stargardt-like macular dystrophy, autosomal dominant" RELATED [OMIM:600110] synonym: "STGD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600110] +xref: GARD:15314 {source="OMIM:600110"} xref: MESH:C535805 {source="MONDO:equivalentTo"} xref: OMIM:600110 {source="MONDO:equivalentTo"} xref: Orphanet:827 {source="OMIM:600110"} @@ -212626,6 +216820,7 @@ property_value: confidence "0.13378684807256236" xsd:double id: MONDO:0010820 name: autosomal recessive juvenile Parkinson disease 2 def: "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." [MESH:D020734] +subset: gard_rare {source="GARD:9642"} synonym: "autosomal recessive juvenile Parkinson disease" RELATED [GARD:0009642] synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive juvenile Parkinson disease type 2" EXACT [DOID:0060368, MONDORULE:1] @@ -212644,6 +216839,7 @@ synonym: "PDJ" RELATED ABBREVIATION [GARD:0009642] synonym: "PRKN young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "young-onset Parkinson disease caused by mutation in PRKN" EXACT [MONDO:design_pattern] xref: DOID:0060368 {source="MONDO:equivalentTo"} +xref: GARD:9642 {source="OMIM:600116"} xref: MESH:D020734 xref: OMIM:600116 {source="MONDO:equivalentTo", source="DOID:0060368"} xref: Orphanet:2828 {source="OMIM:600116"} @@ -212660,7 +216856,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010821 name: familial developmental dysphasia def: "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." [Orphanet:1799] -subset: gard_rare +subset: gard_rare {source="GARD:1823"} subset: ordo_clinical_syndrome {source="Orphanet:1799"} synonym: "Billard-Toutain-Maheut syndrome" EXACT [Orphanet:1799] synonym: "developmental dysphasia familial" RELATED [GARD:0001823] @@ -212668,6 +216864,7 @@ synonym: "developmental language disorder" RELATED [GARD:0001823] synonym: "dysphasia, familial developmental" RELATED [OMIM:600117] synonym: "FOXP2-associated dysphasia" EXACT [Orphanet:1799] synonym: "specific language impairment" RELATED [GARD:0001823] +xref: GARD:1823 {source="Orphanet:1799"} xref: ICD10CM:F80.1 {source="MONDO:relatedTo", source="Orphanet:1799", source="Orphanet:1799/ntbt"} xref: MESH:C563997 {source="MONDO:equivalentTo"} xref: OMIM:600117 {source="MONDO:equivalentTo", source="Orphanet:1799", source="Orphanet:1799/e"} @@ -212707,7 +216904,7 @@ property_value: confidence "0.8609986602670641" xsd:double id: MONDO:0010823 name: rhizomelic chondrodysplasia punctata type 3 def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009682"} +subset: gard_rare {source="GARD:9682"} subset: ordo_etiological_subtype {source="Orphanet:309803"} synonym: "AGPS deficiency" BROAD [DOID:0110853] synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -212718,6 +216915,7 @@ synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT CLINGEN_PREFERRED [OMIM:600121] synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121] xref: DOID:0110853 {source="MONDO:equivalentTo"} +xref: GARD:9682 {source="Orphanet:309803"} xref: ICD10CM:Q77.3 {source="DOID:0110853", source="Orphanet:309803", source="Orphanet:309803/attributed", source="Orphanet:309803/ntbt"} xref: MESH:C537608 {source="MONDO:equivalentTo"} xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e"} @@ -212739,6 +216937,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9682/rhizome id: MONDO:0010824 name: disorder of sex development-intellectual disability syndrome def: "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994." [Orphanet:2983] +subset: gard_rare {source="GARD:4550"} subset: ordo_disease {source="Orphanet:2983"} synonym: "disorder of sex development intellectual disability" RELATED [GARD:0004550] synonym: "Male pseudohermaphroditism intellectual disability syndrome, Verloes type" RELATED [GARD:0004550] @@ -212748,6 +216947,7 @@ synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [Orphane synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550] synonym: "Verloes syndrome" RELATED [OMIM:600122] synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983] +xref: GARD:4550 {source="Orphanet:2983"} xref: ICD10CM:Q56.3 {source="Orphanet:2983/attributed", source="Orphanet:2983/ntbt", source="Orphanet:2983"} xref: MESH:C535693 {source="MONDO:equivalentTo"} xref: OMIM:600122 {source="Orphanet:2983", source="MONDO:equivalentTo", source="Orphanet:2983/e"} @@ -212767,9 +216967,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010825 name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome def: "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." [Orphanet:1352] +subset: gard_rare {source="GARD:2742"} subset: ordo_malformation_syndrome {source="Orphanet:1352"} synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123] synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352] +xref: GARD:2742 {source="Orphanet:1352"} xref: ICD10CM:Q87.8 {source="Orphanet:1352", source="Orphanet:1352/attributed", source="Orphanet:1352/ntbt"} xref: MESH:C563994 {source="MONDO:equivalentTo"} xref: OMIM:600123 {source="Orphanet:1352", source="MONDO:equivalentTo", source="Orphanet:1352/e"} @@ -212787,12 +216989,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010826 name: childhood absence epilepsy def: "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." [Orphanet:64280] +subset: gard_rare {source="GARD:16667"} subset: ordo_disease {source="Orphanet:64280"} subset: predisposition synonym: "absence seizure" RELATED [DOID:1825] synonym: "petit mal seizure" RELATED [DOID:1825] synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280] xref: DOID:1825 {source="MONDO:equivalentTo"} +xref: GARD:16667 {source="Orphanet:64280"} xref: ICD10CM:G40.3 {source="Orphanet:64280/inclusion", source="Orphanet:64280", source="Orphanet:64280/ntbt"} xref: ICD10CM:G40.A {source="DOID:1825"} xref: MESH:D004832 {source="DOID:1825"} @@ -212822,7 +217026,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600131"} ! inheri id: MONDO:0010827 name: retinitis pigmentosa 14 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010385"} +subset: gard_rare {source="GARD:10385"} synonym: "retinitis pigmentosa 14" EXACT [MONDO:Lexical, OMIM:600132] synonym: "retinitis pigmentosa caused by mutation in TULP1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 14" EXACT [DOID:0110381, MONDORULE:2, OMIM:600132] @@ -212830,6 +217034,7 @@ synonym: "RP 14" RELATED [GARD:0010385] synonym: "RP14" EXACT ABBREVIATION [DOID:0110381, MONDO:Lexical, OMIM:600132] synonym: "TULP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110381 {source="MONDO:equivalentTo"} +xref: GARD:10385 {source="OMIM:600132"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110381"} xref: OMIM:600132 {source="DOID:0110381", source="MONDO:equivalentTo"} xref: UMLS:C1838603 {source="OMIM:600132", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -212843,7 +217048,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10385/retini id: MONDO:0010828 name: retinitis pigmentosa 11 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010383"} +subset: gard_rare {source="GARD:10383"} synonym: "PRPF31 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 11" EXACT [MONDO:Lexical, OMIM:600138] synonym: "retinitis pigmentosa caused by mutation in PRPF31" EXACT [MONDO:design_pattern] @@ -212851,6 +217056,7 @@ synonym: "retinitis pigmentosa type 11" EXACT [DOID:0110408, MONDORULE:2, OMIM:6 synonym: "RP 11" RELATED [GARD:0010383] synonym: "RP11" EXACT ABBREVIATION [DOID:0110408, MONDO:Lexical, OMIM:600138] xref: DOID:0110408 {source="MONDO:equivalentTo"} +xref: GARD:10383 {source="OMIM:600138"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110408"} xref: MESH:C563991 {source="MONDO:equivalentTo"} xref: OMIM:600138 {source="DOID:0110408", source="MONDO:equivalentTo"} @@ -212868,6 +217074,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10383/retini id: MONDO:0010829 name: CARASIL syndrome def: "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." [Orphanet:199354] +subset: gard_rare {source="GARD:10424"} subset: ordo_disease {source="Orphanet:199354"} synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600142] synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142] @@ -212877,6 +217084,7 @@ synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RE synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354] synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142] xref: DOID:13945 +xref: GARD:10424 {source="Orphanet:199354"} xref: ICD10CM:F01.1 {source="Orphanet:199354", source="Orphanet:199354/attributed", source="Orphanet:199354/ntbt"} xref: MESH:C563990 {source="MONDO:equivalentTo"} xref: OMIM:600142 {source="Orphanet:199354", source="MONDO:equivalentTo", source="Orphanet:199354/e"} @@ -212894,6 +217102,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010830 name: neuronal ceroid lipofuscinosis 8 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17152"} subset: ordo_etiological_subtype {source="Orphanet:228354"} synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical, OMIM:600143] synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:600143] @@ -212904,6 +217113,7 @@ synonym: "neuronal ceroid lipofuscinosis 8" EXACT CLINGEN_PREFERRED [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1] xref: DOID:0110723 {source="MONDO:equivalentTo"} +xref: GARD:17152 {source="Orphanet:228354"} xref: ICD10CM:E75.4 {source="DOID:0110723", source="Orphanet:228354/attributed", source="Orphanet:228354/ntbt", source="Orphanet:228354"} xref: MESH:C537952 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:600143 {source="DOID:0110723", source="Orphanet:228354/e", source="MONDO:equivalentTo", source="Orphanet:228354"} @@ -212924,7 +217134,7 @@ property_value: confidence "0.625" xsd:double id: MONDO:0010831 name: familial caudal dysgenesis def: "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." [Orphanet:1768] -subset: gard_rare +subset: gard_rare {source="GARD:215"} subset: ordo_malformation_syndrome {source="Orphanet:1768"} synonym: "caudal dysgenesis familial type" RELATED [GARD:0000215] synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751, OMIM:600145] @@ -212937,6 +217147,7 @@ synonym: "sacral defect with anterior meningocele" RELATED [OMIM:600145] synonym: "SDAM" RELATED ABBREVIATION [GARD:0004751] synonym: "Sdam" RELATED [OMIM:600145] synonym: "sirenomelia" RELATED [OMIM:600145] +xref: GARD:215 {source="Orphanet:1768"} xref: ICD10CM:Q87.8 {source="Orphanet:1768/attributed", source="Orphanet:1768/ntbt", source="Orphanet:1768"} xref: NCIT:C99054 {source="MONDO:equivalentTo"} xref: OMIM:600145 {source="GARD:0004751", source="MONDO:equivalentTo"} @@ -212958,11 +217169,12 @@ property_value: confidence "0.12499999999999978" xsd:double [Term] id: MONDO:0010832 name: Bardet-Biedl syndrome 3 -subset: gard_rare {source="GARD:0000822"} +subset: gard_rare {source="GARD:822"} synonym: "Bardet-Biedl syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:600151] synonym: "Bardet-Biedl syndrome type 3" EXACT [DOID:0110125, MONDORULE:1, OMIM:600151] synonym: "BBS3" EXACT ABBREVIATION [DOID:0110125, MONDO:Lexical, OMIM:600151] xref: DOID:0110125 {source="MONDO:equivalentTo"} +xref: GARD:822 {source="OMIM:600151"} xref: ICD10CM:Q87.89 {source="DOID:0110125"} xref: MESH:C537911 {source="MONDO:equivalentTo"} xref: OMIM:600151 {source="MONDO:equivalentTo", source="DOID:0110125"} @@ -212977,6 +217189,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/822/bardet-b id: MONDO:0010833 name: Hirschsprung disease, susceptibility to, 2 def: "An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15315"} subset: predisposition synonym: "EDNRB Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hirschsprung disease caused by mutation in EDNRB" EXACT [MONDO:design_pattern] @@ -212985,6 +217198,7 @@ synonym: "Hirschsprung disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM synonym: "Hirschsprung disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:600155] synonym: "HSCR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600155] synonym: "susceptibility to Hirschsprung disease 2" RELATED [OMIM:600155] +xref: GARD:15315 {source="OMIM:600155"} xref: OMIM:600155 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:600155"} xref: UMLS:C1838564 {source="OMIM:600155", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -212998,9 +217212,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2698/hirschs [Term] id: MONDO:0010834 name: Hirschsprung disease, susceptibility to, 5 +subset: gard_rare {source="GARD:15316"} subset: predisposition synonym: "Hirschsprung disease, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:600156] synonym: "HSCR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600156] +xref: GARD:15316 {source="OMIM:600156"} xref: OMIM:600156 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:600156"} xref: UMLS:C1970723 {source="OMIM:600156", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -213011,12 +217227,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010835 name: pterygium colli-intellectual disability-digital anomalies syndrome def: "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." [Orphanet:2988] +subset: gard_rare {source="GARD:4568"} subset: ordo_malformation_syndrome {source="Orphanet:2988"} synonym: "khalifa-Graham syndrome" EXACT [Orphanet:2988] synonym: "pterygium colli and intellectual disability with facial and digital anomalies" RELATED [OMIM:600159] synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED DEPRECATED [OMIM:600159] synonym: "pterygium colli intellectual disability digital anomalies" RELATED [GARD:0004568] synonym: "pterygium colli mental retardation digital anomalies" RELATED DEPRECATED [GARD:0004568] +xref: GARD:4568 {source="Orphanet:2988"} xref: ICD10CM:Q87.0 {source="Orphanet:2988", source="Orphanet:2988/attributed", source="Orphanet:2988/ntbt"} xref: MESH:C535831 {source="MONDO:equivalentTo"} xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="Orphanet:2988/e"} @@ -213032,6 +217250,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010836 name: nanophthalmos 1 +subset: gard_rare {source="GARD:18625"} synonym: "microphthalmos, simple, autosomal dominant" RELATED [OMIM:600165] synonym: "Nanophthalmia 1" RELATED [OMIM:600165] synonym: "nanophthalmos 1" EXACT [MONDO:Lexical, OMIM:600165] @@ -213039,6 +217258,7 @@ synonym: "nanophthalmos with high hyperopia and angle-closure glaucoma" RELATED synonym: "nanophthalmos, autosomal dominant" RELATED [OMIM:600165] synonym: "nanophthalmos-1" EXACT [OMIM:600165, OMIM:genemap2] synonym: "NNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600165] +xref: GARD:18625 {source="OMIM:600165"} xref: MESH:C563983 {source="MONDO:equivalentTo"} xref: OMIM:600165 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:600165"} @@ -213089,6 +217309,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010839 name: neuronopathy, distal hereditary motor, autosomal dominant 8 def: "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." [Orphanet:1216] +subset: gard_rare {source="GARD:1474"} subset: ordo_disease {source="Orphanet:1216"} synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [Orphanet:1216] synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [Orphanet:1216] @@ -213101,6 +217322,7 @@ synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175] xref: DOID:0111215 {source="MONDO:equivalentTo"} +xref: GARD:1474 {source="Orphanet:1216"} xref: ICD10CM:G12.2 {source="Orphanet:1216", source="Orphanet:1216/attributed", source="Orphanet:1216/ntbt"} xref: MESH:C563981 {source="MONDO:equivalentTo"} xref: OMIM:600175 {source="MONDO:equivalentTo", source="Orphanet:1216", source="Orphanet:1216/e"} @@ -213116,6 +217338,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0010840 name: pachygyria-intellectual disability-epilepsy syndrome def: "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." [Orphanet:2798] +subset: gard_rare {source="GARD:409"} subset: ordo_malformation_syndrome {source="Orphanet:2798"} synonym: "Kuzniecky syndrome" EXACT [Orphanet:2798] synonym: "pachygyria with intellectual disability and seizures" RELATED [OMIM:600176] @@ -213124,6 +217347,7 @@ synonym: "pachygyria with mental retardation and seizures" RELATED DEPRECATED [O synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED DEPRECATED [OMIM:600176] synonym: "pachygyria, intellectual disability and epilepsy" RELATED [GARD:0000409] synonym: "pachygyria, mental retardation and epilepsy" RELATED DEPRECATED [GARD:0000409] +xref: GARD:409 {source="Orphanet:2798"} xref: ICD10CM:G40.4 {source="Orphanet:2798", source="Orphanet:2798/attributed", source="Orphanet:2798/ntbt"} xref: MESH:C538091 {source="MONDO:equivalentTo"} xref: OMIM:600176 {source="MONDO:equivalentTo", source="Orphanet:2798", source="Orphanet:2798/e"} @@ -213139,11 +217363,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010841 name: Waardenburg syndrome type 2B -subset: gard_rare {source="GARD:0005522"} +subset: gard_rare {source="GARD:5522"} synonym: "Waardenburg syndrome type IIB" EXACT [DOID:0110947] synonym: "Waardenburg syndrome, type 2B" RELATED [MONDO:Lexical, OMIM:600193] synonym: "WS2B" EXACT ABBREVIATION [DOID:0110947, MONDO:Lexical, OMIM:600193] xref: DOID:0110947 {source="MONDO:equivalentTo"} +xref: GARD:5522 {source="OMIM:600193"} xref: MESH:C536465 {source="MONDO:equivalentTo"} xref: OMIM:600193 {source="DOID:0110947", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:600193"} @@ -213158,6 +217383,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5522/waarden id: MONDO:0010842 name: multiple cutaneous and mucosal venous malformations def: "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." [Orphanet:2451] +subset: gard_rare {source="GARD:16600"} subset: ordo_malformation_syndrome {source="Orphanet:2451"} synonym: "cutaneous and mucosal venous malformation" EXACT [Orphanet:2451] synonym: "mucocutaneous venous malformations" RELATED [Orphanet:2451] @@ -213165,6 +217391,7 @@ synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:L synonym: "VMCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600195, Orphanet:2451] synonym: "Vmcm1" RELATED [OMIM:600195] xref: DOID:0050792 {source="MONDO:equivalentTo"} +xref: GARD:16600 {source="Orphanet:2451"} xref: ICD10CM:Q27.8 {source="Orphanet:2451", source="Orphanet:2451/attributed", source="Orphanet:2451/ntbt"} xref: MESH:C563977 {source="MONDO:equivalentTo"} xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="Orphanet:2451/e"} @@ -213202,7 +217429,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0010844 name: epiphyseal dysplasia, multiple, 2 def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009791"} +subset: gard_rare {source="GARD:9791"} synonym: "COL9A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "EDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600204] synonym: "epiphyseal dysplasia multiple 2" RELATED [GARD:0009791] @@ -213211,6 +217438,7 @@ synonym: "epiphyseal dysplasia, multiple, type 2" EXACT [MONDORULE:1, OMIM:60020 synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2" EXACT [] synonym: "multiple epiphyseal dysplasia 2" RELATED [GARD:0009791] xref: DOID:0070298 {source="MONDO:equivalentTo"} +xref: GARD:9791 {source="OMIM:600204"} xref: MESH:C535502 {source="MONDO:equivalentTo"} xref: OMIM:600204 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:600204"} @@ -213233,10 +217461,11 @@ replaced_by: MONDO:0007954 [Term] id: MONDO:0010846 name: exostoses, multiple, type III -subset: gard_rare +subset: gard_rare {source="GARD:2206"} synonym: "exostoses, multiple, type 3" RELATED [GARD:0002206] synonym: "exostoses, multiple, type III" EXACT [MONDO:Lexical, OMIM:600209] synonym: "EXT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600209] +xref: GARD:2206 {source="OMIM:600209"} xref: MESH:C563975 {source="MONDO:equivalentTo"} xref: OMIM:600209 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:600209"} @@ -213248,12 +217477,14 @@ property_value: confidence "0.3333333333333335" xsd:double id: MONDO:0010847 name: spinocerebellar ataxia type 4 def: "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." [Orphanet:98765] +subset: gard_rare {source="GARD:9970"} subset: ordo_disease {source="Orphanet:98765"} synonym: "SCA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600223, Orphanet:98765] synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical, OMIM:600223] synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" RELATED [GARD:0009970] synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223] xref: DOID:0050957 {source="MONDO:equivalentTo"} +xref: GARD:9970 {source="Orphanet:98765"} xref: ICD10CM:G11.2 {source="Orphanet:98765", source="Orphanet:98765/attributed", source="Orphanet:98765/ntbt"} xref: OMIM:600223 {source="Orphanet:98765", source="MONDO:equivalentTo", source="Orphanet:98765/e"} xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"} @@ -213266,11 +217497,13 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0010848 name: spinocerebellar ataxia type 5 def: "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." [Orphanet:98766] +subset: gard_rare {source="GARD:4953"} subset: ordo_disease {source="Orphanet:98766"} synonym: "SCA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600224, Orphanet:98766] synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224] synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224] xref: DOID:0050882 {source="MONDO:equivalentTo"} +xref: GARD:4953 {source="Orphanet:98766"} xref: ICD10CM:G11.2 {source="Orphanet:98766/attributed", source="Orphanet:98766/ntbt", source="Orphanet:98766"} xref: OMIM:600224 {source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo", source="Orphanet:98766/e"} xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"} @@ -213283,9 +217516,11 @@ property_value: confidence "14.833333333333332" xsd:double [Term] id: MONDO:0010849 name: palmoplantar keratoderma, Bothnian type +subset: gard_rare {source="GARD:1862"} synonym: "palmoplantar keratoderma, Bothnian type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:600231] synonym: "PPKB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600231] xref: DOID:0111707 {source="MONDO:equivalentTo"} +xref: GARD:1862 {source="Orphanet:2337"} xref: OMIM:600231 {source="MONDO:equivalentTo"} xref: Orphanet:2337 {source="OMIM:600231", source="MONDO:equivalentTo"} xref: UMLS:C1838359 {source="OMIM:600231", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -213300,12 +217535,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010850 name: Tessier number 4 facial cleft +subset: gard_rare {source="GARD:16974"} subset: ordo_morphological_anomaly {source="Orphanet:141258"} synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251] synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251] synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600251] synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] xref: DOID:0111706 {source="MONDO:equivalentTo"} +xref: GARD:16974 {source="Orphanet:141258"} xref: ICD10CM:Q18.8 {source="Orphanet:141258", source="Orphanet:141258/attributed", source="Orphanet:141258/ntbt"} xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="Orphanet:141258/e"} xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"} @@ -213318,11 +217555,13 @@ property_value: confidence "0.0" xsd:double id: MONDO:0010851 name: Lowry-MacLean syndrome def: "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." [Orphanet:2409] +subset: gard_rare {source="GARD:3300"} subset: ordo_malformation_syndrome {source="Orphanet:2409"} synonym: "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED [GARD:0003300] synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300] synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252] synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300] +xref: GARD:3300 {source="Orphanet:2409"} xref: ICD10CM:Q87.8 {source="Orphanet:2409/attributed", source="Orphanet:2409/ntbt", source="Orphanet:2409"} xref: MESH:C537037 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: OMIM:600252 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} @@ -213374,6 +217613,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010854 name: Toriello-Lacassie-Droste syndrome def: "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." [Orphanet:3339] +subset: gard_rare {source="GARD:10366"} subset: ordo_malformation_syndrome {source="Orphanet:3339"} synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [OMIM:600268] synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [Orphanet:3339] @@ -213383,6 +217623,7 @@ synonym: "oculoectodermal syndrome, somatic" EXACT [OMIM:600268, OMIM:genemap2] synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268] synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366] xref: DOID:0111705 {source="MONDO:equivalentTo"} +xref: GARD:10366 {source="Orphanet:3339"} xref: MESH:C563969 {source="MONDO:equivalentTo"} xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source="Orphanet:3339/e"} xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"} @@ -213396,12 +217637,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010855 name: short tarsus-absence of lower eyelashes syndrome def: "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." [Orphanet:2832] +subset: gard_rare {source="GARD:296"} subset: ordo_malformation_syndrome {source="Orphanet:2832"} synonym: "Lopes Gorlin syndrome" RELATED [GARD:0000296] synonym: "Lopes-Gorlin syndrome" EXACT [Orphanet:2832] synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296] synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269] synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269] +xref: GARD:296 {source="Orphanet:2832"} xref: ICD10CM:Q87.2 {source="Orphanet:2832", source="Orphanet:2832/attributed", source="Orphanet:2832/ntbt"} xref: MESH:C537036 {source="MONDO:equivalentTo"} xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="Orphanet:2832/e"} @@ -213417,6 +217660,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0010856 name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis def: "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." [Orphanet:88924] +subset: gard_rare {source="GARD:9481"} subset: ordo_disease {source="Orphanet:88924"} synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [OMIM:600273] synonym: "PKDTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600273] @@ -213424,6 +217668,7 @@ synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED [GARD:0009481] synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481] synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924] +xref: GARD:9481 {source="Orphanet:88924"} xref: MESH:C536328 {source="MONDO:equivalentTo"} xref: OMIM:600273 {source="MONDO:equivalentTo", source="Orphanet:88924", source="Orphanet:88924/e"} xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"} @@ -213437,6 +217682,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0010857 name: semantic dementia def: "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." [Orphanet:100069] +subset: gard_rare {source="GARD:10792"} subset: ordo_disease {source="Orphanet:100069"} synonym: "dementia, frontotemporal" EXACT [OMIM:600274, OMIM:genemap2] synonym: "dementia, frontotemporal, with or without parkinsonism" EXACT [OMIM:600274, OMIM:genemap2] @@ -213455,6 +217701,7 @@ synonym: "Pick Complex" RELATED [OMIM:600274] synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069] synonym: "semantic variant PPA" EXACT [Orphanet:100069] synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274] +xref: GARD:10792 {source="Orphanet:100069"} xref: ICD10CM:G31.0 {source="Orphanet:100069/attributed", source="Orphanet:100069/ntbt", source="Orphanet:100069"} xref: OMIM:600274 {source="Orphanet:100069", source="MONDO:equivalentTo"} xref: Orphanet:100069 {source="MONDO:equivalentTo"} @@ -213472,9 +217719,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010858 name: macrocephaly-spastic paraplegia-dysmorphism syndrome def: "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." [Orphanet:2429] +subset: gard_rare {source="GARD:16598"} subset: ordo_malformation_syndrome {source="Orphanet:2429"} synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429] synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302] +xref: GARD:16598 {source="Orphanet:2429"} xref: ICD10CM:Q87.8 {source="Orphanet:2429", source="Orphanet:2429/attributed", source="Orphanet:2429/ntbt"} xref: MESH:C563963 {source="MONDO:equivalentTo"} xref: OMIM:600302 {source="Orphanet:2429/e", source="MONDO:equivalentTo", source="Orphanet:2429"} @@ -213510,6 +217759,7 @@ is_obsolete: true id: MONDO:0010860 name: autosomal recessive nonsyndromic hearing loss 3 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22583"} synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" NARROW [DOID:0110488] synonym: "autosomal recessive nonsyndromic deafness 3" NARROW CLINGEN_PREFERRED [OMIM:600316] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" NARROW [MONDO:design_pattern] @@ -213521,6 +217771,7 @@ synonym: "MYO15A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design synonym: "neurosensory nonsyndromic recessive deafness 3" NARROW [OMIM:600316] synonym: "NRSD3" NARROW ABBREVIATION [DOID:0110488] xref: DOID:0110488 {source="MONDO:equivalentTo"} +xref: GARD:22583 {source="OMIM:600316"} xref: ICD10CM:H90.3 {source="DOID:0110488"} xref: MESH:C563961 {source="MONDO:equivalentTo"} xref: OMIM:600316 {source="MONDO:equivalentTo", source="DOID:0110488"} @@ -213614,12 +217865,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010865 name: pseudoaminopterin syndrome def: "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." [Orphanet:221120] -subset: gard_rare {source="GARD:0004544"} +subset: gard_rare {source="GARD:4544"} subset: ordo_malformation_syndrome {source="Orphanet:221120"} synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical, OMIM:600325] synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120] synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120] synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325] +xref: GARD:4544 {source="Orphanet:221120"} xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"} xref: MESH:C535823 {source="MONDO:equivalentTo"} xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="Orphanet:221120/e"} @@ -213641,9 +217893,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4544/pseudoa id: MONDO:0010866 name: infantile osteopetrosis with neuroaxonal dysplasia def: "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." [Orphanet:85179] +subset: gard_rare {source="GARD:10082"} subset: ordo_malformation_syndrome {source="Orphanet:85179"} synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329] xref: DOID:0070343 {source="MONDO:equivalentTo"} +xref: GARD:10082 {source="Orphanet:85179"} xref: ICD10CM:Q78.2 {source="Orphanet:85179/attributed", source="Orphanet:85179/ntbt", source="Orphanet:85179"} xref: MESH:C536055 {source="MONDO:equivalentTo"} xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="Orphanet:85179/e"} @@ -213657,11 +217911,12 @@ property_value: confidence "0.29629629629629606" xsd:double id: MONDO:0010867 name: PARC syndrome def: "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." [Orphanet:2825] -subset: gard_rare {source="GARD:0004223"} +subset: gard_rare {source="GARD:4223"} subset: ordo_malformation_syndrome {source="Orphanet:2825"} synonym: "PARC syndrome" EXACT [OMIM:600331] synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331] synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825] +xref: GARD:4223 {source="Orphanet:2825"} xref: ICD10CM:Q87.8 {source="Orphanet:2825", source="Orphanet:2825/attributed", source="Orphanet:2825/ntbt"} xref: MESH:C537174 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} xref: OMIM:600331 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} @@ -213674,11 +217929,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4223/parc-sy [Term] id: MONDO:0010868 name: rippling muscle disease 1 +subset: gard_rare {source="GARD:9165"} synonym: "rippling muscle disease 1" EXACT [MONDO:Lexical, OMIM:600332] synonym: "rippling muscle disease, 1" RELATED [GARD:0009165] synonym: "rippling muscle disease-1" EXACT [OMIM:600332, OMIM:genemap2] synonym: "RMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600332] xref: DOID:0070308 {source="MONDO:equivalentTo"} +xref: GARD:9165 {source="OMIM:600332"} xref: OMIM:600332 {source="MONDO:equivalentTo"} xref: Orphanet:97238 {source="OMIM:600332"} xref: UMLS:C1838254 {source="OMIM:600332", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -213701,6 +217958,7 @@ relationship: disease_has_feature MONDO:0003425 {source="MESH:C563954"} ! ophtha id: MONDO:0010870 name: tibial muscular dystrophy def: "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:609] +subset: gard_rare {source="GARD:13154"} subset: ordo_disease {source="Orphanet:609"} synonym: "distal myopathy, Udd type" EXACT [Orphanet:609] synonym: "distal titinopathy" EXACT [DOID:0111078, Orphanet:609] @@ -213712,6 +217970,7 @@ synonym: "Tmd" RELATED [OMIM:600334] synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609] synonym: "Udd type distal myopathy" EXACT [DOID:0111078] xref: DOID:0111078 {source="MONDO:equivalentTo"} +xref: GARD:13154 {source="Orphanet:609"} xref: ICD10CM:G71.0 {source="DOID:0111078", source="Orphanet:609", source="Orphanet:609/attributed", source="Orphanet:609/ntbt"} xref: MESH:C536815 {source="Orphanet:609/e", source="DOID:0111078", source="Orphanet:609"} xref: OMIM:600334 {source="Orphanet:609/e", source="MONDO:equivalentTo", source="DOID:0111078", source="Orphanet:609"} @@ -213749,9 +218008,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010873 name: band heterotopia of brain comment: Editor check: TODO +subset: gard_rare {source="GARD:2250"} synonym: "band heterotopia" RELATED [OMIM:600348] synonym: "band heterotopia of brain" EXACT [OMIM:600348] synonym: "BH" RELATED ABBREVIATION [OMIM:600348] +xref: GARD:2250 {source="OMIM:600348"} xref: MESH:C563950 {source="MONDO:equivalentTo"} xref: OMIM:600348 {source="MONDO:equivalentTo"} xref: Orphanet:99796 {source="OMIM:600348"} @@ -213782,7 +218043,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010876 name: recessive aplasia cutis congenita of limbs def: "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." [Orphanet:1115] -subset: gard_rare {source="GARD:0000754"} subset: ordo_disease {source="Orphanet:1115"} synonym: "aplasia cutis congenita of limbs recessive" RELATED [GARD:0000754] synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:600360] @@ -213803,6 +218063,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/754/aplasia- id: MONDO:0010877 name: Charcot-Marie-Tooth disease type 5 def: "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." [Orphanet:64751] +subset: gard_rare {source="GARD:9208"} subset: ordo_disease {source="Orphanet:64751"} synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [OMIM:600361] synonym: "Charcot-Marie-Tooth disease-pyramidal features syndrome" EXACT [Orphanet:64751] @@ -213816,6 +218077,7 @@ synonym: "HMSN 5" EXACT [OMIM:600361, Orphanet:64751] synonym: "HMSN5" RELATED ABBREVIATION [OMIM:600361] synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] xref: DOID:0080067 {source="MONDO:equivalentTo"} +xref: GARD:9208 {source="Orphanet:64751"} xref: ICD10CM:G60.0 {source="Orphanet:64751", source="Orphanet:64751/attributed", source="Orphanet:64751/ntbt"} xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="Orphanet:64751/e"} xref: Orphanet:64751 {source="MONDO:equivalentTo", source="OMIM:600361"} @@ -213831,6 +218093,7 @@ property_value: confidence "3.333333333333334" xsd:double id: MONDO:0010878 name: hereditary spastic paraplegia 6 def: "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." [Orphanet:100988] +subset: gard_rare {source="GARD:4928"} subset: ordo_disease {source="Orphanet:100988"} synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811, Orphanet:100988] synonym: "autosomal dominant spastic paraplegia 6" EXACT [DOID:0110811] @@ -213845,6 +218108,7 @@ synonym: "spastic paraplegia 6" RELATED [GARD:0004928] synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363] synonym: "SPG6" EXACT ABBREVIATION [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988] xref: DOID:0110811 {source="MONDO:equivalentTo"} +xref: GARD:4928 {source="Orphanet:100988"} xref: ICD10CM:G11.4 {source="DOID:0110811", source="Orphanet:100988/attributed", source="Orphanet:100988/ntbt", source="Orphanet:100988"} xref: MESH:C536866 {source="Orphanet:100988/e", source="MONDO:equivalentTo", source="Orphanet:100988"} xref: OMIM:600363 {source="Orphanet:100988/e", source="DOID:0110811", source="MONDO:equivalentTo", source="Orphanet:100988"} @@ -213862,7 +218126,7 @@ property_value: confidence "28.99999999999997" xsd:double id: MONDO:0010879 name: CODAS syndrome def: "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." [Orphanet:1458] -subset: gard_rare {source="GARD:0001418"} +subset: gard_rare {source="GARD:1418"} subset: ordo_malformation_syndrome {source="Orphanet:1458"} synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [OMIM:600373] synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" RELATED [GARD:0001418] @@ -213870,6 +218134,7 @@ synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" RELATED [GARD:0001418] synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458] synonym: "CODAS syndrome" EXACT [OMIM:600373] xref: DOID:0111274 {source="MONDO:equivalentTo"} +xref: GARD:1418 {source="Orphanet:1458"} xref: ICD10CM:Q87.8 {source="Orphanet:1458", source="Orphanet:1458/attributed", source="Orphanet:1458/ntbt"} xref: MESH:C536434 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"} xref: NCIT:C126744 {source="MONDO:equivalentTo"} @@ -213891,7 +218156,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1418/codas-s id: MONDO:0010880 name: telangiectasia, hereditary hemorrhagic, type 2 def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009901"} +subset: gard_rare {source="GARD:9901"} synonym: "ACVRL1 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1" EXACT [MONDO:design_pattern] synonym: "hereditary hemorrhagic telangiectasia type 2" RELATED [GARD:0009901] @@ -213901,6 +218166,7 @@ synonym: "Osler Weber Rendu syndrome type 2" RELATED [GARD:0009901] synonym: "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related" RELATED [OMIM:600376] synonym: "telangiectasia hereditary hemorrhagic type 2" RELATED [GARD:0009901] synonym: "telangiectasia, hereditary hemorrhagic, type 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:600376] +xref: GARD:9901 {source="OMIM:600376"} xref: OMIM:600376 {source="MONDO:equivalentTo"} xref: Orphanet:774 {source="OMIM:600376"} xref: UMLS:C1832529 {source="OMIM:600376", source="MONDO:notFoundInDiseaseSubset"} @@ -213917,7 +218183,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9901/heredit id: MONDO:0010881 name: mesomelia-synostoses syndrome def: "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:2496] -subset: gard_rare {source="GARD:0004302"} +subset: gard_rare {source="GARD:4302"} subset: ordo_malformation_syndrome {source="Orphanet:2496"} synonym: "8q13 microdeletion syndrome" EXACT [Orphanet:2496] synonym: "chromosome 8Q13 deletion syndrome" RELATED [OMIM:600383] @@ -213930,6 +218196,7 @@ synonym: "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383] synonym: "monosomy 8q13" EXACT [Orphanet:2496] synonym: "Verloes-David syndrome" EXACT [Orphanet:2496] +xref: GARD:4302 {source="Orphanet:2496"} xref: ICD10CM:Q74.8 {source="Orphanet:2496", source="Orphanet:2496/attributed", source="Orphanet:2496/ntbt"} xref: MESH:C537348 {source="MONDO:equivalentTo"} xref: OMIM:600383 {source="Orphanet:2496", source="MONDO:equivalentTo", source="Orphanet:2496/e"} @@ -213949,12 +218216,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4302/mesomel id: MONDO:0010882 name: aphalangy-syndactyly-microcephaly syndrome def: "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." [Orphanet:1113] -subset: gard_rare +subset: gard_rare {source="GARD:748"} subset: ordo_malformation_syndrome {source="Orphanet:1113"} synonym: "Aphalangia partial with syndactyly and duplication of metatarsal IV" RELATED [GARD:0000748] synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [OMIM:600384] synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384] synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384] +xref: GARD:748 {source="Orphanet:1113"} xref: ICD10CM:Q87.2 {source="Orphanet:1113/attributed", source="Orphanet:1113/ntbt", source="Orphanet:1113"} xref: MESH:C563942 {source="MONDO:equivalentTo"} xref: OMIM:600384 {source="Orphanet:1113", source="MONDO:equivalentTo", source="Orphanet:1113/e", source="GARD:0000748"} @@ -213969,12 +218237,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/748/aphalang id: MONDO:0010883 name: pectus excavatum-macrocephaly-dysplastic nails syndrome def: "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." [Orphanet:2835] +subset: gard_rare {source="GARD:374"} subset: ordo_malformation_syndrome {source="Orphanet:2835"} synonym: "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" RELATED [GARD:0000374] synonym: "pectus excavatum, macrocephaly and dysplastic nails" RELATED [GARD:0000374] synonym: "pectus excavatum, macrocephaly, short stature, and dysplastic nails" RELATED [OMIM:600399] synonym: "Zori Stalker Williams syndrome" RELATED [GARD:0000374] synonym: "Zori-Stalker-Williams syndrome" EXACT [Orphanet:2835] +xref: GARD:374 {source="Orphanet:2835"} xref: MESH:C536728 {source="MONDO:equivalentTo"} xref: OMIM:600399 {source="Orphanet:2835/e", source="MONDO:equivalentTo", source="Orphanet:2835"} xref: Orphanet:2835 {source="OMIM:600399", source="MONDO:equivalentTo"} @@ -213989,7 +218259,9 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0010884 name: muscular dystrophy, scapulohumeral +subset: gard_rare {source="GARD:15317"} synonym: "muscular dystrophy, scapulohumeral" EXACT [OMIM:600416] +xref: GARD:15317 {source="OMIM:600416"} xref: MESH:C562932 {source="MONDO:equivalentTo"} xref: OMIM:600416 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="OMIM:600416"} @@ -214011,6 +218283,7 @@ is_a: MONDO:0003847 {source="MESH:C563940/inferred"} ! hereditary disease id: MONDO:0010886 name: 2q37 microdeletion syndrome def: "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:1001] +subset: gard_rare {source="GARD:10202"} subset: ordo_malformation_syndrome {source="Orphanet:1001"} synonym: "2q37 deletion syndrome" RELATED [GARD:0010202] synonym: "2q37 microdeletion syndrome" EXACT CLINGEN_PREFERRED [] @@ -214029,6 +218302,7 @@ synonym: "deletion 2q37-qter" EXACT [Orphanet:1001] synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001] xref: DECIPHER:44 {source="MONDO:equivalentTo"} xref: DOID:0111704 {source="MONDO:equivalentTo"} +xref: GARD:10202 {source="Orphanet:1001"} xref: ICD10CM:Q93.5 {source="Orphanet:1001/attributed", source="Orphanet:1001/ntbt", source="Orphanet:1001"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538317 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"} @@ -214055,7 +218329,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010887 name: isolated anterior cervical hypertrichosis def: "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." [Orphanet:3387] -subset: gard_rare {source="GARD:0008438"} +subset: gard_rare {source="GARD:8438"} subset: ordo_disease {source="Orphanet:3387"} synonym: "anterior cervical hypertrichosis" RELATED [GARD:0008438] synonym: "hairy throat" RELATED [GARD:0008438] @@ -214063,6 +218337,7 @@ synonym: "hairy throat syndrome" EXACT [Orphanet:3387] synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457] synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438] synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387] +xref: GARD:8438 {source="Orphanet:3387"} xref: ICD10CM:L68.2 {source="Orphanet:3387", source="Orphanet:3387/attributed", source="Orphanet:3387/ntbt"} xref: MESH:C538390 {source="MONDO:equivalentTo"} xref: OMIM:600457 {source="Orphanet:3387", source="MONDO:equivalentTo", source="Orphanet:3387/e"} @@ -214114,8 +218389,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010889 name: arterial dissection-lentiginosis syndrome def: "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." [Orphanet:1682] +subset: gard_rare {source="GARD:16577"} subset: ordo_malformation_syndrome {source="Orphanet:1682"} synonym: "arterial dissection with lentiginosis" RELATED [OMIM:600459] +xref: GARD:16577 {source="Orphanet:1682"} xref: ICD10CM:Q87.8 {source="Orphanet:1682", source="Orphanet:1682/ntbt"} xref: MESH:C563937 {source="MONDO:equivalentTo"} xref: OMIM:600459 {source="Orphanet:1682", source="MONDO:equivalentTo", source="Orphanet:1682/e"} @@ -214128,7 +218405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010890 name: acrocardiofacial syndrome def: "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." [Orphanet:2008] -subset: gard_rare +subset: gard_rare {source="GARD:1167"} subset: ordo_malformation_syndrome {source="Orphanet:2008"} synonym: "ACFS" EXACT ABBREVIATION [Orphanet:2008] synonym: "acrocardiofacial syndrome" EXACT [OMIM:600460] @@ -214137,6 +218414,7 @@ synonym: "CCGE syndrome" EXACT [Orphanet:2008] synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008] xref: DOID:0070419 {source="MONDO:equivalentTo"} +xref: GARD:1167 {source="Orphanet:2008"} xref: ICD10CM:Q87.8 {source="Orphanet:2008", source="Orphanet:2008/attributed", source="Orphanet:2008/ntbt"} xref: MESH:C563936 {source="MONDO:equivalentTo"} xref: OMIM:600460 {source="MONDO:equivalentTo", source="Orphanet:2008", source="Orphanet:2008/e"} @@ -214152,11 +218430,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010891 name: lethal hemolytic anemia-genital anomalies syndrome def: "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." [Orphanet:1046] +subset: gard_rare {source="GARD:2642"} subset: ordo_malformation_syndrome {source="Orphanet:1046"} synonym: "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED OMO:0003005 [] synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642] synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461] synonym: "water-West syndrome" EXACT [Orphanet:1046] +xref: GARD:2642 {source="Orphanet:1046"} xref: ICD10CM:D58.8 {source="Orphanet:1046", source="Orphanet:1046/attributed", source="Orphanet:1046/ntbt"} xref: MESH:C563935 {source="MONDO:equivalentTo"} xref: OMIM:600461 {source="Orphanet:1046", source="MONDO:equivalentTo", source="Orphanet:1046/e"} @@ -214177,7 +218457,7 @@ replaced_by: MONDO:0000863 [Term] id: MONDO:0010893 name: malignant hyperthermia, susceptibility to, 4 -subset: gard_rare +subset: gard_rare {source="GARD:3366"} subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 4" RELATED [GARD:0003366, MESH:C535697] synonym: "malignant hyperthermia susceptibility 4" EXACT [OMIM:600467, OMIM:genemap2] @@ -214186,6 +218466,7 @@ synonym: "malignant hyperthermia, susceptibility to, 4" EXACT [MESH:C535697, OMI synonym: "malignant hyperthermia, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:600467] synonym: "MHS4" RELATED ABBREVIATION [GARD:0003366, MESH:C535697] synonym: "Mhs4" RELATED [OMIM:600467] +xref: GARD:3366 {source="OMIM:600467"} xref: MESH:C535697 {source="MONDO:equivalentTo"} xref: OMIM:600467 {source="GARD:0003366", source="MONDO:equivalentTo"} xref: Orphanet:423 {source="GARD:0003366", source="OMIM:600467"} @@ -214201,7 +218482,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3366/maligna id: MONDO:0010894 name: maturity-onset diabetes of the young type 3 def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." [NCIT:C129742] -subset: gard_rare {source="GARD:0010658"} +subset: gard_rare {source="GARD:10658"} synonym: "diabetes mellitus MODY type 3" RELATED [GARD:0010658] synonym: "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" EXACT [NCIT:C129742] synonym: "HNF1A maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -214216,6 +218497,7 @@ synonym: "MODY, type III" EXACT [OMIM:600496, OMIM:genemap2] synonym: "MODY3" EXACT ABBREVIATION [DOID:0111102, MONDO:Lexical, OMIM:600496] synonym: "type 3 maturity-onset diabetes of the young" RELATED [GARD:0010658] xref: DOID:0111102 {source="MONDO:equivalentTo"} +xref: GARD:10658 {source="OMIM:600496"} xref: MESH:C563933 {source="MONDO:equivalentTo"} xref: NCIT:C129742 {source="MONDO:equivalentTo"} xref: OMIM:600496 {source="MONDO:equivalentTo", source="DOID:0111102"} @@ -214256,7 +218538,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010896 name: pigment dispersion syndrome def: "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." [https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome] -subset: gard_rare {source="GARD:0004356"} synonym: "glaucoma, pigment-dispersion type" RELATED [OMIM:600510] synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical, OMIM:600510] synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680] @@ -214293,6 +218574,7 @@ id: MONDO:0010898 name: autosomal dominant epilepsy with auditory features def: "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." [Orphanet:101046] comment: Editor note: split out generic type +subset: gard_rare {source="GARD:2257"} subset: ordo_disease {source="Orphanet:101046"} synonym: "ADEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADLTE" EXACT ABBREVIATION [Orphanet:101046] @@ -214312,6 +218594,7 @@ synonym: "familial temporal lobe epilepsy type 1" NARROW [DOID:0060748, MONDORUL synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046] synonym: "partial epilepsy with auditory features" EXACT [DOID:0060748, Orphanet:101046] xref: DOID:0060748 {source="MONDO:equivalentTo"} +xref: GARD:2257 {source="Orphanet:101046"} xref: MESH:C537297 {source="MONDO:equivalentTo"} xref: NCIT:C141441 xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"} @@ -214327,6 +218610,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010899 name: autosomal dominant nocturnal frontal lobe epilepsy 1 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15319"} synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [DOID:0060682, MONDORULE:1] synonym: "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -214335,6 +218619,7 @@ synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical, OMIM:6005 synonym: "epilepsy, nocturnal frontal lobe, type 1" EXACT [MONDORULE:1, OMIM:600513] synonym: "nocturnal frontal lobe epilepsy 1" EXACT [DOID:0060682] xref: DOID:0060682 {source="MONDO:equivalentTo"} +xref: GARD:15319 {source="OMIM:600513"} xref: MESH:C563930 {source="MONDO:equivalentTo"} xref: OMIM:600513 {source="DOID:0060682", source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="OMIM:600513"} @@ -214349,8 +218634,9 @@ property_value: confidence "4.0" xsd:double [Term] id: MONDO:0010900 name: intrauterine growth retardation with increased mitomycin c sensitivity -subset: gard_rare {source="GARD:0005593"} +subset: gard_rare {source="GARD:5593"} synonym: "intrauterine growth retardation with increased mitomycin c sensitivity" EXACT [OMIM:600546] +xref: GARD:5593 {source="OMIM:600546"} xref: MESH:C536744 {source="MONDO:equivalentTo"} xref: OMIM:600546 {source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:600546"} @@ -214366,12 +218652,13 @@ id: MONDO:0010901 name: HEC syndrome def: "HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed." [Orphanet:2119] comment: Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy -subset: gard_rare {source="GARD:0002620"} +subset: gard_rare {source="GARD:2620"} subset: ordo_malformation_syndrome {source="Orphanet:2119"} synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" RELATED [GARD:0002620] synonym: "HEC syndrome" EXACT [OMIM:600559] synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [OMIM:600559] synonym: "hydrocephalus-endocardial fibroelastosis-cataract syndrome" EXACT [Orphanet:2119] +xref: GARD:2620 {source="Orphanet:2119"} xref: ICD10CM:Q87.8 {source="Orphanet:2119", source="Orphanet:2119/attributed", source="Orphanet:2119/ntbt"} xref: MESH:C535855 {source="MONDO:equivalentTo"} xref: OMIM:600559 {source="MONDO:equivalentTo", source="Orphanet:2119", source="Orphanet:2119/e"} @@ -214386,8 +218673,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2620/hec-syn id: MONDO:0010902 name: spondyloepiphyseal dysplasia, Reardon type def: "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." [Orphanet:163662] +subset: gard_rare {source="GARD:16994"} subset: ordo_disease {source="Orphanet:163662"} synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561] +xref: GARD:16994 {source="Orphanet:163662"} xref: ICD10CM:Q77.7 {source="Orphanet:163662", source="Orphanet:163662/attributed", source="Orphanet:163662/ntbt"} xref: MESH:C563472 {source="MONDO:equivalentTo"} xref: OMIM:600561 {source="MONDO:equivalentTo", source="Orphanet:163662", source="Orphanet:163662/e"} @@ -214419,7 +218708,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010905 name: cone-rod dystrophy 1 -subset: gard_rare {source="GARD:0010651"} +subset: gard_rare {source="GARD:10651"} synonym: "cone-rod dystrophy 1" EXACT [MONDO:Lexical, OMIM:600624] synonym: "cone-rod dystrophy type 1" EXACT [DOID:0111009, MONDORULE:1] synonym: "cone-rod retinal dystrophy-1" EXACT [OMIM:600624, OMIM:genemap2] @@ -214427,6 +218716,7 @@ synonym: "CORD1" EXACT ABBREVIATION [DOID:0111009, MONDO:Lexical, OMIM:600624] synonym: "CRD1" EXACT ABBREVIATION [DOID:0111009] synonym: "Crd1" RELATED [OMIM:600624] xref: DOID:0111009 {source="MONDO:equivalentTo"} +xref: GARD:10651 {source="OMIM:600624"} xref: MESH:C563469 {source="MONDO:equivalentTo"} xref: OMIM:600624 {source="DOID:0111009", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:600624"} @@ -214439,6 +218729,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10651/cone-r id: MONDO:0010906 name: orofacial cleft 11 def: "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18303"} synonym: "BMP4 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625] synonym: "cleft Lip, congenital Healed" RELATED [OMIM:600625] @@ -214448,6 +218739,7 @@ synonym: "orofacial cleft 11" EXACT [MONDO:Lexical, OMIM:600625] synonym: "orofacial cleft caused by mutation in BMP4" EXACT [MONDO:design_pattern] synonym: "orofacial cleft type 11" EXACT [MONDORULE:2, OMIM:600625] xref: DOID:0080404 {source="MONDO:equivalentTo"} +xref: GARD:18303 {source="OMIM:600625"} xref: OMIM:600625 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:600625"} xref: UMLS:C1833563 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600625"} @@ -214464,13 +218756,14 @@ property_value: confidence "1.7876687750502525" xsd:double id: MONDO:0010907 name: familial hypertryptophanemia def: "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." [Orphanet:2224] -subset: gard_rare {source="GARD:0002871"} +subset: gard_rare {source="GARD:2871"} subset: ordo_disease {source="Orphanet:2224"} synonym: "familial hypertryptophanemia" EXACT CLINGEN_PREFERRED [] synonym: "hypertryptophanemia" BROAD [OMIM:600627, OMIM:genemap2] synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627] synonym: "HYPTRP" RELATED ABBREVIATION [OMIM:600627] xref: DOID:0111703 {source="MONDO:equivalentTo"} +xref: GARD:2871 {source="Orphanet:2224"} xref: ICD10CM:E70.8 {source="Orphanet:2224/attributed", source="Orphanet:2224/ntbt", source="Orphanet:2224"} xref: MESH:C538393 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} xref: OMIM:600627 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} @@ -214488,9 +218781,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2871/hypertr id: MONDO:0010908 name: loose anagen syndrome def: "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." [Orphanet:168] +subset: gard_rare {source="GARD:3287"} subset: ordo_disease {source="Orphanet:168"} synonym: "loose anagen hair syndrome" RELATED [OMIM:600628] xref: DOID:0111702 {source="MONDO:equivalentTo"} +xref: GARD:3287 {source="Orphanet:168"} xref: ICD10CM:L65.1 {source="Orphanet:168/attributed", source="Orphanet:168/ntbt", source="Orphanet:168"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058247 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} @@ -214506,11 +218801,13 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0010909 name: UV-sensitive syndrome 1 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15320"} synonym: "ERCC6 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, OMIM:600630] synonym: "UV-sensitive syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1, OMIM:600630] synonym: "UVSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600630] +xref: GARD:15320 {source="OMIM:600630"} xref: NCIT:C173106 {source="MONDO:equivalentTo"} xref: OMIM:600630 {source="MONDO:equivalentTo"} xref: Orphanet:178338 {source="OMIM:600630"} @@ -214539,6 +218836,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010911 name: prolactin-producing pituitary gland adenoma def: "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." [Orphanet:2965] +subset: gard_rare {source="GARD:4508"} subset: ordo_disease {source="Orphanet:2965"} synonym: "familial prolactinoma" EXACT [DOID:5394] synonym: "Forbes-Albright syndrome (formerly)" RELATED [GARD:0004508] @@ -214575,6 +218873,7 @@ synonym: "prolactinoma of the pituitary gland" EXACT [NCIT:C3342] synonym: "prolactinoma, familial" RELATED [OMIM:600634] xref: DOID:5394 {source="MONDO:equivalentTo"} xref: EFO:1000496 {source="MONDO:equivalentTo"} +xref: GARD:4508 {source="Orphanet:2965"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} xref: ICDO:8271/0 {source="NCIT:C3342"} @@ -214599,6 +218898,7 @@ property_value: confidence "0.3500000000000001" xsd:double id: MONDO:0010912 name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15321"} synonym: "CFEOM3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600638] synonym: "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" EXACT [MONDO:design_pattern] synonym: "Feom3 locus" RELATED [OMIM:600638] @@ -214606,6 +218906,7 @@ synonym: "fibrosis of extraocular muscles, congenital, 3A" EXACT [OMIM:600638, O synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" EXACT [MONDO:Lexical, OMIM:600638] synonym: "TUBB3 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081017 {source="MONDO:equivalentTo"} +xref: GARD:15321 {source="OMIM:600638"} xref: MESH:C567572 {source="MONDO:equivalentTo"} xref: OMIM:600638 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:600638"} @@ -214624,7 +218925,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010913 name: Caroli disease def: "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." [Orphanet:53035] -subset: gard_rare {source="GARD:0006002"} +subset: gard_rare {source="GARD:6002"} subset: ordo_malformation_syndrome {source="Orphanet:53035"} synonym: "Caroli disease isolated" RELATED [GARD:0006002] synonym: "CAROLI disease, isolated" RELATED [OMIM:600643] @@ -214632,6 +218933,7 @@ synonym: "congenital polycystic dilatation of intrahepatic bile ducts" RELATED [ synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006002] xref: DOID:0050876 {source="MONDO:equivalentTo"} xref: EFO:1001286 {source="MONDO:equivalentTo"} +xref: GARD:6002 {source="Orphanet:53035"} xref: ICD10CM:Q44.6 {source="Orphanet:53035", source="Orphanet:53035/attributed", source="Orphanet:53035/ntbt"} xref: MedDRA:10013003 {source="Orphanet:53035", source="Orphanet:53035/e"} xref: MESH:C531647 {source="Orphanet:53035", source="Orphanet:53035/e"} @@ -214652,6 +218954,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6002/caroli- id: MONDO:0010914 name: carnitine palmitoyl transferase II deficiency, severe infantile form def: "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." [Orphanet:228305] +subset: gard_rare {source="GARD:17150"} subset: ordo_clinical_subtype {source="Orphanet:228305"} synonym: "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" EXACT [Orphanet:228305] @@ -214668,6 +218971,7 @@ synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305] synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPTII, severe infantile form" EXACT [Orphanet:228305] +xref: GARD:17150 {source="Orphanet:228305"} xref: ICD10CM:E71.3 {source="Orphanet:228305/attributed", source="Orphanet:228305/ntbt", source="Orphanet:228305"} xref: MESH:C563462 {source="MONDO:equivalentTo"} xref: OMIM:600649 {source="Orphanet:228305", source="MONDO:equivalentTo", source="Orphanet:228305/e"} @@ -214683,6 +218987,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010915 name: autosomal dominant nonsyndromic hearing loss 4A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18100"} synonym: "autosomal dominant deafness 4A" NARROW [DOID:0110573] synonym: "autosomal dominant nonsyndromic deafness 4A" NARROW [OMIM:600652] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" NARROW [MONDO:design_pattern] @@ -214694,6 +218999,7 @@ synonym: "deafness, autosomal dominant type 4A" NARROW [MONDORULE:4, OMIM:600652 synonym: "DFNA4A" NARROW ABBREVIATION [DOID:0110573, MONDO:Lexical, OMIM:600652] synonym: "MYH14 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110573 {source="MONDO:equivalentTo"} +xref: GARD:18100 {source="OMIM:600652"} xref: ICD10CM:H90.3 {source="DOID:0110573"} xref: MESH:C563460 {source="MONDO:equivalentTo"} xref: OMIM:600652 {source="MONDO:equivalentTo", source="DOID:0110573"} @@ -214709,6 +219015,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010916 name: polycystic kidney disease 3 with or without polycystic liver disease def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18598"} synonym: "Apkd3" EXACT [DOID:0110860] synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern] synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -214722,6 +219029,7 @@ synonym: "polycystic kidney disease, adult, type 3" EXACT [OMIM:600666] synonym: "polycystic kidney disease, adult, type III" EXACT [DOID:0110860] synonym: "polycystic kidney disease, type 3" EXACT [OMIM:600666] xref: DOID:0110860 {source="MONDO:equivalentTo"} +xref: GARD:18598 {source="OMIM:600666"} xref: OMIM:600666 {source="MONDO:equivalentTo", source="DOID:0110860"} xref: Orphanet:730 {source="OMIM:600666"} xref: UMLS:C1418603 {source="OMIM:600666", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -214735,9 +219043,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010917 name: chondrocalcinosis 1 +subset: gard_rare {source="GARD:6048"} synonym: "CCAL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600668] synonym: "chondrocalcinosis 1" EXACT [MONDO:Lexical, OMIM:600668] synonym: "chondrocalcinosis with early-onset osteoarthritis" RELATED [OMIM:600668] +xref: GARD:6048 {source="OMIM:600668"} xref: MESH:C535938 {source="MONDO:equivalentTo"} xref: OMIM:600668 {source="MONDO:equivalentTo"} xref: Orphanet:1416 {source="OMIM:600668"} @@ -214779,6 +219089,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010920 name: microtia def: "A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." [https://orcid.org/0000-0001-5208-3432, Orphanet:83463] +subset: gard_rare {source="GARD:431"} subset: ordo_morphological_anomaly {source="Orphanet:83463"} synonym: "anotia" NARROW [MESH:D065817] synonym: "congenital microtias" EXACT [MESH:D065817] @@ -214786,6 +219097,7 @@ synonym: "M-A" EXACT [GARD:0000431] synonym: "microtia, congenital" EXACT [MESH:D065817] synonym: "microtia-anotia" EXACT [OMIM:600674] synonym: "microtias, congenital" EXACT [MESH:D065817] +xref: GARD:431 {source="Orphanet:83463"} xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e", source="Orphanet:83463/specific"} xref: ICD9:744.23 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027555 {source="Orphanet:83463", source="Orphanet:83463/e"} @@ -214805,9 +219117,11 @@ property_value: confidence "0.0038461538461538325" xsd:double id: MONDO:0010921 name: nasal dermoid cyst def: "A dermoid cyst that involves the nose." [MONDO:patterns/location] +subset: gard_rare {source="GARD:16970"} subset: ordo_morphological_anomaly {source="Orphanet:141103"} synonym: "dermoid cysts, familial frontonasal" RELATED [OMIM:600679] synonym: "nasal dermoid sinus cyst" EXACT [Orphanet:141103] +xref: GARD:16970 {source="Orphanet:141103"} xref: ICD10CM:Q18.8 {source="Orphanet:141103", source="Orphanet:141103/ntbt"} xref: MESH:C563455 {source="MONDO:equivalentTo"} xref: OMIM:600679 {source="MONDO:equivalentTo", source="Orphanet:141103", source="Orphanet:141103/e"} @@ -214823,13 +219137,14 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010922 name: Satoyoshi syndrome def: "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." [https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome] -subset: gard_rare {source="GARD:0000160"} +subset: gard_rare {source="GARD:160"} subset: ordo_disease {source="Orphanet:3130"} synonym: "Komuragaeri disease" EXACT [OMIM:600705, Orphanet:3130] synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" RELATED [GARD:0000160] synonym: "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities" RELATED OMO:0003005 [] synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705] synonym: "Satoyoshi syndrome" EXACT [OMIM:600705] +xref: GARD:160 {source="Orphanet:3130"} xref: MedDRA:10070579 {source="Orphanet:3130/e", source="Orphanet:3130"} xref: MESH:C536616 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"} xref: OMIM:600705 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"} @@ -214845,8 +219160,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/160/satoyosh [Term] id: MONDO:0010923 name: proximal myopathy with focal depletion of mitochondria +subset: gard_rare {source="GARD:17956"} subset: ordo_disease synonym: "proximal myopathy with focal depletion of mitochondria" EXACT [OMIM:600706] +xref: GARD:17956 {source="Orphanet:521305"} xref: MESH:C563453 {source="MONDO:equivalentTo"} xref: OMIM:600706 {source="MONDO:equivalentTo", source="Orphanet:521305"} xref: Orphanet:521305 {source="MONDO:equivalentTo"} @@ -214859,6 +219176,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010924 name: D-2-hydroxyglutaric aciduria def: "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." [Orphanet:79315] +subset: gard_rare {source="GARD:5661"} subset: ordo_disease {source="Orphanet:79315"} subset: prototype_pattern synonym: "D-2-HGA" EXACT [Orphanet:79315] @@ -214868,6 +219186,7 @@ synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1, OMIM:600721] synonym: "D2HA" RELATED ABBREVIATION [GARD:0005661] synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721] xref: DOID:0050575 {source="MONDO:equivalentTo"} +xref: GARD:5661 {source="Orphanet:79315"} xref: ICD10CM:E72.8 {source="Orphanet:79315", source="Orphanet:79315/attributed", source="Orphanet:79315/ntbt"} xref: OMIMPS:600721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"} @@ -214882,8 +219201,10 @@ property_value: confidence "1.7529411764705887" xsd:double id: MONDO:0010925 name: velo-facial-skeletal syndrome def: "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." [Orphanet:3424] +subset: gard_rare {source="GARD:5469"} subset: ordo_malformation_syndrome {source="Orphanet:3424"} synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736] +xref: GARD:5469 {source="Orphanet:3424"} xref: ICD10CM:Q87.0 {source="Orphanet:3424/attributed", source="Orphanet:3424/ntbt", source="Orphanet:3424"} xref: MESH:C536536 {source="MONDO:equivalentTo"} xref: OMIM:600736 {source="Orphanet:3424", source="MONDO:equivalentTo", source="Orphanet:3424/e"} @@ -214897,6 +219218,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010926 name: familial hypocalciuric hypercalcemia 3 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2878"} subset: ordo_etiological_subtype {source="Orphanet:101050"} synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878] @@ -214914,6 +219236,7 @@ synonym: "hypocalciuric hypercalcemia type III" EXACT [DOID:0060702] synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, OMIM:600740] synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740] xref: DOID:0060702 {source="MONDO:equivalentTo"} +xref: GARD:2878 {source="Orphanet:101050"} xref: ICD10CM:E83.5 {source="Orphanet:101050", source="DOID:0060702", source="Orphanet:101050/attributed", source="Orphanet:101050/ntbt"} xref: MESH:C537147 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050"} xref: OMIM:600740 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702"} @@ -214947,7 +219270,6 @@ property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0010928 name: dwarfism, familial, with muscle spasms -subset: gard_rare {source="GARD:0010610"} synonym: "dwarfism familial with muscle spasms" RELATED [GARD:0010610] synonym: "dwarfism, familial, with muscle spasms" EXACT [OMIM:600771] synonym: "familial dwarfism and painful muscle spasms" RELATED [GARD:0010610] @@ -214984,7 +219306,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010930 name: anophthalmia plus syndrome def: "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." [Orphanet:1104] -subset: gard_rare +subset: gard_rare {source="GARD:719"} subset: ordo_malformation_syndrome {source="Orphanet:1104"} synonym: "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder" RELATED [GARD:0000719] synonym: "anophthalmia-plus syndrome" RELATED [OMIM:600776] @@ -214992,6 +219314,7 @@ synonym: "Fryns anophthalmia syndrome" RELATED [GARD:0000719] synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719] synonym: "microphthalmia with facial clefting" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] +xref: GARD:719 {source="Orphanet:1104"} xref: ICD10CM:Q87.8 {source="Orphanet:1104", source="Orphanet:1104/attributed", source="Orphanet:1104/ntbt"} xref: MESH:C537767 {source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} xref: OMIM:600776 {source="GARD:0000719", source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} @@ -215008,6 +219331,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/719/anophtha id: MONDO:0010931 name: vitamin D-dependent rickets, type 2B def: "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." [NCIT:C131076, PMID:17071612] +subset: gard_rare {source="GARD:18170"} synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia" EXACT [NCIT:C131076] synonym: "VDDR2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600785] synonym: "vitamin D dependent rickets 2b" EXACT [NCIT:C131076] @@ -215017,6 +219341,7 @@ synonym: "vitamin D resistant rickets" EXACT [NCIT:C131076] synonym: "vitamin D-dependent rickets type II without alopecia" EXACT [MONDO:cjm] synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical, OMIM:600785] xref: DOID:0080885 {source="MONDO:equivalentTo"} +xref: GARD:18170 {source="OMIM:600785"} xref: NCIT:C131076 {source="MONDO:equivalentTo"} xref: OMIM:600785 {source="MONDO:equivalentTo"} xref: Orphanet:93160 {source="OMIM:600785"} @@ -215032,13 +219357,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010932 name: progressive bifocal chorioretinal atrophy def: "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." [Orphanet:75373] -subset: gard_rare {source="GARD:0010123"} +subset: gard_rare {source="GARD:10123"} subset: ordo_disease {source="Orphanet:75373"} synonym: "chorioretinal atrophy, progressive bifocal" RELATED [OMIM:600790] synonym: "CRAPB" EXACT ABBREVIATION [Orphanet:75373] synonym: "Crapb" RELATED [OMIM:600790] synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373] synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790] +xref: GARD:10123 {source="Orphanet:75373"} xref: MESH:C535356 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: OMIM:600790 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"} @@ -215052,6 +219378,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10123/progre id: MONDO:0010933 name: autosomal recessive nonsyndromic hearing loss 4 def: "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes." [DOID:0110498, OMIM:600791, PMID:9500541] +subset: gard_rare {source="GARD:22584"} synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [DOID:0110498] synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [OMIM:600791] synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [DOID:0110498, MONDORULE:1] @@ -215062,6 +219389,7 @@ synonym: "enlarged vestibular aqueduct" EXACT [OMIM:600791, OMIM:genemap2] synonym: "enlarged vestibular aqueduct, digenic" EXACT [OMIM:600791, OMIM:genemap2] synonym: "neurosensory nonsyndromic recessive deafness 4" NARROW [OMIM:600791] xref: DOID:0110498 {source="MONDO:equivalentTo"} +xref: GARD:22584 {source="OMIM:600791"} xref: ICD10CM:H90.3 {source="DOID:0110498"} xref: MESH:C566366 {source="MONDO:equivalentTo"} xref: OMIM:600791 {source="MONDO:equivalentTo", source="DOID:0110498"} @@ -215090,6 +219418,7 @@ replaced_by: MONDO:0015353 id: MONDO:0010936 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15322"} synonym: "ALS17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696] synonym: "amyotrophic lateral sclerosis 17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696] synonym: "amyotrophic lateral sclerosis caused by mutation in CHMP2B" EXACT [MONDO:design_pattern] @@ -215103,6 +219432,7 @@ synonym: "frontotemporal dementia, chromosome 3-linked" EXACT [MONDO:Lexical, OM synonym: "FTD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600795] xref: DOID:0060208 {source="MONDO:equivalentObsolete"} xref: DOID:0111227 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:15322 {source="OMIM:600795"} xref: ICD9:331.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563708 {source="MONDO:equivalentTo"} xref: MESH:C579991 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -215134,6 +219464,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010938 name: T-B+ severe combined immunodeficiency due to JAK3 deficiency def: "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:35078] +subset: gard_rare {source="GARD:16632"} subset: ordo_disease {source="Orphanet:35078"} synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [OMIM:600802, OMIM:genemap2] synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:600802] @@ -215142,6 +219473,7 @@ synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078] synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT [] +xref: GARD:16632 {source="Orphanet:35078"} xref: ICD10CM:D81.2 {source="Orphanet:35078", source="Orphanet:35078/attributed", source="Orphanet:35078/ntbt"} xref: MESH:C563440 {source="MONDO:equivalentTo"} xref: OMIM:600802 {source="Orphanet:35078/e", source="MONDO:equivalentTo", source="Orphanet:35078"} @@ -215160,6 +219492,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010939 name: low phospholipid associated cholelithiasis def: "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." [Orphanet:69663] +subset: gard_rare {source="GARD:16683"} subset: ordo_disease {source="Orphanet:69663"} synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [Orphanet:69663] synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [Orphanet:69663] @@ -215168,6 +219501,7 @@ synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803] synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803] synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803] synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663] +xref: GARD:16683 {source="Orphanet:69663"} xref: MedDRA:10068936 {source="Orphanet:69663/e", source="Orphanet:69663"} xref: OMIM:600803 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="Orphanet:69663"} xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"} @@ -215254,7 +219588,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010945 name: retinitis pigmentosa 17 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010387"} +subset: gard_rare {source="GARD:10387"} synonym: "CA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 17" EXACT [MONDO:Lexical, OMIM:600852] synonym: "retinitis pigmentosa caused by mutation in CA4" EXACT [MONDO:design_pattern] @@ -215262,6 +219596,7 @@ synonym: "retinitis pigmentosa type 17" EXACT [DOID:0110404, MONDORULE:2, OMIM:6 synonym: "RP 17" RELATED [GARD:0010387] synonym: "RP17" EXACT ABBREVIATION [DOID:0110404, MONDO:Lexical, OMIM:600852] xref: DOID:0110404 {source="MONDO:equivalentTo"} +xref: GARD:10387 {source="OMIM:600852"} xref: ICD10CM:H35.5 {source="DOID:0110404", source="MONDO:relatedTo"} xref: MESH:C563437 {source="MONDO:equivalentTo"} xref: OMIM:600852 {source="DOID:0110404", source="MONDO:equivalentTo"} @@ -215302,13 +219637,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010947 name: Budd-Chiari syndrome def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." [Orphanet:131] -subset: gard_rare {source="GARD:0005968"} +subset: gard_rare {source="GARD:5968"} subset: ordo_disease {source="Orphanet:131"} synonym: "BDCHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600880] synonym: "Budd-Chiari syndrome" EXACT [MONDO:Lexical, OMIM:600880] synonym: "Budd-Chiari syndrome, somatic" EXACT [OMIM:600880, OMIM:genemap2] synonym: "membranous obstruction of Inferior vena cava" RELATED [OMIM:600880] synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:0005968] +xref: GARD:5968 {source="Orphanet:131"} xref: ICD10CM:I82.0 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} xref: ICD9:453.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10006537 {source="Orphanet:131/e", source="Orphanet:131"} @@ -215356,7 +219692,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0010949 name: Charcot-Marie-Tooth disease type 2B def: "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." [Orphanet:99936] -subset: gard_rare {source="GARD:0009192"} +subset: gard_rare {source="GARD:9192"} subset: ordo_disease {source="Orphanet:99936"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159] synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192] @@ -215377,6 +219713,7 @@ synonym: "HMSN2B" EXACT ABBREVIATION [DOID:0110159, OMIM:600882] synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192] synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110159 {source="MONDO:equivalentTo"} +xref: GARD:9192 {source="Orphanet:99936"} xref: ICD10CM:G60.0 {source="DOID:0110159", source="Orphanet:99936", source="Orphanet:99936/attributed", source="Orphanet:99936/ntbt"} xref: MESH:C537989 {source="MONDO:equivalentTo"} xref: OMIM:600882 {source="DOID:0110159", source="MONDO:equivalentTo", source="Orphanet:99936", source="Orphanet:99936/e"} @@ -215414,6 +219751,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010951 name: dilated cardiomyopathy 1B def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." [DOID:0110443, PMID:7573045] +subset: gard_rare {source="GARD:15323"} synonym: "cardiomyopathy, dilated 1B" EXACT [OMIM:600884, OMIM:genemap2] synonym: "cardiomyopathy, dilated, 1B" RELATED [MONDO:Lexical, OMIM:600884] synonym: "cardiomyopathy, familial dilated" RELATED [OMIM:600884] @@ -215421,6 +219759,7 @@ synonym: "cardiomyopathy, familial dilated, 1" RELATED [OMIM:600884] synonym: "CMD1B" RELATED EXCLUDE [DOID:0110443, MONDO:Lexical, OMIM:600884] synonym: "dilated cardiomyopathy type 1B" EXACT [DOID:0110443, MONDORULE:4] xref: DOID:0110443 {source="MONDO:equivalentTo"} +xref: GARD:15323 {source="OMIM:600884"} xref: ICD10CM:I42.0 {source="DOID:0110443"} xref: OMIM:600884 {source="MONDO:equivalentTo", source="DOID:0110443"} xref: UMLS:C0340427 {source="OMIM:600884"} @@ -215433,6 +219772,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010952 name: hereditary hyperferritinemia with congenital cataracts def: "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." [Orphanet:163] +subset: gard_rare {source="GARD:2806"} subset: ordo_disease {source="Orphanet:163"} synonym: "Bonneau-Beaumont syndrome" EXACT [Orphanet:163] synonym: "cataract-hyperferritinemia syndrome" RELATED [GARD:0002806] @@ -215445,6 +219785,7 @@ synonym: "hyperferritinemia with or without cataract" RELATED [OMIM:600886] synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMIM:600886] synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886] xref: DOID:0111256 {source="MONDO:equivalentTo"} +xref: GARD:2806 {source="Orphanet:163"} xref: ICD10CM:H26.0 {source="Orphanet:163/attributed", source="Orphanet:163/ntbt", source="Orphanet:163"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -215464,6 +219805,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010953 name: Fanconi anemia complementation group E def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." [NCIT:C125709] +subset: gard_rare {source="GARD:15324"} synonym: "face" EXACT [DOID:0111084, OMIM:600901] synonym: "FANCE" EXACT ABBREVIATION [DOID:0111084, MONDO:Lexical, OMIM:600901] synonym: "FANCE Fanconi anaemia" EXACT OMO:0003005 [] @@ -215476,6 +219818,7 @@ synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MOND synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical, OMIM:600901] synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1, OMIM:600901] xref: DOID:0111084 {source="MONDO:equivalentTo"} +xref: GARD:15324 {source="OMIM:600901"} xref: NCIT:C125709 {source="MONDO:equivalentTo"} xref: OMIM:600901 {source="MONDO:equivalentTo", source="DOID:0111084"} xref: UMLS:C3160739 {source="NCIT:C125709", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600901"} @@ -215488,7 +219831,9 @@ property_value: confidence "2.5000000000000036" xsd:double [Term] id: MONDO:0010954 name: Wiskott-Aldrich syndrome, autosomal dominant form +subset: gard_rare {source="GARD:15325"} synonym: "Wiskott-Aldrich syndrome, autosomal dominant form" EXACT [OMIM:600903] +xref: GARD:15325 {source="OMIM:600903"} xref: MESH:C563431 {source="MONDO:equivalentTo"} xref: OMIM:600903 {source="MONDO:equivalentTo"} xref: Orphanet:906 {source="OMIM:600903"} @@ -215532,11 +219877,13 @@ replaced_by: MONDO:0032738 id: MONDO:0010958 name: cardiac arrhythmia, ankyrin-B-related comment: Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent +subset: gard_rare {source="GARD:10432"} synonym: "ankyrin-B syndrome" EXACT [OMIM:600919] synonym: "cardiac arrhythmia, ankyrin-b-related" EXACT [OMIM:600919] synonym: "LQT4" RELATED ABBREVIATION [GARD:0010432, OMIM:600919] xref: DOID:0111700 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111701 {source="MONDO:equivalentTo"} +xref: GARD:10432 {source="OMIM:600919"} xref: OMIM:600919 {source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:600919", source="MONDO:directSiblingOf"} xref: Orphanet:768 {source="OMIM:600919"} @@ -215552,6 +219899,7 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0010959 name: van den Ende-Gupta syndrome def: "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." [Orphanet:2460] +subset: gard_rare {source="GARD:3382"} subset: ordo_malformation_syndrome {source="Orphanet:2460"} synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [OMIM:600920] synonym: "Marden Walker like syndrome" RELATED [GARD:0003382] @@ -215563,6 +219911,7 @@ synonym: "VAN DEN Ende-Gupta syndrome" RELATED [OMIM:600920] synonym: "van den Ende-Gupta syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:600920] synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460] xref: DOID:0111699 {source="MONDO:equivalentTo"} +xref: GARD:3382 {source="Orphanet:2460"} xref: ICD10CM:Q87.0 {source="Orphanet:2460/attributed", source="Orphanet:2460/ntbt", source="Orphanet:2460"} xref: MESH:C535909 {source="MONDO:equivalentTo"} xref: OMIM:600920 {source="Orphanet:2460/e", source="MONDO:equivalentTo", source="Orphanet:2460"} @@ -215589,12 +219938,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010961 name: obesity due to prohormone convertase I deficiency def: "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." [Orphanet:71528] +subset: gard_rare {source="GARD:16689"} subset: ordo_disease {source="Orphanet:71528"} synonym: "obesity and endocrinopathy due to impaired processing of prohormones" RELATED [OMIM:600955] synonym: "obesity with impaired prohormone processing" EXACT [OMIM:600955, OMIM:genemap2] synonym: "PCI deficiency" EXACT [Orphanet:71528] synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955] xref: DOID:0111698 {source="MONDO:equivalentTo"} +xref: GARD:16689 {source="Orphanet:71528"} xref: ICD10CM:E66.8 {source="Orphanet:71528/attributed", source="Orphanet:71528/ntbt", source="Orphanet:71528"} xref: MESH:C563423 {source="MONDO:equivalentTo"} xref: OMIM:600955 {source="Orphanet:71528/e", source="MONDO:equivalentTo", source="Orphanet:71528"} @@ -215615,6 +219966,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010962 name: diffuse nonepidermolytic palmoplantar keratoderma def: "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." [Orphanet:530838] +subset: gard_rare {source="GARD:5186"} subset: ordo_disease {source="Orphanet:2337"} subset: ordo_inheritance_inconsistent synonym: "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" NARROW [Orphanet:2337] @@ -215637,6 +219989,7 @@ synonym: "Unna-Thost palmoplantar keratoderma" RELATED [GARD:0005186, PMID:75315 synonym: "Unna-Thost syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539] xref: DOID:0050428 {source="MONDO:equivalentTo", source="EFO:1000743"} xref: EFO:1000743 {source="MONDO:equivalentTo"} +xref: GARD:5186 {source="Orphanet:530838"} xref: ICD10CM:Q82.8 {source="Orphanet:2337", source="Orphanet:2337/attributed", source="Orphanet:2337/ntbt"} xref: MESH:D015776 {source="DOID:0050428"} xref: NCIT:C3147 {source="DOID:0050428"} @@ -215667,6 +220020,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010963 name: autosomal dominant nonsyndromic hearing loss 6 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18101"} synonym: "autosomal dominant deafness 14" NARROW [DOID:0110584] synonym: "autosomal dominant deafness 38" NARROW [DOID:0110584] synonym: "autosomal dominant deafness 6" NARROW [DOID:0110584] @@ -215683,6 +220037,7 @@ synonym: "DFNA38" NARROW ABBREVIATION [DOID:0110584] synonym: "DFNA6" NARROW ABBREVIATION [DOID:0110584, MONDO:Lexical, OMIM:600965] synonym: "WFS1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110584 {source="MONDO:equivalentTo"} +xref: GARD:18101 {source="OMIM:600965"} xref: ICD10CM:H90.3 {source="DOID:0110584"} xref: MESH:C563421 {source="MONDO:equivalentTo"} xref: OMIM:600965 {source="MONDO:equivalentTo", source="DOID:0110584"} @@ -215699,7 +220054,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010964 name: epiphyseal dysplasia, multiple, 3 def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009792"} +subset: gard_rare {source="GARD:9792"} synonym: "COL9A3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "EDM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600969] synonym: "epiphyseal dysplasia multiple 3" RELATED [GARD:0009792] @@ -215710,6 +220065,7 @@ synonym: "epiphyseal dysplasia, multiple, type 3" EXACT [MONDORULE:1, OMIM:60096 synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3" EXACT [] synonym: "multiple epiphyseal dysplasia 3" RELATED [GARD:0009792] xref: DOID:0070304 {source="MONDO:equivalentTo"} +xref: GARD:9792 {source="OMIM:600969"} xref: MESH:C535503 {source="MONDO:equivalentTo"} xref: OMIM:600969 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:600969"} @@ -215730,6 +220086,7 @@ id: MONDO:0010965 name: autosomal recessive nonsyndromic hearing loss 6 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22586"} synonym: "autosomal recessive deafness 6" NARROW [DOID:0110512] synonym: "autosomal recessive nonsyndromic deafness 6" NARROW CLINGEN_PREFERRED [OMIM:600971] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" NARROW [MONDO:design_pattern] @@ -215740,6 +220097,7 @@ synonym: "DFNB6" NARROW ABBREVIATION [DOID:0110512, MONDO:Lexical, OMIM:600971] synonym: "neurosensory nonsyndromic recessive deafness 6" NARROW [OMIM:600971] synonym: "TMIE autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110512 {source="MONDO:equivalentTo"} +xref: GARD:22586 {source="OMIM:600971"} xref: ICD10CM:H90.3 {source="DOID:0110512"} xref: MESH:C563418 {source="MONDO:equivalentTo"} xref: OMIM:600971 {source="DOID:0110512", source="MONDO:equivalentTo"} @@ -215755,6 +220113,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010966 name: achondrogenesis type IB def: "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." [Orphanet:93298] +subset: gard_rare {source="GARD:460"} subset: ordo_clinical_subtype {source="Orphanet:93298"} synonym: "ACG1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600972] synonym: "achondrogenesis Fraccaro type" EXACT [DOID:0080055] @@ -215767,6 +220126,7 @@ synonym: "achondrogenesis, type 1B" RELATED [OMIM:600972] synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972] synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460] xref: DOID:0080055 {source="MONDO:equivalentTo"} +xref: GARD:460 {source="Orphanet:93298"} xref: ICD10CM:Q77.0 {source="Orphanet:93298", source="Orphanet:93298/attributed", source="Orphanet:93298/ntbt"} xref: MESH:C536016 {source="Orphanet:93298", source="Orphanet:93298/e"} xref: OMIM:600972 {source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo", source="Orphanet:93298/e"} @@ -215786,6 +220146,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010967 name: autosomal recessive nonsyndromic hearing loss 7 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22587"} synonym: "autosomal recessive deafness 7" NARROW [DOID:0110520] synonym: "autosomal recessive nonsyndromic deafness 7" NARROW CLINGEN_PREFERRED [OMIM:600974] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] @@ -215797,6 +220158,7 @@ synonym: "DFNB11" NARROW ABBREVIATION [DOID:0110520] synonym: "DFNB7" NARROW ABBREVIATION [DOID:0110520, MONDO:Lexical, OMIM:600974] synonym: "TMC1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110520 {source="MONDO:equivalentTo"} +xref: GARD:22587 {source="OMIM:600974"} xref: ICD10CM:H90.3 {source="DOID:0110520"} xref: MESH:C563417 {source="MONDO:equivalentTo"} xref: OMIM:600974 {source="MONDO:equivalentTo", source="DOID:0110520"} @@ -215811,7 +220173,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010968 name: glaucoma 3, primary infantile, B -subset: gard_rare +subset: gard_rare {source="GARD:2490"} synonym: "glaucoma 3 primary infantile B" RELATED [GARD:0002490] synonym: "glaucoma 3, primary infantile, B" EXACT [MONDO:Lexical, OMIM:600975] synonym: "glaucoma primary congenita type 3B" RELATED [GARD:0002490] @@ -215821,6 +220183,7 @@ synonym: "Glc3, type B" RELATED [OMIM:600975] synonym: "GLC3B" EXACT ABBREVIATION [GARD:0002490, MONDO:Lexical, OMIM:600975] synonym: "primary congenital glaucoma" RELATED [GARD:0002490] synonym: "primary congenital glaucoma type 3B" RELATED [GARD:0002490] +xref: GARD:2490 {source="OMIM:600975"} xref: MESH:C536824 {source="MONDO:equivalentTo"} xref: OMIM:600975 {source="MONDO:equivalentTo", source="GARD:0002490"} xref: Orphanet:156005 {source="GARD:0002490"} @@ -215833,13 +220196,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2490/glaucom id: MONDO:0010969 name: cone-rod dystrophy 5 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010655"} +subset: gard_rare {source="GARD:10655"} synonym: "cone-rod dystrophy 5" EXACT [MONDO:Lexical, OMIM:600977] synonym: "cone-rod dystrophy caused by mutation in PITPNM3" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 5" EXACT [DOID:0111010, MONDORULE:1, OMIM:600977] synonym: "CORD5" EXACT ABBREVIATION [DOID:0111010, MONDO:Lexical, OMIM:600977] synonym: "PITPNM3 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111010 {source="MONDO:equivalentTo"} +xref: GARD:10655 {source="OMIM:600977"} xref: MESH:C563415 {source="MONDO:equivalentTo"} xref: OMIM:600977 {source="MONDO:equivalentTo", source="DOID:0111010"} xref: UMLS:C1832976 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600977"} @@ -215883,12 +220247,14 @@ property_value: confidence "8.6" xsd:double id: MONDO:0010972 name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome def: "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." [Orphanet:2180] +subset: gard_rare {source="GARD:5518"} subset: ordo_malformation_syndrome {source="Orphanet:2180"} synonym: "Ferlini-Ragno-Calzolari syndrome" EXACT [Orphanet:2180] synonym: "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" RELATED [GARD:0005518] synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GARD:0005518] synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991] synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180] +xref: GARD:5518 {source="Orphanet:2180"} xref: ICD10CM:Q87.8 {source="Orphanet:2180", source="Orphanet:2180/attributed", source="Orphanet:2180/ntbt"} xref: MESH:C536461 {source="MONDO:equivalentTo"} xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="Orphanet:2180/e"} @@ -215906,6 +220272,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0010973 name: autosomal dominant nonsyndromic hearing loss 5 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18102"} synonym: "autosomal dominant deafness 5" NARROW [DOID:0110575] synonym: "autosomal dominant nonsyndromic deafness 5" NARROW [OMIM:600994] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" NARROW [MONDO:design_pattern] @@ -215915,6 +220282,7 @@ synonym: "deafness, autosomal dominant type 5" NARROW [MONDORULE:1, OMIM:600994] synonym: "DFNA5" NARROW ABBREVIATION [DOID:0110575, MONDO:Lexical, OMIM:600994] synonym: "GSDME autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110575 {source="MONDO:equivalentTo"} +xref: GARD:18102 {source="OMIM:600994"} xref: ICD10CM:H90.3 {source="DOID:0110575"} xref: MESH:C563410 {source="MONDO:equivalentTo"} xref: OMIM:600994 {source="MONDO:equivalentTo", source="DOID:0110575"} @@ -215930,6 +220298,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010974 name: nephrotic syndrome, type 2 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15326"} synonym: "nephrotic syndrome caused by mutation in NPHS2" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, idiopathic, steroid-resistant" RELATED [GARD:0003946] synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [OMIM:600995] @@ -215938,6 +220307,7 @@ synonym: "NPHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600995] synonym: "NPHS2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SRN1" RELATED ABBREVIATION [GARD:0003946] xref: DOID:0080379 {source="MONDO:equivalentTo"} +xref: GARD:15326 {source="OMIM:600995"} xref: OMIM:600995 {source="MONDO:equivalentTo"} xref: UMLS:C1868672 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:600995"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:600995"} ! familial nephrotic syndrome @@ -215960,6 +220330,7 @@ replaced_by: MONDO:0011484 id: MONDO:0010976 name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive def: "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:89838] +subset: gard_rare {source="GARD:16778"} subset: ordo_disease {source="Orphanet:89838"} synonym: "EBS, autosomal recessive K14" EXACT [Orphanet:89838] synonym: "EBS-AR KRT14" EXACT [Orphanet:89838] @@ -215971,6 +220342,7 @@ synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MOND synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838] synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838] synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [Orphanet:89838] +xref: GARD:16778 {source="Orphanet:89838"} xref: ICD10CM:Q81.0 {source="Orphanet:89838", source="Orphanet:89838/attributed", source="Orphanet:89838/ntbt"} xref: MESH:C563408 {source="MONDO:equivalentTo"} xref: OMIM:601001 {source="MONDO:equivalentTo", source="Orphanet:89838", source="Orphanet:89838/e"} @@ -215986,12 +220358,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010977 name: Brody myopathy def: "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." [https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy] -subset: gard_rare {source="GARD:0009158"} +subset: gard_rare {source="GARD:9158"} subset: ordo_disease {source="Orphanet:53347"} synonym: "Brody disease" RELATED [GARD:0009158] synonym: "Brody myopathy" EXACT CLINGEN_PREFERRED [OMIM:601003] synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158] xref: DOID:0050692 {source="MONDO:equivalentTo"} +xref: GARD:9158 {source="Orphanet:53347"} xref: ICD10CM:G71.8 {source="Orphanet:53347/attributed", source="Orphanet:53347/ntbt", source="Orphanet:53347"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536607 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e"} @@ -216018,7 +220391,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010979 name: Timothy syndrome def: "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." [Orphanet:65283] -subset: gard_rare {source="GARD:0009294"} +subset: gard_rare {source="GARD:9294"} subset: ordo_clinical_subtype {source="Orphanet:65283"} synonym: "long QT syndrome 8" RELATED [OMIM:601005] synonym: "long QT syndrome type 8" RELATED [Orphanet:65283] @@ -216029,6 +220402,7 @@ synonym: "TIMOTHY syndrome" EXACT [OMIM:601005] synonym: "Timothy syndrome" EXACT [MONDO:Lexical, OMIM:601005] synonym: "TS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601005] xref: DOID:0060173 {source="MONDO:equivalentTo"} +xref: GARD:9294 {source="Orphanet:65283"} xref: ICD10CM:G72.3 {source="DOID:0060173"} xref: ICD10CM:I45.8 {source="Orphanet:65283/attributed", source="Orphanet:65283/ntbt", source="Orphanet:65283"} xref: MESH:C536962 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283"} @@ -216066,7 +220440,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010981 name: absent tibia-polydactyly-arachnoid cyst syndrome def: "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." [Orphanet:3328] -subset: gard_rare +subset: gard_rare {source="GARD:5210"} subset: ordo_malformation_syndrome {source="Orphanet:3328"} synonym: "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] synonym: "Holmes Collins syndrome" RELATED [GARD:0005210] @@ -216074,6 +220448,7 @@ synonym: "Holmes-Collins syndrome" EXACT [Orphanet:3328] synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210] synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027] synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] +xref: GARD:5210 {source="Orphanet:3328"} xref: MESH:C536918 {source="Orphanet:3328", source="Orphanet:3328/e"} xref: MESH:C563403 {source="MONDO:equivalentTo"} xref: OMIM:601027 {source="MONDO:equivalentTo", source="Orphanet:3328", source="GARD:0005210", source="Orphanet:3328/e"} @@ -216101,6 +220476,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010983 name: dystonia 9 def: "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." [DOID:0090044] +subset: gard_rare {source="GARD:16656"} subset: ordo_disease {source="Orphanet:53583"} synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [OMIM:601042] synonym: "choreoathetosis/spasticity, episodic" RELATED [OMIM:601042] @@ -216111,6 +220487,7 @@ synonym: "DYT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601042, Orphanet:53583] synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583] synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583] xref: DOID:0090044 {source="MONDO:equivalentTo"} +xref: GARD:16656 {source="Orphanet:53583"} xref: ICD10CM:G24.8 {source="DOID:0090044", source="Orphanet:53583/attributed", source="Orphanet:53583/ntbt", source="Orphanet:53583"} xref: MESH:C563401 {source="MONDO:equivalentTo"} xref: OMIM:601042 {source="DOID:0090044", source="Orphanet:53583/e", source="MONDO:equivalentTo", source="Orphanet:53583"} @@ -216127,7 +220504,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010984 name: Usher syndrome type 1D def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." [OMIM:601067] -subset: gard_rare {source="GARD:0005438"} +subset: gard_rare {source="GARD:5438"} synonym: "USH1D" EXACT ABBREVIATION [DOID:0110831, MONDO:Lexical, OMIM:601067] synonym: "Ush1D/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067] synonym: "Usher syndrome type 1D" EXACT [] @@ -216137,6 +220514,7 @@ synonym: "Usher syndrome, type 1D/F digenic" EXACT [OMIM:601067, OMIM:genemap2] synonym: "USHER syndrome, type ID" RELATED [MONDO:Lexical, OMIM:601067] synonym: "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067] xref: DOID:0110831 {source="MONDO:equivalentTo"} +xref: GARD:5438 {source="OMIM:601067"} xref: ICD10CM:H35.5 {source="DOID:0110831", source="MONDO:relatedTo"} xref: OMIM:601067 {source="DOID:0110831", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:601067"} @@ -216154,11 +220532,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5438/usher-s [Term] id: MONDO:0010985 name: epilepsy, familial adult myoclonic, 1 +subset: gard_rare {source="GARD:18082"} synonym: "benign adult familial myoclonic epilepsy 1" RELATED [OMIM:601068] synonym: "cortical myoclonic tremor with epilepsy, familial, 1" RELATED [OMIM:601068] synonym: "epilepsy, familial ADULT myoclonic, 1" RELATED [MONDO:Lexical, OMIM:601068] synonym: "FAME1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601068] xref: DOID:0111690 {source="MONDO:equivalentTo"} +xref: GARD:18082 {source="OMIM:601068"} xref: MESH:C563399 {source="MONDO:equivalentTo"} xref: OMIM:601068 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:601068"} @@ -216171,6 +220551,7 @@ property_value: confidence "0.11978947957783914" xsd:double id: MONDO:0010986 name: autosomal recessive nonsyndromic hearing loss 9 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22588"} synonym: "auditory neuropathy, autosomal recessive, 1" NARROW [OMIM:601071, OMIM:genemap2] synonym: "auditory neuropathy, nonsyndromic recessive" NARROW [OMIM:601071] synonym: "autosomal recessive deafness 9" NARROW [DOID:0110535] @@ -216184,6 +220565,7 @@ synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [DOID:0110535, synonym: "NRSD9" NARROW ABBREVIATION [DOID:0110535] synonym: "OTOF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110535 {source="MONDO:equivalentTo"} +xref: GARD:22588 {source="OMIM:601071"} xref: ICD10CM:H90.3 {source="DOID:0110535"} xref: OMIM:601071 {source="DOID:0110535", source="MONDO:equivalentTo"} xref: UMLS:C1832828 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601071"} @@ -216200,6 +220582,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010987 name: autosomal recessive nonsyndromic hearing loss 8 def: "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." [DOID:0110527, PMID:11137999] +subset: gard_rare {source="GARD:22589"} synonym: "autosomal recessive deafness 10" NARROW [DOID:0110527] synonym: "autosomal recessive deafness 8" NARROW [DOID:0110527] synonym: "autosomal recessive nonsyndromic deafness 8" NARROW CLINGEN_PREFERRED [OMIM:601072] @@ -216215,6 +220598,7 @@ synonym: "DFNB8" NARROW ABBREVIATION [DOID:0110527, MONDO:Lexical, OMIM:601072] synonym: "neurosensory nonsyndromic recessive deafness 8" NARROW [DOID:0110527, OMIM:601072] synonym: "NRSD8" NARROW ABBREVIATION [DOID:0110527] xref: DOID:0110527 {source="MONDO:equivalentTo"} +xref: GARD:22589 {source="OMIM:601072"} xref: ICD10CM:H90.3 {source="DOID:0110527"} xref: OMIM:601072 {source="DOID:0110527", source="MONDO:equivalentTo"} xref: UMLS:C1832827 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601072"} @@ -216226,11 +220610,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010988 name: aplasia cutis-myopia syndrome def: "Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." [Orphanet:1117] -subset: gard_rare +subset: gard_rare {source="GARD:756"} subset: ordo_disease {source="Orphanet:1117"} synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [OMIM:601075] synonym: "aplasia cutis myopia" EXACT [MONDO:0021910] synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117] +xref: GARD:756 {source="Orphanet:1117"} xref: ICD10CM:Q84.8 {source="Orphanet:1117", source="Orphanet:1117/attributed", source="Orphanet:1117/ntbt"} xref: MESH:C563394 {source="MONDO:equivalentTo"} xref: OMIM:601075 {source="MONDO:equivalentTo", source="Orphanet:1117", source="Orphanet:1117/e"} @@ -216246,6 +220631,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/756/aplasia- id: MONDO:0010989 name: Mayer-Rokitansky-Küster-Hauser syndrome type 2 def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." [Orphanet:2578] +subset: gard_rare {source="GARD:5513"} subset: ordo_clinical_subtype {source="Orphanet:2578"} synonym: "atypical MRKH syndrome" EXACT [Orphanet:2578] synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [OMIM:601076] @@ -216259,6 +220645,7 @@ synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601076] synonym: "MURCS association" EXACT [Orphanet:2578] synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] xref: DOID:0112179 {source="MONDO:equivalentTo"} +xref: GARD:5513 {source="Orphanet:2578"} xref: ICD10CM:Q87.8 {source="Orphanet:2578", source="Orphanet:2578/attributed", source="Orphanet:2578/ntbt"} xref: OMIM:601076 {source="MONDO:equivalentTo", source="Orphanet:2578", source="Orphanet:2578/e"} xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"} @@ -216322,11 +220709,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010993 name: Harrod syndrome def: "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." [Orphanet:2115] +subset: gard_rare {source="GARD:2601"} subset: ordo_malformation_syndrome {source="Orphanet:2115"} synonym: "cranio-facio-digito-genital syndrome" EXACT [Orphanet:2115] synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601] synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601] synonym: "Harrod syndrome" EXACT [OMIM:601095] +xref: GARD:2601 {source="Orphanet:2115"} xref: ICD10CM:Q87.8 {source="Orphanet:2115/attributed", source="Orphanet:2115/ntbt", source="Orphanet:2115"} xref: MESH:C535635 {source="MONDO:equivalentTo"} xref: OMIM:601095 {source="Orphanet:2115", source="MONDO:equivalentTo", source="Orphanet:2115/e"} @@ -216364,7 +220753,7 @@ is_obsolete: true id: MONDO:0010995 name: Charcot-Marie-Tooth disease type 1C def: "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0001247"} +subset: gard_rare {source="GARD:1247"} subset: ordo_disease {source="Orphanet:101083"} synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern] @@ -216383,6 +220772,7 @@ synonym: "LITAF Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151] synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098] xref: DOID:0110151 {source="MONDO:equivalentTo"} +xref: GARD:1247 {source="Orphanet:101083"} xref: ICD10CM:G60.0 {source="DOID:0110151", source="Orphanet:101083", source="Orphanet:101083/attributed", source="Orphanet:101083/ntbt"} xref: MESH:C537984 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="Orphanet:101083"} xref: OMIM:601098 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083"} @@ -216400,12 +220790,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1247/charcot [Term] id: MONDO:0010996 name: hereditary hemorrhagic telangiectasia type 3 -subset: gard_rare +subset: gard_rare {source="GARD:9902"} synonym: "HHT3" RELATED ABBREVIATION [GARD:0009902, MONDO:Lexical, OMIM:601101] synonym: "ORW3" RELATED ABBREVIATION [GARD:0009902] synonym: "Osler Weber Rendu syndrome type 3" RELATED [GARD:0009902] synonym: "telangiectasia hereditary hemorrhagic type 3" RELATED [GARD:0009902] synonym: "telangiectasia, hereditary hemorrhagic, type 3" RELATED [MONDO:Lexical, OMIM:601101] +xref: GARD:9902 {source="OMIM:601101"} xref: MESH:C537140 {source="MONDO:equivalentTo"} xref: OMIM:601101 {source="GARD:0009902", source="MONDO:equivalentTo"} xref: Orphanet:774 {source="GARD:0009902", source="OMIM:601101"} @@ -216418,6 +220809,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9902/heredit id: MONDO:0010997 name: supranuclear palsy, progressive, 1 def: "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." [Orphanet:240071] +subset: gard_rare {source="GARD:17182"} subset: ordo_clinical_subtype {source="Orphanet:240071"} synonym: "classic progressive supranuclear palsy syndrome" EXACT [Orphanet:240071] synonym: "classic PSP syndrome" EXACT [Orphanet:240071] @@ -216429,6 +220821,7 @@ synonym: "Steele-Richardson-Olszewski syndrome" EXACT [OMIM:601104] synonym: "supranuclear palsy, progressive" EXACT [OMIM:601104, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1" EXACT [MONDO:Lexical, OMIM:601104] synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104] +xref: GARD:17182 {source="Orphanet:240071"} xref: ICD10CM:G23.1 {source="Orphanet:240071/ntbt", source="Orphanet:240071/inclusion", source="Orphanet:240071"} xref: OMIM:601104 {source="Orphanet:240071/e", source="MONDO:equivalentTo", source="Orphanet:240071"} xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"} @@ -216444,6 +220837,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010998 name: ALG3-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." [Orphanet:79321] +subset: gard_rare {source="GARD:9827"} subset: ordo_disease {source="Orphanet:79321"} synonym: "ALG3-CDG" EXACT ABBREVIATION [Orphanet:79321] synonym: "ALG3-CDG (CDG-Id)" RELATED [GARD:0009827] @@ -216466,6 +220860,7 @@ synonym: "congenital disorder of glycosylation type Id" EXACT [Orphanet:79321] synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, OMIM:601110] synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321] xref: DOID:0080556 {source="MONDO:equivalentTo"} +xref: GARD:9827 {source="Orphanet:79321"} xref: ICD10CM:E77.8 {source="Orphanet:79321/attributed", source="Orphanet:79321/ntbt", source="Orphanet:79321"} xref: MESH:C535742 {source="MONDO:equivalentTo"} xref: NCIT:C126870 {source="MONDO:equivalentTo"} @@ -216484,10 +220879,12 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0010999 name: fallot complex-intellectual disability-growth delay syndrome def: "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." [Orphanet:3304] +subset: gard_rare {source="GARD:893"} subset: ordo_malformation_syndrome {source="Orphanet:3304"} synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893] synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304] synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127] +xref: GARD:893 {source="Orphanet:3304"} xref: ICD10CM:Q87.8 {source="Orphanet:3304", source="Orphanet:3304/attributed", source="Orphanet:3304/ntbt"} xref: MESH:C536608 {source="MONDO:equivalentTo"} xref: OMIM:601127 {source="MONDO:equivalentTo", source="Orphanet:3304", source="Orphanet:3304/e"} @@ -216543,6 +220940,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011002 name: neuropathy, hereditary motor and sensory, type 6A def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18091"} synonym: "Charcot-Marie-Tooth disease, type 6" BROAD [OMIM:601152] synonym: "Charcot-Marie-Tooth disease, type 6A" EXACT [OMIM:601152] synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" EXACT [MONDO:design_pattern] @@ -216553,6 +220951,7 @@ synonym: "MFN2 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:desi synonym: "neuropathy, hereditary motor and sensory, type 6" BROAD [OMIM:601152] synonym: "neuropathy, hereditary motor and sensory, type VIA" EXACT [MONDO:Lexical, OMIM:601152] synonym: "peripheral neuropathy and optic atrophy" BROAD [OMIM:601152] +xref: GARD:18091 {source="OMIM:601152"} xref: OMIM:601152 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="OMIM:601152"} xref: UMLS:C0393807 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:601152"} @@ -216568,7 +220967,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011003 name: dilated cardiomyopathy 1E def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:5644"} synonym: "cardiomyopathy dilated with conduction defect type 2" EXACT [MONDO:0022652] synonym: "cardiomyopathy, dilated, 1E" EXACT [MONDO:Lexical, OMIM:601154] synonym: "cardiomyopathy, dilated, type 1E" EXACT [MONDORULE:4, OMIM:601154] @@ -216582,6 +220981,7 @@ synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT synonym: "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "SCN5A familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110433 {source="MONDO:equivalentTo"} +xref: GARD:5644 {source="OMIM:601154"} xref: ICD10CM:I42.0 {source="DOID:0110433"} xref: MESH:C563384 {source="MONDO:equivalentTo"} xref: OMIM:601154 {source="MONDO:equivalentTo", source="DOID:0110433"} @@ -216597,9 +220997,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5644/cardiom id: MONDO:0011004 name: lissencephaly type 3-metacarpal bone dysplasia syndrome def: "This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence." [Orphanet:86822] +subset: gard_rare {source="GARD:16763"} subset: ordo_malformation_syndrome {source="Orphanet:86822"} synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160] synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160] +xref: GARD:16763 {source="Orphanet:86822"} xref: ICD10CM:Q04.3 {source="Orphanet:86822", source="Orphanet:86822/attributed", source="Orphanet:86822/ntbt"} xref: MESH:C563383 {source="MONDO:equivalentTo"} xref: OMIM:601160 {source="MONDO:equivalentTo", source="Orphanet:86822", source="Orphanet:86822/e"} @@ -216621,6 +221023,7 @@ is_a: MONDO:0003847 {source="MESH:C563382/inferred"} ! hereditary disease [Term] id: MONDO:0011006 name: hereditary spastic paraplegia 9A +subset: gard_rare {source="GARD:9583"} subset: ordo_clinical_subtype {source="Orphanet:447753"} synonym: "AD-SPG9A" EXACT [DOID:0110824, Orphanet:447753] synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [DOID:0110824] @@ -216636,6 +221039,7 @@ synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndro synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical, OMIM:601162] synonym: "SPG9A" EXACT ABBREVIATION [DOID:0110824, MONDO:Lexical, OMIM:601162] xref: DOID:0110824 {source="MONDO:equivalentTo"} +xref: GARD:9583 {source="Orphanet:447753"} xref: ICD10CM:G11.4 {source="Orphanet:447753", source="DOID:0110824", source="Orphanet:447753/attributed", source="Orphanet:447753/ntbt"} xref: MESH:C536868 {source="MONDO:equivalentTo"} xref: OMIM:601162 {source="Orphanet:447753", source="DOID:0110824", source="MONDO:equivalentTo", source="Orphanet:447753/e"} @@ -216653,12 +221057,13 @@ property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyU id: MONDO:0011007 name: diaphragmatic defect-limb deficiency-skull defect syndrome def: "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." [GARD:0002397] -subset: gard_rare +subset: gard_rare {source="GARD:2397"} subset: ordo_malformation_syndrome {source="Orphanet:2141"} synonym: "diaphragmatic defect limb deficiency skull defect" RELATED [GARD:0002397] synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [OMIM:601163] synonym: "froster syndrome" RELATED [OMIM:601163] synonym: "froster-Huch syndrome" EXACT [Orphanet:2141] +xref: GARD:2397 {source="Orphanet:2141"} xref: ICD10CM:Q87.8 {source="Orphanet:2141/attributed", source="Orphanet:2141/ntbt", source="Orphanet:2141"} xref: MESH:C563380 {source="MONDO:equivalentTo"} xref: OMIM:601163 {source="GARD:0002397", source="Orphanet:2141/e", source="MONDO:equivalentTo", source="Orphanet:2141"} @@ -216676,11 +221081,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2397/froster id: MONDO:0011008 name: cleft lip/palate-intestinal malrotation-cardiopathy syndrome def: "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." [Orphanet:2001] +subset: gard_rare {source="GARD:3430"} subset: ordo_malformation_syndrome {source="Orphanet:2001"} synonym: "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [GARD:0003430] synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [OMIM:601165] synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430] synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001] +xref: GARD:3430 {source="Orphanet:2001"} xref: ICD10CM:Q87.8 {source="Orphanet:2001", source="Orphanet:2001/attributed", source="Orphanet:2001/ntbt"} xref: MESH:C538160 {source="MONDO:equivalentTo"} xref: OMIM:601165 {source="Orphanet:2001", source="MONDO:equivalentTo", source="Orphanet:2001/e"} @@ -216704,6 +221111,7 @@ is_a: MONDO:0003847 {source="MESH:C563378/inferred"} ! hereditary disease id: MONDO:0011010 name: Matthew-Wood syndrome def: "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." [Orphanet:2470] +subset: gard_rare {source="GARD:713"} subset: ordo_malformation_syndrome {source="Orphanet:2470"} synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [OMIM:601186] synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [Orphanet:2470] @@ -216724,6 +221132,7 @@ synonym: "spear syndrome" RELATED [OMIM:601186] synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470] xref: DOID:0050819 {source="MONDO:equivalentObsolete"} xref: DOID:0111807 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:713 {source="Orphanet:2470"} xref: ICD10CM:Q11.2 {source="Orphanet:2470/attributed", source="Orphanet:2470/ntbt", source="Orphanet:2470"} xref: MESH:C537768 {source="MONDO:equivalentTo"} xref: OMIM:601186 {source="DOID:0050819", source="Orphanet:2470/e", source="MONDO:equivalentTo", source="Orphanet:2470"} @@ -216745,11 +221154,13 @@ property_value: confidence "0.8448594714285722" xsd:double id: MONDO:0011011 name: skeletal dysplasia-epilepsy-short stature syndrome def: "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." [Orphanet:1858] +subset: gard_rare {source="GARD:350"} subset: ordo_malformation_syndrome {source="Orphanet:1858"} synonym: "GURRIERI syndrome" RELATED [OMIM:601187] synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858] synonym: "intellectual disability, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350] synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED DEPRECATED [GARD:0000350] +xref: GARD:350 {source="Orphanet:1858"} xref: ICD10CM:Q87.5 {source="Orphanet:1858/attributed", source="Orphanet:1858/ntbt", source="Orphanet:1858"} xref: MESH:C537625 {source="MONDO:equivalentTo"} xref: OMIM:601187 {source="Orphanet:1858/e", source="MONDO:equivalentTo", source="Orphanet:1858"} @@ -216771,12 +221182,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011012 name: African iron overload def: "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." [Orphanet:139507] +subset: gard_rare {source="GARD:8495"} subset: ordo_disease {source="Orphanet:139507"} synonym: "African iron overload" EXACT [OMIM:601195] synonym: "Bantu siderosis" EXACT [DOID:0111033, OMIM:601195, Orphanet:139507] synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495] synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195] xref: DOID:0111033 {source="MONDO:equivalentTo"} +xref: GARD:8495 {source="Orphanet:139507"} xref: ICD10CM:E83.1 {source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/attributed", source="Orphanet:139507/ntbt"} xref: MESH:C537904 {source="MONDO:equivalentTo"} xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/e"} @@ -216823,6 +221236,7 @@ id: MONDO:0011014 name: pleuropulmonary blastoma def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." [NCIT:C5669] subset: clingen +subset: gard_rare {source="GARD:8757"} subset: ordo_disease {source="Orphanet:64742"} synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern] synonym: "paediatric pulmonary blastoma" EXACT OMO:0003005 [] @@ -216835,6 +221249,7 @@ synonym: "PPB familial tumour and dysplasia syndrome" RELATED OMO:0003005 [] synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669] xref: DOID:4769 {source="MONDO:equivalentTo"} xref: EFO:0009052 {source="MONDO:equivalentTo"} +xref: GARD:8757 {source="Orphanet:64742"} xref: ICD10CM:C34.1 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD10CM:C34.2 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD10CM:C34.3 {source="Orphanet:64742", source="Orphanet:64742/btnt"} @@ -216862,6 +221277,7 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0011015 name: cataract 24 def: "A cataract that has material basis in variation in the region 17p13." [DOID:0110257, PMID:8852669] +subset: gard_rare {source="GARD:15327"} synonym: "anterior polar cataract 2" NARROW [DOID:0110257] synonym: "anterior polar cataract 24" NARROW [DOID:0110257] synonym: "cataract 24" EXACT [MONDO:Lexical, OMIM:601202] @@ -216871,6 +221287,7 @@ synonym: "cataract, anterior polar, 2" RELATED [OMIM:601202] synonym: "CTAA2" NARROW ABBREVIATION [DOID:0110257] synonym: "CTRCT24" EXACT ABBREVIATION [DOID:0110257, MONDO:Lexical, OMIM:601202] xref: DOID:0110257 {source="MONDO:equivalentTo"} +xref: GARD:15327 {source="OMIM:601202"} xref: ICD10CM:Q12.0 {source="DOID:0110257"} xref: MESH:C537774 {source="MONDO:equivalentTo"} xref: OMIM:601202 {source="MONDO:equivalentTo", source="DOID:0110257"} @@ -216905,7 +221322,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011017 name: Naxos disease def: "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma." [https://orcid.org/0000-0001-5208-3432, Orphanet:34217] -subset: gard_rare {source="GARD:0009795"} +subset: gard_rare {source="GARD:9795"} subset: ordo_disease {source="Orphanet:34217"} synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214] synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 [] @@ -216928,6 +221345,7 @@ synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELA synonym: "wooly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795] synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214] xref: DOID:0080551 {source="MONDO:equivalentTo"} +xref: GARD:9795 {source="Orphanet:34217"} xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="Orphanet:34217/attributed", source="Orphanet:34217/ntbt"} xref: MESH:C538346 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: OMIM:601214 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} @@ -216946,6 +221364,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9795/naxos-d id: MONDO:0011018 name: brachyolmia-amelogenesis imperfecta syndrome def: "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." [Orphanet:2899] +subset: gard_rare {source="GARD:5478"} subset: ordo_malformation_syndrome {source="Orphanet:2899"} synonym: "amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478] synonym: "DASS" EXACT ABBREVIATION [DOID:0090143, MONDO:Lexical, OMIM:601216] @@ -216960,6 +221379,7 @@ synonym: "tooth agenesis, selective, 6, formerly" RELATED [OMIM:601216] synonym: "Verloes Bourguignon syndrome" RELATED [GARD:0005478] synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899] xref: DOID:0090143 {source="MONDO:equivalentTo"} +xref: GARD:5478 {source="Orphanet:2899"} xref: ICD10CM:Q76.3 {source="DOID:0090143", source="Orphanet:2899", source="Orphanet:2899/attributed", source="Orphanet:2899/ntbt"} xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="Orphanet:2899", source="Orphanet:2899/e"} xref: Orphanet:2899 {source="DOID:0090143", source="MONDO:equivalentTo", source="OMIM:601216"} @@ -216975,10 +221395,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011019 name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome def: "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." [Orphanet:1014] +subset: gard_rare {source="GARD:16553"} subset: ordo_disease {source="Orphanet:1014"} synonym: "alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [OMIM:601217] synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [OMIM:601217] synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014] +xref: GARD:16553 {source="Orphanet:1014"} xref: MESH:C563370 {source="MONDO:equivalentTo"} xref: OMIM:601217 {source="Orphanet:1014", source="MONDO:equivalentTo", source="Orphanet:1014/e"} xref: Orphanet:1014 {source="MONDO:equivalentTo", source="OMIM:601217"} @@ -216991,7 +221413,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0011020 name: osteoporosis-oculocutaneous hypopigmentation syndrome def: "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." [Orphanet:2786] -subset: gard_rare {source="GARD:0000404"} +subset: gard_rare {source="GARD:404"} subset: ordo_malformation_syndrome {source="Orphanet:2786"} synonym: "Hernández-Fragoso syndrome" EXACT [Orphanet:2786] synonym: "OOCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601220] @@ -216999,6 +221421,7 @@ synonym: "OOCH syndrome" RELATED [GARD:0000404] synonym: "OOCHS" EXACT ABBREVIATION [Orphanet:2786] synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical, OMIM:601220] synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404] +xref: GARD:404 {source="Orphanet:2786"} xref: MESH:C536062 {source="MONDO:equivalentTo"} xref: OMIM:601220 {source="Orphanet:2786", source="MONDO:equivalentTo", source="Orphanet:2786/e"} xref: Orphanet:2786 {source="OMIM:601220", source="MONDO:equivalentTo"} @@ -217028,6 +221451,7 @@ property_value: confidence "4.13" xsd:double id: MONDO:0011022 name: Potocki-Shaffer syndrome def: "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." [Orphanet:52022] +subset: gard_rare {source="GARD:9762"} subset: ordo_malformation_syndrome {source="Orphanet:52022"} synonym: "11p11.2 deletion" EXACT [Orphanet:52022] synonym: "chromosome 11P11.2 deletion syndrome" RELATED [OMIM:601224] @@ -217039,6 +221463,7 @@ synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022] synonym: "PSS" RELATED ABBREVIATION [OMIM:601224] xref: DECIPHER:34 {source="MONDO:equivalentTo"} xref: DOID:0111687 {source="MONDO:equivalentTo"} +xref: GARD:9762 {source="Orphanet:52022"} xref: ICD10CM:Q93.5 {source="Orphanet:52022/attributed", source="Orphanet:52022/ntbt", source="Orphanet:52022"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538356 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} @@ -217058,10 +221483,12 @@ property_value: confidence "8.375" xsd:double id: MONDO:0011023 name: hereditary mixed polyposis syndrome def: "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." [Orphanet:157794] +subset: gard_rare {source="GARD:16981"} subset: ordo_disease {source="Orphanet:157794"} synonym: "hereditary mixed polyposis syndrome" EXACT CLINGEN_PREFERRED [] synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794] xref: DOID:0111684 {source="MONDO:equivalentTo"} +xref: GARD:16981 {source="Orphanet:157794"} xref: ICD10CM:D12.6 {source="Orphanet:157794", source="Orphanet:157794/attributed", source="Orphanet:157794/ntbt"} xref: MESH:C563365 {source="MONDO:equivalentTo"} xref: OMIMPS:601228 {source="MONDO:equivalentTo"} @@ -217076,13 +221503,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011024 name: dermatitis herpetiformis, familial def: "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." [GARD:0001917] -subset: gard_rare +subset: gard_rare {source="GARD:10075"} synonym: "Brocq-Duhring disease" RELATED [GARD:0001917] synonym: "dermatitis herpetiformis, familial" EXACT [OMIM:601230] synonym: "DH" RELATED ABBREVIATION [GARD:0001917, OMIM:601230] synonym: "Duhring Brocq disease" RELATED [GARD:0001917] synonym: "Duhring's disease" RELATED [GARD:0001917] synonym: "hereditary dermatitis herpetiformis" EXACT [MONDO:patterns/hereditary] +xref: GARD:10075 {source="OMIM:601230"} xref: MESH:C538218 {source="MONDO:equivalentTo"} xref: OMIM:601230 {source="MONDO:equivalentTo", source="GARD:0001917"} xref: Orphanet:1656 {source="GARD:0001917", source="OMIM:601230"} @@ -217098,6 +221526,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1917/dermati id: MONDO:0011025 name: Cayman type cerebellar ataxia def: "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." [Orphanet:94122] +subset: gard_rare {source="GARD:16836"} subset: ordo_disease {source="Orphanet:94122"} synonym: "ataxia, cerebellar, Cayman type" EXACT [OMIM:601238, OMIM:genemap2] synonym: "ATCAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601238] @@ -217107,6 +221536,7 @@ synonym: "Cayman type cerebellar ataxia" EXACT CLINGEN_PREFERRED [] synonym: "cerebellar ataxia, CAYMAN type" RELATED [OMIM:601238] synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238] xref: DOID:0060694 {source="MONDO:equivalentTo"} +xref: GARD:16836 {source="Orphanet:94122"} xref: ICD10CM:G11.0 {source="Orphanet:94122/attributed", source="Orphanet:94122/ntbt", source="DOID:0060694", source="Orphanet:94122"} xref: MESH:C563363 {source="DOID:0060694", source="MONDO:equivalentTo"} xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="Orphanet:94122/e"} @@ -217122,6 +221552,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011026 name: autosomal recessive congenital ichthyosis 4A def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9733"} synonym: "ARCI4A" EXACT ABBREVIATION [DOID:0060712, MONDO:Lexical, OMIM:601277] synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [DOID:0060712, MONDORULE:4] synonym: "ichthyosis congenita 2B" RELATED [OMIM:601277] @@ -217136,6 +221567,7 @@ synonym: "lamellar ichthyosis 2" EXACT [DOID:0060712] synonym: "lamellar ichthyosis, type 2" RELATED [GARD:0009733] synonym: "LI2" RELATED ABBREVIATION [GARD:0009733] xref: DOID:0060712 {source="MONDO:equivalentTo"} +xref: GARD:9733 {source="OMIM:601277"} xref: ICD10CM:Q80.2 {source="DOID:0060712"} xref: MESH:C537264 {source="MONDO:equivalentTo"} xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"} @@ -217170,7 +221602,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011028 name: autosomal recessive limb-girdle muscular dystrophy type 2F def: "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." [Orphanet:219] -subset: gard_rare +subset: gard_rare {source="GARD:8573"} subset: ordo_disease {source="Orphanet:219"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern] synonym: "delta-sarcoglycanopathy" BROAD [DOID:0110280, Orphanet:219] @@ -217182,6 +221614,7 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 6" EXACT [OMIM:60 synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287] synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110280 {source="MONDO:equivalentTo"} +xref: GARD:8573 {source="Orphanet:219"} xref: ICD10CM:G71.0 {source="Orphanet:219/inclusion", source="DOID:0110280", source="Orphanet:219", source="Orphanet:219/ntbt"} xref: MESH:C535896 {source="MONDO:equivalentTo"} xref: OMIM:601287 {source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573", source="Orphanet:219/e"} @@ -217221,6 +221654,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011031 name: autosomal dominant nonsyndromic hearing loss 10 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18103"} synonym: "autosomal dominant deafness 10" NARROW [DOID:0110542] synonym: "autosomal dominant nonsyndromic deafness 10" NARROW CLINGEN_PREFERRED [OMIM:601316] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" NARROW [MONDO:design_pattern] @@ -217230,6 +221664,7 @@ synonym: "deafness, autosomal dominant type 10" NARROW [MONDORULE:2, OMIM:601316 synonym: "DFNA10" NARROW ABBREVIATION [DOID:0110542, MONDO:Lexical, OMIM:601316] synonym: "EYA4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110542 {source="MONDO:equivalentTo"} +xref: GARD:18103 {source="OMIM:601316"} xref: ICD10CM:H90.3 {source="DOID:0110542"} xref: MESH:C563354 {source="MONDO:equivalentTo"} xref: OMIM:601316 {source="MONDO:equivalentTo", source="DOID:0110542"} @@ -217245,6 +221680,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011032 name: autosomal dominant nonsyndromic hearing loss 11 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18104"} synonym: "autosomal dominant deafness 11" NARROW [DOID:0110543] synonym: "autosomal dominant nonsyndromic deafness 11" NARROW [OMIM:601317] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] @@ -217254,6 +221690,7 @@ synonym: "deafness, autosomal dominant type 11" NARROW [MONDORULE:2, OMIM:601317 synonym: "DFNA11" NARROW ABBREVIATION [DOID:0110543, MONDO:Lexical, OMIM:601317] synonym: "MYO7A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110543 {source="MONDO:equivalentTo"} +xref: GARD:18104 {source="OMIM:601317"} xref: ICD10CM:H90.3 {source="DOID:0110543"} xref: MESH:C563353 {source="MONDO:equivalentTo"} xref: OMIM:601317 {source="MONDO:equivalentTo", source="DOID:0110543"} @@ -217288,11 +221725,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011034 name: odontomicronychial dysplasia def: "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." [Orphanet:1811] -subset: gard_rare {source="GARD:0004053"} +subset: gard_rare {source="GARD:4053"} subset: ordo_malformation_syndrome {source="Orphanet:1811"} synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319] synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053] synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319] +xref: GARD:4053 {source="Orphanet:1811"} xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} xref: Orphanet:1811 {source="MONDO:equivalentTo", source="OMIM:601319"} @@ -217305,7 +221743,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4053/odontom id: MONDO:0011035 name: neurofibromatosis-Noonan syndrome def: "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638] -subset: gard_rare {source="GARD:0000372"} +subset: gard_rare {source="GARD:372"} subset: ordo_malformation_syndrome {source="Orphanet:638"} synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638] synonym: "neurofibromatosis with Noonan phenotype" RELATED [OMIM:601321] @@ -217314,6 +221752,7 @@ synonym: "NFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601321, Orphanet:638] synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372] synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321] xref: DOID:0111683 {source="MONDO:equivalentTo"} +xref: GARD:372 {source="Orphanet:638"} xref: ICD10CM:Q87.1 {source="Orphanet:638", source="Orphanet:638/attributed", source="Orphanet:638/ntbt"} xref: MESH:C537393 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} xref: MESH:D009456 {source="Orphanet:638", source="Orphanet:638/e", source="MONDO:directSiblingOf"} @@ -217338,11 +221777,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/372/neurofib id: MONDO:0011036 name: porencephaly-cerebellar hypoplasia-internal malformations syndrome def: "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." [Orphanet:2941] +subset: gard_rare {source="GARD:4437"} subset: ordo_malformation_syndrome {source="Orphanet:2941"} synonym: "Bonnemann Meinecke syndrome" RELATED [GARD:0004437] synonym: "Bonnemann-Meinecke syndrome" EXACT [Orphanet:2941] synonym: "porencephaly cerebellar hypoplasia internal malformations" RELATED [GARD:0004437] synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [OMIM:601322] +xref: GARD:4437 {source="Orphanet:2941"} xref: ICD10CM:Q87.8 {source="Orphanet:2941", source="Orphanet:2941/ntbt"} xref: MESH:C536336 {source="MONDO:equivalentTo"} xref: OMIM:601322 {source="MONDO:equivalentTo", source="Orphanet:2941", source="Orphanet:2941/e"} @@ -217374,12 +221815,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011038 name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome def: "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." [Orphanet:1171] +subset: gard_rare {source="GARD:1188"} subset: ordo_disease {source="Orphanet:1171"} synonym: "CAPOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601338] synonym: "CAPOS syndrome" EXACT [Orphanet:1171] synonym: "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" RELATED [GARD:0001188] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" RELATED [GARD:0001188] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338] +xref: GARD:1188 {source="Orphanet:1171"} xref: MESH:C535351 {source="MONDO:equivalentTo"} xref: OMIM:601338 {source="Orphanet:1171/e", source="MONDO:equivalentTo", source="Orphanet:1171"} xref: Orphanet:1171 {source="MONDO:equivalentTo", source="OMIM:601338"} @@ -217416,11 +221859,12 @@ is_a: MONDO:0003847 {source="MESH:C563348/inferred"} ! hereditary disease id: MONDO:0011041 name: ectodermal dysplasia with natal teeth, Turnpenny type def: "Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." [Orphanet:69083] -subset: gard_rare {source="GARD:0010526"} +subset: gard_rare {source="GARD:10526"} subset: ordo_malformation_syndrome {source="Orphanet:69083"} synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:0010526] synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345] synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345] +xref: GARD:10526 {source="Orphanet:69083"} xref: MESH:C563347 {source="MONDO:equivalentTo"} xref: OMIM:601345 {source="Orphanet:69083", source="MONDO:equivalentTo", source="Orphanet:69083/e"} xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"} @@ -217465,6 +221909,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011045 name: MMEP syndrome def: "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." [Orphanet:3434] +subset: gard_rare {source="GARD:3693"} subset: ordo_malformation_syndrome {source="Orphanet:3434"} synonym: "MCOPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601349, Orphanet:3434] synonym: "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism" RELATED [GARD:0003693] @@ -217477,6 +221922,7 @@ synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434] synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693] synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434] xref: DOID:0111803 {source="MONDO:equivalentTo"} +xref: GARD:3693 {source="Orphanet:3434"} xref: ICD10CM:Q87.8 {source="Orphanet:3434/attributed", source="Orphanet:3434/ntbt", source="Orphanet:3434"} xref: MESH:C537686 {source="MONDO:equivalentTo"} xref: OMIM:601349 {source="Orphanet:3434", source="MONDO:equivalentTo", source="Orphanet:3434/e"} @@ -217495,11 +221941,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011046 name: short stature, Brussels type def: "This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." [Orphanet:2867] +subset: gard_rare {source="GARD:4838"} subset: ordo_malformation_syndrome {source="Orphanet:2867"} synonym: "familial short stature with facial dysmorphism and osteochondrodysplastic lesions" RELATED [GARD:0004838] synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838] synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867] synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350] +xref: GARD:4838 {source="Orphanet:2867"} xref: ICD10CM:Q87.1 {source="Orphanet:2867", source="Orphanet:2867/attributed", source="Orphanet:2867/ntbt"} xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} @@ -217515,11 +221963,13 @@ property_value: confidence "7.125" xsd:double id: MONDO:0011047 name: deafness-epiphyseal dysplasia-short stature syndrome def: "This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." [Orphanet:3218] +subset: gard_rare {source="GARD:1688"} subset: ordo_malformation_syndrome {source="Orphanet:3218"} synonym: "chitty-Hall-Baraitser syndrome" EXACT [Orphanet:3218] synonym: "deafness, epiphyseal dysplasia, short stature" RELATED [GARD:0001688] synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmental delay" RELATED [GARD:0001688] synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351] +xref: GARD:1688 {source="Orphanet:3218"} xref: MESH:C535928 {source="MONDO:equivalentTo"} xref: OMIM:601351 {source="MONDO:equivalentTo", source="Orphanet:3218", source="Orphanet:3218/e"} xref: Orphanet:3218 {source="MONDO:equivalentTo", source="OMIM:601351"} @@ -217532,11 +221982,13 @@ property_value: confidence "8.6" xsd:double id: MONDO:0011048 name: epilepsy-microcephaly-skeletal dysplasia syndrome def: "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." [Orphanet:1948] +subset: gard_rare {source="GARD:836"} subset: ordo_malformation_syndrome {source="Orphanet:1948"} synonym: "Battaglia-Neri syndrome" EXACT [Orphanet:1948] synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836] synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352] synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [OMIM:601352] +xref: GARD:836 {source="Orphanet:1948"} xref: ICD10CM:Q87.8 {source="Orphanet:1948/attributed", source="Orphanet:1948/ntbt", source="Orphanet:1948"} xref: MESH:C537662 {source="Orphanet:1948/e", source="Orphanet:1948"} xref: OMIM:601352 {source="Orphanet:1948/e", source="MONDO:equivalentTo", source="Orphanet:1948"} @@ -217553,7 +222005,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011049 name: Fine-Lubinsky syndrome def: "A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." [Orphanet:1272] -subset: gard_rare {source="GARD:0000958"} +subset: gard_rare {source="GARD:958"} subset: ordo_malformation_syndrome {source="Orphanet:1272"} synonym: "brachycephaly, deafness, cataract and intellectual disability" RELATED [GARD:0000958] synonym: "brachycephaly, deafness, cataract and mental retardation" RELATED DEPRECATED [GARD:0000958] @@ -217561,6 +222013,7 @@ synonym: "brachycephaly, deafness, cataract, microstomia, and intellectual disab synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED DEPRECATED [OMIM:601353] synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272] synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353] +xref: GARD:958 {source="Orphanet:1272"} xref: ICD10CM:Q87.8 {source="Orphanet:1272/attributed", source="Orphanet:1272/ntbt", source="Orphanet:1272"} xref: MESH:C537933 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} xref: OMIM:601353 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} @@ -217578,11 +222031,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/958/fine-lub id: MONDO:0011050 name: microcephaly-cardiac defect-lung malsegmentation syndrome def: "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." [Orphanet:2516] +subset: gard_rare {source="GARD:2098"} subset: ordo_malformation_syndrome {source="Orphanet:2516"} synonym: "Ellis Yale Winter syndrome" RELATED [GARD:0002098] synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516] synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098] synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355] +xref: GARD:2098 {source="Orphanet:2516"} xref: ICD10CM:Q87.8 {source="Orphanet:2516/attributed", source="Orphanet:2516/ntbt", source="Orphanet:2516"} xref: MESH:C563341 {source="MONDO:equivalentTo"} xref: OMIM:601355 {source="Orphanet:2516/e", source="MONDO:equivalentTo", source="Orphanet:2516"} @@ -217599,7 +222054,6 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0011051 name: lethal short-limb skeletal dysplasia, Al Gazali type -subset: gard_rare {source="GARD:0004827"} synonym: "dysplastic cortical hyperostosis, Al-Gazali type" EXACT [Orphanet:646136] synonym: "lethal neonatal short limb dwarfism" RELATED [GARD:0004827] synonym: "lethal short limb skeletal dysplasia Al Gazali type" RELATED [GARD:0004827] @@ -217617,7 +222071,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4827/lethal- [Term] id: MONDO:0011052 name: amelia cleft lip palate hydrocephalus iris coloboma -subset: gard_rare synonym: "ACLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601357] synonym: "amelia cleft lip palate hydrocephalus iris coloboma" EXACT [MONDO:0022434] synonym: "bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele" RELATED [GARD:0000388] @@ -217635,6 +222088,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/641/amelia-c id: MONDO:0011053 name: intellectual disability-sparse hair-brachydactyly syndrome def: "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." [Orphanet:3051] +subset: gard_rare {source="GARD:270"} subset: ordo_malformation_syndrome {source="Orphanet:3051"} synonym: "intellectual disability-sparse hair-brachydactyly syndrome" EXACT CLINGEN_PREFERRED [] synonym: "NBs" RELATED [OMIM:601358] @@ -217644,6 +222098,7 @@ synonym: "Nicolaides-Baraitser syndrome" EXACT [Orphanet:3051] synonym: "SMARCA2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "sparse hair and intellectual disability" RELATED [OMIM:601358] synonym: "sparse hair and mental retardation" RELATED DEPRECATED [OMIM:601358] +xref: GARD:270 {source="Orphanet:3051"} xref: MESH:C536116 {source="MONDO:equivalentTo"} xref: OMIM:601358 {source="Orphanet:3051/e", source="MONDO:equivalentTo", source="Orphanet:3051"} xref: Orphanet:3051 {source="MONDO:equivalentTo", source="OMIM:601358"} @@ -217662,9 +222117,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011054 name: autosomal recessive amelia def: "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." [Orphanet:1027] +subset: gard_rare {source="GARD:16554"} subset: ordo_malformation_syndrome {source="Orphanet:1027"} synonym: "amelia, autosomal recessive" RELATED [OMIM:601360] synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360, OMIM:genemap2] +xref: GARD:16554 {source="Orphanet:1027"} xref: ICD10CM:Q73.0 {source="Orphanet:1027", source="Orphanet:1027/attributed", source="Orphanet:1027/ntbt"} xref: MESH:C563338 {source="MONDO:equivalentTo"} xref: OMIM:601360 {source="MONDO:equivalentTo", source="Orphanet:1027", source="Orphanet:1027/e"} @@ -217683,6 +222140,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011055 name: distal monosomy 10p def: "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." [Orphanet:1580] +subset: gard_rare {source="GARD:1323"} subset: ordo_malformation_syndrome {source="Orphanet:1580"} synonym: "10p deletion" RELATED [GARD:0001323] synonym: "10p monosomy" RELATED [GARD:0001323] @@ -217700,6 +222158,7 @@ synonym: "monosomy 10p" RELATED [GARD:0001323] synonym: "monosomy 10pter" EXACT [Orphanet:1580] synonym: "partial monosomy 10p" RELATED [GARD:0001323] synonym: "telomeric deletion 10p" EXACT [Orphanet:1580] +xref: GARD:1323 {source="Orphanet:1580"} xref: ICD10CM:Q93.5 {source="Orphanet:1580/attributed", source="Orphanet:1580/ntbt", source="Orphanet:1580"} xref: MESH:C563337 {source="MONDO:equivalentTo"} xref: NCIT:C130982 {source="MONDO:equivalentTo"} @@ -217719,6 +222178,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011056 name: Wilms tumor 4 +subset: gard_rare {source="GARD:15328"} synonym: "familial Wilms tumor 1" RELATED [OMIM:601363] synonym: "familial Wilms tumour 1" RELATED OMO:0003005 [] synonym: "Wilms tumor 4" EXACT [OMIM:601363] @@ -217726,6 +222186,7 @@ synonym: "Wilms tumor type 4" EXACT [MONDORULE:1, OMIM:601363] synonym: "Wilms tumor, type 4" EXACT [OMIM:601363, OMIM:genemap2] synonym: "Wilms tumour type 4" EXACT OMO:0003005 [] synonym: "WT4" RELATED ABBREVIATION [OMIM:601363] +xref: GARD:15328 {source="OMIM:601363"} xref: MESH:C563336 {source="MONDO:equivalentTo"} xref: OMIM:601363 {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="OMIM:601363"} @@ -217786,6 +222247,7 @@ property_value: confidence "0.26388888888888884" xsd:double id: MONDO:0011058 name: autosomal dominant nonsyndromic hearing loss 9 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18105"} synonym: "autosomal dominant deafness 9" NARROW [DOID:0110593] synonym: "autosomal dominant nonsyndromic deafness 9" NARROW [OMIM:601369] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" NARROW [MONDO:design_pattern] @@ -217795,6 +222257,7 @@ synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical, OMIM:601369, OM synonym: "deafness, autosomal dominant type 9" NARROW [MONDORULE:1, OMIM:601369] synonym: "DFNA9" NARROW ABBREVIATION [DOID:0110593, MONDO:Lexical, OMIM:601369] xref: DOID:0110593 {source="MONDO:equivalentTo"} +xref: GARD:18105 {source="OMIM:601369"} xref: ICD10CM:H90.3 {source="DOID:0110593"} xref: MESH:C563335 {source="MONDO:equivalentTo"} xref: OMIM:601369 {source="MONDO:equivalentTo", source="DOID:0110593"} @@ -217810,6 +222273,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011059 name: holoprosencephaly-craniosynostosis syndrome def: "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." [Orphanet:2163] +subset: gard_rare {source="GARD:2454"} subset: ordo_malformation_syndrome {source="Orphanet:2163"} synonym: "camera Lituania Cohen syndrome" RELATED [GARD:0002454] synonym: "Camero-Lituania-Cohen syndrome" EXACT [Orphanet:2163] @@ -217817,6 +222281,7 @@ synonym: "Genoa syndrome" EXACT [OMIM:601370, Orphanet:2163] synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454] synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370] synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454] +xref: GARD:2454 {source="Orphanet:2163"} xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2163/attributed", source="Orphanet:2163/ntbt", source="Orphanet:2163"} xref: MESH:C537684 {source="MONDO:equivalentTo"} xref: OMIM:601370 {source="Orphanet:2163/e", source="MONDO:equivalentTo", source="Orphanet:2163"} @@ -217833,9 +222298,11 @@ id: MONDO:0011060 name: early-onset non-syndromic cataract def: "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." [Orphanet:91492] comment: Not in the OMIM series. {source="OMIM:601371"} +subset: gard_rare {source="GARD:16801"} subset: ordo_disease {source="Orphanet:91492"} synonym: "cataract, age-related nuclear" RELATED [OMIM:601371] synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371] +xref: GARD:16801 {source="Orphanet:91492"} xref: ICD10CM:Q12.0 {source="Orphanet:91492", source="Orphanet:91492/e", source="Orphanet:91492/specific"} xref: OMIM:601371 {source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:equivalentTo", source="OMIM:601371"} @@ -217860,8 +222327,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011062 name: aprosencephaly cerebellar dysgenesis +subset: gard_rare {source="GARD:4518"} subset: ordo_malformation_syndrome {source="Orphanet:1126"} synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374] +xref: GARD:4518 {source="Orphanet:1126"} xref: ICD10CM:Q04.3 {source="Orphanet:1126", source="Orphanet:1126/attributed", source="Orphanet:1126/ntbt"} xref: MESH:C563331 {source="MONDO:equivalentTo"} xref: OMIM:601374 {source="MONDO:equivalentTo", source="Orphanet:1126", source="Orphanet:1126/e"} @@ -217877,10 +222346,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011063 name: hidrotic ectodermal dysplasia, Christianson-Fourie type def: "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." [Orphanet:1808] -subset: gard_rare {source="GARD:0002682"} +subset: gard_rare {source="GARD:2682"} subset: ordo_malformation_syndrome {source="Orphanet:1808"} synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808] synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375] +xref: GARD:2682 {source="Orphanet:1808"} xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="Orphanet:1808/attributed", source="Orphanet:1808/ntbt"} xref: MESH:C536180 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: OMIM:601375 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} @@ -217893,7 +222363,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2682/ectoder [Term] id: MONDO:0011064 name: lethal chondrodysplasia, Seller type -subset: gard_rare {source="GARD:0003226"} subset: ordo_malformation_syndrome {source="Orphanet:1421"} synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376] synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226] @@ -217914,10 +222383,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3226/lethal- id: MONDO:0011065 name: Hunter-McAlpine craniosynostosis def: "Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." [Orphanet:97340] +subset: gard_rare {source="GARD:2754"} subset: ordo_malformation_syndrome {source="Orphanet:97340"} synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" RELATED [GARD:0002754] synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379] synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754] +xref: GARD:2754 {source="Orphanet:97340"} xref: ICD10CM:Q87.0 {source="Orphanet:97340/attributed", source="Orphanet:97340/ntbt", source="Orphanet:97340"} xref: MESH:C536072 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: OMIM:601379 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} @@ -217933,7 +222404,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011066 name: Charcot-Marie-Tooth disease type 4B1 def: "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." [Orphanet:99955] -subset: gard_rare {source="GARD:0001253"} +subset: gard_rare {source="GARD:1253"} subset: ordo_disease {source="Orphanet:99955"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191] synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253] @@ -217949,6 +222420,7 @@ synonym: "CMT 4B1" RELATED [GARD:0001253] synonym: "CMT4B1" EXACT ABBREVIATION [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955] synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110191 {source="MONDO:equivalentTo"} +xref: GARD:1253 {source="Orphanet:99955"} xref: ICD10CM:G60.0 {source="Orphanet:99955/attributed", source="Orphanet:99955/ntbt", source="Orphanet:99955", source="DOID:0110191"} xref: MESH:C535420 {source="Orphanet:99955", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: OMIM:601382 {source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo", source="Orphanet:99955/e"} @@ -217967,6 +222439,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1253/charcot id: MONDO:0011067 name: autosomal recessive nonsyndromic hearing loss 12 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." [DOID:0110467, PMID:11090341] +subset: gard_rare {source="GARD:22590"} synonym: "autosomal recessive deafness 12" NARROW [DOID:0110467] synonym: "autosomal recessive nonsyndromic deafness 12" NARROW CLINGEN_PREFERRED [OMIM:601386] synonym: "autosomal recessive nonsyndromic deafness type 12" NARROW [DOID:0110467, MONDORULE:2] @@ -217975,6 +222448,7 @@ synonym: "deafness, autosomal recessive 12, modifier of" NARROW [OMIM:601386, OM synonym: "deafness, autosomal recessive type 12" NARROW [MONDORULE:2, OMIM:601386] synonym: "DFNB12" NARROW ABBREVIATION [DOID:0110467, MONDO:Lexical, OMIM:601386] xref: DOID:0110467 {source="MONDO:equivalentTo"} +xref: GARD:22590 {source="OMIM:601386"} xref: ICD10CM:H90.3 {source="DOID:0110467"} xref: MESH:C563327 {source="MONDO:equivalentTo"} xref: OMIM:601386 {source="DOID:0110467", source="MONDO:equivalentTo"} @@ -218013,7 +222487,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011069 name: cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction -subset: gard_rare {source="GARD:0001227"} synonym: "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" EXACT [OMIM:601389] synonym: "cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction" RELATED [GARD:0001227] synonym: "Frydman Cohen Ashkenazi syndrome" RELATED [GARD:0001227] @@ -218048,6 +222521,7 @@ property_value: confidence "0.09890109890109877" xsd:double id: MONDO:0011071 name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome def: "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." [https://clinicalgenome.org/affiliation/50034/, PMID:28600339] +subset: gard_rare {source="GARD:10352"} subset: ordo_disease {source="Orphanet:71290"} synonym: "asprin-like platelet disorder" RELATED EXCLUDE [GARD:0010352] synonym: "familial platelet disorder with associated myeloid malignancy" RELATED EXCLUDE [Orphanet:71290] @@ -218063,6 +222537,7 @@ synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399] +xref: GARD:10352 {source="Orphanet:71290"} xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"} xref: MESH:C563324 {source="MONDO:equivalentTo"} xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"} @@ -218087,12 +222562,14 @@ is_a: MONDO:0005148 {source="DC-OMIM:601407", source="MESH:C563323"} ! type 2 di [Term] id: MONDO:0011073 name: diabetes mellitus, transient neonatal, 1 +subset: gard_rare {source="GARD:1839"} synonym: "diabetes mellitus, transient neonatal 1" EXACT [OMIM:601410, OMIM:genemap2] synonym: "diabetes mellitus, transient neonatal, 1" EXACT [OMIM:601410] synonym: "diabetes mellitus, transient neonatal, type 1" EXACT [MONDORULE:1, OMIM:601410] synonym: "Dmtn" RELATED [OMIM:601410] synonym: "Tndm" RELATED [OMIM:601410] synonym: "Tndm1" RELATED [OMIM:601410] +xref: GARD:1839 {source="Orphanet:99886"} xref: MESH:C563322 {source="MONDO:equivalentTo"} xref: OMIM:601410 {source="MONDO:equivalentTo"} xref: Orphanet:99886 {source="OMIM:601410", source="MONDO:equivalentTo"} @@ -218106,12 +222583,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011074 name: autosomal dominant nonsyndromic hearing loss 7 def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." [DOID:0110591, PMID:8842739] +subset: gard_rare {source="GARD:18106"} synonym: "autosomal dominant deafness 7" NARROW [DOID:0110591] synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [OMIM:601412] synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [DOID:0110591, MONDORULE:1] synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412, OMIM:genemap2] synonym: "DFNA7" NARROW ABBREVIATION [DOID:0110591, MONDO:Lexical, OMIM:601412] xref: DOID:0110591 {source="MONDO:equivalentTo"} +xref: GARD:18106 {source="OMIM:601412"} xref: ICD10CM:H90.3 {source="DOID:0110591"} xref: MESH:C563321 {source="MONDO:equivalentTo"} xref: OMIM:601412 {source="MONDO:equivalentTo", source="DOID:0110591"} @@ -218124,7 +222603,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011075 name: retinitis pigmentosa 18 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010392"} +subset: gard_rare {source="GARD:10392"} synonym: "PRPF3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 18" EXACT [MONDO:Lexical, OMIM:601414] synonym: "retinitis pigmentosa caused by mutation in PRPF3" EXACT [MONDO:design_pattern] @@ -218132,6 +222611,7 @@ synonym: "retinitis pigmentosa type 18" EXACT [DOID:0110356, MONDORULE:2, OMIM:6 synonym: "RP 18" RELATED [GARD:0010392] synonym: "RP18" EXACT ABBREVIATION [DOID:0110356, MONDO:Lexical, OMIM:601414] xref: DOID:0110356 {source="MONDO:equivalentTo"} +xref: GARD:10392 {source="OMIM:601414"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110356"} xref: MESH:C563320 {source="MONDO:equivalentTo"} xref: OMIM:601414 {source="MONDO:equivalentTo", source="DOID:0110356"} @@ -218146,6 +222626,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10392/retini id: MONDO:0011076 name: myofibrillar myopathy 1 def: "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." [https://orcid.org/0000-0001-5208-3432, Orphanet:98909] +subset: gard_rare {source="GARD:16870"} subset: ordo_disease {source="Orphanet:363543", source="Orphanet:98909"} synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [OMIM:601419] synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [OMIM:601419] @@ -218181,6 +222662,7 @@ synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419] synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419] xref: DOID:0080092 {source="MONDO:equivalentTo"} xref: DOID:0110286 {source="MONDO:equivalentObsolete"} +xref: GARD:16870 {source="Orphanet:98909"} xref: ICD10CM:G71.0 {source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/attributed", source="Orphanet:363543/ntbt"} xref: ICD10CM:G71.8 {source="Orphanet:98909/attributed", source="Orphanet:98909/ntbt", source="Orphanet:98909"} xref: OMIM:601419 {source="Orphanet:98909/e", source="MONDO:equivalentTo", source="DOID:0080092", source="Orphanet:98909"} @@ -218207,7 +222689,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011077 name: microcephaly, corpus callosum dysgenesis, and cleft lip/palate -subset: gard_rare {source="GARD:0003614"} synonym: "corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation" RELATED [GARD:0003614] synonym: "microcephaly, corpus callosum dysgenesis and cleft lip-palate" RELATED [GARD:0003614] synonym: "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" EXACT [OMIM:601420] @@ -218222,9 +222703,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3614/microce id: MONDO:0011078 name: anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis def: "A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995." [Orphanet:2321] +subset: gard_rare {source="GARD:3062"} subset: ordo_disorder synonym: "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" EXACT [OMIM:601427] synonym: "Jung Wolff back Stahl syndrome" RELATED [GARD:0003062] +xref: GARD:3062 {source="Orphanet:2321"} xref: ICD10CM:Q87.8 {source="Orphanet:2321", source="MONDO:mondoSubClassOfSource"} xref: MESH:C537694 {source="Orphanet:2321", source="MONDO:equivalentTo"} xref: OMIM:601427 {source="Orphanet:2321", source="MONDO:equivalentTo"} @@ -218236,12 +222719,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011079 name: rhizomelic dysplasia, Patterson-Lowry type def: "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." [Orphanet:2831] -subset: gard_rare {source="GARD:0004703"} +subset: gard_rare {source="GARD:4703"} subset: ordo_malformation_syndrome {source="Orphanet:2831"} synonym: "Patterson Lowry syndrome" RELATED [GARD:0004703] synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438] +xref: GARD:4703 {source="Orphanet:2831"} xref: ICD10CM:Q78.8 {source="Orphanet:2831", source="Orphanet:2831/attributed", source="Orphanet:2831/ntbt"} xref: MESH:C537609 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: OMIM:601438 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} @@ -218259,12 +222743,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4703/rhizome id: MONDO:0011080 name: progressive deafness with stapes fixation def: "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." [Orphanet:3235] -subset: gard_rare {source="GARD:0005170"} +subset: gard_rare {source="GARD:5170"} subset: ordo_malformation_syndrome {source="Orphanet:3235"} synonym: "deafness, progressive, with stapes fixation" RELATED [OMIM:601449] synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235] synonym: "Thies Reis syndrome" RELATED [GARD:0005170] synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235] +xref: GARD:5170 {source="Orphanet:3235"} xref: ICD10CM:H74.3 {source="Orphanet:3235", source="Orphanet:3235/attributed", source="Orphanet:3235/ntbt"} xref: MESH:C563316 {source="MONDO:equivalentTo"} xref: OMIM:601449 {source="Orphanet:3235", source="MONDO:equivalentTo", source="Orphanet:3235/e"} @@ -218280,13 +222765,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5170/progres id: MONDO:0011081 name: dislocation of the hip-dysmorphism syndrome def: "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." [Orphanet:2412] -subset: gard_rare +subset: gard_rare {source="GARD:1428"} subset: ordo_malformation_syndrome {source="Orphanet:2412"} synonym: "Collins Pope syndrome" RELATED [GARD:0001428] synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412] synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450] synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428] synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450] +xref: GARD:1428 {source="Orphanet:2412"} xref: ICD10CM:Q87.2 {source="Orphanet:2412/attributed", source="Orphanet:2412/ntbt", source="Orphanet:2412"} xref: MESH:C563315 {source="MONDO:equivalentTo"} xref: OMIM:601450 {source="Orphanet:2412", source="MONDO:equivalentTo", source="Orphanet:2412/e"} @@ -218302,12 +222788,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1428/collins [Term] id: MONDO:0011082 name: oculoauriculofrontonasal syndrome -subset: gard_rare {source="GARD:0004031"} +subset: gard_rare {source="GARD:4031"} subset: ordo_malformation_syndrome {source="Orphanet:398156"} synonym: "OAFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601452, Orphanet:398156] synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [OMIM:601452] synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] +xref: GARD:4031 {source="Orphanet:398156"} xref: ICD10CM:Q87.0 {source="Orphanet:398156/attributed", source="Orphanet:398156/ntbt", source="Orphanet:398156"} xref: MESH:C537865 {source="MONDO:equivalentTo"} xref: OMIM:601452 {source="Orphanet:398156", source="MONDO:equivalentTo", source="Orphanet:398156/e"} @@ -218321,12 +222808,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4031/oculoau id: MONDO:0011083 name: trichodental syndrome def: "Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." [Orphanet:3351] -subset: gard_rare {source="GARD:0000265"} +subset: gard_rare {source="GARD:265"} subset: ordo_malformation_syndrome {source="Orphanet:3351"} synonym: "kersey syndrome" EXACT [Orphanet:3351] synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265] synonym: "Tricho-dental syndrome" RELATED [GARD:0000265] synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453] +xref: GARD:265 {source="Orphanet:3351"} xref: MESH:C536551 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: OMIM:601453 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"} @@ -218355,7 +222843,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011085 name: Charcot-Marie-Tooth disease type 4D def: "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." [Orphanet:99950] -subset: gard_rare {source="GARD:0003973"} +subset: gard_rare {source="GARD:3973"} subset: ordo_disease {source="Orphanet:99950"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern] @@ -218376,6 +222864,7 @@ synonym: "NDRG1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455] synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} +xref: GARD:3973 {source="Orphanet:99950"} xref: ICD10CM:G60.0 {source="Orphanet:99950", source="Orphanet:99950/attributed", source="Orphanet:99950/ntbt", source="DOID:0110186"} xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e"} xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e", source="DOID:0110186"} @@ -218394,6 +222883,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3973/charcot id: MONDO:0011086 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive def: "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." [Orphanet:331206] +subset: gard_rare {source="GARD:10339"} subset: ordo_disease {source="Orphanet:331206"} synonym: "SCID due to complete RAG1-2 deficiency" EXACT [DOID:0090013] synonym: "SCID due to complete RAG1/2 deficiency" EXACT [Orphanet:331206] @@ -218405,6 +222895,7 @@ synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative synonym: "severe combined immunodeficiency, B cell-negative" EXACT [OMIM:601457, OMIM:genemap2] synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] xref: DOID:0090013 {source="MONDO:equivalentTo"} +xref: GARD:10339 {source="Orphanet:331206"} xref: ICD10CM:D81.1 {source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/attributed", source="Orphanet:331206/ntbt"} xref: MESH:C563311 {source="MONDO:equivalentTo"} xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/e"} @@ -218434,6 +222925,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:601458", source="DOID:0110900", source="MES id: MONDO:0011088 name: congenital myasthenic syndrome 1A def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15330"} synonym: "CHRNA1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS IIa" EXACT [DOID:0110663] synonym: "Cms IIa" RELATED [OMIM:601462] @@ -218448,6 +222940,7 @@ synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexi synonym: "myasthenic syndrome, congenital, type IIa" RELATED [OMIM:601462] synonym: "myasthenic syndrome, congenital, type IIa, formerly" RELATED [OMIM:601462] xref: DOID:0110663 {source="MONDO:equivalentTo"} +xref: GARD:15330 {source="OMIM:601462"} xref: OMIM:601462 {source="MONDO:equivalentTo", source="DOID:0110663"} xref: Orphanet:590 {source="OMIM:601462"} xref: Orphanet:98913 {source="OMIM:601462"} @@ -218463,7 +222956,6 @@ property_value: confidence "3.24884739376658" xsd:double [Term] id: MONDO:0011089 name: patent ductus venosus -subset: gard_rare {source="GARD:0010483"} synonym: "patent ductus venosus" EXACT [MONDO:Lexical, OMIM:601466] synonym: "PDV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601466] synonym: "portosystemic Venous shunt, congenital" RELATED [OMIM:601466] @@ -218481,7 +222973,7 @@ id: MONDO:0011090 name: isolated hereditary congenital facial paralysis def: "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." [Orphanet:306527] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare +subset: gard_rare {source="GARD:8583"} subset: ordo_morphological_anomaly {source="Orphanet:306527"} synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471] synonym: "facial paresis hereditary congenital" RELATED [GARD:0008583] @@ -218491,6 +222983,7 @@ synonym: "hereditary congenital facial paresis" RELATED [GARD:0008583] synonym: "MBS2 (formerly)" RELATED [GARD:0008583] synonym: "Mobius syndrome 2 (formerly)" RELATED [GARD:0008583] synonym: "Moebius syndrome 2 (formerly)" RELATED [GARD:0008583] +xref: GARD:8583 {source="Orphanet:306527"} xref: ICD10CM:Q87.0 {source="Orphanet:306527", source="Orphanet:306527/attributed", source="Orphanet:306527/ntbt"} xref: MESH:C563309 {source="MONDO:equivalentTo"} xref: OMIMPS:601471 {source="MONDO:equivalentTo"} @@ -218508,7 +223001,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8583/heredit id: MONDO:0011091 name: Charcot-Marie-Tooth disease type 2D def: "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." [Orphanet:99938] -subset: gard_rare {source="GARD:0001251"} +subset: gard_rare {source="GARD:1251"} subset: ordo_disease {source="Orphanet:99938"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164] synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251] @@ -218523,6 +223016,7 @@ synonym: "CMT 2D" RELATED [GARD:0001251] synonym: "CMT2D" EXACT ABBREVIATION [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938] synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110164 {source="MONDO:equivalentTo"} +xref: GARD:1251 {source="Orphanet:99938"} xref: ICD10CM:G60.0 {source="Orphanet:99938/attributed", source="Orphanet:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"} xref: MESH:C537993 {source="MONDO:equivalentTo"} xref: NCIT:C122659 {source="MONDO:equivalentTo"} @@ -218544,7 +223038,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1251/charcot id: MONDO:0011092 name: ribbing disease def: "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." [https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease] -subset: gard_rare {source="GARD:0008494"} synonym: "diaphyseal sclerosis, multiple" RELATED [OMIM:601477] synonym: "hereditary multiple diaphyseal sclerosis" RELATED [GARD:0008494] synonym: "multiple diaphyseal sclerosis" RELATED [GARD:0008494] @@ -218559,6 +223052,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8494/ribbing id: MONDO:0011093 name: mucopolysaccharidosis type 9 def: "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." [NCIT:C129073] +subset: gard_rare {source="GARD:16675"} subset: ordo_disease {source="Orphanet:67041"} synonym: "hyaluronidase deficiency" RELATED [OMIM:601492] synonym: "MPS 9" RELATED [OMIM:601492] @@ -218570,6 +223064,7 @@ synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orpha synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492] synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492] xref: DOID:0050809 {source="MONDO:equivalentTo"} +xref: GARD:16675 {source="Orphanet:67041"} xref: ICD10CM:E76.2 {source="Orphanet:67041", source="Orphanet:67041/attributed", source="Orphanet:67041/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563209 {source="MONDO:equivalentTo"} @@ -218590,6 +223085,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011094 name: dilated cardiomyopathy 1C def: "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." [DOID:0110423, PMID:14662268] +subset: gard_rare {source="GARD:15331"} synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:601493] synonym: "cardiomyopathy, dilated, 1C, with or without LVNC" EXACT [OMIM:601493, OMIM:genemap2] synonym: "cardiomyopathy, familial hypertrophic, 24" RELATED [OMIM:601493] @@ -218600,6 +223096,7 @@ synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompacti synonym: "dilated cardiomyopathy type 1C" EXACT [DOID:0110423, MONDORULE:4] synonym: "left ventricular noncompaction 3" RELATED [OMIM:601493] xref: DOID:0110423 {source="MONDO:equivalentTo"} +xref: GARD:15331 {source="OMIM:601493"} xref: ICD10CM:I42.0 {source="DOID:0110423"} xref: MESH:C563307 {source="MONDO:equivalentTo"} xref: NCIT:C170436 {source="MONDO:equivalentTo"} @@ -218618,6 +223115,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011095 name: dilated cardiomyopathy 1D def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15332"} synonym: "cardiomyopathy, dilated, 1D" RELATED [MONDO:Lexical, OMIM:601494] synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4, OMIM:601494] synonym: "CMD1D" EXACT ABBREVIATION [DOID:0110426, MONDO:Lexical, OMIM:601494] @@ -218627,6 +223125,7 @@ synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNT2" synonym: "left ventricular noncompaction 6" RELATED [OMIM:601494] synonym: "TNNT2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110426 {source="MONDO:equivalentTo"} +xref: GARD:15332 {source="OMIM:601494"} xref: ICD10CM:I42.0 {source="DOID:0110426"} xref: MESH:C563306 {source="MONDO:equivalentTo"} xref: OMIM:601494 {source="DOID:0110426", source="MONDO:equivalentTo"} @@ -218641,10 +223140,12 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0011096 name: autosomal agammaglobulinemia def: "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." [Orphanet:33110] +subset: gard_rare {source="GARD:9640"} subset: ordo_clinical_subtype {source="Orphanet:33110"} synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495] synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110] synonym: "AGM" EXACT ABBREVIATION [MONDO:cjm] +xref: GARD:9640 {source="Orphanet:33110"} xref: ICD10CM:D80.0 {source="Orphanet:33110/inclusion", source="Orphanet:33110/ntbt", source="Orphanet:33110"} xref: MESH:C538056 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:601495"} @@ -218659,11 +223160,13 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0011097 name: Axenfeld-Rieger syndrome type 2 def: "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14." [DOID:0110121, PMID:8751862] +subset: gard_rare {source="GARD:10517"} synonym: "Axenfeld-Rieger syndrome, type 2" RELATED [MONDO:Lexical, OMIM:601499] synonym: "RIEG2" EXACT ABBREVIATION [DOID:0110121, MONDO:Lexical, OMIM:601499] synonym: "Rieger syndrome type 2" EXACT [DOID:0110121] synonym: "Rieger syndrome, type 2" RELATED [OMIM:601499] xref: DOID:0110121 {source="MONDO:equivalentTo"} +xref: GARD:10517 {source="OMIM:601499"} xref: ICD10CM:Q13.8 {source="DOID:0110121"} xref: MESH:C535680 {source="MONDO:equivalentTo"} xref: OMIM:601499 {source="MONDO:equivalentTo", source="DOID:0110121"} @@ -218676,6 +223179,7 @@ property_value: confidence "0.9131875999999999" xsd:double id: MONDO:0011098 name: prostate cancer, hereditary, 1 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15334"} synonym: "familial prostate cancer caused by mutation in RNASEL" EXACT [MONDO:design_pattern] synonym: "HPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601518] synonym: "Prca1" RELATED [OMIM:601518] @@ -218683,6 +223187,7 @@ synonym: "prostate cancer 1" EXACT [OMIM:601518, OMIM:genemap2] synonym: "prostate cancer, hereditary, 1" EXACT [MONDO:Lexical, OMIM:601518] synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1, OMIM:601518] synonym: "RNASEL familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15334 {source="OMIM:601518"} xref: OMIM:601518 {source="MONDO:equivalentTo"} xref: UMLS:C2931456 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:601518"} is_a: MONDO:0008315 {source="DC-OMIM:601518", source="MONDO:0011098/inferred", source="MONDO:Redundant"} ! prostate cancer @@ -218697,6 +223202,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011099 name: human HOXA1 syndromes def: "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." [Orphanet:69739] +subset: gard_rare {source="GARD:8333"} subset: ordo_disease {source="Orphanet:69739"} synonym: "ABDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601536] synonym: "ABSD" EXACT ABBREVIATION [Orphanet:69739] @@ -218709,6 +223215,7 @@ synonym: "BSAS" RELATED ABBREVIATION [GARD:0008333] synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333] synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739] xref: DOID:0050682 {source="MONDO:equivalentTo"} +xref: GARD:8333 {source="Orphanet:69739"} xref: MESH:C535397 {source="Orphanet:69739", source="Orphanet:69739/e"} xref: OMIM:601536 {source="DOID:0050682", source="MONDO:equivalentTo", source="Orphanet:69739", source="Orphanet:69739/e"} xref: Orphanet:69737 {source="OMIM:601536"} @@ -218763,6 +223270,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011102 name: autosomal dominant nonsyndromic hearing loss 12 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18107"} synonym: "autosomal dominant deafness 12" NARROW [DOID:0110544] synonym: "autosomal dominant deafness 8" NARROW [DOID:0110544] synonym: "autosomal dominant nonsyndromic deafness 12" NARROW CLINGEN_PREFERRED [OMIM:601543] @@ -218776,6 +223284,7 @@ synonym: "DFNA12" NARROW ABBREVIATION [DOID:0110544, MONDO:Lexical, OMIM:601543] synonym: "DFNA8" NARROW ABBREVIATION [DOID:0110544] synonym: "TECTA autosomal dominant nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene] xref: DOID:0110544 {source="MONDO:equivalentTo"} +xref: GARD:18107 {source="OMIM:601543"} xref: ICD10CM:H90.3 {source="DOID:0110544"} xref: MESH:C563295 {source="MONDO:equivalentTo"} xref: OMIM:601543 {source="DOID:0110544", source="MONDO:equivalentTo"} @@ -218792,6 +223301,7 @@ id: MONDO:0011103 name: autosomal dominant nonsyndromic hearing loss 3A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: consider adding grouping for 3A/3B +subset: gard_rare {source="GARD:9933"} synonym: "autosomal dominant deafness 3A" NARROW [DOID:0110564] synonym: "autosomal dominant nonsyndromic deafness 3A" NARROW [OMIM:601544] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" NARROW [MONDO:design_pattern] @@ -218806,6 +223316,7 @@ synonym: "GJB2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pa synonym: "neurosensory nonsyndromic dominant deafness 1" NARROW [GARD:0009933] synonym: "NSRD1" NARROW ABBREVIATION [GARD:0009933] xref: DOID:0110564 {source="MONDO:equivalentTo"} +xref: GARD:9933 {source="OMIM:601544"} xref: ICD10CM:H90.3 {source="DOID:0110564"} xref: MESH:C567277 {source="MONDO:equivalentTo"} xref: OMIM:601544 {source="MONDO:equivalentTo", source="DOID:0110564"} @@ -218821,6 +223332,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011104 name: cataract 3 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15335"} synonym: "cataract (disease) caused by mutation in CRYBB2" EXACT [] synonym: "cataract 3 multiple types with or without microcornea" EXACT [DOID:0110269] synonym: "cataract 3, multiple types" RELATED [MONDO:Lexical, OMIM:601547] @@ -218831,6 +223343,7 @@ synonym: "congenital cerulean type cataract 2" NARROW [DOID:0110269] synonym: "CRYBB2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CTRCT3" EXACT ABBREVIATION [DOID:0110269, MONDO:Lexical, OMIM:601547] xref: DOID:0110269 {source="MONDO:equivalentTo"} +xref: GARD:15335 {source="OMIM:601547"} xref: ICD10CM:Q12.0 {source="DOID:0110269"} xref: MESH:C563294 {source="MONDO:equivalentTo"} xref: OMIM:601547 {source="DOID:0110269", source="MONDO:equivalentTo"} @@ -218854,7 +223367,9 @@ property_value: confidence "3.3019579861886594" xsd:double [Term] id: MONDO:0011105 name: alacrima, congenital, autosomal recessive +subset: gard_rare {source="GARD:18166"} synonym: "alacrima, congenital, autosomal recessive" EXACT [OMIM:601549] +xref: GARD:18166 {source="OMIM:601549"} xref: OMIM:601549 {source="MONDO:equivalentTo"} xref: Orphanet:91416 {source="OMIM:601549"} xref: UMLS:C0344505 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -218869,6 +223384,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011106 name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome def: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." [Orphanet:412022] +subset: gard_rare {source="GARD:17688"} subset: ordo_malformation_syndrome {source="Orphanet:412022"} synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552] synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552] @@ -218877,6 +223393,7 @@ synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spo synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601552] synonym: "FDLAB syndrome" EXACT [Orphanet:412022] synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022] +xref: GARD:17688 {source="Orphanet:412022"} xref: ICD10CM:Q87.0 {source="Orphanet:412022/attributed", source="Orphanet:412022/ntbt", source="Orphanet:412022"} xref: MESH:C563293 {source="MONDO:equivalentTo"} xref: OMIM:601552 {source="Orphanet:412022/e", source="MONDO:equivalentTo", source="Orphanet:412022"} @@ -218891,6 +223408,7 @@ property_value: confidence "9.0" xsd:double id: MONDO:0011107 name: congenital hypotrichosis with juvenile macular dystrophy def: "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." [Orphanet:1573] +subset: gard_rare {source="GARD:3066"} subset: ordo_malformation_syndrome {source="Orphanet:1573"} synonym: "HJMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601553, Orphanet:1573] synonym: "Hjmd" EXACT [DOID:0110711] @@ -218901,6 +223419,7 @@ synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [M synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066] synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066] xref: DOID:0110711 {source="MONDO:equivalentTo"} +xref: GARD:3066 {source="Orphanet:1573"} xref: ICD10CM:Q84.0 {source="Orphanet:1573/attributed", source="Orphanet:1573/ntbt", source="Orphanet:1573"} xref: MESH:C537698 {source="MONDO:equivalentTo"} xref: OMIM:601553 {source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo", source="Orphanet:1573/e"} @@ -218925,10 +223444,12 @@ replaced_by: MONDO:0800043 id: MONDO:0011109 name: multiple epiphyseal dysplasia, Lowry type def: "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." [Orphanet:166016] +subset: gard_rare {source="GARD:17013"} subset: ordo_disease {source="Orphanet:166016"} synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016] +xref: GARD:17013 {source="Orphanet:166016"} xref: ICD10CM:Q78.8 {source="Orphanet:166016", source="Orphanet:166016/attributed", source="Orphanet:166016/ntbt"} xref: MESH:C563291 {source="MONDO:equivalentTo"} xref: OMIM:601560 {source="MONDO:equivalentTo", source="Orphanet:166016", source="Orphanet:166016/e"} @@ -218942,7 +223463,6 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011110 name: dyssegmental dysplasia-glaucoma syndrome def: "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." [Orphanet:1804] -subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1804"} synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025] synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561] @@ -218972,6 +223492,7 @@ is_obsolete: true id: MONDO:0011112 name: Wilms tumor 5 def: "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15336"} synonym: "bilateral radial aplasia with Wilms tumor" RELATED [GARD:0005578] synonym: "bilateral radial aplasia with Wilms tumour" RELATED OMO:0003005 [] synonym: "Wilms tumor 5" EXACT [MONDO:Lexical, OMIM:601583] @@ -218983,6 +223504,7 @@ synonym: "Wilms tumour and radial bilateral aplasia" RELATED OMO:0003005 [] synonym: "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] synonym: "Wilms tumour type 5" EXACT OMO:0003005 [] synonym: "WT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601583] +xref: GARD:15336 {source="OMIM:601583"} xref: MESH:C536707 {source="MONDO:equivalentTo"} xref: OMIM:601583 {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="OMIM:601583"} @@ -218998,7 +223520,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011113 name: Charcot-Marie-Tooth disease type 4C def: "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." [Orphanet:99949] -subset: gard_rare {source="GARD:0009201"} +subset: gard_rare {source="GARD:9201"} subset: ordo_disease {source="Orphanet:99949"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183] synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201] @@ -219012,6 +223534,7 @@ synonym: "CMT 4C" RELATED [GARD:0009201] synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949] synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110183 {source="MONDO:equivalentTo"} +xref: GARD:9201 {source="Orphanet:99949"} xref: ICD10CM:G60.0 {source="DOID:0110183", source="Orphanet:99949/attributed", source="Orphanet:99949/ntbt", source="Orphanet:99949"} xref: MESH:C535423 {source="Orphanet:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: NCIT:C129864 {source="MONDO:equivalentTo"} @@ -219030,6 +223553,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9201/charcot [Term] id: MONDO:0011114 name: familial multiple trichoepithelioma +subset: gard_rare {source="GARD:10867"} subset: ordo_clinical_subtype {source="Orphanet:867"} synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606] synonym: "epithelioma adenoides cysticum" RELATED [GARD:0010867] @@ -219038,6 +223562,7 @@ synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606] synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867] synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867] synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867] +xref: GARD:10867 {source="Orphanet:867"} xref: ICD10CM:D23.3 {source="Orphanet:867/attributed", source="Orphanet:867/ntbt", source="Orphanet:867"} xref: MESH:C536552 {source="Orphanet:867", source="Orphanet:867/e"} xref: Orphanet:79493 {source="OMIM:601606"} @@ -219062,7 +223587,7 @@ is_a: MONDO:0003847 {source="MESH:C566652/inferred"} ! hereditary disease id: MONDO:0011116 name: lung agenesis-heart defect-thumb anomalies syndrome def: "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." [Orphanet:1120] -subset: gard_rare +subset: gard_rare {source="GARD:3378"} subset: ordo_malformation_syndrome {source="Orphanet:1120"} synonym: "LACHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601612] synonym: "lung agenesis heart defect thumb anomalies" RELATED [GARD:0003378, MESH:C535708] @@ -219071,6 +223596,7 @@ synonym: "Manouvrier syndrome" RELATED [GARD:0003378] synonym: "Mardini-Nyhan association" RELATED [OMIM:601612] synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120] synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708] +xref: GARD:3378 {source="Orphanet:1120"} xref: ICD10CM:Q87.8 {source="Orphanet:1120", source="Orphanet:1120/attributed", source="Orphanet:1120/ntbt"} xref: MESH:C535708 {source="MONDO:equivalentTo"} xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="Orphanet:1120/e"} @@ -219122,9 +223648,11 @@ id: MONDO:0011119 name: iridogoniodysgenesis comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 subset: disease_grouping +subset: gard_rare {source="GARD:16484"} subset: ordo_group_of_disorders {source="Orphanet:98634"} synonym: "IRID" EXACT ABBREVIATION [MONDO:cjm] xref: DOID:0050786 {source="https://github.com/monarch-initiative/mondo/issues/203", source="MONDO:equivalentTo"} +xref: GARD:16484 {source="Orphanet:98634"} xref: Orphanet:98634 {source="MONDO:equivalentTo"} is_a: MONDO:0019503 {source="MONDO:cjm"} ! anterior segment dysgenesis @@ -219151,7 +223679,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011121 name: paragangliomas 2 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010544"} +subset: gard_rare {source="GARD:10544"} synonym: "glomus tumors, familial, 2" RELATED [OMIM:601650] synonym: "paraganglioma caused by mutation in SDHAF2" EXACT [MONDO:design_pattern] synonym: "paragangliomas 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:601650] @@ -219159,6 +223687,7 @@ synonym: "paragangliomas type 2" EXACT [MONDORULE:1, OMIM:601650] synonym: "PGL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601650] synonym: "SDHAF2 paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)" RELATED [GARD:0010544] +xref: GARD:10544 {source="OMIM:601650"} xref: MESH:C566646 {source="MONDO:equivalentTo"} xref: OMIM:601650 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:601650"} @@ -219224,9 +223753,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011124 name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome def: "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." [https://orcid.org/0000-0001-5208-3432, Orphanet:168451] +subset: gard_rare {source="GARD:17030"} subset: ordo_disease {source="Orphanet:168451"} synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601668] synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668] +xref: GARD:17030 {source="Orphanet:168451"} xref: ICD10CM:Q77.7 {source="Orphanet:168451/attributed", source="Orphanet:168451/ntbt", source="Orphanet:168451"} xref: MESH:C566644 {source="MONDO:equivalentTo"} xref: OMIM:601668 {source="Orphanet:168451/e", source="MONDO:equivalentTo", source="Orphanet:168451"} @@ -219239,6 +223770,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011125 name: trichothiodystrophy 1, photosensitive +subset: gard_rare {source="GARD:5270"} synonym: "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation" RELATED [OMIM:601675] synonym: "PIBIDS syndrome" EXACT [OMIM:601675] synonym: "Tay syndrome" RELATED [OMIM:601675] @@ -219247,6 +223779,7 @@ synonym: "trichothiodystrophy with congenital ichthyosis" RELATED [OMIM:601675] synonym: "trichothiodystrophy, photosensitive" RELATED [OMIM:601675] synonym: "TTD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601675] xref: DOID:0111873 {source="MONDO:equivalentTo"} +xref: GARD:5270 {source="OMIM:601675"} xref: NCIT:C156433 {source="MONDO:equivalentTo"} xref: OMIM:601675 {source="MONDO:equivalentTo"} xref: Orphanet:453 {source="OMIM:601675"} @@ -219283,6 +223816,7 @@ replaced_by: MONDO:0100344 id: MONDO:0011128 name: Sheldon-hall syndrome def: "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." [Orphanet:1147] +subset: gard_rare {source="GARD:16556"} subset: ordo_malformation_syndrome {source="Orphanet:1147"} synonym: "arthrogryposis multiplex congenita distal type 2B" RELATED [GARD:0009909] synonym: "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" RELATED [GARD:0009909] @@ -219296,6 +223830,7 @@ synonym: "Freeman Sheldon variant" RELATED [GARD:0009909] synonym: "Freeman-Sheldon syndrome variant" EXACT [DOID:0111599, Orphanet:1147] synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680] xref: DOID:0111599 {source="MONDO:equivalentTo"} +xref: GARD:16556 {source="Orphanet:1147"} xref: ICD10CM:Q68.8 {source="Orphanet:1147/attributed", source="Orphanet:1147/ntbt", source="Orphanet:1147"} xref: MESH:C538400 {source="DOID:0111599"} xref: Orphanet:1147 {source="MONDO:equivalentTo", source="DOID:0111599", source="OMIM:601680"} @@ -219306,7 +223841,6 @@ is_a: MONDO:0019942 {source="DOID:0111599", source="Orphanet:1147"} ! distal art [Term] id: MONDO:0011129 name: glaucoma type 1C -subset: gard_rare synonym: "glaucoma 1, primary open angle, C" RELATED [MONDO:Lexical, OMIM:601682] synonym: "glaucoma 1C, primary open angle" EXACT [OMIM:601682, OMIM:genemap2] synonym: "GLC1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601682] @@ -219322,7 +223856,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2484/glaucom [Term] id: MONDO:0011130 name: sebaceous gland hyperplasia, familial presenile -subset: gard_rare {source="GARD:0010031"} synonym: "sebaceous gland hyperplasia, familial presenile" EXACT [OMIM:601700] xref: MESH:C537530 {source="MONDO:equivalentTo"} xref: OMIM:601700 {source="MONDO:equivalentTo"} @@ -219353,7 +223886,7 @@ property_value: confidence "9.0" xsd:double id: MONDO:0011132 name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." [DOID:0060769, https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, PMID:10206641, PMID:8911612] -subset: gard_rare {source="GARD:0004358"} +subset: gard_rare {source="GARD:4358"} subset: ordo_disease {source="Orphanet:169095"} synonym: "alopecia immunodeficiency" EXACT [] synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769] @@ -219365,6 +223898,7 @@ synonym: "T-cell immunodeficiency, congenital alopecia and nail dystrophy" RELAT synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [OMIM:601705] synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095] xref: DOID:0060769 {source="MONDO:equivalentTo"} +xref: GARD:4358 {source="Orphanet:169095"} xref: ICD10CM:D82.8 {source="DOID:0060769", source="Orphanet:169095/attributed", source="Orphanet:169095/ntbt", source="Orphanet:169095"} xref: MESH:C536781 {source="MONDO:equivalentTo"} xref: OMIM:601705 {source="Orphanet:169095/e", source="MONDO:equivalentTo", source="DOID:0060769", source="Orphanet:169095"} @@ -219382,11 +223916,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4358/t-cell- id: MONDO:0011133 name: deaf blind hypopigmentation syndrome, Yemenite type def: "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." [Orphanet:3214] +subset: gard_rare {source="GARD:5535"} subset: ordo_malformation_syndrome {source="Orphanet:3214"} synonym: "Warburg Thomsen syndrome" RELATED [GARD:0005535] synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214] synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535] synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214] +xref: GARD:5535 {source="Orphanet:3214"} xref: MESH:C536771 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"} @@ -219399,7 +223935,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0011134 name: Curry-Jones syndrome def: "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." [Orphanet:1553] -subset: gard_rare {source="GARD:0005584"} +subset: gard_rare {source="GARD:5584"} subset: ordo_malformation_syndrome {source="Orphanet:1553"} synonym: "corpus callosum agenesis polysyndactyly" RELATED [GARD:0005584] synonym: "corpus callosum agenesis-polysyndactyly syndrome" EXACT [Orphanet:1553] @@ -219409,6 +223945,7 @@ synonym: "curry Jones syndrome" RELATED [GARD:0005584] synonym: "curry-JONES syndrome" RELATED [OMIM:601707] synonym: "curry-Jones syndrome" EXACT [OMIM:601707] synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [OMIM:601707, OMIM:genemap2] +xref: GARD:5584 {source="Orphanet:1553"} xref: ICD10CM:Q87.0 {source="Orphanet:1553/attributed", source="Orphanet:1553/ntbt", source="Orphanet:1553"} xref: MESH:C536735 {source="MONDO:equivalentTo"} xref: OMIM:601707 {source="Orphanet:1553", source="MONDO:equivalentTo", source="Orphanet:1553/e"} @@ -219437,7 +223974,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011136 name: Quebec platelet disorder def: "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." [Orphanet:220436] -subset: gard_rare {source="GARD:0008345"} +subset: gard_rare {source="GARD:8345"} subset: ordo_disease {source="Orphanet:220436"} synonym: "BDPLT5" EXACT ABBREVIATION [DOID:0111050] synonym: "bleeding disorder, platelet-type, 5" RELATED [OMIM:601709] @@ -219447,6 +223984,7 @@ synonym: "platelet-type bleeding disorder 5" EXACT [DOID:0111050] synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601709] synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709] xref: DOID:0111050 {source="MONDO:equivalentTo"} +xref: GARD:8345 {source="Orphanet:220436"} xref: ICD10CM:D69.1 {source="DOID:0111050", source="Orphanet:220436", source="Orphanet:220436/attributed", source="Orphanet:220436/ntbt"} xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} @@ -219462,7 +224000,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8345/quebec- id: MONDO:0011137 name: retinitis pigmentosa 19 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010398"} +subset: gard_rare {source="GARD:10398"} synonym: "ABCA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 19" EXACT [MONDO:Lexical, OMIM:601718] synonym: "retinitis pigmentosa caused by mutation in ABCA4" EXACT [MONDO:design_pattern] @@ -219470,6 +224008,7 @@ synonym: "retinitis pigmentosa type 19" EXACT [DOID:0110354, MONDORULE:2, OMIM:6 synonym: "RP 19" RELATED [GARD:0010398] synonym: "RP19" EXACT ABBREVIATION [DOID:0110354, MONDO:Lexical, OMIM:601718] xref: DOID:0110354 {source="MONDO:equivalentTo"} +xref: GARD:10398 {source="OMIM:601718"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110354"} xref: MESH:C566637 {source="MONDO:equivalentTo"} xref: OMIM:601718 {source="MONDO:equivalentTo", source="DOID:0110354"} @@ -219541,6 +224080,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011142 name: Ehlers-Danlos syndrome, musculocontractural type def: "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." [Orphanet:2953] +subset: gard_rare {source="GARD:8486"} subset: ordo_disease {source="Orphanet:2953"} synonym: "adducted thumb clubfoot syndrome" RELATED [GARD:0008486] synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608, OMIM:601776] @@ -219573,6 +224113,7 @@ synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776] synonym: "MCEDS" EXACT ABBREVIATION [Orphanet:2953] synonym: "musculocontractural EDS" RELATED [GARD:0008486] synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953] +xref: GARD:8486 {source="Orphanet:2953"} xref: ICD10CM:Q79.6 {source="Orphanet:2953", source="Orphanet:2953/attributed", source="Orphanet:2953/ntbt"} xref: MESH:C000600608 {source="MONDO:equivalentTo"} xref: Orphanet:2953 {source="MONDO:equivalentTo"} @@ -219597,6 +224138,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/545/adducted id: MONDO:0011143 name: cone-rod dystrophy 6 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10656"} synonym: "cone-rod dystrophy 6" EXACT [MONDO:Lexical, OMIM:601777] synonym: "cone-rod dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 6" EXACT [DOID:0111011, MONDORULE:1, OMIM:601777] @@ -219605,6 +224147,7 @@ synonym: "GUCY2D cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns synonym: "RCD2" EXACT ABBREVIATION [DOID:0111011, OMIM:601251, OMIM:601777] synonym: "retinal cone dystrophy 2" EXACT [DOID:0111011, OMIM:601777] xref: DOID:0111011 {source="MONDO:equivalentTo"} +xref: GARD:10656 {source="OMIM:601777"} xref: MESH:C538363 {source="MONDO:equivalentTo"} xref: OMIM:601777 {source="MONDO:equivalentTo", source="DOID:0111011"} xref: UMLS:C1866293 {source="MONDO:equivalentTo", source="OMIM:601777", source="MONDO:ncbi_mim2gene_medline"} @@ -219620,7 +224163,7 @@ id: MONDO:0011144 name: ceroid lipofuscinosis, neuronal, 6A def: "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6] subset: clingen -subset: gard_rare {source="GARD:0001224"} +subset: gard_rare {source="GARD:1224"} subset: ordo_etiological_subtype {source="Orphanet:228363"} synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical, OMIM:601780] synonym: "ceroid lipofuscinosis, neuronal, 6, variable age at onset" RELATED [OMIM:601780] @@ -219639,6 +224182,7 @@ synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" R synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" EXACT [OMIM:601780] synonym: "vLINCL" EXACT ABBREVIATION [OMIM:601780] xref: DOID:0110729 {source="MONDO:equivalentTo"} +xref: GARD:1224 {source="Orphanet:228363"} xref: ICD10CM:E75.4 {source="DOID:0110729", source="Orphanet:228363/attributed", source="Orphanet:228363/ntbt", source="Orphanet:228363"} xref: MESH:C566627 {source="MONDO:equivalentTo"} xref: OMIM:601780 {source="Orphanet:228363/e", source="MONDO:equivalentTo", source="DOID:0110729", source="Orphanet:228363"} @@ -219658,9 +224202,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1224/neurona [Term] id: MONDO:0011145 name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome +subset: gard_rare {source="GARD:17575"} subset: ordo_disease {source="Orphanet:363741"} synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [OMIM:601794] synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [OMIM:601794] +xref: GARD:17575 {source="Orphanet:363741"} xref: ICD10CM:Q87.8 {source="Orphanet:363741", source="Orphanet:363741/attributed", source="Orphanet:363741/ntbt"} xref: MESH:C566623 {source="MONDO:equivalentTo"} xref: OMIM:601794 {source="MONDO:equivalentTo", source="Orphanet:363741", source="Orphanet:363741/e"} @@ -219674,6 +224220,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0011146 name: tetrasomy 12p def: "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." [Orphanet:884] +subset: gard_rare {source="GARD:8421"} subset: ordo_malformation_syndrome {source="Orphanet:884"} synonym: "chromosome 12, Isochromosome 12p syndrome" RELATED [GARD:0008421] synonym: "Hexasomy 12P, Mosaic" RELATED [OMIM:601803] @@ -219691,6 +224238,7 @@ synonym: "PKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601803] synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421] synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803] synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884] +xref: GARD:8421 {source="Orphanet:884"} xref: ICD10CM:Q99.8 {source="Orphanet:884", source="Orphanet:884/attributed", source="Orphanet:884/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538105 {source="MONDO:equivalentTo"} @@ -219714,7 +224262,7 @@ id: MONDO:0011147 name: chromosome 18q deletion syndrome def: "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." [NCIT:C84522] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:10865", source="GARD:20837"} subset: ordo_malformation_syndrome {source="Orphanet:1600"} synonym: "18q deletion syndrome" EXACT [NCIT:C84522] synonym: "18Q syndrome" EXACT [NCIT:C84522] @@ -219738,6 +224286,8 @@ synonym: "proximal 18q deletion syndrome" NARROW [GARD:0010866] synonym: "proximal 18q-" NARROW [GARD:0010866] synonym: "proximal chromosome 18q deletion syndrome" NARROW [GARD:0010866] xref: DOID:0060407 {source="MONDO:equivalentTo"} +xref: GARD:10865 {source="Orphanet:1600"} +xref: GARD:20837 {source="Orphanet:262146"} xref: ICD10CM:Q93.5 {source="Orphanet:1600", source="Orphanet:262146", source="DOID:0060407", source="Orphanet:1600/attributed", source="Orphanet:1600/ntbt", source="Orphanet:262146/attributed", source="Orphanet:262146/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536580 {source="MONDO:equivalentTo", source="DOID:0060407"} @@ -219765,7 +224315,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011148 name: Spondylospinal thoracic dysostosis def: "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." [https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis] -subset: gard_rare {source="GARD:0010571"} synonym: "spondylospinal thoracic dysostosis" EXACT [OMIM:601809] xref: MESH:C566622 {source="MONDO:equivalentTo"} xref: OMIM:601809 {source="MONDO:equivalentTo"} @@ -219789,7 +224338,7 @@ is_a: MONDO:0019303 {source="https://orcid.org/0000-0001-5208-3432"} ! premature [Term] id: MONDO:0011150 name: acroosteolysis-keloid-like lesions-premature aging syndrome -subset: gard_rare +subset: gard_rare {source="GARD:4276"} subset: ordo_disease {source="Orphanet:363665"} synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601812] synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276] @@ -219799,6 +224348,7 @@ synonym: "premature aging syndrome Penttinen type" RELATED [GARD:0004276] synonym: "premature aging syndrome, Penttinen type" EXACT [GARD:0004498, MONDO:Lexical, OMIM:601812, Orphanet:363665] synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" RELATED [GARD:0004276] synonym: "progeroid syndrome, Penttinen type" RELATED [GARD:0004498] +xref: GARD:4276 {source="Orphanet:363665"} xref: ICD10CM:E34.8 {source="Orphanet:363665", source="Orphanet:363665/attributed", source="Orphanet:363665/ntbt"} xref: MESH:C536653 {source="MONDO:equivalentTo"} xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="Orphanet:363665/e", source="GARD:0004276"} @@ -219813,10 +224363,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011151 name: exudative vitreoretinopathy 4 +subset: gard_rare {source="GARD:15337"} synonym: "EVR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601813] synonym: "exudative vitreoretinopathy 4" EXACT [MONDO:Lexical, OMIM:601813] synonym: "exudative vitreoretinopathy type 4" EXACT [MONDORULE:1, OMIM:601813] xref: DOID:0111411 {source="MONDO:equivalentTo"} +xref: GARD:15337 {source="OMIM:601813"} xref: MESH:C566619 {source="MONDO:equivalentTo"} xref: OMIM:601813 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:601813"} @@ -219829,12 +224381,14 @@ property_value: confidence "0.9347826086956526" xsd:double id: MONDO:0011152 name: PHGDH deficiency def: "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" [Orphanet:79351] +subset: gard_rare {source="GARD:16718"} subset: ordo_disease {source="Orphanet:79351"} synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [Orphanet:79351] synonym: "PHGDH deficiency" EXACT [OMIM:601815] synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601815] synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815] xref: DOID:0050722 {source="MONDO:equivalentTo"} +xref: GARD:16718 {source="Orphanet:79351"} xref: ICD10CM:E72.8 {source="Orphanet:79351", source="Orphanet:79351/attributed", source="Orphanet:79351/ntbt"} xref: MESH:C566618 {source="MONDO:equivalentTo"} xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="Orphanet:79351", source="Orphanet:79351/e"} @@ -219852,7 +224406,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011153 name: hyperinsulinemic hypoglycemia, familial, 2 def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare synonym: "HHF2" RELATED ABBREVIATION [GARD:0009927, MONDO:Lexical, OMIM:601820] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:601820] @@ -219887,6 +224440,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9927/hyperin id: MONDO:0011154 name: acrofacial dysostosis, Palagonia type def: "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." [Orphanet:1787] +subset: gard_rare {source="GARD:499"} subset: ordo_malformation_syndrome {source="Orphanet:1787"} synonym: "acrofacial dysostosis Palagonia type" RELATED [GARD:0000499] synonym: "acrofacial dysostosis, Palagonia type" EXACT [OMIM:601829] @@ -219896,6 +224450,7 @@ synonym: "PAFD" RELATED ABBREVIATION [GARD:0000499] synonym: "Palagonia form of AFD" RELATED [GARD:0000499] synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185] xref: DOID:0060385 {source="MONDO:equivalentTo"} +xref: GARD:499 {source="Orphanet:1787"} xref: ICD10CM:Q75.4 {source="Orphanet:1787", source="Orphanet:1787/attributed", source="Orphanet:1787/ntbt"} xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} @@ -219921,7 +224476,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011156 name: progressive familial intrahepatic cholestasis type 2 def: "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." [Orphanet:79304] -subset: gard_rare {source="GARD:0001288"} +subset: gard_rare {source="GARD:1288"} subset: ordo_clinical_subtype {source="Orphanet:79304"} synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BSEP deficiency" EXACT [Orphanet:79304] @@ -219933,6 +224488,7 @@ synonym: "progressive familial intrahepatic cholestasis caused by mutation in AB synonym: "progressive familial intrahepatic cholestasis type 2" EXACT CLINGEN_PREFERRED [] synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288] xref: DOID:0070222 {source="MONDO:equivalentTo"} +xref: GARD:1288 {source="Orphanet:79304"} xref: ICD10CM:K76.8 {source="Orphanet:79304", source="Orphanet:79304/attributed", source="Orphanet:79304/ntbt"} xref: MESH:C535934 {source="Orphanet:79304", source="Orphanet:79304/e"} xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="Orphanet:79304/e"} @@ -219954,7 +224510,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1288/progres id: MONDO:0011157 name: Gomez-Lopez-Hernandez syndrome def: "A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported." [Orphanet:1532] -subset: gard_rare +subset: gard_rare {source="GARD:229"} subset: ordo_malformation_syndrome {source="Orphanet:1532"} synonym: "Cerebellotrigeminal dermal dysplasia" RELATED [GARD:0000229] synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [OMIM:601853] @@ -219967,6 +224523,7 @@ synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome" RELATED [OMIM:601853] synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853] synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229] synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532] +xref: GARD:229 {source="Orphanet:1532"} xref: ICD10CM:Q07.8 {source="Orphanet:1532/attributed", source="Orphanet:1532/ntbt", source="Orphanet:1532"} xref: MESH:C537285 {source="MONDO:equivalentTo"} xref: OMIM:601853 {source="Orphanet:1532", source="MONDO:equivalentTo", source="Orphanet:1532/e", source="GARD:0000229"} @@ -220010,6 +224567,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011159 name: autosomal dominant nonsyndromic hearing loss 13 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18108"} synonym: "autosomal dominant deafness 13" NARROW [DOID:0110545] synonym: "autosomal dominant nonsyndromic deafness 13" NARROW [OMIM:601868] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] @@ -220019,6 +224577,7 @@ synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical, OMIM:601868, O synonym: "deafness, autosomal dominant type 13" NARROW [MONDORULE:2, OMIM:601868] synonym: "DFNA13" NARROW ABBREVIATION [DOID:0110545, MONDO:Lexical, OMIM:601868] xref: DOID:0110545 {source="MONDO:equivalentTo"} +xref: GARD:18108 {source="OMIM:601868"} xref: ICD10CM:H90.3 {source="DOID:0110545"} xref: MESH:C566612 {source="MONDO:equivalentTo"} xref: OMIM:601868 {source="DOID:0110545", source="MONDO:equivalentTo"} @@ -220034,6 +224593,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011160 name: autosomal recessive nonsyndromic hearing loss 15 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22591"} synonym: "autosomal recessive deafness 15" NARROW [DOID:0110470] synonym: "autosomal recessive deafness 72" NARROW [DOID:0110470] synonym: "autosomal recessive deafness 95" NARROW [DOID:0110470] @@ -220049,6 +224609,7 @@ synonym: "DFNB72" NARROW ABBREVIATION [DOID:0110470] synonym: "DFNB95" NARROW ABBREVIATION [DOID:0110470] synonym: "GIPC3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110470 {source="MONDO:equivalentTo"} +xref: GARD:22591 {source="OMIM:601869"} xref: ICD10CM:H90.3 {source="DOID:0110470"} xref: MESH:C566611 {source="MONDO:equivalentTo"} xref: OMIM:601869 {source="MONDO:equivalentTo", source="DOID:0110470"} @@ -220106,7 +224667,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0011163 name: malignant hyperthermia, susceptibility to, 5 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:3367"} subset: predisposition synonym: "CACNA1S malignant hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -220120,6 +224681,7 @@ synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, synonym: "MHS5" RELATED ABBREVIATION [GARD:0003367, MESH:C535698] synonym: "Mhs5" RELATED [OMIM:601887] synonym: "susceptibility to malignant hyperthermia 5" RELATED [OMIM:601887] +xref: GARD:3367 {source="OMIM:601887"} xref: MESH:C535698 {source="MONDO:equivalentTo"} xref: OMIM:601887 {source="GARD:0003367", source="MONDO:equivalentTo"} xref: Orphanet:423 {source="GARD:0003367", source="OMIM:601887"} @@ -220138,7 +224700,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3367/maligna [Term] id: MONDO:0011164 name: malignant hyperthermia, susceptibility to, 6 -subset: gard_rare +subset: gard_rare {source="GARD:3368"} subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 6" RELATED [GARD:0003368, MESH:C535699] synonym: "malignant hyperthermia susceptibility 6" EXACT [OMIM:601888, OMIM:genemap2] @@ -220147,6 +224709,7 @@ synonym: "malignant hyperthermia, susceptibility to, 6" EXACT [MESH:C535699, OMI synonym: "malignant hyperthermia, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:601888] synonym: "MHS6" RELATED ABBREVIATION [GARD:0003368, MESH:C535699] synonym: "Mhs6" RELATED [OMIM:601888] +xref: GARD:3368 {source="OMIM:601888"} xref: MESH:C535699 {source="MONDO:equivalentTo"} xref: OMIM:601888 {source="GARD:0003368", source="MONDO:equivalentTo"} xref: Orphanet:423 {source="GARD:0003368", source="OMIM:601888"} @@ -220162,6 +224725,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3368/maligna id: MONDO:0011165 name: glomerulopathy with fibronectin deposits 2 def: "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9914"} synonym: "fibronectin glomerulopathy" RELATED [OMIM:601894] synonym: "fibronectin glomerulopathy caused by mutation in FN1" EXACT [MONDO:design_pattern] synonym: "FN1 fibronectin glomerulopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -220170,6 +224734,7 @@ synonym: "glomerular nephritis familial with fibronectin deposits" RELATED [GARD synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [OMIM:601894] synonym: "glomerulopathy with fibronectin deposits 2" EXACT [MONDO:Lexical, OMIM:601894] synonym: "glomerulopathy with fibronectin deposits type 2" EXACT [MONDORULE:1, OMIM:601894] +xref: GARD:9914 {source="OMIM:601894"} xref: OMIM:601894 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="OMIM:601894"} xref: SCTID:722759007 {source="MONDO:equivalentTo"} @@ -220184,7 +224749,7 @@ property_value: confidence "0.22499999999999987" xsd:double id: MONDO:0011166 name: lymphedema-atrial septal defects-facial changes syndrome def: "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." [Orphanet:86915] -subset: gard_rare +subset: gard_rare {source="GARD:284"} subset: ordo_malformation_syndrome {source="Orphanet:86915"} synonym: "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539] synonym: "Irons Bhan syndrome" RELATED [GARD:0000284] @@ -220193,6 +224758,7 @@ synonym: "Irons-Bianchi syndrome" EXACT [OMIM:601927, Orphanet:86915] synonym: "lymphedema, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539] synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927] synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927] +xref: GARD:284 {source="Orphanet:86915"} xref: ICD10CM:Q87.8 {source="Orphanet:86915", source="Orphanet:86915/attributed", source="Orphanet:86915/ntbt"} xref: MESH:C535539 {source="MONDO:equivalentTo"} xref: MESH:C567398 {source="MONDO:equivalentTo"} @@ -220259,12 +224825,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011169 name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome def: "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." [Orphanet:281201] +subset: gard_rare {source="GARD:17306"} subset: ordo_disease {source="Orphanet:281201"} synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [OMIM:601952] synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" EXACT CLINGEN_PREFERRED [] synonym: "KLICK" RELATED ABBREVIATION [OMIM:601952] synonym: "KLICK syndrome" EXACT [Orphanet:281201] synonym: "Klick syndrome" RELATED [OMIM:601952] +xref: GARD:17306 {source="Orphanet:281201"} xref: ICD10CM:Q82.8 {source="Orphanet:281201/attributed", source="Orphanet:281201/ntbt", source="Orphanet:281201"} xref: MESH:C566600 {source="MONDO:equivalentTo"} xref: OMIM:601952 {source="Orphanet:281201/e", source="MONDO:equivalentTo", source="Orphanet:281201"} @@ -220283,6 +224851,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011170 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." [Orphanet:34514] +subset: gard_rare {source="GARD:10471"} subset: ordo_disease {source="Orphanet:34514"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" EXACT [MONDO:design_pattern] @@ -220294,6 +224863,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:L synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110281 {source="MONDO:equivalentTo"} +xref: GARD:10471 {source="Orphanet:34514"} xref: ICD10CM:G71.0 {source="Orphanet:34514/inclusion", source="Orphanet:34514", source="Orphanet:34514/ntbt", source="DOID:0110281"} xref: MESH:C566599 {source="MONDO:equivalentTo"} xref: OMIM:601954 {source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281", source="Orphanet:34514/e"} @@ -220312,11 +224882,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011171 name: odonto-tricho-ungual-digito-palmar syndrome def: "Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." [Orphanet:69082] +subset: gard_rare {source="GARD:16679"} subset: ordo_malformation_syndrome {source="Orphanet:69082"} synonym: "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" EXACT [Orphanet:69082] synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957] synonym: "OTUDP syndrome" EXACT [Orphanet:69082] synonym: "Otudp syndrome" RELATED [OMIM:601957] +xref: GARD:16679 {source="Orphanet:69082"} xref: MESH:C566598 {source="MONDO:equivalentTo"} xref: OMIM:601957 {source="Orphanet:69082", source="MONDO:equivalentTo", source="Orphanet:69082/e"} xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"} @@ -220370,9 +224942,11 @@ is_a: MONDO:0003847 {source="MESH:C566595/inferred"} ! hereditary disease id: MONDO:0011175 name: Friedreich ataxia 2 def: "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11" [OMIM:601992] +subset: gard_rare {source="GARD:15340"} synonym: "FRDA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601992] synonym: "Friedreich ataxia 2" EXACT [MONDO:Lexical, OMIM:601992] xref: DOID:0111219 {source="MONDO:equivalentTo"} +xref: GARD:15340 {source="OMIM:601992"} xref: MESH:C566594 {source="MONDO:equivalentTo"} xref: OMIM:601992 {source="MONDO:equivalentTo"} xref: Orphanet:95 {source="OMIM:601992"} @@ -220384,6 +224958,7 @@ property_value: confidence "1.7529411764705887" xsd:double id: MONDO:0011176 name: intestinal hypomagnesemia 1 def: "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." [Orphanet:30924] +subset: gard_rare {source="GARD:13072"} subset: ordo_disease {source="Orphanet:30924"} synonym: "familial primary hypomagnesemia caused by mutation in TRPM6" EXACT [] synonym: "Homg" RELATED [OMIM:602014] @@ -220403,6 +224978,7 @@ synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:006088 synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060883 {source="MONDO:equivalentTo"} +xref: GARD:13072 {source="Orphanet:30924"} xref: ICD10CM:E83.4 {source="DOID:0060883", source="Orphanet:30924/attributed", source="Orphanet:30924/ntbt", source="Orphanet:30924"} xref: MESH:C566593 {source="MONDO:equivalentTo"} xref: OMIM:602014 {source="Orphanet:30924/e", source="DOID:0060883", source="MONDO:equivalentTo", source="Orphanet:30924"} @@ -220421,7 +224997,7 @@ property_value: confidence "22.33333333333334" xsd:double id: MONDO:0011177 name: ectodermal dysplasia 4, hair/nail type def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:18062"} synonym: "ECTD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602032] synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [MONDO:Lexical, OMIM:602032] synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [OMIM:602032] @@ -220430,6 +225006,7 @@ synonym: "pili torti onychodysplasia" RELATED [GARD:0004364] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT85" EXACT [MONDO:design_pattern] synonym: "twisted hair with nail dysplasias" RELATED [GARD:0004364] xref: DOID:0111658 {source="MONDO:equivalentTo"} +xref: GARD:18062 {source="OMIM:602032"} xref: MESH:C566592 {source="MONDO:equivalentTo"} xref: OMIM:602032 {source="MONDO:equivalentTo", source="GARD:0004364"} xref: Orphanet:69084 {source="OMIM:602032"} @@ -220446,6 +225023,7 @@ property_value: confidence "3.3790228975414154" xsd:double id: MONDO:0011178 name: infantile convulsions and choreoathetosis def: "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." [Orphanet:31709] +subset: gard_rare {source="GARD:8553"} subset: ordo_disease {source="Orphanet:31709"} synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical, OMIM:602066] synonym: "convulsions, infantile, with paroxysmal choreoathetosis, familial" RELATED [GARD:0008553] @@ -220457,6 +225035,7 @@ synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATE synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Orphanet:31709] synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066] synonym: "PKD/IC" EXACT [NCIT:C126650] +xref: GARD:8553 {source="Orphanet:31709"} xref: ICD10CM:G40.4 {source="Orphanet:31709/attributed", source="Orphanet:31709/ntbt", source="Orphanet:31709"} xref: MESH:C535522 {source="MONDO:equivalentTo"} xref: NCIT:C126650 {source="MONDO:equivalentTo"} @@ -220491,6 +225070,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011181 name: fibrosis of extraocular muscles, congenital, 2 def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15341"} synonym: "CFEOM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602078] synonym: "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A" EXACT [MONDO:design_pattern] synonym: "Feom2 locus" RELATED [OMIM:602078] @@ -220499,6 +225079,7 @@ synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELA synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1, OMIM:602078] synonym: "PHOX2A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081016 {source="MONDO:equivalentTo"} +xref: GARD:15341 {source="OMIM:602078"} xref: MESH:C566587 {source="MONDO:equivalentTo"} xref: OMIM:602078 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:602078"} @@ -220555,6 +225136,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011184 name: childhood apraxia of speech +subset: gard_rare {source="GARD:12889"} subset: ordo_disease {source="Orphanet:209908"} synonym: "articulatory apraxia" RELATED [GARD:0012889] synonym: "CAS" EXACT ABBREVIATION [Orphanet:209908] @@ -220569,6 +225151,7 @@ synonym: "speech-language disorder 1" RELATED [MONDO:Lexical, OMIM:602081] synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orphanet:209908] synonym: "speech-language disorder-1" RELATED [GARD:0012889] xref: DOID:0111275 {source="MONDO:equivalentTo"} +xref: GARD:12889 {source="Orphanet:209908"} xref: ICD9:315.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:602081 {source="MONDO:equivalentTo", source="Orphanet:209908", source="Orphanet:209908/e"} xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"} @@ -220582,7 +225165,7 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0011185 name: Thiel-Behnke corneal dystrophy def: "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." [Orphanet:98960] -subset: gard_rare +subset: gard_rare {source="GARD:9275"} subset: ordo_disease {source="Orphanet:98960"} synonym: "anterior limiting membrane dystrophy type 2" EXACT [Orphanet:98960] synonym: "anterior limiting membrane dystrophy type II" EXACT [DOID:0060455, Orphanet:98960] @@ -220605,6 +225188,7 @@ synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275] synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960] xref: DOID:0060455 {source="MONDO:equivalentTo"} +xref: GARD:9275 {source="Orphanet:98960"} xref: ICD10CM:H18.5 {source="Orphanet:98960", source="Orphanet:98960/attributed", source="Orphanet:98960/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e"} @@ -220622,13 +225206,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9275/corneal id: MONDO:0011186 name: Usher syndrome type 1F def: "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." [OMIM:602083] -subset: gard_rare {source="GARD:0010043"} +subset: gard_rare {source="GARD:10043"} synonym: "USH1F" EXACT ABBREVIATION [DOID:0110832, MONDO:Lexical, OMIM:602083] synonym: "Usher syndrome type 1F" EXACT CLINGEN_PREFERRED [] synonym: "Usher syndrome type IF" EXACT [DOID:0110832] synonym: "Usher syndrome, type 1F" RELATED [GARD:0010043] synonym: "USHER syndrome, type IF" RELATED [MONDO:Lexical, OMIM:602083] xref: DOID:0110832 {source="MONDO:equivalentTo"} +xref: GARD:10043 {source="OMIM:602083"} xref: ICD10CM:H35.5 {source="DOID:0110832", source="MONDO:relatedTo"} xref: OMIM:602083 {source="DOID:0110832", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:602083"} @@ -220644,9 +225229,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10043/usher- [Term] id: MONDO:0011187 name: polydactyly, postaxial, type A2 +subset: gard_rare {source="GARD:18173"} synonym: "PAPA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602085] synonym: "polydactyly, postaxial, type A2" EXACT [MONDO:Lexical, OMIM:602085] synonym: "postaxial polydactyly, type A2" RELATED [OMIM:602085] +xref: GARD:18173 {source="OMIM:602085"} xref: MESH:C566585 {source="MONDO:equivalentTo"} xref: OMIM:602085 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:602085"} @@ -220696,6 +225283,7 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0011190 name: nephronophthisis 2 def: "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18182", source="GARD:16825"} synonym: "infantile nephronophthisis 2" EXACT [DOID:0111113] synonym: "INVS nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in INVS" EXACT [] @@ -220706,6 +225294,8 @@ synonym: "NPH2" EXACT ABBREVIATION [DOID:0111113] synonym: "Nph2" RELATED [OMIM:602088] synonym: "NPHP2" EXACT ABBREVIATION [DOID:0111113, MONDO:Lexical, OMIM:602088] xref: DOID:0111113 {source="MONDO:equivalentTo"} +xref: GARD:16825 {source="Orphanet:93591"} +xref: GARD:18182 {source="OMIM:602088"} xref: MESH:C566582 {source="MONDO:equivalentTo"} xref: OMIM:602088 {source="MONDO:equivalentTo", source="DOID:0111113"} xref: Orphanet:655 {source="OMIM:602088"} @@ -220748,6 +225338,7 @@ id: MONDO:0011192 name: autosomal recessive nonsyndromic hearing loss 18A def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22592"} synonym: "autosomal recessive deafness 18A" NARROW [DOID:0110473] synonym: "autosomal recessive nonsyndromic deafness 18A" NARROW [OMIM:602092] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in USH1C" NARROW [MONDO:design_pattern] @@ -220759,6 +225350,7 @@ synonym: "deafness, autosomal recessive type 18A" NARROW [MONDORULE:4, OMIM:6020 synonym: "DFNB18A" NARROW ABBREVIATION [DOID:0110473, MONDO:Lexical, OMIM:602092] synonym: "USH1C autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110473 {source="MONDO:equivalentTo"} +xref: GARD:22592 {source="OMIM:602092"} xref: ICD10CM:H90.3 {source="DOID:0110473"} xref: MESH:C566580 {source="MONDO:equivalentTo"} xref: OMIM:602092 {source="MONDO:equivalentTo", source="DOID:0110473"} @@ -220774,6 +225366,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011193 name: cone dystrophy 3 def: "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15342"} synonym: "COD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern] @@ -220783,6 +225376,7 @@ synonym: "cone-rod dystrophy 14" RELATED [OMIM:602093] synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinal cone dystrophy" RELATED [OMIM:602093] xref: DOID:0080314 {source="MONDO:equivalentTo"} +xref: GARD:15342 {source="OMIM:602093"} xref: MESH:C566579 {source="DOID:0080314"} xref: OMIM:602093 {source="MONDO:equivalentTo", source="DOID:0080314"} xref: Orphanet:1871 {source="OMIM:602093"} @@ -220802,6 +225396,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011194 name: Alzheimer disease 5 +subset: gard_rare {source="GARD:16507"} synonym: "AD5" EXACT ABBREVIATION [DOID:0110037] synonym: "Ad5" RELATED [OMIM:602096] synonym: "Alzheimer disease 5" EXACT [DOID:0110037, OMIM:602096] @@ -220812,6 +225407,7 @@ synonym: "Alzheimer disease-5" EXACT [OMIM:602096, OMIM:genemap2] synonym: "Alzheimer's disease 5" RELATED [DOID:0110037] synonym: "Alzheimer's disease type 5" EXACT [DOID:0110037, MONDORULE:1] xref: DOID:0110037 {source="MONDO:equivalentTo"} +xref: GARD:16507 {source="OMIM:602096"} xref: ICD10CM:G30 {source="DOID:0110037"} xref: MESH:C566578 {source="MONDO:equivalentTo"} xref: OMIM:602096 {source="MONDO:equivalentTo"} @@ -220825,12 +225421,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011195 name: Usher syndrome type 1E def: "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." [OMIM:602097] -subset: gard_rare {source="GARD:0005439"} +subset: gard_rare {source="GARD:5439"} synonym: "USH1E" EXACT ABBREVIATION [DOID:0110833, MONDO:Lexical, OMIM:602097] synonym: "Usher syndrome type IE" EXACT [DOID:0110833] synonym: "Usher syndrome, type 1E" RELATED [GARD:0005439] synonym: "USHER syndrome, type IE" RELATED [MONDO:Lexical, OMIM:602097] xref: DOID:0110833 {source="MONDO:equivalentTo"} +xref: GARD:5439 {source="OMIM:602097"} xref: ICD10CM:H35.5 {source="DOID:0110833", source="MONDO:relatedTo"} xref: OMIM:602097 {source="DOID:0110833", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:602097"} @@ -220846,13 +225443,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5439/usher-s id: MONDO:0011196 name: amyotrophic lateral sclerosis type 5 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010503"} +subset: gard_rare {source="GARD:15343"} synonym: "ALS5" EXACT ABBREVIATION [DOID:0060197, MONDO:Lexical, OMIM:602099] synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197, OMIM:602099] synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical, OMIM:602099] synonym: "amyotrophic lateral sclerosis caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "SPG11 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060197 {source="MONDO:equivalentTo"} +xref: GARD:15343 {source="OMIM:602099"} xref: MESH:C566576 {source="MONDO:equivalentTo"} xref: OMIM:602099 {source="DOID:0060197", source="MONDO:equivalentTo"} xref: Orphanet:300605 {source="OMIM:602099"} @@ -220869,8 +225467,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10503/amyotr id: MONDO:0011197 name: hereditary thermosensitive neuropathy def: "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." [Orphanet:84093] +subset: gard_rare {source="GARD:16731"} subset: ordo_disease {source="Orphanet:84093"} synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107] +xref: GARD:16731 {source="Orphanet:84093"} xref: ICD10CM:G60.0 {source="Orphanet:84093/attributed", source="Orphanet:84093/ntbt", source="Orphanet:84093"} xref: MESH:C566575 {source="MONDO:equivalentTo"} xref: OMIM:602107 {source="Orphanet:84093/e", source="MONDO:equivalentTo", source="Orphanet:84093"} @@ -220887,7 +225487,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011198 name: spondyloepimetaphyseal dysplasia, Missouri type def: "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." [https://orcid.org/0000-0001-5208-3432, Orphanet:93356] -subset: gard_rare {source="GARD:0010618"} +subset: gard_rare {source="GARD:10618"} subset: ordo_disease {source="Orphanet:93356"} synonym: "metaphyseal anadysplasia 1" RELATED [OMIM:602111] synonym: "Missouri type of spondyloepimetaphyseal dysplasia" RELATED [GARD:0010618] @@ -220898,6 +225498,7 @@ synonym: "spondyloepimetaphyseal dysplasia Missouri type" RELATED [GARD:0010618] synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356] synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111] xref: DOID:0080030 {source="MONDO:equivalentTo"} +xref: GARD:10618 {source="Orphanet:93356"} xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="Orphanet:93356/attributed", source="Orphanet:93356/ntbt"} xref: OMIM:602111 {source="DOID:0080030", source="MONDO:equivalentTo", source="Orphanet:93356", source="Orphanet:93356/e"} xref: Orphanet:1040 {source="OMIM:602111"} @@ -220918,7 +225519,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10618/spondy [Term] id: MONDO:0011199 name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease +subset: gard_rare {source="GARD:15344"} synonym: "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" EXACT [OMIM:602114] +xref: GARD:15344 {source="OMIM:602114"} xref: MESH:C566573 {source="MONDO:equivalentTo"} xref: OMIM:602114 {source="MONDO:equivalentTo"} xref: Orphanet:171 {source="OMIM:602114"} @@ -220968,11 +225571,13 @@ id: MONDO:0011202 name: RHYNS syndrome def: "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." [Orphanet:140976] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:9681"} subset: ordo_disease {source="Orphanet:140976"} synonym: "retinitis pigmentosa syndrome" RELATED [OMIM:602152] synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [OMIM:602152] synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976] synonym: "RHYNS syndrome" EXACT [OMIM:602152] +xref: GARD:9681 {source="Orphanet:140976"} xref: MESH:C537612 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} xref: OMIM:602152 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} xref: Orphanet:140976 {source="MONDO:equivalentTo", source="OMIM:602152"} @@ -220991,10 +225596,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011203 name: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies -subset: gard_rare {source="GARD:0010090"} +subset: gard_rare {source="GARD:10090"} synonym: "campomelic dysplasia, mild" RELATED [OMIM:602196] synonym: "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" EXACT [OMIM:602196] synonym: "skeletal dysplasia related to campomelic dysplasia" RELATED [OMIM:602196] +xref: GARD:10090 {source="OMIM:602196"} xref: MESH:C535775 {source="MONDO:equivalentTo"} xref: OMIM:602196 {source="MONDO:equivalentTo"} xref: Orphanet:140 {source="OMIM:602196"} @@ -221020,7 +225626,6 @@ is_obsolete: true [Term] id: MONDO:0011205 name: medium chain 3-ketoacyl-Coa thiolase deficiency -subset: gard_rare {source="GARD:0010329"} synonym: "Mckat deficiency" RELATED [OMIM:602199] synonym: "medium chain 3-ketoacyl-Coa thiolase deficiency" EXACT [OMIM:602199] synonym: "medium-chain 3-ketoacyl-coa thiolase deficiency" RELATED [GARD:0010329] @@ -221042,8 +225647,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011207 name: xanthomatosis, susceptibility to +subset: gard_rare {source="GARD:18613"} subset: predisposition synonym: "xanthomatosis, susceptibility to" EXACT [OMIM:602247] +xref: GARD:18613 {source="OMIM:602247"} xref: OMIM:602247 {source="MONDO:equivalentTo"} xref: Orphanet:391665 {source="OMIM:602247"} xref: UMLS:C1865704 {source="OMIM:602247", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -221057,6 +225664,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011208 name: malignant atrophic papulosis def: "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." [Orphanet:679] +subset: gard_rare {source="GARD:6249"} subset: ordo_disease {source="Orphanet:679"} synonym: "atrophic papulosis, malignant" RELATED [GARD:0006249] synonym: "Degos disease" EXACT [OMIM:602248, Orphanet:679] @@ -221069,6 +225677,7 @@ synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679] synonym: "malignant atrophic papulosis" EXACT [OMIM:602248] synonym: "papulosis atrophican maligna" EXACT [Orphanet:679] synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248] +xref: GARD:6249 {source="Orphanet:679"} xref: ICD10CM:I77.8 {source="Orphanet:679/ntbt", source="Orphanet:679", source="Orphanet:679/index"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064281 {source="Orphanet:679", source="Orphanet:679/e"} @@ -221104,7 +225713,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011211 name: axial spondylometaphyseal dysplasia def: "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia] -subset: gard_rare {source="GARD:0008720"} +subset: gard_rare {source="GARD:8720"} subset: ordo_disease {source="Orphanet:168549"} synonym: "axial SmD" RELATED [OMIM:602271] synonym: "SmD axial" RELATED [GARD:0008720] @@ -221113,6 +225722,7 @@ synonym: "SMDAX" RELATED ABBREVIATION [OMIM:602271] synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720] synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271] xref: DOID:0112299 {source="MONDO:equivalentTo"} +xref: GARD:8720 {source="Orphanet:168549"} xref: ICD10CM:Q77.8 {source="Orphanet:168549", source="Orphanet:168549/attributed", source="Orphanet:168549/ntbt"} xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} @@ -221140,6 +225750,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011213 name: Pierpont syndrome def: "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." [Orphanet:487825] +subset: gard_rare {source="GARD:17885"} subset: ordo_malformation_syndrome synonym: "PIERPONT syndrome" RELATED [OMIM:602342] synonym: "Pierpont syndrome" EXACT [OMIM:602342] @@ -221148,6 +225759,7 @@ synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" E synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [Orphanet:487825] synonym: "PRPTS" RELATED ABBREVIATION [OMIM:602342] xref: DOID:0081362 {source="MONDO:equivalentTo"} +xref: GARD:17885 {source="Orphanet:487825"} xref: MESH:C566559 {source="MONDO:equivalentTo"} xref: OMIM:602342 {source="MONDO:equivalentTo", source="Orphanet:487825"} xref: Orphanet:487825 {source="MONDO:equivalentTo"} @@ -221164,7 +225776,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011214 name: progressive familial intrahepatic cholestasis type 3 def: "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." [Orphanet:79305] -subset: gard_rare {source="GARD:0001289"} +subset: gard_rare {source="GARD:1289"} subset: ordo_clinical_subtype {source="Orphanet:79305"} synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cholestasis, progressive familial intrahepatic 3" EXACT [OMIM:602347, OMIM:genemap2] @@ -221176,6 +225788,7 @@ synonym: "PFIC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602347, Orphanet:79305] synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289] xref: DOID:0070223 {source="MONDO:equivalentTo"} +xref: GARD:1289 {source="Orphanet:79305"} xref: ICD10CM:K76.8 {source="Orphanet:79305/attributed", source="Orphanet:79305/ntbt", source="Orphanet:79305"} xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} @@ -221194,6 +225807,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1289/progres id: MONDO:0011215 name: osteocraniostenosis def: "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." [Orphanet:2763] +subset: gard_rare {source="GARD:3396"} subset: ordo_malformation_syndrome {source="Orphanet:2763"} synonym: "GCLEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602361] synonym: "gracile bone dysplasia" EXACT [MONDO:Lexical, OMIM:602361, Orphanet:2763] @@ -221202,6 +225816,7 @@ synonym: "Osteocraniosplenic syndrome" EXACT [OMIM:602361, Orphanet:2763] synonym: "osteocraniostenosis" EXACT [OMIM:602361] synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396] synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361] +xref: GARD:3396 {source="Orphanet:2763"} xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"} xref: MESH:C537291 {source="MONDO:equivalentTo"} xref: OMIM:602361 {source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e"} @@ -221240,9 +225855,10 @@ property_value: confidence "37.333333333333336" xsd:double id: MONDO:0011217 name: desmosterolosis def: "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." [Orphanet:35107] -subset: gard_rare {source="GARD:0010283"} +subset: gard_rare {source="GARD:10283"} subset: ordo_disease {source="Orphanet:35107"} synonym: "desmosterolosis" EXACT [OMIM:602398] +xref: GARD:10283 {source="Orphanet:35107"} xref: ICD10CM:Q87.8 {source="Orphanet:35107/attributed", source="Orphanet:35107/ntbt", source="Orphanet:35107"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566555 {source="MONDO:equivalentTo"} @@ -221261,6 +225877,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10283/desmos [Term] id: MONDO:0011218 name: autosomal recessive congenital ichthyosis 11 +subset: gard_rare {source="GARD:10116"} subset: ordo_disease {source="Orphanet:91132"} synonym: "ARCI11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602400] synonym: "ARIH" RELATED ABBREVIATION [GARD:0010116] @@ -221278,6 +225895,7 @@ synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720] synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "IHS" EXACT ABBREVIATION [DOID:0060720, Orphanet:91132] xref: DOID:0060720 {source="MONDO:equivalentTo"} +xref: GARD:10116 {source="Orphanet:91132"} xref: ICD10CM:Q80.8 {source="Orphanet:91132/attributed", source="Orphanet:91132/ntbt", source="Orphanet:91132", source="DOID:0060720"} xref: MESH:C536273 {source="MONDO:equivalentTo"} xref: OMIM:602400 {source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720", source="Orphanet:91132/e"} @@ -221293,10 +225911,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011219 name: Fried's tooth and nail syndrome +subset: gard_rare {source="GARD:16903"} subset: ordo_malformation_syndrome {source="Orphanet:99672"} synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602401] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401] xref: DOID:0111661 {source="MONDO:equivalentTo"} +xref: GARD:16903 {source="Orphanet:99672"} xref: OMIM:602401 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"} xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"} xref: SCTID:239020008 {source="MONDO:equivalentTo"} @@ -221309,6 +225929,7 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0011220 name: parkinson disease 3, autosomal dominant +subset: gard_rare {source="GARD:8578"} synonym: "autosomal dominant Parkinson disease" RELATED [GARD:0008578] synonym: "PARK3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602404] synonym: "Parkinson disease 3" EXACT [OMIM:602404, OMIM:genemap2] @@ -221316,6 +225937,7 @@ synonym: "Parkinson disease 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM: synonym: "Parkinson disease 3, autosomal dominant Lewy body" RELATED [OMIM:602404] synonym: "Parkinson disease type 3" RELATED [GARD:0008578] xref: DOID:0111250 {source="MONDO:equivalentTo"} +xref: GARD:8578 {source="OMIM:602404"} xref: MESH:C566552 {source="MONDO:equivalentTo"} xref: OMIM:602404 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:602404"} @@ -221328,7 +225950,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011221 name: Weyers ulnar ray/oligodactyly syndrome -subset: gard_rare {source="GARD:0010178"} synonym: "Weyers ulnar ray/oligodactyly syndrome" EXACT [OMIM:602418] xref: MESH:C536696 {source="MONDO:equivalentTo"} xref: OMIM:602418 {source="MONDO:equivalentTo"} @@ -221355,7 +225976,7 @@ is_obsolete: true id: MONDO:0011223 name: amyotrophic lateral sclerosis type 4 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010502"} +subset: gard_rare {source="GARD:10502"} subset: ordo_disease {source="Orphanet:357043"} synonym: "ALS 4" EXACT [DOID:0060196, OMIM:602433] synonym: "ALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602433, Orphanet:357043] @@ -221368,6 +225989,7 @@ synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXAC synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433] synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060196 {source="MONDO:equivalentTo"} +xref: GARD:10502 {source="Orphanet:357043"} xref: ICD10CM:G12.2 {source="Orphanet:357043/attributed", source="Orphanet:357043/ntbt", source="Orphanet:357043", source="DOID:0060196"} xref: MESH:C566550 {source="MONDO:equivalentTo"} xref: OMIM:602433 {source="Orphanet:357043/e", source="MONDO:equivalentTo", source="Orphanet:357043", source="DOID:0060196"} @@ -221385,7 +226007,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10502/amyotr id: MONDO:0011224 name: monomelic amyotrophy def: "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." [Orphanet:65684] -subset: gard_rare {source="GARD:0009697"} +subset: gard_rare {source="GARD:9697"} subset: ordo_disease {source="Orphanet:65684"} synonym: "amyotrophy, monomelic" RELATED [OMIM:602440] synonym: "benign focal amyotrophy" EXACT [Orphanet:65684] @@ -221396,6 +226018,7 @@ synonym: "juvenile muscular atrophy of the distal upper limb" EXACT [Orphanet:65 synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697] synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440] xref: EFO:1001989 {source="MONDO:equivalentTo"} +xref: GARD:9697 {source="Orphanet:65684"} xref: ICD10CM:G12.8 {source="Orphanet:65684/ntbt", source="Orphanet:65684"} xref: MedDRA:10069681 {source="Orphanet:65684/e", source="Orphanet:65684"} xref: MESH:C538253 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} @@ -221410,7 +226033,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9697/monomel id: MONDO:0011225 name: severe combined immunodeficiency due to DCLRE1C deficiency def: "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." [Orphanet:275] -subset: gard_rare {source="GARD:0009987"} +subset: gard_rare {source="GARD:9987"} subset: ordo_disease {source="Orphanet:275"} synonym: "artemis deficiency" RELATED [DOID:0060006] synonym: "Athabaskan Severe combined immunodeficiency" RELATED [OMIM:602450] @@ -221435,6 +226058,7 @@ synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [OMIM:60245 synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450] xref: DOID:0060006 {source="MONDO:equivalentObsolete"} xref: DOID:0090012 {source="MONDO:equivalentTo"} +xref: GARD:9987 {source="Orphanet:275"} xref: ICD10CM:D81.1 {source="DOID:0090012", source="Orphanet:275/attributed", source="Orphanet:275/ntbt", source="Orphanet:275"} xref: OMIM:602450 {source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275/ntbt", source="Orphanet:275", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:231053 {source="GARD:0009987"} @@ -221456,6 +226080,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9987/severe- id: MONDO:0011226 name: autosomal dominant nonsyndromic hearing loss 15 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18109"} synonym: "autosomal dominant deafness 15" NARROW [DOID:0110546] synonym: "autosomal dominant nonsyndromic deafness 15" NARROW [OMIM:602459] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" NARROW [MONDO:design_pattern] @@ -221465,6 +226090,7 @@ synonym: "deafness, autosomal dominant type 15" NARROW [MONDORULE:2, OMIM:602459 synonym: "DFNA15" NARROW ABBREVIATION [DOID:0110546, MONDO:Lexical, OMIM:602459] synonym: "POU4F3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110546 {source="MONDO:equivalentTo"} +xref: GARD:18109 {source="OMIM:602459"} xref: ICD10CM:H90.3 {source="DOID:0110546"} xref: MESH:C566545 {source="MONDO:equivalentTo"} xref: OMIM:602459 {source="DOID:0110546", source="MONDO:equivalentTo"} @@ -221479,11 +226105,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011227 name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome +subset: gard_rare {source="GARD:17633"} subset: ordo_malformation_syndrome {source="Orphanet:397623"} synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602471] synonym: "SAMS syndrome" EXACT [Orphanet:397623] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [OMIM:602471, OMIM:genemap2] +xref: GARD:17633 {source="Orphanet:397623"} xref: ICD10CM:Q87.1 {source="Orphanet:397623", source="Orphanet:397623/attributed", source="Orphanet:397623/ntbt"} xref: MESH:C566544 {source="MONDO:equivalentTo"} xref: OMIM:602471 {source="MONDO:equivalentTo", source="Orphanet:397623", source="Orphanet:397623/e"} @@ -221513,7 +226141,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011229 name: ethylmalonic encephalopathy def: "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." [Orphanet:51188] -subset: gard_rare {source="GARD:0002198"} +subset: gard_rare {source="GARD:2198"} subset: ordo_disease {source="Orphanet:51188"} synonym: "EE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602473] synonym: "eme" RELATED [GARD:0002198] @@ -221522,6 +226150,7 @@ synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:00 synonym: "EPEMA syndrome" RELATED [GARD:0002198] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] xref: DOID:0060640 {source="MONDO:equivalentTo"} +xref: GARD:2198 {source="Orphanet:51188"} xref: ICD10CM:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="Orphanet:51188/attributed", source="Orphanet:51188/ntbt"} xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} @@ -221575,6 +226204,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011232 name: migraine, familial hemiplegic, 2 def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10095"} synonym: "ATP1A2 familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial hemiplegic migraine type 2" RELATED [GARD:0010095] synonym: "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] @@ -221585,6 +226215,7 @@ synonym: "migraine, familial basilar" RELATED [OMIM:602481] synonym: "migraine, familial hemiplegic, 2" EXACT [MONDO:Lexical, OMIM:602481] synonym: "migraine, familial hemiplegic, type 2" EXACT [MONDORULE:1, OMIM:602481] xref: DOID:0111182 {source="MONDO:equivalentTo"} +xref: GARD:10095 {source="OMIM:602481"} xref: OMIM:602481 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:602481"} xref: UMLS:C1865322 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602481"} @@ -221599,6 +226230,7 @@ property_value: confidence "1.0" xsd:double id: MONDO:0011233 name: Axenfeld-Rieger syndrome type 3 def: "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9626"} synonym: "anterior chamber Cleavage syndrome" RELATED [OMIM:602482] synonym: "anterior chamber cleavage syndrome" EXACT [DOID:0110122] synonym: "anterior segment mesenchymal dysgenesis" RELATED [DOID:0110122, OMIM:602482] @@ -221616,6 +226248,7 @@ synonym: "Rieger anomaly" RELATED [OMIM:602482] synonym: "Rieger syndrome type 3" EXACT [DOID:0110122] synonym: "Rieger syndrome, type 3" RELATED [OMIM:602482] xref: DOID:0110122 {source="MONDO:equivalentTo"} +xref: GARD:9626 {source="OMIM:602482"} xref: ICD10CM:Q13.8 {source="DOID:0110122"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:602482 {source="MONDO:equivalentTo", source="DOID:0110122"} @@ -221638,6 +226271,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011234 name: auriculocondylar syndrome 1 def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15346"} synonym: "ARCND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602483] synonym: "AURICULOCONDYLAR syndrome 1" RELATED [OMIM:602483] synonym: "Auriculocondylar syndrome 1" EXACT [MONDO:Lexical, OMIM:602483] @@ -221645,6 +226279,7 @@ synonym: "auriculocondylar syndrome caused by mutation in GNAI3" EXACT [MONDO:de synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1, OMIM:602483] synonym: "GNAI3 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "question Mark ears syndrome" RELATED [OMIM:602483] +xref: GARD:15346 {source="OMIM:602483"} xref: OMIM:602483 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:602483"} xref: UMLS:C1865295 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:602483"} @@ -221658,12 +226293,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011235 name: pelvic dysplasia-arthrogryposis of lower limbs syndrome +subset: gard_rare {source="GARD:4269"} subset: ordo_malformation_syndrome {source="Orphanet:2840"} synonym: "pelvic dysplasia arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484] synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840] +xref: GARD:4269 {source="Orphanet:2840"} xref: MESH:C535292 {source="Orphanet:2840", source="Orphanet:2840/e"} xref: MESH:C535548 {source="Orphanet:2840", source="Orphanet:2840/e"} xref: OMIM:602484 {source="Orphanet:2840", source="MONDO:equivalentTo", source="Orphanet:2840/e"} @@ -221683,7 +226320,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011236 name: hyperinsulinism due to glucokinase deficiency def: "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." [Orphanet:79299] -subset: gard_rare +subset: gard_rare {source="GARD:2818"} subset: ordo_disease {source="Orphanet:79299"} synonym: "HHF3" RELATED ABBREVIATION [GARD:0009930, MONDO:Lexical, OMIM:602485] synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [Orphanet:79299] @@ -221691,6 +226328,7 @@ synonym: "hyperinsulinemic hypoglycemia familial 3" RELATED [GARD:0009930] synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical, OMIM:602485] synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, OMIM:602485] xref: DOID:0070216 {source="MONDO:equivalentTo"} +xref: GARD:2818 {source="Orphanet:79299"} xref: ICD10CM:E16.1 {source="Orphanet:79299/attributed", source="Orphanet:79299/ntbt", source="Orphanet:79299"} xref: MESH:C538374 {source="MONDO:equivalentTo"} xref: OMIM:602485 {source="Orphanet:79299/e", source="MONDO:equivalentTo", source="Orphanet:79299", source="GARD:0009930"} @@ -221730,8 +226368,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011238 name: chondrodysplasia punctata, brachytelephalangic, autosomal +subset: gard_rare {source="GARD:15347"} synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [OMIM:602497] synonym: "chondrodysplasia punctata, brachytelephalangic, autosomal" EXACT [OMIM:602497] +xref: GARD:15347 {source="OMIM:602497"} xref: OMIM:602497 {source="MONDO:equivalentTo"} xref: UMLS:C1844853 {source="OMIM:602497", source="MONDO:relatedTo"} xref: UMLS:C1865288 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -221741,10 +226381,12 @@ property_value: confidence "0.6823076923076923" xsd:double [Term] id: MONDO:0011239 name: colobomatous macrophthalmia-microcornea syndrome +subset: gard_rare {source="GARD:17844"} subset: ordo_disease {source="Orphanet:468672"} synonym: "MACOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602499] synonym: "MACOM syndrome" EXACT [Orphanet:468672] synonym: "macrophthalmia, colobomatous, with microcornea" RELATED [MONDO:Lexical, OMIM:602499] +xref: GARD:17844 {source="Orphanet:468672"} xref: MESH:C566533 {source="MONDO:equivalentTo"} xref: OMIM:602499 {source="MONDO:equivalentTo", source="Orphanet:468672"} xref: Orphanet:468672 {source="MONDO:equivalentTo"} @@ -221759,6 +226401,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011240 name: megalencephaly-capillary malformation-polymicrogyria syndrome def: "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:60040] +subset: gard_rare {source="GARD:6950"} subset: ordo_malformation_syndrome {source="Orphanet:60040"} synonym: "M-CM" RELATED [GARD:0006950] synonym: "M-CMTC" RELATED [GARD:0006950] @@ -221777,6 +226420,7 @@ synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501] synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] +xref: GARD:6950 {source="Orphanet:60040"} xref: ICD10CM:Q87.3 {source="Orphanet:60040/attributed", source="Orphanet:60040/ntbt", source="Orphanet:60040"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536142 {source="MONDO:equivalentTo"} @@ -221809,6 +226453,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011242 name: Bartter disease type 4A def: "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15348"} synonym: "BARTS4A" EXACT ABBREVIATION [DOID:0110145] synonym: "Bartter disease type 4a" EXACT CLINGEN_PREFERRED [] synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern] @@ -221822,6 +226467,7 @@ synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/dis synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145] synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522] xref: DOID:0110145 {source="MONDO:equivalentTo"} +xref: GARD:15348 {source="OMIM:602522"} xref: ICD10CM:E26.8 {source="DOID:0110145"} xref: OMIM:602522 {source="MONDO:equivalentTo", source="DOID:0110145"} xref: Orphanet:112 {source="OMIM:602522"} @@ -221839,12 +226485,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011243 name: grange syndrome def: "Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." [Orphanet:79094] +subset: gard_rare {source="GARD:16697"} subset: ordo_malformation_syndrome {source="Orphanet:79094"} synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [OMIM:602531] synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094] synonym: "grange syndrome" EXACT [OMIM:602531] synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531] synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094] +xref: GARD:16697 {source="Orphanet:79094"} xref: ICD10CM:Q87.8 {source="Orphanet:79094/attributed", source="Orphanet:79094/ntbt", source="Orphanet:79094"} xref: MESH:C566529 {source="MONDO:equivalentTo"} xref: OMIM:602531 {source="Orphanet:79094", source="MONDO:equivalentTo", source="Orphanet:79094/e"} @@ -221860,13 +226508,14 @@ property_value: confidence "9.0" xsd:double id: MONDO:0011244 name: Marshall-Smith syndrome def: "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." [Orphanet:561] -subset: gard_rare {source="GARD:0006985"} +subset: gard_rare {source="GARD:6985"} subset: ordo_malformation_syndrome {source="Orphanet:561"} synonym: "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" EXACT [Orphanet:561] synonym: "Marshall-SMITH syndrome" RELATED [OMIM:602535] synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535] synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535] xref: DOID:0050858 {source="MONDO:equivalentTo"} +xref: GARD:6985 {source="Orphanet:561"} xref: ICD10CM:Q87.3 {source="Orphanet:561/attributed", source="Orphanet:561/ntbt", source="Orphanet:561"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536026 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="Orphanet:561"} @@ -221887,9 +226536,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6985/marshal [Term] id: MONDO:0011245 name: ichthyosis, hystrix-like, with hearing loss +subset: gard_rare {source="GARD:15349"} synonym: "HID syndrome" RELATED [OMIM:602540] synonym: "hystrix-like ichthyosis with deafness" EXACT [OMIM:602540, OMIM:genemap2] synonym: "ichthyosis, hystrix-like, with deafness" NARROW [OMIM:602540] +xref: GARD:15349 {source="OMIM:602540"} xref: MESH:C566528 {source="MONDO:equivalentTo"} xref: OMIM:602540 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="OMIM:602540"} @@ -221903,7 +226554,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011246 name: megaconial type congenital muscular dystrophy -subset: gard_rare {source="GARD:0010317"} +subset: gard_rare {source="GARD:10317"} subset: ordo_disease {source="Orphanet:280671"} synonym: "congenital megaconial myopathy" EXACT [DOID:0110632, Orphanet:280671] synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632] @@ -221915,6 +226566,7 @@ synonym: "megaconial type congenital muscular dystrophy" EXACT CLINGEN_PREFERRED synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical, OMIM:602541] synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541] xref: DOID:0110632 {source="MONDO:equivalentTo"} +xref: GARD:10317 {source="Orphanet:280671"} xref: ICD10CM:G71.2 {source="DOID:0110632", source="Orphanet:280671", source="Orphanet:280671/attributed", source="Orphanet:280671/ntbt"} xref: MESH:C566527 {source="MONDO:equivalentTo"} xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="Orphanet:280671", source="Orphanet:280671/e"} @@ -221931,7 +226583,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10317/muscul [Term] id: MONDO:0011247 name: jejunal atresia with renal adysplasia -subset: gard_rare {source="GARD:0009985"} synonym: "jejunal atresia with renal adysplasia" EXACT [OMIM:602551] xref: MESH:C537567 {source="MONDO:equivalentTo"} xref: OMIM:602551 {source="MONDO:equivalentTo"} @@ -221943,6 +226594,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9985/jejunal id: MONDO:0011248 name: distal monosomy 13q def: "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." [Orphanet:1590] +subset: gard_rare {source="GARD:16571"} subset: ordo_malformation_syndrome {source="Orphanet:1590"} synonym: "13q32 deletion" EXACT [Orphanet:1590] synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [OMIM:602553] @@ -221951,6 +226603,7 @@ synonym: "distal 13q deletion" EXACT [Orphanet:1590] synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590] synonym: "monosomy 13q32" EXACT [Orphanet:1590] synonym: "telomeric deletion13q" EXACT [Orphanet:1590] +xref: GARD:16571 {source="Orphanet:1590"} xref: ICD10CM:Q93.5 {source="Orphanet:1590/attributed", source="Orphanet:1590/ntbt", source="Orphanet:1590"} xref: MESH:C566526 {source="MONDO:equivalentTo"} xref: OMIM:602553 {source="Orphanet:1590/e", source="MONDO:equivalentTo", source="Orphanet:1590"} @@ -221971,8 +226624,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011249 name: torsion dystonia with onset in infancy def: "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." [DOID:0090058] +subset: gard_rare {source="GARD:9631"} synonym: "torsion dystonia with onset in infancy" EXACT [OMIM:602554] xref: DOID:0090058 {source="MONDO:equivalentTo"} +xref: GARD:9631 {source="OMIM:602554"} xref: ICD10CM:G24.1 {source="DOID:0090058"} xref: MESH:C536969 {source="MONDO:equivalentTo"} xref: OMIM:602554 {source="DOID:0090058", source="MONDO:equivalentTo"} @@ -222004,13 +226659,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011252 name: spondyloepimetaphyseal dysplasia, Shohat type def: "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." [https://orcid.org/0000-0001-5208-3432, Orphanet:93352] -subset: gard_rare {source="GARD:0004980"} +subset: gard_rare {source="GARD:4980"} subset: ordo_disease {source="Orphanet:93352"} synonym: "SEMD Shohat type" RELATED [GARD:0004980] synonym: "SEMD, Shohat type" EXACT [OMIM:602557, Orphanet:93352] synonym: "SEMDSH" RELATED ABBREVIATION [OMIM:602557] synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980] synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557] +xref: GARD:4980 {source="Orphanet:93352"} xref: ICD10CM:Q77.7 {source="Orphanet:93352/attributed", source="Orphanet:93352/ntbt", source="Orphanet:93352"} xref: MESH:C566523 {source="MONDO:equivalentTo"} xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="Orphanet:93352/e"} @@ -222027,9 +226683,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4980/spondyl id: MONDO:0011253 name: craniomicromelic syndrome def: "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." [Orphanet:1524] -subset: gard_rare {source="GARD:0001583"} +subset: gard_rare {source="GARD:1583"} subset: ordo_malformation_syndrome {source="Orphanet:1524"} synonym: "craniomicromelic syndrome" EXACT [OMIM:602558] +xref: GARD:1583 {source="Orphanet:1524"} xref: ICD10CM:Q87.0 {source="Orphanet:1524", source="Orphanet:1524/attributed", source="Orphanet:1524/ntbt"} xref: MESH:C566522 {source="MONDO:equivalentTo"} xref: OMIM:602558 {source="MONDO:equivalentTo", source="Orphanet:1524", source="Orphanet:1524/e"} @@ -222055,11 +226712,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011255 name: mandibulofacial dysostosis-macroblepharon-macrostomia syndrome +subset: gard_rare {source="GARD:17547"} subset: ordo_disease {source="Orphanet:357158"} synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OMIM:602562] synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158] synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562] synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562] +xref: GARD:17547 {source="Orphanet:357158"} xref: ICD10CM:Q87.0 {source="Orphanet:357158", source="Orphanet:357158/attributed", source="Orphanet:357158/ntbt"} xref: MESH:C566520 {source="MONDO:equivalentTo"} xref: OMIM:602562 {source="Orphanet:357158", source="MONDO:equivalentTo", source="Orphanet:357158/e"} @@ -222084,6 +226743,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011257 name: MPI-congenital disorder of glycosylation def: "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." [Orphanet:79319] +subset: gard_rare {source="GARD:9830"} subset: ordo_disease {source="Orphanet:79319"} synonym: "carbohydrate deficient glycoprotein syndrome type IB" EXACT [Orphanet:79319] synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" RELATED [GARD:0009830] @@ -222108,6 +226768,7 @@ synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [OMIM:602579] synonym: "SLSJ syndrome" RELATED [GARD:0009830] synonym: "Slsj syndrome" RELATED [OMIM:602579] xref: DOID:0080554 {source="MONDO:equivalentTo"} +xref: GARD:9830 {source="Orphanet:79319"} xref: ICD10CM:E77.8 {source="Orphanet:79319/attributed", source="Orphanet:79319/ntbt", source="Orphanet:79319"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535740 {source="MONDO:equivalentTo"} @@ -222153,12 +226814,13 @@ property_value: confidence "0.7283950617283947" xsd:double id: MONDO:0011259 name: retinitis pigmentosa 22 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." [DOID:0110400, PMID:9545639] -subset: gard_rare {source="GARD:0010393"} +subset: gard_rare {source="GARD:10393"} synonym: "retinitis pigmentosa 22" EXACT [MONDO:Lexical, OMIM:602594] synonym: "retinitis pigmentosa type 22" EXACT [DOID:0110400, MONDORULE:2] synonym: "RP 22" RELATED [GARD:0010393] synonym: "RP22" EXACT ABBREVIATION [DOID:0110400, MONDO:Lexical, OMIM:602594] xref: DOID:0110400 {source="MONDO:equivalentTo"} +xref: GARD:10393 {source="OMIM:602594"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110400"} xref: OMIM:602594 {source="MONDO:equivalentTo", source="DOID:0110400"} xref: Orphanet:791 {source="OMIM:602594"} @@ -222185,12 +226847,14 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0011261 name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:163649] +subset: gard_rare {source="GARD:16993"} subset: n_of_one {source="OMIM:602611"} subset: ordo_disease {source="Orphanet:163649"} synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [OMIM:602611] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT DEPRECATED [OMIM:602611] synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649] xref: DOID:0112294 {source="MONDO:equivalentTo"} +xref: GARD:16993 {source="Orphanet:163649"} xref: ICD10CM:Q77.7 {source="Orphanet:163649/attributed", source="Orphanet:163649/ntbt", source="Orphanet:163649"} xref: MESH:C566515 {source="MONDO:equivalentTo"} xref: OMIM:602611 {source="Orphanet:163649/e", source="MONDO:equivalentTo", source="Orphanet:163649"} @@ -222207,11 +226871,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011262 name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye def: "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." [Orphanet:1323] -subset: gard_rare +subset: gard_rare {source="GARD:216"} subset: ordo_malformation_syndrome synonym: "camptodactyly, joint contractures, facial skeletal defects" RELATED [GARD:0000216] synonym: "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" EXACT [GARD:0000216, OMIM:602612] synonym: "Rozin hertz Goodman syndrome" RELATED [GARD:0000216] +xref: GARD:216 {source="Orphanet:1323"} xref: ICD10CM:Q87.0 {source="Orphanet:1323"} xref: MESH:C535876 {source="MONDO:equivalentTo"} xref: OMIM:602612 {source="Orphanet:1323", source="MONDO:equivalentTo", source="GARD:0000216"} @@ -222238,6 +226903,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011264 name: torsion dystonia 6 def: "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." [Orphanet:98806] +subset: gard_rare {source="GARD:9630"} subset: ordo_disease {source="Orphanet:98806"} synonym: "adolescent-onset dystonia of mixed type" RELATED [GARD:0009630] synonym: "dystonia 6" RELATED [GARD:0009630] @@ -222256,6 +226922,7 @@ synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630] synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629] xref: DOID:0090039 {source="MONDO:equivalentTo"} +xref: GARD:9630 {source="Orphanet:98806"} xref: ICD10CM:G24.1 {source="Orphanet:98806", source="DOID:0090039", source="Orphanet:98806/attributed", source="Orphanet:98806/ntbt"} xref: MESH:C538003 {source="MONDO:equivalentTo"} xref: NCIT:C156361 {source="MONDO:equivalentTo"} @@ -222288,7 +226955,7 @@ id: MONDO:0011266 name: myotonic dystrophy type 2 def: "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." [Orphanet:606] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) -subset: gard_rare {source="GARD:0009728"} +subset: gard_rare {source="GARD:9728"} subset: ordo_disease {source="Orphanet:606"} synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602668] @@ -222304,6 +226971,7 @@ synonym: "proximal myotonic myopathy" EXACT [DOID:0050759] synonym: "ricker disease" EXACT [Orphanet:606] synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606] xref: DOID:0050759 {source="MONDO:equivalentTo"} +xref: GARD:9728 {source="Orphanet:606"} xref: ICD10CM:G71.1 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/attributed", source="Orphanet:606/ntbt"} xref: ICD10CM:G71.19 {source="DOID:0050759"} xref: ICD9:359.2 {source="DOID:0050759"} @@ -222348,6 +227016,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011268 name: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +subset: gard_rare {source="GARD:15350"} synonym: "classical distal renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "classical distal RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "distal renal tubular acidosis 3, with or without sensorineural hearing loss" EXACT [OMIM:602722, OMIM:genemap2] @@ -222361,6 +227030,7 @@ synonym: "RTA, distal, autosomal recessive" RELATED [OMIM:602722] synonym: "RTADR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602722] synonym: "type 1 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "type 1 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] +xref: GARD:15350 {source="OMIM:602722"} xref: OMIM:602722 {source="MONDO:equivalentTo"} xref: Orphanet:18 {source="OMIM:602722"} xref: Orphanet:402041 {source="OMIM:602722"} @@ -222394,11 +227064,13 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0011270 name: prostate cancer, hereditary, 8 +subset: gard_rare {source="GARD:15351"} synonym: "HPC8" RELATED ABBREVIATION [OMIM:602759] synonym: "predisposing for prostate cancer" RELATED [OMIM:602759] synonym: "prostate cancer, hereditary, 8" EXACT [OMIM:602759] synonym: "prostate cancer, hereditary, type 8" EXACT [MONDORULE:1, OMIM:602759] synonym: "prostate cancer, susceptibility to" RELATED [OMIM:602759, OMIM:genemap2] +xref: GARD:15351 {source="OMIM:602759"} xref: MESH:C566426 {source="MONDO:equivalentTo"} xref: OMIM:602759 {source="MONDO:equivalentTo"} xref: UMLS:C1864472 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602759"} @@ -222465,7 +227137,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011272 name: retinitis pigmentosa 25 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010384"} +subset: gard_rare {source="GARD:10384"} synonym: "EYS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 25" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:602772] synonym: "retinitis pigmentosa caused by mutation in EYS" EXACT [MONDO:design_pattern] @@ -222473,6 +227145,7 @@ synonym: "retinitis pigmentosa type 25" EXACT [DOID:0110384, MONDORULE:2, OMIM:6 synonym: "RP 25" RELATED [GARD:0010384] synonym: "RP25" EXACT ABBREVIATION [DOID:0110384, MONDO:Lexical, OMIM:602772] xref: DOID:0110384 {source="MONDO:equivalentTo"} +xref: GARD:10384 {source="OMIM:602772"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110384"} xref: MESH:C566425 {source="MONDO:equivalentTo"} xref: OMIM:602772 {source="MONDO:equivalentTo", source="DOID:0110384"} @@ -222491,7 +227164,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10384/retini id: MONDO:0011273 name: H syndrome def: "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." [https://orcid.org/0000-0001-5208-3432, Orphanet:168569] -subset: gard_rare +subset: gard_rare {source="GARD:10239"} subset: ordo_malformation_syndrome {source="Orphanet:168569"} synonym: "Asrar Facharzt Haque syndrome" EXACT [MONDO:0021937] synonym: "Faisalabad histiocytosis" RELATED [OMIM:602782] @@ -222506,6 +227179,7 @@ synonym: "Rosai-Dorfman disease, familial" RELATED [OMIM:602782] synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782] synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239] xref: DOID:0111278 {source="MONDO:equivalentTo"} +xref: GARD:10239 {source="Orphanet:168569"} xref: ICD10CM:D76.3 {source="Orphanet:168569", source="Orphanet:168569/attributed", source="Orphanet:168569/ntbt"} xref: MESH:C535391 {source="MONDO:equivalentTo"} xref: MESH:C538322 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -222530,7 +227204,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/581/asrar-fa id: MONDO:0011274 name: Muenke syndrome def: "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." [Orphanet:53271] -subset: gard_rare {source="GARD:0007097"} +subset: gard_rare {source="GARD:7097"} subset: ordo_malformation_syndrome {source="Orphanet:53271"} synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703] synonym: "MNKES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602849] @@ -222538,6 +227212,7 @@ synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [OMIM:602849] synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849] synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097] xref: DOID:0060703 {source="MONDO:equivalentTo"} +xref: GARD:7097 {source="Orphanet:53271"} xref: ICD10CM:Q87.0 {source="DOID:0060703", source="Orphanet:53271/attributed", source="Orphanet:53271/ntbt", source="Orphanet:53271"} xref: MESH:C537369 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: NCIT:C84904 {source="MONDO:equivalentTo"} @@ -222558,7 +227233,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7097/muenke- id: MONDO:0011275 name: acromesomelic dysplasia 1, Maroteaux type def: "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." [Orphanet:40] -subset: gard_rare {source="GARD:0000507"} +subset: gard_rare {source="GARD:507"} subset: ordo_malformation_syndrome {source="Orphanet:40"} synonym: "acromesomelic dwarfism Maroteux type" RELATED [GARD:0000507] synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [OMIM:602875, OMIM:genemap2] @@ -222567,6 +227242,7 @@ synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [MONDO:Lexical, OMIM:60 synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602875] synonym: "St. Helena dysplasia" RELATED [OMIM:602875] xref: DOID:0080050 {source="MONDO:equivalentTo"} +xref: GARD:507 {source="Orphanet:40"} xref: ICD10CM:Q77.8 {source="Orphanet:40/attributed", source="Orphanet:40/ntbt", source="Orphanet:40"} xref: MESH:C535661 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="Orphanet:40"} xref: OMIM:602875 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="DOID:0080050", source="Orphanet:40"} @@ -222618,12 +227294,14 @@ replaced_by: MONDO:0018805 id: MONDO:0011279 name: autosomal recessive nonsyndromic hearing loss 17 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." [DOID:0110472, PMID:15293785] +subset: gard_rare {source="GARD:22593"} synonym: "autosomal recessive deafness 17" NARROW [DOID:0110472] synonym: "autosomal recessive nonsyndromic deafness 17" NARROW [OMIM:603010] synonym: "autosomal recessive nonsyndromic deafness type 17" NARROW [DOID:0110472, MONDORULE:2] synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical, OMIM:603010, OMIM:genemap2] synonym: "DFNB17" NARROW ABBREVIATION [DOID:0110472, MONDO:Lexical, OMIM:603010] xref: DOID:0110472 {source="MONDO:equivalentTo"} +xref: GARD:22593 {source="OMIM:603010"} xref: ICD10CM:H90.3 {source="DOID:0110472"} xref: MESH:C566418 {source="MONDO:equivalentTo"} xref: OMIM:603010 {source="MONDO:equivalentTo", source="DOID:0110472"} @@ -222650,6 +227328,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011281 name: congenital myasthenic syndrome 5 def: "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." [NCIT:C129304] +subset: gard_rare {source="GARD:18210"} synonym: "CMS Ic" EXACT [DOID:0110667] synonym: "Cms Ic" RELATED [OMIM:603034] synonym: "Cms Ic, formerly" RELATED [OMIM:603034] @@ -222669,6 +227348,7 @@ synonym: "myasthenic syndrome, congenital, 5" RELATED [MONDO:Lexical, OMIM:60303 synonym: "myasthenic syndrome, congenital, Engel type" RELATED [OMIM:603034] synonym: "myasthenic syndrome, congenital, type 5" EXACT [MONDORULE:1, OMIM:603034] xref: DOID:0110667 {source="MONDO:equivalentTo"} +xref: GARD:18210 {source="OMIM:603034"} xref: MESH:C566415 {source="MONDO:equivalentTo"} xref: NCIT:C129304 {source="MONDO:equivalentTo"} xref: OMIM:603034 {source="DOID:0110667", source="MONDO:equivalentTo"} @@ -222762,12 +227442,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011286 name: autosomal recessive nonsyndromic hearing loss 13 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." [DOID:0110468, PMID:9781028] +subset: gard_rare {source="GARD:22594"} synonym: "autosomal recessive deafness 13" NARROW [DOID:0110468] synonym: "autosomal recessive nonsyndromic deafness 13" NARROW [OMIM:603098] synonym: "autosomal recessive nonsyndromic deafness type 13" NARROW [DOID:0110468, MONDORULE:2] synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical, OMIM:603098, OMIM:genemap2] synonym: "DFNB13" NARROW ABBREVIATION [DOID:0110468, MONDO:Lexical, OMIM:603098] xref: DOID:0110468 {source="MONDO:equivalentTo"} +xref: GARD:22594 {source="OMIM:603098"} xref: ICD10CM:H90.3 {source="DOID:0110468"} xref: MESH:C566410 {source="MONDO:equivalentTo"} xref: OMIM:603098 {source="DOID:0110468", source="MONDO:equivalentTo"} @@ -222780,11 +227462,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011287 name: craniosynostosis-anal anomalies-porokeratosis syndrome def: "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." [Orphanet:85199] +subset: gard_rare {source="GARD:9506"} subset: ordo_malformation_syndrome {source="Orphanet:85199"} synonym: "CAP syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506] synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116] +xref: GARD:9506 {source="Orphanet:85199"} xref: ICD10CM:Q87.8 {source="Orphanet:85199", source="Orphanet:85199/attributed", source="Orphanet:85199/ntbt"} xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} @@ -222826,6 +227510,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011291 name: ALG6-congenital disorder of glycosylation 1C def: "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." [Orphanet:79320] +subset: gard_rare {source="GARD:9829"} subset: ordo_disease {source="Orphanet:79320"} synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ALG6-CDG" RELATED [Orphanet:79320] @@ -222853,6 +227538,7 @@ synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320] synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147] synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320] xref: DOID:0080555 {source="MONDO:equivalentTo"} +xref: GARD:9829 {source="Orphanet:79320"} xref: ICD10CM:E77.8 {source="Orphanet:79320", source="Orphanet:79320/attributed", source="Orphanet:79320/ntbt"} xref: MESH:C535741 {source="MONDO:equivalentTo"} xref: NCIT:C126869 {source="MONDO:equivalentTo"} @@ -222924,7 +227610,7 @@ is_a: MONDO:0005090 {source="DC-OMIM:603176", source="DOID:0070083"} ! schizophr id: MONDO:0011296 name: Meckel syndrome, type 2 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0008743"} +subset: gard_rare {source="GARD:8743"} synonym: "Meckel syndrome 2" RELATED [DOID:0070116] synonym: "Meckel syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 2" RELATED [GARD:0008743] @@ -222933,6 +227619,7 @@ synonym: "Meckel-Gruber syndrome, type 2" EXACT [DOID:0070116, OMIM:603194] synonym: "MKS2" EXACT ABBREVIATION [DOID:0070116, MONDO:Lexical, OMIM:603194] synonym: "TMEM216 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070116 {source="MONDO:equivalentTo"} +xref: GARD:8743 {source="OMIM:603194"} xref: ICD10CM:Q61.9 {source="DOID:0070116"} xref: MESH:C536131 {source="MONDO:equivalentTo"} xref: OMIM:603194 {source="MONDO:equivalentTo", source="DOID:0070116"} @@ -222951,12 +227638,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8743/meckel- id: MONDO:0011297 name: autosomal dominant nocturnal frontal lobe epilepsy 2 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24." [DOID:0060683, PMID:9758605] +subset: gard_rare {source="GARD:15352"} synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 2" EXACT [DOID:0060683, MONDORULE:1] synonym: "ENFL2" EXACT ABBREVIATION [DOID:0060683, MONDO:Lexical, OMIM:603204] synonym: "epilepsy, nocturnal frontal lobe, 2" RELATED [MONDO:Lexical, OMIM:603204] synonym: "epilepsy, nocturnal frontal lobe, type 2" EXACT [OMIM:603204, OMIM:genemap2] synonym: "nocturnal frontal lobe epilepsy 2" EXACT [DOID:0060683] xref: DOID:0060683 {source="MONDO:equivalentTo"} +xref: GARD:15352 {source="OMIM:603204"} xref: MESH:C566400 {source="MONDO:equivalentTo"} xref: OMIM:603204 {source="DOID:0060683", source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="OMIM:603204"} @@ -222983,6 +227672,7 @@ is_a: MONDO:0005090 {source="DC-OMIM:603206", source="DOID:0070084"} ! schizophr id: MONDO:0011299 name: Huntington disease-like 1 def: "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16985"} subset: ordo_disease {source="Orphanet:157941"} synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [DOID:0090103] synonym: "early-onset prion disease with prominent psychiatric features" EXACT [DOID:0090103, Orphanet:157941] @@ -222997,6 +227687,7 @@ synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXAC synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218] synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090103 {source="MONDO:equivalentTo"} +xref: GARD:16985 {source="Orphanet:157941"} xref: ICD10CM:G10 {source="Orphanet:157941/attributed", source="Orphanet:157941/ntbt", source="Orphanet:157941", source="DOID:0090103"} xref: MESH:C566398 {source="MONDO:equivalentTo"} xref: OMIM:603218 {source="Orphanet:157941", source="MONDO:equivalentTo", source="DOID:0090103", source="Orphanet:157941/e"} @@ -223029,7 +227720,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011301 name: pseudohypoparathyroidism type 1B def: "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." [Orphanet:94089] -subset: gard_rare {source="GARD:0010680"} +subset: gard_rare {source="GARD:10680"} subset: ordo_disease {source="Orphanet:94089"} synonym: "Php 1B" RELATED [OMIM:603233] synonym: "PHP1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603233] @@ -223038,6 +227729,7 @@ synonym: "pseudohypoparathyroidism type IB" RELATED [DOID:0080222] synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233] synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233] xref: DOID:0080222 {source="MONDO:equivalentTo"} +xref: GARD:10680 {source="Orphanet:94089"} xref: ICD10CM:E20.1 {source="Orphanet:94089/attributed", source="Orphanet:94089/ntbt", source="Orphanet:94089"} xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="Orphanet:94089/e"} @@ -223071,6 +227763,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011303 name: focal segmental glomerulosclerosis 1 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15353"} subset: ordo_histopathological_subtype {source="Orphanet:93213"} synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213] @@ -223081,6 +227774,7 @@ synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDOR synonym: "FSGS1" EXACT ABBREVIATION [DOID:0111128, MONDO:Lexical, OMIM:603278] synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278] xref: DOID:0111128 {source="MONDO:equivalentTo"} +xref: GARD:15353 {source="OMIM:603278"} xref: ICD10CM:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="Orphanet:93213/attributed", source="Orphanet:93213/ntbt"} xref: MESH:C538457 {source="MONDO:equivalentTo"} xref: OMIM:603278 {source="DOID:0111128", source="MONDO:equivalentTo", source="Orphanet:93213"} @@ -223098,6 +227792,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0011304 name: cerebral cavernous malformation 2 def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18313"} synonym: "CCM2" EXACT ABBREVIATION [DOID:0060670, MONDO:Lexical, OMIM:603284] synonym: "CCM2 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cerebral cavernous malformation 2" EXACT CLINGEN_PREFERRED [] @@ -223107,6 +227802,7 @@ synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1, OMIM:6032 synonym: "cerebral cavernous malformations-2" EXACT [OMIM:603284, OMIM:genemap2] synonym: "familial cerebral cavernous malformation caused by mutation in CCM2" EXACT [MONDO:design_pattern] xref: DOID:0060670 {source="MONDO:equivalentTo"} +xref: GARD:18313 {source="OMIM:603284"} xref: ICD10CM:Q28.3 {source="DOID:0060670"} xref: MESH:C566394 {source="MONDO:equivalentTo"} xref: OMIM:603284 {source="DOID:0060670", source="MONDO:equivalentTo"} @@ -223123,6 +227819,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011305 name: cerebral cavernous malformation 3 def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18314"} synonym: "CCM3" EXACT ABBREVIATION [DOID:0060671, MONDO:Lexical, OMIM:603285] synonym: "cerebral cavernous malformation 3" EXACT CLINGEN_PREFERRED [] synonym: "cerebral cavernous malformation type 3" EXACT [DOID:0060671, MONDORULE:1] @@ -223132,6 +227829,7 @@ synonym: "cerebral cavernous malformations-3" EXACT [OMIM:603285, OMIM:genemap2] synonym: "familial cerebral cavernous malformation caused by mutation in PDCD10" EXACT [MONDO:design_pattern] synonym: "PDCD10 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060671 {source="MONDO:equivalentTo"} +xref: GARD:18314 {source="OMIM:603285"} xref: ICD10CM:Q28.3 {source="DOID:0060671"} xref: MESH:C566393 {source="MONDO:equivalentTo"} xref: OMIM:603285 {source="MONDO:equivalentTo"} @@ -223170,7 +227868,7 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0011308 name: GRACILE syndrome def: "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." [Orphanet:53693] -subset: gard_rare +subset: gard_rare {source="GARD:1"} subset: ordo_disease {source="Orphanet:53693"} synonym: "Fellman disease" EXACT [Orphanet:53693] synonym: "Fellman syndrome" RELATED [GARD:0000001, OMIM:603358] @@ -223184,6 +227882,7 @@ synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death" RELATED [GARD:0000001] synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358] xref: DOID:0111455 {source="MONDO:equivalentTo"} +xref: GARD:1 {source="Orphanet:53693"} xref: ICD10CM:E88.8 {source="Orphanet:53693/attributed", source="Orphanet:53693/ntbt", source="Orphanet:53693"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537934 {source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} @@ -223198,9 +227897,11 @@ property_value: confidence "4.277777777777778" xsd:double [Term] id: MONDO:0011309 name: familial gestational hyperthyroidism +subset: gard_rare {source="GARD:16913"} subset: ordo_disease {source="Orphanet:99819"} synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373] xref: DOID:0081102 {source="MONDO:equivalentTo"} +xref: GARD:16913 {source="Orphanet:99819"} xref: ICD10CM:E05.8 {source="Orphanet:99819/attributed", source="Orphanet:99819/ntbt", source="Orphanet:99819"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:648.10 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -223240,13 +227941,14 @@ is_obsolete: true [Term] id: MONDO:0011312 name: thyroid carcinoma, nonmedullary, with or without cell oxyphilia -subset: gard_rare {source="GARD:0008488"} +subset: gard_rare {source="GARD:15354"} synonym: "nonmedullary thyroid carcinoma, with or without cell oxyphilia" RELATED [GARD:0008488] synonym: "TCO" RELATED ABBREVIATION [OMIM:603386] synonym: "TCO 1" RELATED [GARD:0008488] synonym: "TCO1" RELATED ABBREVIATION [OMIM:603386] synonym: "thyroid carcinoma, nonmedullary, with cell oxyphilia" EXACT [OMIM:603386, OMIM:genemap2] synonym: "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" EXACT [OMIM:603386] +xref: GARD:15354 {source="OMIM:603386"} xref: MESH:C537842 {source="MONDO:equivalentTo"} xref: OMIM:603386 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="OMIM:603386"} @@ -223260,6 +227962,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8488/nonmedu id: MONDO:0011313 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18077"} synonym: "Meg-PMG-Megacc syndrome" RELATED [OMIM:603387] synonym: "megalencephaly, mega corpus callosum, and complete lack of motor development" RELATED [OMIM:603387] synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED [OMIM:603387] @@ -223268,6 +227971,7 @@ synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" EXACT [MONDO:design_pattern] synonym: "MPPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603387] synonym: "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18077 {source="OMIM:603387"} xref: MESH:C566381 {source="MONDO:equivalentTo"} xref: OMIM:603387 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="OMIM:603387"} @@ -223322,7 +228026,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011318 name: Tonoki syndrome -subset: gard_rare {source="GARD:0010219"} synonym: "short stature, brachydactyly, nail dysplasia and intellectual disability" RELATED [GARD:0010219] synonym: "short stature, brachydactyly, nail dysplasia and mental retardation" RELATED DEPRECATED [GARD:0010219] synonym: "Tonoki syndrome" EXACT [OMIM:603396] @@ -223353,6 +228056,7 @@ is_obsolete: true id: MONDO:0011320 name: radioulnar synostosis-microcephaly-scoliosis syndrome def: "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:3268] +subset: gard_rare {source="GARD:394"} subset: ordo_malformation_syndrome {source="Orphanet:3268"} synonym: "Giuffre-Tsukahara syndrome" EXACT [OMIM:603438, Orphanet:3268] synonym: "Giuffré-Tsukahara syndrome" EXACT [Orphanet:3268] @@ -223361,6 +228065,7 @@ synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and synonym: "Tsukahara syndrome" EXACT [Orphanet:3268] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability" RELATED [GARD:0000394] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED DEPRECATED [GARD:0000394] +xref: GARD:394 {source="Orphanet:3268"} xref: OMIM:603438 {source="Orphanet:3268", source="MONDO:equivalentTo", source="Orphanet:3268/e"} xref: Orphanet:3268 {source="MONDO:equivalentTo", source="OMIM:603438"} xref: UMLS:C1863881 {source="Orphanet:3268", source="MONDO:equivalentTo", source="OMIM:603438", source="MONDO:ncbi_mim2gene_medline"} @@ -223414,6 +228119,7 @@ replaced_by: MONDO:0008885 id: MONDO:0011325 name: Fanconi anemia complementation group F def: "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." [NCIT:C125707] +subset: gard_rare {source="GARD:15355"} synonym: "FANCF" EXACT ABBREVIATION [DOID:0111088, MONDO:Lexical, OMIM:603467] synonym: "Fanconi anaemia complementation group type F" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group F" EXACT CLINGEN_PREFERRED [] @@ -223422,6 +228128,7 @@ synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical, OMIM: synonym: "Fanconi Anemia, complementation group type F" EXACT [MONDORULE:1, OMIM:603467] xref: DOID:0111088 {source="MONDO:equivalentTo"} xref: EFO:0009045 {source="MONDO:equivalentTo"} +xref: GARD:15355 {source="OMIM:603467"} xref: NCIT:C125707 {source="MONDO:equivalentTo"} xref: OMIM:603467 {source="MONDO:equivalentTo", source="DOID:0111088"} xref: UMLS:C1414532 {source="OMIM:603467", source="MONDO:notFoundInDiseaseSubset"} @@ -223435,7 +228142,6 @@ id: MONDO:0011326 name: citrullinemia, type II, adult-onset def: "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." [GARD:0010215] comment: TODO - merge into parent -subset: gard_rare synonym: "adult-onset citrullinemia type 2" RELATED [GARD:0010215] synonym: "adult-onset citrullinemia type II" RELATED [GARD:0010215] synonym: "citrin deficiency" RELATED [GARD:0010215, OMIM:603471] @@ -223459,12 +228165,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10215/adult- id: MONDO:0011327 name: neuronal intranuclear inclusion disease def: "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." [Orphanet:2289] -subset: gard_rare {source="GARD:0003971"} +subset: gard_rare {source="GARD:3971"} subset: ordo_disease {source="Orphanet:2289"} synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971] synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472] synonym: "Niid" RELATED [OMIM:603472] xref: DOID:0081294 {source="MONDO:equivalentTo"} +xref: GARD:3971 {source="Orphanet:2289"} xref: ICD10CM:G31.0 {source="Orphanet:2289", source="Orphanet:2289/attributed", source="Orphanet:2289/ntbt"} xref: MESH:C537395 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: NCIT:C122655 {source="MONDO:equivalentTo"} @@ -223498,11 +228205,13 @@ replaced_by: MONDO:0033613 id: MONDO:0011330 name: spinocerebellar ataxia type 10 def: "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." [Orphanet:98761] +subset: gard_rare {source="GARD:10474"} subset: ordo_disease {source="Orphanet:98761"} synonym: "SCA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603516, Orphanet:98761] synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516] synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516] xref: DOID:0050960 {source="MONDO:equivalentTo"} +xref: GARD:10474 {source="Orphanet:98761"} xref: ICD10CM:G11.2 {source="Orphanet:98761/attributed", source="Orphanet:98761/ntbt", source="Orphanet:98761"} xref: MESH:C566874 {source="MONDO:equivalentTo"} xref: OMIM:603516 {source="DOID:0050960", source="Orphanet:98761/e", source="MONDO:equivalentTo", source="Orphanet:98761"} @@ -223518,11 +228227,12 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0011331 name: congenital chylothorax def: "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." [Orphanet:264688] -subset: gard_rare {source="GARD:0010156"} +subset: gard_rare {source="GARD:10156"} subset: ordo_disease {source="Orphanet:264688"} synonym: "chylothorax, congenital" RELATED [OMIM:603523] synonym: "hydrothorax, congenital" RELATED [OMIM:603523] xref: DOID:0060646 {source="MONDO:equivalentTo"} +xref: GARD:10156 {source="Orphanet:264688"} xref: ICD10CM:I89.8 {source="Orphanet:264688", source="Orphanet:264688/ntbt"} xref: ICD9:511.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535461 {source="MONDO:equivalentTo"} @@ -223561,10 +228271,12 @@ id: MONDO:0011334 name: limb-mammary syndrome def: "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." [Orphanet:69085] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:10051"} subset: ordo_malformation_syndrome {source="Orphanet:69085"} synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543] synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051] +xref: GARD:10051 {source="Orphanet:69085"} xref: MESH:C535903 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: OMIM:603543 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"} @@ -223585,7 +228297,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011335 name: spondyloepimetaphyseal dysplasia with multiple dislocations def: "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." [NCIT:C125419] -subset: gard_rare {source="GARD:0009866"} +subset: gard_rare {source="GARD:9866"} subset: ordo_disease {source="Orphanet:93360"} synonym: "SEMD-MD" EXACT [DOID:0112199, Orphanet:93360] synonym: "SEMDJL2" EXACT ABBREVIATION [DOID:0112199, MONDO:Lexical, OMIM:603546, Orphanet:93360] @@ -223601,6 +228313,7 @@ synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" RELATED [GARD:0009866] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360] xref: DOID:0112199 {source="MONDO:equivalentTo"} +xref: GARD:9866 {source="Orphanet:93360"} xref: ICD10CM:Q77.7 {source="Orphanet:93360/attributed", source="Orphanet:93360/ntbt", source="Orphanet:93360"} xref: MESH:C535784 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="Orphanet:93360"} xref: NCIT:C125419 {source="MONDO:equivalentTo"} @@ -223619,7 +228332,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9866/spondyl id: MONDO:0011336 name: familial hemophagocytic lymphohistiocytosis 4 def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009929"} +subset: gard_rare {source="GARD:9929"} synonym: "familial hemophagocytic lymphohistiocytosis 4" EXACT CLINGEN_PREFERRED [] synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [DOID:0110924, MONDORULE:1] synonym: "FHL4" EXACT ABBREVIATION [DOID:0110924, MONDO:Lexical, OMIM:603552] @@ -223632,6 +228345,7 @@ synonym: "HPLH4" EXACT ABBREVIATION [DOID:0110924] synonym: "Hplh4" RELATED [OMIM:603552] synonym: "STX11 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110924 {source="MONDO:equivalentTo"} +xref: GARD:9929 {source="OMIM:603552"} xref: MESH:C537252 {source="MONDO:equivalentTo"} xref: OMIM:603552 {source="MONDO:equivalentTo", source="DOID:0110924"} xref: Orphanet:540 {source="OMIM:603552", source="MONDO:directSiblingOf"} @@ -223646,7 +228360,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9929/hemopha id: MONDO:0011337 name: familial hemophagocytic lymphohistiocytosis 2 def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009922"} +subset: gard_rare {source="GARD:9922"} synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [DOID:0110922, MONDORULE:1] synonym: "FHL2" EXACT ABBREVIATION [DOID:0110922, MONDO:Lexical, OMIM:603553] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1" EXACT [MONDO:design_pattern] @@ -223658,6 +228372,7 @@ synonym: "HPLH2" EXACT ABBREVIATION [DOID:0110922] synonym: "Hplh2" RELATED [OMIM:603553] synonym: "PRF1 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110922 {source="MONDO:equivalentTo"} +xref: GARD:9922 {source="OMIM:603553"} xref: MESH:C537250 {source="MONDO:equivalentTo"} xref: OMIM:603553 {source="DOID:0110922", source="MONDO:equivalentTo"} xref: Orphanet:540 {source="OMIM:603553", source="MONDO:directSiblingOf"} @@ -223672,7 +228387,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9922/hemopha id: MONDO:0011338 name: Omenn syndrome def: "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." [Orphanet:39041] -subset: gard_rare {source="GARD:0008198"} +subset: gard_rare {source="GARD:8198"} subset: ordo_disease {source="Orphanet:39041"} synonym: "combined immunodeficiency with hypereosinophilia" EXACT [DOID:0060010, Orphanet:39041] synonym: "Omenn syndrome" EXACT CLINGEN_PREFERRED [OMIM:603554] @@ -223680,6 +228395,7 @@ synonym: "reticuloendotheliosis familial with eosinophilia" RELATED [GARD:000819 synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:603554] synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554] xref: DOID:0060010 {source="MONDO:equivalentTo"} +xref: GARD:8198 {source="Orphanet:39041"} xref: ICD10CM:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="Orphanet:39041/attributed", source="Orphanet:39041/ntbt"} xref: MedDRA:10069097 {source="Orphanet:39041", source="Orphanet:39041/e"} xref: NCIT:C61240 {source="MONDO:equivalentTo"} @@ -223700,6 +228416,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8198/omenn-s id: MONDO:0011339 name: hereditary spastic paraplegia 8 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9591"} subset: ordo_disease {source="Orphanet:100989"} synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823] @@ -223710,6 +228427,7 @@ synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM synonym: "SPG8" EXACT ABBREVIATION [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989] synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110823 {source="MONDO:equivalentTo"} +xref: GARD:9591 {source="Orphanet:100989"} xref: ICD10CM:G11.4 {source="DOID:0110823", source="Orphanet:100989", source="Orphanet:100989/attributed", source="Orphanet:100989/ntbt"} xref: MESH:C536867 {source="Orphanet:100989/e", source="Orphanet:100989"} xref: MESH:C580458 {source="MONDO:equivalentTo"} @@ -223727,9 +228445,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011340 name: congenital tracheal stenosis -subset: gard_rare {source="GARD:0012008"} +subset: gard_rare {source="GARD:12008"} subset: ordo_morphological_anomaly {source="Orphanet:141127"} synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569] +xref: GARD:12008 {source="Orphanet:141127"} xref: ICD10CM:Q32.1 {source="Orphanet:141127/inclusion", source="Orphanet:141127/ntbt", source="Orphanet:141127"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566362 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1839"} @@ -223758,6 +228477,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011342 name: SLC35A1-congenital disorder of glycosylation def: "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." [Orphanet:238459] +subset: gard_rare {source="GARD:12409"} subset: ordo_disease {source="Orphanet:238459"} synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [Orphanet:238459] synonym: "CDG IIf" RELATED [OMIM:603585] @@ -223772,6 +228492,7 @@ synonym: "SLC35A1-CDG" EXACT ABBREVIATION [Orphanet:356961] synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409] synonym: "SLC35A1-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070258 {source="MONDO:equivalentTo"} +xref: GARD:12409 {source="Orphanet:238459"} xref: ICD10CM:E77.8 {source="Orphanet:238459", source="Orphanet:238459/attributed", source="Orphanet:238459/ntbt"} xref: MESH:C567040 {source="MONDO:equivalentTo"} xref: OMIM:603585 {source="Orphanet:238459", source="MONDO:equivalentTo", source="Orphanet:238459/e"} @@ -223817,7 +228538,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011346 name: xanthinuria type II def: "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." [Orphanet:93602] -subset: gard_rare {source="GARD:0005620"} +subset: gard_rare {source="GARD:5620"} subset: ordo_etiological_subtype {source="Orphanet:93602"} synonym: "type 2 xanthinuria" RELATED [GARD:0005620] synonym: "type II xanthinuria" RELATED [GARD:0005620] @@ -223829,6 +228550,7 @@ synonym: "xanthinuria type 2" RELATED [GARD:0005620] synonym: "xanthinuria, type 2" RELATED [OMIM:603592] synonym: "xanthinuria, type II" RELATED [OMIM:603592] synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602] +xref: GARD:5620 {source="Orphanet:93602"} xref: ICD10CM:E79.8 {source="Orphanet:93602/attributed", source="Orphanet:93602/ntbt", source="Orphanet:93602"} xref: MESH:C566358 {source="MONDO:equivalentTo"} xref: OMIM:603592 {source="Orphanet:93602/e", source="MONDO:equivalentTo", source="Orphanet:93602"} @@ -223856,6 +228578,7 @@ name: non-syndromic polydactyly def: "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." [MESH:D017689] comment: Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy subset: disease_grouping +subset: gard_rare {source="GARD:4410"} subset: ordo_group_of_disorders {source="Orphanet:2913"} synonym: "Extra digits" RELATED [GARD:0004410] synonym: "isolated polydactyly" RELATED [https://orcid.org/0000-0002-6601-2165] @@ -223864,6 +228587,7 @@ synonym: "nonsyndromic polydactyly" EXACT [https://orcid.org/0000-0002-6601-2165 synonym: "nonsyndromic polydactyly (disease)" EXACT [MONDO:patterns/isolated] synonym: "polydactylia" RELATED [GARD:0004410] synonym: "supernumerary digits" RELATED [GARD:0004410] +xref: GARD:4410 {source="Orphanet:2913"} xref: ICD10CM:Q69.0 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} xref: ICD10CM:Q69.1 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} xref: ICD10CM:Q69.2 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} @@ -223890,6 +228614,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011350 name: autosomal dominant nonsyndromic hearing loss 17 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9726"} synonym: "autosomal dominant deafness 17" NARROW [DOID:0110548] synonym: "autosomal dominant nonsyndromic deafness 17" NARROW [OMIM:603622] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" NARROW [MONDO:design_pattern] @@ -223903,6 +228628,7 @@ synonym: "late-onset progressive hereditary hearing impairment due to cochleosac synonym: "MYH9 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nonsyndromic hereditary deafness DFNA17" NARROW [GARD:0009726] xref: DOID:0110548 {source="MONDO:equivalentTo"} +xref: GARD:9726 {source="OMIM:603622"} xref: ICD10CM:H90.3 {source="DOID:0110548"} xref: OMIM:603622 {source="DOID:0110548", source="MONDO:equivalentTo"} xref: UMLS:C1863659 {source="OMIM:603622", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -223918,6 +228644,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011351 name: autosomal recessive nonsyndromic hearing loss 21 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22595"} synonym: "autosomal recessive deafness 21" NARROW [DOID:0110479] synonym: "autosomal recessive nonsyndromic deafness 21" NARROW CLINGEN_PREFERRED [OMIM:603629] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" NARROW [] @@ -223929,6 +228656,7 @@ synonym: "DFNB21" NARROW ABBREVIATION [DOID:0110479, MONDO:Lexical, OMIM:603629] synonym: "TECTA autosomal recessive nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene] synonym: "tecta autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern] xref: DOID:0110479 {source="MONDO:equivalentTo"} +xref: GARD:22595 {source="OMIM:603629"} xref: ICD10CM:H90.3 {source="DOID:0110479"} xref: MESH:C566353 {source="MONDO:equivalentTo"} xref: OMIM:603629 {source="DOID:0110479", source="MONDO:equivalentTo"} @@ -223962,7 +228690,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011354 name: situs inversus totalis with cystic dysplasia of kidneys and pancreas -subset: gard_rare {source="GARD:0008567"} synonym: "situs inversus totalis with cystic dysplasia of kidneys and pancreas" EXACT [OMIM:603643] synonym: "situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios" RELATED [GARD:0008567] xref: MESH:C536666 {source="MONDO:equivalentTo"} @@ -223975,12 +228702,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8567/situs-i id: MONDO:0011355 name: cone-rod dystrophy 7 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15356"} synonym: "cone-rod dystrophy 7" EXACT [MONDO:Lexical, OMIM:603649] synonym: "cone-rod dystrophy caused by mutation in RIMS1" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 7" EXACT [DOID:0111012, MONDORULE:1, OMIM:603649] synonym: "CORD7" EXACT ABBREVIATION [DOID:0111012, MONDO:Lexical, OMIM:603649] synonym: "RIMS1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111012 {source="MONDO:equivalentTo"} +xref: GARD:15356 {source="OMIM:603649"} xref: MESH:C566350 {source="MONDO:equivalentTo"} xref: OMIM:603649 {source="MONDO:equivalentTo", source="DOID:0111012"} xref: Orphanet:1872 {source="OMIM:603649"} @@ -223993,7 +228722,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011356 name: exostosis, Dupuytren subungual -subset: gard_rare {source="GARD:0008280"} synonym: "Dupuytren subungual exostosis" RELATED [GARD:0008280] synonym: "exostosis, Dupuytren subungual" EXACT [OMIM:603656] synonym: "subungual exostoses" RELATED [GARD:0008280] @@ -224028,7 +228756,7 @@ relationship: disease_has_feature MONDO:0006680 ! blue nevus id: MONDO:0011359 name: acromelic frontonasal dysostosis def: "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." [Orphanet:1827] -subset: gard_rare +subset: gard_rare {source="GARD:5539"} subset: ordo_malformation_syndrome {source="Orphanet:1827"} synonym: "acromelic frontonasal dysostosis" EXACT [MONDO:Lexical, OMIM:603671, Orphanet:1827] synonym: "acromelic frontonasal dysplasia" RELATED [Orphanet:1827] @@ -224036,6 +228764,7 @@ synonym: "AFND" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603671, Orphanet:1827] synonym: "frontonasal dysplasia acromelic" RELATED [GARD:0002393] synonym: "Toriello syndrome" EXACT [Orphanet:1827] xref: DOID:0060342 {source="MONDO:equivalentTo"} +xref: GARD:5539 {source="Orphanet:1827"} xref: ICD10CM:Q75.8 {source="Orphanet:1827/attributed", source="Orphanet:1827/ntbt", source="Orphanet:1827"} xref: MESH:C535657 {source="Orphanet:1827/e", source="Orphanet:1827"} xref: MESH:C566345 {source="MONDO:equivalentTo"} @@ -224055,12 +228784,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2393/fronton id: MONDO:0011360 name: autosomal recessive nonsyndromic hearing loss 14 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." [DOID:0110469, PMID:9887371] +subset: gard_rare {source="GARD:22596"} synonym: "autosomal recessive deafness 14" NARROW [DOID:0110469] synonym: "autosomal recessive nonsyndromic deafness 14" NARROW [OMIM:603678] synonym: "autosomal recessive nonsyndromic deafness type 14" NARROW [DOID:0110469, MONDORULE:2] synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical, OMIM:603678, OMIM:genemap2] synonym: "DFNB14" NARROW ABBREVIATION [DOID:0110469, MONDO:Lexical, OMIM:603678] xref: DOID:0110469 {source="MONDO:equivalentTo"} +xref: GARD:22596 {source="OMIM:603678"} xref: ICD10CM:H90.3 {source="DOID:0110469"} xref: MESH:C566344 {source="MONDO:equivalentTo"} xref: OMIM:603678 {source="DOID:0110469", source="MONDO:equivalentTo"} @@ -224072,11 +228803,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011361 name: prostate cancer/brain cancer susceptibility +subset: gard_rare {source="GARD:15357"} subset: predisposition synonym: "Capb" RELATED [OMIM:603688] synonym: "Pcbc" RELATED [OMIM:603688] synonym: "prostate cancer/brain cancer susceptibility" EXACT [OMIM:603688] synonym: "prostate cancer/brain cancer susceptibility, somatic" EXACT [OMIM:603688, OMIM:genemap2] +xref: GARD:15357 {source="OMIM:603688"} xref: OMIM:603688 {source="MONDO:equivalentTo"} xref: UMLS:C1863600 {source="OMIM:603688", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020573 {source="OMIM:603688", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility @@ -224091,7 +228824,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011362 name: myopathy, myofibrillar, 9, with early respiratory failure -subset: gard_rare {source="GARD:0012591"} +subset: gard_rare {source="GARD:12591"} subset: ordo_disease {source="Orphanet:178464"} synonym: "ADMERF" EXACT ABBREVIATION [Orphanet:178464] synonym: "distal myopathy with early respiratory muscle involvement" EXACT [MONDO:0011859] @@ -224106,6 +228839,7 @@ synonym: "myofibrillar myopathy with early respiratory failure" EXACT [Orphanet: synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" EXACT [OMIM:607569] synonym: "myopathy, proximal, with early respiratory muscle involvement" EXACT [OMIM:603689] xref: DOID:0111188 {source="MONDO:equivalentTo"} +xref: GARD:12591 {source="Orphanet:178464"} xref: ICD10CM:G71.0 {source="Orphanet:178464/attributed", source="Orphanet:178464/ntbt", source="Orphanet:178464", source="Orphanet:34521/attributed", source="Orphanet:34521/ntbt", source="Orphanet:34521"} xref: MESH:C564377 {source="MONDO:equivalentTo"} xref: MESH:C566343 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -224146,6 +228880,7 @@ id: MONDO:0011364 name: autosomal recessive nonsyndromic hearing loss 16 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22597"} synonym: "autosomal recessive deafness 16" NARROW [DOID:0110471] synonym: "autosomal recessive nonsyndromic deafness 16" NARROW CLINGEN_PREFERRED [OMIM:603720] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" NARROW [MONDO:design_pattern] @@ -224155,6 +228890,7 @@ synonym: "deafness, autosomal recessive type 16" NARROW [MONDORULE:2, OMIM:60372 synonym: "DFNB16" NARROW ABBREVIATION [DOID:0110471, MONDO:Lexical, OMIM:603720] synonym: "STRC autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110471 {source="MONDO:equivalentTo"} +xref: GARD:22597 {source="OMIM:603720"} xref: ICD10CM:H90.3 {source="DOID:0110471"} xref: MESH:C566339 {source="MONDO:equivalentTo"} xref: OMIM:603720 {source="MONDO:equivalentTo", source="DOID:0110471"} @@ -224170,6 +228906,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011365 name: blepharophimosis - intellectual disability syndrome, SBBYS type def: "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." [Orphanet:3047] +subset: gard_rare {source="GARD:16618"} subset: ordo_malformation_syndrome {source="Orphanet:3047"} synonym: "blepharophimosis - intellectual disability syndrome, SBBYS type" EXACT CLINGEN_PREFERRED [] synonym: "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:3047] @@ -224179,6 +228916,7 @@ synonym: "SBBYSS" EXACT ABBREVIATION [DOID:0060290, MONDO:Lexical, OMIM:603736, synonym: "SBBYSS syndrome" EXACT [OMIM:603736, OMIM:genemap2] synonym: "Young-Simpson syndrome" RELATED [OMIM:603736] xref: DOID:0060290 {source="MONDO:equivalentTo"} +xref: GARD:16618 {source="Orphanet:3047"} xref: ICD10CM:Q87.8 {source="Orphanet:3047/attributed", source="Orphanet:3047/ntbt", source="Orphanet:3047"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536717 {source="MONDO:equivalentTo", source="DOID:0060290"} @@ -224230,7 +228968,6 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0011367 name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia def: "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." [https://orcid.org/0000-0001-5208-3432, PMID:22440536] -subset: gard_rare {source="GARD:0010076"} synonym: "acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia" RELATED [GARD:0010076] synonym: "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" EXACT [OMIM:603740] xref: MESH:C538181 {source="MONDO:equivalentTo"} @@ -224243,11 +228980,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10076/acrody id: MONDO:0011368 name: papillary thyroid Microcarcinoma def: "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." [NCIT:P378] +subset: gard_rare {source="GARD:15358"} synonym: "papillary Microcarcinoma of the thyroid" EXACT [NCIT:C46004] synonym: "papillary Microcarcinoma of the thyroid gland" EXACT [NCIT:C46004] synonym: "papillary thyroid gland Microcarcinoma" EXACT [NCIT:C46004] synonym: "papillary thyroid Microcarcinoma" EXACT [OMIM:603744] synonym: "thyroid gland papillary Microcarcinoma" EXACT [NCIT:C46004] +xref: GARD:15358 {source="OMIM:603744"} xref: ICDO:8341/3 {source="NCIT:C46004"} xref: MESH:C563277 {source="MONDO:equivalentTo"} xref: NCIT:C46004 {source="MONDO:equivalentTo"} @@ -224287,11 +229026,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011370 name: Stargardt disease 4 def: "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15359"} synonym: "PROM1 Stargardt disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Stargardt disease 4" EXACT [MONDO:Lexical, OMIM:603786] synonym: "Stargardt disease caused by mutation in PROM1" EXACT [MONDO:design_pattern] synonym: "Stargardt disease type 4" EXACT [MONDORULE:1, OMIM:603786] synonym: "STGD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603786] +xref: GARD:15359 {source="OMIM:603786"} xref: MESH:C535521 {source="MONDO:equivalentTo"} xref: OMIM:603786 {source="MONDO:equivalentTo"} xref: Orphanet:827 {source="OMIM:603786"} @@ -224306,7 +229047,6 @@ property_value: confidence "0.13378684807256236" xsd:double id: MONDO:0011371 name: hydroa vacciniforme, familial def: "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare {source="GARD:0010079"} synonym: "familial hydroa vacciniforme" RELATED [GARD:0010079] synonym: "hereditary hydroa vacciniforme" EXACT [MONDO:patterns/hereditary] synonym: "hydroa vacciniforme, familial" EXACT [OMIM:603794] @@ -224321,7 +229061,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10079/hydroa [Term] id: MONDO:0011372 name: microcephaly with simplified gyral pattern +subset: gard_rare {source="GARD:15360"} synonym: "microcephaly with simplified gyral pattern" EXACT [OMIM:603802] +xref: GARD:15360 {source="OMIM:603802"} xref: MESH:C566332 {source="MONDO:equivalentTo"} xref: OMIM:603802 {source="MONDO:equivalentTo"} xref: UMLS:C1863516 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603802"} @@ -224345,6 +229087,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011374 name: hypercholesterolemia, familial, 4 def: "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." [NCIT:C128114] +subset: gard_rare {source="GARD:18614"} synonym: "ARH" EXACT ABBREVIATION [DOID:0090105, MONDO:Lexical, OMIM:603813] synonym: "ARH1" NARROW ABBREVIATION [DOID:0090105] synonym: "ARH2" NARROW ABBREVIATION [DOID:0090105] @@ -224361,6 +229104,7 @@ synonym: "hypercholesterolemia, autosomal recessive, 1, formerly" RELATED [OMIM: synonym: "hypercholesterolemia, autosomal recessive, 2" RELATED [OMIM:603813] synonym: "hypercholesterolemia, autosomal recessive, 2, formerly" RELATED [OMIM:603813] xref: DOID:0090105 {source="MONDO:equivalentTo"} +xref: GARD:18614 {source="OMIM:603813"} xref: ICD10CM:E78.0 {source="DOID:0090105"} xref: MESH:C566331 {source="MONDO:equivalentTo"} xref: NCIT:C128114 {source="MONDO:equivalentTo"} @@ -224409,7 +229153,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011377 name: long QT syndrome 3 def: "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137959] -subset: gard_rare {source="GARD:0003286"} +subset: gard_rare {source="GARD:3286"} synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:603830] synonym: "long QT syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:603830] synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830] @@ -224419,6 +229163,7 @@ synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830 synonym: "LQT3" EXACT ABBREVIATION [DOID:0110646, MONDO:Lexical, OMIM:603830] synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110646 {source="MONDO:equivalentTo"} +xref: GARD:3286 {source="OMIM:603830"} xref: ICD10CM:I45.8 {source="DOID:0110646"} xref: MESH:C565840 {source="MONDO:equivalentTo"} xref: NCIT:C137959 {source="MONDO:equivalentTo"} @@ -224462,6 +229207,7 @@ replaced_by: MONDO:0008073 [Term] id: MONDO:0011380 name: obsolete leukoencephalopathy with vanishing white matter +xref: GARD:231 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI is_obsolete: true @@ -224471,12 +229217,14 @@ replaced_by: MONDO:0800448 id: MONDO:0011381 name: dominant beta-thalassemia def: "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." [Orphanet:231226] +subset: gard_rare {source="GARD:17164"} subset: ordo_clinical_subtype {source="Orphanet:231226"} synonym: "beta-thalassemia, dominant inclusion body type" RELATED [OMIM:603902] synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902] synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226] synonym: "thalassemia-beta, dominant inclusion-body" EXACT [OMIM:603902] xref: DOID:0080770 {source="MONDO:equivalentTo"} +xref: GARD:17164 {source="Orphanet:231226"} xref: ICD10CM:D56.1 {source="Orphanet:231226", source="Orphanet:231226/attributed", source="Orphanet:231226/ntbt"} xref: MESH:C565834 {source="MONDO:equivalentTo"} xref: OMIM:603902 {source="MONDO:equivalentTo", source="Orphanet:231226", source="Orphanet:231226/e"} @@ -224492,6 +229240,7 @@ property_value: confidence "4.714285714285714" xsd:double id: MONDO:0011382 name: sickle cell anemia def: "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." [Orphanet:232] +subset: gard_rare {source="GARD:8614"} subset: ordo_disease {source="Orphanet:232"} synonym: "drepanocytosis" EXACT [DOID:10923] synonym: "Haemoglobin S disease" RELATED OMO:0003005 [] @@ -224511,6 +229260,7 @@ synonym: "sickling disorder due to Haemoglobin S" EXACT OMO:0003005 [] synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383] xref: DOID:10923 {source="MONDO:equivalentTo"} xref: EFO:1001797 {source="MONDO:equivalentTo"} +xref: GARD:8614 {source="Orphanet:232"} xref: ICD10CM:D57 {source="DOID:10923"} xref: ICD10CM:D57.0 {source="Orphanet:232/specific", source="Orphanet:232/btnt", source="Orphanet:232"} xref: ICD10CM:D57.1 {source="Orphanet:232/specific", source="DOID:10923", source="Orphanet:232/btnt", source="Orphanet:232"} @@ -224552,6 +229302,7 @@ property_value: confidence "4.2777777777777795" xsd:double id: MONDO:0011383 name: autoimmune lymphoproliferative syndrome type 2A def: "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39576] +subset: gard_rare {source="GARD:15361"} synonym: "ALPS-CASP10" EXACT [NCIT:C39576] synonym: "ALPS2A" EXACT ABBREVIATION [DOID:0110115, MONDO:Lexical, OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern] @@ -224565,6 +229316,7 @@ synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pa synonym: "type 2 ALPS" EXACT [NCIT:C39576] synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576] xref: DOID:0110115 {source="MONDO:equivalentTo"} +xref: GARD:15361 {source="OMIM:603909"} xref: ICD10CM:D47.9 {source="DOID:0110115"} xref: MESH:C565833 {source="MONDO:equivalentTo"} xref: NCIT:C39576 {source="MONDO:equivalentTo"} @@ -224697,12 +229449,14 @@ is_obsolete: true id: MONDO:0011389 name: autosomal dominant nonsyndromic hearing loss 16 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." [DOID:0110547, PMID:10364526] +subset: gard_rare {source="GARD:18110"} synonym: "autosomal dominant deafness 16" NARROW [DOID:0110547] synonym: "autosomal dominant nonsyndromic deafness 16" NARROW [OMIM:603964] synonym: "autosomal dominant nonsyndromic deafness type 16" NARROW [DOID:0110547, MONDORULE:2] synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical, OMIM:603964, OMIM:genemap2] synonym: "DFNA16" NARROW ABBREVIATION [DOID:0110547, MONDO:Lexical, OMIM:603964] xref: DOID:0110547 {source="MONDO:equivalentTo"} +xref: GARD:18110 {source="OMIM:603964"} xref: ICD10CM:H90.3 {source="DOID:0110547"} xref: MESH:C565832 {source="MONDO:equivalentTo"} xref: OMIM:603964 {source="DOID:0110547", source="MONDO:equivalentTo"} @@ -224715,6 +229469,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011390 name: focal segmental glomerulosclerosis 2 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15362"} synonym: "focal segmental glomerulosclerosis 2" EXACT [MONDO:Lexical, OMIM:603965] synonym: "focal segmental glomerulosclerosis caused by mutation in TRPC6" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 2" EXACT [DOID:0111129, MONDORULE:1, OMIM:603965] @@ -224722,6 +229477,7 @@ synonym: "FSGS2" EXACT ABBREVIATION [DOID:0111129, MONDO:Lexical, OMIM:603965] synonym: "glomerulosclerosis, focal segmental, 2" RELATED [OMIM:603965] synonym: "TRPC6 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111129 {source="MONDO:equivalentTo"} +xref: GARD:15362 {source="OMIM:603965"} xref: ICD10CM:N04.1 {source="DOID:0111129"} xref: MESH:C565831 {source="MONDO:equivalentTo"} xref: OMIM:603965 {source="DOID:0111129", source="MONDO:equivalentTo"} @@ -224736,7 +229492,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0011391 name: megalencephalic leukoencephalopathy with subcortical cysts def: "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." [Orphanet:2478] -subset: gard_rare {source="GARD:0003445"} +subset: gard_rare {source="GARD:3445"} subset: ordo_disease {source="Orphanet:2478"} synonym: "megalencephalic leukodystrophy" EXACT [Orphanet:2478] synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical, OMIM:604004] @@ -224748,6 +229504,7 @@ synonym: "MLC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604004] synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [Orphanet:2478] synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478] xref: DOID:0080315 {source="MONDO:equivalentTo"} +xref: GARD:3445 {source="Orphanet:2478"} xref: ICD10CM:E75.2 {source="Orphanet:2478/attributed", source="Orphanet:2478/ntbt", source="Orphanet:2478"} xref: MESH:C536141 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"} @@ -224762,12 +229519,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3445/megalen id: MONDO:0011392 name: autosomal recessive nonsyndromic hearing loss 20 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." [DOID:0110478, PMID:10196710] +subset: gard_rare {source="GARD:22598"} synonym: "autosomal recessive deafness 20" NARROW [DOID:0110478] synonym: "autosomal recessive nonsyndromic deafness 20" NARROW [OMIM:604060] synonym: "autosomal recessive nonsyndromic deafness type 20" NARROW [DOID:0110478, MONDORULE:2] synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical, OMIM:604060, OMIM:genemap2] synonym: "DFNB20" NARROW ABBREVIATION [DOID:0110478, MONDO:Lexical, OMIM:604060] xref: DOID:0110478 {source="MONDO:equivalentTo"} +xref: GARD:22598 {source="OMIM:604060"} xref: ICD10CM:H90.3 {source="DOID:0110478"} xref: MESH:C565828 {source="MONDO:equivalentTo"} xref: OMIM:604060 {source="DOID:0110478", source="MONDO:equivalentTo"} @@ -224812,13 +229571,14 @@ replaced_by: MONDO:0018855 id: MONDO:0011395 name: cone-rod dystrophy 3 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010653"} +subset: gard_rare {source="GARD:10653"} synonym: "ABCA4 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 3" EXACT [MONDO:Lexical, OMIM:604116] synonym: "cone-rod dystrophy caused by mutation in ABCA4" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 3" EXACT [DOID:0111013, MONDORULE:1, OMIM:604116] synonym: "CORD3" EXACT ABBREVIATION [DOID:0111013, MONDO:Lexical, OMIM:604116] xref: DOID:0111013 {source="MONDO:equivalentTo"} +xref: GARD:10653 {source="OMIM:604116"} xref: MESH:C565827 {source="MONDO:equivalentTo"} xref: OMIM:604116 {source="MONDO:equivalentTo", source="DOID:0111013"} xref: UMLS:C1858806 {source="OMIM:604116", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -224834,6 +229594,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10653/cone-r id: MONDO:0011396 name: loricrin keratoderma def: "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." [Orphanet:79395] +subset: gard_rare {source="GARD:16719"} subset: ordo_disease {source="Orphanet:79395"} synonym: "Camisa disease" EXACT [Orphanet:79395] synonym: "keratoderma hereditarium mutilans with ichthyosis" EXACT [Orphanet:79395] @@ -224842,6 +229603,7 @@ synonym: "loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395] synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117] synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395] synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117] +xref: GARD:16719 {source="Orphanet:79395"} xref: ICD10CM:Q82.8 {source="Orphanet:79395", source="Orphanet:79395/attributed", source="Orphanet:79395/ntbt"} xref: MESH:C565826 {source="MONDO:equivalentTo"} xref: OMIM:604117 {source="MONDO:equivalentTo", source="Orphanet:79395", source="Orphanet:79395/e"} @@ -224861,7 +229623,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011397 name: autosomal dominant cerebellar ataxia, deafness and narcolepsy def: "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." [Orphanet:314404] -subset: gard_rare {source="GARD:0012372"} +subset: gard_rare {source="GARD:12372"} subset: ordo_disease {source="Orphanet:314404"} synonym: "ADCA-DN" RELATED [GARD:0012372] synonym: "ADCA-DN syndrome" EXACT [Orphanet:314404] @@ -224871,6 +229633,7 @@ synonym: "autosomal dominant cerebellar ataxia, deafness, and narcolepsy" RELATE synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" RELATED [GARD:0012372] synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121] xref: DOID:0050968 {source="MONDO:equivalentTo"} +xref: GARD:12372 {source="Orphanet:314404"} xref: OMIM:604121 {source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968", source="Orphanet:314404/e"} xref: Orphanet:314404 {source="MONDO:equivalentTo", source="OMIM:604121"} xref: UMLS:C1858804 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -224888,6 +229651,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12372/autoso id: MONDO:0011398 name: dystrophic epidermolysis bullosa pruriginosa def: "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." [Orphanet:89843] +subset: gard_rare {source="GARD:16779"} subset: ordo_disease {source="Orphanet:89843"} synonym: "DEB, pruriginosa" EXACT [Orphanet:89843] synonym: "Deb, pruriginosa" RELATED [OMIM:604129] @@ -224895,6 +229659,7 @@ synonym: "DEB-Pr" EXACT [Orphanet:89843] synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129] synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129] synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843] +xref: GARD:16779 {source="Orphanet:89843"} xref: ICD10CM:Q81.2 {source="Orphanet:89843/attributed", source="Orphanet:89843/ntbt", source="Orphanet:89843"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563192 {source="MONDO:equivalentTo"} @@ -224910,6 +229675,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0011399 name: alpha thalassemia def: "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." [Orphanet:846] +subset: gard_rare {source="GARD:621"} subset: ordo_disease {source="Orphanet:846"} synonym: "A-thalassemia" RELATED [GARD:0000621] synonym: "Alpha thalassaemia" EXACT [DOID:1099] @@ -224918,6 +229684,7 @@ synonym: "alpha-thalassemia" EXACT [DOID:1099] synonym: "thalassemia, alpha-" EXACT [OMIM:604131, OMIM:genemap2] synonym: "thalassemias, alpha-" EXACT [OMIM:604131, OMIM:genemap2] xref: DOID:1099 {source="MONDO:equivalentTo"} +xref: GARD:621 {source="Orphanet:846"} xref: ICD10CM:D56.0 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/specific", source="Orphanet:846/e"} xref: ICD9:282.43 {source="DOID:1099"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -224940,6 +229707,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011400 name: dilated cardiomyopathy 1G def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15363"} synonym: "cardiomyopathy, dilated, 1G" RELATED [MONDO:Lexical, OMIM:604145] synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4, OMIM:604145] synonym: "CMD1G" EXACT ABBREVIATION [DOID:0110430, MONDO:Lexical, OMIM:604145] @@ -224947,6 +229715,7 @@ synonym: "dilated cardiomyopathy type 1G" EXACT [DOID:0110430, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "TTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110430 {source="MONDO:equivalentTo"} +xref: GARD:15363 {source="OMIM:604145"} xref: ICD10CM:I42.0 {source="DOID:0110430"} xref: MESH:C565824 {source="MONDO:equivalentTo"} xref: OMIM:604145 {source="MONDO:equivalentTo", source="DOID:0110430"} @@ -224959,6 +229728,7 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0011401 name: Alzheimer disease without neurofibrillary tangles +subset: gard_rare {source="GARD:7190"} synonym: "AD15" EXACT ABBREVIATION [DOID:0110048, MONDO:Lexical, OMIM:611155] synonym: "Alzheimer disease 15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:611155] synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [OMIM:604154] @@ -224967,6 +229737,7 @@ synonym: "Alzheimer's disease 15" EXACT [doi:10.1093/jama/9780195176339.003.0016 synonym: "Alzheimer's disease type 15" EXACT [DOID:0110048, MONDORULE:2] synonym: "Alzheimer's disease without neurofibrillary tangles" RELATED [GARD:0007190] xref: DOID:0110048 {source="MONDO:equivalentTo"} +xref: GARD:7190 {source="OMIM:604154"} xref: ICD10CM:G30 {source="DOID:0110048"} xref: MESH:C536599 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C566998 {source="MONDO:equivalentTo"} @@ -224984,11 +229755,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011402 name: congenital cataracts-facial dysmorphism-neuropathy syndrome def: "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." [Orphanet:48431] +subset: gard_rare {source="GARD:16645"} subset: ordo_malformation_syndrome {source="Orphanet:48431"} synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168] synonym: "CCFDN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604168, Orphanet:48431] synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:16645 {source="Orphanet:48431"} xref: ICD10CM:Q87.8 {source="Orphanet:48431/attributed", source="Orphanet:48431/ntbt", source="Orphanet:48431"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565822 {source="MONDO:equivalentTo"} @@ -225043,6 +229816,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011405 name: poikiloderma with neutropenia def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." [DOID:0060551, PMID:20734427] +subset: gard_rare {source="GARD:4085"} subset: ordo_disease {source="Orphanet:221046"} synonym: "Clericuzio type poikiloderma with neutropenia" RELATED [GARD:0004085] synonym: "PN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604173] @@ -225051,6 +229825,7 @@ synonym: "poikiloderma with neutropenia Clericuzio type" RELATED [GARD:0004085] synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046] synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173] xref: DOID:0060551 {source="MONDO:equivalentTo"} +xref: GARD:4085 {source="Orphanet:221046"} xref: ICD10CM:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="Orphanet:221046/attributed", source="Orphanet:221046/ntbt"} xref: NCIT:C177535 {source="MONDO:equivalentTo"} xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="MONDO:equivalentTo", source="Orphanet:221046/e"} @@ -225077,12 +229852,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011407 name: facial paresis, hereditary congenital, 2 +subset: gard_rare {source="GARD:18436"} synonym: "facial paresis, hereditary congenital, 2" EXACT [MONDO:Lexical, OMIM:604185] synonym: "HCFP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604185] synonym: "Mobius syndrome 3" RELATED [OMIM:604185] synonym: "Mobius syndrome 3, formerly" RELATED [OMIM:604185] synonym: "Moebius syndrome 3" RELATED [OMIM:604185] synonym: "Moebius syndrome 3, formerly" RELATED [OMIM:604185] +xref: GARD:18436 {source="OMIM:604185"} xref: OMIM:604185 {source="MONDO:equivalentTo"} xref: Orphanet:306530 {source="OMIM:604185"} xref: UMLS:C1858717 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604185"} @@ -225095,6 +229872,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011408 name: hereditary spastic paraplegia 10 def: "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." [Orphanet:100991] +subset: gard_rare {source="GARD:9590"} subset: ordo_disease {source="Orphanet:100991"} synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590] synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763] @@ -225107,6 +229885,7 @@ synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [ synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187] synonym: "SPG10" EXACT ABBREVIATION [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991] xref: DOID:0110763 {source="MONDO:equivalentTo"} +xref: GARD:9590 {source="Orphanet:100991"} xref: ICD10CM:G11.4 {source="Orphanet:100991/attributed", source="Orphanet:100991/ntbt", source="Orphanet:100991", source="DOID:0110763"} xref: MESH:C537482 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e"} xref: OMIM:604187 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e", source="DOID:0110763"} @@ -225147,7 +229926,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011411 name: Chudley-McCullough syndrome -subset: gard_rare +subset: gard_rare {source="GARD:86"} subset: ordo_malformation_syndrome {source="Orphanet:314597"} synonym: "Chudley-McCullough syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604213] synonym: "CMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604213] @@ -225155,6 +229934,7 @@ synonym: "deafness, autosomal recessive 82" RELATED [OMIM:604213] synonym: "deafness, autosomal recessive 82, formerly" RELATED [OMIM:604213] synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" RELATED [GARD:0000086] synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213] +xref: GARD:86 {source="Orphanet:314597"} xref: MESH:C535459 {source="MONDO:equivalentTo"} xref: OMIM:604213 {source="Orphanet:314597/e", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597"} xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"} @@ -225167,12 +229947,13 @@ property_value: confidence "8.375" xsd:double [Term] id: MONDO:0011412 name: familial encephalopathy with neuroserpin inclusion bodies -subset: gard_rare {source="GARD:0010037"} +subset: gard_rare {source="GARD:10037"} subset: ordo_disease {source="Orphanet:85110"} synonym: "encephalopathy, familial, with Collins bodies" RELATED [OMIM:604218] synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical, OMIM:604218] synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110] xref: DOID:0050831 {source="MONDO:equivalentTo"} +xref: GARD:10037 {source="Orphanet:85110"} xref: ICD10CM:G31.8 {source="Orphanet:85110/attributed", source="Orphanet:85110/ntbt", source="Orphanet:85110"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536841 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="Orphanet:85110"} @@ -225191,6 +229972,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10037/famili id: MONDO:0011413 name: cataract 9 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15364"} synonym: "autosomal recessive congenital cataract 1" NARROW [DOID:0110266] synonym: "cataract (disease) caused by mutation in CRYAA" EXACT [] synonym: "cataract 9 multiple types with or without microcornea" EXACT [DOID:0110266] @@ -225202,6 +229984,7 @@ synonym: "CATC1" NARROW ABBREVIATION [DOID:0110266] synonym: "CRYAA cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CTRCT9" EXACT ABBREVIATION [DOID:0110266, MONDO:Lexical, OMIM:604219] xref: DOID:0110266 {source="MONDO:equivalentTo"} +xref: GARD:15364 {source="OMIM:604219"} xref: ICD10CM:Q12.0 {source="DOID:0110266"} xref: OMIM:604219 {source="MONDO:equivalentTo", source="DOID:0110266"} xref: Orphanet:1377 {source="MONDO:relatedTo", source="OMIM:604219"} @@ -225220,6 +230003,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011414 name: Peters anomaly def: "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." [Orphanet:708] +subset: gard_rare {source="GARD:7377"} subset: ordo_morphological_anomaly {source="Orphanet:708"} synonym: "anterior segment dysgenesis 5" RELATED [OMIM:604229] synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [OMIM:604229, OMIM:genemap2] @@ -225229,6 +230013,7 @@ synonym: "Peters anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165 synonym: "Peters congenital glaucoma" EXACT [Orphanet:708] xref: DOID:0060673 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0080610 {source="MONDO:equivalentTo"} +xref: GARD:7377 {source="Orphanet:708"} xref: HP:0000659 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.4 {source="DOID:0060673", source="Orphanet:708/inclusion", source="Orphanet:708", source="Orphanet:708/ntbt"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -225248,7 +230033,7 @@ property_value: IAO:0000589 "Peters anomaly (disease)" xsd:string id: MONDO:0011415 name: Leber congenital amaurosis 3 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009661"} +subset: gard_rare {source="GARD:9661"} synonym: "amaurosis congenita of Leber, type 3" RELATED [GARD:0009661] synonym: "LCA3" EXACT ABBREVIATION [DOID:0110331, MONDO:Lexical, OMIM:604232] synonym: "Leber congenital amaurosis 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604232] @@ -225258,6 +230043,7 @@ synonym: "retinitis pigmentosa, juvenile, autosomal recessive" EXACT [OMIM:60423 synonym: "retinitis pigmentosa, juvenile, Spata7-related" RELATED [OMIM:604232] synonym: "SPATA7 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110331 {source="MONDO:equivalentTo"} +xref: GARD:9661 {source="OMIM:604232"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110331"} xref: MESH:C565814 {source="MONDO:equivalentTo"} xref: OMIM:604232 {source="MONDO:equivalentTo", source="DOID:0110331"} @@ -225276,10 +230062,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9661/leber-c [Term] id: MONDO:0011416 name: generalized epilepsy with febrile seizures plus, type 1 +subset: gard_rare {source="GARD:18659"} synonym: "Gefs+, type 1" RELATED [OMIM:604233] synonym: "GEFSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604233] synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [MONDO:Lexical, OMIM:604233] xref: DOID:0111302 {source="MONDO:equivalentTo"} +xref: GARD:18659 {source="OMIM:604233"} xref: MESH:C565809 {source="MONDO:equivalentTo"} xref: OMIM:604233 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:604233"} @@ -225290,7 +230078,7 @@ is_a: MONDO:0018214 {source="DC-OMIM:604233", source="OMIM:604233"} ! generalize id: MONDO:0011417 name: hemochromatosis type 3 def: "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:225123] -subset: gard_rare {source="GARD:0010093"} +subset: gard_rare {source="GARD:10093"} subset: ordo_disease {source="Orphanet:225123"} synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030, OMIM:604250] synonym: "hemochromatosis type 3" EXACT CLINGEN_PREFERRED [] @@ -225300,6 +230088,7 @@ synonym: "HFE3" EXACT ABBREVIATION [DOID:0111030, MONDO:Lexical, OMIM:604250] synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123] xref: DOID:0111030 {source="MONDO:equivalentTo"} +xref: GARD:10093 {source="Orphanet:225123"} xref: ICD10CM:E83.1 {source="DOID:0111030", source="Orphanet:225123/attributed", source="Orphanet:225123/ntbt", source="Orphanet:225123"} xref: MESH:C537248 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} xref: OMIM:604250 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} @@ -225330,7 +230119,6 @@ relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000- [Term] id: MONDO:0011419 name: camera-Marugo-Cohen syndrome -subset: gard_rare {source="GARD:0008413"} synonym: "camera Marugo Cohen syndrome" RELATED [GARD:0008413] synonym: "camera-Marugo-Cohen syndrome" EXACT [OMIM:604257] synonym: "obesity, intellectual disability, body asymmetry, and muscle weakness" RELATED [GARD:0008413] @@ -225345,6 +230133,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8413/camera- id: MONDO:0011420 name: short stature due to partial GHR deficiency def: "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." [Orphanet:314802] +subset: gard_rare {source="GARD:17435"} subset: ordo_disease {source="Orphanet:314802"} synonym: "GHIP" RELATED ABBREVIATION [MESH:C565805, MONDO:Lexical, OMIM:604271] synonym: "Growth hormone deficiency, isolated, partial" RELATED [MESH:C565805] @@ -225352,6 +230141,7 @@ synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Le synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805] synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271] synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802] +xref: GARD:17435 {source="Orphanet:314802"} xref: ICD10CM:E34.3 {source="Orphanet:314802", source="Orphanet:314802/attributed", source="Orphanet:314802/ntbt"} xref: MESH:C565805 {source="MONDO:equivalentTo"} xref: OMIM:604271 {source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802", source="Orphanet:314802/e"} @@ -225365,7 +230155,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0011421 name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:18660"} subset: prototype_pattern synonym: "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Complex 5 mitochondrial respiratory chain deficiency" RELATED [GARD:0001459] @@ -225376,6 +230166,7 @@ synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXA synonym: "mitochondrial complex V deficiency" BROAD [GARD:0001459] synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern] xref: DOID:0050768 {source="MONDO:equivalentTo"} +xref: GARD:18660 {source="OMIM:604273"} xref: ICD10CM:E88.8 {source="DOID:0050768"} xref: OMIM:604273 {source="MONDO:equivalentTo", source="DOID:0050768"} xref: Orphanet:254913 {source="DOID:0050768", source="OMIM:604273"} @@ -225393,6 +230184,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1459/mitocho id: MONDO:0011422 name: autosomal recessive proximal renal tubular acidosis def: "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." [Orphanet:93607] +subset: gard_rare {source="GARD:16826"} subset: ordo_clinical_subtype {source="Orphanet:93607"} synonym: "AR pRTA" EXACT [Orphanet:93607] synonym: "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" EXACT [Orphanet:93607] @@ -225401,6 +230193,7 @@ synonym: "renal tubular acidosis, proximal, with ocular abnormalities" EXACT [OM synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability" RELATED [OMIM:604278] synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [OMIM:604278] synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278] +xref: GARD:16826 {source="Orphanet:93607"} xref: MESH:C567038 {source="MONDO:equivalentTo"} xref: OMIM:604278 {source="Orphanet:93607/e", source="MONDO:equivalentTo", source="Orphanet:93607"} xref: Orphanet:47159 {source="OMIM:604278"} @@ -225417,7 +230210,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011423 name: autosomal recessive limb-girdle muscular dystrophy type 2E def: "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." [Orphanet:119] -subset: gard_rare +subset: gard_rare {source="GARD:3851"} subset: ordo_disease {source="Orphanet:119"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern] synonym: "Beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851] @@ -225430,6 +230223,7 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 4" EXACT [OMIM:60 synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286] synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110279 {source="MONDO:equivalentTo"} +xref: GARD:3851 {source="Orphanet:119"} xref: ICD10CM:G71.0 {source="Orphanet:119/ntbt", source="Orphanet:119/inclusion", source="Orphanet:119", source="DOID:0110279"} xref: OMIM:604286 {source="Orphanet:119", source="MONDO:equivalentTo", source="Orphanet:119/e", source="DOID:0110279"} xref: Orphanet:119 {source="MONDO:equivalentTo", source="OMIM:604286", source="DOID:0110279"} @@ -225450,10 +230244,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011424 name: Carney triad def: "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." [Orphanet:139411] -subset: gard_rare {source="GARD:0010924"} +subset: gard_rare {source="GARD:10924"} subset: ordo_disease {source="Orphanet:139411"} synonym: "Carney triad" EXACT [OMIM:604287] synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287] +xref: GARD:10924 {source="Orphanet:139411"} xref: ICD10CM:D44.8 {source="Orphanet:139411/attributed", source="Orphanet:139411/ntbt", source="Orphanet:139411"} xref: MESH:C565803 {source="MONDO:equivalentTo"} xref: NCIT:C94833 {source="MONDO:equivalentTo"} @@ -225474,12 +230269,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10924/carney id: MONDO:0011425 name: dilated cardiomyopathy 1H def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." [DOID:0110429, PMID:10486326] +subset: gard_rare {source="GARD:15365"} synonym: "cardiomyopathy, dilated, 1H" RELATED [MONDO:Lexical, OMIM:604288] synonym: "cardiomyopathy, dilated, with conduction defect" RELATED [OMIM:604288] synonym: "CMD1H" EXACT ABBREVIATION [DOID:0110429, MONDO:Lexical, OMIM:604288] synonym: "dilated cardiomyopathy type 1H" EXACT [DOID:0110429, MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect" EXACT [DOID:0110429] xref: DOID:0110429 {source="MONDO:equivalentTo"} +xref: GARD:15365 {source="OMIM:604288"} xref: ICD10CM:I42.0 {source="DOID:0110429"} xref: MESH:C536277 {source="MONDO:equivalentTo"} xref: OMIM:604288 {source="MONDO:equivalentTo", source="DOID:0110429"} @@ -225492,7 +230289,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0011426 name: aceruloplasminemia def: "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." [https://orcid.org/0000-0001-5208-3432, Orphanet:48818] -subset: gard_rare {source="GARD:0009499"} +subset: gard_rare {source="GARD:9499"} subset: ordo_disease {source="Orphanet:48818"} synonym: "aceruloplasminemia" EXACT CLINGEN_PREFERRED [OMIM:604290] synonym: "cerebellar ataxia" BROAD [OMIM:604290, OMIM:genemap2] @@ -225504,6 +230301,7 @@ synonym: "hypoceruloplasminemia" RELATED [OMIM:604290] synonym: "hypoceruloplasminemia, hereditary" EXACT [OMIM:604290, OMIM:genemap2] synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499] xref: DOID:0050711 {source="MONDO:equivalentTo"} +xref: GARD:9499 {source="Orphanet:48818"} xref: ICD10CM:G23.0 {source="Orphanet:48818", source="Orphanet:48818/attributed", source="Orphanet:48818/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536004 {source="Orphanet:48818", source="Orphanet:48818/e"} @@ -225568,6 +230366,7 @@ id: MONDO:0011429 name: juvenile idiopathic arthritis def: "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." [Orphanet:92] subset: disease_grouping +subset: gard_rare {source="GARD:18677"} subset: ordo_group_of_disorders {source="Orphanet:92"} synonym: "acute juvenile rheumatoid arthritis" NARROW [DOID:676] synonym: "JIA" EXACT ABBREVIATION [NCIT:C114357] @@ -225583,6 +230382,7 @@ synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302] synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [OMIM:604302, OMIM:genemap2] synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302] xref: DOID:676 {source="MONDO:equivalentTo"} +xref: GARD:18677 {source="Orphanet:92"} xref: ICD10CM:M08.0 {source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD10CM:M08.1 {source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD10CM:M08.2 {source="Orphanet:92", source="Orphanet:92/btnt"} @@ -225632,10 +230432,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011430 name: pulverulent cataract def: "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." [Orphanet:98984] +subset: gard_rare {source="GARD:16884"} subset: ordo_clinical_subtype {source="Orphanet:98984"} synonym: "Coppock-like cataract" EXACT [Orphanet:98984] synonym: "dusty cataract" EXACT [Orphanet:98984] synonym: "pulverulent cataract" EXACT [Orphanet:98984] +xref: GARD:16884 {source="Orphanet:98984"} xref: ICD10CM:Q12.0 {source="Orphanet:98984/attributed", source="Orphanet:98984/ntbt", source="Orphanet:98984", source="DOID:0110235"} xref: MESH:C565133 {source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:604307"} @@ -225654,7 +230456,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011431 name: MASS syndrome def: "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome] -subset: gard_rare {source="GARD:0008489"} synonym: "MASS phenotype" EXACT [OMIM:604308] synonym: "MASS syndrome" EXACT [OMIM:604308] synonym: "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" RELATED [GARD:0008489] @@ -225673,6 +230474,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8489/mass-sy [Term] id: MONDO:0011432 name: blepharophimosis - intellectual disability syndrome, Verloes type +subset: gard_rare {source="GARD:17342"} subset: ordo_malformation_syndrome {source="Orphanet:293725"} synonym: "blepharophimosis with facial and genital anomalies and intellectual disability" RELATED [OMIM:604314] synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED DEPRECATED [OMIM:604314] @@ -225681,6 +230483,7 @@ synonym: "blepharophimosis-intellectual disability syndrome, Verloes type" RELAT synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:604314] synonym: "BMRS type V" EXACT [Orphanet:293725] synonym: "BMRS, Verloes type" EXACT [Orphanet:293725] +xref: GARD:17342 {source="Orphanet:293725"} xref: MESH:C565797 {source="MONDO:equivalentTo"} xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="Orphanet:293725/e"} xref: Orphanet:293725 {source="OMIM:604314", source="MONDO:equivalentTo"} @@ -225716,9 +230519,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011435 name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations +subset: gard_rare {source="GARD:15366"} synonym: "MCPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604317] synonym: "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604317] xref: DOID:0070293 {source="MONDO:equivalentTo"} +xref: GARD:15366 {source="OMIM:604317"} xref: MESH:C565794 {source="MONDO:equivalentTo"} xref: OMIM:604317 {source="MONDO:equivalentTo"} xref: UMLS:C1858535 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604317"} @@ -225730,6 +230535,7 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0011436 name: autosomal recessive distal spinal muscular atrophy 1 def: "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." [Orphanet:98920] +subset: gard_rare {source="GARD:8592"} subset: ordo_disease {source="Orphanet:98920"} synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [DOID:0111064, MONDORULE:1, Orphanet:98920] @@ -225758,6 +230564,7 @@ synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320] synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:604320] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320] xref: DOID:0111064 {source="MONDO:equivalentTo"} +xref: GARD:8592 {source="Orphanet:98920"} xref: ICD10CM:G12.2 {source="Orphanet:98920/attributed", source="Orphanet:98920/ntbt", source="Orphanet:98920", source="DOID:0111064"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536880 {source="MONDO:equivalentTo"} @@ -225775,9 +230582,11 @@ property_value: confidence "0.14285714285714302" xsd:double [Term] id: MONDO:0011437 name: microcephaly 4, primary, autosomal recessive +subset: gard_rare {source="GARD:15367"} synonym: "MCPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604321] synonym: "microcephaly 4, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604321] xref: DOID:0070291 {source="MONDO:equivalentTo"} +xref: GARD:15367 {source="OMIM:604321"} xref: MESH:C565792 {source="MONDO:equivalentTo"} xref: OMIM:604321 {source="MONDO:equivalentTo"} xref: UMLS:C1858516 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604321"} @@ -225825,11 +230634,13 @@ property_value: IAO:0000589 "acne (disease)" xsd:string id: MONDO:0011439 name: spinocerebellar ataxia type 12 def: "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." [Orphanet:98762] +subset: gard_rare {source="GARD:10476"} subset: ordo_disease {source="Orphanet:98762"} synonym: "SCA12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604326, Orphanet:98762] synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326] synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326] xref: DOID:0050962 {source="MONDO:equivalentTo"} +xref: GARD:10476 {source="Orphanet:98762"} xref: ICD10CM:G11.2 {source="Orphanet:98762", source="Orphanet:98762/attributed", source="Orphanet:98762/ntbt"} xref: MESH:C565790 {source="MONDO:equivalentTo"} xref: NCIT:C154316 {source="MONDO:equivalentTo"} @@ -225861,6 +230672,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011441 name: complex regional pain syndrome type 1 def: "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." [Orphanet:99995] +subset: gard_rare {source="GARD:16928"} subset: ordo_clinical_subtype {source="Orphanet:99995"} synonym: "Algodystrophy" EXACT [Orphanet:99995] synonym: "Complex regional pain syndrome I" EXACT [NCIT:C85042] @@ -225874,6 +230686,7 @@ synonym: "RND" EXACT ABBREVIATION [NCIT:C85042] synonym: "RSDS" EXACT ABBREVIATION [NCIT:C85042] xref: DOID:1811 {source="EFO:1001147", source="MONDO:equivalentTo"} xref: EFO:1001147 {source="MONDO:equivalentTo"} +xref: GARD:16928 {source="Orphanet:99995"} xref: ICD10CM:G90.5 {source="DOID:1811"} xref: ICD10CM:M89.0 {source="Orphanet:99995", source="Orphanet:99995/ntbt", source="DOID:1811", source="MONDO:directSiblingOf"} xref: ICD9:337.2 {source="EFO:1001147", source="DOID:1811"} @@ -225907,6 +230720,7 @@ is_a: MONDO:0019369 {source="DOID:1811", source="MESH:D012019", source="Orphanet id: MONDO:0011442 name: advanced sleep phase syndrome 1 def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15368"} synonym: "advanced sleep phase syndrome caused by mutation in PER2" EXACT [MONDO:design_pattern] synonym: "advanced sleep phase syndrome type 1" EXACT [DOID:0110011, MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:604348] @@ -225915,6 +230729,7 @@ synonym: "familial advanced sleep phase syndrome 1" EXACT [DOID:0110011] synonym: "FASPS1" EXACT ABBREVIATION [DOID:0110011, MONDO:Lexical, OMIM:604348] synonym: "PER2 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110011 {source="MONDO:equivalentTo"} +xref: GARD:15368 {source="OMIM:604348"} xref: OMIM:604348 {source="MONDO:equivalentTo", source="DOID:0110011"} xref: Orphanet:164736 {source="OMIM:604348"} xref: UMLS:C3807327 {source="OMIM:604348", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -225948,13 +230763,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011444 name: Duane retraction syndrome 2 def: "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:9966"} synonym: "CHN1 Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Duane retraction syndrome 2" EXACT [GARD:0009966, MONDO:Lexical, OMIM:604356] synonym: "Duane retraction syndrome caused by mutation in CHN1" EXACT [MONDO:design_pattern] synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1, OMIM:604356] synonym: "Duane syndrome type 2" RELATED [GARD:0009966] synonym: "DURS2" RELATED ABBREVIATION [GARD:0009966, MONDO:Lexical, OMIM:604356] +xref: GARD:9966 {source="OMIM:604356"} xref: OMIM:604356 {source="GARD:0009966", source="MONDO:equivalentTo"} xref: Orphanet:233 {source="GARD:0009966", source="OMIM:604356"} xref: SCTID:128083007 {source="MONDO:equivalentTo"} @@ -225971,6 +230787,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9966/duane-s id: MONDO:0011445 name: hereditary spastic paraplegia 11 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:4919"} subset: ordo_disease {source="Orphanet:2822"} synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764] @@ -225991,6 +230808,7 @@ synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndro synonym: "SPG11" EXACT ABBREVIATION [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822] synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110764 {source="MONDO:equivalentTo"} +xref: GARD:4919 {source="Orphanet:2822"} xref: ICD10CM:G11.4 {source="DOID:0110764", source="Orphanet:2822", source="Orphanet:2822/attributed", source="Orphanet:2822/ntbt"} xref: MESH:C537483 {source="Orphanet:2822", source="Orphanet:2822/e"} xref: MESH:C538335 {source="Orphanet:2822", source="Orphanet:2822/e"} @@ -226030,6 +230848,7 @@ replaced_by: MONDO:0000215 [Term] id: MONDO:0011448 name: PPARG-related familial partial lipodystrophy +subset: gard_rare {source="GARD:12600"} subset: ordo_disease {source="Orphanet:79083"} synonym: "familial partial lipodystrophy associated with PPARG mutations" RELATED [GARD:0012600] synonym: "familial partial lipodystrophy type 3" EXACT [Orphanet:79083] @@ -226039,6 +230858,7 @@ synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELA synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM:604367] synonym: "PPARG-related FPLD" EXACT [Orphanet:79083] xref: DOID:0070204 {source="MONDO:equivalentTo"} +xref: GARD:12600 {source="Orphanet:79083"} xref: ICD10CM:E88.1 {source="Orphanet:79083/attributed", source="Orphanet:79083/ntbt", source="Orphanet:79083"} xref: OMIM:604367 {source="Orphanet:79083", source="MONDO:equivalentTo", source="Orphanet:79083/e"} xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"} @@ -226051,12 +230871,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011449 name: Salla disease def: "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." [https://rarediseases.info.nih.gov/diseases/4754/salla-disease] -subset: gard_rare {source="GARD:0004754"} +subset: gard_rare {source="GARD:4754"} subset: ordo_clinical_subtype {source="Orphanet:309334"} synonym: "Salla disease" EXACT [MONDO:Lexical, OMIM:604369] synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604369] synonym: "sialic acid storage disease" EXACT [NCIT:C85067] synonym: "sialuria, Finnish type" RELATED [OMIM:604369] +xref: GARD:4754 {source="Orphanet:309334"} xref: ICD10CM:E77.8 {source="Orphanet:309334/attributed", source="Orphanet:309334/ntbt", source="Orphanet:309334"} xref: MedDRA:10067531 {source="Orphanet:309334/e", source="Orphanet:309334"} xref: NCIT:C85067 {source="MONDO:equivalentTo"} @@ -226079,6 +230900,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4754/salla-d id: MONDO:0011450 name: breast-ovarian cancer, familial, susceptibility to, 1 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12351"} subset: predisposition synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] @@ -226089,6 +230911,7 @@ synonym: "BROVCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604370] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370] +xref: GARD:12351 {source="OMIM:604370"} xref: OMIM:604370 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:604370"} xref: Orphanet:227535 {source="OMIM:604370"} @@ -226109,6 +230932,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011451 name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18570"} synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" EXACT [MONDO:Lexical, OMIM:604377] synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1, OMIM:604377] synonym: "CEMCOX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604377] @@ -226117,6 +230941,7 @@ synonym: "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" EX synonym: "mitochondrial complex IV deficiency, nuclear type 2" EXACT [OMIM:604377, OMIM:genemap2] synonym: "SCO2 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080357 {source="MONDO:equivalentTo"} +xref: GARD:18570 {source="OMIM:604377"} xref: OMIM:604377 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:604377"} xref: UMLS:C1858424 {source="OMIM:604377", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -226131,6 +230956,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011452 name: hypotrichosis 7 def: "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:8178"} synonym: "alopecia universalis congenita, Mari type" RELATED [GARD:0008178] synonym: "hypotrichosis 7" EXACT [MONDO:Lexical, OMIM:604379] synonym: "hypotrichosis caused by mutation in LIPH" EXACT [MONDO:design_pattern] @@ -226151,6 +230977,7 @@ synonym: "wooly hair, autosomal recessive 2 with or without hypotrichosis" EXACT synonym: "wooly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [OMIM:604379] xref: DOID:0110704 {source="MONDO:equivalentTo"} xref: EFO:0009163 {source="MONDO:equivalentTo"} +xref: GARD:8178 {source="OMIM:604379"} xref: MESH:C536973 {source="MONDO:equivalentTo"} xref: OMIM:604379 {source="MONDO:equivalentTo", source="DOID:0110704"} xref: Orphanet:170 {source="OMIM:604379"} @@ -226180,9 +231007,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011454 name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome def: "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." [Orphanet:228190] +subset: gard_rare {source="GARD:17148"} subset: ordo_malformation_syndrome {source="Orphanet:228190"} synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190] synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381] +xref: GARD:17148 {source="Orphanet:228190"} xref: ICD10CM:Q87.2 {source="Orphanet:228190/attributed", source="Orphanet:228190/ntbt", source="Orphanet:228190"} xref: MESH:C565782 {source="MONDO:equivalentTo"} xref: OMIM:604381 {source="Orphanet:228190", source="MONDO:equivalentTo", source="Orphanet:228190/e"} @@ -226206,6 +231035,7 @@ relationship: disease_has_major_feature HP:0001339 ! Lissencephaly id: MONDO:0011456 name: nephronophthisis 3 def: "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18179"} synonym: "nephronophthisis (disease) caused by mutation in NPHP3" EXACT [] synonym: "nephronophthisis 3" EXACT [MONDO:Lexical, OMIM:604387] synonym: "nephronophthisis type 3" EXACT [DOID:0111114, MONDORULE:1, OMIM:604387] @@ -226214,6 +231044,7 @@ synonym: "Nph3" RELATED [OMIM:604387] synonym: "NPHP3" EXACT ABBREVIATION [DOID:0111114, MONDO:Lexical, OMIM:604387] synonym: "NPHP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111114 {source="MONDO:equivalentTo"} +xref: GARD:18179 {source="OMIM:604387"} xref: MESH:C565780 {source="MONDO:equivalentTo"} xref: OMIM:604387 {source="MONDO:equivalentTo", source="DOID:0111114"} xref: Orphanet:655 {source="OMIM:604387"} @@ -226254,7 +231085,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011458 name: Leber congenital amaurosis 4 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009662"} +subset: gard_rare {source="GARD:9662"} synonym: "AIPL1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amaurosis congenita of Leber, type 4" RELATED [GARD:0009662] synonym: "cone-rod dystrophy" BROAD [OMIM:604393, OMIM:genemap2] @@ -226266,6 +231097,7 @@ synonym: "Leber congenital amaurosis type 4" EXACT [DOID:0110332, MONDORULE:1, O synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:604393, OMIM:genemap2] synonym: "retinitis pigmentosa, juvenile, Aipl1-related" RELATED [OMIM:604393] xref: DOID:0110332 {source="MONDO:equivalentTo"} +xref: GARD:9662 {source="OMIM:604393"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110332"} xref: MESH:C565778 {source="MONDO:equivalentTo"} xref: OMIM:604393 {source="MONDO:equivalentTo", source="DOID:0110332"} @@ -226334,6 +231166,7 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0011461 name: generalized epilepsy with febrile seizures plus, type 2 def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18661"} synonym: "febrile seizures, familial caused by mutation in SCN1A" EXACT [MONDO:design_pattern] synonym: "febrile seizures, familial, 3A" RELATED [OMIM:604403] synonym: "Gefs+, type 2" RELATED [OMIM:604403] @@ -226341,6 +231174,7 @@ synonym: "GEFSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604403] synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [MONDO:Lexical, OMIM:604403] synonym: "SCN1A febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111294 {source="MONDO:equivalentTo"} +xref: GARD:18661 {source="OMIM:604403"} xref: MESH:C565810 {source="MONDO:equivalentTo"} xref: OMIM:604403 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:604403"} @@ -226356,6 +231190,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011462 name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome def: "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." [Orphanet:69126] +subset: gard_rare {source="GARD:9176"} subset: ordo_disease {source="Orphanet:69126"} synonym: "familial recurrent arthritis" EXACT [OMIM:604416, Orphanet:69126] synonym: "fra" EXACT [Orphanet:69126] @@ -226366,6 +231201,7 @@ synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" RELATED [GARD:00091 synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELATED [GARD:0009176] synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416] xref: DOID:0080519 {source="MONDO:equivalentTo"} +xref: GARD:9176 {source="Orphanet:69126"} xref: MESH:C536253 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} xref: NCIT:C119055 {source="MONDO:equivalentTo"} xref: OMIM:604416 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} @@ -226382,8 +231218,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011463 name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive def: "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." [Orphanet:538096] +subset: gard_rare {source="GARD:17976"} subset: ordo_disease synonym: "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" EXACT [OMIM:604431] +xref: GARD:17976 {source="Orphanet:538096"} xref: MESH:C565773 {source="MONDO:equivalentTo"} xref: OMIM:604431 {source="Orphanet:538096", source="MONDO:equivalentTo"} xref: Orphanet:538096 {source="MONDO:equivalentTo"} @@ -226395,11 +231233,13 @@ is_a: MONDO:0003847 {source="MESH:C565773/inferred"} ! hereditary disease id: MONDO:0011464 name: spinocerebellar ataxia type 11 def: "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." [Orphanet:98767] +subset: gard_rare {source="GARD:10475"} subset: ordo_disease {source="Orphanet:98767"} synonym: "SCA11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604432, Orphanet:98767] synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432] synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432] xref: DOID:0050961 {source="MONDO:equivalentTo"} +xref: GARD:10475 {source="Orphanet:98767"} xref: ICD10CM:G11.8 {source="Orphanet:98767/attributed", source="Orphanet:98767/ntbt", source="Orphanet:98767"} xref: MESH:C565772 {source="MONDO:equivalentTo"} xref: OMIM:604432 {source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo", source="Orphanet:98767/e"} @@ -226414,7 +231254,6 @@ property_value: confidence "14.833333333333332" xsd:double [Term] id: MONDO:0011465 name: infundibulocystic basal cell carcinoma -subset: gard_rare {source="GARD:0009788"} synonym: "basal cell carcinoma with follicular differentiation" RELATED [OMIM:604451] synonym: "basal cell carcinoma, infundibulocystic" RELATED [OMIM:604451] synonym: "skin infundibulocystic basal cell carcinoma" EXACT [DOID:4279] @@ -226431,6 +231270,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9788/basal-c id: MONDO:0011466 name: distal myopathy, Welander type def: "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." [Orphanet:603] +subset: gard_rare {source="GARD:5552"} subset: ordo_disease {source="Orphanet:603"} synonym: "distal myopathy, Swedish type" RELATED [GARD:0005552] synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [OMIM:604454] @@ -226438,6 +231278,7 @@ synonym: "myopathy, distal, Swedish" RELATED [OMIM:604454] synonym: "WDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604454, Orphanet:603] synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454] synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552] +xref: GARD:5552 {source="Orphanet:603"} xref: ICD10CM:G71.0 {source="Orphanet:603/attributed", source="Orphanet:603/ntbt", source="Orphanet:603"} xref: MESH:C536690 {source="Orphanet:603", source="Orphanet:603/e"} xref: OMIM:604454 {source="Orphanet:603", source="MONDO:equivalentTo", source="Orphanet:603/e"} @@ -226462,12 +231303,14 @@ is_obsolete: true id: MONDO:0011468 name: hereditary motor and sensory neuropathy, Okinawa type def: "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." [Orphanet:90117] +subset: gard_rare {source="GARD:10131"} subset: ordo_disease {source="Orphanet:90117"} synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [OMIM:604484, Orphanet:90117] synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [OMIM:604484] synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604484] synonym: "HMSNP" EXACT ABBREVIATION [Orphanet:90117] synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484] +xref: GARD:10131 {source="Orphanet:90117"} xref: ICD10CM:G60.0 {source="Orphanet:90117/inclusion", source="Orphanet:90117/ntbt", source="Orphanet:90117"} xref: MESH:C535717 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} xref: OMIM:604484 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} @@ -226483,7 +231326,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011469 name: congenital amegakaryocytic thrombocytopenia def: "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." [Orphanet:3319] -subset: gard_rare {source="GARD:0000640"} +subset: gard_rare {source="GARD:640"} subset: ordo_disease {source="Orphanet:3319"} synonym: "amegakaryocytic thrombocytopenia, congenital" RELATED [MONDO:Lexical, OMIM:604498] synonym: "CAMT" EXACT ABBREVIATION [DOID:0090118, MONDO:Lexical, OMIM:604498, Orphanet:3319] @@ -226492,6 +231335,7 @@ synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:00901 synonym: "thrombocytopenia congenital amegakaryocytic" RELATED [GARD:0000640] synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [OMIM:604498, OMIM:genemap2] xref: DOID:0090118 {source="MONDO:equivalentTo"} +xref: GARD:640 {source="Orphanet:3319"} xref: ICD10CM:D61.0 {source="Orphanet:3319/attributed", source="Orphanet:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"} xref: MESH:C535982 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"} xref: NCIT:C115207 {source="MONDO:equivalentTo"} @@ -226539,6 +231383,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:604519", source="DOID:0110891", source="MES id: MONDO:0011472 name: epidermolysis bullosa simplex due to plakophilin deficiency def: "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." [Orphanet:158668] +subset: gard_rare {source="GARD:9705"} subset: ordo_disease {source="Orphanet:158668"} synonym: "ectodermal dysplasia - skin fragility syndrome" RELATED [GARD:0009705] synonym: "ectodermal dysplasia skin fragility syndrome" RELATED [GARD:0009705] @@ -226546,6 +231391,7 @@ synonym: "ectodermal dysplasia-skin fragility syndrome" EXACT [Orphanet:158668] synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536] synonym: "McGrath syndrome" EXACT [Orphanet:158668] synonym: "Mcgrath syndrome" RELATED [OMIM:604536] +xref: GARD:9705 {source="Orphanet:158668"} xref: ICD10CM:Q81.0 {source="Orphanet:158668", source="Orphanet:158668/attributed", source="Orphanet:158668/ntbt"} xref: MESH:C536183 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} xref: OMIM:604536 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} @@ -226561,7 +231407,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011473 name: Leber congenital amaurosis 5 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009983"} +subset: gard_rare {source="GARD:9983"} synonym: "amaurosis congenita of Leber, type 5" RELATED [GARD:0009983] synonym: "LCA5" EXACT ABBREVIATION [DOID:0110215, MONDO:Lexical, OMIM:604537] synonym: "LCA5 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -226569,6 +231415,7 @@ synonym: "Leber congenital amaurosis 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, synonym: "Leber congenital amaurosis caused by mutation in LCA5" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 5" EXACT [DOID:0110215, MONDORULE:1, OMIM:604537] xref: DOID:0110215 {source="MONDO:equivalentTo"} +xref: GARD:9983 {source="OMIM:604537"} xref: ICD10CM:H35.5 {source="DOID:0110215", source="MONDO:relatedTo"} xref: MESH:C536602 {source="MONDO:equivalentTo"} xref: OMIM:604537 {source="DOID:0110215", source="MONDO:equivalentTo"} @@ -226587,6 +231434,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9983/leber-c id: MONDO:0011474 name: progressive familial heart block type IB def: "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2610"} synonym: "heart block progressive familial type 1B" RELATED [GARD:0002610] synonym: "PFHB1B" EXACT ABBREVIATION [DOID:0111076, MONDO:Lexical, OMIM:604559] synonym: "Pfhbib" RELATED [OMIM:604559] @@ -226596,6 +231444,7 @@ synonym: "progressive familial heart block, type 1B" RELATED [OMIM:604559] synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical, OMIM:604559] synonym: "TRPM4 progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111076 {source="MONDO:equivalentTo"} +xref: GARD:2610 {source="OMIM:604559"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567037 {source="MONDO:equivalentTo"} xref: OMIM:604559 {source="MONDO:equivalentTo", source="DOID:0111076"} @@ -226612,7 +231461,7 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0011475 name: Charcot-Marie-Tooth disease type 4B2 def: "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." [Orphanet:99956] -subset: gard_rare {source="GARD:0009200"} +subset: gard_rare {source="GARD:9200"} subset: ordo_disease {source="Orphanet:99956"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190] synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200] @@ -226628,6 +231477,7 @@ synonym: "CMT 4B2" RELATED [GARD:0009200] synonym: "CMT4B2" EXACT ABBREVIATION [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956] synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110190 {source="MONDO:equivalentTo"} +xref: GARD:9200 {source="Orphanet:99956"} xref: ICD10CM:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="Orphanet:99956/attributed", source="Orphanet:99956/ntbt"} xref: MESH:C535421 {source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: OMIM:604563 {source="DOID:0110190", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} @@ -226648,6 +231498,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9200/charcot id: MONDO:0011476 name: MHC class I deficiency def: "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." [Orphanet:34592] +subset: gard_rare {source="GARD:8427"} subset: ordo_disease {source="Orphanet:34592"} synonym: "Bare lymphocyte syndrome type 1" EXACT [Orphanet:34592] synonym: "bare lymphocyte syndrome type I" EXACT [DOID:0060009] @@ -226663,6 +231514,7 @@ synonym: "HLA CLASS I deficiency" EXACT [DOID:0060009] synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphanet:34592] synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592] xref: DOID:0060009 {source="MONDO:equivalentTo"} +xref: GARD:8427 {source="Orphanet:34592"} xref: ICD10CM:D81.6 {source="Orphanet:34592/specific", source="Orphanet:34592", source="Orphanet:34592/e"} xref: OMIM:604571 {source="MONDO:equivalentTo", source="Orphanet:34592", source="DOID:0060009", source="Orphanet:34592/e"} xref: Orphanet:34592 {source="MONDO:equivalentTo", source="OMIM:604571"} @@ -226677,12 +231529,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011477 name: tooth agenesis, selective, 3 def: "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18247"} synonym: "hypodontia/oligodontia 3" RELATED [OMIM:604625] synonym: "PAX9 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "STHAG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604625] synonym: "tooth agenesis caused by mutation in PAX9" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604625] synonym: "tooth agenesis, selective, type 3" EXACT [MONDORULE:1, OMIM:604625] +xref: GARD:18247 {source="OMIM:604625"} xref: MESH:C567036 {source="MONDO:equivalentTo"} xref: OMIM:604625 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:604625"} @@ -226711,6 +231565,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011479 name: postural orthostatic tachycardia syndrome def: "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." [EFO:1000645] +subset: gard_rare {source="GARD:13591"} subset: ordo_disease {source="Orphanet:443236"} synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [DOID:0111154, Orphanet:443236] synonym: "irritable heart" EXACT [DOID:0111154] @@ -226725,6 +231580,7 @@ synonym: "Soldiers heart" RELATED [OMIM:604715] synonym: "soldiers heart" EXACT [DOID:0111154] xref: DOID:0111154 {source="MONDO:equivalentTo"} xref: EFO:1000645 {source="MONDO:equivalentTo"} +xref: GARD:13591 {source="Orphanet:443236"} xref: ICD10CM:I95.1 {source="Orphanet:443236/attributed", source="Orphanet:443236/ntbt", source="Orphanet:443236", source="DOID:0111154"} xref: MESH:D054972 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C85020 {source="MONDO:equivalentTo"} @@ -226744,6 +231600,7 @@ property_value: IAO:0000233 "https://github.com/obophenotype/human-phenotype-ont id: MONDO:0011480 name: autosomal dominant nonsyndromic hearing loss 20 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18111"} synonym: "ACTG1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 20" NARROW [DOID:0110550] synonym: "autosomal dominant nonsyndromic deafness 20" NARROW [OMIM:604717] @@ -226755,6 +231612,7 @@ synonym: "deafness, autosomal dominant type 20" NARROW [MONDORULE:2, OMIM:604717 synonym: "DFNA20" NARROW ABBREVIATION [DOID:0110550, MONDO:Lexical, OMIM:604717] synonym: "DFNA26" NARROW ABBREVIATION [DOID:0110550] xref: DOID:0110550 {source="MONDO:equivalentTo"} +xref: GARD:18111 {source="OMIM:604717"} xref: ICD10CM:H90.3 {source="DOID:0110550"} xref: MESH:C565754 {source="MONDO:equivalentTo"} xref: OMIM:604717 {source="MONDO:equivalentTo", source="DOID:0110550"} @@ -226771,6 +231629,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011481 name: craniosynostosis 2 def: "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." [Orphanet:1541] +subset: gard_rare {source="GARD:5538"} subset: ordo_malformation_syndrome {source="Orphanet:1541"} synonym: "craniosynostosis 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604757] synonym: "craniosynostosis Boston type" RELATED EXCLUDE [GARD:0005538] @@ -226782,6 +231641,7 @@ synonym: "CRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604757] synonym: "MSX2-related craniosynostosis" EXACT [https://github.com/mhughes5, https://github.com/monarch-initiative/mondo/issues/1933] synonym: "Warman Mulliken Hayward syndrome" RELATED [GARD:0005538] synonym: "Warman-Mulliken-Hayward syndrome" EXACT [Orphanet:1541] +xref: GARD:5538 {source="Orphanet:1541"} xref: ICD10CM:Q75.8 {source="Orphanet:1541", source="Orphanet:1541/attributed", source="Orphanet:1541/ntbt"} xref: OMIM:604757 {source="Orphanet:1541", source="MONDO:equivalentTo", source="Orphanet:1541/e"} xref: Orphanet:1541 {source="MONDO:equivalentTo", source="OMIM:604757"} @@ -226798,6 +231658,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011482 name: dilated cardiomyopathy 1I def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15372"} synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical, OMIM:604765] synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4, OMIM:604765] synonym: "CMD1I" EXACT ABBREVIATION [DOID:0110431, MONDO:Lexical, OMIM:604765] @@ -226805,6 +231666,7 @@ synonym: "DES familial isolated dilated cardiomyopathy" EXACT [MONDO:design_patt synonym: "dilated cardiomyopathy type 1I" EXACT [DOID:0110431, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in DES" EXACT [MONDO:design_pattern] xref: DOID:0110431 {source="MONDO:equivalentTo"} +xref: GARD:15372 {source="OMIM:604765"} xref: ICD10CM:I42.0 {source="DOID:0110431"} xref: MESH:C565752 {source="MONDO:equivalentTo"} xref: OMIM:604765 {source="MONDO:equivalentTo", source="DOID:0110431"} @@ -226817,7 +231679,6 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0011483 name: polycystic bone disease -subset: gard_rare {source="GARD:0008571"} synonym: "Pcbd" RELATED [OMIM:604771] synonym: "polycystic bone disease" EXACT [OMIM:604771] xref: MESH:C536324 {source="MONDO:equivalentTo"} @@ -226872,7 +231733,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011485 name: autosomal recessive congenital ichthyosis 5 def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." [DOID:0060714, PMID:10712223, PMID:16436457] -subset: gard_rare +subset: gard_rare {source="GARD:9734"} synonym: "ARCI5" EXACT ABBREVIATION [DOID:0060714, MESH:C537265, MONDO:Lexical, OMIM:604777] synonym: "autosomal recessive congenital ichthyosis 5" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive congenital ichthyosis type 5" EXACT [DOID:0060714, MONDORULE:1] @@ -226891,6 +231752,7 @@ synonym: "LI3, formerly" RELATED [MESH:C537265] synonym: "NNCI" RELATED ABBREVIATION [MESH:C537265] synonym: "type 3 lamellar ichthyosis" RELATED [MESH:C537265] xref: DOID:0060714 {source="MONDO:equivalentTo"} +xref: GARD:9734 {source="OMIM:604777"} xref: ICD10CM:Q80.2 {source="DOID:0060714"} xref: MESH:C537265 {source="MONDO:equivalentTo"} xref: OMIM:604777 {source="GARD:0009734", source="MONDO:equivalentTo", source="DOID:0060714"} @@ -226907,12 +231769,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9734/ichthyo id: MONDO:0011486 name: congenital muscular dystrophy 1B def: "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." [Orphanet:98893] +subset: gard_rare {source="GARD:12586"} subset: ordo_disease {source="Orphanet:98893"} synonym: "CMD1B" EXACT ABBREVIATION [DOID:0110634, Orphanet:98893] synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4] synonym: "MDC1B" EXACT ABBREVIATION [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893] synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801] xref: DOID:0110634 {source="MONDO:equivalentTo"} +xref: GARD:12586 {source="Orphanet:98893"} xref: ICD10CM:G71.2 {source="DOID:0110634", source="Orphanet:98893/attributed", source="Orphanet:98893/ntbt", source="Orphanet:98893"} xref: MESH:C565748 {source="MONDO:equivalentTo"} xref: OMIM:604801 {source="DOID:0110634", source="Orphanet:98893/e", source="MONDO:equivalentTo", source="Orphanet:98893"} @@ -226928,11 +231792,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011487 name: Huntington disease-like 3 def: "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." [Orphanet:157946] +subset: gard_rare {source="GARD:16986"} subset: ordo_disease {source="Orphanet:157946"} synonym: "HDL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604802, Orphanet:157946] synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802] synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802] synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946] +xref: GARD:16986 {source="Orphanet:157946"} xref: ICD10CM:G10 {source="Orphanet:157946/attributed", source="Orphanet:157946/ntbt", source="Orphanet:157946"} xref: MESH:C565747 {source="MONDO:equivalentTo"} xref: OMIM:604802 {source="Orphanet:157946/e", source="MONDO:equivalentTo", source="Orphanet:157946"} @@ -226948,11 +231814,13 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011488 name: microcephaly 3, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15373"} synonym: "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2" EXACT [MONDO:design_pattern] synonym: "CDK5RAP2 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604804] synonym: "microcephaly 3, primary, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604804] xref: DOID:0070286 {source="MONDO:equivalentTo"} +xref: GARD:15373 {source="OMIM:604804"} xref: MESH:C565746 {source="MONDO:equivalentTo"} xref: OMIM:604804 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:604804"} @@ -226967,6 +231835,7 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0011489 name: hereditary spastic paraplegia 12 def: "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." [Orphanet:100993] +subset: gard_rare {source="GARD:9586"} subset: ordo_disease {source="Orphanet:100993"} synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765] @@ -226977,6 +231846,7 @@ synonym: "spastic paraplegia 12" RELATED [GARD:0009586] synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805] synonym: "SPG12" EXACT ABBREVIATION [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993] xref: DOID:0110765 {source="MONDO:equivalentTo"} +xref: GARD:9586 {source="Orphanet:100993"} xref: ICD10CM:G11.4 {source="DOID:0110765", source="Orphanet:100993/attributed", source="Orphanet:100993/ntbt", source="Orphanet:100993"} xref: MESH:C537484 {source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} xref: OMIM:604805 {source="DOID:0110765", source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} @@ -226995,11 +231865,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011490 name: diffuse panbronchiolitis def: "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" [Orphanet:171700] -subset: gard_rare {source="GARD:0008526"} +subset: gard_rare {source="GARD:8526"} subset: ordo_disease {source="Orphanet:171700"} synonym: "DPb" RELATED [OMIM:604809] synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809] synonym: "PBLT" RELATED ABBREVIATION [OMIM:604809] +xref: GARD:8526 {source="Orphanet:171700"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062952 {source="Orphanet:171700/e", source="Orphanet:171700"} xref: MESH:C536174 {source="Orphanet:171700/e", source="MONDO:equivalentTo", source="Orphanet:171700"} @@ -227045,7 +231916,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011493 name: Stickler syndrome type 2 def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." [Orphanet:828] -subset: gard_rare {source="GARD:0005020"} +subset: gard_rare {source="GARD:5020"} subset: ordo_clinical_subtype {source="Orphanet:90654"} synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern] @@ -227057,6 +231928,7 @@ synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841] synonym: "STL 2" RELATED [GARD:0005020] synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841] xref: DOID:0080675 {source="MONDO:equivalentTo"} +xref: GARD:5020 {source="Orphanet:90654"} xref: ICD10CM:Q87.5 {source="Orphanet:90654/attributed", source="Orphanet:90654/ntbt", source="Orphanet:90654"} xref: MESH:C537493 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: NCIT:C74985 {source="MONDO:equivalentTo"} @@ -227094,10 +231966,12 @@ replaced_by: MONDO:0018310 id: MONDO:0011496 name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis def: "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." [Orphanet:93279] +subset: gard_rare {source="GARD:16812"} subset: ordo_disease {source="Orphanet:93279"} synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864] synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864] synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864] +xref: GARD:16812 {source="Orphanet:93279"} xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="Orphanet:93279/attributed", source="Orphanet:93279/ntbt"} xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565740 {source="MONDO:equivalentTo"} @@ -227115,9 +231989,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011497 name: hereditary North American Indian childhood cirrhosis def: "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." [Orphanet:168583] +subset: gard_rare {source="GARD:17037"} subset: ordo_clinical_subtype {source="Orphanet:168583"} synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604901] synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901] +xref: GARD:17037 {source="Orphanet:168583"} xref: ICD10CM:K74.6 {source="Orphanet:168583/attributed", source="Orphanet:168583/ntbt", source="Orphanet:168583"} xref: MESH:C565737 {source="MONDO:equivalentTo"} xref: OMIM:604901 {source="Orphanet:168583/e", source="MONDO:equivalentTo", source="Orphanet:168583"} @@ -227150,6 +232026,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011499 name: obsolete Okamoto syndrome +xref: GARD:4064 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6335" xsd:anyURI is_obsolete: true @@ -227159,11 +232036,12 @@ replaced_by: MONDO:0014700 id: MONDO:0011500 name: Becker nevus syndrome def: "Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." [https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome] -subset: gard_rare {source="GARD:0003856"} +subset: gard_rare {source="GARD:3856"} subset: ordo_disease {source="Orphanet:64755"} synonym: "Becker nevus syndrome" EXACT [OMIM:604919] synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856] synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755] +xref: GARD:3856 {source="Orphanet:64755"} xref: ICD10CM:D22.5 {source="Orphanet:64755/attributed", source="Orphanet:64755/ntbt", source="Orphanet:64755"} xref: MESH:C565735 {source="MONDO:equivalentTo"} xref: OMIM:604919 {source="Orphanet:64755", source="MONDO:equivalentTo", source="Orphanet:64755/e"} @@ -227182,11 +232060,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3856/becker- id: MONDO:0011501 name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia def: "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." [Orphanet:166277] -subset: gard_rare +subset: gard_rare {source="GARD:10290"} subset: ordo_malformation_syndrome {source="Orphanet:166277"} synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED [GARD:0010290] synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922] synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277] +xref: GARD:10290 {source="Orphanet:166277"} xref: ICD10CM:Q78.8 {source="Orphanet:166277", source="Orphanet:166277/attributed", source="Orphanet:166277/ntbt"} xref: MESH:C565734 {source="MONDO:equivalentTo"} xref: OMIM:604922 {source="Orphanet:166277", source="MONDO:equivalentTo", source="Orphanet:166277/e", source="GARD:0010290"} @@ -227204,6 +232083,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10290/cortic id: MONDO:0011502 name: Wolfram syndrome 2 def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15374"} synonym: "CISD2 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WFS2" EXACT ABBREVIATION [DOID:0110630, MONDO:Lexical, OMIM:604928] synonym: "WOLFRAM syndrome 2" RELATED [OMIM:604928] @@ -227211,6 +232091,7 @@ synonym: "Wolfram syndrome 2" EXACT [MONDO:Lexical, OMIM:604928] synonym: "Wolfram syndrome caused by mutation in CISD2" EXACT [MONDO:design_pattern] synonym: "Wolfram syndrome type 2" EXACT [DOID:0110630, MONDORULE:1, OMIM:604928] xref: DOID:0110630 {source="MONDO:equivalentTo"} +xref: GARD:15374 {source="OMIM:604928"} xref: ICD10CM:E13.8 {source="DOID:0110630"} xref: MESH:C565733 {source="MONDO:equivalentTo"} xref: OMIM:604928 {source="MONDO:equivalentTo", source="DOID:0110630"} @@ -227226,6 +232107,7 @@ property_value: confidence "5.33333333333332" xsd:double id: MONDO:0011503 name: cortisone reductase deficiency 1 def: "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." [NCIT:C131849] +subset: gard_rare {source="GARD:15375"} synonym: "apparent cortisone reductase deficiency" EXACT [PMID:21325058] synonym: "cortisone reductase deficiency 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:604931] synonym: "cortisone reductase deficiency caused by mutation in H6PD" EXACT [MONDO:design_pattern] @@ -227234,6 +232116,7 @@ synonym: "CORTRD1" EXACT ABBREVIATION [DOID:0090141, MONDO:Lexical, OMIM:604931] synonym: "H6PD cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hexose-6-phosphate dehydrogenase deficiency" EXACT [NCIT:C131849] xref: DOID:0090141 {source="MONDO:equivalentTo"} +xref: GARD:15375 {source="OMIM:604931"} xref: NCIT:C131849 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: OMIM:604931 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="OMIM:604931"} @@ -227250,10 +232133,12 @@ property_value: confidence "39.00000000000001" xsd:double id: MONDO:0011504 name: NDE1-related microhydranencephaly def: "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." [Orphanet:443162] +subset: gard_rare {source="GARD:10216"} subset: ordo_malformation_syndrome {source="Orphanet:443162"} synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013] synonym: "MHAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605013, Orphanet:443162] synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013] +xref: GARD:10216 {source="Orphanet:443162"} xref: ICD10CM:Q04.8 {source="Orphanet:443162/attributed", source="Orphanet:443162/ntbt", source="Orphanet:443162"} xref: MESH:C537555 {source="MONDO:equivalentTo"} xref: OMIM:605013 {source="Orphanet:443162/e", source="MONDO:equivalentTo", source="Orphanet:443162"} @@ -227270,6 +232155,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0011505 name: familial hypobetalipoproteinemia 2 def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15376"} synonym: "ANGPTL3 hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "combined familial hypolipidemia" EXACT [DOID:0111061] synonym: "familial hypobetalipoproteinemia 2" EXACT CLINGEN_PREFERRED [] @@ -227280,6 +232166,7 @@ synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical, OMIM:605 synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1, OMIM:605019] synonym: "hypolipidemia, familial, combined" RELATED [OMIM:605019] xref: DOID:0111061 {source="MONDO:equivalentTo"} +xref: GARD:15376 {source="OMIM:605019"} xref: MESH:C565732 {source="MONDO:equivalentTo"} xref: OMIM:605019 {source="DOID:0111061", source="MONDO:equivalentTo"} xref: Orphanet:426 {source="OMIM:605019"} @@ -227292,12 +232179,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011506 name: familial infantile myoclonic epilepsy +subset: gard_rare {source="GARD:17521"} subset: ordo_disease {source="Orphanet:352582"} synonym: "Eim" RELATED [OMIM:605021] synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582] synonym: "FIME" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605021, Orphanet:352582] synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021] synonym: "myoclonic epilepsy, infantile, familial" EXACT [OMIM:605021, OMIM:genemap2] +xref: GARD:17521 {source="Orphanet:352582"} xref: ICD10CM:G40.3 {source="Orphanet:352582", source="Orphanet:352582/attributed", source="Orphanet:352582/ntbt"} xref: OMIM:605021 {source="Orphanet:352582", source="MONDO:equivalentTo", source="Orphanet:352582/e"} xref: Orphanet:352582 {source="MONDO:equivalentTo", source="OMIM:605021"} @@ -227348,7 +232237,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011510 name: Bohring-Opitz syndrome def: "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." [Orphanet:97297] -subset: gard_rare {source="GARD:0010140"} +subset: gard_rare {source="GARD:10140"} subset: ordo_malformation_syndrome {source="Orphanet:97297"} synonym: "Bohring syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "BOHRING-Opitz syndrome" RELATED [OMIM:605039] @@ -227358,6 +232247,7 @@ synonym: "Bos syndrome" EXACT [Orphanet:97297] synonym: "C-like syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297] synonym: "Opitz trigonocephaly-like syndrome" EXACT [OMIM:605039, Orphanet:97297] +xref: GARD:10140 {source="Orphanet:97297"} xref: ICD10CM:Q87.8 {source="Orphanet:97297/attributed", source="Orphanet:97297/ntbt", source="Orphanet:97297"} xref: MESH:C537419 {source="MONDO:equivalentTo"} xref: NCIT:C131533 {source="MONDO:equivalentTo"} @@ -227389,6 +232279,7 @@ id: MONDO:0011512 name: Brooke-Spiegler syndrome def: "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." [Orphanet:79493] comment: Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163). +subset: gard_rare {source="GARD:10179"} subset: ordo_disease {source="Orphanet:79493"} synonym: "Brooke-Spiegler syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:605041] synonym: "BRSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605041] @@ -227396,6 +232287,7 @@ synonym: "Bss" RELATED [OMIM:605041] synonym: "CYLD cutaneous syndrome" EXACT [Orphanet:79493] synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041] xref: DOID:0050693 {source="MONDO:equivalentTo"} +xref: GARD:10179 {source="Orphanet:79493"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536611 {source="Orphanet:79493", source="Orphanet:79493/e"} xref: OMIM:605041 {source="DOID:0050693", source="MONDO:equivalentTo", source="Orphanet:79493", source="Orphanet:79493/e"} @@ -227417,7 +232309,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011513 name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology +subset: gard_rare {source="GARD:16508"} synonym: "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" EXACT [OMIM:605055] +xref: GARD:16508 {source="OMIM:605055"} xref: MESH:C565728 {source="MONDO:equivalentTo"} xref: OMIM:605055 {source="MONDO:equivalentTo"} xref: Orphanet:1020 {source="OMIM:605055"} @@ -227430,6 +232324,7 @@ property_value: confidence "1.7975949917804632" xsd:double id: MONDO:0011514 name: tricuspid atresia def: "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." [Orphanet:1209] +subset: gard_rare {source="GARD:5274"} subset: ordo_morphological_anomaly {source="Orphanet:1209"} synonym: "congenital agenesis of the tricuspid valve" RELATED [GARD:0005274] synonym: "congenital atresia of tricuspid valve" EXACT [NCIT:C85202] @@ -227437,6 +232332,7 @@ synonym: "tricuspid atresia" EXACT [MONDO:ambiguous, OMIM:605067] synonym: "tricuspid atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "tricuspid valve atresia" EXACT [NCIT:C85202] xref: DOID:0080169 {source="MONDO:equivalentTo"} +xref: GARD:5274 {source="Orphanet:1209"} xref: HP:0011662 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q22.4 {source="Orphanet:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"} xref: MedDRA:10049767 {source="Orphanet:1209/e", source="Orphanet:1209"} @@ -227472,12 +232368,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011517 name: pseudohyperaldosteronism type 2 def: "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." [Orphanet:88660] +subset: gard_rare {source="GARD:19093"} subset: ordo_disease {source="Orphanet:88660"} synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [Orphanet:88660] synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [Orphanet:88660] synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [OMIM:605115, OMIM:genemap2] synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115] synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115] +xref: GARD:19093 {source="Orphanet:88660"} xref: ICD10CM:I15.1 {source="Orphanet:88660/attributed", source="Orphanet:88660/ntbt", source="Orphanet:88660"} xref: MESH:C565359 {source="MONDO:equivalentTo"} xref: OMIM:605115 {source="Orphanet:88660/e", source="MONDO:equivalentTo", source="Orphanet:88660"} @@ -227494,7 +232392,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011518 name: Wiedemann-Steiner syndrome def: "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." [https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome] -subset: gard_rare {source="GARD:0005565"} +subset: gard_rare {source="GARD:5565"} subset: ordo_malformation_syndrome {source="Orphanet:319182"} synonym: "A syndrome of abnormal facies, short stature, and psychomotor retardation" RELATED [GARD:0005565] synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [OMIM:605130] @@ -227502,6 +232400,7 @@ synonym: "hypertrichosis-short stature-facial dysmorphism-developmental delay sy synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605130] synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565] synonym: "Wiedemann-Steiner syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:605130] +xref: GARD:5565 {source="Orphanet:319182"} xref: ICD10CM:Q87.1 {source="Orphanet:319182/attributed", source="Orphanet:319182/ntbt", source="Orphanet:319182"} xref: MESH:C536704 {source="MONDO:equivalentTo"} xref: OMIM:605130 {source="Orphanet:319182", source="MONDO:equivalentTo", source="Orphanet:319182/e"} @@ -227520,6 +232419,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5565/wiedema id: MONDO:0011519 name: autosomal dominant nonsyndromic hearing loss 23 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:1708"} synonym: "autosomal dominant deafness 23" NARROW [DOID:0110553] synonym: "autosomal dominant nonsyndromic deafness 23" NARROW [OMIM:605192] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" NARROW [MONDO:design_pattern] @@ -227531,6 +232431,7 @@ synonym: "DFNA 23" NARROW [GARD:0001708] synonym: "DFNA23" NARROW ABBREVIATION [DOID:0110553, MONDO:Lexical, OMIM:605192] synonym: "SIX1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110553 {source="MONDO:equivalentTo"} +xref: GARD:1708 {source="OMIM:605192"} xref: ICD10CM:H90.3 {source="DOID:0110553"} xref: MESH:C565357 {source="MONDO:equivalentTo"} xref: OMIM:605192 {source="MONDO:equivalentTo", source="DOID:0110553"} @@ -227575,6 +232476,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:605225", source="DOID:0110882", source="MES id: MONDO:0011522 name: hereditary spastic paraplegia 14 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28." [DOID:0110767, PMID:10877981] +subset: gard_rare {source="GARD:9589"} subset: ordo_disease {source="Orphanet:100995"} synonym: "autosomal recessive spastic paraplegia 14" EXACT [DOID:0110767] synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767] @@ -227583,6 +232485,7 @@ synonym: "spastic paraplegia 14" EXACT [GARD:0009589] synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM:605229] synonym: "SPG14" EXACT ABBREVIATION [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995] xref: DOID:0110767 {source="MONDO:equivalentTo"} +xref: GARD:9589 {source="Orphanet:100995"} xref: ICD10CM:G11.4 {source="DOID:0110767", source="Orphanet:100995", source="Orphanet:100995/attributed", source="Orphanet:100995/ntbt"} xref: MESH:C537486 {source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} xref: OMIM:605229 {source="DOID:0110767", source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} @@ -227594,11 +232497,12 @@ property_value: confidence "22.611111111111114" xsd:double [Term] id: MONDO:0011523 name: Bardet-Biedl syndrome 6 -subset: gard_rare {source="GARD:0010205"} +subset: gard_rare {source="GARD:10205"} synonym: "Bardet-Biedl syndrome 6" EXACT [MONDO:Lexical, OMIM:605231] synonym: "Bardet-Biedl syndrome type 6" EXACT [DOID:0110128, MONDORULE:1, OMIM:605231] synonym: "BBS6" EXACT ABBREVIATION [DOID:0110128, MONDO:Lexical, OMIM:605231] xref: DOID:0110128 {source="MONDO:equivalentTo"} +xref: GARD:10205 {source="OMIM:605231"} xref: ICD10CM:Q87.89 {source="DOID:0110128"} xref: MESH:C565738 {source="MONDO:equivalentTo"} xref: OMIM:605231 {source="DOID:0110128", source="MONDO:equivalentTo"} @@ -227613,12 +232517,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10205/bardet id: MONDO:0011524 name: Dianzani autoimmune lymphoproliferative disease def: "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." [Orphanet:275523] +subset: gard_rare {source="GARD:9797"} subset: ordo_disease {source="Orphanet:275523"} synonym: "autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [GARD:0009797] synonym: "DALD" EXACT ABBREVIATION [OMIM:605233, Orphanet:275523] synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233] synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797] synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797] +xref: GARD:9797 {source="Orphanet:275523"} xref: ICD10CM:D47.9 {source="Orphanet:275523", source="Orphanet:275523/attributed", source="Orphanet:275523/ntbt"} xref: MESH:C535950 {source="MONDO:equivalentTo"} xref: OMIM:605233 {source="MONDO:equivalentTo", source="Orphanet:275523", source="Orphanet:275523/e"} @@ -227632,10 +232538,12 @@ property_value: confidence "4.277777777777778" xsd:double [Term] id: MONDO:0011525 name: Carney complex type 2 +subset: gard_rare {source="GARD:15377"} synonym: "Carney complex, type 2" EXACT [MONDO:Lexical, OMIM:605244] synonym: "Carney complex, type II" EXACT [OMIM:605244, OMIM:genemap2] synonym: "Carney Myxoma-endocrine Complex, type 2" EXACT [OMIM:605244] synonym: "CNC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605244] +xref: GARD:15377 {source="OMIM:605244"} xref: OMIM:605244 {source="MONDO:equivalentTo"} xref: Orphanet:1359 {source="OMIM:605244"} xref: UMLS:C1413542 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:605244"} @@ -227656,7 +232564,7 @@ id: MONDO:0011527 name: Charcot-Marie-Tooth disease type 4E def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." [Orphanet:99951] comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"} -subset: gard_rare +subset: gard_rare {source="GARD:9203"} subset: ordo_disease {source="Orphanet:99951"} synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951] synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195] @@ -227679,6 +232587,7 @@ synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE" RELATED [OMIM:605253] synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253] xref: DOID:0110195 {source="MONDO:equivalentTo"} +xref: GARD:9203 {source="Orphanet:99951"} xref: ICD10CM:G60.0 {source="Orphanet:99951", source="Orphanet:99951/attributed", source="Orphanet:99951/ntbt", source="DOID:0110195"} xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="Orphanet:99951/e"} xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="Orphanet:99951/e", source="DOID:0110195"} @@ -227696,7 +232605,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6170/congeni id: MONDO:0011528 name: hyper-IgM syndrome type 2 def: "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." [Wikipedia:Hyper-IgM_syndrome_type_2] -subset: gard_rare {source="GARD:0010578"} +subset: gard_rare {source="GARD:10578"} subset: ordo_clinical_subtype {source="Orphanet:101089"} synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089] synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758] @@ -227711,6 +232620,7 @@ synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578] synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758] synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258] xref: DOID:0060758 {source="MONDO:equivalentTo"} +xref: GARD:10578 {source="Orphanet:101089"} xref: ICD10CM:D80.5 {source="Orphanet:101089", source="Orphanet:101089/attributed", source="Orphanet:101089/ntbt", source="DOID:0060758"} xref: NCIT:C129074 {source="MONDO:equivalentTo"} xref: OMIM:605258 {source="Orphanet:101089", source="MONDO:equivalentTo", source="Orphanet:101089/e", source="DOID:0060758"} @@ -227729,6 +232639,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10578/immuno id: MONDO:0011529 name: spinocerebellar ataxia type 13 def: "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." [Orphanet:98768] +subset: gard_rare {source="GARD:9611"} subset: ordo_disease {source="Orphanet:98768"} synonym: "autosomal dominant cerebellar ataxia with intellectual disability" RELATED [GARD:0009611] synonym: "autosomal dominant cerebellar ataxia with mental retardation" RELATED DEPRECATED [GARD:0009611] @@ -227738,6 +232649,7 @@ synonym: "SCA13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605259, Orphanet:98768] synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259] synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259] xref: DOID:0050963 {source="MONDO:equivalentTo"} +xref: GARD:9611 {source="Orphanet:98768"} xref: ICD10CM:G11.2 {source="Orphanet:98768", source="Orphanet:98768/attributed", source="Orphanet:98768/ntbt"} xref: MESH:C537195 {source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"} xref: OMIM:605259 {source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768", source="Orphanet:98768/e"} @@ -227753,13 +232665,14 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0011530 name: mesomelic dysplasia, Savarirayan type def: "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." [Orphanet:85170] -subset: gard_rare {source="GARD:0010584"} +subset: gard_rare {source="GARD:10584"} subset: ordo_malformation_syndrome {source="Orphanet:85170"} synonym: "mesomelic dysplasia Savarirayan type" RELATED [GARD:0010584] synonym: "mesomelic dysplasia with absent fibulas and triangular tibias" EXACT [OMIM:605274, Orphanet:85170] synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274] synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584] synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170] +xref: GARD:10584 {source="Orphanet:85170"} xref: ICD10CM:Q78.8 {source="Orphanet:85170", source="Orphanet:85170/attributed", source="Orphanet:85170/ntbt"} xref: MESH:C565349 {source="MONDO:equivalentTo"} xref: OMIM:605274 {source="MONDO:equivalentTo", source="Orphanet:85170", source="Orphanet:85170/e"} @@ -227778,7 +232691,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10584/mesome [Term] id: MONDO:0011531 name: Noonan syndrome 2 -subset: gard_rare {source="GARD:0010698"} +subset: gard_rare {source="GARD:10698"} synonym: "autosomal recessive Noonan syndrome" RELATED [GARD:0010698] synonym: "Noonan syndrome 2" EXACT [MONDO:Lexical, OMIM:605275] synonym: "Noonan syndrome autosomal recessive" RELATED [GARD:0010698] @@ -227786,6 +232699,7 @@ synonym: "Noonan syndrome type 2" EXACT [DOID:0060580, MONDORULE:1, OMIM:605275] synonym: "Noonan syndrome, autosomal recessive" RELATED [OMIM:605275] synonym: "NS2" EXACT ABBREVIATION [DOID:0060580, MONDO:Lexical, OMIM:605275] xref: DOID:0060580 {source="MONDO:equivalentTo"} +xref: GARD:10698 {source="OMIM:605275"} xref: MESH:C548081 {source="MONDO:equivalentTo"} xref: NCIT:C176930 {source="MONDO:equivalentTo"} xref: OMIM:605275 {source="MONDO:equivalentTo", source="DOID:0060580"} @@ -227799,6 +232713,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10698/noonan id: MONDO:0011532 name: hereditary spastic paraplegia 13 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9616"} subset: ordo_disease {source="Orphanet:100994"} synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766] synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994] @@ -227809,6 +232724,7 @@ synonym: "spastic paraplegia 13" RELATED [GARD:0009616] synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280] synonym: "SPG13" EXACT ABBREVIATION [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994] xref: DOID:0110766 {source="MONDO:equivalentTo"} +xref: GARD:9616 {source="Orphanet:100994"} xref: ICD10CM:G11.4 {source="Orphanet:100994/attributed", source="Orphanet:100994/ntbt", source="DOID:0110766", source="Orphanet:100994"} xref: MESH:C537485 {source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} @@ -227824,7 +232740,7 @@ property_value: confidence "22.333333333333332" xsd:double id: MONDO:0011533 name: temtamy preaxial brachydactyly syndrome def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." [DOID:0050814, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, PMID:21129728] -subset: gard_rare {source="GARD:0009679"} +subset: gard_rare {source="GARD:9679"} subset: ordo_malformation_syndrome {source="Orphanet:363417"} synonym: "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED [GARD:0009679] synonym: "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED DEPRECATED [GARD:0009679] @@ -227834,6 +232750,7 @@ synonym: "TEMTAMY preaxial brachydactyly syndrome" RELATED [OMIM:605282] synonym: "temtamy preaxial brachydactyly syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:605282] synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605282] xref: DOID:0050814 {source="MONDO:equivalentTo"} +xref: GARD:9679 {source="Orphanet:363417"} xref: ICD10CM:Q87.2 {source="Orphanet:363417/attributed", source="Orphanet:363417/ntbt", source="Orphanet:363417"} xref: MESH:C536958 {source="MONDO:equivalentTo"} xref: OMIM:605282 {source="Orphanet:363417/e", source="MONDO:equivalentTo", source="DOID:0050814", source="Orphanet:363417"} @@ -227858,6 +232775,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9679/temtamy id: MONDO:0011534 name: Charcot-Marie-Tooth disease type 4G def: "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." [Orphanet:99953] +subset: gard_rare {source="GARD:10132"} subset: ordo_disease {source="Orphanet:99953"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern] @@ -227872,6 +232790,7 @@ synonym: "HK1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, M synonym: "HMSNR" EXACT ABBREVIATION [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953] synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285] xref: DOID:0110196 {source="MONDO:equivalentTo"} +xref: GARD:10132 {source="Orphanet:99953"} xref: ICD10CM:G60.0 {source="Orphanet:99953", source="Orphanet:99953/attributed", source="Orphanet:99953/ntbt", source="DOID:0110196"} xref: MESH:C535813 {source="MONDO:equivalentTo"} xref: OMIM:605285 {source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196", source="Orphanet:99953/e"} @@ -227892,6 +232811,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011535 name: split hand-foot malformation 4 def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15378"} synonym: "SHFM4" EXACT ABBREVIATION [DOID:0090023, MONDO:Lexical, OMIM:605289] synonym: "split hand-foot malformation caused by mutation in TP63" EXACT [MONDO:design_pattern] synonym: "split hand-foot malformation type 4" EXACT [DOID:0090023, MONDORULE:1] @@ -227899,6 +232819,7 @@ synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical, OMIM:605289] synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1, OMIM:605289] synonym: "TP63 split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090023 {source="MONDO:equivalentTo"} +xref: GARD:15378 {source="OMIM:605289"} xref: ICD10CM:Q71.6 {source="DOID:0090023"} xref: MESH:C565344 {source="MONDO:equivalentTo"} xref: OMIM:605289 {source="DOID:0090023", source="MONDO:equivalentTo"} @@ -227915,9 +232836,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011536 name: optic atrophy 4 +subset: gard_rare {source="GARD:15379"} synonym: "OPA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605293] synonym: "optic atrophy 4" EXACT [MONDO:Lexical, OMIM:605293] xref: DOID:0111440 {source="MONDO:equivalentTo"} +xref: GARD:15379 {source="OMIM:605293"} xref: MESH:C565343 {source="MONDO:equivalentTo"} xref: OMIM:605293 {source="MONDO:equivalentTo"} xref: Orphanet:98673 {source="OMIM:605293"} @@ -227929,10 +232852,12 @@ property_value: confidence "12.182750000000004" xsd:double id: MONDO:0011537 name: macrocephaly-autism syndrome def: "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." [DOID:0060867, PMID:15805158, PMID:1719811] +subset: gard_rare {source="GARD:17112"} subset: ordo_disease {source="Orphanet:210548"} synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867] synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309] xref: DOID:0060867 {source="MONDO:equivalentTo"} +xref: GARD:17112 {source="Orphanet:210548"} xref: MESH:C565342 {source="MONDO:equivalentTo"} xref: OMIM:605309 {source="Orphanet:210548/e", source="MONDO:equivalentTo", source="DOID:0060867", source="Orphanet:210548"} xref: Orphanet:210548 {source="MONDO:equivalentTo", source="OMIM:605309", source="DOID:0060867"} @@ -227958,6 +232883,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011539 name: nemaline myopathy 5 def: "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." [Orphanet:98902] +subset: gard_rare {source="GARD:8334"} subset: ordo_disease {source="Orphanet:98902"} synonym: "Amish nemaline myopathy" EXACT [DOID:0110936] synonym: "ANM" EXACT ABBREVIATION [DOID:0110936] @@ -227970,6 +232896,7 @@ synonym: "nemaline myopathy, Amish type" RELATED [OMIM:605355] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334] synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110936 {source="MONDO:equivalentTo"} +xref: GARD:8334 {source="Orphanet:98902"} xref: ICD10CM:G71.2 {source="Orphanet:98902", source="Orphanet:98902/attributed", source="Orphanet:98902/ntbt"} xref: MESH:C538397 {source="MONDO:equivalentTo"} xref: OMIM:605355 {source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902", source="Orphanet:98902/e"} @@ -227986,11 +232913,13 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0011540 name: spinocerebellar ataxia type 14 def: "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." [Orphanet:98763] +subset: gard_rare {source="GARD:9867"} subset: ordo_disease {source="Orphanet:98763"} synonym: "SCA14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605361, Orphanet:98763] synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361] synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361] xref: DOID:0050964 {source="MONDO:equivalentTo"} +xref: GARD:9867 {source="Orphanet:98763"} xref: ICD10CM:G11.2 {source="Orphanet:98763", source="Orphanet:98763/attributed", source="Orphanet:98763/ntbt"} xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="Orphanet:98763/e"} @@ -228006,6 +232935,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0011541 name: dilated cardiomyopathy 1J def: "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." [Orphanet:217622] +subset: gard_rare {source="GARD:17128"} subset: ordo_disease {source="Orphanet:217622"} synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [DOID:0110440] synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical, OMIM:605362] @@ -228021,6 +232951,7 @@ synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:011 synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] xref: DOID:0110440 {source="MONDO:equivalentTo"} +xref: GARD:17128 {source="Orphanet:217622"} xref: MESH:C565337 {source="MONDO:equivalentTo"} xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="Orphanet:217622/e", source="DOID:0110440"} xref: Orphanet:217622 {source="MONDO:equivalentTo", source="DOID:0110440", source="OMIM:605362"} @@ -228068,7 +232999,7 @@ consider: MONDO:0016419 id: MONDO:0011544 name: paragangliomas 3 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010545"} +subset: gard_rare {source="GARD:10545"} synonym: "glomus tumors, familial, 3" RELATED [OMIM:605373] synonym: "paraganglioma caused by mutation in SDHC" EXACT [MONDO:design_pattern] synonym: "paragangliomas 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:605373] @@ -228076,6 +233007,7 @@ synonym: "paragangliomas type 3" EXACT [MONDORULE:1, OMIM:605373] synonym: "PGL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605373] synonym: "SDHC paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)" RELATED [GARD:0010545] +xref: GARD:10545 {source="OMIM:605373"} xref: MESH:C565335 {source="MONDO:equivalentTo"} xref: OMIM:605373 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:605373"} @@ -228092,6 +233024,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10545/paraga id: MONDO:0011545 name: autosomal dominant nocturnal frontal lobe epilepsy 3 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15380"} synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [DOID:0060684, MONDORULE:1] synonym: "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -228100,6 +233033,7 @@ synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical, OMIM:6053 synonym: "epilepsy, nocturnal frontal lobe, type 3" EXACT [MONDORULE:1, OMIM:605375] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [DOID:0060684] xref: DOID:0060684 {source="MONDO:equivalentTo"} +xref: GARD:15380 {source="OMIM:605375"} xref: MESH:C565334 {source="MONDO:equivalentTo"} xref: OMIM:605375 {source="DOID:0060684", source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="OMIM:605375"} @@ -228158,7 +233092,6 @@ property_value: confidence "3.3019579861886594" xsd:double [Term] id: MONDO:0011548 name: cerebral palsy, ataxic, autosomal recessive -subset: gard_rare synonym: "Acp" RELATED [OMIM:605388] synonym: "ataxic cerebral palsy" RELATED [GARD:0010451, OMIM:605388] synonym: "cerebral palsy ataxic" RELATED [GARD:0010451] @@ -228209,6 +233142,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011551 name: TH-deficient dopa-responsive dystonia def: "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." [Orphanet:101150] +subset: gard_rare {source="GARD:1902"} subset: ordo_disease {source="Orphanet:101150"} synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "autosomal recessive Segawa syndrome" EXACT [Orphanet:101150] @@ -228222,6 +233156,7 @@ synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [OMIM:605407] synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407] synonym: "Segawa syndrome, recessive" EXACT [OMIM:605407, OMIM:genemap2] synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150] +xref: GARD:1902 {source="Orphanet:101150"} xref: ICD10CM:G24.1 {source="Orphanet:101150/attributed", source="Orphanet:101150/ntbt", source="Orphanet:101150"} xref: OMIM:605407 {source="Orphanet:101150/e", source="MONDO:equivalentTo", source="Orphanet:101150"} xref: Orphanet:101150 {source="MONDO:equivalentTo", source="OMIM:605407"} @@ -228258,12 +233193,14 @@ is_a: MONDO:0005090 {source="DC-OMIM:605419", source="DOID:0070086"} ! schizophr id: MONDO:0011553 name: autosomal recessive nonsyndromic hearing loss 26 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." [DOID:0110484, PMID:11101839] +subset: gard_rare {source="GARD:22599"} synonym: "autosomal recessive deafness 26" NARROW [DOID:0110484] synonym: "autosomal recessive nonsyndromic deafness 26" NARROW [OMIM:605428] synonym: "autosomal recessive nonsyndromic deafness type 26" NARROW [DOID:0110484, MONDORULE:2] synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical, OMIM:605428, OMIM:genemap2] synonym: "DFNB26" NARROW ABBREVIATION [DOID:0110484, MONDO:Lexical, OMIM:605428] xref: DOID:0110484 {source="MONDO:equivalentTo"} +xref: GARD:22599 {source="OMIM:605428"} xref: ICD10CM:H90.3 {source="DOID:0110484"} xref: MESH:C565329 {source="MONDO:equivalentTo"} xref: OMIM:605428 {source="MONDO:equivalentTo", source="DOID:0110484"} @@ -228294,10 +233231,12 @@ is_obsolete: true id: MONDO:0011555 name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome def: "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." [Orphanet:71289] +subset: gard_rare {source="GARD:16687"} subset: ordo_malformation_syndrome {source="Orphanet:71289"} synonym: "ATRUS syndrome" EXACT [Orphanet:71289] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432] synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605432] +xref: GARD:16687 {source="Orphanet:71289"} xref: ICD10CM:Q87.2 {source="Orphanet:71289/attributed", source="Orphanet:71289/ntbt", source="Orphanet:71289"} xref: MESH:C565328 {source="MONDO:equivalentTo"} xref: OMIMPS:605432 {source="MONDO:equivalentTo"} @@ -228346,7 +233285,7 @@ is_a: MONDO:0005559 {source="MESH:C565326", source="MONDO:Redundant"} ! neurodeg id: MONDO:0011558 name: Usher syndrome type 2C def: "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." [OMIM:605472] -subset: gard_rare {source="GARD:0008497"} +subset: gard_rare {source="GARD:8497"} synonym: "USH2C" EXACT ABBREVIATION [DOID:0110839, MONDO:Lexical, OMIM:605472] synonym: "Usher syndrome type IIC" EXACT [DOID:0110839] synonym: "Usher syndrome, type 2C" RELATED [GARD:0008497] @@ -228358,6 +233297,7 @@ synonym: "USHER syndrome, type IIC" RELATED [MONDO:Lexical, OMIM:605472] synonym: "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2] synonym: "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic" RELATED [OMIM:605472] xref: DOID:0110839 {source="MONDO:equivalentTo"} +xref: GARD:8497 {source="OMIM:605472"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110839"} xref: MESH:C536492 {source="MONDO:equivalentTo"} xref: NCIT:C153174 {source="MONDO:equivalentTo"} @@ -228378,7 +233318,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8497/usher-s [Term] id: MONDO:0011559 name: benign recurrent intrahepatic cholestasis type 2 -subset: gard_rare +subset: gard_rare {source="GARD:10029"} subset: ordo_clinical_subtype {source="Orphanet:99961"} synonym: "benign recurrent intrahepatic cholestasis 2" RELATED [GARD:0010029] synonym: "Bric type 2" EXACT [DOID:0070232, Orphanet:99961] @@ -228389,6 +233329,7 @@ synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1 synonym: "mild ABCB11 deficiency" RELATED [GARD:0010029] synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029] xref: DOID:0070232 {source="MONDO:equivalentTo"} +xref: GARD:10029 {source="Orphanet:99961"} xref: ICD10CM:K83.1 {source="Orphanet:99961", source="Orphanet:99961/attributed", source="Orphanet:99961/ntbt"} xref: MESH:C535931 {source="Orphanet:99961", source="Orphanet:99961/e"} xref: MESH:C535934 {source="MONDO:equivalentTo"} @@ -228419,6 +233360,7 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0011561 name: Alzheimer disease 6 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." [DOID:0110038, PMID:16385451] +subset: gard_rare {source="GARD:16509"} synonym: "AD6" EXACT ABBREVIATION [DOID:0110038, OMIM:605526] synonym: "Alzheimer disease 6" EXACT [DOID:0110038, OMIM:605526] synonym: "Alzheimer disease 6, late onset" EXACT [DOID:0110038] @@ -228428,6 +233370,7 @@ synonym: "Alzheimer's disease 6" EXACT [doi:10.1093/jama/9780195176339.003.0016, synonym: "Alzheimer's disease type 6" EXACT [DOID:0110038, MONDORULE:1] synonym: "plasma Beta-amyloid-42 level quantitative trait locus" RELATED [OMIM:605526] xref: DOID:0110038 {source="MONDO:equivalentTo"} +xref: GARD:16509 {source="OMIM:605526"} xref: ICD10CM:G30 {source="DOID:0110038"} xref: MESH:C565325 {source="MONDO:equivalentTo"} xref: OMIM:605526 {source="DOID:0110038", source="MONDO:equivalentTo"} @@ -228441,6 +233384,7 @@ property_value: confidence "1.7975949917804632" xsd:double id: MONDO:0011562 name: autosomal dominant Parkinson disease 4 def: "A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22." [DOID:0060895, PMID:14755720, PMID:17251522] +subset: gard_rare {source="GARD:18475"} synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [DOID:0060895] synonym: "autosomal dominant Parkinson disease 4" EXACT CLINGEN_PREFERRED [] synonym: "autosomal dominant Parkinson disease type 4" EXACT [DOID:0060895, MONDORULE:1] @@ -228449,6 +233393,7 @@ synonym: "PARK4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605543] synonym: "Parkinson disease 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605543] synonym: "Parkinson disease 4, autosomal dominant Lewy body" RELATED [OMIM:605543] xref: DOID:0060895 {source="MONDO:equivalentTo"} +xref: GARD:18475 {source="OMIM:605543"} xref: ICD10CM:G20 {source="DOID:0060895"} xref: MESH:C565324 {source="MONDO:equivalentTo"} xref: OMIM:605543 {source="DOID:0060895", source="MONDO:equivalentTo"} @@ -228463,6 +233408,7 @@ property_value: confidence "0.3096492687679333" xsd:double [Term] id: MONDO:0011563 name: fibromatosis, gingival, 2 +subset: gard_rare {source="GARD:2474"} synonym: "fibromatosis gingival, hereditary, 2" RELATED [GARD:0002474] synonym: "fibromatosis, gingival, 2" EXACT [MONDO:Lexical, OMIM:605544] synonym: "fibromatosis, gingival, hereditary, 2" RELATED [OMIM:605544] @@ -228471,6 +233417,7 @@ synonym: "GINGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605544] synonym: "gingival fibromatosis, 2" RELATED [GARD:0002474] synonym: "hereditary gingival fibromatosis, 2" RELATED [GARD:0002474] synonym: "HGF2" RELATED ABBREVIATION [GARD:0002474] +xref: GARD:2474 {source="OMIM:605544"} xref: MESH:C565323 {source="MONDO:equivalentTo"} xref: OMIM:605544 {source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="OMIM:605544"} @@ -228482,10 +233429,12 @@ property_value: confidence "0.35666802333468994" xsd:double id: MONDO:0011564 name: cone-rod dystrophy 8 def: "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24." [DOID:0111014, PMID:11053266] +subset: gard_rare {source="GARD:15381"} synonym: "cone-rod dystrophy 8" EXACT [MONDO:Lexical, OMIM:605549] synonym: "cone-rod dystrophy type 8" EXACT [DOID:0111014, MONDORULE:1] synonym: "CORD8" EXACT ABBREVIATION [DOID:0111014, MONDO:Lexical, OMIM:605549] xref: DOID:0111014 {source="MONDO:equivalentTo"} +xref: GARD:15381 {source="OMIM:605549"} xref: MESH:C565322 {source="MONDO:equivalentTo"} xref: OMIM:605549 {source="MONDO:equivalentTo", source="DOID:0111014"} xref: UMLS:C1854180 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605549"} @@ -228537,10 +233486,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011567 name: dilated cardiomyopathy 1K def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." [DOID:0110437, PMID:11085912] +subset: gard_rare {source="GARD:15382"} synonym: "cardiomyopathy, dilated, 1K" RELATED [MONDO:Lexical, OMIM:605582] synonym: "CMD1K" EXACT ABBREVIATION [DOID:0110437, MONDO:Lexical, OMIM:605582] synonym: "dilated cardiomyopathy type 1K" EXACT [DOID:0110437, MONDORULE:4] xref: DOID:0110437 {source="MONDO:equivalentTo"} +xref: GARD:15382 {source="OMIM:605582"} xref: ICD10CM:I42.0 {source="DOID:0110437"} xref: MESH:C565320 {source="MONDO:equivalentTo"} xref: OMIM:605582 {source="DOID:0110437", source="MONDO:equivalentTo"} @@ -228553,6 +233504,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0011568 name: autosomal dominant nonsyndromic hearing loss 25 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18112"} synonym: "autosomal dominant deafness 25" NARROW [DOID:0110555] synonym: "autosomal dominant nonsyndromic deafness 25" NARROW [OMIM:605583] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" NARROW [MONDO:design_pattern] @@ -228562,6 +233514,7 @@ synonym: "deafness, autosomal dominant type 25" NARROW [MONDORULE:2, OMIM:605583 synonym: "DFNA25" NARROW ABBREVIATION [DOID:0110555, MONDO:Lexical, OMIM:605583] synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110555 {source="MONDO:equivalentTo"} +xref: GARD:18112 {source="OMIM:605583"} xref: ICD10CM:H90.3 {source="DOID:0110555"} xref: MESH:C565319 {source="MONDO:equivalentTo"} xref: OMIM:605583 {source="DOID:0110555", source="MONDO:equivalentTo"} @@ -228578,7 +233531,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011569 name: Charcot-Marie-Tooth disease type 2B1 def: "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:98856] -subset: gard_rare {source="GARD:0008548"} +subset: gard_rare {source="GARD:8548"} subset: ordo_disease {source="Orphanet:98856"} synonym: "AR-CMT2B1" EXACT [Orphanet:98856] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156] @@ -228598,6 +233551,7 @@ synonym: "CMT 2B1" RELATED [GARD:0008548] synonym: "CMT2B1" EXACT ABBREVIATION [DOID:0110156, MONDO:Lexical, OMIM:605588] synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110156 {source="MONDO:equivalentTo"} +xref: GARD:8548 {source="Orphanet:98856"} xref: ICD10CM:G60.0 {source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/attributed", source="Orphanet:98856/ntbt"} xref: MESH:C537990 {source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"} xref: OMIM:605588 {source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/e"} @@ -228618,7 +233572,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8548/charcot id: MONDO:0011570 name: Charcot-Marie-Tooth disease type 2B2 def: "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." [Orphanet:101101] -subset: gard_rare {source="GARD:0001249"} +subset: gard_rare {source="GARD:1249"} subset: ordo_disease {source="Orphanet:101101"} synonym: "AR-CMT2B2" EXACT [DOID:0110179, Orphanet:101101] synonym: "ARCMT2B" EXACT ABBREVIATION [DOID:0110179] @@ -228640,6 +233594,7 @@ synonym: "CMT 2B2" RELATED [GARD:0001249] synonym: "CMT2B2" EXACT ABBREVIATION [DOID:0110179, MONDO:Lexical, OMIM:605589] synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110179 {source="MONDO:equivalentTo"} +xref: GARD:1249 {source="Orphanet:101101"} xref: ICD10CM:G60.0 {source="Orphanet:101101/attributed", source="Orphanet:101101/ntbt", source="Orphanet:101101", source="DOID:0110179"} xref: MESH:C537991 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e"} xref: OMIM:605589 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e", source="DOID:0110179"} @@ -228658,12 +233613,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1249/charcot [Term] id: MONDO:0011571 name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +subset: gard_rare {source="GARD:15383"} synonym: "deafness, autosomal dominant 39, with dentinogenesis" NARROW [OMIM:605594, OMIM:genemap2] synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" EXACT [OMIM:605594] synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:605594] synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [OMIM:605594] synonym: "Dfna39/Dgi1 syndrome" RELATED [OMIM:605594] synonym: "Dgi1/Dfna39 syndrome" RELATED [OMIM:605594] +xref: GARD:15383 {source="OMIM:605594"} xref: MESH:C565316 {source="MONDO:equivalentTo"} xref: OMIM:605594 {source="MONDO:equivalentTo"} xref: Orphanet:166260 {source="OMIM:605594"} @@ -228722,9 +233679,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011575 name: cerebrooculonasal syndrome def: "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." [Orphanet:66625] -subset: gard_rare {source="GARD:0003480"} +subset: gard_rare {source="GARD:3480"} subset: ordo_malformation_syndrome {source="Orphanet:66625"} synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627] +xref: GARD:3480 {source="Orphanet:66625"} xref: ICD10CM:Q87.0 {source="Orphanet:66625/attributed", source="Orphanet:66625/ntbt", source="Orphanet:66625"} xref: MESH:C565313 {source="MONDO:equivalentTo"} xref: OMIM:605627 {source="Orphanet:66625", source="MONDO:equivalentTo", source="Orphanet:66625/e"} @@ -228742,6 +233700,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3480/cerebro id: MONDO:0011576 name: familial hyperaldosteronism type II def: "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." [Orphanet:404] +subset: gard_rare {source="GARD:2789"} subset: ordo_disease {source="Orphanet:404"} synonym: "familial adrenal adenoma" EXACT [Orphanet:404] synonym: "familial hyperaldosteronism type 2" EXACT [Orphanet:404] @@ -228751,6 +233710,7 @@ synonym: "FH2" EXACT ABBREVIATION [Orphanet:404] synonym: "FHII" RELATED ABBREVIATION [GARD:0002789] synonym: "HALD2" RELATED ABBREVIATION [OMIM:605635] synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635] +xref: GARD:2789 {source="Orphanet:404"} xref: ICD10CM:E26.0 {source="Orphanet:404/inclusion", source="Orphanet:404/ntbt", source="Orphanet:404"} xref: MESH:C565312 {source="MONDO:equivalentTo"} xref: NCIT:C127162 {source="MONDO:equivalentTo"} @@ -228789,11 +233749,13 @@ id: MONDO:0011578 name: familial papillary thyroid carcinoma with renal papillary neoplasia def: "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." [Orphanet:97290] comment: Editor note: check MONDO:0000201 thyroid cancer, nonmedullary +subset: gard_rare {source="GARD:16853"} subset: ordo_disease {source="Orphanet:97290"} synonym: "Prn1" RELATED [OMIM:605642] synonym: "ptc-RCC" EXACT [Orphanet:97290] synonym: "Ptcprn" RELATED [OMIM:605642] synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642] +xref: GARD:16853 {source="Orphanet:97290"} xref: ICD10CM:C64 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} xref: ICD10CM:C73 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} xref: MESH:C565310 {source="MONDO:equivalentTo"} @@ -228808,6 +233770,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0011579 name: late-onset retinal degeneration def: "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." [Orphanet:67042] +subset: gard_rare {source="GARD:4357"} subset: ordo_disease {source="Orphanet:67042"} synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042] synonym: "late-onset retinal degeneration" EXACT [MONDO:Lexical, OMIM:605670] @@ -228815,6 +233778,7 @@ synonym: "LORD" EXACT ABBREVIATION [DOID:0060869, MONDO:Lexical, OMIM:605670, Or synonym: "pigmentary retinopathy" RELATED [GARD:0004357] synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:605670] xref: DOID:0060869 {source="MONDO:equivalentTo"} +xref: GARD:4357 {source="Orphanet:67042"} xref: MESH:C565309 {source="MONDO:equivalentTo"} xref: OMIM:605670 {source="MONDO:equivalentTo", source="Orphanet:67042", source="DOID:0060869", source="Orphanet:67042/e"} xref: Orphanet:67042 {source="MONDO:equivalentTo", source="OMIM:605670", source="DOID:0060869"} @@ -228828,7 +233792,9 @@ property_value: confidence "6.499999999999997" xsd:double [Term] id: MONDO:0011580 name: cerebellar ataxia and hypergonadotropic hypogonadism +subset: gard_rare {source="GARD:15384"} synonym: "cerebellar ataxia and hypergonadotropic hypogonadism" EXACT [OMIM:605672] +xref: GARD:15384 {source="OMIM:605672"} xref: MESH:C565308 {source="MONDO:equivalentTo"} xref: OMIM:605672 {source="MONDO:equivalentTo"} xref: Orphanet:1173 {source="OMIM:605672"} @@ -228840,7 +233806,7 @@ property_value: confidence "2.559090909090909" xsd:double id: MONDO:0011581 name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma def: "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." [https://clinicalgenome.org/affiliation/40003/] -subset: gard_rare {source="GARD:0005595"} +subset: gard_rare {source="GARD:5595"} subset: ordo_disease {source="Orphanet:65282"} synonym: "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" EXACT CLINGEN_PREFERRED [] synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED OMO:0003005 [] @@ -228867,6 +233833,7 @@ synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrom synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] synonym: "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] xref: DOID:0090128 {source="MONDO:equivalentTo"} +xref: GARD:5595 {source="Orphanet:65282"} xref: MESH:C535581 {source="MONDO:equivalentTo"} xref: OMIM:605676 {source="MONDO:equivalentTo", source="Orphanet:65282", source="DOID:0090128", source="Orphanet:65282/e"} xref: Orphanet:65282 {source="OMIM:605676", source="MONDO:equivalentTo"} @@ -228889,6 +233856,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5595/cardiom id: MONDO:0011582 name: multiple mitochondrial dysfunctions syndrome 1 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17661"} subset: ordo_disease {source="Orphanet:401869"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern] synonym: "Mmds" BROAD [OMIM:605711] @@ -228898,6 +233866,7 @@ synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:00801 synonym: "NFU1 deficiency" EXACT [Orphanet:401869] synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080133 {source="MONDO:equivalentTo"} +xref: GARD:17661 {source="Orphanet:401869"} xref: ICD10CM:E88.8 {source="Orphanet:401869", source="Orphanet:401869/attributed", source="Orphanet:401869/ntbt"} xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="Orphanet:401869", source="Orphanet:401869/e"} xref: Orphanet:289573 {source="OMIM:605711"} @@ -228951,6 +233920,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011584 name: Fanconi anemia complementation group D1 def: "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." [Orphanet:319462] +subset: gard_rare {source="GARD:17449"} subset: ordo_disease {source="Orphanet:319462"} synonym: "FAD1" EXACT ABBREVIATION [DOID:0111089] synonym: "Fad1" RELATED [OMIM:605724] @@ -228959,6 +233929,7 @@ synonym: "Fanconi anemia complementation group D1" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical, OMIM:605724] synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [Orphanet:319462] xref: DOID:0111089 {source="MONDO:equivalentTo"} +xref: GARD:17449 {source="Orphanet:319462"} xref: MESH:C563980 {source="MONDO:equivalentTo"} xref: NCIT:C125705 {source="MONDO:equivalentTo"} xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="DOID:0111089", source="Orphanet:319462/e"} @@ -228973,6 +233944,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0011585 name: autosomal recessive distal spinal muscular atrophy 2 def: "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." [Orphanet:139552] +subset: gard_rare {source="GARD:10133"} subset: ordo_disease {source="Orphanet:139552"} synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [DOID:0111065, MONDORULE:1, Orphanet:139552] synonym: "dHMNJ" EXACT [DOID:0111065, Orphanet:139552] @@ -228990,6 +233962,7 @@ synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MOND synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:605726] synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726] xref: DOID:0111065 {source="MONDO:equivalentTo"} +xref: GARD:10133 {source="Orphanet:139552"} xref: ICD10CM:G12.2 {source="DOID:0111065", source="Orphanet:139552/attributed", source="Orphanet:139552/ntbt", source="Orphanet:139552"} xref: MESH:C535715 {source="MONDO:equivalentTo"} xref: OMIM:605726 {source="Orphanet:139552/e", source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552"} @@ -229016,6 +233989,7 @@ is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMI id: MONDO:0011587 name: cataract 25 def: "A cataract that has material basis in variation in the region 15q21-q22." [DOID:0110254, PMID:11133359] +subset: gard_rare {source="GARD:18232"} synonym: "cataract 25" EXACT [MONDO:Lexical, OMIM:605728] synonym: "cataract type 25" EXACT [DOID:0110254, MONDORULE:2] synonym: "cataract, central pouch-like, with sutural opacities" RELATED [OMIM:605728] @@ -229026,6 +234000,7 @@ synonym: "central saccular cataract with sutural opacities" EXACT [DOID:0110254] synonym: "CTRCT25" EXACT ABBREVIATION [DOID:0110254, MONDO:Lexical, OMIM:605728] synonym: "early-onset cataract with Y-shaped suture opacities" RELATED EXCLUDE [DOID:0110254] xref: DOID:0110254 {source="MONDO:equivalentTo"} +xref: GARD:18232 {source="OMIM:605728"} xref: ICD10CM:Q12.0 {source="DOID:0110254"} xref: MESH:C565301 {source="MONDO:equivalentTo"} xref: OMIM:605728 {source="MONDO:equivalentTo", source="DOID:0110254"} @@ -229062,9 +234037,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare [Term] id: MONDO:0011589 name: microphthalmia with coloboma 2 +subset: gard_rare {source="GARD:15385"} synonym: "MCOPCB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605738] synonym: "microphthalmia, colobomatous, isolated 2" RELATED [OMIM:605738] synonym: "microphthalmia, isolated, with coloboma 2" RELATED [MONDO:Lexical, OMIM:605738] +xref: GARD:15385 {source="OMIM:605738"} xref: MESH:C565300 {source="MONDO:equivalentTo"} xref: OMIM:605738 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:605738"} @@ -229102,9 +234079,11 @@ property_value: confidence "3.3019579861886594" xsd:double [Term] id: MONDO:0011592 name: exudative vitreoretinopathy 3 +subset: gard_rare {source="GARD:15386"} synonym: "EVR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605750] synonym: "exudative vitreoretinopathy 3" EXACT [MONDO:Lexical, OMIM:605750] xref: DOID:0111409 {source="MONDO:equivalentTo"} +xref: GARD:15386 {source="OMIM:605750"} xref: MESH:C565297 {source="MONDO:equivalentTo"} xref: OMIM:605750 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:605750"} @@ -229115,11 +234094,13 @@ property_value: confidence "0.9347826086956526" xsd:double [Term] id: MONDO:0011593 name: seizures, benign familial infantile, 2 +subset: gard_rare {source="GARD:16504"} synonym: "BFIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605751] synonym: "convulsions, benign familial infantile, 2" RELATED [OMIM:605751] synonym: "seizures, benign familial infantile, 2" EXACT [MONDO:Lexical, OMIM:605751] synonym: "seizures, benign familial infantile, type 2" EXACT [MONDORULE:1, OMIM:605751] xref: DOID:0081115 {source="MONDO:equivalentTo"} +xref: GARD:16504 {source="OMIM:605751"} xref: MESH:C565296 {source="MONDO:equivalentTo"} xref: OMIM:605751 {source="MONDO:equivalentTo"} xref: Orphanet:306 {source="OMIM:605751"} @@ -229139,6 +234120,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011595 name: nonsyndromic congenital nail disorder 7 comment: Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 +subset: gard_rare {source="GARD:9761"} subset: ordo_disease {source="Orphanet:79144"} synonym: "COIF" EXACT ABBREVIATION [Orphanet:79144] synonym: "COIF syndrome" EXACT [Orphanet:79144] @@ -229153,6 +234135,7 @@ synonym: "NDNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605779] synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MONDORULE:1] synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779] xref: DOID:0080085 {source="MONDO:equivalentTo"} +xref: GARD:9761 {source="Orphanet:79144"} xref: ICD10CM:Q84.6 {source="Orphanet:79144", source="Orphanet:79144/attributed", source="Orphanet:79144/ntbt"} xref: MESH:C538333 {source="MONDO:equivalentTo"} xref: OMIM:605779 {source="Orphanet:79144/e", source="DOID:0080085", source="MONDO:equivalentTo", source="Orphanet:79144"} @@ -229233,7 +234216,7 @@ id: MONDO:0011599 name: birdshot chorioretinopathy def: "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." [Orphanet:179] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) -subset: gard_rare {source="GARD:0005926"} +subset: gard_rare {source="GARD:5926"} subset: ordo_disease {source="Orphanet:179"} synonym: "birdshot chorioretinitis" EXACT [DOID:0111079, Orphanet:179] synonym: "birdshot chorioretinopathy" EXACT [OMIM:605808] @@ -229245,6 +234228,7 @@ synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926] synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] xref: DOID:0111079 {source="MONDO:equivalentTo"} +xref: GARD:5926 {source="Orphanet:179"} xref: ICD10CM:H30.1 {source="Orphanet:179/ntbt", source="DOID:0111079", source="Orphanet:179"} xref: MESH:C537630 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: OMIM:605808 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} @@ -229262,6 +234246,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5926/birdsho id: MONDO:0011600 name: congenital myasthenic syndrome 4A def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." [DOID:0110678, PMID:12141316, PMID:25792100, PMID:7531341] +subset: gard_rare {source="GARD:15387"} synonym: "CMS Ia1" EXACT [DOID:0110678] synonym: "Cms Ia1" RELATED [OMIM:605809] synonym: "Cms Ia1, formerly" RELATED [OMIM:605809] @@ -229274,6 +234259,7 @@ synonym: "congenital myasthenic syndrome type Ia1, formerly" RELATED [OMIM:60580 synonym: "congenital myasthenic syndrometype Ia1" EXACT [DOID:0110678] synonym: "myasthenic syndrome, congenital, 4A, slow-channel" RELATED [MONDO:Lexical, OMIM:605809] xref: DOID:0110678 {source="MONDO:equivalentTo"} +xref: GARD:15387 {source="OMIM:605809"} xref: OMIM:605809 {source="DOID:0110678", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:605809"} xref: UMLS:C1853949 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605809"} @@ -229288,6 +234274,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011601 name: neonatal intrahepatic cholestasis due to citrin deficiency def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." [Orphanet:247598] +subset: gard_rare {source="GARD:10214"} subset: ordo_disease {source="Orphanet:247598"} synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814] synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814] @@ -229299,6 +234286,7 @@ synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214] synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214] synonym: "NICCD" EXACT ABBREVIATION [Orphanet:247598] xref: DOID:0070341 {source="MONDO:equivalentTo"} +xref: GARD:10214 {source="Orphanet:247598"} xref: ICD10CM:E72.2 {source="Orphanet:247598", source="Orphanet:247598/attributed", source="Orphanet:247598/ntbt"} xref: MESH:C536398 {source="MONDO:equivalentTo"} xref: OMIM:605814 {source="Orphanet:247598", source="MONDO:equivalentTo", source="Orphanet:247598/e"} @@ -229314,12 +234302,14 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0011602 name: autosomal recessive nonsyndromic hearing loss 27 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." [DOID:0110485, PMID:11175289] +subset: gard_rare {source="GARD:22600"} synonym: "autosomal recessive deafness 27" NARROW [DOID:0110485] synonym: "autosomal recessive nonsyndromic deafness 27" NARROW [OMIM:605818] synonym: "autosomal recessive nonsyndromic deafness type 27" NARROW [DOID:0110485, MONDORULE:2] synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical, OMIM:605818, OMIM:genemap2] synonym: "DFNB27" NARROW ABBREVIATION [DOID:0110485, MONDO:Lexical, OMIM:605818] xref: DOID:0110485 {source="MONDO:equivalentTo"} +xref: GARD:22600 {source="OMIM:605818"} xref: ICD10CM:H90.3 {source="DOID:0110485"} xref: MESH:C565287 {source="MONDO:equivalentTo"} xref: OMIM:605818 {source="MONDO:equivalentTo", source="DOID:0110485"} @@ -229333,6 +234323,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011603 name: GNE myopathy def: "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." [Orphanet:602] +subset: gard_rare {source="GARD:9493"} subset: ordo_disease {source="Orphanet:602"} synonym: "distal myopathy with rimmed vacuoles" EXACT [Orphanet:602] synonym: "distal myopathy, Nonaka type" EXACT [Orphanet:602] @@ -229357,6 +234348,7 @@ synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493] synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602] synonym: "rimmed vacuole myopathy" RELATED [GARD:0009493] xref: DOID:0080718 {source="MONDO:equivalentTo"} +xref: GARD:9493 {source="Orphanet:602"} xref: ICD10CM:G71.8 {source="Orphanet:602/attributed", source="Orphanet:602/ntbt", source="Orphanet:602"} xref: MESH:C536816 {source="Orphanet:602", source="Orphanet:602/e"} xref: OMIM:605820 {source="Orphanet:602", source="MONDO:equivalentTo", source="Orphanet:602/e"} @@ -229377,9 +234369,11 @@ property_value: confidence "0.00588235294117645" xsd:double id: MONDO:0011604 name: spondylo-ocular syndrome def: "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." [Orphanet:85194] +subset: gard_rare {source="GARD:16740"} subset: ordo_malformation_syndrome {source="Orphanet:85194"} synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822] synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822] +xref: GARD:16740 {source="Orphanet:85194"} xref: ICD10CM:Q87.5 {source="Orphanet:85194", source="Orphanet:85194/attributed", source="Orphanet:85194/ntbt"} xref: OMIM:605822 {source="Orphanet:85194/e", source="MONDO:equivalentTo", source="Orphanet:85194"} xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"} @@ -229397,9 +234391,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011605 name: generalized basaloid follicular hamartoma syndrome def: "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." [Orphanet:168632] +subset: gard_rare {source="GARD:17042"} subset: ordo_disease {source="Orphanet:168632"} synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827] synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605827] +xref: GARD:17042 {source="Orphanet:168632"} xref: ICD10CM:Q82.5 {source="Orphanet:168632/attributed", source="Orphanet:168632/ntbt", source="Orphanet:168632"} xref: MESH:C565284 {source="MONDO:equivalentTo"} xref: OMIM:605827 {source="Orphanet:168632", source="MONDO:equivalentTo", source="Orphanet:168632/e"} @@ -229417,7 +234413,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011606 name: baby rattle pelvis dysplasia -subset: gard_rare synonym: "baby rattle pelvic dysplasia" RELATED [GARD:0009289] synonym: "baby rattle pelvis dysplasia" EXACT [OMIM:605838] xref: MESH:C537794 {source="MONDO:equivalentTo"} @@ -229432,10 +234427,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9289/baby-ra [Term] id: MONDO:0011607 name: narcolepsy 2, susceptibility to +subset: gard_rare {source="GARD:15388"} subset: predisposition synonym: "narcolepsy 2" RELATED [OMIM:605841, OMIM:genemap2] synonym: "narcolepsy 2, susceptibility to" EXACT [OMIM:605841] synonym: "NRCLP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605841] +xref: GARD:15388 {source="OMIM:605841"} xref: OMIM:605841 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:605841"} xref: UMLS:C1853901 {source="OMIM:605841", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -229484,6 +234481,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011610 name: dimethylglycine dehydrogenase deficiency def: "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:243343] +subset: gard_rare {source="GARD:17185"} subset: n_of_one {source="Orphanet:243343-textdef"} subset: ordo_disease {source="Orphanet:243343"} synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern] @@ -229493,6 +234491,7 @@ synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343] synonym: "DMGDH deficiency" EXACT [Orphanet:243343] synonym: "Dmgdh deficiency" RELATED [OMIM:605850] synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605850] +xref: GARD:17185 {source="Orphanet:243343"} xref: ICD10CM:E72.5 {source="Orphanet:243343", source="Orphanet:243343/attributed", source="Orphanet:243343/ntbt"} xref: MESH:C565278 {source="MONDO:equivalentTo"} xref: OMIM:605850 {source="Orphanet:243343", source="MONDO:equivalentTo", source="Orphanet:243343/e"} @@ -229522,7 +234521,7 @@ is_a: MONDO:0003847 {source="MESH:C566989/inferred"} ! hereditary disease id: MONDO:0011612 name: glycine encephalopathy def: "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." [Orphanet:407] -subset: gard_rare {source="GARD:0007219"} +subset: gard_rare {source="GARD:7219"} subset: ordo_disease {source="Orphanet:407"} synonym: "GCE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605899] synonym: "GLYCINE encephalopathy" RELATED [OMIM:605899] @@ -229535,6 +234534,7 @@ synonym: "NKA" EXACT ABBREVIATION [Orphanet:407] synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407] synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268] xref: DOID:9268 {source="MONDO:equivalentTo"} +xref: GARD:7219 {source="Orphanet:407"} xref: ICD10CM:E72.5 {source="Orphanet:407/inclusion", source="Orphanet:407", source="Orphanet:407/ntbt"} xref: ICD10CM:E72.51 {source="DOID:9268"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -229555,6 +234555,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7219/glycine id: MONDO:0011613 name: autosomal recessive early-onset Parkinson disease 6 def: "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18605"} synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive early-onset Parkinson disease type 6" RELATED [DOID:0060369, MONDORULE:1] synonym: "autosomal recessive early-onset Parkinson's disease 6" RELATED [DOID:0060369] @@ -229568,6 +234569,7 @@ synonym: "Parkinson disease caused by mutation in PINK1" EXACT [MONDO:design_pat synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [OMIM:605909] synonym: "PINK1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060369 {source="MONDO:equivalentTo"} +xref: GARD:18605 {source="OMIM:605909"} xref: MESH:C565276 {source="MONDO:equivalentTo"} xref: OMIM:605909 {source="DOID:0060369", source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:605909"} @@ -229585,7 +234587,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011614 name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency def: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." [Orphanet:35701] -subset: gard_rare +subset: gard_rare {source="GARD:2712"} subset: ordo_disease {source="Orphanet:35701"} synonym: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical, OMIM:605911] @@ -229596,6 +234598,7 @@ synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911] synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605911] synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911] xref: DOID:0081168 {source="MONDO:equivalentTo"} +xref: GARD:2712 {source="Orphanet:35701"} xref: ICD10CM:E71.3 {source="Orphanet:35701/attributed", source="Orphanet:35701/ntbt", source="Orphanet:35701"} xref: MESH:C567784 {source="MONDO:equivalentTo"} xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="Orphanet:35701/e"} @@ -229610,9 +234613,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011615 name: East Texas bleeding disorder +subset: gard_rare {source="GARD:17613"} subset: ordo_disease {source="Orphanet:391320"} synonym: "Bdet" RELATED [OMIM:605913] synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913] +xref: GARD:17613 {source="Orphanet:391320"} xref: ICD10CM:D68.2 {source="Orphanet:391320", source="Orphanet:391320/attributed", source="Orphanet:391320/ntbt"} xref: MESH:C565275 {source="MONDO:equivalentTo"} xref: OMIM:605913 {source="MONDO:equivalentTo", source="Orphanet:391320", source="Orphanet:391320/e"} @@ -229658,7 +234663,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011619 name: crumpled helices and small mouth -subset: gard_rare {source="GARD:0010078"} synonym: "crumpled helices and small mouth" EXACT [OMIM:605945] synonym: "sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" RELATED [GARD:0010078] xref: MESH:C536217 {source="MONDO:equivalentTo"} @@ -229671,8 +234675,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10078/crumpl id: MONDO:0011620 name: metaphyseal dysplasia, Braun-Tinschert type def: "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." [Orphanet:85188] +subset: gard_rare {source="GARD:16738"} subset: ordo_malformation_syndrome {source="Orphanet:85188"} synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946] +xref: GARD:16738 {source="Orphanet:85188"} xref: ICD10CM:Q78.5 {source="Orphanet:85188", source="Orphanet:85188/attributed", source="Orphanet:85188/ntbt"} xref: MESH:C565271 {source="MONDO:equivalentTo"} xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="Orphanet:85188/e"} @@ -229692,7 +234698,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011621 name: acropectoral syndrome def: "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." [Orphanet:85203] -subset: gard_rare {source="GARD:0008485"} +subset: gard_rare {source="GARD:8485"} subset: ordo_malformation_syndrome {source="Orphanet:85203"} synonym: "acro-pectoral syndrome" RELATED [GARD:0008485] synonym: "acropectoral syndrome" EXACT [MONDO:Lexical, OMIM:605967] @@ -229702,6 +234708,7 @@ synonym: "Dundar Acropectoral syndrome" RELATED [OMIM:605967] synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD:0008485] synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967] synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203] +xref: GARD:8485 {source="Orphanet:85203"} xref: ICD10CM:Q74.0 {source="Orphanet:85203/attributed", source="Orphanet:85203/ntbt", source="Orphanet:85203"} xref: MESH:C535664 {source="MONDO:equivalentTo"} xref: OMIM:605967 {source="Orphanet:85203", source="MONDO:equivalentTo", source="Orphanet:85203/e"} @@ -229739,12 +234746,13 @@ replaced_by: MONDO:0018996 id: MONDO:0011624 name: transaldolase deficiency def: "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." [Orphanet:101028] -subset: gard_rare {source="GARD:0010445"} +subset: gard_rare {source="GARD:10445"} subset: ordo_disease {source="Orphanet:101028"} synonym: "Eyaid syndrome" RELATED [OMIM:606003] synonym: "TALDO deficiency" EXACT [Orphanet:101028] synonym: "Taldo deficiency" RELATED [OMIM:606003] synonym: "transaldolase deficiency" EXACT [OMIM:606003] +xref: GARD:10445 {source="Orphanet:101028"} xref: ICD10CM:E74.8 {source="Orphanet:101028", source="Orphanet:101028/attributed", source="Orphanet:101028/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563207 {source="MONDO:equivalentTo"} @@ -229762,12 +234770,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10445/transa id: MONDO:0011625 name: autosomal dominant nonsyndromic hearing loss 18 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." [DOID:0110549, PMID:11313754] +subset: gard_rare {source="GARD:18113"} synonym: "autosomal dominant deafness 18" NARROW [DOID:0110549] synonym: "autosomal dominant nonsyndromic deafness 18" NARROW [OMIM:606012] synonym: "autosomal dominant nonsyndromic deafness type 18" NARROW [DOID:0110549, MONDORULE:2] synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical, OMIM:606012, OMIM:genemap2] synonym: "DFNA18" NARROW ABBREVIATION [DOID:0110549, MONDO:Lexical, OMIM:606012] xref: DOID:0110549 {source="MONDO:equivalentTo"} +xref: GARD:18113 {source="OMIM:606012"} xref: ICD10CM:H90.3 {source="DOID:0110549"} xref: MESH:C565267 {source="MONDO:equivalentTo"} xref: OMIM:606012 {source="DOID:0110549", source="MONDO:equivalentTo"} @@ -229780,7 +234790,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011626 name: acromegaloid features, overgrowth, cleft palate, and hernia -subset: gard_rare {source="GARD:0010194"} synonym: "acromegaloid features, overgrowth, cleft palate and hernia" RELATED [GARD:0010194] synonym: "acromegaloid features, overgrowth, cleft palate, and hernia" EXACT [OMIM:606049] synonym: "Aoch" RELATED [OMIM:606049] @@ -229793,12 +234802,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10194/acrome [Term] id: MONDO:0011627 name: autism, susceptibility to, 5 +subset: gard_rare {source="GARD:18512"} subset: predisposition synonym: "autism, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:606053] synonym: "autism-related speech delay" RELATED [OMIM:606053] synonym: "AUTS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606053] synonym: "intellectual developmental disorder with autism and speech delay" EXACT [OMIM:606053, OMIM:genemap2] synonym: "phrase speech delay, autism-related" RELATED [OMIM:606053] +xref: GARD:18512 {source="OMIM:606053"} xref: OMIM:606053 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:606053"} xref: UMLS:C1853755 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606053"} @@ -229810,7 +234821,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011628 name: propionic acidemia def: "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." [Orphanet:35] -subset: gard_rare {source="GARD:0000467"} +subset: gard_rare {source="GARD:467"} subset: ordo_disease {source="Orphanet:35"} synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701] synonym: "Glycinemia, ketotic" RELATED [OMIM:606054] @@ -229826,6 +234837,7 @@ synonym: "Propionicacidemia" RELATED [GARD:0000467] synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35] synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054] xref: DOID:14701 {source="MONDO:equivalentTo"} +xref: GARD:467 {source="Orphanet:35"} xref: ICD10CM:E71.1 {source="Orphanet:35/inclusion", source="Orphanet:35/ntbt", source="Orphanet:35"} xref: ICD10CM:E71.121 {source="DOID:14701", source="MONDO:equivalentTo"} xref: MESH:D056693 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"} @@ -229851,6 +234863,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/467/propioni id: MONDO:0011629 name: MOGS-congenital disorder of glycosylation def: "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." [Orphanet:79330] +subset: gard_rare {source="GARD:10767"} subset: ordo_disease {source="Orphanet:79330"} synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG 2B" RELATED [GARD:0010767] @@ -229867,6 +234880,7 @@ synonym: "MOGS-CDG" EXACT ABBREVIATION [Orphanet:79330] synonym: "MOGS-CDG (CDG-IIb)" RELATED [GARD:0010767] synonym: "MOGS-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070254 {source="MONDO:equivalentTo"} +xref: GARD:10767 {source="Orphanet:79330"} xref: ICD10CM:E77.8 {source="Orphanet:79330/attributed", source="Orphanet:79330/ntbt", source="Orphanet:79330"} xref: MESH:C565264 {source="MONDO:equivalentTo"} xref: OMIM:606056 {source="Orphanet:79330/e", source="MONDO:equivalentTo", source="Orphanet:79330"} @@ -229886,7 +234900,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0011630 name: retinitis pigmentosa 28 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010394"} +subset: gard_rare {source="GARD:10394"} synonym: "FAM161A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 28" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:606068] synonym: "retinitis pigmentosa caused by mutation in FAM161A" EXACT [MONDO:design_pattern] @@ -229894,6 +234908,7 @@ synonym: "retinitis pigmentosa type 28" EXACT [DOID:0110365, MONDORULE:2, OMIM:6 synonym: "RP 28" RELATED [GARD:0010394] synonym: "RP28" EXACT ABBREVIATION [DOID:0110365, MONDO:Lexical, OMIM:606068] xref: DOID:0110365 {source="MONDO:equivalentTo"} +xref: GARD:10394 {source="OMIM:606068"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110365"} xref: OMIM:606068 {source="MONDO:equivalentTo", source="DOID:0110365"} xref: UMLS:C1419614 {source="MONDO:equivalentTo", source="OMIM:606068"} @@ -229908,7 +234923,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10394/retini id: MONDO:0011631 name: hemochromatosis type 4 def: "A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC." [Orphanet:647834] -subset: gard_rare {source="GARD:0010094"} subset: ordo_disease {source="Orphanet:139491"} synonym: "autosomal dominant hereditary hemochromatosis" EXACT [DOID:0111028] synonym: "ferroportin disease" EXACT [DOID:0111028, Orphanet:648562] @@ -229938,6 +234952,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10094/hemoch id: MONDO:0011632 name: amyotrophic lateral sclerosis type 21 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18619"} synonym: "ALS21" EXACT ABBREVIATION [DOID:0060212, MONDO:Lexical, OMIM:606070] synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical, OMIM:606070] synonym: "amyotrophic lateral sclerosis caused by mutation in MATR3" EXACT [MONDO:design_pattern] @@ -229948,6 +234963,7 @@ synonym: "myopathy, distal, 2, formerly" RELATED [OMIM:606070] synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" RELATED [OMIM:606070] synonym: "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" RELATED [OMIM:606070] xref: DOID:0060212 {source="MONDO:equivalentTo"} +xref: GARD:18619 {source="OMIM:606070"} xref: NCIT:C168755 {source="MONDO:equivalentTo"} xref: OMIM:606070 {source="DOID:0060212", source="MONDO:equivalentTo"} xref: Orphanet:600 {source="MONDO:relatedTo", source="OMIM:606070"} @@ -229963,7 +234979,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011633 name: Charcot-Marie-Tooth disease axonal type 2C def: "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." [Orphanet:99937] -subset: gard_rare +subset: gard_rare {source="GARD:1250"} subset: ordo_disease {source="Orphanet:99937"} synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] @@ -229985,6 +235001,7 @@ synonym: "HMSN 2C" RELATED [OMIM:606071] synonym: "HMSN2C" EXACT ABBREVIATION [DOID:0110182, MONDO:Lexical, OMIM:606071] synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110182 {source="MONDO:equivalentTo"} +xref: GARD:1250 {source="Orphanet:99937"} xref: ICD10CM:G60.0 {source="DOID:0110182", source="Orphanet:99937", source="Orphanet:99937/attributed", source="Orphanet:99937/ntbt"} xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="Orphanet:99937", source="GARD:0001250", source="Orphanet:99937/e"} xref: Orphanet:99937 {source="OMIM:606071", source="MONDO:equivalentTo", source="DOID:0110182"} @@ -230029,13 +235046,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011636 name: Diamond-Blackfan anemia 2 -subset: gard_rare +subset: gard_rare {source="GARD:8283"} synonym: "anaemia Diamond-Blackfan 2" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 2" RELATED [GARD:0008283] synonym: "DBA2" RELATED ABBREVIATION [GARD:0008283, MESH:C536130, MONDO:Lexical, OMIM:606129] synonym: "Diamond-Blackfan anemia 2" EXACT [MESH:C536130, MONDO:Lexical, OMIM:606129] synonym: "Diamond-Blackfan Anemia, 2" RELATED [MESH:C536130] xref: DOID:0111885 {source="MONDO:equivalentTo"} +xref: GARD:8283 {source="OMIM:606129"} xref: MESH:C536130 {source="MONDO:equivalentTo"} xref: OMIM:606129 {source="MONDO:equivalentTo", source="GARD:0008283"} xref: UMLS:C1853666 {source="OMIM:606129", source="MONDO:equivalentTo", source="GARD:0008283", source="MONDO:ncbi_mim2gene_medline"} @@ -230046,7 +235064,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8283/diamond [Term] id: MONDO:0011637 name: Sener syndrome -subset: gard_rare {source="GARD:0008451"} synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" RELATED [OMIM:606156] synonym: "polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" RELATED [GARD:0008451] synonym: "Sener syndrome" EXACT [OMIM:606156] @@ -230061,6 +235078,7 @@ id: MONDO:0011638 name: neuroferritinopathy def: "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." [Orphanet:157846] comment: Editor note: consider relation to basal ganglia +subset: gard_rare {source="GARD:10686"} subset: ordo_disease {source="Orphanet:157846"} synonym: "adult basal ganglia disease" EXACT [DOID:0110737, Orphanet:157846] synonym: "basal ganglia disease adult-onset" RELATED [GARD:0010686] @@ -230073,6 +235091,7 @@ synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [DOID:011 synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159] synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737] xref: DOID:0110737 {source="MONDO:equivalentTo"} +xref: GARD:10686 {source="Orphanet:157846"} xref: ICD10CM:G23.0 {source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/attributed", source="Orphanet:157846/ntbt"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} @@ -230091,6 +235110,7 @@ id: MONDO:0011639 name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series 105650. {source="OMIM:606164"} +subset: gard_rare {source="GARD:15390"} synonym: "DBA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606164] synonym: "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis" EXACT OMO:0003005 [] synonym: "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [OMIM:606164, OMIM:genemap2] @@ -230100,6 +235120,7 @@ synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:desi synonym: "RPS28 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111894 {source="MONDO:equivalentTo"} +xref: GARD:15390 {source="OMIM:606164"} xref: OMIM:606164 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:606164"} xref: UMLS:C1853576 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606164"} @@ -230115,7 +235136,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011640 name: genitopatellar syndrome def: "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." [Orphanet:85201] -subset: gard_rare {source="GARD:0010994"} +subset: gard_rare {source="GARD:10994"} subset: ordo_malformation_syndrome {source="Orphanet:85201"} synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability" RELATED [OMIM:606170] synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED DEPRECATED [OMIM:606170] @@ -230123,6 +235144,7 @@ synonym: "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism- synonym: "GENITOPATELLAR syndrome" RELATED [OMIM:606170] synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170] synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606170] +xref: GARD:10994 {source="Orphanet:85201"} xref: ICD10CM:Q87.8 {source="Orphanet:85201/attributed", source="Orphanet:85201/ntbt", source="Orphanet:85201"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565255 {source="MONDO:equivalentTo"} @@ -230158,7 +235180,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011642 name: carnitine acetyltransferase deficiency def: "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state." [MONDO:cjm, PMID:28955988] -subset: gard_rare synonym: "Acetyl-carnitine deficiency" RELATED [GTR:AN0098794] synonym: "acetyl-carnitine deficiency" RELATED [GARD:0008602] synonym: "carnitine acetyltransferase deficiency" EXACT [GARD:0008602, OMIM:606175] @@ -230232,6 +235253,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011647 name: Alzheimer disease 7 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." [DOID:0110039, PMID:11443525] +subset: gard_rare {source="GARD:16510"} synonym: "AD7" EXACT ABBREVIATION [DOID:0110039] synonym: "Ad7" RELATED [OMIM:606187] synonym: "Alzheimer disease 7" EXACT [DOID:0110039, OMIM:606187] @@ -230242,6 +235264,7 @@ synonym: "Alzheimer disease-7" EXACT [OMIM:606187, OMIM:genemap2] synonym: "Alzheimer's disease 7" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 7" EXACT [DOID:0110039, MONDORULE:1] xref: DOID:0110039 {source="MONDO:equivalentTo"} +xref: GARD:16510 {source="OMIM:606187"} xref: ICD10CM:G30 {source="DOID:0110039"} xref: MESH:C565251 {source="MONDO:equivalentTo"} xref: OMIM:606187 {source="DOID:0110039", source="MONDO:equivalentTo"} @@ -230255,10 +235278,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011648 name: radiation-induced meningioma -subset: gard_rare {source="GARD:0008491"} +subset: gard_rare {source="GARD:8491"} synonym: "meningioma, radiation-induced" RELATED [OMIM:606190] synonym: "Mnri" RELATED [OMIM:606190] synonym: "radiation induced meningioma" RELATED [GARD:0008491] +xref: GARD:8491 {source="OMIM:606190"} xref: MESH:C536266 {source="MONDO:equivalentTo"} xref: OMIM:606190 {source="MONDO:equivalentTo"} xref: Orphanet:2495 {source="OMIM:606190"} @@ -230316,6 +235340,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011652 name: Phelan-McDermid syndrome def: "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." [Orphanet:48652] +subset: gard_rare {source="GARD:10130"} subset: ordo_malformation_syndrome {source="Orphanet:48652"} synonym: "22q13 deletion" EXACT [Orphanet:48652] synonym: "22q13.3 deletion syndrome" RELATED [GARD:0010130] @@ -230330,6 +235355,7 @@ synonym: "PHMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606232] synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232] xref: DECIPHER:20 {source="MONDO:equivalentTo"} xref: DOID:0080354 {source="MONDO:equivalentTo"} +xref: GARD:10130 {source="Orphanet:48652"} xref: ICD10CM:Q93.5 {source="Orphanet:48652", source="Orphanet:48652/attributed", source="Orphanet:48652/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536801 {source="MONDO:equivalentTo"} @@ -230346,11 +235372,13 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0011653 name: thyroid cancer, nonmedullary, 3 +subset: gard_rare {source="GARD:15391"} synonym: "NMTC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606240] synonym: "thyroid cancer, nonmedullary, 1" RELATED [OMIM:606240] synonym: "thyroid cancer, nonmedullary, 1, formerly" RELATED [OMIM:606240] synonym: "thyroid cancer, nonmedullary, 3" EXACT [MONDO:Lexical, OMIM:606240] synonym: "thyroid carcinoma, nonmedullary, 3" EXACT [OMIM:606240, OMIM:genemap2] +xref: GARD:15391 {source="OMIM:606240"} xref: OMIM:606240 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="OMIM:606240"} xref: UMLS:C1853488 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606240"} @@ -230374,6 +235402,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011655 name: alveolar soft part sarcoma def: "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." [NCIT:C7943] +subset: gard_rare {source="GARD:5654"} subset: ordo_disease {source="Orphanet:163699"} synonym: "adult alveolar soft Part sarcoma" EXACT [NCIT:C7943] synonym: "adult alveolar soft part sarcoma" EXACT [DOID:4239] @@ -230391,6 +235420,7 @@ synonym: "paediatric alveolar soft Part sarcoma" NARROW OMO:0003005 [] synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092] xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"} xref: EFO:0007143 {source="MONDO:equivalentTo"} +xref: GARD:5654 {source="Orphanet:163699"} xref: HP:0012218 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:163699/ntbt", source="Orphanet:163699"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -230433,6 +235463,7 @@ is_a: MONDO:0005382 {source="DC-OMIM:606263", source="OMIM:606263"} ! bone Paget id: MONDO:0011657 name: autosomal dominant nonsyndromic hearing loss 24 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." [DOID:0110554, PMID:10739769] +subset: gard_rare {source="GARD:9166"} synonym: "autosomal dominant deafness 24" NARROW [DOID:0110554] synonym: "autosomal dominant nonsyndromic deafness 24" NARROW [OMIM:606282] synonym: "autosomal dominant nonsyndromic deafness type 24" NARROW [DOID:0110554, MONDORULE:2] @@ -230441,6 +235472,7 @@ synonym: "deafness, autosomal dominant nonsyndromic sensorineural 24" NARROW [GA synonym: "DFNA 24" NARROW [GARD:0009166] synonym: "DFNA24" NARROW ABBREVIATION [DOID:0110554, MONDO:Lexical, OMIM:606282] xref: DOID:0110554 {source="MONDO:equivalentTo"} +xref: GARD:9166 {source="OMIM:606282"} xref: ICD10CM:H90.3 {source="DOID:0110554"} xref: MESH:C565239 {source="MONDO:equivalentTo"} xref: OMIM:606282 {source="MONDO:equivalentTo", source="DOID:0110554"} @@ -230453,6 +235485,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011658 name: autosomal recessive early-onset Parkinson disease 7 def: "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18606"} synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [DOID:0060370, MONDORULE:1] synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [DOID:0060370] @@ -230461,6 +235494,7 @@ synonym: "PARK7 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/d synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:606324] synonym: "Parkinson disease caused by mutation in PARK7" EXACT [MONDO:design_pattern] xref: DOID:0060370 {source="MONDO:equivalentTo"} +xref: GARD:18606 {source="OMIM:606324"} xref: MESH:C565238 {source="MONDO:equivalentTo"} xref: OMIM:606324 {source="MONDO:equivalentTo", source="DOID:0060370"} xref: Orphanet:2828 {source="OMIM:606324"} @@ -230489,6 +235523,7 @@ property_value: confidence "2.249999999999999" xsd:double id: MONDO:0011660 name: autosomal dominant nonsyndromic hearing loss 22 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9167"} synonym: "autosomal dominant deafness 22" NARROW [DOID:0110552] synonym: "autosomal dominant nonsyndromic deafness 22" NARROW [OMIM:606346] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] @@ -230501,6 +235536,7 @@ synonym: "DFNA 22" RELATED [GARD:0009167] synonym: "DFNA22" NARROW ABBREVIATION [DOID:0110552, MONDO:Lexical, OMIM:606346] synonym: "MYO6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110552 {source="MONDO:equivalentTo"} +xref: GARD:9167 {source="OMIM:606346"} xref: ICD10CM:H90.3 {source="DOID:0110552"} xref: MESH:C538197 {source="MONDO:equivalentTo"} xref: OMIM:606346 {source="MONDO:equivalentTo", source="DOID:0110552"} @@ -230556,7 +235592,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011663 name: juvenile primary lateral sclerosis def: "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." [Orphanet:247604] -subset: gard_rare {source="GARD:0004485"} +subset: gard_rare {source="GARD:4485"} subset: ordo_disease {source="Orphanet:247604"} synonym: "JPLS" EXACT ABBREVIATION [Orphanet:247604] synonym: "juvenile PLS" EXACT [Orphanet:247604] @@ -230564,6 +235600,7 @@ synonym: "PLS juvenile" RELATED [GARD:0004485] synonym: "Pls, juvenile" RELATED [OMIM:606353] synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606353] synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353] +xref: GARD:4485 {source="Orphanet:247604"} xref: ICD10CM:G12.2 {source="Orphanet:247604", source="Orphanet:247604/attributed", source="Orphanet:247604/ntbt"} xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} @@ -230578,6 +235615,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4485/juvenil [Term] id: MONDO:0011664 name: immunodeficiency due to CD25 deficiency +subset: gard_rare {source="GARD:17049"} subset: ordo_disease {source="Orphanet:169100"} synonym: "CD25 deficiency" RELATED [OMIM:606367] synonym: "IL2RA deficiency" RELATED [OMIM:606367] @@ -230587,6 +235625,7 @@ synonym: "immunodeficiency due to CD25 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367] synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100] xref: DOID:0111968 {source="MONDO:equivalentTo"} +xref: GARD:17049 {source="Orphanet:169100"} xref: ICD10CM:D81.2 {source="Orphanet:169100/attributed", source="Orphanet:169100/ntbt", source="Orphanet:169100"} xref: MESH:C565232 {source="MONDO:equivalentTo"} xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"} @@ -230612,7 +235651,7 @@ replaced_by: MONDO:0018911 id: MONDO:0011667 name: maturity-onset diabetes of the young type 4 def: "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." [NCIT:C129746] -subset: gard_rare {source="GARD:0010659"} +subset: gard_rare {source="GARD:10659"} synonym: "diabetes mellitus MODY type 4" RELATED [GARD:0010659] synonym: "maturity onset diabetes of the Young, type 4" EXACT [NCIT:C129746] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" EXACT [] @@ -230626,6 +235665,7 @@ synonym: "PDX1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patt synonym: "PDX1-associated monogenic diabetes" EXACT [NCIT:C129746] synonym: "type 4 maturity-onset diabetes of the young" RELATED [GARD:0010659] xref: DOID:0111103 {source="MONDO:equivalentTo"} +xref: GARD:10659 {source="OMIM:606392"} xref: MESH:C563451 {source="MONDO:equivalentTo"} xref: NCIT:C129746 {source="MONDO:equivalentTo"} xref: OMIM:606392 {source="MONDO:equivalentTo", source="DOID:0111103"} @@ -230644,7 +235684,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10659/maturi id: MONDO:0011668 name: maturity-onset diabetes of the young type 6 def: "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." [NCIT:C129745] -subset: gard_rare {source="GARD:0010660"} +subset: gard_rare {source="GARD:10660"} synonym: "diabetes mellitus MODY type 6" RELATED [GARD:0010660] synonym: "maturity onset diabetes of the Young, type 6" EXACT [NCIT:C129745] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" EXACT [] @@ -230659,6 +235699,7 @@ synonym: "NEUROD1-associated monogenic diabetes" EXACT [NCIT:C129745] synonym: "neurogenic differentiation Factor 1-associated monogenic diabetes" EXACT [NCIT:C129745] synonym: "type 6 maturity-onset diabetes of the young" RELATED [GARD:0010660] xref: DOID:0111104 {source="MONDO:equivalentTo"} +xref: GARD:10660 {source="OMIM:606394"} xref: MESH:C565231 {source="MONDO:equivalentTo"} xref: NCIT:C129745 {source="MONDO:equivalentTo"} xref: OMIM:606394 {source="MONDO:equivalentTo", source="DOID:0111104"} @@ -230678,6 +235719,7 @@ id: MONDO:0011669 name: hypotonia-cystinuria syndrome def: "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." [Orphanet:163690] subset: disease_grouping +subset: gard_rare {source="GARD:16998", source="GARD:20634"} subset: ordo_disease {source="Orphanet:163690"} subset: ordo_group_of_disorders {source="Orphanet:238517"} synonym: "cystinuria with mitochondrial disease" EXACT [DOID:0060858, OMIM:606407] @@ -230690,6 +235732,8 @@ synonym: "hypotonia-cystinuria syndrome type 1" EXACT [MONDO:0016538] synonym: "hypotonia-cystinuria type 1 syndrome" EXACT [Orphanet:238517] xref: DOID:0060858 {source="MONDO:equivalentTo"} xref: EFO:0007550 {source="MONDO:equivalentTo"} +xref: GARD:16998 {source="Orphanet:163690"} +xref: GARD:20634 {source="Orphanet:238517"} xref: ICD10CM:E72.0 {source="Orphanet:163690", source="Orphanet:163690/attributed", source="Orphanet:163690/ntbt", source="Orphanet:238517", source="DOID:0060858", source="Orphanet:238517/attributed", source="Orphanet:238517/ntbt"} xref: MESH:C564710 {source="MONDO:equivalentTo"} xref: OMIM:606407 {source="Orphanet:163690", source="MONDO:equivalentTo", source="Orphanet:163690/e", source="DOID:0060858"} @@ -230713,6 +235757,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011670 name: Ehlers-Danlos syndrome due to tenascin-X deficiency +subset: gard_rare {source="GARD:8507"} subset: ordo_disease {source="Orphanet:230839"} synonym: "classical-like EDS" RELATED [GARD:0008507] synonym: "classical-like Ehlers-Danlos syndrome" RELATED [GARD:0008507] @@ -230729,6 +235774,7 @@ synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MES synonym: "TNX deficiency" RELATED [MESH:C536193] synonym: "Tnx deficiency" RELATED [OMIM:606408] xref: DOID:0080731 {source="MONDO:equivalentTo"} +xref: GARD:8507 {source="Orphanet:230839"} xref: ICD10CM:Q79.6 {source="Orphanet:230839", source="Orphanet:230839/attributed", source="Orphanet:230839/ntbt"} xref: MESH:C536193 {source="MONDO:equivalentTo"} xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source="Orphanet:230839/e"} @@ -230744,12 +235790,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011671 name: Huntington disease-like 2 def: "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." [Orphanet:98934] +subset: gard_rare {source="GARD:16874"} subset: ordo_disease {source="Orphanet:98934"} synonym: "HDL2" EXACT ABBREVIATION [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934] synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438] synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934] synonym: "Huntington's disease-like 2" RELATED [DOID:0090104] xref: DOID:0090104 {source="MONDO:equivalentTo"} +xref: GARD:16874 {source="Orphanet:98934"} xref: ICD10CM:G10 {source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/attributed", source="Orphanet:98934/ntbt"} xref: MESH:C564708 {source="MONDO:equivalentTo"} xref: OMIM:606438 {source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/e"} @@ -230764,10 +235812,12 @@ property_value: confidence "146.5000000000006" xsd:double id: MONDO:0011672 name: persistent polyclonal B-cell lymphocytosis def: "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." [Orphanet:300324] +subset: gard_rare {source="GARD:17366"} subset: ordo_disease {source="Orphanet:300324"} synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445] synonym: "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" EXACT [Orphanet:300324] synonym: "PPBL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606445, Orphanet:300324] +xref: GARD:17366 {source="Orphanet:300324"} xref: ICD10CM:I72.8 {source="Orphanet:300324/ntbt", source="Orphanet:300324"} xref: MESH:C564707 {source="MONDO:equivalentTo"} xref: OMIM:606445 {source="Orphanet:300324", source="MONDO:equivalentTo", source="Orphanet:300324/e"} @@ -230782,12 +235832,14 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0011673 name: autosomal dominant nonsyndromic hearing loss 30 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." [DOID:0110560, PMID:11571554] +subset: gard_rare {source="GARD:18114"} synonym: "autosomal dominant deafness 30" NARROW [DOID:0110560] synonym: "autosomal dominant nonsyndromic deafness 30" NARROW [OMIM:606451] synonym: "autosomal dominant nonsyndromic deafness type 30" NARROW [DOID:0110560, MONDORULE:2] synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical, OMIM:606451, OMIM:genemap2] synonym: "DFNA30" NARROW ABBREVIATION [DOID:0110560, MONDO:Lexical, OMIM:606451] xref: DOID:0110560 {source="MONDO:equivalentTo"} +xref: GARD:18114 {source="OMIM:606451"} xref: ICD10CM:H90.3 {source="DOID:0110560"} xref: MESH:C564706 {source="MONDO:equivalentTo"} xref: OMIM:606451 {source="MONDO:equivalentTo", source="DOID:0110560"} @@ -230801,6 +235853,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011674 name: Charcot-Marie-Tooth disease dominant intermediate B def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." [Orphanet:100044] +subset: gard_rare {source="GARD:12438"} subset: ordo_disease {source="Orphanet:100044"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044] synonym: "Charcot-Marie-Tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern] @@ -230823,6 +235876,7 @@ synonym: "Di-CMTB" RELATED [OMIM:606482] synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438] xref: DOID:0110197 {source="MONDO:equivalentTo"} +xref: GARD:12438 {source="Orphanet:100044"} xref: ICD10CM:G60.0 {source="Orphanet:100044", source="Orphanet:100044/attributed", source="Orphanet:100044/ntbt", source="DOID:0110197"} xref: OMIM:606482 {source="Orphanet:100044", source="MONDO:equivalentTo", source="Orphanet:100044/e", source="DOID:0110197"} xref: Orphanet:100044 {source="MONDO:equivalentTo", source="OMIM:606482", source="DOID:0110197"} @@ -230843,6 +235897,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011675 name: Charcot-Marie-Tooth Disease, axonal, type 2GG def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." [Orphanet:100043] +subset: gard_rare {source="GARD:12437"} subset: ordo_disease {source="Orphanet:100043"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202] synonym: "Charcot-Marie-Tooth disease dominant intermediate A" EXACT [OMIM:606483] @@ -230855,6 +235910,7 @@ synonym: "CMTDIA" EXACT ABBREVIATION [DOID:0110202, MONDO:Lexical, OMIM:606483, synonym: "DI-CMTA" EXACT [DOID:0110202] synonym: "Di-Cmta" RELATED [OMIM:606483] xref: DOID:0110202 {source="MONDO:equivalentTo"} +xref: GARD:12437 {source="Orphanet:100043"} xref: ICD10CM:G60.0 {source="Orphanet:100043", source="Orphanet:100043/attributed", source="Orphanet:100043/ntbt", source="DOID:0110202"} xref: MESH:C564702 {source="MONDO:equivalentTo"} xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="Orphanet:100043/e", source="DOID:0110202"} @@ -230869,6 +235925,7 @@ property_value: confidence "38.35185185185186" xsd:double id: MONDO:0011676 name: PHACE syndrome def: "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." [Orphanet:42775] +subset: gard_rare {source="GARD:8338"} subset: ordo_malformation_syndrome {source="Orphanet:42775"} synonym: "aortic aneurysm, giant congenital" RELATED [OMIM:606519] synonym: "P-CIIS" RELATED [GARD:0008338] @@ -230877,6 +235934,7 @@ synonym: "pascual-Castroviejo type II syndrome" RELATED [GARD:0008338] synonym: "PHACE association" RELATED [OMIM:606519] synonym: "Phaces association" RELATED [OMIM:606519] synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338] +xref: GARD:8338 {source="Orphanet:42775"} xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="Orphanet:42775/attributed", source="Orphanet:42775/ntbt"} xref: MedDRA:10068032 {source="Orphanet:42775", source="Orphanet:42775/e"} xref: OMIM:606519 {source="Orphanet:42775", source="MONDO:equivalentTo", source="Orphanet:42775/e"} @@ -230897,7 +235955,6 @@ property_value: confidence "8.6" xsd:double [Term] id: MONDO:0011677 name: Megarbane syndrome -subset: gard_rare {source="GARD:0009979"} synonym: "Megarbane syndrome" EXACT [OMIM:606527] synonym: "short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation" RELATED [GARD:0009979] xref: MESH:C536145 {source="MONDO:equivalentTo"} @@ -230940,6 +235997,7 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0011680 name: autosomal recessive congenital ichthyosis 3 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15393"} synonym: "ARCI3" EXACT ABBREVIATION [DOID:0060711, MONDO:Lexical, OMIM:606545] synonym: "autosomal recessive congenital ichthyosis type 3" EXACT [DOID:0060711, MONDORULE:1] synonym: "collodion baby, self-healing" RELATED [OMIM:606545] @@ -230949,6 +236007,7 @@ synonym: "ichthyosis, lamellar, 5" RELATED [OMIM:606545] synonym: "ichthyosis, lamellar, 5, formerly" RELATED [OMIM:606545] synonym: "lamellar ichthyosis 5" EXACT [DOID:0060711] xref: DOID:0060711 {source="MONDO:equivalentTo"} +xref: GARD:15393 {source="OMIM:606545"} xref: ICD10CM:Q80.2 {source="DOID:0060711"} xref: MESH:C564699 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:606545 {source="MONDO:equivalentTo", source="DOID:0060711"} @@ -230973,6 +236032,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011681 name: episodic ataxia type 4 def: "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." [Orphanet:79136] +subset: gard_rare {source="GARD:16703"} subset: ordo_disease {source="Orphanet:79136"} synonym: "ataxia, periodic vestibulocerebellar" RELATED [OMIM:606552] synonym: "EA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606552] @@ -230980,6 +236040,7 @@ synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552] synonym: "PATX" EXACT ABBREVIATION [Orphanet:79136] synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136] xref: DOID:0050992 {source="MONDO:equivalentTo"} +xref: GARD:16703 {source="Orphanet:79136"} xref: ICD10CM:G11.8 {source="Orphanet:79136/attributed", source="Orphanet:79136/ntbt", source="Orphanet:79136"} xref: MESH:C564698 {source="MONDO:equivalentTo"} xref: OMIM:606552 {source="DOID:0050992", source="Orphanet:79136/e", source="MONDO:equivalentTo", source="Orphanet:79136"} @@ -230993,12 +236054,14 @@ property_value: confidence "1.3333333333333335" xsd:double id: MONDO:0011682 name: episodic ataxia type 3 def: "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." [Orphanet:79135] +subset: gard_rare {source="GARD:16702"} subset: ordo_disease {source="Orphanet:79135"} synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [OMIM:606554] synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135] xref: DOID:0050991 {source="MONDO:equivalentTo"} +xref: GARD:16702 {source="Orphanet:79135"} xref: ICD10CM:G11.8 {source="Orphanet:79135/attributed", source="Orphanet:79135/ntbt", source="Orphanet:79135"} xref: MESH:C564697 {source="MONDO:equivalentTo"} xref: OMIM:606554 {source="DOID:0050991", source="Orphanet:79135/e", source="MONDO:equivalentTo", source="Orphanet:79135"} @@ -231012,6 +236075,7 @@ property_value: confidence "1.333333333333333" xsd:double id: MONDO:0011683 name: oculocutaneous albinism type 4 def: "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79435] +subset: gard_rare {source="GARD:16722"} subset: ordo_disease {source="Orphanet:79435"} synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574] synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574] @@ -231021,6 +236085,7 @@ synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098] synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574] synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070098 {source="MONDO:equivalentTo"} +xref: GARD:16722 {source="Orphanet:79435"} xref: ICD10CM:E70.3 {source="Orphanet:79435", source="Orphanet:79435/attributed", source="Orphanet:79435/ntbt"} xref: MESH:C564696 {source="MONDO:equivalentTo"} xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="Orphanet:79435/e"} @@ -231069,11 +236134,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011686 name: DNA ligase IV deficiency def: "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." [Orphanet:99812] +subset: gard_rare {source="GARD:15000"} subset: ordo_disease {source="Orphanet:99812"} synonym: "DNA ligase IV deficiency" EXACT CLINGEN_PREFERRED [Orphanet:99812] synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593] synonym: "ligase 4 syndrome" EXACT [Orphanet:99812] xref: DOID:0060021 {source="MONDO:equivalentTo"} +xref: GARD:15000 {source="Orphanet:99812"} xref: ICD10CM:D81.1 {source="Orphanet:99812/attributed", source="Orphanet:99812/ntbt", source="Orphanet:99812"} xref: MESH:C564694 {source="MONDO:equivalentTo"} xref: NCIT:C122657 {source="MONDO:equivalentTo"} @@ -231095,7 +236162,7 @@ property_value: confidence "3.2857142857142856" xsd:double id: MONDO:0011687 name: Charcot-Marie-Tooth disease axonal type 2F def: "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." [Orphanet:99940] -subset: gard_rare +subset: gard_rare {source="GARD:9194"} subset: ordo_disease {source="Orphanet:99940"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163] synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194] @@ -231110,6 +236177,7 @@ synonym: "CMT 2F" RELATED [GARD:0009194] synonym: "CMT2F" EXACT ABBREVIATION [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940] synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110163 {source="MONDO:equivalentTo"} +xref: GARD:9194 {source="Orphanet:99940"} xref: ICD10CM:G60.0 {source="Orphanet:99940", source="Orphanet:99940/attributed", source="Orphanet:99940/ntbt", source="DOID:0110163"} xref: MESH:C535413 {source="MONDO:equivalentTo"} xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="Orphanet:99940/e", source="DOID:0110163"} @@ -231184,10 +236252,11 @@ relationship: disease_shares_features_of MONDO:0007542 {source="DC-OMIM:606631", [Term] id: MONDO:0011691 name: amyotrophic lateral sclerosis type 3 -subset: gard_rare {source="GARD:0010501"} +subset: gard_rare {source="GARD:10501"} synonym: "ALS3" RELATED ABBREVIATION [DOID:0060195, MONDO:Lexical, OMIM:606640] synonym: "amyotrophic lateral sclerosis 3" EXACT [DOID:0060195, MONDO:Lexical, OMIM:606640] xref: DOID:0060195 {source="MONDO:equivalentTo"} +xref: GARD:10501 {source="OMIM:606640"} xref: MESH:C564688 {source="MONDO:equivalentTo"} xref: OMIM:606640 {source="MONDO:equivalentTo", source="DOID:0060195"} xref: Orphanet:803 {source="OMIM:606640"} @@ -231220,6 +236289,7 @@ id: MONDO:0011694 name: spinocerebellar ataxia type 15/16 def: "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." [Orphanet:98769] comment: In orphanet, SCA16 is obsoleted in favor of 15/16 +subset: gard_rare {source="GARD:10477"} subset: ordo_disease {source="Orphanet:98769"} synonym: "SCA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606658] synonym: "SCA15/16" EXACT [Orphanet:98769] @@ -231234,6 +236304,7 @@ synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299] synonym: "spinocerebellar ataxia type 16" EXACT [MONDO:0000561] xref: DOID:0050965 {source="MONDO:equivalentTo"} xref: DOID:0050966 {source="MONDO:equivalentObsolete"} +xref: GARD:10477 {source="Orphanet:98769"} xref: ICD10CM:G11.2 {source="Orphanet:98769", source="Orphanet:98769/attributed", source="Orphanet:98769/ntbt"} xref: MESH:C564685 {source="MONDO:equivalentTo"} xref: NCIT:C150250 {source="MONDO:equivalentTo"} @@ -231251,10 +236322,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011695 name: melanoma, uveal, susceptibility to, 1 +subset: gard_rare {source="GARD:15394"} subset: predisposition synonym: "melanoma, uveal, susceptibility to, 1" EXACT [OMIM:606660] synonym: "melanoma, uveal, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606660] synonym: "UVM1" EXACT [OMIM:606660] +xref: GARD:15394 {source="OMIM:606660"} xref: OMIM:606660 {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="OMIM:606660"} xref: UMLS:C1847724 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606660"} @@ -231266,10 +236339,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011696 name: melanoma, uveal, susceptibility to, 2 +subset: gard_rare {source="GARD:15395"} subset: predisposition synonym: "melanoma, uveal, susceptibility to, 2" EXACT [OMIM:606661] synonym: "melanoma, uveal, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606661] synonym: "UVM2" EXACT [OMIM:606661] +xref: GARD:15395 {source="OMIM:606661"} xref: OMIM:606661 {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="OMIM:606661"} xref: UMLS:C1847723 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606661"} @@ -231282,10 +236357,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011697 name: Waardenburg syndrome type 2C def: "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23." [DOID:0110951, PMID:11810298, PMID:20127975] +subset: gard_rare {source="GARD:15396"} synonym: "Waardenburg syndrome type IIC" EXACT [DOID:0110951] synonym: "Waardenburg syndrome, type 2C" RELATED [MONDO:Lexical, OMIM:606662] synonym: "WS2C" EXACT ABBREVIATION [DOID:0110951, MONDO:Lexical, OMIM:606662] xref: DOID:0110951 {source="MONDO:equivalentTo"} +xref: GARD:15396 {source="OMIM:606662"} xref: MESH:C564684 {source="MONDO:equivalentTo"} xref: OMIM:606662 {source="DOID:0110951", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:606662"} @@ -231299,7 +236376,7 @@ property_value: confidence "0.058201058201058364" xsd:double id: MONDO:0011698 name: glycine N-methyltransferase deficiency def: "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases." [https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency] -subset: gard_rare {source="GARD:0010764"} +subset: gard_rare {source="GARD:10764"} subset: ordo_disease {source="Orphanet:289891"} synonym: "Glycine N-methyltransferase deficiency" EXACT [Orphanet:289891] synonym: "glycine N-methyltransferase deficiency" EXACT CLINGEN_PREFERRED [OMIM:606664] @@ -231307,6 +236384,7 @@ synonym: "GNMT deficiency" EXACT [DOID:0111037, OMIM:606664] synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891] xref: DOID:0111037 {source="MONDO:equivalentTo"} +xref: GARD:10764 {source="Orphanet:289891"} xref: ICD10CM:E72.1 {source="Orphanet:289891/attributed", source="Orphanet:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"} xref: OMIM:606664 {source="Orphanet:289891/e", source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037"} xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"} @@ -231367,6 +236445,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:606675", source="DOID:0110903", source="MES id: MONDO:0011702 name: dilated cardiomyopathy 1L def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15397"} synonym: "cardiomyopathy, dilated, 1L" RELATED [MONDO:Lexical, OMIM:606685] synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4, OMIM:606685] synonym: "CMD1L" EXACT ABBREVIATION [DOID:0110436, MONDO:Lexical, OMIM:606685] @@ -231374,6 +236453,7 @@ synonym: "dilated cardiomyopathy type 1L" EXACT [DOID:0110436, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in SGCD" EXACT [MONDO:design_pattern] synonym: "SGCD familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110436 {source="MONDO:equivalentTo"} +xref: GARD:15397 {source="OMIM:606685"} xref: ICD10CM:I42.0 {source="DOID:0110436"} xref: MESH:C564679 {source="MONDO:equivalentTo"} xref: OMIM:606685 {source="DOID:0110436", source="MONDO:equivalentTo"} @@ -231415,7 +236495,6 @@ is_obsolete: true id: MONDO:0011705 name: lymphangioleiomyomatosis def: "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." [NCIT:C3725] -subset: gard_rare {source="GARD:0003319"} subset: ordo_disease {source="Orphanet:538"} synonym: "LAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606690, Orphanet:538] synonym: "lung lymphangioleiomyomatosis" NARROW [DOID:3319] @@ -231442,6 +236521,7 @@ id: MONDO:0011706 name: Kufor-Rakeb syndrome def: "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." [Orphanet:306674] subset: clingen +subset: gard_rare {source="GARD:9174"} subset: ordo_disease {source="Orphanet:306674"} synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [DOID:0060556] synonym: "autosomal recessive Parkinson disease 9" EXACT [DOID:0060556] @@ -231457,6 +236537,7 @@ synonym: "Parkinson disease 9, autosomal recessive" RELATED [OMIM:606693] synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMIM:606693] synonym: "Parkinson disease type 9" RELATED [GARD:0009174] xref: DOID:0060556 {source="MONDO:equivalentTo"} +xref: GARD:9174 {source="Orphanet:306674"} xref: ICD10CM:G23.0 {source="Orphanet:306674/attributed", source="Orphanet:306674/ntbt", source="Orphanet:306674"} xref: MESH:C537177 {source="DOID:0060556", source="MONDO:equivalentTo"} xref: OMIM:606693 {source="Orphanet:306674/e", source="DOID:0060556", source="MONDO:equivalentTo", source="Orphanet:306674"} @@ -231483,6 +236564,7 @@ id: MONDO:0011708 name: autosomal dominant nonsyndromic hearing loss 36 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:18115"} synonym: "autosomal dominant deafness 36" NARROW [DOID:0110563] synonym: "autosomal dominant nonsyndromic deafness 36" NARROW [OMIM:606705] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] @@ -231492,6 +236574,7 @@ synonym: "deafness, autosomal dominant type 36" NARROW [MONDORULE:2, OMIM:606705 synonym: "DFNA36" NARROW ABBREVIATION [DOID:0110563, MONDO:Lexical, OMIM:606705] synonym: "TMC1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110563 {source="MONDO:equivalentTo"} +xref: GARD:18115 {source="OMIM:606705"} xref: ICD10CM:H90.3 {source="DOID:0110563"} xref: MESH:C564675 {source="MONDO:equivalentTo"} xref: OMIM:606705 {source="MONDO:equivalentTo", source="DOID:0110563"} @@ -231507,11 +236590,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011709 name: split hand-foot malformation 5 def: "Split-hand/foot malformation mapped to chromosome 2q31." [NCIT:C75002] +subset: gard_rare {source="GARD:15398"} synonym: "SHFM5" EXACT ABBREVIATION [DOID:0090022, MONDO:Lexical, OMIM:606708] synonym: "split hand-foot malformation type 5" EXACT [DOID:0090022, MONDORULE:1] synonym: "split-hand/foot malformation 5" RELATED [MONDO:Lexical, OMIM:606708] synonym: "split-hand/foot malformation type 5" EXACT [NCIT:C75002] xref: DOID:0090022 {source="MONDO:equivalentTo"} +xref: GARD:15398 {source="OMIM:606708"} xref: ICD10CM:Q71.6 {source="DOID:0090022"} xref: MESH:C564674 {source="MONDO:equivalentTo"} xref: NCIT:C75002 {source="MONDO:equivalentTo"} @@ -231552,13 +236637,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011712 name: van der Woude syndrome 2 def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0007846"} +subset: gard_rare {source="GARD:7846"} synonym: "GRHL3 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "VAN DER Woude syndrome 2" RELATED [OMIM:606713] synonym: "van der Woude syndrome 2" EXACT [MONDO:Lexical, OMIM:606713] synonym: "van der Woude syndrome caused by mutation in GRHL3" EXACT [MONDO:design_pattern] synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1, OMIM:606713] synonym: "VWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606713] +xref: GARD:7846 {source="OMIM:606713"} xref: MESH:C536529 {source="MONDO:equivalentTo"} xref: OMIM:606713 {source="MONDO:equivalentTo"} xref: Orphanet:888 {source="OMIM:606713"} @@ -231573,8 +236659,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7846/van-der [Term] id: MONDO:0011713 name: melanoma-pancreatic cancer syndrome +subset: gard_rare {source="GARD:18473"} synonym: "familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome" RELATED [OMIM:606719] synonym: "melanoma-pancreatic cancer syndrome" EXACT CLINGEN_PREFERRED [OMIM:606719] +xref: GARD:18473 {source="OMIM:606719"} xref: MESH:C563985 {source="MONDO:equivalentTo"} xref: NCIT:C176904 {source="MONDO:equivalentTo"} xref: OMIM:606719 {source="MONDO:equivalentTo"} @@ -231588,10 +236676,12 @@ property_value: confidence "1.6325000000000003" xsd:double [Term] id: MONDO:0011714 name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +subset: gard_rare {source="GARD:18038"} synonym: "LCCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606721] synonym: "lipodystrophy, familial partial, type 7" EXACT [OMIM:606721, OMIM:genemap2] synonym: "lipodystrophy, partial, with congenital cataracts and neurodegeneration" RELATED [OMIM:606721] synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" EXACT [MONDO:Lexical, OMIM:606721] +xref: GARD:18038 {source="OMIM:606721"} xref: OMIM:606721 {source="MONDO:equivalentTo"} xref: UMLS:C1847582 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807567 {source="OMIM:606721", source="MONDO:equivalentTo"} @@ -231603,6 +236693,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011715 name: Seckel syndrome 2 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15399"} synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013] synonym: "RBBP8 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL2" EXACT ABBREVIATION [DOID:0070013, MONDO:Lexical, OMIM:606744] @@ -231611,6 +236702,7 @@ synonym: "Seckel syndrome caused by mutation in RBBP8" EXACT [MONDO:design_patte synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1, OMIM:606744] synonym: "Seckel-type dwarfism 2" EXACT [DOID:0070013, OMIM:606744] xref: DOID:0070013 {source="MONDO:equivalentTo"} +xref: GARD:15399 {source="OMIM:606744"} xref: MESH:C537534 {source="MONDO:equivalentTo"} xref: OMIM:606744 {source="DOID:0070013", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:606744"} @@ -231628,7 +236720,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011716 name: acute hemorrhagic leukoencephalitis def: "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." [https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis] -subset: gard_rare {source="GARD:0008629"} synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [DOID:10992] synonym: "acute hemorrhagic encephalomyelitis" EXACT [DOID:10992] synonym: "acute hemorrhagic leukoencephalitis" EXACT [OMIM:606752] @@ -231654,7 +236745,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8629/acute-h id: MONDO:0011717 name: hyperinsulinism-hyperammonemia syndrome def: "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." [Orphanet:35878] -subset: gard_rare {source="GARD:0009931"} +subset: gard_rare {source="GARD:9931"} subset: ordo_disease {source="Orphanet:35878"} synonym: "GDH hyperinsulinism" EXACT [NCIT:C131832] synonym: "GLUD1 hyperinsulinism" EXACT [NCIT:C131832] @@ -231669,6 +236760,7 @@ synonym: "hyperinsulinism hyperammonemia syndrome" RELATED [GARD:0009931] synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT CLINGEN_PREFERRED [OMIM:606762] synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832] xref: DOID:0070217 {source="MONDO:equivalentTo"} +xref: GARD:9931 {source="Orphanet:35878"} xref: ICD10CM:E72.8 {source="Orphanet:35878", source="Orphanet:35878/attributed", source="Orphanet:35878/ntbt"} xref: MESH:C538375 {source="MONDO:equivalentTo"} xref: NCIT:C131832 {source="MONDO:equivalentTo"} @@ -231689,6 +236781,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9931/hyperin id: MONDO:0011718 name: primary ciliary dyskinesia 2 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15400"} synonym: "CILD2" EXACT ABBREVIATION [DOID:0110626, MONDO:Lexical, OMIM:606763] synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical, OMIM:606763] synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [OMIM:606763] @@ -231698,6 +236791,7 @@ synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [DO synonym: "primary ciliary dyskinesia caused by mutation in DNAAF3" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 2" EXACT [DOID:0110626, MONDORULE:1] xref: DOID:0110626 {source="MONDO:equivalentTo"} +xref: GARD:15400 {source="OMIM:606763"} xref: ICD10CM:Q34.8 {source="DOID:0110626"} xref: MESH:C535277 {source="MONDO:equivalentTo"} xref: OMIM:606763 {source="DOID:0110626", source="MONDO:equivalentTo"} @@ -231712,6 +236806,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011719 name: gastrointestinal stromal tumor def: "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." [Orphanet:44890] +subset: gard_rare {source="GARD:8598"} subset: ordo_disease {source="Orphanet:44890"} synonym: "gant" EXACT [DOID:9253, NCIT:C27940] synonym: "gastrointestinal stromal neoplasm" EXACT [NCIT:C3868] @@ -231727,6 +236822,7 @@ synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890] synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868] synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 [] xref: DOID:9253 {source="MONDO:equivalentTo"} +xref: GARD:8598 {source="Orphanet:44890"} xref: ICD10CM:C26.9 {source="Orphanet:44890", source="Orphanet:44890/attributed", source="Orphanet:44890/ntbt"} xref: ICDO:8936/1 {source="NCIT:C3868"} xref: MedDRA:10051066 {source="Orphanet:44890/e", source="Orphanet:44890"} @@ -231749,12 +236845,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011720 name: spermatogenic failure 3 def: "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18399"} synonym: "azoospermia caused by mutation in SLC26A8" EXACT [MONDO:design_pattern] synonym: "SLC26A8 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 3" EXACT [MONDO:Lexical, OMIM:606766] synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1, OMIM:606766] synonym: "SPGF3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606766] xref: DOID:0070168 {source="MONDO:equivalentTo"} +xref: GARD:18399 {source="OMIM:606766"} xref: MESH:C564665 {source="MONDO:equivalentTo"} xref: OMIM:606766 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:606766"} @@ -231770,11 +236868,13 @@ property_value: confidence "29.333333333333442" xsd:double [Term] id: MONDO:0011721 name: distal myopathy with anterior tibial onset +subset: gard_rare {source="GARD:17080"} subset: ordo_disease {source="Orphanet:178400"} synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400] synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606768] synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768] xref: DOID:0111187 {source="MONDO:equivalentTo"} +xref: GARD:17080 {source="Orphanet:178400"} xref: ICD10CM:G71.0 {source="Orphanet:178400/attributed", source="Orphanet:178400/ntbt", source="Orphanet:178400"} xref: MESH:C564664 {source="MONDO:equivalentTo"} xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source="Orphanet:178400/e"} @@ -231788,11 +236888,13 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0011722 name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome +subset: gard_rare {source="GARD:17648"} subset: ordo_disease {source="Orphanet:397973"} synonym: "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [OMIM:606772] synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [OMIM:606772] synonym: "MOMES syndrome" EXACT [Orphanet:397973] synonym: "Momes syndrome" RELATED [OMIM:606772] +xref: GARD:17648 {source="Orphanet:397973"} xref: ICD10CM:Q87.8 {source="Orphanet:397973", source="Orphanet:397973/attributed", source="Orphanet:397973/ntbt"} xref: MESH:C564660 {source="MONDO:equivalentTo"} xref: OMIM:606772 {source="MONDO:equivalentTo", source="Orphanet:397973", source="Orphanet:397973/e"} @@ -231808,11 +236910,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011723 name: hemifacial myohyperplasia def: "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." [https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia] -subset: gard_rare {source="GARD:0010084"} +subset: gard_rare {source="GARD:10084"} subset: ordo_malformation_syndrome {source="Orphanet:141148"} synonym: "hemifacial myohyperplasia" EXACT [MONDO:Lexical, OMIM:606773] synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606773] synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084] +xref: GARD:10084 {source="Orphanet:141148"} xref: ICD10CM:Q67.4 {source="Orphanet:141148", source="Orphanet:141148/ntbt"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"} @@ -231829,7 +236932,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10084/hemifa id: MONDO:0011724 name: encephalopathy due to GLUT1 deficiency def: "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." [Orphanet:71277] -subset: gard_rare +subset: gard_rare {source="GARD:9265"} subset: ordo_disease {source="Orphanet:71277"} synonym: "De Vivo disease" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277] synonym: "encephalopathy due to GLUT1 deficiency" EXACT [GARD:0009265, MESH:C536830] @@ -231852,6 +236955,7 @@ synonym: "GLUT1 DS" RELATED [GARD:0009265] synonym: "GLUT1-DS" EXACT [Orphanet:71277] synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:606777] xref: EFO:0009139 {source="MONDO:equivalentTo"} +xref: GARD:9265 {source="Orphanet:71277"} xref: ICD10CM:G93.4 {source="Orphanet:71277/attributed", source="Orphanet:71277/ntbt", source="Orphanet:71277"} xref: MESH:C536830 {source="MONDO:equivalentTo"} xref: OMIM:606777 {source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="Orphanet:71277/e"} @@ -231871,7 +236975,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9265/glucose id: MONDO:0011725 name: Crigler-Najjar syndrome type 2 def: "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." [Orphanet:79235] -subset: gard_rare {source="GARD:0008683"} +subset: gard_rare {source="GARD:8683"} subset: ordo_clinical_subtype {source="Orphanet:79235"} synonym: "Arias syndrome" EXACT [Orphanet:79235] synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [Orphanet:79235] @@ -231882,6 +236986,7 @@ synonym: "Crigler-Najjar syndrome, type II" RELATED [OMIM:606785] synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:79235] synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785] synonym: "UGT deficiency type 2" EXACT [Orphanet:79235] +xref: GARD:8683 {source="Orphanet:79235"} xref: ICD10CM:E80.5 {source="Orphanet:79235/attributed", source="Orphanet:79235/ntbt", source="Orphanet:79235"} xref: MedDRA:10011387 {source="Orphanet:79235/e", source="Orphanet:79235"} xref: MESH:C536213 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} @@ -231971,12 +237076,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011730 name: fumaric aciduria def: "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." [Orphanet:24] +subset: gard_rare {source="GARD:6476"} subset: ordo_disease {source="Orphanet:24"} synonym: "FMRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606812] synonym: "fumarase deficiency" EXACT [MONDO:Lexical, OMIM:606812, Orphanet:24] synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476] synonym: "fumaric aciduria" EXACT [OMIM:606812] xref: DOID:0111261 {source="MONDO:equivalentTo"} +xref: GARD:6476 {source="Orphanet:24"} xref: ICD10CM:E88.8 {source="Orphanet:24/attributed", source="Orphanet:24/ntbt", source="Orphanet:24"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538191 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} @@ -231995,7 +237102,7 @@ property_value: confidence "3.166666666666667" xsd:double id: MONDO:0011731 name: glucose-galactose malabsorption def: "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." [Orphanet:35710] -subset: gard_rare {source="GARD:0006521"} +subset: gard_rare {source="GARD:6521"} subset: ordo_disease {source="Orphanet:35710"} synonym: "carbohydrate intolerance of glucose galactose" RELATED [GARD:0006521] synonym: "Complex carbohydrate intolerance" RELATED [GARD:0006521] @@ -232005,6 +237112,7 @@ synonym: "glucose-galactose malabsorption" EXACT CLINGEN_PREFERRED [] synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824] synonym: "monosaccharide malabsorption" RELATED [OMIM:606824] synonym: "SGLT1 deficiency" EXACT [Orphanet:35710] +xref: GARD:6521 {source="Orphanet:35710"} xref: ICD10CM:E74.3 {source="Orphanet:35710", source="Orphanet:35710/attributed", source="Orphanet:35710/ntbt"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066388 {source="Orphanet:35710", source="Orphanet:35710/e"} @@ -232027,9 +237135,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6521/glucose id: MONDO:0011732 name: familial digital arthropathy-brachydactyly def: "Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." [Orphanet:85169] +subset: gard_rare {source="GARD:16735"} subset: ordo_malformation_syndrome {source="Orphanet:85169"} synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835] synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606835] +xref: GARD:16735 {source="Orphanet:85169"} xref: ICD10CM:M06.8 {source="Orphanet:85169", source="Orphanet:85169/attributed", source="Orphanet:85169/ntbt"} xref: MESH:C564656 {source="MONDO:equivalentTo"} xref: NCIT:C175208 {source="MONDO:equivalentTo"} @@ -232069,7 +237179,7 @@ is_a: MONDO:0003847 {source="MESH:C564655/inferred"} ! hereditary disease id: MONDO:0011735 name: hyper-IgM syndrome type 3 def: "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." [Wikipedia:Hyper-IgM_syndrome_type_3] -subset: gard_rare +subset: gard_rare {source="GARD:10579"} subset: ordo_clinical_subtype {source="Orphanet:101090"} synonym: "CD40 deficiency" RELATED [DOID:0060023] synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -232083,6 +237193,7 @@ synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023] synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM:606843] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023] xref: DOID:0060023 {source="MONDO:equivalentTo"} +xref: GARD:10579 {source="Orphanet:101090"} xref: ICD10CM:D80.5 {source="Orphanet:101090", source="Orphanet:101090/attributed", source="Orphanet:101090/ntbt"} xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="GARD:0010579", source="Orphanet:101090/e"} xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"} @@ -232107,9 +237218,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011737 name: parkinson disease 10 +subset: gard_rare {source="GARD:18607"} synonym: "PARK10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606852] synonym: "Parkinson disease 10" RELATED [MONDO:Lexical, OMIM:606852] synonym: "Parkinson disease, Age at onset of" RELATED [OMIM:606852] +xref: GARD:18607 {source="OMIM:606852"} xref: MESH:C564653 {source="MONDO:equivalentTo"} xref: OMIM:606852 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:606852"} @@ -232122,13 +237235,14 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0011738 name: bilateral frontoparietal polymicrogyria def: "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus." [https://www.clinicalgenome.org/affiliation/40020/] -subset: gard_rare {source="GARD:0010784"} +subset: gard_rare {source="GARD:10784"} subset: ordo_clinical_subtype {source="Orphanet:101070"} synonym: "BFPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606854] synonym: "bilateral frontoparietal polymicrogyria" EXACT CLINGEN_PREFERRED [] synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854] synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854] xref: DOID:0080922 {source="MONDO:equivalentTo"} +xref: GARD:10784 {source="Orphanet:101070"} xref: ICD10CM:Q04.3 {source="Orphanet:101070", source="Orphanet:101070/attributed", source="Orphanet:101070/ntbt"} xref: MESH:C564652 {source="MONDO:equivalentTo"} xref: NCIT:C148367 {source="MONDO:equivalentTo"} @@ -232146,6 +237260,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10784/bilate id: MONDO:0011739 name: pancreatic cancer, susceptibility to, 1 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15401"} subset: predisposition synonym: "familial pancreatic carcinoma caused by mutation in PALLD" EXACT [MONDO:design_pattern] synonym: "PALLD familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -232153,6 +237268,7 @@ synonym: "pancreatic cancer, susceptibility to, 1" EXACT [OMIM:606856] synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606856] synonym: "Pnca1" RELATED [OMIM:606856] synonym: "susceptibility to pancreatic cancer 1" RELATED [OMIM:606856] +xref: GARD:15401 {source="OMIM:606856"} xref: OMIM:606856 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:606856"} xref: UMLS:C1847351 {source="OMIM:606856", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -232165,6 +237281,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011740 name: Carney-Stratakis syndrome def: "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." [Orphanet:97286] +subset: gard_rare {source="GARD:10643"} subset: ordo_disease {source="Orphanet:97286"} synonym: "Carney dyad" EXACT [Orphanet:97286] synonym: "Carney-Stratakis dyad" EXACT [Orphanet:97286] @@ -232176,6 +237293,7 @@ synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864 synonym: "paraganglioma and gastrointestinal stromal tumour" RELATED OMO:0003005 [] synonym: "paraganglioma and gist" RELATED [GARD:0010643] xref: DOID:0080533 {source="MONDO:equivalentTo"} +xref: GARD:10643 {source="Orphanet:97286"} xref: ICD10CM:D44.8 {source="Orphanet:97286/attributed", source="Orphanet:97286/ntbt", source="Orphanet:97286"} xref: MESH:C564650 {source="MONDO:equivalentTo"} xref: NCIT:C94831 {source="MONDO:equivalentTo"} @@ -232190,9 +237308,11 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0011741 name: Hirschsprung disease, susceptibility to, 6 +subset: gard_rare {source="GARD:15402"} subset: predisposition synonym: "Hirschsprung disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:606874] synonym: "HSCR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606874] +xref: GARD:15402 {source="OMIM:606874"} xref: OMIM:606874 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:606874"} xref: UMLS:C1969837 {source="OMIM:606874", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -232202,9 +237322,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011742 name: Hirschsprung disease, susceptibility to, 7 +subset: gard_rare {source="GARD:15403"} subset: predisposition synonym: "Hirschsprung disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:606875] synonym: "HSCR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606875] +xref: GARD:15403 {source="OMIM:606875"} xref: OMIM:606875 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:606875"} xref: UMLS:C1969836 {source="OMIM:606875", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -232215,6 +237337,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011743 name: Alzheimer disease 4 def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." [NCIT:C123413] +subset: gard_rare {source="GARD:16511"} synonym: "AD4" EXACT ABBREVIATION [DOID:0110040] synonym: "Ad4" RELATED [OMIM:606889] synonym: "Alzheimer disease 4" EXACT [DOID:0110040, OMIM:606889] @@ -232228,6 +237351,7 @@ synonym: "Alzheimer's disease type 4" EXACT [DOID:0110040, MONDORULE:1] synonym: "familial Alzheimer disease, type 4" EXACT [NCIT:C123413] synonym: "familial Alzheimer's disease, type 4" EXACT [NCIT:C123413] xref: DOID:0110040 {source="MONDO:equivalentTo"} +xref: GARD:16511 {source="OMIM:606889"} xref: MESH:C536596 {source="MONDO:equivalentTo"} xref: NCIT:C123413 {source="MONDO:equivalentTo"} xref: OMIM:606889 {source="DOID:0110040", source="MONDO:equivalentTo"} @@ -232242,12 +237366,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011744 name: primary intraosseous venous malformation def: "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." [Orphanet:140436] +subset: gard_rare {source="GARD:16961"} subset: ordo_disease {source="Orphanet:140436"} synonym: "hemangioma, intraosseous" RELATED [OMIM:606893] synonym: "intraosseous hemangioma" EXACT [Orphanet:140436] synonym: "osseous venous malformation" EXACT [Orphanet:140436] synonym: "vascular malformation osseous" RELATED [OMIM:606893] synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893] +xref: GARD:16961 {source="Orphanet:140436"} xref: ICD10CM:D18.0 {source="Orphanet:140436/attributed", source="Orphanet:140436/ntbt", source="Orphanet:140436"} xref: MESH:C564648 {source="MONDO:equivalentTo"} xref: OMIM:606893 {source="Orphanet:140436/e", source="MONDO:equivalentTo", source="Orphanet:140436"} @@ -232261,7 +237387,6 @@ property_value: confidence "3.666666666666667" xsd:double [Term] id: MONDO:0011745 name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery -subset: gard_rare {source="GARD:0009227"} synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery" RELATED [GARD:0009227] synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" EXACT [OMIM:606894] xref: MESH:C535722 {source="MONDO:equivalentTo"} @@ -232273,7 +237398,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9227/duodeno [Term] id: MONDO:0011746 name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch -subset: gard_rare {source="GARD:0008554"} synonym: "distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" RELATED [GARD:0008554] synonym: "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" EXACT [OMIM:606895] xref: MESH:C538148 {source="MONDO:equivalentTo"} @@ -232299,6 +237423,7 @@ relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000- id: MONDO:0011748 name: Usher syndrome type 1G def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15404"} synonym: "USH1G" EXACT ABBREVIATION [DOID:0110834, MONDO:Lexical, OMIM:606943] synonym: "USH1G Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Usher syndrome caused by mutation in USH1G" EXACT [MONDO:design_pattern] @@ -232307,6 +237432,7 @@ synonym: "Usher syndrome type Ig" EXACT [DOID:0110834] synonym: "Usher syndrome, type 1G" RELATED [OMIM:606943] synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical, OMIM:606943] xref: DOID:0110834 {source="MONDO:equivalentTo"} +xref: GARD:15404 {source="OMIM:606943"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110834"} xref: MESH:C564643 {source="MONDO:equivalentTo"} xref: OMIM:606943 {source="DOID:0110834", source="MONDO:equivalentTo"} @@ -232325,7 +237451,7 @@ property_value: confidence "2.4444444444444438" xsd:double id: MONDO:0011749 name: oculocutaneous albinism type 1B def: "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." [Orphanet:79434] -subset: gard_rare {source="GARD:0000594"} +subset: gard_rare {source="GARD:594"} subset: ordo_clinical_subtype {source="Orphanet:79434"} synonym: "albinism, oculocutaneous, type 1B" RELATED [OMIM:606952] synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [OMIM:606952] @@ -232341,6 +237467,7 @@ synonym: "Yellow albinism" RELATED [OMIM:606952] synonym: "Yellow mutant albinism" RELATED [GARD:0000594] synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434] xref: DOID:0070095 {source="MONDO:equivalentTo"} +xref: GARD:594 {source="Orphanet:79434"} xref: ICD10CM:E70.3 {source="Orphanet:79434/attributed", source="Orphanet:79434/ntbt", source="Orphanet:79434"} xref: MESH:C537729 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434"} xref: OMIM:606952 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434", source="DOID:0070095"} @@ -232442,8 +237569,10 @@ property_value: confidence "0.5167548500881836" xsd:double [Term] id: MONDO:0011755 name: senior-loken syndrome 3 +subset: gard_rare {source="GARD:15405"} synonym: "SENIOR-Loken syndrome 3" RELATED [MONDO:Lexical, OMIM:606995] synonym: "SLSN3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606995] +xref: GARD:15405 {source="OMIM:606995"} xref: MESH:C564637 {source="MONDO:equivalentTo"} xref: OMIM:606995 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:606995"} @@ -232455,12 +237584,14 @@ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:6 id: MONDO:0011756 name: Senior-Loken syndrome 4 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15406"} synonym: "NPHP4 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SENIOR-Loken syndrome 4" RELATED [OMIM:606996] synonym: "Senior-Loken syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:606996] synonym: "Senior-Loken syndrome caused by mutation in NPHP4" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1, OMIM:606996] synonym: "SLSN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606996] +xref: GARD:15406 {source="OMIM:606996"} xref: MESH:C537581 {source="MONDO:equivalentTo"} xref: OMIM:606996 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:606996"} @@ -232474,9 +237605,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011757 name: brachydactyly type A1B +subset: gard_rare {source="GARD:15407"} synonym: "BDA1B" EXACT ABBREVIATION [DOID:0110974, MONDO:Lexical, OMIM:607004] synonym: "brachydactyly, type A1, B" RELATED [MONDO:Lexical, OMIM:607004] xref: DOID:0110974 {source="MONDO:equivalentTo"} +xref: GARD:15407 {source="OMIM:607004"} xref: MESH:C564635 {source="MONDO:equivalentTo"} xref: OMIM:607004 {source="DOID:0110974", source="MONDO:equivalentTo"} xref: Orphanet:93388 {source="OMIM:607004"} @@ -232489,6 +237622,7 @@ property_value: confidence "3.4285714285714297" xsd:double id: MONDO:0011758 name: Hurler syndrome def: "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." [Orphanet:93473] +subset: gard_rare {source="GARD:12559"} subset: ordo_clinical_subtype {source="Orphanet:93473"} synonym: "Hurler disease" EXACT [Orphanet:93473] synonym: "Hurler syndrome" EXACT CLINGEN_PREFERRED [OMIM:607014] @@ -232500,6 +237634,7 @@ synonym: "mucopolysaccharidosis IH" RELATED [GARD:0012559] synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473] synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473] xref: DOID:0111390 {source="MONDO:equivalentTo"} +xref: GARD:12559 {source="Orphanet:93473"} xref: ICD10CM:E76.0 {source="Orphanet:93473/attributed", source="Orphanet:93473/ntbt", source="Orphanet:93473"} xref: NCIT:C61261 {source="MONDO:equivalentTo"} xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="Orphanet:93473/e"} @@ -232522,6 +237657,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011759 name: Hurler-Scheie syndrome def: "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93476] +subset: gard_rare {source="GARD:12560"} subset: ordo_clinical_subtype {source="Orphanet:93476"} synonym: "Hurler-Scheie syndrome" EXACT CLINGEN_PREFERRED [OMIM:607015] synonym: "Hurler–Scheie syndrome" RELATED [GARD:0012560] @@ -232540,6 +237676,7 @@ synonym: "mucopolysaccharidosis, mps-I-s" EXACT [] synonym: "Scheie disease mps type 1s" RELATED [] synonym: "Scheie's syndrome" RELATED [] xref: DOID:0111389 {source="MONDO:equivalentTo"} +xref: GARD:12560 {source="Orphanet:93476"} xref: ICD10CM:E76.0 {source="Orphanet:93476/attributed", source="Orphanet:93476/ntbt", source="Orphanet:93476"} xref: MedDRA:10056916 {source="Orphanet:93476", source="Orphanet:93476/e"} xref: NCIT:C122782 {source="MONDO:equivalentTo"} @@ -232559,7 +237696,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011760 name: Scheie syndrome def: "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93474] -subset: gard_rare {source="GARD:0012561"} +subset: gard_rare {source="GARD:12561"} subset: ordo_clinical_subtype {source="Orphanet:93474"} synonym: "MPS I S" EXACT [NCIT:C61265] synonym: "MPS V" RELATED [OMIM:607016] @@ -232575,6 +237712,7 @@ synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222, OMIM:607016] synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016] synonym: "Scheie syndrome" EXACT CLINGEN_PREFERRED [OMIM:607016] xref: DOID:0060222 {source="MONDO:equivalentTo"} +xref: GARD:12561 {source="Orphanet:93474"} xref: ICD10CM:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="Orphanet:93474/attributed", source="Orphanet:93474/ntbt"} xref: NCIT:C61265 {source="MONDO:equivalentTo"} xref: OMIM:607016 {source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo", source="Orphanet:93474/e"} @@ -232593,12 +237731,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12561/scheie id: MONDO:0011761 name: autosomal dominant nonsyndromic hearing loss 21 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." [DOID:0110551, PMID:10764236] +subset: gard_rare {source="GARD:18116"} synonym: "autosomal dominant deafness 21" NARROW [DOID:0110551] synonym: "autosomal dominant nonsyndromic deafness 21" NARROW [OMIM:607017] synonym: "autosomal dominant nonsyndromic deafness type 21" NARROW [DOID:0110551, MONDORULE:2] synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical, OMIM:607017, OMIM:genemap2] synonym: "DFNA21" NARROW ABBREVIATION [DOID:0110551, MONDO:Lexical, OMIM:607017] xref: DOID:0110551 {source="MONDO:equivalentTo"} +xref: GARD:18116 {source="OMIM:607017"} xref: ICD10CM:H90.3 {source="DOID:0110551"} xref: MESH:C564634 {source="MONDO:equivalentTo"} xref: OMIM:607017 {source="MONDO:equivalentTo", source="DOID:0110551"} @@ -232611,6 +237751,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011762 name: autosomal recessive nonsyndromic hearing loss 22 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22601"} synonym: "autosomal recessive deafness 22" NARROW [DOID:0110480] synonym: "autosomal recessive nonsyndromic deafness 22" NARROW CLINGEN_PREFERRED [OMIM:607039] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" NARROW [MONDO:design_pattern] @@ -232620,6 +237761,7 @@ synonym: "deafness, autosomal recessive type 22" NARROW [MONDORULE:2, OMIM:60703 synonym: "DFNB22" NARROW ABBREVIATION [DOID:0110480, MONDO:Lexical, OMIM:607039] synonym: "OTOA autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110480 {source="MONDO:equivalentTo"} +xref: GARD:22601 {source="OMIM:607039"} xref: ICD10CM:H90.3 {source="DOID:0110480"} xref: MESH:C564633 {source="MONDO:equivalentTo"} xref: OMIM:607039 {source="DOID:0110480", source="MONDO:equivalentTo"} @@ -232644,6 +237786,7 @@ is_obsolete: true id: MONDO:0011764 name: autosomal dominant Parkinson disease 8 def: "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18476"} synonym: "autosomal dominant Parkinson disease 8" EXACT CLINGEN_PREFERRED [] synonym: "autosomal dominant Parkinson disease type 8" EXACT [DOID:0060371, MONDORULE:1] synonym: "autosomal dominant Parkinson's disease 8" RELATED [DOID:0060371] @@ -232653,6 +237796,7 @@ synonym: "Parkinson disease 8" EXACT [OMIM:607060, OMIM:genemap2] synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607060] synonym: "Parkinson disease caused by mutation in LRRK2" EXACT [MONDO:design_pattern] xref: DOID:0060371 {source="MONDO:equivalentTo"} +xref: GARD:18476 {source="OMIM:607060"} xref: OMIM:607060 {source="MONDO:equivalentTo", source="DOID:0060371"} xref: Orphanet:411602 {source="OMIM:607060"} xref: UMLS:C1846862 {source="OMIM:607060", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -232669,6 +237813,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011765 name: multiple epiphyseal dysplasia type 5 def: "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." [Orphanet:93311] +subset: gard_rare {source="GARD:9794"} subset: ordo_disease {source="Orphanet:93311"} synonym: "BHMED" EXACT ABBREVIATION [Orphanet:93311] synonym: "bilateral hereditary micro-epiphyseal dysplasia" EXACT [Orphanet:93311] @@ -232685,6 +237830,7 @@ synonym: "multiple epiphyseal dysplasia, MATN3 related" RELATED [GARD:0009794] synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078] synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311] xref: DOID:0070299 {source="MONDO:equivalentTo"} +xref: GARD:9794 {source="Orphanet:93311"} xref: ICD10CM:Q77.3 {source="Orphanet:93311/attributed", source="Orphanet:93311/ntbt", source="MONDO:relatedTo", source="Orphanet:93311"} xref: MESH:C535505 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} @@ -232702,9 +237848,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011766 name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome +subset: gard_rare {source="GARD:17034"} subset: ordo_malformation_syndrome {source="Orphanet:168563"} synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080] synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [OMIM:607080, OMIM:genemap2] +xref: GARD:17034 {source="Orphanet:168563"} xref: ICD10CM:Q56.1 {source="Orphanet:168563", source="Orphanet:168563/attributed", source="Orphanet:168563/ntbt"} xref: MESH:C567773 {source="MONDO:equivalentTo"} xref: OMIM:607080 {source="Orphanet:168563", source="MONDO:equivalentTo", source="Orphanet:168563/e"} @@ -232722,6 +237870,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011767 name: autosomal recessive nonsyndromic hearing loss 31 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22602"} synonym: "autosomal recessive deafness 31" NARROW [DOID:0110490] synonym: "autosomal recessive nonsyndromic deafness 31" NARROW CLINGEN_PREFERRED [OMIM:607084] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" NARROW [MONDO:design_pattern] @@ -232732,6 +237881,7 @@ synonym: "DFNB31" NARROW ABBREVIATION [DOID:0110490, MONDO:Lexical, OMIM:607084] synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084] synonym: "WHRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110490 {source="MONDO:equivalentTo"} +xref: GARD:22602 {source="OMIM:607084"} xref: ICD10CM:H90.3 {source="DOID:0110490"} xref: MESH:C564629 {source="MONDO:equivalentTo"} xref: OMIM:607084 {source="MONDO:equivalentTo", source="DOID:0110490"} @@ -232765,9 +237915,11 @@ replaced_by: MONDO:0019625 [Term] id: MONDO:0011770 name: aortic aneurysm, familial thoracic 2 +subset: gard_rare {source="GARD:15409"} synonym: "AAT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607087] synonym: "aortic aneurysm, familial thoracic 2" EXACT [MONDO:Lexical, OMIM:607087] synonym: "FAA2" RELATED ABBREVIATION [OMIM:607087] +xref: GARD:15409 {source="OMIM:607087"} xref: MESH:C564627 {source="MONDO:equivalentTo"} xref: OMIM:607087 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:607087"} @@ -232779,6 +237931,7 @@ property_value: confidence "0.014130103558823048" xsd:double id: MONDO:0011771 name: neuronopathy, distal hereditary motor, autosomal recessive 3 def: "A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." [Orphanet:139547] +subset: gard_rare {source="GARD:16956"} subset: ordo_disease {source="Orphanet:139547"} synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [Orphanet:139547] synonym: "dHMN3" RELATED [OMIM:607088] @@ -232795,6 +237948,7 @@ synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088] synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [OMIM:607088, OMIM:genemap2] synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088] xref: DOID:0111211 {source="MONDO:equivalentTo"} +xref: GARD:16956 {source="Orphanet:139547"} xref: ICD10CM:G12.2 {source="Orphanet:139547", source="Orphanet:139547/attributed", source="Orphanet:139547/ntbt"} xref: MESH:C564626 {source="MONDO:equivalentTo"} xref: OMIM:607088 {source="Orphanet:139547", source="MONDO:equivalentTo", source="Orphanet:139547/e"} @@ -232809,6 +237963,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011772 name: B4GALT1-congenital disorder of glycosylation def: "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." [Orphanet:79332] +subset: gard_rare {source="GARD:9841"} subset: ordo_disease {source="Orphanet:79332"} synonym: "B4GALT1-CDG" EXACT ABBREVIATION [Orphanet:79332] synonym: "B4GALT1-CDG (CDG-IId)" RELATED [GARD:0009841] @@ -232824,6 +237979,7 @@ synonym: "congenital disorder of glycosylation type 2d" EXACT [Orphanet:79332] synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332] synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091] xref: DOID:0070256 {source="MONDO:equivalentTo"} +xref: GARD:9841 {source="Orphanet:79332"} xref: ICD10CM:E77.8 {source="Orphanet:79332/attributed", source="Orphanet:79332/ntbt", source="Orphanet:79332"} xref: MESH:C535753 {source="MONDO:equivalentTo"} xref: OMIM:607091 {source="Orphanet:79332/e", source="MONDO:equivalentTo", source="Orphanet:79332"} @@ -232848,6 +238004,7 @@ id: MONDO:0011773 name: anauxetic dysplasia def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." [DOID:0050640, https://www.ncbi.nlm.nih.gov/books/NBK84550/] comment: Editor note: consider distinct subclass for type 1 +subset: gard_rare {source="GARD:9657"} subset: ordo_disease {source="Orphanet:93347"} subset: prototype_pattern synonym: "anauxetic dysplasia" EXACT [OMIM:607095] @@ -232861,6 +238018,7 @@ synonym: "spondylometaepiphyseal dysplasia Menger type" RELATED [GARD:0009657] synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095] synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640] xref: DOID:0080942 {source="MONDO:equivalentTo"} +xref: GARD:9657 {source="Orphanet:93347"} xref: ICD10CM:Q77.7 {source="Orphanet:93347", source="Orphanet:93347/attributed", source="Orphanet:93347/ntbt"} xref: MESH:C538256 {source="MONDO:equivalentTo", source="Orphanet:93347", source="Orphanet:93347/e"} xref: OMIMPS:607095 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -232875,6 +238033,7 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0011774 name: autosomal recessive nonsyndromic hearing loss 30 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22603"} synonym: "autosomal recessive deafness 30" NARROW [DOID:0110489] synonym: "autosomal recessive nonsyndromic deafness 30" NARROW CLINGEN_PREFERRED [OMIM:607101] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" NARROW [MONDO:design_pattern] @@ -232884,6 +238043,7 @@ synonym: "deafness, autosomal recessive type 30" NARROW [MONDORULE:2, OMIM:60710 synonym: "DFNB30" NARROW ABBREVIATION [DOID:0110489, MONDO:Lexical, OMIM:607101] synonym: "MYO3A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110489 {source="MONDO:equivalentTo"} +xref: GARD:22603 {source="OMIM:607101"} xref: ICD10CM:H90.3 {source="DOID:0110489"} xref: MESH:C564624 {source="MONDO:equivalentTo"} xref: OMIM:607101 {source="DOID:0110489", source="MONDO:equivalentTo"} @@ -232928,6 +238088,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011776 name: CINCA syndrome def: "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." [Orphanet:1451] +subset: gard_rare {source="GARD:1356"} subset: ordo_disease {source="Orphanet:1451"} synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380] synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029, Orphanet:1451] @@ -232949,6 +238110,7 @@ synonym: "NOMID syndrome" EXACT [DOID:0090029, Orphanet:1451] synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356] synonym: "Prieur-Griscelli syndrome" EXACT [DOID:0090029, Orphanet:1451] xref: DOID:0090029 {source="MONDO:equivalentTo"} +xref: GARD:1356 {source="Orphanet:1451"} xref: ICD10CM:E85.0 {source="Orphanet:1451", source="Orphanet:1451/attributed", source="Orphanet:1451/ntbt", source="DOID:0090029"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116380 {source="MONDO:equivalentTo"} @@ -232969,6 +238131,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011777 name: Alzheimer disease 8 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." [DOID:0110041, PMID:9008509] +subset: gard_rare {source="GARD:16512"} synonym: "AD8" EXACT ABBREVIATION [DOID:0110041] synonym: "Ad8" RELATED [OMIM:607116] synonym: "Alzheimer disease 8" EXACT [DOID:0110041, OMIM:607116] @@ -232978,6 +238141,7 @@ synonym: "Alzheimer disease, familial, 8" RELATED [OMIM:607116] synonym: "Alzheimer's disease 8" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 8" EXACT [DOID:0110041, MONDORULE:1] xref: DOID:0110041 {source="MONDO:equivalentTo"} +xref: GARD:16512 {source="OMIM:607116"} xref: ICD10CM:G30 {source="DOID:0110041"} xref: MESH:C564622 {source="MONDO:equivalentTo"} xref: OMIM:607116 {source="MONDO:equivalentTo", source="DOID:0110041"} @@ -232990,6 +238154,7 @@ property_value: confidence "1.7975949917804632" xsd:double id: MONDO:0011778 name: multiple epiphyseal dysplasia, Al-Gazali type def: "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." [Orphanet:166024] +subset: gard_rare {source="GARD:17014"} subset: ordo_disease {source="Orphanet:166024"} synonym: "AGBK" RELATED ABBREVIATION [OMIM:607131] synonym: "AL-Gazali-BAKALINOVA syndrome" RELATED [OMIM:607131] @@ -232997,6 +238162,7 @@ synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131] synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131] synonym: "Mmedf" RELATED [OMIM:607131] synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024] +xref: GARD:17014 {source="Orphanet:166024"} xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"} xref: MESH:C564621 {source="MONDO:equivalentTo"} xref: OMIM:607131 {source="Orphanet:166024", source="MONDO:equivalentTo", source="Orphanet:166024/e"} @@ -233034,6 +238200,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011781 name: spinocerebellar ataxia type 17 def: "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." [Orphanet:98759] +subset: gard_rare {source="GARD:10469"} subset: ordo_disease {source="Orphanet:98759"} synonym: "cerebelloparenchymal disorder II" EXACT [MONDO:Lexical, OMIM:213100] synonym: "CPD, late-onset recessive type" RELATED [OMIM:213100] @@ -233050,6 +238217,7 @@ synonym: "SCA17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607136, Orphanet:98759] synonym: "spinocerebellar ataxia 17" EXACT [MONDO:Lexical, OMIM:607136] synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136] xref: DOID:0050967 {source="MONDO:equivalentTo"} +xref: GARD:10469 {source="Orphanet:98759"} xref: ICD10CM:G11.8 {source="Orphanet:98759", source="Orphanet:98759/attributed", source="Orphanet:98759/ntbt"} xref: MESH:C563505 {source="MONDO:equivalentTo"} xref: MESH:C564616 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -233093,6 +238261,7 @@ is_a: MONDO:0005283 {source="DOID:13401", source="MESH:D000793"} ! retinal disor id: MONDO:0011783 name: ALG12-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." [Orphanet:79324] +subset: gard_rare {source="GARD:9833"} subset: ordo_disease {source="Orphanet:79324"} synonym: "ALG12-CDG" EXACT ABBREVIATION [Orphanet:79324] synonym: "ALG12-CDG (CDG-Ig)" RELATED [GARD:0009833] @@ -233109,6 +238278,7 @@ synonym: "congenital disorder of glycosylation type Ig" EXACT [Orphanet:79324] synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, OMIM:607143] synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324] xref: DOID:0080559 {source="MONDO:equivalentTo"} +xref: GARD:9833 {source="Orphanet:79324"} xref: ICD10CM:E77.8 {source="Orphanet:79324/attributed", source="Orphanet:79324/ntbt", source="Orphanet:79324"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535745 {source="MONDO:equivalentTo"} @@ -233129,12 +238299,14 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0011784 name: Moyamoya disease 2 def: "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15410"} synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, OMIM:607151] synonym: "moyamoya disease 2, susceptibility to" EXACT [OMIM:607151, OMIM:genemap2] synonym: "Moyamoya disease caused by mutation in RNF213" EXACT [MONDO:design_pattern] synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1, OMIM:607151] synonym: "MYMY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607151] synonym: "RNF213 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15410 {source="OMIM:607151"} xref: MESH:C536992 {source="MONDO:equivalentTo"} xref: NCIT:C183312 {source="MONDO:equivalentTo"} xref: OMIM:607151 {source="MONDO:equivalentTo"} @@ -233151,6 +238323,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011785 name: hereditary spastic paraplegia 19 def: "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." [Orphanet:100999] +subset: gard_rare {source="GARD:9588"} subset: ordo_disease {source="Orphanet:100999"} synonym: "autosomal dominant spastic paraplegia 19" EXACT [DOID:0110772] synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772] @@ -233159,6 +238332,7 @@ synonym: "spastic paraplegia 19" RELATED [GARD:0009588] synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607152] synonym: "SPG19" EXACT ABBREVIATION [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999] xref: DOID:0110772 {source="MONDO:equivalentTo"} +xref: GARD:9588 {source="Orphanet:100999"} xref: ICD10CM:G11.4 {source="Orphanet:100999/attributed", source="Orphanet:100999/ntbt", source="Orphanet:100999", source="DOID:0110772"} xref: MESH:C536856 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999"} xref: OMIM:607152 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999", source="DOID:0110772"} @@ -233207,6 +238381,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011787 name: autosomal recessive limb-girdle muscular dystrophy type 2I def: "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." [Orphanet:34515] +subset: gard_rare {source="GARD:12533"} subset: ordo_disease {source="Orphanet:34515"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern] synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -233224,6 +238399,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5" EXACT [O synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [DOID:0110299] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155] xref: DOID:0110299 {source="MONDO:equivalentTo"} +xref: GARD:12533 {source="Orphanet:34515"} xref: ICD10CM:G71.0 {source="Orphanet:34515/inclusion", source="Orphanet:34515/ntbt", source="Orphanet:34515", source="DOID:0110299"} xref: MESH:C564612 {source="MONDO:equivalentTo"} xref: NCIT:C126739 {source="MONDO:equivalentTo"} @@ -233246,8 +238422,10 @@ property_value: confidence "21.666666666666735" xsd:double id: MONDO:0011788 name: cloverleaf skull-multiple congenital anomalies syndrome def: "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." [Orphanet:93267] +subset: gard_rare {source="GARD:16811"} subset: ordo_malformation_syndrome {source="Orphanet:93267"} synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161] +xref: GARD:16811 {source="Orphanet:93267"} xref: ICD10CM:Q87.8 {source="Orphanet:93267/attributed", source="Orphanet:93267/ntbt", source="Orphanet:93267"} xref: MESH:C564611 {source="MONDO:equivalentTo"} xref: OMIM:607161 {source="Orphanet:93267", source="MONDO:equivalentTo", source="Orphanet:93267/e"} @@ -233264,6 +238442,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011789 name: familial meningioma def: "A meningioma that is transmitted from the parents to an offspring." [NCIT:P378] +subset: gard_rare {source="GARD:18385"} synonym: "familial meningioma" EXACT CLINGEN_PREFERRED [NCIT:C5301] synonym: "hereditary meningioma" EXACT [NCIT:C5301] synonym: "hereditary meningioma (disease)" EXACT [MONDO:patterns/hereditary] @@ -233273,6 +238452,7 @@ synonym: "meningioma, NF2-related, somatic" EXACT [OMIM:607174, OMIM:genemap2] synonym: "meningioma, SIS-related" EXACT [OMIM:607174, OMIM:genemap2] synonym: "susceptibility to familial meningioma" RELATED [OMIM:607174] xref: DOID:4586 {source="MONDO:equivalentTo"} +xref: GARD:18385 {source="OMIM:607174"} xref: MESH:C537443 {source="DOID:4586", source="MONDO:equivalentTo"} xref: NCIT:C5301 {source="DOID:4586", source="MONDO:equivalentTo"} xref: OMIM:607174 {source="DOID:4586", source="MONDO:equivalentTo"} @@ -233289,12 +238469,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011790 name: Amish lethal microcephaly def: "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." [Orphanet:99742] -subset: gard_rare {source="GARD:0008606"} +subset: gard_rare {source="GARD:8606"} subset: ordo_malformation_syndrome {source="Orphanet:99742"} synonym: "Amish lethal microcephaly" EXACT [OMIM:607196] synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607196] synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196] synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196] +xref: GARD:8606 {source="Orphanet:99742"} xref: ICD10CM:Q02 {source="Orphanet:99742", source="Orphanet:99742/attributed", source="Orphanet:99742/ntbt"} xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} @@ -233317,6 +238498,7 @@ replaced_by: MONDO:0019588 id: MONDO:0011792 name: thyroid dyshormonogenesis 6 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18193"} synonym: "DUOX2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOX2" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [OMIM:607200] @@ -233325,6 +238507,7 @@ synonym: "thyroid dyshormonogenesis 6" EXACT [MONDO:Lexical, OMIM:607200] synonym: "thyroid dyshormonogenesis type 6" EXACT [MONDORULE:1, OMIM:607200] synonym: "thyroid hormonogenesis, genetic defect in, 6" RELATED [OMIM:607200] xref: DOID:0112189 {source="MONDO:equivalentTo"} +xref: GARD:18193 {source="OMIM:607200"} xref: MESH:C564608 {source="MONDO:equivalentTo"} xref: OMIM:607200 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:607200"} @@ -233356,7 +238539,9 @@ id: MONDO:0011794 name: obsolete Dravet syndrome def: "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." [Orphanet:33069] comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 +subset: gard_rare {source="GARD:10430"} subset: ordo_disease {source="Orphanet:33069"} +xref: GARD:10430 {source="MONDO:obsoleteEquivalent", source="Orphanet:33069"} xref: ICD10CM:G40.4 {source="Orphanet:33069/attributed", source="Orphanet:33069/ntbt", source="Orphanet:33069"} xref: Orphanet:33069 {source="MONDO:obsoleteEquivalent", source="OMIM:607208"} property_value: confidence "6.200000000000001" xsd:double @@ -233367,13 +238552,14 @@ replaced_by: MONDO:0100135 id: MONDO:0011795 name: anonychia-microcephaly syndrome def: "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." [Orphanet:1094] -subset: gard_rare +subset: gard_rare {source="GARD:5123"} subset: ordo_malformation_syndrome {source="Orphanet:1094"} synonym: "anonychia total with microcephaly" RELATED [GARD:0000709] synonym: "anonychia, total, with microcephaly" RELATED [OMIM:607214] synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094] synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709] synonym: "total anonychia with microcephaly" RELATED [GARD:0000709] +xref: GARD:5123 {source="Orphanet:1094"} xref: ICD10CM:Q87.8 {source="Orphanet:1094/attributed", source="Orphanet:1094/ntbt", source="Orphanet:1094"} xref: MESH:C536948 {source="Orphanet:1094/e", source="Orphanet:1094"} xref: OMIM:607214 {source="GARD:0000709", source="Orphanet:1094/e", source="MONDO:equivalentTo", source="Orphanet:1094"} @@ -233402,11 +238588,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011797 name: infantile-onset ascending hereditary spastic paralysis def: "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." [Orphanet:293168] -subset: gard_rare {source="GARD:0004914"} +subset: gard_rare {source="GARD:4914"} subset: ordo_disease {source="Orphanet:293168"} synonym: "IAHSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607225, Orphanet:293168] synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914] synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225] +xref: GARD:4914 {source="Orphanet:293168"} xref: ICD10CM:G12.2 {source="Orphanet:293168", source="Orphanet:293168/attributed", source="Orphanet:293168/ntbt"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537217 {source="MONDO:equivalentTo"} @@ -233437,12 +238624,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011799 name: autosomal recessive nonsyndromic hearing loss 33 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." [DOID:0110492, PMID:12080392] +subset: gard_rare {source="GARD:22604"} synonym: "autosomal recessive deafness 33" NARROW [DOID:0110492] synonym: "autosomal recessive nonsyndromic deafness 33" NARROW [OMIM:607239] synonym: "autosomal recessive nonsyndromic deafness type 33" NARROW [DOID:0110492, MONDORULE:2] synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical, OMIM:607239, OMIM:genemap2] synonym: "DFNB33" NARROW ABBREVIATION [DOID:0110492, MONDO:Lexical, OMIM:607239] xref: DOID:0110492 {source="MONDO:equivalentTo"} +xref: GARD:22604 {source="OMIM:607239"} xref: ICD10CM:H90.3 {source="DOID:0110492"} xref: MESH:C564602 {source="MONDO:equivalentTo"} xref: OMIM:607239 {source="MONDO:equivalentTo", source="DOID:0110492"} @@ -233467,6 +238656,7 @@ property_value: confidence "0.6200000000000001" xsd:double id: MONDO:0011801 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 def: "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." [Orphanet:94124] +subset: gard_rare {source="GARD:10000"} subset: ordo_disease {source="Orphanet:94124"} synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" BROAD [DOID:0090115] synonym: "SCAN1" EXACT ABBREVIATION [DOID:0090115, MONDO:Lexical, OMIM:607250, Orphanet:94124] @@ -233477,6 +238667,7 @@ synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [Orphane synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" BROAD [OMIM:607250] synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" EXACT CLINGEN_PREFERRED [] xref: DOID:0090115 {source="MONDO:equivalentTo"} +xref: GARD:10000 {source="Orphanet:94124"} xref: ICD10CM:G60.2 {source="Orphanet:94124/attributed", source="Orphanet:94124/ntbt", source="Orphanet:94124", source="DOID:0090115"} xref: MESH:C537313 {source="MONDO:equivalentTo"} xref: OMIM:607250 {source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115", source="Orphanet:94124/e"} @@ -233492,10 +238683,12 @@ property_value: confidence "22.333333333333336" xsd:double [Term] id: MONDO:0011802 name: hypercalciuria, absorptive, 1 +subset: gard_rare {source="GARD:18584"} synonym: "Hca1" RELATED [OMIM:607258] synonym: "hypercalciuria, absorptive" EXACT [OMIM:607258, OMIM:genemap2] synonym: "hypercalciuria, absorptive, 1" EXACT [OMIM:607258] synonym: "hypercalciuria, absorptive, type 1" EXACT [MONDORULE:1, OMIM:607258] +xref: GARD:18584 {source="OMIM:607258"} xref: MESH:C564600 {source="MONDO:equivalentTo"} xref: OMIM:607258 {source="MONDO:equivalentTo"} xref: Orphanet:2197 {source="OMIM:607258"} @@ -233508,6 +238701,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011803 name: hereditary spastic paraplegia 7 def: "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." [Orphanet:99013] +subset: gard_rare {source="GARD:4927"} subset: ordo_disease {source="Orphanet:99013"} synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816] synonym: "hereditary spastic paraplegia 7" EXACT CLINGEN_PREFERRED [] @@ -233520,6 +238714,7 @@ synonym: "spastic paraplegia type 7" EXACT [DOID:0110816] synonym: "SPG7" EXACT ABBREVIATION [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013] synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110816 {source="MONDO:equivalentTo"} +xref: GARD:4927 {source="Orphanet:99013"} xref: ICD10CM:G11.4 {source="Orphanet:99013/attributed", source="Orphanet:99013/ntbt", source="DOID:0110816", source="Orphanet:99013"} xref: MESH:C564599 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:607259 {source="Orphanet:99013/e", source="MONDO:equivalentTo", source="DOID:0110816", source="Orphanet:99013"} @@ -233539,6 +238734,7 @@ property_value: confidence "22.33333333333334" xsd:double id: MONDO:0011804 name: autoimmune lymphoproliferative syndrome type 2B def: "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." [Orphanet:275517] +subset: gard_rare {source="GARD:9796"} subset: ordo_disease {source="Orphanet:275517"} synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517] synonym: "ALPS2B" EXACT ABBREVIATION [DOID:0110116] @@ -233555,6 +238751,7 @@ synonym: "caspase-8 deficiency" RELATED [GARD:0009796] synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, Orphanet:275517] synonym: "Ceds" RELATED [OMIM:607271] xref: DOID:0110116 {source="MONDO:equivalentTo"} +xref: GARD:9796 {source="Orphanet:275517"} xref: ICD10CM:D47.9 {source="DOID:0110116", source="Orphanet:275517/attributed", source="Orphanet:275517/ntbt", source="Orphanet:275517"} xref: OMIM:607271 {source="DOID:0110116", source="Orphanet:275517/e", source="MONDO:equivalentTo", source="Orphanet:275517"} xref: Orphanet:275517 {source="DOID:0110116", source="MONDO:equivalentTo", source="OMIM:607271"} @@ -233592,6 +238789,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011806 name: osteofibrous dysplasia def: "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." [NCIT:C53970] +subset: gard_rare {source="GARD:10887"} subset: ordo_disease synonym: "cortical fibrous dysplasia" EXACT [NCIT:C53970] synonym: "Kempson-Campanacci lesion" EXACT [NCIT:C53970] @@ -233602,6 +238800,7 @@ synonym: "osteofibrous dysplasia" EXACT [OMIM:607278] synonym: "osteofibrous dysplasia of bone" EXACT [NCIT:C53970] synonym: "osteofibrous dysplasia, susceptibility to" RELATED [OMIM:607278] synonym: "tibia, bowing of, with pseudarthrosis and pectus excavatum" EXACT [OMIM:609143] +xref: GARD:10887 {source="Orphanet:488265"} xref: MESH:C563276 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C563787 {source="MONDO:equivalentTo"} xref: NCIT:C53970 {source="MONDO:equivalentTo"} @@ -233635,6 +238834,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011808 name: cataract 27 def: "A cataract that has material basis in mutation in the region 2p12." [DOID:0110233, PMID:12091400] +subset: gard_rare {source="GARD:18235"} synonym: "cataract 27" EXACT [MONDO:Lexical, OMIM:607304] synonym: "cataract 27 nuclear progressive" EXACT [DOID:0110233] synonym: "cataract 27, nuclear progressive" RELATED [OMIM:607304] @@ -233642,6 +238842,7 @@ synonym: "cataract type 27" EXACT [DOID:0110233, MONDORULE:2] synonym: "Ccnp" RELATED [OMIM:607304] synonym: "CTRCT27" EXACT ABBREVIATION [DOID:0110233, MONDO:Lexical, OMIM:607304] xref: DOID:0110233 {source="MONDO:equivalentTo"} +xref: GARD:18235 {source="OMIM:607304"} xref: ICD10CM:Q12.0 {source="DOID:0110233"} xref: MESH:C564596 {source="MONDO:equivalentTo"} xref: OMIM:607304 {source="MONDO:equivalentTo", source="DOID:0110233"} @@ -233666,7 +238867,7 @@ is_obsolete: true id: MONDO:0011810 name: horizontal gaze palsy with progressive scoliosis def: "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." [Orphanet:2744] -subset: gard_rare {source="GARD:0012682"} +subset: gard_rare {source="GARD:12682"} subset: ordo_disease {source="Orphanet:2744"} subset: prototype_pattern synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical, OMIM:607313] @@ -233674,6 +238875,7 @@ synonym: "gaze palsy, horizontal, with progressive scoliosis" RELATED [GARD:0012 synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607313, Orphanet:2744] synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313] synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744] +xref: GARD:12682 {source="Orphanet:2744"} xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564593 {source="MONDO:equivalentTo"} @@ -233693,6 +238895,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12682/horizo id: MONDO:0011811 name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome def: "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." [Orphanet:95434] +subset: gard_rare {source="GARD:4952"} subset: ordo_disease {source="Orphanet:95434"} synonym: "SCAR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607317, Orphanet:95434] synonym: "SCASI" EXACT ABBREVIATION [Orphanet:95434] @@ -233703,6 +238906,7 @@ synonym: "spinocerebellar ataxia autosomal recessive 4" RELATED [GARD:0004952] synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317] synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317] xref: DOID:0111611 {source="MONDO:equivalentTo"} +xref: GARD:4952 {source="Orphanet:95434"} xref: ICD10CM:G11.1 {source="Orphanet:95434/attributed", source="Orphanet:95434/ntbt", source="Orphanet:95434"} xref: MESH:C537310 {source="MONDO:equivalentTo"} xref: OMIM:607317 {source="Orphanet:95434", source="MONDO:equivalentTo", source="Orphanet:95434/e"} @@ -233715,7 +238919,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011812 name: Duane-radial ray syndrome def: "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." [Orphanet:93293] -subset: gard_rare {source="GARD:0009182"} +subset: gard_rare {source="GARD:16551", source="GARD:9182"} subset: ordo_malformation_syndrome {source="Orphanet:959", source="Orphanet:93293"} synonym: "acro-renal-ocular syndrome" EXACT [MONDO:0019863] synonym: "acrorenocular syndrome" EXACT [DOID:0060747, OMIM:607323] @@ -233726,6 +238930,8 @@ synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [DOID: synonym: "Duane-radial ray syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:607323, Orphanet:93293] synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323] xref: DOID:0060747 {source="MONDO:equivalentTo"} +xref: GARD:16551 {source="Orphanet:959"} +xref: GARD:9182 {source="Orphanet:93293"} xref: ICD10CM:Q87.8 {source="Orphanet:93293/attributed", source="Orphanet:93293/ntbt", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/attributed", source="Orphanet:959/ntbt", source="Orphanet:93293"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:607323 {source="Orphanet:93293/e", source="MONDO:equivalentTo", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/ntbt", source="Orphanet:93293"} @@ -233751,10 +238957,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9182/duane-r [Term] id: MONDO:0011813 name: polydactyly, postaxial, type A3 +subset: gard_rare {source="GARD:18174"} synonym: "PAPA3" RELATED ABBREVIATION [OMIM:607324] synonym: "Papa3" RELATED [OMIM:607324] synonym: "polydactyly, postaxial, type A3" EXACT [OMIM:607324] synonym: "postaxial polydactyly, type A3" RELATED [OMIM:607324] +xref: GARD:18174 {source="OMIM:607324"} xref: MESH:C564590 {source="MONDO:equivalentTo"} xref: OMIM:607324 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:607324"} @@ -233766,6 +238974,7 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0011814 name: Smith-McCort dysplasia 1 def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15411"} synonym: "DYM Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMC" RELATED ABBREVIATION [OMIM:607326] synonym: "Smc1" RELATED [MONDO:Lexical, OMIM:607326] @@ -233775,6 +238984,7 @@ synonym: "Smith-McCort dysplasia 1" EXACT [MONDO:Lexical, OMIM:607326] synonym: "Smith-McCort dysplasia caused by mutation in DYM" EXACT [MONDO:design_pattern] synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1, OMIM:607326] xref: DOID:0081270 {source="MONDO:equivalentTo"} +xref: GARD:15411 {source="OMIM:607326"} xref: OMIM:607326 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="OMIM:607326"} xref: UMLS:C1846431 {source="OMIM:607326", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -233805,11 +239015,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011816 name: lathosterolosis def: "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." [Orphanet:46059] -subset: gard_rare {source="GARD:0009711"} +subset: gard_rare {source="GARD:9711"} subset: ordo_disease {source="Orphanet:46059"} synonym: "lathosterolosis" EXACT [OMIM:607330] synonym: "Sc5D deficiency" RELATED [OMIM:607330] synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059] +xref: GARD:9711 {source="Orphanet:46059"} xref: ICD10CM:Q87.8 {source="Orphanet:46059/attributed", source="Orphanet:46059/ntbt", source="Orphanet:46059"} xref: MESH:C537880 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: OMIM:607330 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} @@ -233851,7 +239062,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011818 name: isolated focal cortical dysplasia type II -subset: gard_rare +subset: gard_rare {source="GARD:10190"} subset: ordo_clinical_subtype {source="Orphanet:268994"} synonym: "CDT" RELATED ABBREVIATION [GARD:0010190] synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190, OMIM:607341] @@ -233876,6 +239087,7 @@ synonym: "focal cortical dysplasia, type 2B" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type II" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type II, somatic" EXACT [OMIM:607341, OMIM:genemap2] synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994] +xref: GARD:10190 {source="Orphanet:268994"} xref: ICD10CM:Q04.8 {source="Orphanet:268994/attributed", source="Orphanet:268994/ntbt", source="Orphanet:268994"} xref: MESH:C537067 {source="MONDO:equivalentTo"} xref: OMIM:607341 {source="Orphanet:268994", source="MONDO:equivalentTo", source="Orphanet:268994/e", source="GARD:0010190"} @@ -233897,6 +239109,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10190/focal- id: MONDO:0011819 name: spinocerebellar ataxia type 19/22 def: "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." [Orphanet:98772] +subset: gard_rare {source="GARD:12365"} subset: ordo_disease {source="Orphanet:98772"} synonym: "SCA19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607346] synonym: "SCA19/22" EXACT [Orphanet:98772] @@ -233905,6 +239118,7 @@ synonym: "spinocerebellar ataxia 19 and 22" RELATED [GARD:0012365] synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346] synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346] xref: DOID:0050970 {source="MONDO:equivalentTo"} +xref: GARD:12365 {source="Orphanet:98772"} xref: ICD10CM:G11.2 {source="Orphanet:98772/attributed", source="Orphanet:98772/ntbt", source="Orphanet:98772"} xref: MESH:C537198 {source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"} xref: MESH:C542540 {source="MONDO:equivalentTo"} @@ -233935,7 +239149,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011821 name: Meckel syndrome, type 3 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0008744"} +subset: gard_rare {source="GARD:8744"} synonym: "Meckel syndrome 3" RELATED [DOID:0070117] synonym: "Meckel syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 3" RELATED [GARD:0008744] @@ -233944,6 +239158,7 @@ synonym: "Meckel-Gruber syndrome, type 3" EXACT [DOID:0070117, OMIM:607361] synonym: "MKS3" EXACT ABBREVIATION [DOID:0070117, MONDO:Lexical, OMIM:607361] synonym: "TMEM67 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070117 {source="MONDO:equivalentTo"} +xref: GARD:8744 {source="OMIM:607361"} xref: ICD10CM:Q61.9 {source="DOID:0070117"} xref: MESH:C536132 {source="MONDO:equivalentTo"} xref: OMIM:607361 {source="MONDO:equivalentTo", source="DOID:0070117"} @@ -233962,6 +239177,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8744/meckel- id: MONDO:0011822 name: Bartter disease type 3 def: "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:93605] +subset: gard_rare {source="GARD:9659"} subset: ordo_clinical_subtype {source="Orphanet:93605"} synonym: "adult Bartter syndrome" EXACT [Orphanet:93605] synonym: "BARTS3" EXACT ABBREVIATION [DOID:0110144] @@ -233974,6 +239190,7 @@ synonym: "Bartter syndrome, type 3" RELATED [OMIM:607364] synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364] synonym: "classic Bartter syndrome" EXACT [DOID:0110144] xref: DOID:0110144 {source="MONDO:equivalentTo"} +xref: GARD:9659 {source="Orphanet:93605"} xref: ICD10CM:E26.8 {source="Orphanet:93605/attributed", source="Orphanet:93605/ntbt", source="Orphanet:93605", source="DOID:0110144"} xref: OMIM:607364 {source="Orphanet:93605/e", source="MONDO:equivalentTo", source="Orphanet:93605", source="DOID:0110144"} xref: Orphanet:112 {source="OMIM:607364"} @@ -233989,11 +239206,12 @@ property_value: confidence "0.11111111111111116" xsd:double id: MONDO:0011823 name: developmental malformations-deafness-dystonia syndrome def: "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome." [Orphanet:79107] -subset: gard_rare +subset: gard_rare {source="GARD:9818"} subset: ordo_malformation_syndrome {source="Orphanet:79107"} synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "juvenile-onset dystonia" RELATED [GARD:0009818] +xref: GARD:9818 {source="Orphanet:79107"} xref: ICD10CM:Q87.8 {source="Orphanet:79107/attributed", source="Orphanet:79107/ntbt", source="Orphanet:79107"} xref: MESH:C537704 {source="MONDO:equivalentTo"} xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="Orphanet:79107/e"} @@ -234035,12 +239253,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011826 name: glucocorticoid deficiency 2 def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15412"} synonym: "familial glucocorticoid deficiency 2" RELATED [OMIM:607398] synonym: "familial glucocorticoid deficiency caused by mutation in MRAP" EXACT [MONDO:design_pattern] synonym: "GCCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607398] synonym: "glucocorticoid deficiency 2" EXACT [MONDO:Lexical, OMIM:607398] synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1, OMIM:607398] synonym: "MRAP familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15412 {source="OMIM:607398"} xref: MESH:C564577 {source="MONDO:equivalentTo"} xref: NCIT:C123728 {source="MONDO:equivalentTo"} xref: OMIM:607398 {source="MONDO:equivalentTo"} @@ -234056,7 +239276,6 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0011827 name: patent ductus arteriosus def: "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." [NCIT:P378] -subset: gard_rare {source="GARD:0007342"} subset: prototype_pattern synonym: "ductus arteriosus, patent" RELATED [DOID:13832] synonym: "patency of the ductus arteriosus" RELATED [GARD:0007342] @@ -234087,6 +239306,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7342/patent- id: MONDO:0011828 name: intellectual disability, autosomal recessive 2 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22538"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN" EXACT [MONDO:design_pattern] synonym: "CRBN autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:607417] @@ -234097,6 +239317,7 @@ synonym: "mental retardation, autosomal recessive 2A" RELATED DEPRECATED [OMIM:6 synonym: "mental retardation, autosomal recessive type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:607417] synonym: "MRT2" RELATED DEPRECATED [MONDO:Lexical, OMIM:607417] xref: DOID:0081178 {source="MONDO:equivalentTo"} +xref: GARD:22538 {source="OMIM:607417"} xref: MESH:C564404 {source="MONDO:equivalentTo"} xref: OMIM:607417 {source="MONDO:equivalentTo"} xref: UMLS:C1843942 {source="OMIM:607417", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -234110,6 +239331,7 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0011829 name: coenzyme Q10 deficiency, primary, 1 def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18378"} synonym: "coenzyme Q deficiency 1" RELATED [OMIM:607426] synonym: "coenzyme Q10 deficiency caused by mutation in COQ2" EXACT [MONDO:design_pattern] synonym: "coenzyme Q10 deficiency, primary, 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:607426] @@ -234120,6 +239342,7 @@ synonym: "COQ10D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607426] synonym: "COQ2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ubiquinone deficiency 1" RELATED [OMIM:607426] xref: DOID:0070238 {source="MONDO:equivalentTo"} +xref: GARD:18378 {source="OMIM:607426"} xref: OMIM:607426 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:607426"} xref: UMLS:C1843920 {source="MONDO:ncbi_mim2gene_medline"} @@ -234134,6 +239357,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0011830 name: lissencephaly due to LIS1 mutation def: "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." [Orphanet:95232] +subset: gard_rare {source="GARD:16838"} subset: ordo_disease {source="Orphanet:95232"} synonym: "LIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607432] synonym: "lissencephaly 1" RELATED [MONDO:Lexical, OMIM:607432] @@ -234144,6 +239368,7 @@ synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232] synonym: "subcortical band heterotopia" RELATED [OMIM:607432] synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432] xref: DOID:0112237 {source="MONDO:equivalentTo"} +xref: GARD:16838 {source="Orphanet:95232"} xref: ICD10CM:Q04.3 {source="Orphanet:95232", source="Orphanet:95232/attributed", source="Orphanet:95232/ntbt"} xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="Orphanet:95232/e"} xref: Orphanet:95232 {source="MONDO:equivalentTo", source="OMIM:607432"} @@ -234187,6 +239412,7 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0011832 name: autosomal dominant nonsyndromic hearing loss 44 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18118"} synonym: "autosomal dominant deafness 44" NARROW [DOID:0110569] synonym: "autosomal dominant nonsyndromic deafness 44" NARROW [OMIM:607453] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" NARROW [MONDO:design_pattern] @@ -234196,6 +239422,7 @@ synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical, OMIM:607453, O synonym: "deafness, autosomal dominant type 44" NARROW [MONDORULE:2, OMIM:607453] synonym: "DFNA44" NARROW ABBREVIATION [DOID:0110569, MONDO:Lexical, OMIM:607453] xref: DOID:0110569 {source="MONDO:equivalentTo"} +xref: GARD:18118 {source="OMIM:607453"} xref: ICD10CM:H90.3 {source="DOID:0110569"} xref: MESH:C564399 {source="MONDO:equivalentTo"} xref: OMIM:607453 {source="DOID:0110569", source="MONDO:equivalentTo"} @@ -234212,11 +239439,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011833 name: spinocerebellar ataxia type 21 def: "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." [Orphanet:98773] +subset: gard_rare {source="GARD:9999"} subset: ordo_disease {source="Orphanet:98773"} synonym: "SCA21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607454, Orphanet:98773] synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454] synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454] xref: DOID:0050972 {source="MONDO:equivalentTo"} +xref: GARD:9999 {source="Orphanet:98773"} xref: ICD10CM:G11.1 {source="Orphanet:98773", source="Orphanet:98773/attributed", source="Orphanet:98773/ntbt"} xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="Orphanet:98773/e"} @@ -234232,6 +239461,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0011834 name: spinocerebellar ataxia type 18 def: "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." [Orphanet:98771] +subset: gard_rare {source="GARD:9976"} subset: ordo_disease {source="Orphanet:98771"} synonym: "SCA18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607458, Orphanet:98771] synonym: "sensorimotor neuropathy with ataxia autosomal dominant" RELATED [GARD:0009976] @@ -234239,6 +239469,7 @@ synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [OMIM synonym: "SMNA" RELATED ABBREVIATION [GARD:0009976] synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458] xref: DOID:0050969 {source="MONDO:equivalentTo"} +xref: GARD:9976 {source="Orphanet:98771"} xref: ICD10CM:G11.8 {source="Orphanet:98771/attributed", source="Orphanet:98771/ntbt", source="Orphanet:98771"} xref: MESH:C537197 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"} xref: OMIM:607458 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="DOID:0050969", source="Orphanet:98771"} @@ -234253,6 +239484,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0011835 name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis def: "A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." [Orphanet:70595] +subset: gard_rare {source="GARD:17671", source="GARD:9998"} subset: ordo_disease {source="Orphanet:70595", source="Orphanet:402082"} synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical, OMIM:613832] synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [OMIM:607459] @@ -234270,6 +239502,8 @@ synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" EXACT [OM synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATED [Orphanet:70595] synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459] xref: DOID:0111276 {source="MONDO:equivalentTo"} +xref: GARD:17671 {source="Orphanet:402082"} +xref: GARD:9998 {source="Orphanet:70595"} xref: ICD10CM:G40.3 {source="Orphanet:402082", source="Orphanet:402082/attributed", source="Orphanet:402082/ntbt"} xref: ICD10CM:G71.3 {source="Orphanet:70595/attributed", source="Orphanet:70595/ntbt", source="Orphanet:70595"} xref: MESH:C537583 {source="Orphanet:70595", source="Orphanet:70595/e"} @@ -234294,6 +239528,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011836 name: thyroid Hurthle cell carcinoma +subset: gard_rare {source="GARD:9428"} synonym: "follicular thyroid cancer, Hurthle cell type" RELATED [GARD:0009428] synonym: "Hurthle cell thyroid cancer" RELATED [GARD:0009428] synonym: "Hurthle cell thyroid neoplasia" RELATED [OMIM:607464] @@ -234302,6 +239537,7 @@ synonym: "thyroid cancer, follicular, Hurthle cell type" RELATED [GARD:0009428] synonym: "thyroid cancer, Hurthle cell" RELATED [GARD:0009428] synonym: "thyroid carcinoma, Hurthle cell" RELATED [OMIM:607464] xref: DOID:8161 {source="MONDO:equivalentTo"} +xref: GARD:9428 {source="OMIM:607464"} xref: MESH:C536913 {source="DOID:8161", source="MONDO:equivalentTo"} xref: NCIT:C4946 {source="MONDO:relatedTo", source="DOID:8161"} xref: OMIM:607464 {source="DOID:8161", source="MONDO:equivalentTo"} @@ -234318,12 +239554,14 @@ property_value: confidence "1.198067632850242" xsd:double id: MONDO:0011837 name: vitamin K-dependent clotting factors, combined deficiency of, type 2 def: "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18196"} synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern] synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDO:Lexical, MONDORULE:1, OMIM:607473] synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 2" EXACT CLINGEN_PREFERRED [] synonym: "VKCFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607473] synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112174 {source="MONDO:equivalentTo"} +xref: GARD:18196 {source="OMIM:607473"} xref: MESH:C564393 {source="MONDO:equivalentTo"} xref: OMIM:607473 {source="MONDO:equivalentTo"} xref: UMLS:C1843832 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607473"} @@ -234336,12 +239574,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011838 name: Bothnia retinal dystrophy def: "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." [Orphanet:85128] +subset: gard_rare {source="GARD:16734"} subset: ordo_disease {source="Orphanet:85128"} synonym: "Bothnia retinal dystrophy" EXACT [OMIM:607475] synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475] synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128] synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128] xref: DOID:0050683 {source="MONDO:equivalentTo"} +xref: GARD:16734 {source="Orphanet:85128"} xref: ICD10CM:H35.5 {source="Orphanet:85128", source="MONDO:directSiblingOf", source="Orphanet:85128/attributed", source="Orphanet:85128/ntbt"} xref: MESH:C564392 {source="MONDO:equivalentTo"} xref: OMIM:607475 {source="DOID:0050683", source="MONDO:equivalentTo", source="Orphanet:85128", source="Orphanet:85128/e"} @@ -234375,6 +239615,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011840 name: dilated cardiomyopathy 1M def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15413"} synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical, OMIM:607482] synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4, OMIM:607482] synonym: "CMD1M" EXACT ABBREVIATION [DOID:0110449, MONDO:Lexical, OMIM:607482] @@ -234382,6 +239623,7 @@ synonym: "CSRP3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pa synonym: "dilated cardiomyopathy type 1M" EXACT [DOID:0110449, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] xref: DOID:0110449 {source="MONDO:equivalentTo"} +xref: GARD:15413 {source="OMIM:607482"} xref: ICD10CM:I42.0 {source="DOID:0110449"} xref: MESH:C564390 {source="MONDO:equivalentTo"} xref: OMIM:607482 {source="DOID:0110449", source="MONDO:equivalentTo"} @@ -234393,6 +239635,7 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0011841 name: biotin-responsive basal ganglia disease +subset: gard_rare {source="GARD:17097", source="GARD:10237"} subset: ordo_disease {source="Orphanet:199348", source="Orphanet:65284"} synonym: "basal ganglia disease, biotin-responsive" RELATED [OMIM:607483] synonym: "BBGD" EXACT ABBREVIATION [Orphanet:65284] @@ -234404,6 +239647,8 @@ synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-respon synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050] synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607483] xref: DOID:0050659 {source="MONDO:equivalentTo"} +xref: GARD:10237 {source="Orphanet:65284"} +xref: GARD:17097 {source="Orphanet:199348"} xref: ICD10CM:G25.8 {source="Orphanet:65284", source="Orphanet:65284/attributed", source="Orphanet:65284/ntbt"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537658 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="Orphanet:65284"} @@ -234681,6 +239926,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011855 name: granular corneal dystrophy type II def: "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." [Orphanet:98963] +subset: gard_rare {source="GARD:9278"} subset: ordo_disease {source="Orphanet:98963"} synonym: "ACD" RELATED ABBREVIATION [OMIM:607541] synonym: "Avellino corneal dystrophy" EXACT [OMIM:607541, Orphanet:98963] @@ -234699,6 +239945,7 @@ synonym: "granular corneal dystrophy, type 2" RELATED [OMIM:607541] synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278] synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963] xref: DOID:0060444 {source="MONDO:equivalentTo"} +xref: GARD:9278 {source="Orphanet:98963"} xref: ICD10CM:H18.5 {source="Orphanet:98963", source="Orphanet:98963/attributed", source="Orphanet:98963/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535474 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"} @@ -234714,11 +239961,13 @@ property_value: confidence "26.499999999999996" xsd:double [Term] id: MONDO:0011856 name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome +subset: gard_rare {source="GARD:8719"} subset: ordo_disease {source="Orphanet:168552"} synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543] synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719] synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543] xref: DOID:0112305 {source="MONDO:equivalentTo"} +xref: GARD:8719 {source="Orphanet:168552"} xref: ICD10CM:Q77.8 {source="Orphanet:168552", source="Orphanet:168552/attributed", source="Orphanet:168552/ntbt"} xref: MESH:C535791 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} xref: OMIM:607543 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} @@ -234731,11 +239980,13 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0011857 name: atrial fibrillation, familial, 3 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15414"} synonym: "ATFB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607554] synonym: "atrial fibrillation, familial, 3" EXACT [MONDO:Lexical, OMIM:607554] synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1, OMIM:607554] synonym: "familial atrial fibrillation caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] synonym: "KCNQ1 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15414 {source="OMIM:607554"} xref: MESH:C563817 {source="MONDO:equivalentTo"} xref: OMIM:607554 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:607554"} @@ -234767,9 +240018,11 @@ replaced_by: MONDO:0011362 [Term] id: MONDO:0011860 name: leprosy, susceptibility to, 2 +subset: gard_rare {source="GARD:15415"} subset: predisposition synonym: "leprosy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607572] synonym: "LPRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607572] +xref: GARD:15415 {source="OMIM:607572"} xref: OMIM:607572 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:607572"} xref: UMLS:C1843632 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607572"} @@ -234792,6 +240045,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011862 name: hereditary spastic paraplegia 24 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." [DOID:0110775, PMID:12499481] +subset: gard_rare {source="GARD:9296"} subset: ordo_disease {source="Orphanet:101004"} synonym: "autosomal recessive spastic paraplegia 24" EXACT [DOID:0110775] synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775] @@ -234800,6 +240054,7 @@ synonym: "spastic paraplegia 24" RELATED [GARD:0009296] synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607584] synonym: "SPG24" EXACT ABBREVIATION [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004] xref: DOID:0110775 {source="MONDO:equivalentTo"} +xref: GARD:9296 {source="Orphanet:101004"} xref: ICD10CM:G11.4 {source="Orphanet:101004/attributed", source="Orphanet:101004/ntbt", source="DOID:0110775", source="Orphanet:101004"} xref: MESH:C564375 {source="MONDO:equivalentTo"} xref: OMIM:607584 {source="DOID:0110775", source="Orphanet:101004", source="MONDO:equivalentTo", source="Orphanet:101004/e"} @@ -234849,6 +240104,7 @@ replaced_by: MONDO:0008289 id: MONDO:0011866 name: pontocerebellar hypoplasia type 1A def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15416"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" EXACT [MONDO:design_pattern] synonym: "Pch1" RELATED [OMIM:607596] synonym: "PCH1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607596] @@ -234857,6 +240113,7 @@ synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" REL synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical, OMIM:607596] synonym: "VRK1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060265 {source="MONDO:equivalentTo"} +xref: GARD:15416 {source="OMIM:607596"} xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="DOID:0060265", source="OMIM:607596"} xref: UMLS:C1843504 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:607596"} @@ -234880,7 +240137,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011868 name: lethal congenital contracture syndrome 2 def: "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." [Orphanet:137776] -subset: gard_rare {source="GARD:0009177"} +subset: gard_rare {source="GARD:9177"} subset: ordo_malformation_syndrome {source="Orphanet:137776"} synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCCS2" EXACT ABBREVIATION [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776] @@ -234892,6 +240149,7 @@ synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:000 synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776] xref: DOID:0060560 {source="MONDO:equivalentTo"} +xref: GARD:9177 {source="Orphanet:137776"} xref: ICD10CM:Q68.8 {source="DOID:0060560", source="Orphanet:137776", source="Orphanet:137776/attributed", source="Orphanet:137776/ntbt"} xref: MESH:C564369 {source="DOID:0060560", source="MONDO:equivalentTo"} xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="MONDO:equivalentTo", source="Orphanet:137776/e"} @@ -234928,12 +240186,14 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011870 name: annular epidermolytic ichthyosis def: "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." [Orphanet:281139] +subset: gard_rare {source="GARD:17304"} subset: ordo_disease {source="Orphanet:281139"} synonym: "AEI" EXACT ABBREVIATION [Orphanet:281139] synonym: "Ciehk" RELATED [OMIM:607602] synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602] synonym: "ichthyosis, annular epidermolytic" EXACT [OMIMPS:607602] synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602] +xref: GARD:17304 {source="Orphanet:281139"} xref: ICD10CM:Q80.3 {source="Orphanet:281139/attributed", source="Orphanet:281139/ntbt", source="Orphanet:281139"} xref: MESH:C564367 {source="MONDO:equivalentTo"} xref: OMIMPS:607602 {source="MONDO:equivalentTo"} @@ -234950,7 +240210,7 @@ property_value: confidence "2.5590909090909095" xsd:double id: MONDO:0011871 name: Niemann-Pick disease type B def: "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" [Orphanet:77293] -subset: gard_rare {source="GARD:0010729"} +subset: gard_rare {source="GARD:10729"} subset: ordo_disease {source="Orphanet:77293"} synonym: "Niemann Pick disease type B" RELATED [GARD:0010729] synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [OMIM:607616] @@ -234959,6 +240219,7 @@ synonym: "Niemann-Pick disease, type E" RELATED [OMIM:607616] synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616] synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866] xref: DOID:0070112 {source="MONDO:equivalentTo"} +xref: GARD:10729 {source="Orphanet:77293"} xref: ICD10CM:E75.2 {source="Orphanet:77293/inclusion", source="DOID:0070112", source="Orphanet:77293", source="Orphanet:77293/ntbt"} xref: ICD10CM:E75.241 {source="MONDO:equivalentTo"} xref: MESH:D052537 {source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} @@ -234984,7 +240245,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10729/nieman id: MONDO:0011872 name: Griscelli syndrome type 2 def: "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." [https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2] -subset: gard_rare {source="GARD:0004483"} +subset: gard_rare {source="GARD:4483"} subset: ordo_clinical_subtype {source="Orphanet:79477"} synonym: "Griscelli disease type 2" RELATED [Orphanet:79477] synonym: "Griscelli syndrome type 2" EXACT CLINGEN_PREFERRED [] @@ -234999,6 +240260,7 @@ synonym: "PAID syndrome" EXACT [DOID:0060833] synonym: "Paid syndrome" RELATED [OMIM:607624] synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624] xref: DOID:0060833 {source="MONDO:equivalentTo"} +xref: GARD:4483 {source="Orphanet:79477"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"} xref: MESH:C537302 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: NCIT:C111814 {source="MONDO:equivalentTo"} @@ -235022,7 +240284,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4483/griscel id: MONDO:0011873 name: Niemann-Pick disease, type C2 def: "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2] -subset: gard_rare {source="GARD:0003992"} synonym: "Niemann-Pick disease type C2" RELATED [GARD:0003992] synonym: "Niemann-PICK disease, type C2" RELATED [OMIM:607625] synonym: "Niemann-Pick disease, type C2" EXACT [MONDO:Lexical, OMIM:607625] @@ -235046,6 +240307,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3992/niemann id: MONDO:0011874 name: neonatal ichthyosis-sclerosing cholangitis syndrome def: "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." [Orphanet:59303] +subset: gard_rare {source="GARD:10583"} subset: ordo_disease {source="Orphanet:59303"} synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [OMIM:607626] synonym: "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" EXACT [Orphanet:59303] @@ -235056,6 +240318,7 @@ synonym: "Ilvasc" RELATED [OMIM:607626] synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626] synonym: "NISCH syndrome" EXACT [Orphanet:59303] synonym: "Nisch syndrome" RELATED [OMIM:607626] +xref: GARD:10583 {source="Orphanet:59303"} xref: MESH:C564365 {source="MONDO:equivalentTo"} xref: OMIM:607626 {source="Orphanet:59303/e", source="MONDO:equivalentTo", source="Orphanet:59303"} xref: Orphanet:59303 {source="OMIM:607626", source="MONDO:equivalentTo"} @@ -235108,6 +240371,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011876 name: juvenile absence epilepsy def: "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." [Orphanet:1941] +subset: gard_rare {source="GARD:2162"} subset: ordo_disease {source="Orphanet:1941"} subset: predisposition synonym: "EJA1" RELATED ABBREVIATION [OMIM:607631] @@ -235117,6 +240381,7 @@ synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [MONDORUL synonym: "JAE" EXACT ABBREVIATION [Orphanet:1941] synonym: "susceptibility to juvenile absence epilepsy 1" RELATED [OMIM:607631] xref: DOID:0060172 {source="MONDO:equivalentTo"} +xref: GARD:2162 {source="Orphanet:1941"} xref: ICD10CM:G40.3 {source="Orphanet:1941", source="Orphanet:1941/attributed", source="Orphanet:1941/ntbt"} xref: MESH:C535495 {source="Orphanet:1941", source="Orphanet:1941/e"} xref: NCIT:C129868 {source="MONDO:equivalentTo"} @@ -235137,6 +240402,7 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0011877 name: autosomal dominant osteopetrosis 1 def: "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." [Orphanet:2783] +subset: gard_rare {source="GARD:4151"} subset: ordo_malformation_syndrome {source="Orphanet:2783"} synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1] synonym: "LRP5 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -235147,6 +240413,7 @@ synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:6076 synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607634] synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634] xref: DOID:0110937 {source="MONDO:equivalentTo"} +xref: GARD:4151 {source="Orphanet:2783"} xref: ICD10CM:Q78.2 {source="Orphanet:2783/ntbt", source="Orphanet:2783", source="DOID:0110937", source="Orphanet:2783/inclusion"} xref: MESH:C536056 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} xref: OMIM:607634 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} @@ -235172,6 +240439,7 @@ replaced_by: MONDO:0007764 id: MONDO:0011879 name: neuronopathy, distal hereditary motor, type 7B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18270"} synonym: "DCTN1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Dhmn7B" RELATED [OMIM:607641] synonym: "HMN 7B" RELATED [OMIM:607641] @@ -235182,6 +240450,7 @@ synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexic synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [OMIM:607641] synonym: "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B" RELATED [OMIM:607641] xref: DOID:0111202 {source="MONDO:equivalentTo"} +xref: GARD:18270 {source="OMIM:607641"} xref: MESH:C564362 {source="MONDO:equivalentTo"} xref: OMIM:607641 {source="MONDO:equivalentTo"} xref: Orphanet:139589 {source="OMIM:607641"} @@ -235196,10 +240465,12 @@ property_value: confidence "0.519607843137255" xsd:double [Term] id: MONDO:0011880 name: candidiasis, familial, 3 +subset: gard_rare {source="GARD:15418"} synonym: "CANDF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607644] synonym: "candidiasis, familial chronic nail, with Icam1 deficiency" RELATED [OMIM:607644] synonym: "candidiasis, familial, 3" EXACT [MONDO:Lexical, OMIM:607644] synonym: "Fcnc" RELATED [OMIM:607644] +xref: GARD:15418 {source="OMIM:607644"} xref: MESH:C564361 {source="MONDO:equivalentTo"} xref: OMIM:607644 {source="MONDO:equivalentTo"} xref: UMLS:C1843306 {source="OMIM:607644", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -235209,7 +240480,7 @@ is_a: MONDO:0015279 {source="OMIM:607644"} ! chronic mucocutaneous candidiasis id: MONDO:0011881 name: keratosis palmoplantaris striata 3 def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009173"} +subset: gard_rare {source="GARD:9173"} synonym: "keratoderma palmoplantar striate form 3" RELATED [GARD:0009173] synonym: "keratoderma, palmoplantar, striate form 3" RELATED [OMIM:607654] synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical, OMIM:607654] @@ -235219,6 +240490,7 @@ synonym: "PPKS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607654] synonym: "striate palmoplantar keratoderma 3" RELATED [OMIM:607654] synonym: "striate palmoplantar keratoderma caused by mutation in KRT1" EXACT [MONDO:design_pattern] xref: DOID:0081110 {source="MONDO:equivalentTo"} +xref: GARD:9173 {source="OMIM:607654"} xref: MESH:C536163 {source="MONDO:equivalentTo"} xref: OMIM:607654 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="OMIM:607654"} @@ -235234,13 +240506,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9173/keratos [Term] id: MONDO:0011882 name: skin fragility-woolly hair-palmoplantar keratoderma syndrome -subset: gard_rare {source="GARD:0005231"} +subset: gard_rare {source="GARD:5231"} subset: ordo_disease {source="Orphanet:293165"} synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607655] synonym: "skin fragility woolly hair syndrome" RELATED OMO:0003005 [] synonym: "skin fragility wooly hair syndrome" RELATED [GARD:0005231] synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655] synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165] +xref: GARD:5231 {source="Orphanet:293165"} xref: ICD10CM:Q82.8 {source="Orphanet:293165", source="Orphanet:293165/attributed", source="Orphanet:293165/ntbt"} xref: MESH:C564359 {source="MONDO:equivalentTo"} xref: OMIM:607655 {source="MONDO:equivalentTo", source="Orphanet:293165", source="Orphanet:293165/e"} @@ -235257,12 +240530,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5231/skin-fr id: MONDO:0011883 name: Curly hair - acral keratoderma - caries syndrome def: "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." [Orphanet:307766] -subset: gard_rare {source="GARD:0010163"} +subset: gard_rare {source="GARD:10163"} subset: ordo_disease {source="Orphanet:307766"} synonym: "Chac syndrome" EXACT [Orphanet:307766] synonym: "CHACS" EXACT ABBREVIATION [Orphanet:307766] synonym: "Chacs" RELATED [OMIM:607656] synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656] +xref: GARD:10163 {source="Orphanet:307766"} xref: ICD10CM:Q82.8 {source="Orphanet:307766/attributed", source="Orphanet:307766/ntbt", source="Orphanet:307766"} xref: MESH:C536220 {source="MONDO:equivalentTo"} xref: OMIM:607656 {source="Orphanet:307766/e", source="MONDO:equivalentTo", source="Orphanet:307766"} @@ -235277,6 +240551,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10163/curly- id: MONDO:0011884 name: hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome def: "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." [Orphanet:307936] +subset: gard_rare {source="GARD:17384"} subset: ordo_disease {source="Orphanet:307936"} synonym: "HOPP syndrome" EXACT [Orphanet:307936] synonym: "Hopp syndrome" RELATED [OMIM:607658] @@ -235284,6 +240559,7 @@ synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syn synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658] synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] +xref: GARD:17384 {source="Orphanet:307936"} xref: ICD10CM:Q82.8 {source="Orphanet:307936/attributed", source="Orphanet:307936/ntbt", source="Orphanet:307936"} xref: MESH:C564357 {source="MONDO:equivalentTo"} xref: OMIM:607658 {source="Orphanet:307936", source="MONDO:equivalentTo", source="Orphanet:307936/e"} @@ -235298,6 +240574,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0011885 name: tubulointerstitial nephritis and uveitis syndrome def: "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." [NCIT:P378] +subset: gard_rare {source="GARD:9252"} subset: ordo_disease {source="Orphanet:91500"} synonym: "acute Tubulointerstitial nephritis" RELATED [OMIM:607665] synonym: "acute tubulointerstitial nephritis and uveitis syndrome" EXACT [Orphanet:91500] @@ -235306,6 +240583,7 @@ synonym: "TINU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607665] synonym: "TINU syndrome" EXACT [Orphanet:91500] synonym: "Tubulointerstitial nephritis and uveitis" EXACT [NCIT:C123021] synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical, OMIM:607665] +xref: GARD:9252 {source="Orphanet:91500"} xref: ICD10CM:N10 {source="MONDO:relatedTo", source="Orphanet:91500", source="Orphanet:91500/ntbt"} xref: MedDRA:10069034 {source="Orphanet:91500", source="Orphanet:91500/e"} xref: MedDRA:10069039 {source="Orphanet:91500", source="Orphanet:91500/e"} @@ -235325,6 +240603,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0011886 name: torsion dystonia 13 def: "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." [Orphanet:98807] +subset: gard_rare {source="GARD:10537"} subset: ordo_disease {source="Orphanet:98807"} synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607671] synonym: "DYT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607671, Orphanet:98807] @@ -235333,6 +240612,7 @@ synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807] synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807] synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2] xref: DOID:0090037 {source="MONDO:equivalentTo"} +xref: GARD:10537 {source="Orphanet:98807"} xref: ICD10CM:G24.1 {source="Orphanet:98807/attributed", source="Orphanet:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"} xref: MESH:C564354 {source="MONDO:equivalentTo"} xref: OMIM:607671 {source="Orphanet:98807/e", source="MONDO:equivalentTo", source="DOID:0090037", source="Orphanet:98807"} @@ -235358,6 +240638,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011888 name: immunodeficiency 67 def: "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." [Orphanet:70592] +subset: gard_rare {source="GARD:10311"} subset: ordo_disease {source="Orphanet:70592"} synonym: "immunodeficiency 67" EXACT CLINGEN_PREFERRED [] synonym: "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" EXACT [Orphanet:70592] @@ -235369,6 +240650,7 @@ synonym: "IPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610799] synonym: "IRAK-4 deficiency" RELATED [GARD:0010311] synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592] synonym: "IRAK4D" RELATED ABBREVIATION [OMIM:607676] +xref: GARD:10311 {source="Orphanet:70592"} xref: ICD10CM:D84.8 {source="Orphanet:70592", source="Orphanet:70592/attributed", source="Orphanet:70592/ntbt"} xref: MESH:C563662 {source="MONDO:equivalentObsolete"} xref: MESH:C564352 {source="MONDO:equivalentTo"} @@ -235386,7 +240668,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011889 name: Charcot-Marie-Tooth disease type 2I def: "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." [Orphanet:99942] -subset: gard_rare {source="GARD:0009197"} +subset: gard_rare {source="GARD:9197"} subset: ordo_disease {source="Orphanet:99942"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [Orphanet:99942] synonym: "Charcot Marie Tooth disease type 2I" RELATED [GARD:0009197] @@ -235397,6 +240679,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [OMIM:607677] synonym: "CMT 2I" RELATED [GARD:0009197] synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942] xref: DOID:0110158 {source="MONDO:equivalentTo"} +xref: GARD:9197 {source="Orphanet:99942"} xref: ICD10CM:G60.0 {source="Orphanet:99942", source="Orphanet:99942/attributed", source="Orphanet:99942/ntbt", source="DOID:0110158"} xref: OMIM:607677 {source="Orphanet:99942", source="MONDO:equivalentTo", source="Orphanet:99942/e", source="DOID:0110158"} xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"} @@ -235416,7 +240699,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9197/charcot id: MONDO:0011890 name: Charcot-Marie-Tooth disease type 1D def: "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." [Orphanet:101084] -subset: gard_rare {source="GARD:0009189"} +subset: gard_rare {source="GARD:9189"} subset: ordo_disease {source="Orphanet:101084"} synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern] @@ -235432,6 +240715,7 @@ synonym: "HMSN 1D" RELATED [OMIM:607678] synonym: "HMSN ID" EXACT [DOID:0110150] synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678] xref: DOID:0110150 {source="MONDO:equivalentTo"} +xref: GARD:9189 {source="Orphanet:101084"} xref: ICD10CM:G60.0 {source="DOID:0110150", source="Orphanet:101084/attributed", source="Orphanet:101084/ntbt", source="Orphanet:101084"} xref: MESH:C537985 {source="Orphanet:101084/e", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: OMIM:607678 {source="Orphanet:101084/e", source="DOID:0110150", source="MONDO:equivalentTo", source="Orphanet:101084"} @@ -235451,6 +240735,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9189/charcot id: MONDO:0011891 name: febrile seizures, familial, 8 def: "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." [OMIM:607681] +subset: gard_rare {source="GARD:18058"} subset: predisposition synonym: "childhood absence epilepsy caused by mutation in GABRG2" EXACT [MONDO:design_pattern] synonym: "ECA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607681] @@ -235467,6 +240752,7 @@ synonym: "generalized epilepsy with febrile seizures plus caused by mutation in synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277] synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681] xref: DOID:0111298 {source="MONDO:equivalentTo"} +xref: GARD:18058 {source="OMIM:607681"} xref: MESH:C565811 {source="MONDO:equivalentTo"} xref: OMIM:607681 {source="MONDO:equivalentTo"} xref: OMIM:611277 {source="MONDO:equivalentObsolete"} @@ -235515,6 +240801,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011893 name: autosomal dominant nonsyndromic hearing loss 52 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." [DOID:0110578, PMID:18312703] +subset: gard_rare {source="GARD:18119"} synonym: "autosomal dominant deafness 52" NARROW [DOID:0110578] synonym: "autosomal dominant nonsyndromic deafness 52" NARROW [OMIM:607683] synonym: "autosomal dominant nonsyndromic deafness type 52" NARROW [DOID:0110578, MONDORULE:2] @@ -235522,6 +240809,7 @@ synonym: "deafness, autosomal dominant 42" NARROW [OMIM:607683] synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical, OMIM:607683, OMIM:genemap2] synonym: "DFNA52" NARROW ABBREVIATION [DOID:0110578, MONDO:Lexical, OMIM:607683] xref: DOID:0110578 {source="MONDO:equivalentTo"} +xref: GARD:18119 {source="OMIM:607683"} xref: ICD10CM:H90.3 {source="DOID:0110578"} xref: MESH:C564348 {source="MONDO:equivalentTo"} xref: OMIM:607683 {source="DOID:0110578", source="MONDO:equivalentTo"} @@ -235535,7 +240823,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011894 name: Charcot-Marie-Tooth disease type 2E def: "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." [Orphanet:99939] -subset: gard_rare {source="GARD:0009193"} +subset: gard_rare {source="GARD:9193"} subset: ordo_disease {source="Orphanet:99939"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165] synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193] @@ -235548,6 +240836,7 @@ synonym: "CMT 2E" RELATED [GARD:0009193] synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939] synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110165 {source="MONDO:equivalentTo"} +xref: GARD:9193 {source="Orphanet:99939"} xref: ICD10CM:G60.0 {source="DOID:0110165", source="Orphanet:99939", source="Orphanet:99939/attributed", source="Orphanet:99939/ntbt"} xref: MESH:C537994 {source="MONDO:equivalentTo"} xref: NCIT:C134953 {source="MONDO:equivalentTo"} @@ -235567,10 +240856,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9193/charcot [Term] id: MONDO:0011895 name: idiopathic hypereosinophilic syndrome +subset: gard_rare {source="GARD:16625"} subset: ordo_disease {source="Orphanet:3260"} synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2] +xref: GARD:16625 {source="Orphanet:3260"} xref: OMIM:607685 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="Orphanet:3260"} xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"} xref: SCTID:423294001 {source="MONDO:equivalentTo"} @@ -235586,6 +240877,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011896 name: Parkinson disease 11, autosomal dominant, susceptibility to def: "An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:18477"} subset: predisposition synonym: "GIGYF2 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in GIGYF2" EXACT [MONDO:design_pattern] @@ -235593,6 +240885,7 @@ synonym: "PARK11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607688] synonym: "Parkinson disease 11" EXACT [OMIM:607688, OMIM:genemap2] synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:607688] synonym: "susceptibility to autosomal dominant Parkinson disease 11" RELATED [OMIM:607688] +xref: GARD:18477 {source="OMIM:607688"} xref: MESH:C564345 {source="MONDO:equivalentTo"} xref: OMIM:607688 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:607688"} @@ -235612,6 +240905,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011897 name: leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome def: "A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:137639] +subset: gard_rare {source="GARD:16948", source="GARD:18087"} subset: ordo_disease {source="Orphanet:137639"} synonym: "4H syndrome" RELATED [OMIM:607694] synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [OMIM:607694] @@ -235630,6 +240924,8 @@ synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT synonym: "TACH syndrome" RELATED EXCLUDE [DOID:0060794] synonym: "tremor-ataxia-central hypomyelination syndrome" RELATED EXCLUDE [DOID:0060794] xref: DOID:0060794 {source="MONDO:equivalentTo"} +xref: GARD:16948 {source="Orphanet:137639"} +xref: GARD:18087 {source="OMIM:607694"} xref: ICD10CM:E75.2 {source="Orphanet:137639", source="Orphanet:137639/attributed", source="Orphanet:137639/ntbt"} xref: ICD10CM:G11.1 {source="DOID:0060794"} xref: OMIM:607694 {source="DOID:0060794", source="MONDO:equivalentTo", source="Orphanet:137639", source="Orphanet:137639/ntbt"} @@ -235662,6 +240958,7 @@ id: MONDO:0011899 name: Noonan syndrome-like disorder with loose anagen hair def: "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." [Orphanet:2701] subset: clingen +subset: gard_rare {source="GARD:10719"} subset: ordo_malformation_syndrome {source="Orphanet:2701"} subset: prototype_pattern synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:607721] @@ -235672,6 +240969,7 @@ synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607721] synonym: "NSLH1" RELATED ABBREVIATION [OMIM:607721] synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701] xref: DOID:0080691 {source="MONDO:equivalentTo"} +xref: GARD:10719 {source="Orphanet:2701"} xref: ICD10CM:Q87.1 {source="Orphanet:2701", source="Orphanet:2701/attributed", source="Orphanet:2701/ntbt"} xref: MESH:C564342 {source="MONDO:equivalentTo"} xref: NCIT:C178129 {source="MONDO:equivalentTo"} @@ -235692,10 +240990,12 @@ property_value: confidence "8.166666666666666" xsd:double [Term] id: MONDO:0011900 name: porokeratosis 4, disseminated superficial actinic type +subset: gard_rare {source="GARD:9504"} synonym: "POROK4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607728] synonym: "porokeratosis 4, disseminated superficial actinic" EXACT [OMIM:607728, OMIM:genemap2] synonym: "porokeratosis 4, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:607728] synonym: "porokeratosis, disseminated superficial actinic, 2" RELATED [OMIM:607728] +xref: GARD:9504 {source="OMIM:607728"} xref: OMIM:607728 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:607728"} xref: UMLS:C1843180 {source="MONDO:equivalentTo", source="OMIM:607728", source="MONDO:ncbi_mim2gene_medline"} @@ -235709,6 +241009,7 @@ id: MONDO:0011901 name: Charcot-Marie-Tooth disease axonal type 2H def: "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." [Orphanet:101102] comment: Not in the OMIM series. {source="OMIM:607731"} +subset: gard_rare {source="GARD:9196"} subset: ordo_disease {source="Orphanet:101102"} synonym: "AR-CMT2C" EXACT [DOID:0110166, Orphanet:101102] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [DOID:0110166] @@ -235723,6 +241024,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autos synonym: "CMT 2H" RELATED [GARD:0009196] synonym: "CMT2H" EXACT ABBREVIATION [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102] xref: DOID:0110166 {source="MONDO:equivalentTo"} +xref: GARD:9196 {source="Orphanet:101102"} xref: ICD10CM:G60.0 {source="Orphanet:101102", source="Orphanet:101102/attributed", source="Orphanet:101102/ntbt", source="DOID:0110166"} xref: MESH:C535415 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e"} xref: OMIM:607731 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e", source="DOID:0110166"} @@ -235737,7 +241039,7 @@ property_value: confidence "19.912698412698415" xsd:double id: MONDO:0011902 name: Charcot-Marie-Tooth disease type 1F def: "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." [Orphanet:101085] -subset: gard_rare {source="GARD:0009191"} +subset: gard_rare {source="GARD:9191"} subset: ordo_disease {source="Orphanet:101085"} synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern] @@ -235749,6 +241051,7 @@ synonym: "CMT 1F" RELATED [GARD:0009191] synonym: "CMT1F" EXACT ABBREVIATION [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085] synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110149 {source="MONDO:equivalentTo"} +xref: GARD:9191 {source="Orphanet:101085"} xref: ICD10CM:G60.0 {source="DOID:0110149", source="Orphanet:101085/attributed", source="Orphanet:101085/ntbt", source="Orphanet:101085"} xref: MESH:C537987 {source="MONDO:equivalentTo"} xref: OMIM:607734 {source="DOID:0110149", source="Orphanet:101085/e", source="MONDO:equivalentTo", source="Orphanet:101085"} @@ -235768,7 +241071,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9191/charcot id: MONDO:0011903 name: Charcot-Marie-Tooth disease type 2J def: "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." [Orphanet:99943] -subset: gard_rare {source="GARD:0009198"} +subset: gard_rare {source="GARD:9198"} subset: ordo_disease {source="Orphanet:99943"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [Orphanet:99943] synonym: "Charcot Marie Tooth disease type 2J" RELATED [GARD:0009198] @@ -235781,6 +241084,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [OMIM:607736] synonym: "CMT 2J" RELATED [GARD:0009198] synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943] xref: DOID:0110157 {source="MONDO:equivalentTo"} +xref: GARD:9198 {source="Orphanet:99943"} xref: ICD10CM:G60.0 {source="Orphanet:99943/attributed", source="Orphanet:99943/ntbt", source="Orphanet:99943", source="DOID:0110157"} xref: MESH:C535417 {source="MONDO:equivalentTo"} xref: OMIM:607736 {source="Orphanet:99943", source="MONDO:equivalentTo", source="Orphanet:99943/e", source="DOID:0110157"} @@ -235798,7 +241102,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9198/charcot id: MONDO:0011904 name: seizures, benign familial infantile, 3 def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:16521", source="GARD:1518"} subset: ordo_disease {source="Orphanet:140927"} synonym: "benign familial infantile convulsions" RELATED [GARD:0001518] synonym: "benign familial infantile epilepsy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] @@ -235814,6 +241118,8 @@ synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607 synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745] synonym: "seizures, benign familial neonatal-infantile" RELATED [OMIM:607745] xref: DOID:0081116 {source="MONDO:equivalentTo"} +xref: GARD:1518 {source="Orphanet:140927"} +xref: GARD:16521 {source="OMIM:607745"} xref: ICD10CM:G40.4 {source="Orphanet:140927", source="Orphanet:140927/attributed", source="Orphanet:140927/ntbt"} xref: MedDRA:10067866 {source="Orphanet:140927", source="Orphanet:140927/e"} xref: OMIM:607745 {source="Orphanet:140927", source="Orphanet:140927/ntbt", source="MONDO:equivalentTo", source="GARD:0001518"} @@ -235842,6 +241148,7 @@ replaced_by: MONDO:0031446 id: MONDO:0011906 name: congenital bile acid synthesis defect 1 def: "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." [Orphanet:79301] +subset: gard_rare {source="GARD:9813"} subset: ordo_disease {source="Orphanet:79301"} synonym: "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of" RELATED [GARD:0009813] synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [OMIM:607765] @@ -235856,6 +241163,7 @@ synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MON synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813] synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111071 {source="MONDO:equivalentTo"} +xref: GARD:9813 {source="Orphanet:79301"} xref: ICD10CM:K76.8 {source="DOID:0111071", source="Orphanet:79301/attributed", source="Orphanet:79301/ntbt", source="Orphanet:79301"} xref: MESH:C535442 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} xref: OMIM:607765 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} @@ -235871,11 +241179,12 @@ property_value: confidence "141.49999999999838" xsd:double id: MONDO:0011907 name: acrocapitofemoral dysplasia def: "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." [Orphanet:63446] -subset: gard_rare {source="GARD:0010605"} +subset: gard_rare {source="GARD:10605"} subset: ordo_malformation_syndrome {source="Orphanet:63446"} synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607778] synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778] xref: DOID:0050604 {source="MONDO:equivalentTo"} +xref: GARD:10605 {source="Orphanet:63446"} xref: ICD10CM:Q78.8 {source="Orphanet:63446/attributed", source="Orphanet:63446/ntbt", source="Orphanet:63446"} xref: MESH:C564334 {source="MONDO:equivalentTo"} xref: OMIM:607778 {source="Orphanet:63446", source="MONDO:equivalentTo", source="Orphanet:63446/e", source="DOID:0050604"} @@ -235893,6 +241202,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10605/acroca id: MONDO:0011908 name: juvenile myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" [NCIT:C9233] +subset: gard_rare {source="GARD:9884"} subset: ordo_disease {source="Orphanet:86834"} synonym: "chronic myelomonocytic leukaemia" BROAD OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" BROAD [NCIT:C9233] @@ -235912,6 +241222,7 @@ synonym: "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutatio synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [OMIM:607785, OMIM:genemap2] xref: DOID:0050458 {source="MONDO:equivalentTo"} xref: EFO:1000309 {source="MONDO:equivalentTo"} +xref: GARD:9884 {source="Orphanet:86834"} xref: ICD10CM:C93.3 {source="DOID:0050458", source="Orphanet:86834", source="Orphanet:86834/e"} xref: ICD10CM:C93.30 {source="DOID:0050458"} xref: ICDO:9946/3 {source="NCIT:C9233"} @@ -235939,6 +241250,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011909 name: Charcot-Marie-Tooth disease dominant intermediate D def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." [Orphanet:100046] +subset: gard_rare {source="GARD:9207"} subset: ordo_disease {source="Orphanet:100046"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200] synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207] @@ -235954,6 +241266,7 @@ synonym: "Di-Cmtd" RELATED [OMIM:607791] synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207] xref: DOID:0110200 {source="MONDO:equivalentTo"} +xref: GARD:9207 {source="Orphanet:100046"} xref: ICD10CM:G60.0 {source="Orphanet:100046", source="Orphanet:100046/attributed", source="Orphanet:100046/ntbt", source="DOID:0110200"} xref: MESH:C564333 {source="MONDO:equivalentTo"} xref: OMIM:607791 {source="Orphanet:100046", source="MONDO:equivalentTo", source="Orphanet:100046/e", source="DOID:0110200"} @@ -235987,12 +241300,14 @@ replaced_by: MONDO:0019947 id: MONDO:0011911 name: craniolenticulosutural dysplasia def: "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." [Orphanet:50814] +subset: gard_rare {source="GARD:16647"} subset: ordo_malformation_syndrome {source="Orphanet:50814"} synonym: "Boyadjiev-Jabs syndrome" EXACT [OMIM:607812, Orphanet:50814] synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607812] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307] synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812] xref: DOID:0070307 {source="MONDO:equivalentTo"} +xref: GARD:16647 {source="Orphanet:50814"} xref: ICD10CM:Q75.8 {source="Orphanet:50814/attributed", source="Orphanet:50814/ntbt", source="Orphanet:50814"} xref: MESH:C564332 {source="MONDO:equivalentTo"} xref: OMIM:607812 {source="Orphanet:50814/e", source="MONDO:equivalentTo", source="Orphanet:50814"} @@ -236009,6 +241324,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0011912 name: autosomal recessive nonsyndromic hearing loss 37 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22605"} synonym: "autosomal recessive deafness 37" NARROW [DOID:0110495] synonym: "autosomal recessive nonsyndromic deafness 37" NARROW CLINGEN_PREFERRED [OMIM:607821] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] @@ -236018,6 +241334,7 @@ synonym: "deafness, autosomal recessive type 37" NARROW [MONDORULE:2, OMIM:60782 synonym: "DFNB37" NARROW ABBREVIATION [DOID:0110495, MONDO:Lexical, OMIM:607821] synonym: "MYO6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110495 {source="MONDO:equivalentTo"} +xref: GARD:22605 {source="OMIM:607821"} xref: ICD10CM:H90.3 {source="DOID:0110495"} xref: MESH:C564331 {source="MONDO:equivalentTo"} xref: OMIM:607821 {source="MONDO:equivalentTo", source="DOID:0110495"} @@ -236034,6 +241351,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011913 name: Alzheimer disease 3 def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." [NCIT:C123412] +subset: gard_rare {source="GARD:16513"} synonym: "AD" RELATED ABBREVIATION [OMIM:607822] synonym: "AD3" EXACT ABBREVIATION [DOID:0110042, OMIM:607822] synonym: "Alzheimer disease 3" EXACT [DOID:0110042, OMIM:607822] @@ -236056,6 +241374,7 @@ synonym: "familial Alzheimer disease, type 3" EXACT [NCIT:C123412] synonym: "familial Alzheimer's disease, type 3" EXACT [NCIT:C123412] synonym: "PSEN1 early-onset autosomal dominant Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110042 {source="MONDO:equivalentTo"} +xref: GARD:16513 {source="OMIM:607822"} xref: MESH:C536598 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C123412 {source="MONDO:equivalentTo"} xref: OMIM:607822 {source="MONDO:equivalentTo", source="DOID:0110042"} @@ -236074,9 +241393,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011914 name: hypotrichosis-lymphedema-telangiectasia syndrome +subset: gard_rare {source="GARD:15420"} synonym: "HLTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607823] synonym: "hypotrichosis-lymphedema-telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:607823] xref: DOID:0111361 {source="MONDO:equivalentTo"} +xref: GARD:15420 {source="OMIM:607823"} xref: MESH:C564327 {source="MONDO:equivalentTo"} xref: OMIM:607823 {source="MONDO:equivalentTo"} xref: Orphanet:69735 {source="OMIM:607823"} @@ -236087,11 +241408,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011915 name: mitral valve prolapse, myxomatous 2 +subset: gard_rare {source="GARD:15421"} synonym: "mitral valve prolapse 2" RELATED [OMIM:607829] synonym: "mitral valve prolapse, myxomatous 2" EXACT [MONDO:Lexical, OMIM:607829] synonym: "MMVP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607829] synonym: "MVP2" RELATED ABBREVIATION [OMIM:607829] synonym: "myxomatous mitral valve prolapse 2" RELATED [OMIM:607829] +xref: GARD:15421 {source="OMIM:607829"} xref: MESH:C564326 {source="MONDO:equivalentTo"} xref: OMIM:607829 {source="MONDO:equivalentTo"} xref: UMLS:C1843003 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607829"} @@ -236103,6 +241426,7 @@ property_value: confidence "2.471428571428572" xsd:double id: MONDO:0011916 name: Charcot-Marie-Tooth disease axonal type 2K def: "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:101097] +subset: gard_rare {source="GARD:12448"} subset: ordo_disease {source="Orphanet:101097"} synonym: "ARCMT2K" EXACT ABBREVIATION [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [DOID:0110167] @@ -236117,6 +241441,7 @@ synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831] synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607831] xref: DOID:0110167 {source="MONDO:equivalentTo"} +xref: GARD:12448 {source="Orphanet:101097"} xref: ICD10CM:G60.0 {source="Orphanet:101097/attributed", source="Orphanet:101097/ntbt", source="DOID:0110167", source="Orphanet:101097"} xref: OMIM:607831 {source="MONDO:equivalentTo", source="Orphanet:101097/btnt", source="DOID:0110167", source="Orphanet:101097"} xref: Orphanet:101097 {source="OMIM:607831", source="MONDO:equivalentTo", source="DOID:0110167"} @@ -236133,6 +241458,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011917 name: focal segmental glomerulosclerosis 3, susceptibility to def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15422"} subset: predisposition synonym: "CD2AP focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:607832] @@ -236142,6 +241468,7 @@ synonym: "glomerulosclerosis, focal segmental, 3" EXACT [OMIM:607832, OMIM:genem synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [OMIM:607832] synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [OMIM:607832] xref: DOID:0112245 {source="MONDO:equivalentTo"} +xref: GARD:15422 {source="OMIM:607832"} xref: OMIM:607832 {source="MONDO:equivalentTo"} xref: UMLS:C1842982 {source="OMIM:607832", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -236193,6 +241520,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011920 name: autosomal dominant nonsyndromic hearing loss 48 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18120"} synonym: "autosomal dominant deafness 48" NARROW [DOID:0110571] synonym: "autosomal dominant nonsyndromic deafness 48" NARROW [OMIM:607841] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" NARROW [MONDO:design_pattern] @@ -236202,6 +241530,7 @@ synonym: "deafness, autosomal dominant type 48" NARROW [MONDORULE:2, OMIM:607841 synonym: "DFNA48" NARROW ABBREVIATION [DOID:0110571, MONDO:Lexical, OMIM:607841] synonym: "MYO1A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110571 {source="MONDO:equivalentTo"} +xref: GARD:18120 {source="OMIM:607841"} xref: ICD10CM:H90.3 {source="DOID:0110571"} xref: MESH:C564322 {source="MONDO:equivalentTo"} xref: OMIM:607841 {source="MONDO:equivalentTo", source="DOID:0110571"} @@ -236216,9 +241545,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011921 name: aural atresia, congenital +subset: gard_rare {source="GARD:18275"} synonym: "aural atresia, congenital" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:607842] synonym: "aural atresia, congenital, with hyposmia" RELATED [OMIM:607842] synonym: "CAA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607842] +xref: GARD:18275 {source="OMIM:607842"} xref: MESH:C564321 {source="MONDO:equivalentTo"} xref: OMIM:607842 {source="MONDO:equivalentTo"} xref: Orphanet:141074 {source="OMIM:607842"} @@ -236232,11 +241563,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011922 name: nonimmune chronic idiopathic neutropenia of adults +subset: gard_rare {source="GARD:16605"} subset: ordo_disease {source="Orphanet:2688"} synonym: "adult idiopathic neutropenia" EXACT [Orphanet:2688] synonym: "neutropenia, nonimmune chronic idiopathic, of adults" EXACT [OMIM:607847] synonym: "NI-CINA" EXACT [OMIM:607847] synonym: "nonimmune chronic idiopathic neutropenia of adults" EXACT [OMIM:607847] +xref: GARD:16605 {source="Orphanet:2688"} xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:2688", source="Orphanet:2688/ntbt"} xref: MESH:C564320 {source="MONDO:equivalentTo"} xref: OMIM:607847 {source="MONDO:equivalentTo", source="Orphanet:2688", source="Orphanet:2688/e"} @@ -236283,6 +241616,7 @@ is_a: MONDO:0031240 {source="DC-OMIM:607853", source="OMIM:607853"} ! familial p id: MONDO:0011925 name: congenital merosin-deficient muscular dystrophy 1A def: "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." [Orphanet:258] +subset: gard_rare {source="GARD:3843"} subset: ordo_malformation_syndrome {source="Orphanet:258"} synonym: "CMD1A" EXACT ABBREVIATION [DOID:0110636, Orphanet:258] synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4] @@ -236304,6 +241638,7 @@ synonym: "muscular dystrophy, congenital, merosin deficient or partially deficie synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:0003843] xref: DOID:0110636 {source="MONDO:equivalentTo"} xref: EFO:0009138 {source="MONDO:equivalentTo"} +xref: GARD:3843 {source="Orphanet:258"} xref: ICD10CM:G71.2 {source="Orphanet:258", source="DOID:0110636", source="Orphanet:258/attributed", source="Orphanet:258/ntbt"} xref: NCIT:C118783 {source="MONDO:equivalentTo"} xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="Orphanet:258/e"} @@ -236341,6 +241676,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011927 name: tufted angioma def: "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." [Orphanet:1063] +subset: gard_rare {source="GARD:425"} subset: ordo_disease {source="Orphanet:1063"} synonym: "angioblastoma of Nakagawa" EXACT [NCIT:C4487] synonym: "angioma tufted" RELATED [GARD:0000425] @@ -236354,6 +241690,7 @@ synonym: "tufted hemangioma" EXACT [NCIT:C4487] synonym: "tufted hemangioma of skin" EXACT [NCIT:C4487] synonym: "tufted hemangioma of the skin" EXACT [NCIT:C4487] synonym: "tufted skin angioma" EXACT [NCIT:C4487] +xref: GARD:425 {source="Orphanet:1063"} xref: HP:0012329 {source="MONDO:otherHierarchy"} xref: ICD10CM:D18.0 {source="Orphanet:1063/attributed", source="Orphanet:1063/ntbt", source="Orphanet:1063"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -236374,11 +241711,12 @@ property_value: IAO:0000589 "tufted angioma (disease)" xsd:string id: MONDO:0011928 name: caudal duplication def: "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." [Orphanet:1756] -subset: gard_rare {source="GARD:0001164"} +subset: gard_rare {source="GARD:1164"} subset: ordo_malformation_syndrome {source="Orphanet:1756"} synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864] synonym: "dipygus" EXACT [Orphanet:1756] synonym: "split notochord syndrome" EXACT [Orphanet:1756] +xref: GARD:1164 {source="Orphanet:1756"} xref: ICD10CM:Q87.8 {source="Orphanet:1756", source="Orphanet:1756/attributed", source="Orphanet:1756/ntbt"} xref: MESH:C564315 {source="MONDO:equivalentTo"} xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="Orphanet:1756/e"} @@ -236399,7 +241737,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1164/caudal- id: MONDO:0011929 name: chromosome 1p36 deletion syndrome def: "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." [Orphanet:1606] -subset: gard_rare {source="GARD:0006082"} +subset: gard_rare {source="GARD:6082"} subset: ordo_malformation_syndrome {source="Orphanet:1606"} synonym: "1p telomere deletion syndrome" EXACT [NCIT:C74983] synonym: "1p36 deletion syndrome" EXACT [DOID:0060410] @@ -236415,6 +241753,7 @@ synonym: "monosomy 1pter" EXACT [Orphanet:1606] synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606] xref: DECIPHER:18 {source="MONDO:equivalentTo"} xref: DOID:0060410 {source="MONDO:equivalentTo"} +xref: GARD:6082 {source="Orphanet:1606"} xref: ICD10CM:Q93.5 {source="Orphanet:1606/attributed", source="Orphanet:1606/ntbt", source="Orphanet:1606"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535362 {source="DOID:0060410", source="MONDO:equivalentTo"} @@ -236442,6 +241781,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6082/chromos id: MONDO:0011930 name: epilepsy, familial adult myoclonic, 2 def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18083"} synonym: "ADRA2B epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "benign adult familial myoclonic epilepsy 2" RELATED [OMIM:607876] synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [OMIM:607876] @@ -236452,6 +241792,7 @@ synonym: "epilepsy, familial adult myoclonic, 2" EXACT [MONDO:Lexical, OMIM:6078 synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1, OMIM:607876] synonym: "FAME2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607876] xref: DOID:0111692 {source="MONDO:equivalentTo"} +xref: GARD:18083 {source="OMIM:607876"} xref: MESH:C564313 {source="MONDO:equivalentTo"} xref: OMIM:607876 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:607876"} @@ -236482,6 +241823,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011932 name: hypotrichosis 6 def: "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15423"} synonym: "autosomal recessive localised hypotrichosis" EXACT OMO:0003005 [] synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703] synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -236495,6 +241837,7 @@ synonym: "HYPT6" EXACT ABBREVIATION [DOID:0110703, MONDO:Lexical, OMIM:607903] synonym: "Lah1" EXACT [DOID:0110703] synonym: "monilethrix-like hypotrichosis" EXACT [DOID:0110703, OMIM:607903] xref: DOID:0110703 {source="MONDO:equivalentTo"} +xref: GARD:15423 {source="OMIM:607903"} xref: MESH:C564312 {source="MONDO:equivalentTo"} xref: OMIM:607903 {source="DOID:0110703", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:607903"} @@ -236510,6 +241853,7 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0011933 name: ALG2-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." [Orphanet:79326] +subset: gard_rare {source="GARD:9836"} subset: ordo_disease {source="Orphanet:79326"} synonym: "ALG2-CDG" EXACT ABBREVIATION [Orphanet:79326] synonym: "ALG2-CDG (CDG-II)" RELATED [GARD:0009836] @@ -236525,6 +241869,7 @@ synonym: "congenital disorder of glycosylation type Ii" EXACT [Orphanet:79326] synonym: "congenital disorder of glycosylation, type Ii" EXACT [MONDO:Lexical, OMIM:607906] synonym: "mannosyltransferase 2 deficiency" EXACT [Orphanet:79326] xref: DOID:0080561 {source="MONDO:equivalentTo"} +xref: GARD:9836 {source="Orphanet:79326"} xref: ICD10CM:E77.8 {source="Orphanet:79326", source="Orphanet:79326/attributed", source="Orphanet:79326/ntbt"} xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="Orphanet:79326/e"} xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"} @@ -236542,7 +241887,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0011934 name: dermatofibrosarcoma protuberans def: "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." [Orphanet:31112] -subset: gard_rare {source="GARD:0009569"} +subset: gard_rare {source="GARD:9569"} subset: ordo_disease {source="Orphanet:31112"} synonym: "dermatofibrosarcoma" EXACT [NCIT:C4683] synonym: "dermatofibrosarcoma protuberans" EXACT [MONDO:Lexical, OMIM:607907] @@ -236551,6 +241896,7 @@ synonym: "familial dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009 synonym: "giant cell fibroblastoma" RELATED [OMIM:607907] synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] xref: DOID:3507 {source="MONDO:equivalentTo"} +xref: GARD:9569 {source="Orphanet:31112"} xref: ICD10CM:C49.9 {source="Orphanet:31112", source="Orphanet:31112/attributed", source="Orphanet:31112/ntbt"} xref: ICDO:8832/3 {source="NCIT:C4683"} xref: MedDRA:10057070 {source="Orphanet:31112", source="Orphanet:31112/e"} @@ -236578,6 +241924,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9569/dermato id: MONDO:0011935 name: retinitis pigmentosa 30 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10401"} synonym: "FSCN2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular Degeneration" RELATED [OMIM:607921] synonym: "retinitis pigmentosa 30" EXACT [MONDO:Lexical, OMIM:607921] @@ -236586,6 +241933,7 @@ synonym: "retinitis pigmentosa type 30" EXACT [DOID:0110406, MONDORULE:2, OMIM:6 synonym: "RP 30" RELATED [GARD:0010401] synonym: "RP30" EXACT ABBREVIATION [DOID:0110406, MONDO:Lexical, OMIM:607921] xref: DOID:0110406 {source="MONDO:equivalentTo"} +xref: GARD:10401 {source="OMIM:607921"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110406"} xref: OMIM:607921 {source="DOID:0110406", source="MONDO:equivalentTo"} xref: UMLS:C1842816 {source="OMIM:607921", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -236598,6 +241946,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011936 name: microphthalmia with brain and digit anomalies def: "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." [Orphanet:139471] +subset: gard_rare {source="GARD:3645"} subset: ordo_malformation_syndrome {source="Orphanet:139471"} synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" RELATED [GARD:0003645] synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [OMIM:607932] @@ -236611,6 +241960,7 @@ synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932] synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932] synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471] xref: DOID:0111805 {source="MONDO:equivalentTo"} +xref: GARD:3645 {source="Orphanet:139471"} xref: ICD10CM:Q11.2 {source="Orphanet:139471", source="Orphanet:139471/attributed", source="Orphanet:139471/ntbt"} xref: MESH:C566440 {source="MONDO:equivalentTo"} xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="Orphanet:139471/e"} @@ -236626,6 +241976,7 @@ property_value: confidence "25.875" xsd:double id: MONDO:0011937 name: peeling skin syndrome 4 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18426"} synonym: "CSTA peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ichthyosis bullosa of Siemens-like" RELATED [OMIM:607936] synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [OMIM:607936] @@ -236633,6 +241984,7 @@ synonym: "peeling skin syndrome 4" EXACT [MONDO:Lexical, OMIM:607936] synonym: "peeling skin syndrome caused by mutation in CSTA" EXACT [MONDO:design_pattern] synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1, OMIM:607936] synonym: "PSS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607936] +xref: GARD:18426 {source="OMIM:607936"} xref: MESH:C564309 {source="MONDO:equivalentTo"} xref: OMIM:607936 {source="MONDO:equivalentTo"} xref: Orphanet:289586 {source="OMIM:607936"} @@ -236670,7 +242022,7 @@ property_value: confidence "4.000000000000001" xsd:double [Term] id: MONDO:0011939 name: Spondyloenchondrodysplasia with immune dysregulation -subset: gard_rare {source="GARD:0004978"} +subset: gard_rare {source="GARD:4978"} subset: ordo_malformation_syndrome {source="Orphanet:1855"} synonym: "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" EXACT [OMIM:607944] synonym: "Roifman Immunoskeletal syndrome" EXACT [OMIM:607944] @@ -236684,6 +242036,7 @@ synonym: "spondyloenchondromatosis" EXACT [OMIM:271550, Orphanet:1855] synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [Orphanet:50816] synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855] xref: EFO:0002326 {source="MONDO:equivalentTo"} +xref: GARD:4978 {source="Orphanet:1855"} xref: ICD10CM:Q77.7 {source="Orphanet:1855", source="Orphanet:1855/attributed", source="Orphanet:1855/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -236711,7 +242064,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4978/spondyl id: MONDO:0011940 name: mycobacterium tuberculosis, susceptibility to comment: Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO_0000070 mycobacterium tuberculosis, susceptibility' -subset: gard_rare +subset: gard_rare {source="GARD:2456"} subset: obsoletion_candidate subset: predisposition synonym: "Mycobacterium tuberculosis, protection against" RELATED [OMIM:607948] @@ -236720,6 +242073,7 @@ synonym: "Mycobacterium tuberculosis, susceptibility to infection by" RELATED [G synonym: "tuberculosis infection, protection against" EXACT [OMIM:607948, OMIM:genemap2] synonym: "tuberculosis, protection against" EXACT [OMIM:607948, OMIM:genemap2] synonym: "tuberculosis, susceptibility to" BROAD [OMIM:607948, OMIM:genemap2] +xref: GARD:2456 {source="OMIM:607948"} xref: MESH:C536092 {source="MONDO:equivalentTo"} xref: OMIM:607948 {source="GARD:0002456", source="MONDO:equivalentTo"} xref: Orphanet:3389 {source="OMIM:607948"} @@ -236786,7 +242140,7 @@ id: MONDO:0011945 name: Gaucher disease perinatal lethal def: "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." [Orphanet:85212] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163|https://orcid.org/0000-0003-4830-7530) -subset: gard_rare +subset: gard_rare {source="GARD:10675"} subset: ordo_clinical_subtype {source="Orphanet:85212"} synonym: "fetal Gaucher disease" EXACT [DOID:0110960] synonym: "foetal Gaucher disease" EXACT OMO:0003005 [] @@ -236798,6 +242152,7 @@ synonym: "Gaucher disease, perinatal-lethal form" EXACT [GARD:0010675] synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212] xref: DOID:0110960 {source="MONDO:equivalentTo"} +xref: GARD:10675 {source="Orphanet:85212"} xref: ICD10CM:E75.2 {source="Orphanet:85212/attributed", source="Orphanet:85212/ntbt", source="Orphanet:85212", source="DOID:0110960"} xref: MESH:C564306 {source="MONDO:equivalentTo"} xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="Orphanet:85212/e", source="DOID:0110960"} @@ -236814,9 +242169,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10675/gauche id: MONDO:0011946 name: diaphanospondylodysostosis def: "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." [Orphanet:66637] +subset: gard_rare {source="GARD:16674"} subset: ordo_malformation_syndrome {source="Orphanet:66637"} synonym: "diaphanospondylodysostosis" EXACT CLINGEN_PREFERRED [OMIM:608022] synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022] +xref: GARD:16674 {source="Orphanet:66637"} xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="Orphanet:66637/attributed", source="Orphanet:66637/ntbt"} xref: MESH:C564305 {source="MONDO:equivalentTo"} xref: OMIM:608022 {source="MONDO:equivalentTo", source="Orphanet:66637", source="Orphanet:66637/e"} @@ -236840,7 +242197,7 @@ replaced_by: MONDO:0024633 id: MONDO:0011948 name: pontocerebellar hypoplasia type 3 def: "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." [Orphanet:97249] -subset: gard_rare {source="GARD:0010708"} +subset: gard_rare {source="GARD:10708"} subset: ordo_malformation_syndrome {source="Orphanet:97249"} synonym: "cerebellar atrophy with progressive microcephaly" EXACT [OMIM:608027, Orphanet:97249] synonym: "clam" EXACT [Orphanet:97249] @@ -236852,6 +242209,7 @@ synonym: "PCH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608027, Orphanet:97249] synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027] xref: DOID:0060272 {source="MONDO:equivalentTo"} +xref: GARD:10708 {source="Orphanet:97249"} xref: ICD10CM:Q04.3 {source="Orphanet:97249/attributed", source="Orphanet:97249/ntbt", source="Orphanet:97249"} xref: MESH:C548072 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: OMIM:608027 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} @@ -236868,7 +242226,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10708/pontoc [Term] id: MONDO:0011949 name: Thai symphalangism syndrome -subset: gard_rare {source="GARD:0003557"} synonym: "Thai symphalangism syndrome" EXACT [OMIM:608028] xref: MESH:C564303 {source="MONDO:equivalentTo"} xref: OMIM:608028 {source="MONDO:equivalentTo"} @@ -236879,6 +242236,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3557/thai-sy [Term] id: MONDO:0011950 name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia +subset: gard_rare {source="GARD:4954"} subset: ordo_disease {source="Orphanet:284332"} synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [Orphanet:284332] synonym: "cerebellar ataxia infantile nonprogressive autosomal recessive" RELATED [GARD:0004954] @@ -236888,6 +242246,7 @@ synonym: "SCAR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608029, Orphanet:284332 synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954] synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029] xref: DOID:0111617 {source="MONDO:equivalentTo"} +xref: GARD:4954 {source="Orphanet:284332"} xref: ICD10CM:G11.0 {source="Orphanet:284332", source="Orphanet:284332/attributed", source="Orphanet:284332/ntbt"} xref: MESH:C537312 {source="MONDO:equivalentTo"} xref: OMIM:608029 {source="MONDO:equivalentTo", source="Orphanet:284332", source="Orphanet:284332/e"} @@ -236901,7 +242260,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011951 name: amyotrophic lateral sclerosis type 6 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009874"} +subset: gard_rare {source="GARD:9874"} synonym: "ALS6" EXACT ABBREVIATION [DOID:0060198, MONDO:Lexical, OMIM:608030] synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:608030] synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198, OMIM:608030] @@ -236909,6 +242268,7 @@ synonym: "amyotrophic lateral sclerosis caused by mutation in FUS" EXACT [MONDO: synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198, OMIM:608030] synonym: "FUS amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060198 {source="MONDO:equivalentTo"} +xref: GARD:9874 {source="OMIM:608030"} xref: MESH:C567699 {source="MONDO:equivalentTo"} xref: OMIM:608030 {source="DOID:0060198", source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="OMIM:608030"} @@ -236926,10 +242286,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9874/amyotro [Term] id: MONDO:0011952 name: amyotrophic lateral sclerosis type 7 -subset: gard_rare {source="GARD:0010500"} +subset: gard_rare {source="GARD:10500"} synonym: "ALS7" EXACT ABBREVIATION [DOID:0060199, MONDO:Lexical, OMIM:608031] synonym: "amyotrophic lateral sclerosis 7" EXACT [DOID:0060199, MONDO:Lexical, OMIM:608031] xref: DOID:0060199 {source="MONDO:equivalentTo"} +xref: GARD:10500 {source="OMIM:608031"} xref: MESH:C564300 {source="MONDO:equivalentTo"} xref: OMIM:608031 {source="DOID:0060199", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:608031"} @@ -236941,6 +242302,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10500/amyotr id: MONDO:0011953 name: familial acute necrotizing encephalopathy def: "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen." [Orphanet:88619] +subset: gard_rare {source="GARD:13232"} subset: ordo_disease {source="Orphanet:88619"} subset: predisposition synonym: "acute necrotizing encephalopathy type 1" RELATED [GARD:0013232] @@ -236958,6 +242320,7 @@ synonym: "recurrent acute necrotizing encephalopathy" EXACT [Orphanet:88619] synonym: "susceptibility to acute infection-induced encephalopathy-3" RELATED [GARD:0013232] synonym: "susceptibility to acute necrotizing encephalopathy" RELATED [GARD:0013232] synonym: "susceptibility to infection-induced acute encephalopathy 3" RELATED [GARD:0013232] +xref: GARD:13232 {source="Orphanet:88619"} xref: OMIM:608033 {source="Orphanet:88619/e", source="MONDO:equivalentTo", source="Orphanet:88619"} xref: Orphanet:88619 {source="MONDO:equivalentTo", source="OMIM:608033"} xref: SCTID:723359002 {source="MONDO:equivalentTo"} @@ -236976,10 +242339,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011954 name: melanoma, cutaneous malignant, susceptibility to, 4 +subset: gard_rare {source="GARD:18577"} subset: predisposition synonym: "CMM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608035] synonym: "melanoma, cutaneous malignant, 4" EXACT [OMIM:608035, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:608035] +xref: GARD:18577 {source="OMIM:608035"} xref: OMIM:608035 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:608035"} xref: UMLS:C1842643 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608035"} @@ -237022,10 +242387,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011957 name: retinal macular dystrophy type 2 def: "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." [Orphanet:319640] +subset: gard_rare {source="GARD:17467"} subset: ordo_disease {source="Orphanet:319640"} synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051] synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051] synonym: "MCDR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608051, Orphanet:319640] +xref: GARD:17467 {source="Orphanet:319640"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:319640", source="Orphanet:319640/attributed", source="Orphanet:319640/ntbt"} xref: MESH:C562746 {source="MONDO:equivalentTo"} xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="Orphanet:319640/e"} @@ -237048,6 +242415,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011959 name: sweet syndrome def: "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." [Orphanet:3243] +subset: gard_rare {source="GARD:521"} subset: ordo_disease {source="Orphanet:3243"} synonym: "acute febrile neutrophilic dermatosis" EXACT [Orphanet:3243] synonym: "Afnd" RELATED [OMIM:608068] @@ -237056,6 +242424,7 @@ synonym: "Gomm-button disease" RELATED [OMIM:608068] synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068] synonym: "sweet syndrome" EXACT [OMIM:608068] xref: DOID:0080746 {source="MONDO:equivalentTo"} +xref: GARD:521 {source="Orphanet:3243"} xref: ICD10CM:L98.2 {source="Orphanet:3243", source="Orphanet:3243/e"} xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000748 {source="Orphanet:3243", source="Orphanet:3243/e"} @@ -237090,6 +242459,7 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0011961 name: hereditary sensory and autonomic neuropathy type 1B def: "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." [Orphanet:139564] +subset: gard_rare {source="GARD:16958"} subset: ordo_disease {source="Orphanet:139564"} synonym: "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" EXACT [Orphanet:139564] synonym: "hereditary sensory and autonomic neuropathy type IB" EXACT [Orphanet:139564] @@ -237102,6 +242472,7 @@ synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and g synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088] synonym: "neuropathy, hereditary sensory, type IB" EXACT [OMIM:608088, OMIM:genemap2] xref: DOID:0070148 {source="MONDO:equivalentTo"} +xref: GARD:16958 {source="Orphanet:139564"} xref: ICD10CM:G60.8 {source="Orphanet:139564/attributed", source="Orphanet:139564/ntbt", source="Orphanet:139564"} xref: MESH:C564296 {source="MONDO:equivalentTo"} xref: OMIM:608088 {source="Orphanet:139564/e", source="DOID:0070148", source="MONDO:equivalentTo", source="Orphanet:139564"} @@ -237156,7 +242527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011963 name: Joubert syndrome 2 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010167"} +subset: gard_rare {source="GARD:10167"} synonym: "Cerebellooculorenal syndrome 2" RELATED [OMIM:608091] synonym: "cerebellooculorenal syndrome 2" EXACT [DOID:0110988] synonym: "CORS2" EXACT ABBREVIATION [DOID:0110988] @@ -237166,6 +242537,7 @@ synonym: "Joubert syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pa synonym: "Joubert syndrome type 2" EXACT [DOID:0110988, MONDORULE:1, OMIM:608091] synonym: "TMEM216 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110988 {source="MONDO:equivalentTo"} +xref: GARD:10167 {source="OMIM:608091"} xref: MESH:C536294 {source="MONDO:equivalentTo"} xref: OMIM:608091 {source="DOID:0110988", source="MONDO:equivalentTo"} xref: Orphanet:2318 {source="OMIM:608091"} @@ -237182,6 +242554,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10167/jouber id: MONDO:0011964 name: DPAGT1-congenital disorder of glycosylation def: "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." [Orphanet:86309] +subset: gard_rare {source="GARD:9837"} subset: ordo_disease {source="Orphanet:86309"} synonym: "carbohydrate deficient glycoprotein syndrome type Ij" EXACT [Orphanet:86309] synonym: "CDG 1J" RELATED [GARD:0009837] @@ -237198,6 +242571,7 @@ synonym: "DPAGT1-CDG" EXACT ABBREVIATION [Orphanet:86309] synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837] synonym: "DPAGT1-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080562 {source="MONDO:equivalentTo"} +xref: GARD:9837 {source="Orphanet:86309"} xref: ICD10CM:E77.8 {source="Orphanet:86309/attributed", source="Orphanet:86309/ntbt", source="Orphanet:86309"} xref: MESH:C535748 {source="MONDO:equivalentTo"} xref: NCIT:C126874 {source="MONDO:equivalentTo"} @@ -237217,6 +242591,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0011965 name: familial temporal lobe epilepsy 2 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." [DOID:0060755, PMID:12011300, PMID:15342703] +subset: gard_rare {source="GARD:5135"} subset: ordo_disease {source="Orphanet:98819"} synonym: "epilepsy, familial temporal lobe" RELATED [GARD:0005135] synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical, OMIM:608096] @@ -237226,6 +242601,7 @@ synonym: "familial temporal lobe epilepsy type 2" EXACT [DOID:0060755, MONDORULE synonym: "Ftle" RELATED [OMIM:608096] synonym: "temporal epilepsy, familial" RELATED [GARD:0005135] xref: DOID:0060755 {source="MONDO:equivalentTo"} +xref: GARD:5135 {source="Orphanet:98819"} xref: ICD10CM:G40.2 {source="Orphanet:98819/attributed", source="Orphanet:98819/ntbt", source="Orphanet:98819"} xref: MESH:C536956 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="Orphanet:98819"} xref: OMIM:608096 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="DOID:0060755", source="Orphanet:98819"} @@ -237238,10 +242614,12 @@ property_value: confidence "1.4868421052631575" xsd:double [Term] id: MONDO:0011966 name: periventricular heterotopia with microcephaly, autosomal recessive +subset: gard_rare {source="GARD:15424"} synonym: "ARPHM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608097] synonym: "heterotopia, periventricular, autosomal recessive" RELATED [OMIM:608097] synonym: "periventricular heterotopia with microcephaly, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608097] synonym: "periventricular nodular heterotopia 2" RELATED [OMIM:608097] +xref: GARD:15424 {source="OMIM:608097"} xref: MESH:C564292 {source="MONDO:equivalentTo"} xref: OMIM:608097 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:608097"} @@ -237254,8 +242632,10 @@ property_value: confidence "5.0" xsd:double [Term] id: MONDO:0011967 name: heterotopia, periventricular, associated with chromosome 5P anomalies +subset: gard_rare {source="GARD:15425"} synonym: "heterotopia, periventricular, associated with chromosome 5P anomalies" EXACT [OMIM:608098] synonym: "periventricular nodular heterotopia 3" RELATED [OMIM:608098] +xref: GARD:15425 {source="OMIM:608098"} xref: MESH:C564291 {source="MONDO:equivalentTo"} xref: OMIM:608098 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:608098"} @@ -237268,6 +242648,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0011968 name: autosomal recessive limb-girdle muscular dystrophy type 2D def: "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." [Orphanet:62] +subset: gard_rare {source="GARD:438"} subset: ordo_disease {source="Orphanet:62"} synonym: "Adhalinopathy, primary" RELATED [OMIM:608099] synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62] @@ -237285,6 +242666,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:L synonym: "primary adhalinopathy" EXACT [DOID:0110278] synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110278 {source="MONDO:equivalentTo"} +xref: GARD:438 {source="Orphanet:62"} xref: ICD10CM:G71.0 {source="Orphanet:62/ntbt", source="Orphanet:62/inclusion", source="DOID:0110278", source="Orphanet:62"} xref: NCIT:C142081 {source="MONDO:equivalentTo"} xref: OMIM:608099 {source="Orphanet:62/e", source="MONDO:equivalentTo", source="DOID:0110278", source="Orphanet:62"} @@ -237307,6 +242689,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011969 name: ALG8-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." [Orphanet:79325] +subset: gard_rare {source="GARD:9834"} subset: ordo_disease {source="Orphanet:79325"} synonym: "ALG8-CDG" EXACT ABBREVIATION [Orphanet:79325] synonym: "ALG8-CDG (CDG-Ih)" RELATED [GARD:0009834] @@ -237322,6 +242705,7 @@ synonym: "congenital disorder of glycosylation type Ih" EXACT [Orphanet:79325] synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, OMIM:608104] synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325] xref: DOID:0080560 {source="MONDO:equivalentTo"} +xref: GARD:9834 {source="Orphanet:79325"} xref: ICD10CM:E77.8 {source="Orphanet:79325", source="Orphanet:79325/attributed", source="Orphanet:79325/ntbt"} xref: MESH:C535746 {source="MONDO:equivalentTo"} xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="Orphanet:79325/e"} @@ -237342,12 +242726,14 @@ property_value: confidence "12.055555555555557" xsd:double [Term] id: MONDO:0011970 name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +subset: gard_rare {source="GARD:17003"} subset: ordo_disease {source="Orphanet:163727"} synonym: "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" EXACT [OMIM:608105, OMIM:genemap2] synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical, OMIM:608105] synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105] synonym: "Re-ped-Wc" RELATED [OMIM:608105] xref: DOID:0111645 {source="MONDO:equivalentTo"} +xref: GARD:17003 {source="Orphanet:163727"} xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"} @@ -237360,7 +242746,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011971 name: hyper-IgM syndrome type 5 def: "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010581"} +subset: gard_rare {source="GARD:10581"} subset: ordo_clinical_subtype {source="Orphanet:101092"} synonym: "HIGM5" EXACT ABBREVIATION [DOID:0060759, MONDO:Lexical, OMIM:608106, Orphanet:101092] synonym: "hyper IgM syndrome 5" RELATED [GARD:0010581] @@ -237374,6 +242760,7 @@ synonym: "immunodeficiency with hyper IgM, type 5" EXACT [OMIM:608106, OMIM:gene synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106] synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060759 {source="MONDO:equivalentTo"} +xref: GARD:10581 {source="Orphanet:101092"} xref: ICD10CM:D80.5 {source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/attributed", source="Orphanet:101092/ntbt"} xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/e"} xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"} @@ -237390,12 +242777,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10581/immuno id: MONDO:0011972 name: ovarian hyperstimulation syndrome def: "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." [MESH:D016471] +subset: gard_rare {source="GARD:16668"} subset: ordo_disease {source="Orphanet:64739"} synonym: "OHSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608115, Orphanet:64739] synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115] synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115] synonym: "secondary Meig's syndrome" EXACT [DOID:5425] xref: DOID:5425 {source="MONDO:equivalentTo"} +xref: GARD:16668 {source="Orphanet:64739"} xref: ICD10CM:N98.1 {source="Orphanet:64739/e", source="Orphanet:64739/specific", source="Orphanet:64739"} xref: ICD9:256.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10033266 {source="Orphanet:64739/e", source="Orphanet:64739"} @@ -237428,7 +242817,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011974 name: retinitis pigmentosa 7 def: "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." [DOID:0110383, PMID:1749427] -subset: gard_rare {source="GARD:0010386"} +subset: gard_rare {source="GARD:10386"} synonym: "Leber congenital amaurosis 18" RELATED [OMIM:608133] synonym: "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant" EXACT [OMIM:608133, OMIM:genemap2] synonym: "retinitis pigmentosa 7" EXACT [MONDO:Lexical, OMIM:608133] @@ -237439,6 +242828,7 @@ synonym: "retinitis pigmentosa type 7" EXACT [DOID:0110383, MONDORULE:1, OMIM:60 synonym: "RP 7" RELATED [GARD:0010386] synonym: "RP7" EXACT ABBREVIATION [DOID:0110383, MONDO:Lexical, OMIM:608133] xref: DOID:0110383 {source="MONDO:equivalentTo"} +xref: GARD:10386 {source="OMIM:608133"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110383"} xref: OMIM:608133 {source="MONDO:equivalentTo", source="DOID:0110383"} xref: Orphanet:791 {source="OMIM:608133"} @@ -237455,7 +242845,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10386/retini [Term] id: MONDO:0011975 name: paternal uniparental disomy of chromosome 14 -subset: gard_rare {source="GARD:0005409"} +subset: gard_rare {source="GARD:5409"} subset: ordo_etiological_subtype {source="Orphanet:96334"} synonym: "KAGAMI-Ogata syndrome" RELATED [OMIM:608149] synonym: "paternal uniparental disomy 14" RELATED [GARD:0005409] @@ -237463,6 +242853,7 @@ synonym: "paternal uniparental disomy of chromosome 14" EXACT CLINGEN_PREFERRED synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96334] synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149] synonym: "UPD(14)pat" EXACT [Orphanet:96334] +xref: GARD:5409 {source="Orphanet:96334"} xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="Orphanet:96334/attributed", source="Orphanet:96334/ntbt"} xref: MESH:C536471 {source="Orphanet:96334", source="MONDO:equivalentTo", source="Orphanet:96334/e"} xref: OMIM:608149 {source="MONDO:equivalentTo"} @@ -237480,10 +242871,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5409/unipare id: MONDO:0011976 name: lipodystrophy-intellectual disability-deafness syndrome def: "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." [Orphanet:50811] +subset: gard_rare {source="GARD:16646"} subset: ordo_disease {source="Orphanet:50811"} synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [OMIM:608154] synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [OMIM:608154] synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811] +xref: GARD:16646 {source="Orphanet:50811"} xref: ICD10CM:Q78.8 {source="Orphanet:50811", source="Orphanet:50811/attributed", source="Orphanet:50811/ntbt"} xref: MESH:C564283 {source="MONDO:equivalentTo"} xref: OMIM:608154 {source="MONDO:equivalentTo", source="Orphanet:50811", source="Orphanet:50811/e"} @@ -237501,12 +242894,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011977 name: 8q22.1 microdeletion syndrome def: "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." [Orphanet:178303] +subset: gard_rare {source="GARD:4722"} subset: ordo_malformation_syndrome {source="Orphanet:178303"} synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [OMIM:608156] synonym: "monosomy 8q22.1" EXACT [Orphanet:178303] synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156] synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303] synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608156] +xref: GARD:4722 {source="Orphanet:178303"} xref: ICD10CM:Q93.5 {source="Orphanet:178303", source="Orphanet:178303/attributed", source="Orphanet:178303/ntbt"} xref: MESH:C536110 {source="MONDO:equivalentTo"} xref: OMIM:608156 {source="MONDO:equivalentTo", source="Orphanet:178303", source="Orphanet:178303/e"} @@ -237539,6 +242934,7 @@ relationship: has_characteristic HP:0000007 {source="PMID:12948744"} ! Autosomal id: MONDO:0011979 name: adult-onset foveomacular vitelliform dystrophy def: "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:99000] +subset: gard_rare {source="GARD:10909"} subset: ordo_disease {source="Orphanet:99000"} synonym: "adult-onset foveomacular dystrophy" EXACT [Orphanet:99000] synonym: "adult-onset foveomacular dystrophy with choroidal neovascularization" EXACT [Orphanet:99000] @@ -237554,6 +242950,7 @@ synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1, OMIM:60816 synonym: "pseudo-Best disease" EXACT [Orphanet:99000] synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000] synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161] +xref: GARD:10909 {source="Orphanet:99000"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"} xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"} xref: SCTID:232049001 {source="MONDO:equivalentTo"} @@ -237614,6 +243011,7 @@ is_a: MONDO:0000162 {source="DC-OMIM:608176"} ! autoimmune thyroid disease, susc id: MONDO:0011984 name: synpolydactyly type 2 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17359"} subset: ordo_clinical_subtype {source="Orphanet:295197"} synonym: "FBLN1 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic synpolydactyly caused by mutation in FBLN1" EXACT [MONDO:design_pattern] @@ -237626,6 +243024,7 @@ synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180] synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [OMIM:608180, OMIM:genemap2] synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180] synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197] +xref: GARD:17359 {source="Orphanet:295197"} xref: ICD10CM:Q70.0 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} xref: MESH:C564278 {source="MONDO:equivalentTo"} @@ -237647,7 +243046,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011985 name: hyper-IgM syndrome type 4 def: "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." [Wikipedia:Hyper-IgM_syndrome_type_4] -subset: gard_rare {source="GARD:0010580"} +subset: gard_rare {source="GARD:10580"} subset: ordo_clinical_subtype {source="Orphanet:101091"} synonym: "HIGM4" EXACT ABBREVIATION [DOID:0060760, MONDO:Lexical, OMIM:608184, Orphanet:101091] synonym: "hyper IgM syndrome 4" RELATED [GARD:0010580] @@ -237657,6 +243056,7 @@ synonym: "immunodeficiency with hyper IgM type 4" RELATED [GARD:0010580] synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760] synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184] xref: DOID:0060760 {source="MONDO:equivalentTo"} +xref: GARD:10580 {source="Orphanet:101091"} xref: ICD10CM:D80.5 {source="DOID:0060760", source="Orphanet:101091", source="Orphanet:101091/attributed", source="Orphanet:101091/ntbt"} xref: MESH:C564277 {source="MONDO:equivalentTo"} xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="Orphanet:101091", source="Orphanet:101091/e"} @@ -237670,11 +243070,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10580/immuno id: MONDO:0011986 name: tropical pancreatitis def: "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." [Orphanet:103918] +subset: gard_rare {source="GARD:16946"} subset: ordo_disease {source="Orphanet:103918"} synonym: "fibrocalculous pancreatic diabetes, susceptibility to" RELATED [OMIM:608189, OMIM:genemap2] synonym: "TCP" EXACT ABBREVIATION [OMIM:608189, Orphanet:103918] synonym: "tropical calcific chronic pancreatitis" EXACT [Orphanet:103918] synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189] +xref: GARD:16946 {source="Orphanet:103918"} xref: ICD10CM:K86.1 {source="Orphanet:103918/ntbt", source="Orphanet:103918"} xref: MESH:C564276 {source="MONDO:equivalentTo"} xref: OMIM:608189 {source="Orphanet:103918/e", source="MONDO:equivalentTo", source="Orphanet:103918"} @@ -237694,12 +243096,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011987 name: cone-rod dystrophy 13 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15426"} synonym: "cone-rod dystrophy 13" EXACT [MONDO:Lexical, OMIM:608194] synonym: "cone-rod dystrophy caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 13" EXACT [DOID:0111016, MONDORULE:2, OMIM:608194] synonym: "CORD13" EXACT ABBREVIATION [DOID:0111016, MONDO:Lexical, OMIM:608194] synonym: "RPGRIP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111016 {source="MONDO:equivalentTo"} +xref: GARD:15426 {source="OMIM:608194"} xref: MESH:C567698 {source="MONDO:equivalentTo"} xref: OMIM:608194 {source="MONDO:equivalentTo", source="DOID:0111016"} xref: UMLS:C2750720 {source="OMIM:608194", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -237712,10 +243116,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011988 name: neutrophil immunodeficiency syndrome def: "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." [Orphanet:183707] +subset: gard_rare {source="GARD:17087", source="GARD:18299"} subset: ordo_disease {source="Orphanet:183707"} synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [OMIM:608203, OMIM:genemap2] synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203] xref: DOID:0112064 {source="MONDO:equivalentTo"} +xref: GARD:17087 {source="Orphanet:183707"} +xref: GARD:18299 {source="OMIM:608203"} xref: ICD10CM:D71 {source="Orphanet:183707/attributed", source="Orphanet:183707/ntbt", source="Orphanet:183707"} xref: MESH:C564275 {source="MONDO:equivalentTo"} xref: OMIM:608203 {source="Orphanet:183707", source="MONDO:equivalentTo", source="Orphanet:183707/e"} @@ -237732,6 +243139,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011989 name: leishmaniasis def: "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." [Orphanet:507] +subset: gard_rare {source="GARD:6881"} subset: ordo_disease {source="Orphanet:507"} synonym: "cutaneous leishmaniasis (subtype)" RELATED [GARD:0006881] synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065, NCIT:C34936] @@ -237740,6 +243148,7 @@ synonym: "post-kala-azar dermal leishmaniasis" RELATED [DOID:9065] synonym: "visceral leishmaniasis (subtype)" RELATED [GARD:0006881] xref: DOID:9065 {source="MONDO:equivalentTo", source="EFO:0005044"} xref: EFO:0005044 {source="MONDO:equivalentTo"} +xref: GARD:6881 {source="Orphanet:507"} xref: ICD10CM:B55 {source="MONDO:equivalentTo", source="DOID:9065"} xref: ICD10CM:B55.0 {source="Orphanet:507", source="Orphanet:507/btnt"} xref: ICD10CM:B55.1 {source="Orphanet:507", source="Orphanet:507/btnt"} @@ -237766,9 +243175,11 @@ property_value: confidence "1.0" xsd:double [Term] id: MONDO:0011990 name: seizures, benign familial neonatal, 3 +subset: gard_rare {source="GARD:15427"} synonym: "BFNS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608217] synonym: "convulsions, benign familial neonatal, 3" RELATED [OMIM:608217] synonym: "seizures, benign familial neonatal, 3" EXACT [MONDO:Lexical, OMIM:608217] +xref: GARD:15427 {source="OMIM:608217"} xref: MESH:C564274 {source="MONDO:equivalentTo"} xref: OMIM:608217 {source="MONDO:equivalentTo"} xref: Orphanet:1949 {source="OMIM:608217"} @@ -237780,12 +243191,14 @@ property_value: confidence "1.0647058823529414" xsd:double id: MONDO:0011991 name: autosomal recessive nonsyndromic hearing loss 38 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." [DOID:0110496, PMID:12890929] +subset: gard_rare {source="GARD:22606"} synonym: "autosomal recessive deafness 38" NARROW [DOID:0110496] synonym: "autosomal recessive nonsyndromic deafness 38" NARROW [OMIM:608219] synonym: "autosomal recessive nonsyndromic deafness type 38" NARROW [DOID:0110496, MONDORULE:2] synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical, OMIM:608219, OMIM:genemap2] synonym: "DFNB38" NARROW ABBREVIATION [DOID:0110496, MONDO:Lexical, OMIM:608219] xref: DOID:0110496 {source="MONDO:equivalentTo"} +xref: GARD:22606 {source="OMIM:608219"} xref: ICD10CM:H90.3 {source="DOID:0110496"} xref: MESH:C564273 {source="MONDO:equivalentTo"} xref: OMIM:608219 {source="MONDO:equivalentTo", source="DOID:0110496"} @@ -237798,6 +243211,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011992 name: hereditary spastic paraplegia 25 def: "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." [Orphanet:101005] +subset: gard_rare {source="GARD:9582"} subset: ordo_disease {source="Orphanet:101005"} synonym: "autosomal recessive spastic paraplegia 25" EXACT [DOID:0110776] synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776] @@ -237810,6 +243224,7 @@ synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, O synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED OMO:0003005 [] synonym: "spinal disk herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582] xref: DOID:0110776 {source="MONDO:equivalentTo"} +xref: GARD:9582 {source="Orphanet:101005"} xref: ICD10CM:G11.4 {source="DOID:0110776", source="Orphanet:101005/attributed", source="Orphanet:101005/ntbt", source="Orphanet:101005"} xref: MESH:C536861 {source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} @@ -237837,6 +243252,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011994 name: autosomal dominant nonsyndromic hearing loss 41 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18121"} synonym: "autosomal dominant deafness 41" NARROW [DOID:0110567] synonym: "autosomal dominant nonsyndromic deafness 41" NARROW [OMIM:608224] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" NARROW [MONDO:design_pattern] @@ -237846,6 +243262,7 @@ synonym: "deafness, autosomal dominant type 41" NARROW [MONDORULE:2, OMIM:608224 synonym: "DFNA41" NARROW ABBREVIATION [DOID:0110567, MONDO:Lexical, OMIM:608224] synonym: "P2RX2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110567 {source="MONDO:equivalentTo"} +xref: GARD:18121 {source="OMIM:608224"} xref: ICD10CM:H90.3 {source="DOID:0110567"} xref: MESH:C564272 {source="MONDO:equivalentTo"} xref: OMIM:608224 {source="DOID:0110567", source="MONDO:equivalentTo"} @@ -237861,9 +243278,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011995 name: cataract - congenital heart disease - neural tube defect syndrome def: "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." [Orphanet:314993] +subset: gard_rare {source="GARD:17440"} subset: ordo_malformation_syndrome {source="Orphanet:314993"} synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [OMIM:608227] synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [OMIM:608227] +xref: GARD:17440 {source="Orphanet:314993"} xref: MESH:C564271 {source="MONDO:equivalentTo"} xref: OMIM:608227 {source="Orphanet:314993/e", source="MONDO:equivalentTo", source="Orphanet:314993"} xref: Orphanet:314993 {source="OMIM:608227", source="MONDO:equivalentTo"} @@ -237878,6 +243297,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011996 name: chronic myelogenous leukemia, BCR-ABL1 positive def: "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." [NCIT:C3174] +subset: gard_rare {source="GARD:6105"} subset: ordo_disease {source="Orphanet:521"} synonym: "BCR-ABL Positive chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174] @@ -237907,6 +243327,7 @@ synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, M xref: DOID:0081088 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"} xref: EFO:0000339 {source="MONDO:equivalentTo", source="DOID:8552"} +xref: GARD:6105 {source="Orphanet:521"} xref: ICD10CM:C92.1 {source="Orphanet:521", source="Orphanet:521/e"} xref: ICD9:205.1 {source="DOID:8552", source="EFO:0000339"} xref: ICDO:9863/3 {source="NCIT:C3174"} @@ -237938,7 +243359,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011997 name: Hermansky-Pudlak syndrome 2 def: "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." [Orphanet:183678] -subset: gard_rare {source="GARD:0009435"} +subset: gard_rare {source="GARD:15026", source="GARD:9435"} subset: ordo_clinical_subtype {source="Orphanet:183678"} synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435] @@ -237950,6 +243371,8 @@ synonym: "HPS-2" EXACT ABBREVIATION [Orphanet:183678] synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608233, Orphanet:183678] synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435] xref: DOID:0060540 {source="MONDO:equivalentTo"} +xref: GARD:15026 {source="Orphanet:183678"} +xref: GARD:9435 {source="OMIM:608233"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678/attributed", source="Orphanet:183678/ntbt", source="Orphanet:183678"} xref: MESH:C537709 {source="MONDO:equivalentTo"} xref: NCIT:C150368 {source="MONDO:equivalentTo"} @@ -237970,11 +243393,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9435/hermans id: MONDO:0011998 name: autosomal dominant slowed nerve conduction velocity def: "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." [Orphanet:140481] +subset: gard_rare {source="GARD:16962"} subset: ordo_disease {source="Orphanet:140481"} synonym: "autosomal dominant slowed nerve conduction velocity" EXACT CLINGEN_PREFERRED [] synonym: "slowed nerve conduction velocity, AD" EXACT [OMIM:608236, OMIM:genemap2] synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236] synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608236] +xref: GARD:16962 {source="Orphanet:140481"} xref: ICD10CM:G60.0 {source="Orphanet:140481/attributed", source="Orphanet:140481/ntbt", source="Orphanet:140481"} xref: MESH:C564269 {source="MONDO:equivalentTo"} xref: OMIM:608236 {source="Orphanet:140481", source="MONDO:equivalentTo", source="Orphanet:140481/e"} @@ -238034,12 +243459,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012002 name: autosomal recessive nonsyndromic hearing loss 40 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1." [DOID:0110499, PMID:14512974] +subset: gard_rare {source="GARD:22607"} synonym: "autosomal recessive deafness 40" NARROW [DOID:0110499] synonym: "autosomal recessive nonsyndromic deafness 40" NARROW [OMIM:608264] synonym: "autosomal recessive nonsyndromic deafness type 40" NARROW [DOID:0110499, MONDORULE:2] synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical, OMIM:608264, OMIM:genemap2] synonym: "DFNB40" NARROW ABBREVIATION [DOID:0110499, MONDO:Lexical, OMIM:608264] xref: DOID:0110499 {source="MONDO:equivalentTo"} +xref: GARD:22607 {source="OMIM:608264"} xref: ICD10CM:H90.3 {source="DOID:0110499"} xref: MESH:C564266 {source="MONDO:equivalentTo"} xref: OMIM:608264 {source="MONDO:equivalentTo", source="DOID:0110499"} @@ -238054,6 +243481,7 @@ id: MONDO:0012003 name: autosomal recessive nonsyndromic hearing loss 39 def: "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." [NCIT:C129874] subset: clingen +subset: gard_rare {source="GARD:22608"} synonym: "autosomal recessive deafness 39" NARROW [DOID:0110497] synonym: "autosomal recessive nonsyndromic deafness 39" NARROW CLINGEN_PREFERRED [OMIM:608265] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" NARROW [MONDO:design_pattern] @@ -238063,6 +243491,7 @@ synonym: "deafness, autosomal recessive type 39" NARROW [MONDORULE:2, OMIM:60826 synonym: "DFNB39" NARROW ABBREVIATION [DOID:0110497, MONDO:Lexical, OMIM:608265] synonym: "HGF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110497 {source="MONDO:equivalentTo"} +xref: GARD:22608 {source="OMIM:608265"} xref: ICD10CM:H90.3 {source="DOID:0110497"} xref: MESH:C564265 {source="MONDO:equivalentTo"} xref: NCIT:C129874 {source="MONDO:equivalentTo"} @@ -238080,6 +243509,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012004 name: parathyroid gland carcinoma def: "A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." [https://orcid.org/0000-0001-5208-3432, Orphanet:143] +subset: gard_rare {source="GARD:7329"} subset: ordo_disease {source="Orphanet:143"} synonym: "adenocarcinoma of parathyroid" EXACT [NCIT:C4906] synonym: "adenocarcinoma of parathyroid gland" EXACT [NCIT:C4906] @@ -238108,6 +243538,7 @@ synonym: "parathyroid neoplasm" BROAD [DOID:1540] synonym: "PRTC" RELATED ABBREVIATION [OMIM:608266] xref: DOID:1540 {source="MONDO:equivalentTo"} xref: EFO:1000456 {source="MONDO:equivalentTo"} +xref: GARD:7329 {source="Orphanet:143"} xref: ICD10CM:C75.0 {source="DOID:1540", source="Orphanet:143/ntbt", source="Orphanet:143"} xref: ICD9:194.1 {source="DOID:1540"} xref: MESH:D010282 {source="DOID:1540"} @@ -238167,11 +243598,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012008 name: Lelis syndrome def: "Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." [Orphanet:140936] -subset: gard_rare {source="GARD:0010367"} +subset: gard_rare {source="GARD:10367"} subset: ordo_malformation_syndrome {source="Orphanet:140936"} synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [OMIM:608290] synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:140936] synonym: "Lelis syndrome" EXACT [OMIM:608290] +xref: GARD:10367 {source="Orphanet:140936"} xref: MESH:C564261 {source="MONDO:equivalentTo"} xref: OMIM:608290 {source="Orphanet:140936", source="MONDO:equivalentTo", source="Orphanet:140936/e"} xref: Orphanet:140936 {source="OMIM:608290", source="MONDO:equivalentTo"} @@ -238237,6 +243669,7 @@ property_value: confidence "2.5555555555555554" xsd:double id: MONDO:0012012 name: Charcot-Marie-Tooth disease dominant intermediate C def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs." [Orphanet:100045] +subset: gard_rare {source="GARD:12439"} subset: ordo_disease {source="Orphanet:100045"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199] synonym: "Charcot-Marie-Tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern] @@ -238251,6 +243684,7 @@ synonym: "Di-Cmtc" RELATED [OMIM:608323] synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439] xref: DOID:0110199 {source="MONDO:equivalentTo"} +xref: GARD:12439 {source="Orphanet:100045"} xref: ICD10CM:G60.0 {source="Orphanet:100045/attributed", source="Orphanet:100045/ntbt", source="Orphanet:100045", source="DOID:0110199"} xref: MESH:C564257 {source="MONDO:equivalentTo"} xref: OMIM:608323 {source="Orphanet:100045", source="MONDO:equivalentTo", source="Orphanet:100045/e", source="DOID:0110199"} @@ -238268,6 +243702,7 @@ property_value: confidence "22.333333333333343" xsd:double id: MONDO:0012013 name: Weill-Marchesani syndrome 2, dominant def: "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." [Orphanet:2084] +subset: gard_rare {source="GARD:15428", source="GARD:2452"} subset: ordo_malformation_syndrome {source="Orphanet:2084"} synonym: "GEMSS" EXACT ABBREVIATION [GARD:0002452] synonym: "GEMSS syndrome" EXACT [Orphanet:2084] @@ -238279,6 +243714,8 @@ synonym: "Weill-Marchesani syndrome 2" EXACT [MONDO:Lexical, OMIM:608328] synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328] synonym: "Weill-Marchesani syndrome, autosomal dominant" EXACT [OMIM:608328] synonym: "WMS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608328] +xref: GARD:15428 {source="OMIM:608328"} +xref: GARD:2452 {source="Orphanet:2084"} xref: ICD10CM:Q87.1 {source="Orphanet:2084/attributed", source="Orphanet:2084/ntbt", source="Orphanet:2084"} xref: OMIM:608328 {source="Orphanet:2084/e", source="MONDO:equivalentTo", source="Orphanet:2084"} xref: Orphanet:2084 {source="OMIM:608328", source="MONDO:equivalentTo"} @@ -238297,6 +243734,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012014 name: Charcot-Marie-Tooth disease recessive intermediate A def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." [Orphanet:217055] +subset: gard_rare {source="GARD:12453"} subset: ordo_disease {source="Orphanet:217055"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201] synonym: "Charcot-Marie-Tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern] @@ -238312,6 +243750,7 @@ synonym: "RI-CMT type A" EXACT [Orphanet:217055] synonym: "RI-CMTA" EXACT [DOID:0110201] synonym: "Ri-Cmta" RELATED [OMIM:608340] xref: DOID:0110201 {source="MONDO:equivalentTo"} +xref: GARD:12453 {source="Orphanet:217055"} xref: ICD10CM:G60.0 {source="Orphanet:217055/attributed", source="Orphanet:217055/ntbt", source="Orphanet:217055"} xref: MESH:C564256 {source="MONDO:equivalentTo"} xref: OMIM:608340 {source="Orphanet:217055/e", source="MONDO:equivalentTo", source="Orphanet:217055", source="DOID:0110201"} @@ -238341,13 +243780,14 @@ property_value: confidence "5.0" xsd:double id: MONDO:0012016 name: capillary malformation-arteriovenous malformation syndrome def: "This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." [Orphanet:137667] -subset: gard_rare {source="GARD:0011904"} +subset: gard_rare {source="GARD:11904"} subset: ordo_malformation_syndrome {source="Orphanet:137667"} synonym: "capillary malformation without arteriovenous malformation" RELATED [OMIM:608354] synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical, OMIM:608354] synonym: "CM-AVM" EXACT [Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608354] +xref: GARD:11904 {source="Orphanet:137667"} xref: ICD10CM:Q27.3 {source="Orphanet:137667/attributed", source="Orphanet:137667/ntbt", source="Orphanet:137667"} xref: ICD9:747.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564254 {source="MONDO:equivalentTo"} @@ -238374,6 +243814,7 @@ replaced_by: MONDO:0020783 [Term] id: MONDO:0012018 name: obsolete myopathy, myosin storage, autosomal dominant +xref: GARD:15429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6045" xsd:anyURI is_obsolete: true @@ -238383,11 +243824,13 @@ replaced_by: MONDO:0008409 id: MONDO:0012019 name: spondyloepiphyseal dysplasia, Kimberley type def: "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." [Orphanet:93283] +subset: gard_rare {source="GARD:16814"} subset: ordo_disease {source="Orphanet:93283"} synonym: "SEDK" RELATED ABBREVIATION [OMIM:608361] synonym: "Sedk" RELATED [OMIM:608361] synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361] xref: DOID:0112282 {source="MONDO:equivalentTo"} +xref: GARD:16814 {source="Orphanet:93283"} xref: ICD10CM:Q77.7 {source="Orphanet:93283/attributed", source="Orphanet:93283/ntbt", source="Orphanet:93283"} xref: MESH:C564252 {source="MONDO:equivalentTo"} xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", source="Orphanet:93283"} @@ -238403,7 +243846,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012020 name: chromosome 22q11.2 microduplication syndrome def: "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." [Orphanet:1727] -subset: gard_rare +subset: gard_rare {source="GARD:10557"} subset: ordo_malformation_syndrome {source="Orphanet:1727"} synonym: "22q11 duplication syndrome" EXACT [DECIPHER:32] synonym: "22q11.2 duplication" RELATED [GARD:0010557] @@ -238419,6 +243862,7 @@ synonym: "duplication 22q11.2" EXACT [DOID:0060436] synonym: "trisomy 22q11.2" EXACT [DOID:0060436, Orphanet:1727] xref: DECIPHER:32 {source="MONDO:equivalentTo"} xref: DOID:0060436 {source="MONDO:equivalentTo"} +xref: GARD:10557 {source="Orphanet:1727"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567224 {source="MONDO:equivalentTo"} xref: OMIM:608363 {source="Orphanet:1727/e", source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727"} @@ -238465,12 +243909,14 @@ relationship: has_characteristic MONDO:0021128 ! has an isolated presentation id: MONDO:0012023 name: autosomal dominant nonsyndromic hearing loss 49 def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." [DOID:0110572, PMID:14627674] +subset: gard_rare {source="GARD:18122"} synonym: "autosomal dominant deafness 49" NARROW [DOID:0110572] synonym: "autosomal dominant nonsyndromic deafness 49" NARROW [OMIM:608372] synonym: "autosomal dominant nonsyndromic deafness type 49" NARROW [DOID:0110572, MONDORULE:2] synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical, OMIM:608372, OMIM:genemap2] synonym: "DFNA49" NARROW ABBREVIATION [DOID:0110572, MONDO:Lexical, OMIM:608372] xref: DOID:0110572 {source="MONDO:equivalentTo"} +xref: GARD:18122 {source="OMIM:608372"} xref: ICD10CM:H90.3 {source="DOID:0110572"} xref: MESH:C564250 {source="MONDO:equivalentTo"} xref: OMIM:608372 {source="MONDO:equivalentTo", source="DOID:0110572"} @@ -238483,7 +243929,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012024 name: retinitis pigmentosa 26 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010397"} +subset: gard_rare {source="GARD:10397"} synonym: "CERKL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 26" EXACT [MONDO:Lexical, OMIM:608380] synonym: "retinitis pigmentosa caused by mutation in CERKL" EXACT [MONDO:design_pattern] @@ -238491,6 +243937,7 @@ synonym: "retinitis pigmentosa type 26" EXACT [DOID:0110368, MONDORULE:2, OMIM:6 synonym: "RP 26" RELATED [GARD:0010397] synonym: "RP26" EXACT ABBREVIATION [DOID:0110368, MONDO:Lexical, OMIM:608380] xref: DOID:0110368 {source="MONDO:equivalentTo"} +xref: GARD:10397 {source="OMIM:608380"} xref: ICD10CM:H35.5 {source="DOID:0110368", source="MONDO:relatedTo"} xref: MESH:C564249 {source="MONDO:equivalentTo"} xref: OMIM:608380 {source="DOID:0110368", source="MONDO:equivalentTo"} @@ -238508,12 +243955,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10397/retini id: MONDO:0012025 name: branchiootic syndrome 3 def: "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15430"} synonym: "bo syndrome 3" RELATED [OMIM:608389] synonym: "BOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608389] synonym: "branchiootic syndrome 3" EXACT [MONDO:Lexical, OMIM:608389] synonym: "branchiootic syndrome caused by mutation in SIX1" EXACT [MONDO:design_pattern] synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1, OMIM:608389] synonym: "SIX1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15430 {source="OMIM:608389"} xref: MESH:C564248 {source="MONDO:equivalentTo"} xref: OMIM:608389 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:608389"} @@ -238565,11 +244014,13 @@ relationship: predisposes_towards MONDO:0007179 {source="OMIM:608392"} ! autoimm id: MONDO:0012029 name: microcephaly 6, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15431"} synonym: "autosomal recessive primary microcephaly caused by mutation in CENPJ" EXACT [MONDO:design_pattern] synonym: "CENPJ autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608393] synonym: "microcephaly 6, primary, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608393] xref: DOID:0070290 {source="MONDO:equivalentTo"} +xref: GARD:15431 {source="OMIM:608393"} xref: MESH:C564247 {source="MONDO:equivalentTo"} xref: OMIM:608393 {source="MONDO:equivalentTo"} xref: UMLS:C1842109 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608393"} @@ -238583,12 +244034,14 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0012030 name: autosomal dominant nonsyndromic hearing loss 43 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." [DOID:0110568, PMID:12676899] +subset: gard_rare {source="GARD:18123"} synonym: "autosomal dominant deafness 43" NARROW [DOID:0110568] synonym: "autosomal dominant nonsyndromic deafness 43" NARROW [OMIM:608394] synonym: "autosomal dominant nonsyndromic deafness type 43" NARROW [DOID:0110568, MONDORULE:2] synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical, OMIM:608394, OMIM:genemap2] synonym: "DFNA43" NARROW ABBREVIATION [DOID:0110568, MONDO:Lexical, OMIM:608394] xref: DOID:0110568 {source="MONDO:equivalentTo"} +xref: GARD:18123 {source="OMIM:608394"} xref: ICD10CM:H90.3 {source="DOID:0110568"} xref: MESH:C564246 {source="MONDO:equivalentTo"} xref: OMIM:608394 {source="DOID:0110568", source="MONDO:equivalentTo"} @@ -238625,9 +244078,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012032 name: Braddock syndrome def: "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." [Orphanet:52047] +subset: gard_rare {source="GARD:16652"} subset: ordo_malformation_syndrome {source="Orphanet:52047"} synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406] synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047] +xref: GARD:16652 {source="Orphanet:52047"} xref: ICD10CM:Q87.8 {source="Orphanet:52047/attributed", source="Orphanet:52047/ntbt", source="Orphanet:52047"} xref: MESH:C564244 {source="MONDO:equivalentTo"} xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="Orphanet:52047/e"} @@ -238645,13 +244100,14 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012033 name: bradyopsia def: "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." [Orphanet:75374] -subset: gard_rare {source="GARD:0012299"} +subset: gard_rare {source="GARD:12299"} subset: ordo_disease {source="Orphanet:75374"} synonym: "bradyopsia" EXACT CLINGEN_PREFERRED [OMIM:608415] synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608415, Orphanet:75374] synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374] xref: DOID:0050335 {source="MONDO:equivalentTo"} xref: DOID:0070363 {source="MONDO:equivalentTo"} +xref: GARD:12299 {source="Orphanet:75374"} xref: ICD10CM:H53.8 {source="Orphanet:75374/attributed", source="Orphanet:75374/ntbt", source="Orphanet:75374"} xref: ICD9:368.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo"} @@ -238669,6 +244125,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12299/bradyo id: MONDO:0012034 name: autosomal dominant limb-girdle muscular dystrophy type 1F def: "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." [Orphanet:55595] +subset: gard_rare {source="GARD:12530"} subset: ordo_disease {source="Orphanet:55595"} synonym: "LGMD1F" EXACT ABBREVIATION [DOID:0110304, MONDO:Lexical, OMIM:608423, Orphanet:55595] synonym: "limb-girdle muscular dystrophy type 1F" RELATED [GARD:0012530] @@ -238676,6 +244133,7 @@ synonym: "muscular dystrophy limb-girdle type 1F" EXACT [DOID:0110304] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608423, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423] xref: DOID:0110304 {source="MONDO:equivalentTo"} +xref: GARD:12530 {source="Orphanet:55595"} xref: ICD10CM:G71.0 {source="DOID:0110304", source="Orphanet:55595/ntbt", source="Orphanet:55595/inclusion", source="Orphanet:55595"} xref: MESH:C564242 {source="MONDO:equivalentTo"} xref: OMIM:608423 {source="Orphanet:55595/e", source="DOID:0110304", source="MONDO:equivalentTo", source="Orphanet:55595"} @@ -238690,9 +244148,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012035 name: craniosynostosis-intracranial calcifications syndrome def: "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." [Orphanet:52054] +subset: gard_rare {source="GARD:16653"} subset: ordo_malformation_syndrome {source="Orphanet:52054"} synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432] synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054] +xref: GARD:16653 {source="Orphanet:52054"} xref: ICD10CM:Q87.0 {source="Orphanet:52054/attributed", source="Orphanet:52054/ntbt", source="Orphanet:52054"} xref: MESH:C564241 {source="MONDO:equivalentTo"} xref: OMIM:608432 {source="Orphanet:52054/e", source="MONDO:equivalentTo", source="Orphanet:52054"} @@ -238720,6 +244180,7 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0012037 name: intellectual disability, autosomal recessive 3 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22539"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A" EXACT [MONDO:design_pattern] synonym: "CC2D1A autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, autosomal recessive 3" EXACT [MONDO:Lexical, OMIM:608443] @@ -238728,6 +244189,7 @@ synonym: "mental retardation, autosomal recessive 3" EXACT DEPRECATED [MONDO:Lex synonym: "mental retardation, autosomal recessive type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:608443] synonym: "MRT3" EXACT DEPRECATED [MONDO:Lexical, OMIM:608443] xref: DOID:0081179 {source="MONDO:equivalentTo"} +xref: GARD:22539 {source="OMIM:608443"} xref: MESH:C563929 {source="MONDO:equivalentTo"} xref: OMIM:608443 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:608443"} @@ -238788,7 +244250,7 @@ id: MONDO:0012041 name: familial adenomatous polyposis 2 def: "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." [NCIT:C96520] subset: clingen -subset: gard_rare {source="GARD:0010805"} +subset: gard_rare {source="GARD:10805"} subset: ordo_clinical_subtype {source="Orphanet:247798"} synonym: "adenomas, multiple colorectal, autosomal recessive" EXACT [OMIM:608456] synonym: "autosomal recessive familial adenomatous polyposis" RELATED [GARD:0010805] @@ -238807,6 +244269,7 @@ synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:2477 synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798] synonym: "MYH-associated polyposis" RELATED [GARD:0010805] xref: DOID:0080410 {source="MONDO:equivalentTo"} +xref: GARD:10805 {source="Orphanet:247798"} xref: ICD10CM:D12.6 {source="Orphanet:247798", source="Orphanet:247798/attributed", source="Orphanet:247798/ntbt"} xref: MESH:C563924 {source="MONDO:equivalentTo"} xref: NCIT:C96520 {source="MONDO:equivalentTo"} @@ -238825,9 +244288,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10805/myh-as [Term] id: MONDO:0012042 name: Hirschsprung disease, susceptibility to, 8 +subset: gard_rare {source="GARD:15432"} subset: predisposition synonym: "Hirschsprung disease, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:608462] synonym: "HSCR8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608462] +xref: GARD:15432 {source="OMIM:608462"} xref: OMIM:608462 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:608462"} xref: UMLS:C1969482 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608462"} @@ -238838,6 +244303,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012043 name: Reis-Bucklers corneal dystrophy def: "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." [Orphanet:98961] +subset: gard_rare {source="GARD:9276"} subset: ordo_disease {source="Orphanet:98961"} synonym: "anterior limiting membrane dystrophy type 1" EXACT [Orphanet:98961] synonym: "anterior limiting membrane dystrophy type I" EXACT [DOID:0060453, Orphanet:98961] @@ -238862,6 +244328,7 @@ synonym: "Reis-Bucklers corneal dystrophy" EXACT [OMIM:608470] synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961] synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961] xref: DOID:0060453 {source="MONDO:equivalentTo"} +xref: GARD:9276 {source="Orphanet:98961"} xref: ICD10CM:H18.5 {source="Orphanet:98961", source="Orphanet:98961/attributed", source="Orphanet:98961/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"} @@ -238878,12 +244345,13 @@ property_value: confidence "26.499999999999996" xsd:double id: MONDO:0012044 name: corneal dystrophy, lattice type 3A def: "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically." [GARD:0010320] -subset: gard_rare +subset: gard_rare {source="GARD:10320"} synonym: "CDL3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608471] synonym: "corneal dystrophy, lattice type IIIA" RELATED [MONDO:Lexical, OMIM:608471] synonym: "lattice corneal dystrophy type 3A" RELATED [GARD:0010320] synonym: "lattice corneal dystrophy type III A" RELATED [GARD:0010320] synonym: "lattice corneal dystrophy, type 3A" RELATED [OMIM:608471] +xref: GARD:10320 {source="OMIM:608471"} xref: MESH:C563923 {source="MONDO:equivalentTo"} xref: OMIM:608471 {source="GARD:0010320", source="MONDO:equivalentTo"} xref: Orphanet:98964 {source="OMIM:608471"} @@ -239007,6 +244475,7 @@ property_value: confidence "0.4917695473251029" xsd:double id: MONDO:0012052 name: ALG1-congenital disorder of glycosylation def: "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." [Orphanet:79327] +subset: gard_rare {source="GARD:9838"} subset: ordo_disease {source="Orphanet:79327"} synonym: "ALG1-CDG" EXACT ABBREVIATION [Orphanet:79327] synonym: "ALG1-CDG (CDG-Ik)" RELATED [GARD:0009838] @@ -239022,6 +244491,7 @@ synonym: "congenital disorder of glycosylation type Ik" EXACT [Orphanet:79327] synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, OMIM:608540] synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327] xref: DOID:0080563 {source="MONDO:equivalentTo"} +xref: GARD:9838 {source="Orphanet:79327"} xref: ICD10CM:E77.8 {source="Orphanet:79327/attributed", source="Orphanet:79327/ntbt", source="Orphanet:79327"} xref: MESH:C535749 {source="MONDO:equivalentTo"} xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="Orphanet:79327/e"} @@ -239039,9 +244509,11 @@ property_value: confidence "12.055555555555557" xsd:double [Term] id: MONDO:0012053 name: aneurysm, intracranial berry, 2 +subset: gard_rare {source="GARD:10033"} synonym: "aneurysm, intracranial BERRY, 2" RELATED [MONDO:Lexical, OMIM:608542] synonym: "ANIB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608542] xref: DOID:0080965 {source="MONDO:equivalentTo"} +xref: GARD:10033 {source="OMIM:608542"} xref: MESH:C536360 {source="MONDO:equivalentTo"} xref: OMIM:608542 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:608542"} @@ -239067,10 +244539,12 @@ is_a: MONDO:0005090 {source="DC-OMIM:608543", source="DOID:0070088"} ! schizophr id: MONDO:0012055 name: Larsen-like osseous dysplasia-short stature syndrome def: "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." [Orphanet:2370] +subset: gard_rare {source="GARD:16595"} subset: ordo_malformation_syndrome {source="Orphanet:2370"} synonym: "Larsen-like syndrome" RELATED [OMIM:608545] synonym: "Larsen-like syndrome, isolated cases" EXACT [OMIM:608545, OMIM:genemap2] synonym: "Lrsl" RELATED [OMIM:608545] +xref: GARD:16595 {source="Orphanet:2370"} xref: ICD10CM:Q74.8 {source="Orphanet:2370/attributed", source="Orphanet:2370/ntbt", source="Orphanet:2370"} xref: MESH:C563914 {source="MONDO:equivalentTo"} xref: OMIM:608545 {source="Orphanet:2370/e", source="MONDO:equivalentTo", source="Orphanet:2370"} @@ -239085,7 +244559,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012056 name: Leber congenital amaurosis 9 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009491"} +subset: gard_rare {source="GARD:9491"} synonym: "amaurosis congenita of Leber, type 9" RELATED [GARD:0009491] synonym: "LCA9" EXACT ABBREVIATION [DOID:0110005, MONDO:Lexical, OMIM:608553] synonym: "Leber congenital amaurosis 9" EXACT [MONDO:Lexical, OMIM:608553] @@ -239093,6 +244567,7 @@ synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" EXACT [MONDO: synonym: "Leber congenital amaurosis type 9" EXACT [DOID:0110005, MONDORULE:1, OMIM:608553] synonym: "NMNAT1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110005 {source="MONDO:equivalentTo"} +xref: GARD:9491 {source="OMIM:608553"} xref: ICD10CM:H35.5 {source="DOID:0110005", source="MONDO:relatedTo"} xref: MESH:C536603 {source="MONDO:equivalentTo"} xref: OMIM:608553 {source="DOID:0110005", source="MONDO:equivalentTo"} @@ -239141,9 +244616,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012059 name: polydactyly, postaxial, type A4 +subset: gard_rare {source="GARD:18175"} synonym: "Papa4" RELATED [OMIM:608562] synonym: "polydactyly, postaxial, type A4" EXACT [OMIM:608562] synonym: "postaxial polydactyly, type A4" RELATED [OMIM:608562] +xref: GARD:18175 {source="OMIM:608562"} xref: MESH:C563909 {source="MONDO:equivalentTo"} xref: OMIM:608562 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:608562"} @@ -239155,6 +244632,7 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0012060 name: autosomal recessive nonsyndromic hearing loss 35 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22609"} synonym: "autosomal recessive deafness 35" NARROW [DOID:0110493] synonym: "autosomal recessive nonsyndromic deafness 35" NARROW CLINGEN_PREFERRED [OMIM:608565] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" NARROW [MONDO:design_pattern] @@ -239164,6 +244642,7 @@ synonym: "deafness, autosomal recessive type 35" NARROW [MONDORULE:2, OMIM:60856 synonym: "DFNB35" NARROW ABBREVIATION [DOID:0110493, MONDO:Lexical, OMIM:608565] synonym: "ESRRB autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110493 {source="MONDO:equivalentTo"} +xref: GARD:22609 {source="OMIM:608565"} xref: ICD10CM:H90.3 {source="DOID:0110493"} xref: MESH:C563908 {source="MONDO:equivalentTo"} xref: OMIM:608565 {source="MONDO:equivalentTo", source="DOID:0110493"} @@ -239179,11 +244658,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012061 name: familial sick sinus syndrome def: "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." [Orphanet:166282] +subset: gard_rare {source="GARD:13663"} subset: ordo_disease {source="Orphanet:166282"} synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282] synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary] synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567] synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567] +xref: GARD:13663 {source="Orphanet:166282"} xref: ICD10CM:I49.5 {source="Orphanet:166282/attributed", source="Orphanet:166282/ntbt", source="Orphanet:166282"} xref: MedDRA:10040639 {source="Orphanet:166282/e", source="Orphanet:166282"} xref: MESH:C563907 {source="MONDO:equivalentTo"} @@ -239202,6 +244683,7 @@ property_value: confidence "1.1441176470588235" xsd:double id: MONDO:0012062 name: dilated cardiomyopathy 1O def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15434"} synonym: "ABCC9 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical, OMIM:608569] synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4, OMIM:608569] @@ -239211,6 +244693,7 @@ synonym: "dilated cardiomyopathy type 1O" EXACT [DOID:0110451, MONDORULE:4] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [DOID:0110451] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ABCC9" EXACT [MONDO:design_pattern] xref: DOID:0110451 {source="MONDO:equivalentTo"} +xref: GARD:15434 {source="OMIM:608569"} xref: ICD10CM:I42.0 {source="DOID:0110451"} xref: MESH:C563906 {source="MONDO:equivalentTo"} xref: OMIM:608569 {source="MONDO:equivalentTo", source="DOID:0110451"} @@ -239223,9 +244706,11 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0012063 name: ulnar/fibula ray defect-brachydactyly syndrome def: "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." [Orphanet:52056] +subset: gard_rare {source="GARD:16654"} subset: ordo_malformation_syndrome {source="Orphanet:52056"} synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056] synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571] +xref: GARD:16654 {source="Orphanet:52056"} xref: ICD10CM:Q73.8 {source="Orphanet:52056", source="Orphanet:52056/attributed", source="Orphanet:52056/ntbt"} xref: MESH:C563905 {source="MONDO:equivalentTo"} xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="Orphanet:52056/e"} @@ -239239,7 +244724,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012064 name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome def: "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." [Orphanet:1200] -subset: gard_rare {source="GARD:0010041"} +subset: gard_rare {source="GARD:10041"} subset: ordo_malformation_syndrome {source="Orphanet:1200"} synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" RELATED [GARD:0010041] synonym: "BMKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608572] @@ -239247,6 +244732,7 @@ synonym: "Burn-McKeown syndrome" EXACT [MONDO:Lexical, OMIM:608572, Orphanet:120 synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041] synonym: "oculootofacial dysplasia" EXACT [OMIM:608572] xref: DOID:0080695 {source="MONDO:equivalentTo"} +xref: GARD:10041 {source="Orphanet:1200"} xref: ICD10CM:Q87.8 {source="Orphanet:1200", source="Orphanet:1200/attributed", source="Orphanet:1200/ntbt"} xref: MESH:C537411 {source="Orphanet:1200", source="Orphanet:1200/e"} xref: MESH:C563682 {source="MONDO:equivalentTo"} @@ -239329,7 +244815,7 @@ replaced_by: MONDO:0013753 id: MONDO:0012071 name: congenital generalized lipodystrophy type 1 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:84"} synonym: "AGPAT2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "AGPAT2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "AGPAT2-related Brunzell syndrome" RELATED [GARD:0000084] @@ -239345,6 +244831,7 @@ synonym: "congenital generalized lipodystrophy type 1" EXACT CLINGEN_PREFERRED [ synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [OMIM:608594] synonym: "lipodystrophy, congenital generalized, type 1" RELATED [MONDO:Lexical, OMIM:608594] xref: DOID:0111135 {source="MONDO:equivalentTo"} +xref: GARD:84 {source="OMIM:608594"} xref: ICD10CM:E88.1 {source="DOID:0111135"} xref: OMIM:608594 {source="MONDO:equivalentTo", source="DOID:0111135", source="GARD:0000084"} xref: Orphanet:528 {source="OMIM:608594"} @@ -239360,6 +244847,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0012072 name: familial partial lipodystrophy, Kobberling type def: "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." [Orphanet:79084] +subset: gard_rare {source="GARD:12598"} subset: ordo_disease {source="Orphanet:79084"} synonym: "familial partial lipodystrophy type 1" EXACT [Orphanet:79084] synonym: "familial partial lipodystrophy type Köbberling" RELATED [GARD:0012598] @@ -239368,6 +244856,7 @@ synonym: "FPLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608600, Orphanet:79084] synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600] synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600] xref: DOID:0070207 {source="MONDO:equivalentTo"} +xref: GARD:12598 {source="Orphanet:79084"} xref: ICD10CM:E88.1 {source="Orphanet:79084", source="Orphanet:79084/attributed", source="Orphanet:79084/ntbt"} xref: OMIM:608600 {source="MONDO:equivalentTo", source="Orphanet:79084", source="Orphanet:79084/e"} xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"} @@ -239380,8 +244869,10 @@ property_value: confidence "3.3000000000000007" xsd:double id: MONDO:0012073 name: ribose-5-P isomerase deficiency def: "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." [Orphanet:440706] +subset: gard_rare {source="GARD:17747"} subset: ordo_disease {source="Orphanet:440706"} synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611] +xref: GARD:17747 {source="Orphanet:440706"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563212 {source="MONDO:equivalentTo"} xref: OMIM:608611 {source="Orphanet:440706/e", source="MONDO:equivalentTo", source="Orphanet:440706"} @@ -239397,13 +244888,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012074 name: mandibuloacral dysplasia with type B lipodystrophy -subset: gard_rare {source="GARD:0009989"} +subset: gard_rare {source="GARD:9989"} subset: ordo_clinical_subtype {source="Orphanet:90154"} synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [OMIM:608612] synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608612] synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [OMIM:608612] synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612] xref: DOID:0081129 {source="MONDO:equivalentTo"} +xref: GARD:9989 {source="Orphanet:90154"} xref: ICD10CM:Q87.5 {source="Orphanet:90154/attributed", source="Orphanet:90154/ntbt", source="Orphanet:90154"} xref: MESH:C535706 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} @@ -239421,12 +244913,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9989/mandibu [Term] id: MONDO:0012075 name: oligodontia-cancer predisposition syndrome +subset: gard_rare {source="GARD:17376"} subset: ordo_disease {source="Orphanet:300576"} synonym: "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" EXACT [Orphanet:300576] synonym: "ODCRCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608615] synonym: "oligodontia-cancer predisposition syndrome" EXACT CLINGEN_PREFERRED [] synonym: "oligodontia-colorectal cancer syndrome" EXACT [MESH:C563898, MONDO:Lexical, OMIM:608615] synonym: "tooth agenesis-colorectal cancer syndrome" EXACT [OMIM:608615] +xref: GARD:17376 {source="Orphanet:300576"} xref: MESH:C563898 {source="MONDO:equivalentTo"} xref: OMIM:608615 {source="Orphanet:300576", source="MONDO:equivalentTo", source="Orphanet:300576/e"} xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"} @@ -239448,13 +244942,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012077 name: amyotrophic lateral sclerosis type 8 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010499"} +subset: gard_rare {source="GARD:10499"} synonym: "ALS8" EXACT ABBREVIATION [DOID:0050752, MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis 8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis caused by mutation in VAPB" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 8" EXACT [MONDORULE:1, OMIM:608627] synonym: "VAPB amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050752 {source="MONDO:equivalentTo"} +xref: GARD:10499 {source="OMIM:608627"} xref: MESH:C563895 {source="MONDO:equivalentTo"} xref: OMIM:608627 {source="DOID:0050752", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:608627"} @@ -239470,12 +244965,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10499/amyotr id: MONDO:0012078 name: Joubert syndrome 3 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15435"} synonym: "AHI1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS3" EXACT ABBREVIATION [DOID:0110998, MONDO:Lexical, OMIM:608629] synonym: "Joubert syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608629] synonym: "Joubert syndrome caused by mutation in AHI1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 3" EXACT [DOID:0110998, MONDORULE:1, OMIM:608629] xref: DOID:0110998 {source="MONDO:equivalentTo"} +xref: GARD:15435 {source="OMIM:608629"} xref: MESH:C536295 {source="MONDO:equivalentTo"} xref: NCIT:C148259 {source="MONDO:equivalentTo"} xref: OMIM:608629 {source="DOID:0110998", source="MONDO:equivalentTo"} @@ -239509,6 +245006,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012080 name: neuronopathy, distal hereditary motor, type 2B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18263"} synonym: "HMN 2B" RELATED [OMIM:608634] synonym: "HMN2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608634] synonym: "HSPB1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -239516,6 +245014,7 @@ synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB1" EXA synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical, OMIM:608634] synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [OMIM:608634] xref: DOID:0111207 {source="MONDO:equivalentTo"} +xref: GARD:18263 {source="OMIM:608634"} xref: MESH:C567084 {source="MONDO:equivalentTo"} xref: OMIM:608634 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="OMIM:608634"} @@ -239531,6 +245030,7 @@ property_value: confidence "0.519607843137255" xsd:double id: MONDO:0012081 name: 15q11q13 microduplication syndrome def: "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." [Orphanet:238446] +subset: gard_rare {source="GARD:17172"} subset: ordo_malformation_syndrome {source="Orphanet:238446"} subset: predisposition synonym: "15q11-q13 duplication syndrome" EXACT [Orphanet:238446] @@ -239544,6 +245044,7 @@ synonym: "dup(15)(q11q13)" EXACT [Orphanet:238446] synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636] synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446] synonym: "trisomy 15q11q13" EXACT [Orphanet:238446] +xref: GARD:17172 {source="Orphanet:238446"} xref: NCIT:C126692 {source="MONDO:equivalentTo"} xref: OMIM:608636 {source="Orphanet:238446", source="MONDO:equivalentTo", source="Orphanet:238446/e"} xref: Orphanet:106 {source="OMIM:608636"} @@ -239584,6 +245085,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012083 name: autosomal dominant nonsyndromic hearing loss 28 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18124"} synonym: "autosomal dominant deafness 28" NARROW [DOID:0110557] synonym: "autosomal dominant nonsyndromic deafness 28" NARROW [OMIM:608641] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" NARROW [MONDO:design_pattern] @@ -239593,6 +245095,7 @@ synonym: "deafness, autosomal dominant type 28" NARROW [MONDORULE:2, OMIM:608641 synonym: "DFNA28" NARROW ABBREVIATION [DOID:0110557, MONDO:Lexical, OMIM:608641] synonym: "GRHL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110557 {source="MONDO:equivalentTo"} +xref: GARD:18124 {source="OMIM:608641"} xref: ICD10CM:H90.3 {source="DOID:0110557"} xref: MESH:C563890 {source="MONDO:equivalentTo"} xref: OMIM:608641 {source="DOID:0110557", source="MONDO:equivalentTo"} @@ -239609,7 +245112,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012084 name: aromatic L-amino acid decarboxylase deficiency def: "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." [Orphanet:35708] -subset: gard_rare {source="GARD:0000770"} +subset: gard_rare {source="GARD:770"} subset: ordo_disease {source="Orphanet:35708"} synonym: "AADC deficiency" EXACT [DOID:0090123, Orphanet:35708] synonym: "Aadc deficiency" RELATED [OMIM:608643] @@ -239619,6 +245122,7 @@ synonym: "aromatic L-amino-acid decarboxylase deficiency" EXACT [NCIT:C142085] synonym: "DDC deficiency" RELATED [OMIM:608643] synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643] xref: DOID:0090123 {source="MONDO:equivalentTo"} +xref: GARD:770 {source="Orphanet:35708"} xref: ICD10CM:G24.8 {source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/attributed", source="Orphanet:35708/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537437 {source="MONDO:equivalentTo"} @@ -239637,6 +245141,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/770/aromatic id: MONDO:0012085 name: primary ciliary dyskinesia 3 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15436"} synonym: "CILD3" EXACT ABBREVIATION [DOID:0110599, MONDO:Lexical, OMIM:608644] synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical, OMIM:608644] synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [OMIM:608644] @@ -239647,6 +245152,7 @@ synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [DO synonym: "primary ciliary dyskinesia caused by mutation in DNAH5" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 3" EXACT [DOID:0110599, MONDORULE:1] xref: DOID:0110599 {source="MONDO:equivalentTo"} +xref: GARD:15436 {source="OMIM:608644"} xref: ICD10CM:Q34.8 {source="DOID:0110599"} xref: MESH:C535278 {source="MONDO:equivalentTo"} xref: NCIT:C172392 {source="MONDO:equivalentTo"} @@ -239661,12 +245167,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012086 name: autosomal dominant nonsyndromic hearing loss 31 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." [DOID:0110561, PMID:11559344] +subset: gard_rare {source="GARD:18125"} synonym: "autosomal dominant deafness 31" NARROW [DOID:0110561] synonym: "autosomal dominant nonsyndromic deafness 31" NARROW [OMIM:608645] synonym: "autosomal dominant nonsyndromic deafness type 31" NARROW [DOID:0110561, MONDORULE:2] synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical, OMIM:608645, OMIM:genemap2] synonym: "DFNA31" NARROW ABBREVIATION [DOID:0110561, MONDO:Lexical, OMIM:608645] xref: DOID:0110561 {source="MONDO:equivalentTo"} +xref: GARD:18125 {source="OMIM:608645"} xref: ICD10CM:H90.3 {source="DOID:0110561"} xref: MESH:C563888 {source="MONDO:equivalentTo"} xref: OMIM:608645 {source="MONDO:equivalentTo", source="DOID:0110561"} @@ -239679,12 +245187,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012087 name: primary ciliary dyskinesia 4 def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." [DOID:0110614, PMID:14985390] +subset: gard_rare {source="GARD:15437"} synonym: "CILD4" EXACT ABBREVIATION [DOID:0110614, MONDO:Lexical, OMIM:608646] synonym: "ciliary dyskinesia, primary, 4" RELATED [MONDO:Lexical, OMIM:608646] synonym: "ciliary dyskinesia, primary, 4, with or without situs inversus" RELATED [OMIM:608646] synonym: "primary ciliary dyskinesia 4 with or without situs inversus" EXACT [DOID:0110614] synonym: "primary ciliary dyskinesia type 4" EXACT [DOID:0110614, MONDORULE:1] xref: DOID:0110614 {source="MONDO:equivalentTo"} +xref: GARD:15437 {source="OMIM:608646"} xref: ICD10CM:Q34.8 {source="DOID:0110614"} xref: MESH:C535279 {source="MONDO:equivalentTo"} xref: OMIM:608646 {source="DOID:0110614", source="MONDO:equivalentTo"} @@ -239695,6 +245205,7 @@ is_a: MONDO:0016575 {source="DC-OMIM:608646", source="DOID:0110614", source="MES id: MONDO:0012088 name: primary ciliary dyskinesia 5 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15438"} synonym: "CILD5" EXACT ABBREVIATION [DOID:0110617, MONDO:Lexical, OMIM:608647] synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647] synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647] @@ -239704,6 +245215,7 @@ synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:01106 synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1] xref: DOID:0110617 {source="MONDO:equivalentTo"} +xref: GARD:15438 {source="OMIM:608647"} xref: ICD10CM:Q34.8 {source="DOID:0110617"} xref: MESH:C563886 {source="MONDO:equivalentTo"} xref: OMIM:608647 {source="DOID:0110617", source="MONDO:equivalentTo"} @@ -239717,7 +245229,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012089 name: ichthyosis prematurity syndrome def: "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." [Orphanet:88621] -subset: gard_rare {source="GARD:0009886"} +subset: gard_rare {source="GARD:9886"} subset: ordo_disease {source="Orphanet:88621"} synonym: "congenital ichthyosis type 4" EXACT [Orphanet:88621] synonym: "ichthyosis congenita 4" RELATED [OMIM:608649] @@ -239726,6 +245238,7 @@ synonym: "ichthyosis prematurity syndrome" EXACT [MONDO:Lexical, OMIM:608649] synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621] synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590] synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608649, Orphanet:88621] +xref: GARD:9886 {source="Orphanet:88621"} xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} xref: NCIT:C62590 {source="MONDO:equivalentTo"} xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} @@ -239748,12 +245261,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9886/ichthyo id: MONDO:0012090 name: autosomal dominant nonsyndromic hearing loss 47 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." [DOID:0110570, PMID:12634859] +subset: gard_rare {source="GARD:18126"} synonym: "autosomal dominant deafness 47" NARROW [DOID:0110570] synonym: "autosomal dominant nonsyndromic deafness 47" NARROW [OMIM:608652] synonym: "autosomal dominant nonsyndromic deafness type 47" NARROW [DOID:0110570, MONDORULE:2] synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical, OMIM:608652, OMIM:genemap2] synonym: "DFNA47" NARROW ABBREVIATION [DOID:0110570, MONDO:Lexical, OMIM:608652] xref: DOID:0110570 {source="MONDO:equivalentTo"} +xref: GARD:18126 {source="OMIM:608652"} xref: ICD10CM:H90.3 {source="DOID:0110570"} xref: MESH:C563885 {source="MONDO:equivalentTo"} xref: OMIM:608652 {source="MONDO:equivalentTo", source="DOID:0110570"} @@ -239767,6 +245282,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012091 name: autosomal recessive nonsyndromic hearing loss 32 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3." [DOID:0110491, PMID:12634867] +subset: gard_rare {source="GARD:22610"} synonym: "autosomal recessive deafness 105" NARROW [DOID:0110466] synonym: "autosomal recessive deafness 32" NARROW [DOID:0110491] synonym: "autosomal recessive nonsyndromic deafness 105" NARROW [MONDO:0014849] @@ -239783,6 +245299,7 @@ synonym: "DFNB105" NARROW ABBREVIATION [DOID:0110466, OMIM:616958] synonym: "DFNB32" NARROW ABBREVIATION [DOID:0110491, MONDO:Lexical, OMIM:608653] xref: DOID:0110466 {source="MONDO:equivalentObsolete"} xref: DOID:0110491 {source="MONDO:equivalentTo"} +xref: GARD:22610 {source="OMIM:608653"} xref: ICD10CM:H90.3 {source="DOID:0110491", source="DOID:0110466"} xref: MESH:C563884 {source="MONDO:equivalentTo"} xref: OMIM:608653 {source="DOID:0110491", source="MONDO:equivalentTo"} @@ -239799,6 +245316,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012092 name: hereditary sensory and autonomic neuropathy type 5 def: "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." [Orphanet:64752] +subset: gard_rare {source="GARD:12328"} subset: ordo_disease {source="Orphanet:64752"} synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern] synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752] @@ -239811,6 +245329,7 @@ synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:60 synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654] synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070145 {source="MONDO:equivalentTo"} +xref: GARD:12328 {source="Orphanet:64752"} xref: ICD10CM:G60.8 {source="Orphanet:64752/attributed", source="Orphanet:64752/ntbt", source="Orphanet:64752"} xref: MESH:D000699 {source="Orphanet:64752", source="Orphanet:64752/e"} xref: NCIT:C125386 {source="DOID:0070145"} @@ -239830,10 +245349,12 @@ property_value: confidence "0.7993530796457187" xsd:double [Term] id: MONDO:0012093 name: prostate cancer, hereditary, 3 +subset: gard_rare {source="GARD:15439"} synonym: "HPC3" RELATED ABBREVIATION [OMIM:608656] synonym: "prostate cancer, hereditary, 3" EXACT [OMIM:608656] synonym: "prostate cancer, hereditary, type 3" EXACT [MONDORULE:1, OMIM:608656] synonym: "prostate cancer, susceptibility to, 3" EXACT [OMIM:608656, OMIM:genemap2] +xref: GARD:15439 {source="OMIM:608656"} xref: MESH:C563883 {source="MONDO:equivalentTo"} xref: OMIM:608656 {source="MONDO:equivalentTo"} xref: UMLS:C1837595 {source="OMIM:608656", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -239845,11 +245366,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012094 name: prostate cancer, hereditary, 4 +subset: gard_rare {source="GARD:15440"} synonym: "HPC4" RELATED ABBREVIATION [OMIM:608658] synonym: "prostate cancer, hereditary, 4" EXACT [OMIM:608658] synonym: "prostate cancer, hereditary, on chromosome 7" RELATED [OMIM:608658] synonym: "prostate cancer, hereditary, type 4" EXACT [MONDORULE:1, OMIM:608658] synonym: "prostate cancer, susceptibility to, 4" EXACT [OMIM:608658, OMIM:genemap2] +xref: GARD:15440 {source="OMIM:608658"} xref: MESH:C563882 {source="MONDO:equivalentTo"} xref: OMIM:608658 {source="MONDO:equivalentTo"} xref: UMLS:C1837593 {source="OMIM:608658", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -239862,8 +245385,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012095 name: intellectual disability-brachydactyly-Pierre Robin syndrome def: "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." [Orphanet:364577] +subset: gard_rare {source="GARD:17583"} subset: ordo_malformation_syndrome {source="Orphanet:364577"} synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670] +xref: GARD:17583 {source="Orphanet:364577"} xref: ICD10CM:Q87.0 {source="Orphanet:364577", source="Orphanet:364577/attributed", source="Orphanet:364577/ntbt"} xref: MESH:C563880 {source="MONDO:equivalentTo"} xref: OMIM:608670 {source="MONDO:equivalentTo", source="Orphanet:364577", source="Orphanet:364577/e"} @@ -239885,6 +245410,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012096 name: Charcot-Marie-Tooth disease axonal type 2L def: "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." [Orphanet:99945] +subset: gard_rare {source="GARD:12432"} subset: ordo_disease {source="Orphanet:99945"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] @@ -239897,6 +245423,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673] synonym: "CMT2L" EXACT ABBREVIATION [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945] synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110174 {source="MONDO:equivalentTo"} +xref: GARD:12432 {source="Orphanet:99945"} xref: ICD10CM:G60.0 {source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/attributed", source="Orphanet:99945/ntbt"} xref: OMIM:608673 {source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/e"} xref: Orphanet:99945 {source="MONDO:equivalentTo", source="DOID:0110174", source="OMIM:608673"} @@ -239914,10 +245441,12 @@ property_value: confidence "15.666666666666679" xsd:double [Term] id: MONDO:0012097 name: spondylocostal dysostosis 2, autosomal recessive +subset: gard_rare {source="GARD:9703"} synonym: "SCDO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608681] synonym: "spondylocostal dysostosis 2" RELATED [GARD:0009703] synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608681] xref: DOID:0112362 {source="MONDO:equivalentTo"} +xref: GARD:9703 {source="OMIM:608681"} xref: OMIM:608681 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="OMIM:608681"} xref: UMLS:C1837549 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608681"} @@ -239932,6 +245461,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012098 name: spinocerebellar ataxia type 20 def: "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation." [Orphanet:101110] +subset: gard_rare {source="GARD:9997"} subset: ordo_disease {source="Orphanet:101110"} synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [OMIM:608687] synonym: "SCA20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608687, Orphanet:101110] @@ -239940,6 +245470,7 @@ synonym: "spinocerebellar ataxia type 20" EXACT [MONDORULE:2, OMIM:608687] synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687] synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687] xref: DOID:0050971 {source="MONDO:equivalentTo"} +xref: GARD:9997 {source="Orphanet:101110"} xref: ICD10CM:G11.2 {source="Orphanet:101110", source="Orphanet:101110/attributed", source="Orphanet:101110/ntbt"} xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="Orphanet:101110/e"} @@ -239953,6 +245484,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012099 name: AICA-ribosiduria def: "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." [Orphanet:250977] +subset: gard_rare {source="GARD:13781"} subset: ordo_disease {source="Orphanet:250977"} synonym: "5-amino-4-imidazole carboxamide ribosiduria" EXACT [Orphanet:250977] synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [OMIM:608688, OMIM:genemap2] @@ -239960,6 +245492,7 @@ synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688] synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688] synonym: "ATIC deficiency" EXACT [Orphanet:250977] synonym: "Atic deficiency" RELATED [OMIM:608688] +xref: GARD:13781 {source="Orphanet:250977"} xref: ICD10CM:E79.8 {source="Orphanet:250977/attributed", source="Orphanet:250977/ntbt", source="Orphanet:250977"} xref: MESH:C563876 {source="MONDO:equivalentTo"} xref: OMIM:608688 {source="Orphanet:250977/e", source="MONDO:equivalentTo", source="Orphanet:250977"} @@ -239997,11 +245530,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012101 name: glaucoma 1, open angle, J +subset: gard_rare {source="GARD:18228"} synonym: "glaucoma 1, open angle, J" EXACT [MONDO:Lexical, OMIM:608695] synonym: "glaucoma, primary open angle, juvenile-onset, 2" RELATED [OMIM:608695] synonym: "GLC1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608695] synonym: "JOAG1J" EXACT ABBREVIATION [] synonym: "JOAG2" EXACT ABBREVIATION [] +xref: GARD:18228 {source="OMIM:608695"} xref: MESH:C563874 {source="MONDO:equivalentTo"} xref: OMIM:608695 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="OMIM:608695"} @@ -240012,11 +245547,13 @@ property_value: confidence "0.6519518666964457" xsd:double [Term] id: MONDO:0012102 name: glaucoma 1, open angle, K +subset: gard_rare {source="GARD:18229"} synonym: "glaucoma 1, open angle, K" EXACT [MONDO:Lexical, OMIM:608696] synonym: "glaucoma 1K, primary open angle, juvenile-onset" EXACT [OMIM:608696, OMIM:genemap2] synonym: "glaucoma, primary open angle, juvenile-onset, 3" RELATED [OMIM:608696] synonym: "GLC1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608696] synonym: "JOAG1K" EXACT ABBREVIATION [] +xref: GARD:18229 {source="OMIM:608696"} xref: MESH:C563873 {source="MONDO:equivalentTo"} xref: OMIM:608696 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="OMIM:608696"} @@ -240029,10 +245566,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012103 name: spinocerebellar ataxia type 25 def: "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." [Orphanet:101111] +subset: gard_rare {source="GARD:9996"} subset: ordo_disease {source="Orphanet:101111"} synonym: "SCA25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608703, Orphanet:101111] synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703] xref: DOID:0050974 {source="MONDO:equivalentTo"} +xref: GARD:9996 {source="Orphanet:101111"} xref: ICD10CM:G11.8 {source="Orphanet:101111", source="Orphanet:101111/attributed", source="Orphanet:101111/ntbt"} xref: MESH:C537202 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e"} xref: OMIM:608703 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="DOID:0050974"} @@ -240046,6 +245585,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0012104 name: acquired partial lipodystrophy def: "A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." [Orphanet:79087] +subset: gard_rare {source="GARD:10509"} subset: ordo_disease {source="Orphanet:79087"} synonym: "acquired partial lipodystrophy" EXACT [MONDO:patterns/acquired] synonym: "APLD" EXACT ABBREVIATION [MONDO:Lexical] @@ -240060,6 +245600,7 @@ synonym: "lipodystrophy, partial, progressive" RELATED [OMIM:608709] synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723] synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087] synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709] +xref: GARD:10509 {source="Orphanet:79087"} xref: ICD10CM:E88.1 {source="Orphanet:79087", source="Orphanet:79087/ntbt"} xref: MESH:C562448 {source="MONDO:equivalentTo"} xref: NCIT:C129723 {source="MONDO:equivalentTo"} @@ -240079,6 +245620,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012105 name: granulomatosis with polyangiitis def: "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." [Orphanet:900] +subset: gard_rare {source="GARD:7880"} subset: ordo_disease {source="Orphanet:900"} synonym: "ANCA-associated vasculitis" BROAD [PMID:16887845, PMID:28148583] synonym: "GPA" EXACT ABBREVIATION [Orphanet:900] @@ -240093,6 +245635,7 @@ synonym: "Wegener's syndrome" EXACT [DOID:12132] synonym: "Wg" BROAD DEPRECATED [OMIM:608710] xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"} xref: EFO:0005297 {source="MONDO:equivalentTo"} +xref: GARD:7880 {source="Orphanet:900"} xref: ICD10CM:M31.3 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: ICD10CM:M31.30 {source="DOID:12132"} xref: ICD9:446.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12132", source="EFO:0005297"} @@ -240126,11 +245669,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012106 name: microcephaly 5, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15441"} synonym: "ASPM autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive primary microcephaly caused by mutation in ASPM" EXACT [MONDO:design_pattern] synonym: "MCPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608716] synonym: "microcephaly 5, primary, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608716] xref: DOID:0070280 {source="MONDO:equivalentTo"} +xref: GARD:15441 {source="OMIM:608716"} xref: MESH:C563871 {source="MONDO:equivalentTo"} xref: OMIM:608716 {source="MONDO:equivalentTo"} xref: UMLS:C1837501 {source="OMIM:608716", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -240153,6 +245698,7 @@ is_a: MONDO:0003847 {source="MESH:C563870/inferred"} ! hereditary disease id: MONDO:0012108 name: spondyloepimetaphyseal dysplasia, matrilin-3 type def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:156728] +subset: gard_rare {source="GARD:10611"} subset: ordo_disease {source="Orphanet:156728"} synonym: "SEMD MATN3-related" RELATED [GARD:0010611] synonym: "SEMD, MATN3-related" EXACT [OMIM:608728, Orphanet:156728] @@ -240161,6 +245707,7 @@ synonym: "spondyloepimetaphyseal dysplasia matrilin-3 related" RELATED [GARD:001 synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:0010611] synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728] +xref: GARD:10611 {source="Orphanet:156728"} xref: ICD10CM:Q77.7 {source="Orphanet:156728/attributed", source="Orphanet:156728/ntbt", source="Orphanet:156728"} xref: MESH:C563869 {source="MONDO:equivalentTo"} xref: OMIM:608728 {source="Orphanet:156728/e", source="MONDO:equivalentTo", source="Orphanet:156728"} @@ -240194,6 +245741,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012110 name: growth delay due to insulin-like growth factor type 1 deficiency def: "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." [Orphanet:73272] +subset: gard_rare {source="GARD:10627"} subset: ordo_disease {source="Orphanet:73272"} synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [Orphanet:73272] synonym: "growth retardation with deafness and mental retardation due to IGF1 deficiency" EXACT [OMIM:608747, OMIM:genemap2] @@ -240204,6 +245752,7 @@ synonym: "IGF1 deficiency" RELATED [OMIM:608747] synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747] synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747] synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272] +xref: GARD:10627 {source="Orphanet:73272"} xref: ICD10CM:E34.3 {source="Orphanet:73272/attributed", source="Orphanet:73272/ntbt", source="Orphanet:73272"} xref: MESH:C563867 {source="MONDO:equivalentTo"} xref: OMIM:608747 {source="Orphanet:73272/e", source="MONDO:equivalentTo", source="Orphanet:73272"} @@ -240310,11 +245859,13 @@ relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis id: MONDO:0012116 name: spinocerebellar ataxia type 8 def: "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." [Orphanet:98760] +subset: gard_rare {source="GARD:4956"} subset: ordo_disease {source="Orphanet:98760"} synonym: "SCA8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608768, Orphanet:98760] synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768] synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768] xref: DOID:0050959 {source="MONDO:equivalentTo"} +xref: GARD:4956 {source="Orphanet:98760"} xref: ICD10CM:G11.2 {source="Orphanet:98760/attributed", source="Orphanet:98760/ntbt", source="Orphanet:98760"} xref: MESH:C537307 {source="Orphanet:98760/e", source="Orphanet:98760"} xref: OMIM:608768 {source="Orphanet:98760/e", source="MONDO:equivalentTo", source="DOID:0050959", source="Orphanet:98760"} @@ -240329,6 +245880,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012117 name: ALG9-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." [Orphanet:79328] +subset: gard_rare {source="GARD:9839"} subset: ordo_disease {source="Orphanet:79328"} synonym: "ALG9-CDG" EXACT ABBREVIATION [Orphanet:79328] synonym: "ALG9-CDG (CDG-IL)" RELATED [GARD:0009839] @@ -240345,6 +245897,7 @@ synonym: "congenital disorder of glycosylation type IL" RELATED [GARD:0009839] synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, OMIM:608776] synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328] xref: DOID:0080564 {source="MONDO:equivalentTo"} +xref: GARD:9839 {source="Orphanet:79328"} xref: ICD10CM:E77.8 {source="Orphanet:79328", source="Orphanet:79328/attributed", source="Orphanet:79328/ntbt"} xref: MESH:C535750 {source="MONDO:equivalentTo"} xref: OMIM:608776 {source="Orphanet:79328", source="MONDO:equivalentTo", source="Orphanet:79328/e"} @@ -240365,6 +245918,7 @@ property_value: confidence "0.14285714285714302" xsd:double id: MONDO:0012118 name: COG7-congenital disorder of glycosylation def: "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." [Orphanet:79333] +subset: gard_rare {source="GARD:9842"} subset: ordo_disease {source="Orphanet:79333"} synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333] synonym: "CDG 2E" RELATED [GARD:0009842] @@ -240379,6 +245933,7 @@ synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779] xref: DOID:0070257 {source="MONDO:preferredExternal"} +xref: GARD:9842 {source="Orphanet:79333"} xref: ICD10CM:E77.8 {source="Orphanet:79333/attributed", source="Orphanet:79333/ntbt", source="Orphanet:79333"} xref: MESH:C535754 {source="MONDO:equivalentTo"} xref: OMIM:608779 {source="Orphanet:79333/e", source="MONDO:equivalentTo", source="Orphanet:79333"} @@ -240419,12 +245974,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012120 name: pyruvate dehydrogenase phosphatase deficiency def: "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." [Orphanet:79246] -subset: gard_rare {source="GARD:0009888"} +subset: gard_rare {source="GARD:9888"} subset: ordo_clinical_subtype {source="Orphanet:79246"} synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [OMIM:608782] synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246] synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782] synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608782] +xref: GARD:9888 {source="Orphanet:79246"} xref: ICD10CM:E74.4 {source="Orphanet:79246/attributed", source="Orphanet:79246/ntbt", source="Orphanet:79246"} xref: MESH:C536258 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: OMIM:608782 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} @@ -240451,8 +246007,10 @@ is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMI [Term] id: MONDO:0012122 name: moyamoya disease 3 +subset: gard_rare {source="GARD:15442"} synonym: "Moyamoya disease 3" RELATED [MONDO:Lexical, OMIM:608796] synonym: "MYMY3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608796] +xref: GARD:15442 {source="OMIM:608796"} xref: MESH:C536993 {source="MONDO:equivalentTo"} xref: OMIM:608796 {source="MONDO:equivalentTo"} xref: Orphanet:2573 {source="OMIM:608796"} @@ -240464,6 +246022,7 @@ property_value: confidence "1.0943562610229276" xsd:double id: MONDO:0012123 name: congenital disorder of glycosylation type 1E def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." [Orphanet:79322] +subset: gard_rare {source="GARD:9831"} subset: ordo_disease {source="Orphanet:79322"} synonym: "carbohydrate deficient glycoprotein syndrome type Ie" EXACT [Orphanet:79322] synonym: "carbohydrate-deficient glycoprotein syndrome type 1E" RELATED [GARD:0009831] @@ -240483,6 +246042,7 @@ synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern synonym: "DPM1-CDG" RELATED [Orphanet:79322] synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831] xref: DOID:0080557 {source="MONDO:equivalentTo"} +xref: GARD:9831 {source="Orphanet:79322"} xref: ICD10CM:E77.8 {source="Orphanet:79322/attributed", source="Orphanet:79322/ntbt", source="Orphanet:79322"} xref: MESH:C535743 {source="MONDO:equivalentTo"} xref: NCIT:C126871 {source="MONDO:equivalentTo"} @@ -240503,10 +246063,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012124 name: sudden infant death-dysgenesis of the testes syndrome def: "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." [Orphanet:168593] +subset: gard_rare {source="GARD:12382"} subset: ordo_malformation_syndrome {source="Orphanet:168593"} synonym: "SIDDT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608800, Orphanet:168593] synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382] synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800] +xref: GARD:12382 {source="Orphanet:168593"} xref: ICD10CM:G90.8 {source="Orphanet:168593/attributed", source="Orphanet:168593/ntbt", source="Orphanet:168593"} xref: MESH:C563856 {source="MONDO:equivalentTo"} xref: OMIM:608800 {source="Orphanet:168593/e", source="MONDO:equivalentTo", source="Orphanet:168593"} @@ -240522,6 +246084,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0012125 name: hypomyelinating leukodystrophy 2 def: "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17293"} subset: ordo_clinical_subtype {source="Orphanet:280282"} synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD2" EXACT ABBREVIATION [DOID:0060787, MONDO:Lexical, OMIM:608804] @@ -240534,6 +246097,7 @@ synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:00 synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804] synonym: "PMLD1" EXACT ABBREVIATION [DOID:0060787, Orphanet:280282] xref: DOID:0060787 {source="MONDO:equivalentTo"} +xref: GARD:17293 {source="Orphanet:280282"} xref: ICD10CM:E75.2 {source="Orphanet:280282/attributed", source="Orphanet:280282/ntbt", source="Orphanet:280282", source="DOID:0060787"} xref: MESH:C563855 {source="MONDO:equivalentTo"} xref: OMIM:608804 {source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo", source="Orphanet:280282/e"} @@ -240551,7 +246115,7 @@ property_value: confidence "4.714285714285717" xsd:double id: MONDO:0012126 name: familial avascular necrosis of femoral head def: "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." [Orphanet:86820] -subset: gard_rare {source="GARD:0010914"} +subset: gard_rare {source="GARD:10914"} subset: ordo_disease {source="Orphanet:86820"} subset: prototype_pattern synonym: "ANFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608805] @@ -240569,6 +246133,7 @@ synonym: "ischaemic Necrosis of femoral head" RELATED OMO:0003005 [] synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805] synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] +xref: GARD:10914 {source="Orphanet:86820"} xref: ICD10CM:M87.8 {source="Orphanet:86820/attributed", source="Orphanet:86820/ntbt", source="Orphanet:86820"} xref: MESH:D005271 {source="MONDO:equivalentTo"} xref: NCIT:C35480 {source="MONDO:equivalentTo"} @@ -240590,6 +246155,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10914/famili id: MONDO:0012127 name: autosomal recessive limb-girdle muscular dystrophy type 2J def: "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." [Orphanet:140922] +subset: gard_rare {source="GARD:12534"} subset: ordo_disease {source="Orphanet:140922"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "LGMD2J" EXACT ABBREVIATION [DOID:0110283, MONDO:Lexical, OMIM:608807, Orphanet:140922] @@ -240598,6 +246164,7 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [OMIM:6 synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807] synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110283 {source="MONDO:equivalentTo"} +xref: GARD:12534 {source="Orphanet:140922"} xref: ICD10CM:G71.0 {source="Orphanet:140922/attributed", source="Orphanet:140922/ntbt", source="DOID:0110283", source="Orphanet:140922"} xref: MESH:C563854 {source="MONDO:equivalentTo"} xref: OMIM:608807 {source="Orphanet:140922/e", source="MONDO:equivalentTo", source="DOID:0110283", source="Orphanet:140922"} @@ -240640,7 +246207,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012129 name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema -subset: gard_rare {source="GARD:0010065"} synonym: "LACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608809] synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" EXACT [MONDO:Lexical, OMIM:608809] xref: MESH:C563852 {source="MONDO:equivalentTo"} @@ -240653,6 +246219,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10065/leukoe id: MONDO:0012130 name: myofibrillar myopathy 2 def: "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17651"} subset: ordo_disease {source="Orphanet:399058"} synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058] synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093] @@ -240667,6 +246234,7 @@ synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:6088 synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810] synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810] xref: DOID:0080093 {source="MONDO:equivalentTo"} +xref: GARD:17651 {source="Orphanet:399058"} xref: ICD10CM:G71.0 {source="Orphanet:399058/attributed", source="Orphanet:399058/ntbt", source="Orphanet:399058"} xref: MESH:C563848 {source="MONDO:equivalentTo"} xref: OMIM:608810 {source="Orphanet:399058", source="MONDO:equivalentTo", source="Orphanet:399058/e", source="DOID:0080093"} @@ -240683,9 +246251,10 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0012131 name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth -subset: gard_rare {source="GARD:0010066"} +subset: gard_rare {source="GARD:10066"} synonym: "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" EXACT [OMIM:608811] synonym: "overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome" EXACT [Orphanet:498485] +xref: GARD:10066 {source="Orphanet:498485"} xref: MESH:C537355 {source="MONDO:equivalentTo"} xref: OMIM:608811 {source="MONDO:equivalentTo"} xref: Orphanet:498485 {source="MONDO:equivalentTo"} @@ -240720,7 +246289,6 @@ property_value: confidence "0.888162672476398" xsd:double [Term] id: MONDO:0012133 name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities -subset: gard_rare {source="GARD:0010067"} synonym: "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" EXACT [OMIM:608814] xref: MESH:C537879 {source="MONDO:equivalentTo"} xref: OMIM:608814 {source="MONDO:equivalentTo"} @@ -240731,11 +246299,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10067/latera [Term] id: MONDO:0012134 name: myoclonic epilepsy, juvenile, susceptibility to, 3 +subset: gard_rare {source="GARD:15443"} subset: predisposition synonym: "EJM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608816] synonym: "epilepsy, juvenile myoclonic 3" EXACT [OMIM:608816, OMIM:genemap2] synonym: "myoclonic epilepsy, juvenile, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608816] xref: DOID:0111326 {source="MONDO:equivalentTo"} +xref: GARD:15443 {source="OMIM:608816"} xref: OMIM:608816 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:608816"} xref: UMLS:C1837308 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608816"} @@ -240764,6 +246334,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012136 name: carnitine palmitoyl transferase II deficiency, neonatal form def: "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." [Orphanet:228308] +subset: gard_rare {source="GARD:17151"} subset: ordo_clinical_subtype {source="Orphanet:228308"} synonym: "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" EXACT [Orphanet:228308] synonym: "Carnitine palmitoyl transferase deficiency type 2, neonatal form" EXACT [Orphanet:228308] @@ -240780,6 +246351,7 @@ synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPT2, neonatal form" EXACT [Orphanet:228308] synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPTII, neonatal form" EXACT [Orphanet:228308] +xref: GARD:17151 {source="Orphanet:228308"} xref: ICD10CM:E71.3 {source="Orphanet:228308/attributed", source="Orphanet:228308/ntbt", source="Orphanet:228308"} xref: MESH:C563463 {source="MONDO:equivalentTo"} xref: OMIM:608836 {source="Orphanet:228308", source="MONDO:equivalentTo", source="Orphanet:228308/e"} @@ -240795,9 +246367,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012137 name: Carney complex - trismus - pseudocamptodactyly syndrome def: "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." [Orphanet:319340] +subset: gard_rare {source="GARD:17448"} subset: ordo_disease {source="Orphanet:319340"} synonym: "CARNEY complex variant" RELATED [OMIM:608837] synonym: "Carney complex variant" EXACT [Orphanet:319340] +xref: GARD:17448 {source="Orphanet:319340"} xref: ICD10CM:Q68.8 {source="Orphanet:319340", source="Orphanet:319340/attributed", source="Orphanet:319340/ntbt"} xref: OMIM:608837 {source="MONDO:equivalentTo", source="Orphanet:319340", source="Orphanet:319340/e"} xref: Orphanet:319340 {source="OMIM:608837", source="MONDO:equivalentTo"} @@ -240856,6 +246430,7 @@ is_obsolete: true id: MONDO:0012141 name: orofacial cleft 6, susceptibility to def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18304"} subset: predisposition synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864] synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -240865,6 +246440,7 @@ synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:60886 synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern] synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864] xref: DOID:0080593 {source="MONDO:equivalentTo"} +xref: GARD:18304 {source="OMIM:608864"} xref: OMIM:608864 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:608864"} xref: UMLS:C1837213 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608864"} @@ -240879,6 +246455,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012142 name: orofacial cleft 5 def: "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18305"} synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874] synonym: "MSX1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OFC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608874] @@ -240886,6 +246463,7 @@ synonym: "orofacial cleft 5" EXACT [MONDO:Lexical, OMIM:608874] synonym: "orofacial cleft caused by mutation in MSX1" EXACT [MONDO:design_pattern] synonym: "orofacial cleft type 5" EXACT [MONDORULE:1, OMIM:608874] xref: DOID:0080399 {source="MONDO:equivalentTo"} +xref: GARD:18305 {source="OMIM:608874"} xref: MESH:C563843 {source="MONDO:equivalentTo"} xref: OMIM:608874 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:608874"} @@ -240903,6 +246481,7 @@ property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0012143 name: hereditary cryohydrocytosis with reduced stomatin +subset: gard_rare {source="GARD:17036"} subset: ordo_disease {source="Orphanet:168577"} synonym: "ChC type 2" EXACT [Orphanet:168577] synonym: "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly" RELATED [OMIM:608885] @@ -240913,6 +246492,7 @@ synonym: "sdCHC" EXACT [Orphanet:168577] synonym: "SDCHCN" RELATED ABBREVIATION [OMIM:608885] synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577] synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885] +xref: GARD:17036 {source="Orphanet:168577"} xref: ICD10CM:D58.8 {source="Orphanet:168577/attributed", source="Orphanet:168577/ntbt", source="Orphanet:168577"} xref: MESH:C563840 {source="MONDO:equivalentTo"} xref: OMIM:608885 {source="Orphanet:168577", source="MONDO:equivalentTo", source="Orphanet:168577/e"} @@ -240931,12 +246511,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012144 name: Waardenburg syndrome type 2D def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15444"} synonym: "SNAI2 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome type 2 caused by mutation in SNAI2" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type IID" EXACT [DOID:0110952] synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical, OMIM:608890] synonym: "WS2D" EXACT ABBREVIATION [DOID:0110952, MONDO:Lexical, OMIM:608890] xref: DOID:0110952 {source="MONDO:equivalentTo"} +xref: GARD:15444 {source="OMIM:608890"} xref: MESH:C563839 {source="MONDO:equivalentTo"} xref: OMIM:608890 {source="DOID:0110952", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:608890"} @@ -240975,7 +246557,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0012146 name: familial hemophagocytic lymphohistiocytosis 3 def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009928"} +subset: gard_rare {source="GARD:9928"} synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [DOID:0110923, MONDORULE:1] synonym: "FHL3" EXACT ABBREVIATION [DOID:0110923, MONDO:Lexical, OMIM:608898] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D" EXACT [MONDO:design_pattern] @@ -240987,6 +246569,7 @@ synonym: "HPLH3" EXACT ABBREVIATION [DOID:0110923] synonym: "Hplh3" RELATED [OMIM:608898] synonym: "UNC13D genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110923 {source="MONDO:equivalentTo"} +xref: GARD:9928 {source="OMIM:608898"} xref: MESH:C537251 {source="MONDO:equivalentTo"} xref: OMIM:608898 {source="DOID:0110923", source="MONDO:equivalentTo"} xref: Orphanet:540 {source="OMIM:608898", source="MONDO:directSiblingOf"} @@ -241124,13 +246707,14 @@ property_value: confidence "1.7975949917804632" xsd:double id: MONDO:0012154 name: myopia 6 def: "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009937"} +subset: gard_rare {source="GARD:9937"} synonym: "myopia (disease) caused by mutation in SCO2" EXACT [] synonym: "myopia 6" EXACT [MONDO:Lexical, OMIM:608908] synonym: "myopia type 6" EXACT [MONDORULE:1, OMIM:608908] synonym: "myopia, susceptibility to" RELATED [GARD:0009937] synonym: "MYP6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608908] synonym: "SCO2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:9937 {source="OMIM:608908"} xref: MESH:C536105 {source="MONDO:equivalentTo"} xref: OMIM:608908 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="OMIM:608908"} @@ -241148,6 +246732,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9937/myopia- id: MONDO:0012155 name: choanal atresia def: "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." [Orphanet:137914] +subset: gard_rare {source="GARD:16951"} subset: ordo_morphological_anomaly {source="Orphanet:137914"} synonym: "atresia of nares" EXACT [DOID:9574] synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical, OMIM:608911] @@ -241155,6 +246740,7 @@ synonym: "imperforate nares" EXACT [DOID:9574] synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608911] synonym: "posterior choanal atresia" EXACT [DOID:9574] xref: DOID:9574 {source="MONDO:equivalentTo"} +xref: GARD:16951 {source="Orphanet:137914"} xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: ICD9:748.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9574"} xref: MedDRA:10008587 {source="Orphanet:137914", source="Orphanet:137914/e"} @@ -241178,6 +246764,7 @@ property_value: confidence "0.2608695652173916" xsd:double id: MONDO:0012156 name: myasthenic syndrome, congenital, 1B, fast-channel def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q." [DOID:0110662, PMID:10195214, PMID:15079006, PMID:25792100] +subset: gard_rare {source="GARD:15445"} synonym: "CMS1B" EXACT ABBREVIATION [DOID:0110662, MONDO:Lexical, OMIM:608930] synonym: "congenital myasthenic syndrome 1B" RELATED [DOID:0110662] synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [DOID:0110662] @@ -241185,6 +246772,7 @@ synonym: "congenital myasthenic syndrome type 1B" EXACT [DOID:0110662, MONDORULE synonym: "myasthenic syndrome, congenital, 1B, FAST-channel" RELATED [OMIM:608930] synonym: "myasthenic syndrome, congenital, 1B, fast-channel" EXACT [MONDO:Lexical, OMIM:608930] xref: DOID:0110662 {source="MONDO:equivalentTo"} +xref: GARD:15445 {source="OMIM:608930"} xref: OMIM:608930 {source="MONDO:equivalentTo", source="DOID:0110662"} xref: Orphanet:590 {source="OMIM:608930"} xref: UMLS:C1837122 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608930"} @@ -241200,6 +246788,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012157 name: congenital myasthenic syndrome 4C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110679, PMID:25792100, PMID:8957026] +subset: gard_rare {source="GARD:10108"} synonym: "CMS Id" EXACT [DOID:0110679] synonym: "Cms Id" RELATED [OMIM:608931] synonym: "Cms Id, formerly" RELATED [OMIM:608931] @@ -241217,6 +246806,7 @@ synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine rec synonym: "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" RELATED [GARD:0010108] synonym: "myasthenic syndrome, congenital, type Id" RELATED [OMIM:608931] xref: DOID:0110679 {source="MONDO:equivalentTo"} +xref: GARD:10108 {source="OMIM:608931"} xref: OMIM:608931 {source="DOID:0110679", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:608931"} xref: UMLS:C1837091 {source="OMIM:608931", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -241260,12 +246850,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012160 name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome def: "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." [Orphanet:85167] +subset: gard_rare {source="GARD:10647"} subset: ordo_disease {source="Orphanet:85167"} synonym: "SmD-CRD" EXACT [Orphanet:85167] synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0112300 {source="MONDO:equivalentTo"} +xref: GARD:10647 {source="Orphanet:85167"} xref: ICD10CM:Q77.8 {source="Orphanet:85167", source="Orphanet:85167/attributed", source="Orphanet:85167/ntbt"} xref: MESH:C563825 {source="MONDO:equivalentTo"} xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="Orphanet:85167/e"} @@ -241280,11 +246872,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012161 name: susceptibility to respiratory infections associated with CD8alpha chain mutation def: "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." [Orphanet:169085] +subset: gard_rare {source="GARD:17047"} subset: ordo_disease {source="Orphanet:169085"} subset: predisposition synonym: "CD8 deficiency, familial" RELATED [OMIM:608957] synonym: "familial CD8 deficiency" EXACT [Orphanet:169085] synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT CLINGEN_PREFERRED [] +xref: GARD:17047 {source="Orphanet:169085"} xref: ICD10CM:D84.8 {source="Orphanet:169085", source="Orphanet:169085/attributed", source="Orphanet:169085/ntbt"} xref: MESH:C563824 {source="MONDO:equivalentTo"} xref: OMIM:608957 {source="Orphanet:169085/e", source="MONDO:equivalentTo", source="Orphanet:169085"} @@ -241301,6 +246895,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0012162 name: patterned macular dystrophy 2 def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18238"} synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [DOID:0060864] synonym: "CTNNA1 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [OMIM:608970] @@ -241310,6 +246905,7 @@ synonym: "MDPT2" EXACT ABBREVIATION [DOID:0060864] synonym: "patterned macular dystrophy caused by mutation in CTNNA1" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 2" EXACT [DOID:0060864, MONDORULE:1] xref: DOID:0060864 {source="MONDO:equivalentTo"} +xref: GARD:18238 {source="OMIM:608970"} xref: OMIM:608970 {source="DOID:0060864", source="MONDO:equivalentTo"} xref: Orphanet:99001 {source="OMIM:608970"} xref: UMLS:C1837029 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608970"} @@ -241323,6 +246919,7 @@ property_value: confidence "0.4999999999999998" xsd:double id: MONDO:0012163 name: immunodeficiency 104 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." [DOID:0090014, PMID:9068311, PMID:9843216] +subset: gard_rare {source="GARD:18293"} synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [DOID:0090014] synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [DOID:0090014] synonym: "IMD104" EXACT ABBREVIATION [OMIM:608971] @@ -241331,6 +246928,7 @@ synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative synonym: "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" EXACT [OMIM:608971, OMIM:genemap2] synonym: "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" EXACT [OMIM:608971, OMIM:genemap2] xref: DOID:0090014 {source="MONDO:equivalentTo"} +xref: GARD:18293 {source="OMIM:608971"} xref: ICD10CM:D81.2 {source="DOID:0090014"} xref: MESH:C563822 {source="MONDO:equivalentTo"} xref: OMIM:608971 {source="DOID:0090014", source="MONDO:equivalentTo"} @@ -241348,12 +246946,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012164 name: Meacham syndrome def: "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." [Orphanet:3097] +subset: gard_rare {source="GARD:3432"} subset: ordo_malformation_syndrome {source="Orphanet:3097"} synonym: "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" RELATED [GARD:0003432] synonym: "Meacham syndrome" EXACT [OMIM:608978] synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432] synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097] synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097] +xref: GARD:3432 {source="Orphanet:3097"} xref: ICD10CM:Q87.8 {source="Orphanet:3097/attributed", source="Orphanet:3097/ntbt", source="Orphanet:3097"} xref: MESH:C538162 {source="MONDO:equivalentTo"} xref: OMIM:608978 {source="Orphanet:3097/e", source="MONDO:equivalentTo", source="Orphanet:3097"} @@ -241373,10 +246973,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012165 name: BNAR syndrome def: "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." [Orphanet:217266] +subset: gard_rare {source="GARD:10595"} subset: ordo_malformation_syndrome {source="Orphanet:217266"} synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical, OMIM:608980] synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266] synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608980] +xref: GARD:10595 {source="Orphanet:217266"} xref: ICD10CM:Q87.8 {source="Orphanet:217266/attributed", source="Orphanet:217266/ntbt", source="Orphanet:217266"} xref: MESH:C567672 {source="MONDO:equivalentTo"} xref: OMIM:608980 {source="Orphanet:217266/e", source="MONDO:equivalentTo", source="Orphanet:217266"} @@ -241414,8 +247016,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012167 name: atrial fibrillation, familial, 2 +subset: gard_rare {source="GARD:15446"} synonym: "ATFB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608988] synonym: "atrial fibrillation, familial, 2" EXACT [MONDO:Lexical, OMIM:608988] +xref: GARD:15446 {source="OMIM:608988"} xref: MESH:C563903 {source="MONDO:equivalentTo"} xref: OMIM:608988 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:608988"} @@ -241457,6 +247061,7 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0012170 name: autosomal recessive nonsyndromic hearing loss 36 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22611"} synonym: "autosomal recessive deafness 36" NARROW [DOID:0110494] synonym: "autosomal recessive nonsyndromic deafness 36" NARROW CLINGEN_PREFERRED [OMIM:609006] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" NARROW [MONDO:design_pattern] @@ -241468,6 +247073,7 @@ synonym: "deafness, neurosensory, without vestibular involvement, autosomal domi synonym: "DFNB36" NARROW ABBREVIATION [DOID:0110494, MONDO:Lexical, OMIM:609006] synonym: "ESPN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110494 {source="MONDO:equivalentTo"} +xref: GARD:22611 {source="OMIM:609006"} xref: ICD10CM:H90.3 {source="DOID:0110494"} xref: MESH:C563815 {source="MONDO:equivalentTo"} xref: OMIM:609006 {source="MONDO:equivalentTo", source="DOID:0110494"} @@ -241493,7 +247099,7 @@ is_a: MONDO:0003847 {source="MESH:C563814/inferred"} ! hereditary disease id: MONDO:0012172 name: mitochondrial trifunctional protein deficiency def: "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." [Orphanet:746] -subset: gard_rare {source="GARD:0003684"} +subset: gard_rare {source="GARD:3684"} subset: ordo_disease {source="Orphanet:746"} synonym: "mitochondrial trifunctional PROTEIN deficiency" RELATED [OMIM:609015] synonym: "mitochondrial trifunctional protein deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609015] @@ -241503,6 +247109,7 @@ synonym: "TFPD" EXACT ABBREVIATION [Orphanet:746] synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015] synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015] xref: DOID:0111277 {source="MONDO:equivalentTo"} +xref: GARD:3684 {source="Orphanet:746"} xref: ICD10CM:G71.3 {source="Orphanet:746/attributed", source="Orphanet:746/ntbt", source="Orphanet:746"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566945 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e", source="https://github.com/monarch-initiative/mondo/issues/2212"} @@ -241522,6 +247129,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3684/mitocho id: MONDO:0012173 name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency def: "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." [Orphanet:5] +subset: gard_rare {source="GARD:6867"} subset: ordo_disease {source="Orphanet:5"} synonym: "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" RELATED [GARD:0006867] synonym: "fatty liver, acute, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2] @@ -241534,6 +247142,7 @@ synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:6 synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:5] synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867] synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867] +xref: GARD:6867 {source="Orphanet:5"} xref: ICD10CM:E71.3 {source="Orphanet:5", source="Orphanet:5/attributed", source="Orphanet:5/ntbt"} xref: NCIT:C129929 {source="MONDO:equivalentTo"} xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="Orphanet:5/e"} @@ -241584,7 +247193,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012176 name: Emanuel syndrome def: "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." [Orphanet:96170] -subset: gard_rare {source="GARD:0009835"} +subset: gard_rare {source="GARD:9835"} subset: ordo_malformation_syndrome {source="Orphanet:96170"} synonym: "Der(22)t(11;22) syndrome" EXACT [Orphanet:96170] synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:609029, OMIM:genemap2] @@ -241592,6 +247201,7 @@ synonym: "Emanuel syndrome" EXACT [OMIM:609029] synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170] synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835] synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029] +xref: GARD:9835 {source="Orphanet:96170"} xref: ICD10CM:Q92.6 {source="Orphanet:96170", source="Orphanet:96170/attributed", source="Orphanet:96170/ntbt"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535733 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"} @@ -241608,6 +247218,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9835/emanuel id: MONDO:0012177 name: posterior column ataxia-retinitis pigmentosa syndrome def: "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." [Orphanet:88628] +subset: gard_rare {source="GARD:9898"} subset: ordo_disease {source="Orphanet:88628"} synonym: "ataxia, posterior column, with retinitis pigmentosa" EXACT [OMIM:609033, OMIM:genemap2] synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" EXACT [Orphanet:88628] @@ -241615,6 +247226,7 @@ synonym: "AXPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609033] synonym: "PCARP" EXACT ABBREVIATION [Orphanet:88628] synonym: "Pcarp" RELATED [OMIM:609033] synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033] +xref: GARD:9898 {source="Orphanet:88628"} xref: ICD10CM:G11.1 {source="Orphanet:88628", source="Orphanet:88628/attributed", source="Orphanet:88628/ntbt"} xref: MESH:C536343 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} xref: OMIM:609033 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} @@ -241642,8 +247254,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012179 name: narcolepsy 3 +subset: gard_rare {source="GARD:15447"} synonym: "narcolepsy 3" EXACT [OMIM:609039] synonym: "NRCLP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609039] +xref: GARD:15447 {source="OMIM:609039"} xref: OMIM:609039 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:609039"} xref: UMLS:C1836907 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609039"} @@ -241680,6 +247294,7 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0012181 name: hereditary spastic paraplegia 27 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." [DOID:0110778, PMID:15455396] +subset: gard_rare {source="GARD:16940"} subset: ordo_disease {source="Orphanet:101007"} synonym: "autosomal recessive spastic paraplegia 27" EXACT [DOID:0110778] synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778] @@ -241687,6 +247302,7 @@ synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE: synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041] synonym: "SPG27" EXACT ABBREVIATION [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007] xref: DOID:0110778 {source="MONDO:equivalentTo"} +xref: GARD:16940 {source="Orphanet:101007"} xref: ICD10CM:G11.4 {source="DOID:0110778", source="Orphanet:101007", source="Orphanet:101007/attributed", source="Orphanet:101007/ntbt"} xref: MESH:C563807 {source="MONDO:equivalentTo"} xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="Orphanet:101007/e"} @@ -241709,12 +247325,14 @@ is_a: MONDO:0003847 {source="MESH:C563806/inferred"} ! hereditary disease [Term] id: MONDO:0012183 name: melanoma, cutaneous malignant, susceptibility to, 3 +subset: gard_rare {source="GARD:18578"} subset: predisposition synonym: "CMM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609048] synonym: "melanoma, cutaneous malignant, 3" EXACT [OMIM:609048, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609048] synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609048] synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048] +xref: GARD:18578 {source="OMIM:609048"} xref: OMIM:609048 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:609048"} xref: UMLS:C1836892 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609048"} @@ -241733,7 +247351,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012184 name: Pierson syndrome def: "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." [Orphanet:2670] -subset: gard_rare {source="GARD:0009420"} +subset: gard_rare {source="GARD:9420"} subset: ordo_malformation_syndrome {source="Orphanet:2670"} synonym: "microcoria - congenital nephrosis" RELATED [GARD:0009420] synonym: "microcoria - congenital nephrotic syndrome" RELATED [GARD:0009420] @@ -241741,6 +247359,7 @@ synonym: "microcoria-congenital nephrosis syndrome" EXACT [DOID:0060852, Orphane synonym: "microcoria-congenital nephrotic syndrome" RELATED [OMIM:609049] synonym: "Pierson syndrome" EXACT [OMIM:609049] xref: DOID:0060852 {source="MONDO:equivalentTo"} +xref: GARD:9420 {source="Orphanet:2670"} xref: ICD10CM:N04.8 {source="DOID:0060852", source="Orphanet:2670/attributed", source="Orphanet:2670/ntbt", source="Orphanet:2670"} xref: MESH:C537185 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: NCIT:C128145 {source="MONDO:equivalentTo"} @@ -241758,12 +247377,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9420/pierson [Term] id: MONDO:0012185 name: spondylometaphyseal dysplasia, A4 type -subset: gard_rare {source="GARD:0000458"} +subset: gard_rare {source="GARD:458"} subset: ordo_disease {source="Orphanet:168555"} synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052] xref: DOID:0112301 {source="MONDO:equivalentTo"} +xref: GARD:458 {source="Orphanet:168555"} xref: ICD10CM:Q77.8 {source="Orphanet:168555/attributed", source="Orphanet:168555/ntbt", source="Orphanet:168555"} xref: MESH:C563803 {source="MONDO:equivalentTo"} xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"} @@ -241777,6 +247397,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/458/spondylo id: MONDO:0012186 name: Fanconi anemia complementation group I def: "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." [NCIT:C129026] +subset: gard_rare {source="GARD:15448"} synonym: "FANCI" EXACT ABBREVIATION [DOID:0111091, MONDO:Lexical, OMIM:609053] synonym: "Fanconi anaemia complementation group type I" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group I" EXACT CLINGEN_PREFERRED [] @@ -241785,6 +247406,7 @@ synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053] synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical, OMIM:609053] synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1, OMIM:609053] xref: DOID:0111091 {source="MONDO:equivalentTo"} +xref: GARD:15448 {source="OMIM:609053"} xref: MESH:C563802 {source="MONDO:equivalentTo"} xref: NCIT:C129026 {source="MONDO:equivalentTo"} xref: OMIM:609053 {source="DOID:0111091", source="MONDO:equivalentTo"} @@ -241797,6 +247419,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0012187 name: Fanconi anemia complementation group J def: "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." [NCIT:C129027] +subset: gard_rare {source="GARD:15449"} synonym: "FANCJ" EXACT ABBREVIATION [DOID:0111097, MONDO:Lexical, OMIM:609054] synonym: "Fanconi anaemia complementation group type J" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group J" EXACT CLINGEN_PREFERRED [] @@ -241804,6 +247427,7 @@ synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MOND synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054] synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1, OMIM:609054] xref: DOID:0111097 {source="MONDO:equivalentTo"} +xref: GARD:15449 {source="OMIM:609054"} xref: MESH:C563801 {source="MONDO:equivalentTo"} xref: NCIT:C129027 {source="MONDO:equivalentTo"} xref: OMIM:609054 {source="MONDO:equivalentTo", source="DOID:0111097"} @@ -241816,7 +247440,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0012188 name: neuronal ceroid lipofuscinosis 9 def: "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9] -subset: gard_rare {source="GARD:0006618"} +subset: gard_rare {source="GARD:6618"} subset: ordo_etiological_subtype {source="Orphanet:228357"} synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical, OMIM:609055] synonym: "CLN 9" RELATED [GARD:0006618] @@ -241824,6 +247448,7 @@ synonym: "CLN9" EXACT ABBREVIATION [DOID:0110733, MONDO:Lexical, OMIM:609055] synonym: "CLN9 disease" RELATED [Orphanet:228357] synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1] xref: DOID:0110733 {source="MONDO:equivalentTo"} +xref: GARD:6618 {source="Orphanet:228357"} xref: ICD10CM:E75.4 {source="DOID:0110733", source="Orphanet:228357/attributed", source="Orphanet:228357/ntbt", source="Orphanet:228357"} xref: MESH:C537953 {source="MONDO:equivalentTo"} xref: OMIM:609055 {source="DOID:0110733", source="Orphanet:228357/e", source="MONDO:equivalentTo", source="Orphanet:228357"} @@ -241846,11 +247471,13 @@ replaced_by: MONDO:0018274 [Term] id: MONDO:0012190 name: epidermolysis bullosa simplex 7, with nephropathy and deafness +subset: gard_rare {source="GARD:17367"} subset: ordo_disease {source="Orphanet:300333"} synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057, OMIM:genemap2] synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057] synonym: "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] +xref: GARD:17367 {source="Orphanet:300333"} xref: MESH:C563798 {source="MONDO:equivalentTo"} xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source="Orphanet:300333/e"} xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"} @@ -241864,6 +247491,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012191 name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 def: "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." [Orphanet:137681] +subset: gard_rare {source="GARD:16949"} subset: ordo_disease {source="Orphanet:137681"} synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060] synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern] @@ -241874,6 +247502,7 @@ synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681] synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060] xref: DOID:0111474 {source="MONDO:equivalentTo"} +xref: GARD:16949 {source="Orphanet:137681"} xref: ICD10CM:E88.8 {source="Orphanet:137681/attributed", source="Orphanet:137681/ntbt", source="Orphanet:137681"} xref: MESH:C563797 {source="MONDO:equivalentTo"} xref: NCIT:C125663 {source="MONDO:equivalentTo"} @@ -241894,10 +247523,12 @@ property_value: confidence "2.941176470588235" xsd:double id: MONDO:0012192 name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome def: "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." [Orphanet:65288] +subset: gard_rare {source="GARD:16670"} subset: ordo_malformation_syndrome {source="Orphanet:65288"} synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [OMIM:609069] synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069] synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288] +xref: GARD:16670 {source="Orphanet:65288"} xref: MESH:C563796 {source="MONDO:equivalentTo"} xref: OMIM:609069 {source="Orphanet:65288/e", source="MONDO:equivalentTo", source="Orphanet:65288"} xref: Orphanet:65288 {source="MONDO:equivalentTo", source="OMIM:609069"} @@ -241914,6 +247545,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0012193 name: autosomal dominant limb-girdle muscular dystrophy type 1G def: "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." [Orphanet:55596] +subset: gard_rare {source="GARD:12531"} subset: ordo_disease {source="Orphanet:55596"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern] synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -241923,6 +247555,7 @@ synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM: synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115, OMIM:genemap2] xref: DOID:0110306 {source="MONDO:equivalentTo"} +xref: GARD:12531 {source="Orphanet:55596"} xref: ICD10CM:G71.0 {source="DOID:0110306", source="Orphanet:55596/attributed", source="Orphanet:55596/ntbt", source="Orphanet:55596"} xref: MESH:C563794 {source="MONDO:equivalentTo"} xref: OMIM:609115 {source="DOID:0110306", source="Orphanet:55596/e", source="MONDO:equivalentTo", source="Orphanet:55596"} @@ -241939,9 +247572,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012194 name: aneurysm, intracranial berry, 3 +subset: gard_rare {source="GARD:18322"} synonym: "aneurysm, intracranial BERRY, 3" RELATED [MONDO:Lexical, OMIM:609122] synonym: "ANIB3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609122] xref: DOID:0080966 {source="MONDO:equivalentTo"} +xref: GARD:18322 {source="OMIM:609122"} xref: MESH:C563792 {source="MONDO:equivalentTo"} xref: OMIM:609122 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:609122"} @@ -241953,6 +247588,7 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0012195 name: arthrogryposis-severe scoliosis syndrome def: "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." [Orphanet:65720] +subset: gard_rare {source="GARD:16672"} subset: ordo_malformation_syndrome {source="Orphanet:65720"} synonym: "arthrogryposis with Severe scoliosis" RELATED [OMIM:609128] synonym: "arthrogryposis, distal, type 2D" RELATED [OMIM:609128] @@ -241961,6 +247597,7 @@ synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609128] synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720] synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720] xref: DOID:0111610 {source="MONDO:equivalentTo"} +xref: GARD:16672 {source="Orphanet:65720"} xref: ICD10CM:Q68.8 {source="Orphanet:65720/attributed", source="Orphanet:65720/ntbt", source="Orphanet:65720"} xref: MESH:C563791 {source="MONDO:equivalentTo"} xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="Orphanet:65720/e"} @@ -241974,6 +247611,7 @@ property_value: confidence "6.2857142857142865" xsd:double id: MONDO:0012196 name: autosomal dominant auditory neuropathy 1 def: "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18127"} synonym: "auditory neuropathy caused by mutation in DIAPH3" EXACT [MONDO:design_pattern] synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical, OMIM:609129] synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:609129] @@ -241984,6 +247622,7 @@ synonym: "DIAPH3 auditory neuropathy" EXACT [MONDO:design_pattern, MONDO:pattern synonym: "nonsyndromic dominant auditory neuropathy" EXACT [DOID:0060690] synonym: "NSDAN" EXACT ABBREVIATION [DOID:0060690] xref: DOID:0060690 {source="MONDO:equivalentTo"} +xref: GARD:18127 {source="OMIM:609129"} xref: ICD10CM:H90.3 {source="DOID:0060690"} xref: MESH:C563790 {source="MONDO:equivalentTo"} xref: OMIM:609129 {source="MONDO:equivalentTo", source="DOID:0060690"} @@ -241998,6 +247637,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012197 name: idiopathic aplastic anemia def: "Aplastic anemia without a known cause." [NCIT:C61230] +subset: gard_rare {source="GARD:5836"} subset: ordo_disease {source="Orphanet:88"} synonym: "anaemia aplastic" RELATED OMO:0003005 [] synonym: "anemia aplastic" RELATED [GARD:0005836] @@ -242010,6 +247650,7 @@ synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230] synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88] synonym: "secondary aplastic anaemia" RELATED OMO:0003005 [] synonym: "secondary aplastic anemia" RELATED [GARD:0005836] +xref: GARD:5836 {source="Orphanet:88"} xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:88", source="Orphanet:88/e"} xref: ICD10CM:D61.3 {source="MONDO:equivalentTo"} xref: MESH:C538494 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"} @@ -242028,6 +247669,7 @@ property_value: confidence "0.5823588235294124" xsd:double id: MONDO:0012198 name: PCWH syndrome def: "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." [Orphanet:163746] +subset: gard_rare {source="GARD:17004"} subset: ordo_disease {source="Orphanet:163746"} synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111] synonym: "PCWH" EXACT ABBREVIATION [DOID:0090111, MONDO:Lexical, OMIM:609136, Orphanet:163746] @@ -242037,6 +247679,7 @@ synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystro synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136] synonym: "WS4 plus" EXACT [Orphanet:163746] xref: DOID:0090111 {source="MONDO:equivalentTo"} +xref: GARD:17004 {source="Orphanet:163746"} xref: ICD10CM:E75.2 {source="DOID:0090111", source="Orphanet:163746/attributed", source="Orphanet:163746/ntbt", source="Orphanet:163746"} xref: MESH:C563789 {source="MONDO:equivalentTo"} xref: OMIM:609136 {source="Orphanet:163746/e", source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746"} @@ -242060,6 +247703,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012199 name: posterior polymorphous corneal dystrophy 2 def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18213"} synonym: "COL8A2 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "corneal dystrophy, posterior polymorphous 2" EXACT [OMIM:609140, OMIM:genemap2] synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical, OMIM:609140] @@ -242069,6 +247713,7 @@ synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [DOID:0110856, synonym: "PPCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609140] synonym: "Ppcd2" EXACT [DOID:0110856] xref: DOID:0110856 {source="MONDO:equivalentTo"} +xref: GARD:18213 {source="OMIM:609140"} xref: ICD10CM:H18.50 {source="DOID:0110856"} xref: MESH:C565176 {source="MONDO:equivalentTo"} xref: OMIM:609140 {source="DOID:0110856", source="MONDO:equivalentTo"} @@ -242085,6 +247730,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012200 name: posterior polymorphous corneal dystrophy 3 def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18214"} synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical, OMIM:609141] synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1, OMIM:609141] synonym: "posterior polymorphous corneal dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] @@ -242093,6 +247739,7 @@ synonym: "PPCD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609141] synonym: "Ppcd3" EXACT [DOID:0110857] synonym: "ZEB1 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110857 {source="MONDO:equivalentTo"} +xref: GARD:18214 {source="OMIM:609141"} xref: ICD10CM:H18.50 {source="DOID:0110857"} xref: MESH:C563788 {source="MONDO:equivalentTo"} xref: OMIM:609141 {source="DOID:0110857", source="MONDO:equivalentTo"} @@ -242129,6 +247776,7 @@ relationship: predisposes_towards MONDO:0005136 ! malaria id: MONDO:0012203 name: familial hyperthyroidism due to mutations in TSH receptor def: "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." [Orphanet:424] +subset: gard_rare {source="GARD:2858"} subset: ordo_disease {source="Orphanet:424"} synonym: "familial non-immune hyperthyroidism" EXACT [Orphanet:424] synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [OMIM:609152] @@ -242138,6 +247786,7 @@ synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858] synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424] synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152] xref: DOID:0081101 {source="MONDO:equivalentTo"} +xref: GARD:2858 {source="Orphanet:424"} xref: ICD10CM:E05.8 {source="Orphanet:424/attributed", source="Orphanet:424/ntbt", source="Orphanet:424"} xref: MESH:C563786 {source="MONDO:equivalentTo"} xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="Orphanet:424/e"} @@ -242152,6 +247801,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012204 name: familial pseudohyperkalemia def: "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." [Orphanet:90044] +subset: gard_rare {source="GARD:16785"} subset: ordo_disease {source="Orphanet:90044"} synonym: "cryohydrocytosis, mild" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Chiswick" RELATED [OMIM:609153] @@ -242160,6 +247810,7 @@ synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153] synonym: "pseudohyperkalemia, familial, 2, due to red cell leak" EXACT [OMIM:609153] synonym: "PSHK2" EXACT ABBREVIATION [OMIM:609153] +xref: GARD:16785 {source="Orphanet:90044"} xref: ICD10CM:D58.8 {source="Orphanet:90044/attributed", source="Orphanet:90044/ntbt", source="Orphanet:90044"} xref: MESH:C563785 {source="MONDO:equivalentTo"} xref: OMIM:609153 {source="Orphanet:90044", source="MONDO:equivalentTo", source="Orphanet:90044/e"} @@ -242199,7 +247850,7 @@ property_value: confidence "2.2007315957933242" xsd:double id: MONDO:0012206 name: Czech dysplasia, metatarsal type def: "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." [Orphanet:137678] -subset: gard_rare {source="GARD:0010220"} +subset: gard_rare {source="GARD:10220"} subset: ordo_disease {source="Orphanet:137678"} synonym: "Czech dysplasia" RELATED [OMIM:609162] synonym: "Czech dysplasia metatarsal type" RELATED [GARD:0010220] @@ -242207,6 +247858,7 @@ synonym: "Czech dysplasia, metatarsal type" EXACT [OMIM:609162] synonym: "pseudorheumatoid dysplasia progressive, with hypoplastic toes" RELATED [GARD:0010220] synonym: "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" RELATED [OMIM:609162] synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" RELATED [OMIM:609162] +xref: GARD:10220 {source="Orphanet:137678"} xref: ICD10CM:Q77.7 {source="Orphanet:137678/attributed", source="Orphanet:137678/ntbt", source="Orphanet:137678"} xref: MESH:C535766 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} xref: OMIM:609162 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} @@ -242223,7 +247875,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10220/czech- [Term] id: MONDO:0012207 name: umbilicus, familial flat -subset: gard_rare {source="GARD:0009490"} synonym: "flat umbilicus autosomal dominant" RELATED [GARD:0009490] synonym: "flat umbilicus familial" RELATED [GARD:0009490] synonym: "flat umbilicus, autosomal dominant" RELATED [OMIM:609164] @@ -242237,6 +247888,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9490/flat-um [Term] id: MONDO:0012208 name: congenital reticular ichthyosiform erythroderma +subset: gard_rare {source="GARD:17305"} subset: ordo_disease {source="Orphanet:281190"} synonym: "Aarau disease" RELATED [OMIM:609165] synonym: "CRIE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609165, Orphanet:281190] @@ -242245,6 +247897,7 @@ synonym: "erythrokeratoderma, reticular" RELATED [OMIM:609165] synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190] synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190] synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190] +xref: GARD:17305 {source="Orphanet:281190"} xref: MESH:C563781 {source="MONDO:equivalentTo"} xref: OMIM:609165 {source="Orphanet:281190/e", source="MONDO:equivalentTo", source="Orphanet:281190"} xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"} @@ -242265,10 +247918,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012209 name: branchiogenic deafness syndrome def: "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." [Orphanet:50815] +subset: gard_rare {source="GARD:16648"} subset: ordo_malformation_syndrome {source="Orphanet:50815"} synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166] synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815] synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815] +xref: GARD:16648 {source="Orphanet:50815"} xref: ICD10CM:Q87.0 {source="Orphanet:50815/attributed", source="Orphanet:50815/ntbt", source="Orphanet:50815"} xref: MESH:C563780 {source="MONDO:equivalentTo"} xref: OMIM:609166 {source="Orphanet:50815/e", source="MONDO:equivalentTo", source="Orphanet:50815"} @@ -242296,6 +247951,7 @@ property_value: confidence "5.000000000000001" xsd:double id: MONDO:0012211 name: MPDU1-congenital disorder of glycosylation def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." [Orphanet:79323] +subset: gard_rare {source="GARD:9832"} subset: ordo_disease {source="Orphanet:79323"} synonym: "carbohydrate deficient glycoprotein syndrome type If" EXACT [Orphanet:79323] synonym: "carbohydrate-deficient glycoprotein syndrome type 1F" RELATED [GARD:0009832] @@ -242311,6 +247967,7 @@ synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, synonym: "MPDU1-CDG" EXACT ABBREVIATION [Orphanet:79323] synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832] xref: DOID:0080558 {source="MONDO:equivalentTo"} +xref: GARD:9832 {source="Orphanet:79323"} xref: ICD10CM:E77.8 {source="Orphanet:79323/attributed", source="Orphanet:79323/ntbt", source="Orphanet:79323"} xref: MESH:C535744 {source="MONDO:equivalentTo"} xref: NCIT:C126872 {source="MONDO:equivalentTo"} @@ -242333,6 +247990,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012212 name: Loeys-Dietz syndrome 1 def: "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." [NCIT:C75119] +subset: gard_rare {source="GARD:9458"} synonym: "aortic aneurysm, familial thoracic 5" RELATED [OMIM:609192] synonym: "Furlong syndrome" EXACT [OMIM:609192] synonym: "LDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609192] @@ -242342,6 +248000,7 @@ synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR1" EXACT [MONDO:design synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, OMIM:609192] synonym: "TGFBR1 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070235 {source="MONDO:equivalentTo"} +xref: GARD:9458 {source="OMIM:609192"} xref: NCIT:C75119 {source="MONDO:equivalentTo"} xref: OMIM:609192 {source="MONDO:equivalentTo"} xref: Orphanet:60030 {source="OMIM:609192"} @@ -242361,6 +248020,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012213 name: hereditary spastic paraplegia 26 def: "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." [Orphanet:101006] +subset: gard_rare {source="GARD:9587"} subset: ordo_disease {source="Orphanet:101006"} synonym: "autosomal recessive spastic paraplegia 26" EXACT [DOID:0110777] synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777] @@ -242370,6 +248030,7 @@ synonym: "spastic paraplegia 26" RELATED [GARD:0009587] synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609195] synonym: "SPG26" EXACT ABBREVIATION [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006] xref: DOID:0110777 {source="MONDO:equivalentTo"} +xref: GARD:9587 {source="Orphanet:101006"} xref: ICD10CM:G11.4 {source="DOID:0110777", source="Orphanet:101006", source="Orphanet:101006/attributed", source="Orphanet:101006/ntbt"} xref: MESH:C536862 {source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} xref: OMIM:609195 {source="DOID:0110777", source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} @@ -242385,11 +248046,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012214 name: glucocorticoid deficiency 3 +subset: gard_rare {source="GARD:15450"} synonym: "familial glucocorticoid deficiency 3" RELATED [OMIM:609197] synonym: "GCCD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609197] synonym: "glucocorticoid deficiency 2" RELATED [OMIM:609197] synonym: "glucocorticoid deficiency 2, formerly" RELATED [OMIM:609197] synonym: "glucocorticoid deficiency 3" EXACT [MONDO:Lexical, OMIM:609197] +xref: GARD:15450 {source="OMIM:609197"} xref: MESH:C563776 {source="MONDO:equivalentTo"} xref: OMIM:609197 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:609197"} @@ -242401,7 +248064,7 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0012215 name: myofibrillar myopathy 3 def: "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." [Orphanet:98911] -subset: gard_rare {source="GARD:0008711"} +subset: gard_rare {source="GARD:10229", source="GARD:8711", source="GARD:16871"} subset: ordo_disease {source="Orphanet:268129", source="Orphanet:98911"} synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern] @@ -242428,6 +248091,9 @@ synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300] synonym: "spheroid body myopathy" EXACT [MONDO:0008448] xref: DOID:0080094 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110300 {source="MONDO:equivalentObsolete"} +xref: GARD:10229 {source="Orphanet:266"} +xref: GARD:16871 {source="Orphanet:98911"} +xref: GARD:8711 {source="Orphanet:268129"} xref: ICD10CM:G71.0 {source="Orphanet:266/ntbt", source="Orphanet:266/inclusion", source="DOID:0110300", source="Orphanet:266"} xref: ICD10CM:G71.8 {source="Orphanet:268129", source="Orphanet:98911", source="Orphanet:268129/attributed", source="Orphanet:268129/ntbt", source="Orphanet:98911/attributed", source="Orphanet:98911/ntbt"} xref: MESH:C000598645 {source="MONDO:equivalentTo"} @@ -242462,6 +248128,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8711/spheroi [Term] id: MONDO:0012216 name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +subset: gard_rare {source="GARD:17632"} subset: ordo_disease {source="Orphanet:397618"} synonym: "FHONDA syndrome" EXACT [Orphanet:397618] synonym: "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" EXACT CLINGEN_PREFERRED [] @@ -242471,6 +248138,7 @@ synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or ante synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [OMIM:609218, OMIM:genemap2] synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218] synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609218] +xref: GARD:17632 {source="Orphanet:397618"} xref: ICD10CM:Q15.8 {source="Orphanet:397618/attributed", source="Orphanet:397618/ntbt", source="Orphanet:397618"} xref: MESH:C563774 {source="MONDO:equivalentTo"} xref: OMIM:609218 {source="Orphanet:397618/e", source="MONDO:equivalentTo", source="Orphanet:397618"} @@ -242491,12 +248159,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012217 name: Bruck syndrome 2 def: "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10023"} synonym: "BRKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609220] synonym: "Bruck syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609220] synonym: "Bruck syndrome caused by mutation in PLOD2" EXACT [MONDO:design_pattern] synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1, OMIM:609220] synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [OMIM:609220] synonym: "PLOD2 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:10023 {source="OMIM:609220"} xref: MESH:C537407 {source="MONDO:equivalentTo"} xref: OMIM:609220 {source="MONDO:equivalentTo"} xref: Orphanet:2771 {source="OMIM:609220"} @@ -242534,7 +248204,7 @@ relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:609223"} ! spon id: MONDO:0012220 name: Griscelli syndrome type 3 def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes." [DOID:0060834, PMID:12148598, PMID:12897212] -subset: gard_rare {source="GARD:0009715"} +subset: gard_rare {source="GARD:9715"} subset: ordo_clinical_subtype {source="Orphanet:79478"} synonym: "Griscelli disease type 3" RELATED [Orphanet:79478] synonym: "Griscelli syndrome type 3" EXACT CLINGEN_PREFERRED [] @@ -242545,6 +248215,7 @@ synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [DOID:0060834] synonym: "GS3" EXACT ABBREVIATION [DOID:0060834, MONDO:Lexical, OMIM:609227] synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715] xref: DOID:0060834 {source="MONDO:equivalentTo"} +xref: GARD:9715 {source="Orphanet:79478"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79478/attributed", source="Orphanet:79478/ntbt", source="DOID:0060834", source="Orphanet:79478"} xref: MESH:C537303 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: OMIM:609227 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} @@ -242562,7 +248233,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9715/griscel id: MONDO:0012221 name: alpha-N-acetylgalactosaminidase deficiency type 1 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." [Orphanet:79279] -subset: gard_rare +subset: gard_rare {source="GARD:116"} subset: ordo_clinical_subtype {source="Orphanet:79279"} synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [OMIM:609241] synonym: "alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [GARD:0000116] @@ -242579,6 +248250,7 @@ synonym: "Schindler disease, type 3" RELATED [OMIM:609241] synonym: "Schindler disease, type I" RELATED [OMIM:609241] synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2] xref: DOID:0112318 {source="MONDO:equivalentTo"} +xref: GARD:116 {source="Orphanet:79279"} xref: ICD10CM:E77.1 {source="Orphanet:79279/attributed", source="Orphanet:79279/ntbt", source="Orphanet:79279"} xref: OMIM:609241 {source="Orphanet:79279/e", source="GARD:0000116", source="MONDO:equivalentTo", source="GARD:0003903", source="Orphanet:79279"} xref: Orphanet:3137 {source="OMIM:609241"} @@ -242595,6 +248267,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012222 name: alpha-N-acetylgalactosaminidase deficiency type 2 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy." [Orphanet:79280] +subset: gard_rare {source="GARD:9161"} subset: ordo_clinical_subtype {source="Orphanet:79280"} synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [Orphanet:79280] synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" RELATED [GARD:0009161] @@ -242607,6 +248280,7 @@ synonym: "Naga deficiency, type 2" RELATED [OMIM:609242] synonym: "Schindler disease type 2" EXACT [Orphanet:79280] synonym: "Schindler disease, type 2" RELATED [OMIM:609242] xref: DOID:0112319 {source="MONDO:equivalentTo"} +xref: GARD:9161 {source="Orphanet:79280"} xref: ICD10CM:E77.1 {source="Orphanet:79280/attributed", source="Orphanet:79280/ntbt", source="Orphanet:79280"} xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source="Orphanet:79280/e"} xref: Orphanet:3137 {source="OMIM:609242"} @@ -242643,12 +248317,14 @@ is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! heredi id: MONDO:0012225 name: Senior-Loken syndrome 5 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15451"} synonym: "IQCB1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SENIOR-Loken syndrome 5" RELATED [OMIM:609254] synonym: "Senior-Loken syndrome 5" EXACT [MONDO:Lexical, OMIM:609254] synonym: "Senior-Loken syndrome caused by mutation in IQCB1" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1, OMIM:609254] synonym: "SLSN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609254] +xref: GARD:15451 {source="OMIM:609254"} xref: MESH:C563763 {source="MONDO:equivalentTo"} xref: OMIM:609254 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:609254"} @@ -242720,6 +248396,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012231 name: Charcot-Marie-Tooth disease type 2A2 def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." [Orphanet:99947] +subset: gard_rare {source="GARD:16925"} subset: ordo_disease {source="Orphanet:99947"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947] @@ -242742,6 +248419,7 @@ synonym: "HMSN IIa2" RELATED [OMIM:609260] synonym: "HMSN2A2" EXACT ABBREVIATION [DOID:0110155] synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110155 {source="MONDO:equivalentTo"} +xref: GARD:16925 {source="Orphanet:99947"} xref: ICD10CM:G60.0 {source="Orphanet:99947", source="Orphanet:99947/attributed", source="Orphanet:99947/ntbt", source="DOID:0110155"} xref: MESH:C563757 {source="MONDO:equivalentTo"} xref: NCIT:C150646 {source="MONDO:equivalentTo"} @@ -242773,12 +248451,14 @@ id: MONDO:0012233 name: obsolete Li-Fraumeni syndrome 2 def: "OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:16263"} synonym: "CHEK2 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609265] synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265] synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern] synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265] xref: DOID:0111504 {source="MONDO:obsoleteEquivalent"} +xref: GARD:16263 {source="MONDO:obsoleteEquivalent", source="OMIM:609265"} xref: MESH:C563755 {source="MONDO:obsoleteEquivalent"} xref: OMIM:609265 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:524 {source="OMIM:609265"} @@ -242799,7 +248479,7 @@ replaced_by: MONDO:0007903 id: MONDO:0012235 name: autosomal recessive spinocerebellar ataxia 7 def: "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7] -subset: gard_rare {source="GARD:0012232"} +subset: gard_rare {source="GARD:12232"} subset: ordo_disease {source="Orphanet:284324"} synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [DOID:0080059, MONDORULE:1, Orphanet:284324] synonym: "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [GARD:0012232] @@ -242809,6 +248489,7 @@ synonym: "spinocerebellar ataxia autosomal recessive 7" RELATED [GARD:0012232] synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:609270] synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270] xref: DOID:0080059 {source="MONDO:equivalentTo"} +xref: GARD:12232 {source="Orphanet:284324"} xref: ICD10CM:G11.1 {source="Orphanet:284324", source="Orphanet:284324/attributed", source="Orphanet:284324/ntbt"} xref: MESH:C563753 {source="MONDO:equivalentTo"} xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="Orphanet:284324/e"} @@ -242833,6 +248514,7 @@ is_a: MONDO:0015486 {source="DC-OMIM:609271", source="MESH:C563752", source="OMI id: MONDO:0012237 name: nemaline myopathy 6 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15452"} synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609273] @@ -242840,6 +248522,7 @@ synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935] synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1, OMIM:609273] xref: DOID:0110935 {source="MONDO:equivalentTo"} +xref: GARD:15452 {source="OMIM:609273"} xref: MESH:C538398 {source="MONDO:equivalentTo"} xref: OMIM:609273 {source="MONDO:equivalentTo", source="DOID:0110935"} xref: Orphanet:607 {source="OMIM:609273"} @@ -242855,6 +248538,7 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0012238 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16498"} synonym: "PEOA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609283] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283] @@ -242862,6 +248546,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283] synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111517 {source="MONDO:equivalentTo"} +xref: GARD:16498 {source="OMIM:609283"} xref: MESH:C563750 {source="MONDO:equivalentTo"} xref: OMIM:609283 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:609283"} @@ -242877,6 +248562,7 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0012239 name: congenital myopathy 4B, autosomal recessive def: "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15453"} synonym: "NEM1" RELATED ABBREVIATION [OMIM:609284] synonym: "Nem1" RELATED [DOID:0110926, MONDO:Lexical] synonym: "nemaline myopathy 1" RELATED [MONDO:Lexical, OMIM:609284] @@ -242885,6 +248571,7 @@ synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_patt synonym: "nemaline myopathy type 1" RELATED [DOID:0110926, MONDORULE:1, OMIM:609284] synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110926 {source="MONDO:equivalentTo"} +xref: GARD:15453 {source="OMIM:609284"} xref: MESH:C538348 {source="MONDO:equivalentTo"} xref: OMIM:609284 {source="MONDO:equivalentTo", source="DOID:0110926"} xref: Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609284"} @@ -242905,6 +248592,7 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0012240 name: congenital myopathy 23 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15454"} synonym: "cap myopathy 2" EXACT DEPRECATED [OMIM:609285] synonym: "CAPM2" EXACT DEPRECATED [OMIM:609285] synonym: "NEM4" EXACT ABBREVIATION [DOID:0110932, MONDO:Lexical, OMIM:609285] @@ -242914,6 +248602,7 @@ synonym: "nemaline myopathy caused by mutation in TPM2" EXACT [MONDO:design_patt synonym: "nemaline myopathy type 4" EXACT [DOID:0110932, MONDORULE:1, OMIM:609285] synonym: "TPM2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110932 {source="MONDO:equivalentTo"} +xref: GARD:15454 {source="OMIM:609285"} xref: MESH:C538351 {source="MONDO:equivalentTo"} xref: NCIT:C164225 {source="MONDO:equivalentTo"} xref: OMIM:609285 {source="DOID:0110932", source="MONDO:equivalentTo"} @@ -242935,6 +248624,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012241 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16499"} synonym: "PEOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609286] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286] @@ -242942,6 +248632,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286] synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111520 {source="MONDO:equivalentTo"} +xref: GARD:16499 {source="OMIM:609286"} xref: MESH:C563747 {source="MONDO:equivalentTo"} xref: OMIM:609286 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:609286"} @@ -242981,9 +248672,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012244 name: prostate cancer, hereditary, 5 +subset: gard_rare {source="GARD:15455"} synonym: "HPC5" RELATED ABBREVIATION [OMIM:609299] synonym: "prostate cancer, hereditary, 5" EXACT [OMIM:609299] synonym: "prostate cancer, hereditary, type 5" EXACT [MONDORULE:1, OMIM:609299] +xref: GARD:15455 {source="OMIM:609299"} xref: MESH:C563744 {source="MONDO:equivalentTo"} xref: OMIM:609299 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="OMIM:609299"} @@ -242996,6 +248689,7 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012245 name: developmental and epileptic encephalopathy, 3 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15456"} synonym: "DEE3" EXACT ABBREVIATION [OMIM:609304] synonym: "developmental and epileptic encephalopathy 3" EXACT [OMIM:609304, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern] @@ -243004,6 +248698,7 @@ synonym: "epileptic encephalopathy, early infantile, 3" EXACT [MONDO:Lexical, OM synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1, OMIM:609304] synonym: "SLC25A22 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080440 {source="MONDO:equivalentTo"} +xref: GARD:15456 {source="OMIM:609304"} xref: OMIM:609304 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="OMIM:609304"} xref: UMLS:C0270855 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:609304"} @@ -243019,11 +248714,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012246 name: spinocerebellar ataxia type 26 def: "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." [Orphanet:101112] +subset: gard_rare {source="GARD:9995"} subset: ordo_disease {source="Orphanet:101112"} synonym: "SCA26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609306, Orphanet:101112] synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306] synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306] xref: DOID:0050975 {source="MONDO:equivalentTo"} +xref: GARD:9995 {source="Orphanet:101112"} xref: ICD10CM:G11.2 {source="Orphanet:101112/attributed", source="Orphanet:101112/ntbt", source="Orphanet:101112"} xref: MESH:C537203 {source="Orphanet:101112", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: OMIM:609306 {source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo", source="Orphanet:101112/e"} @@ -243038,6 +248735,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012247 name: spinocerebellar ataxia type 27 def: "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." [Orphanet:98764] +subset: gard_rare {source="GARD:9963"} subset: ordo_disease {source="Orphanet:98764"} synonym: "cerebellar ataxia autosomal dominant FGF14-related" RELATED [GARD:0009963] synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [OMIM:609307] @@ -243045,6 +248743,7 @@ synonym: "SCA27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609307, Orphanet:98764] synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307] synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307] xref: DOID:0050976 {source="MONDO:equivalentTo"} +xref: GARD:9963 {source="Orphanet:98764"} xref: ICD10CM:G11.8 {source="Orphanet:98764/attributed", source="Orphanet:98764/ntbt", source="Orphanet:98764"} xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="Orphanet:98764/e"} xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentObsolete", source="DOID:0050976", source="Orphanet:98764/e"} @@ -243060,6 +248759,7 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012248 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." [Orphanet:86812] +subset: gard_rare {source="GARD:12535"} subset: ordo_disease {source="Orphanet:86812"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern] synonym: "LGMD-POMT1 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] @@ -243076,6 +248776,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATE synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110297 {source="MONDO:equivalentTo"} xref: EFO:0009145 {source="MONDO:equivalentTo"} +xref: GARD:12535 {source="Orphanet:86812"} xref: ICD10CM:G71.0 {source="Orphanet:86812/inclusion", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/ntbt"} xref: NCIT:C133730 {source="MONDO:equivalentTo"} xref: OMIM:609308 {source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/e"} @@ -243099,6 +248800,7 @@ property_value: confidence "21.666666666666735" xsd:double id: MONDO:0012249 name: Lynch syndrome 2 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15457"} synonym: "COCA2" RELATED ABBREVIATION [OMIM:609310] synonym: "colon cancer, familial nonpolyposis, type 2" RELATED [OMIM:609310] synonym: "colorectal cancer, hereditary nonpolyposis, type 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609310] @@ -243108,6 +248810,7 @@ synonym: "Hereditary nonpolyposis colorectal cancer type 2" EXACT [NCIT:C6726] synonym: "HNPCC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609310] synonym: "Lynch 2 syndrome" EXACT [NCIT:C6726] xref: DOID:0070274 {source="MONDO:equivalentTo"} +xref: GARD:15457 {source="OMIM:609310"} xref: MESH:D055847 {source="MONDO:equivalentTo"} xref: NCIT:C6726 {source="MONDO:equivalentTo"} xref: OMIM:609310 {source="MONDO:equivalentTo"} @@ -243124,7 +248827,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012250 name: Charcot-Marie-Tooth disease type 4H def: "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" [Orphanet:99954] -subset: gard_rare {source="GARD:0012442"} +subset: gard_rare {source="GARD:12442"} subset: ordo_disease {source="Orphanet:99954"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] @@ -243138,6 +248841,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311] synonym: "CMT4H" EXACT ABBREVIATION [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954] synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110192 {source="MONDO:equivalentTo"} +xref: GARD:12442 {source="Orphanet:99954"} xref: ICD10CM:G60.0 {source="Orphanet:99954/attributed", source="Orphanet:99954/ntbt", source="DOID:0110192", source="Orphanet:99954"} xref: MESH:C563740 {source="MONDO:equivalentTo"} xref: OMIM:609311 {source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo", source="Orphanet:99954/e"} @@ -243156,6 +248860,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12442/charco id: MONDO:0012251 name: MEDNIK syndrome def: "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." [Orphanet:171851] +subset: gard_rare {source="GARD:17072"} subset: ordo_disease {source="Orphanet:171851"} synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] @@ -243166,6 +248871,7 @@ synonym: "MEDNIK" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT DEPRECATED [DOID:0060483] synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] xref: DOID:0060483 {source="MONDO:equivalentTo"} +xref: GARD:17072 {source="Orphanet:171851"} xref: MESH:C563739 {source="MONDO:equivalentTo"} xref: OMIM:609313 {source="Orphanet:171851/e", source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851"} xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"} @@ -243186,6 +248892,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012252 name: rhabdoid tumor predisposition syndrome 1 def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18318"} synonym: "At/RT" RELATED [OMIM:609322] synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322] synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] @@ -243199,6 +248906,7 @@ synonym: "RTPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609322] synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCB1 familial rhabdoid tumour" EXACT OMO:0003005 [] synonym: "teratoid tumor, atypical" RELATED [OMIM:609322] +xref: GARD:18318 {source="OMIM:609322"} xref: MESH:C563738 {source="MONDO:equivalentTo"} xref: NCIT:C178393 {source="MONDO:equivalentTo"} xref: OMIM:609322 {source="MONDO:equivalentTo"} @@ -243221,8 +248929,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012253 name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia def: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." [Orphanet:166029] +subset: gard_rare {source="GARD:17015"} subset: ordo_disease {source="Orphanet:166029"} synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324] +xref: GARD:17015 {source="Orphanet:166029"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:166029", source="Orphanet:166029/attributed", source="Orphanet:166029/ntbt"} xref: MESH:C563736 {source="MONDO:equivalentTo"} xref: OMIM:609324 {source="MONDO:equivalentTo", source="Orphanet:166029", source="Orphanet:166029/e"} @@ -243235,8 +248945,10 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0012254 name: multiple epiphyseal dysplasia, with miniepiphyses def: "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." [Orphanet:166032] +subset: gard_rare {source="GARD:17016"} subset: ordo_disease {source="Orphanet:166032"} synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325] +xref: GARD:17016 {source="Orphanet:166032"} xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="Orphanet:166032/attributed", source="Orphanet:166032/ntbt"} xref: MESH:C563735 {source="MONDO:equivalentTo"} xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="Orphanet:166032/e"} @@ -243260,6 +248972,7 @@ intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (H id: MONDO:0012256 name: hereditary spastic paraplegia 28 def: "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." [Orphanet:101008] +subset: gard_rare {source="GARD:16941"} subset: ordo_disease {source="Orphanet:101008"} synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779] @@ -243270,6 +248983,7 @@ synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE: synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340] synonym: "SPG28" EXACT ABBREVIATION [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008] xref: DOID:0110779 {source="MONDO:equivalentTo"} +xref: GARD:16941 {source="Orphanet:101008"} xref: ICD10CM:G11.4 {source="DOID:0110779", source="Orphanet:101008", source="Orphanet:101008/attributed", source="Orphanet:101008/ntbt"} xref: MESH:C563732 {source="MONDO:equivalentTo"} xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="Orphanet:101008", source="Orphanet:101008/e"} @@ -243285,8 +248999,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012257 name: Cerebrorenodigital syndrome +subset: gard_rare {source="GARD:15458"} subset: ordo_malformation_syndrome {source="Orphanet:1396"} synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345] +xref: GARD:15458 {source="OMIM:609345"} xref: ICD10CM:Q87.8 {source="Orphanet:1396", source="Orphanet:1396/attributed", source="Orphanet:1396/ntbt"} xref: MESH:C563731 {source="MONDO:equivalentTo"} xref: OMIM:609345 {source="Orphanet:1396", source="MONDO:equivalentTo", source="Orphanet:1396/e"} @@ -243301,10 +249017,12 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012258 name: epidermolysis bullosa simplex 2E, with migratory circinate erythema def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." [https://orcid.org/0000-0001-5208-3432, Orphanet:158681] +subset: gard_rare {source="GARD:16990"} subset: ordo_disease {source="Orphanet:158681"} synonym: "EBS-migr" EXACT [Orphanet:158681] synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [OMIM:609352] +xref: GARD:16990 {source="Orphanet:158681"} xref: ICD10CM:Q81.0 {source="Orphanet:158681/attributed", source="Orphanet:158681/ntbt", source="Orphanet:158681"} xref: MESH:C563730 {source="MONDO:equivalentTo"} xref: OMIM:609352 {source="Orphanet:158681/e", source="MONDO:equivalentTo", source="Orphanet:158681"} @@ -243321,7 +249039,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012259 name: colloid cysts of third ventricle def: "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." [https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle] -subset: gard_rare {source="GARD:0009878"} synonym: "colloid cysts of third ventricle" EXACT [OMIM:609363] synonym: "neuroepithelial cysts of third ventricle" RELATED [OMIM:609363] xref: MESH:C535966 {source="MONDO:equivalentTo"} @@ -243334,6 +249051,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9878/colloid id: MONDO:0012260 name: cataract 35 def: "A cataract that has material basis in variation in the region 19q13." [DOID:0110261, PMID:15671291] +subset: gard_rare {source="GARD:9492"} synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [DOID:0110261] synonym: "cataract 35" EXACT [MONDO:Lexical, OMIM:609376] synonym: "cataract 35, congenital nuclear" EXACT [DOID:0110261] @@ -243342,6 +249060,7 @@ synonym: "cataract, congenital nuclear, autosomal recessive 1" RELATED [OMIM:609 synonym: "CATCN1" EXACT ABBREVIATION [DOID:0110261] synonym: "CTRCT35" EXACT ABBREVIATION [DOID:0110261, MONDO:Lexical, OMIM:609376] xref: DOID:0110261 {source="MONDO:equivalentTo"} +xref: GARD:9492 {source="OMIM:609376"} xref: ICD10CM:Q12.0 {source="DOID:0110261"} xref: MESH:C563728 {source="MONDO:equivalentTo"} xref: OMIM:609376 {source="MONDO:equivalentTo", source="DOID:0110261"} @@ -243372,10 +249091,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012262 name: fibrosis of extraocular muscles, congenital, 3c +subset: gard_rare {source="GARD:15459"} synonym: "CFEOM3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609384] synonym: "Feom4 locus" RELATED [OMIM:609384] synonym: "fibrosis of extraocular muscles, congenital, 3C" RELATED [MONDO:Lexical, OMIM:609384] xref: DOID:0081019 {source="MONDO:equivalentTo"} +xref: GARD:15459 {source="OMIM:609384"} xref: MESH:C567666 {source="MONDO:equivalentTo"} xref: OMIM:609384 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609384"} @@ -243403,8 +249124,10 @@ relationship: predisposes_towards MONDO:0007179 {source="OMIM:609400"} ! autoimm [Term] id: MONDO:0012264 name: preeclampsia/eclampsia 2 +subset: gard_rare {source="GARD:18390"} synonym: "PEE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609402] synonym: "PREECLAMPSIA/eclampsia 2" RELATED [MONDO:Lexical, OMIM:609402] +xref: GARD:18390 {source="OMIM:609402"} xref: OMIM:609402 {source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="OMIM:609402"} xref: UMLS:C1836257 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609402"} @@ -243413,8 +249136,10 @@ is_a: MONDO:0005081 {source="DC-OMIM:609402", source="OMIM:609402"} ! preeclamps [Term] id: MONDO:0012265 name: preeclampsia/eclampsia 3 +subset: gard_rare {source="GARD:18391"} synonym: "PEE3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609403] synonym: "PREECLAMPSIA/eclampsia 3" RELATED [MONDO:Lexical, OMIM:609403] +xref: GARD:18391 {source="OMIM:609403"} xref: OMIM:609403 {source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="OMIM:609403"} xref: UMLS:C1836256 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609403"} @@ -243424,12 +249149,14 @@ is_a: MONDO:0005081 {source="DC-OMIM:609403", source="OMIM:609403"} ! preeclamps id: MONDO:0012266 name: preeclampsia/eclampsia 4 def: "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18392"} synonym: "PEE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609404] synonym: "preeclampsia caused by mutation in STOX1" EXACT [MONDO:design_pattern] synonym: "PREECLAMPSIA/eclampsia 4" RELATED [OMIM:609404] synonym: "preeclampsia/eclampsia 4" EXACT [MONDO:Lexical, OMIM:609404] synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1, OMIM:609404] synonym: "STOX1 preeclampsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18392 {source="OMIM:609404"} xref: MESH:C563724 {source="MONDO:equivalentTo"} xref: OMIM:609404 {source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="OMIM:609404"} @@ -243490,6 +249217,7 @@ relationship: disease_has_infectious_agent NCBITaxon:12721 {source="MONDO:Wikida id: MONDO:0012269 name: chromosome 3q29 microdeletion syndrome def: "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." [Orphanet:65286] +subset: gard_rare {source="GARD:11974"} subset: ordo_malformation_syndrome {source="Orphanet:65286"} synonym: "3q subtelomere deletion syndrome" EXACT [DOID:0060419, Orphanet:65286] synonym: "3q29 deletion" RELATED [GARD:0011974] @@ -243504,6 +249232,7 @@ synonym: "monosomy 3q29" EXACT [Orphanet:65286] synonym: "monosomy 3qter" EXACT [Orphanet:65286] xref: DECIPHER:37 {source="MONDO:equivalentTo"} xref: DOID:0060419 {source="MONDO:equivalentTo"} +xref: GARD:11974 {source="Orphanet:65286"} xref: ICD10CM:Q93.5 {source="Orphanet:65286/attributed", source="Orphanet:65286/ntbt", source="Orphanet:65286"} xref: MESH:C567184 {source="MONDO:equivalentTo", source="DOID:0060419"} xref: OMIM:609425 {source="Orphanet:65286/e", source="MONDO:equivalentTo", source="DOID:0060419", source="Orphanet:65286"} @@ -243521,12 +249250,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012270 name: Tukel syndrome +subset: gard_rare {source="GARD:9814"} synonym: "Cfeom-U" RELATED [OMIM:609428] synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" RELATED [GARD:0009814] synonym: "fibrosis of extraocular muscles, congenital, 4" RELATED [OMIM:609428] synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies" RELATED [OMIM:609428] synonym: "Tukel syndrome" EXACT [OMIM:609428] xref: DOID:0081021 {source="MONDO:equivalentTo"} +xref: GARD:9814 {source="OMIM:609428"} xref: MESH:C536925 {source="MONDO:equivalentTo"} xref: OMIM:609428 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609428"} @@ -243537,6 +249268,7 @@ is_a: MONDO:0007614 {source="OMIM:609428", source="Orphanet:45358/btnt"} ! conge id: MONDO:0012271 name: mesoaxial synostotic syndactyly with phalangeal reduction def: "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." [Orphanet:157801] +subset: gard_rare {source="GARD:10590"} subset: ordo_morphological_anomaly {source="Orphanet:157801"} synonym: "MSSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609432, Orphanet:157801] synonym: "syndactyly Malik-Percin type" RELATED [GARD:0010590] @@ -243545,6 +249277,7 @@ synonym: "syndactyly type 9" EXACT [Orphanet:157801] synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801] synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432] synonym: "syndactyly, type 9" RELATED [OMIM:609432] +xref: GARD:10590 {source="Orphanet:157801"} xref: ICD10CM:Q70.0 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} xref: ICD10CM:Q70.2 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} xref: MESH:C563721 {source="MONDO:equivalentTo"} @@ -243561,7 +249294,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012272 name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block -subset: gard_rare {source="GARD:0010064"} synonym: "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" EXACT [OMIM:609438] synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial block" RELATED DEPRECATED [OMIM:609438] xref: MESH:C537452 {source="MONDO:equivalentTo"} @@ -243574,6 +249306,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10064/mental id: MONDO:0012273 name: autosomal recessive nonsyndromic hearing loss 48 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22612"} synonym: "autosomal recessive deafness 48" NARROW [DOID:0110505] synonym: "autosomal recessive nonsyndromic deafness 48" NARROW CLINGEN_PREFERRED [OMIM:609439] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" NARROW [MONDO:design_pattern] @@ -243583,6 +249316,7 @@ synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical, OMIM:609439, synonym: "deafness, autosomal recessive type 48" NARROW [MONDORULE:2, OMIM:609439] synonym: "DFNB48" NARROW ABBREVIATION [DOID:0110505, MONDO:Lexical, OMIM:609439] xref: DOID:0110505 {source="MONDO:equivalentTo"} +xref: GARD:22612 {source="OMIM:609439"} xref: ICD10CM:H90.3 {source="DOID:0110505"} xref: MESH:C563720 {source="MONDO:equivalentTo"} xref: OMIM:609439 {source="DOID:0110505", source="MONDO:equivalentTo"} @@ -243597,7 +249331,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012274 name: acromesomelic dysplasia 3 -subset: gard_rare synonym: "acromesomelic dysplasia 3" EXACT [OMIM:609441, OMIM:genemap2] synonym: "acromesomelic dysplasia, Demirhan type" EXACT [MONDO:Lexical, OMIM:609441] synonym: "AMDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609441] @@ -243620,7 +249353,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10077/chondr id: MONDO:0012275 name: fetal valproate syndrome def: "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." [Orphanet:1906] -subset: gard_rare {source="GARD:0005447"} +subset: gard_rare {source="GARD:5447"} subset: ordo_malformation_syndrome {source="Orphanet:1906"} synonym: "fetal valproate syndrome" EXACT [OMIM:609442] synonym: "fetal valproic acid syndrome" EXACT [DOID:0060471, Orphanet:1906] @@ -243630,6 +249363,7 @@ synonym: "susceptibility to valproate embryopathy" RELATED [GARD:0005447] synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442] synonym: "valproic acid embryopathy" RELATED [GARD:0005447] xref: DOID:0060471 {source="MONDO:equivalentTo"} +xref: GARD:5447 {source="Orphanet:1906"} xref: ICD10CM:Q86.8 {source="Orphanet:1906", source="Orphanet:1906/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016524 {source="Orphanet:1906", source="Orphanet:1906/e"} @@ -243651,6 +249385,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5447/fetal-v id: MONDO:0012276 name: generalized epilepsy-paroxysmal dyskinesia syndrome def: "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." [Orphanet:79137] +subset: gard_rare {source="GARD:16704"} subset: ordo_disease {source="Orphanet:79137"} synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446] synonym: "generalised epilepsy and paroxysmal dyskinesia" RELATED OMO:0003005 [] @@ -243659,6 +249394,7 @@ synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy" RELATED OMO:0003005 [] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446] synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446] +xref: GARD:16704 {source="Orphanet:79137"} xref: ICD10CM:G40.3 {source="Orphanet:79137/attributed", source="Orphanet:79137/ntbt", source="Orphanet:79137"} xref: MESH:C563719 {source="MONDO:equivalentTo"} xref: OMIM:609446 {source="Orphanet:79137/e", source="MONDO:equivalentTo", source="Orphanet:79137"} @@ -243672,6 +249408,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012277 name: myofibrillar myopathy 4 def: "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." [Orphanet:98912] +subset: gard_rare {source="GARD:1886"} subset: ordo_disease {source="Orphanet:98912"} synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [Orphanet:98912] synonym: "LDB3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -243683,6 +249420,7 @@ synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1, OMIM:609452] synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912] synonym: "zaspopathy" EXACT [DOID:0080095] xref: DOID:0080095 {source="MONDO:equivalentTo"} +xref: GARD:1886 {source="Orphanet:98912"} xref: ICD10CM:G71.8 {source="Orphanet:98912", source="Orphanet:98912/attributed", source="Orphanet:98912/ntbt"} xref: MESH:C563718 {source="MONDO:equivalentTo"} xref: OMIM:609452 {source="MONDO:equivalentTo", source="Orphanet:98912", source="Orphanet:98912/e", source="DOID:0080095"} @@ -243700,8 +249438,10 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0012278 name: supranuclear palsy, progressive, 2 +subset: gard_rare {source="GARD:18344"} synonym: "PSNP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609454] synonym: "supranuclear palsy, progressive, 2" EXACT [MONDO:Lexical, OMIM:609454] +xref: GARD:18344 {source="OMIM:609454"} xref: MESH:C563717 {source="MONDO:equivalentTo"} xref: OMIM:609454 {source="MONDO:equivalentTo"} xref: Orphanet:240071 {source="OMIM:609454"} @@ -243723,12 +249463,14 @@ id: MONDO:0012280 name: Goldberg-Shprintzen megacolon syndrome def: "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." [Orphanet:66629] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:9849"} subset: ordo_malformation_syndrome {source="Orphanet:66629"} synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT CLINGEN_PREFERRED [DOID:0060481, OMIM:609460] synonym: "Goldberg-Shprintzen syndrome" RELATED [MONDO:Lexical, OMIM:609460] synonym: "GOSHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609460, Orphanet:66629] synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629] xref: DOID:0060481 {source="MONDO:equivalentTo"} +xref: GARD:9849 {source="Orphanet:66629"} xref: ICD10CM:Q87.8 {source="Orphanet:66629", source="Orphanet:66629/attributed", source="Orphanet:66629/ntbt"} xref: MESH:C537279 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} xref: OMIM:609460 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} @@ -243756,12 +249498,13 @@ replaced_by: MONDO:0008523 id: MONDO:0012282 name: Al-Gazali syndrome def: "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." [https://orcid.org/0000-0001-5208-3432, PMID:10319196] -subset: gard_rare {source="GARD:0010054"} +subset: gard_rare {source="GARD:10054"} subset: ordo_malformation_syndrome synonym: "Al Gazali Al Talabani syndrome" RELATED [GARD:0010054] synonym: "Al Gazali syndrome" RELATED [GARD:0010054] synonym: "Al-Gazali syndrome" EXACT [OMIM:609465] synonym: "eye defects arachnodactyly cardiopathy" RELATED [GARD:0010054] +xref: GARD:10054 {source="Orphanet:2725"} xref: MESH:C536817 {source="MONDO:equivalentTo"} xref: OMIM:609465 {source="MONDO:equivalentTo", source="Orphanet:2725"} xref: Orphanet:2725 {source="MONDO:equivalentTo", source="OMIM:609465"} @@ -243776,7 +249519,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10054/al-gaz [Term] id: MONDO:0012283 name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss -subset: gard_rare {source="GARD:0010063"} synonym: "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" EXACT [OMIM:609466] xref: MESH:C536427 {source="MONDO:equivalentTo"} xref: OMIM:609466 {source="MONDO:equivalentTo"} @@ -243798,8 +249540,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012285 name: left ventricular noncompaction 2 +subset: gard_rare {source="GARD:15460"} synonym: "left ventricular noncompaction 2" EXACT [MONDO:Lexical, OMIM:609470] synonym: "LVNC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609470] +xref: GARD:15460 {source="OMIM:609470"} xref: OMIM:609470 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:609470"} xref: UMLS:C1836118 {source="OMIM:609470", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -243819,10 +249563,12 @@ property_value: confidence "0.125" xsd:double id: MONDO:0012287 name: Stickler syndrome, type I, nonsyndromic ocular comment: Editor note: check this +subset: gard_rare {source="GARD:15461"} synonym: "rhegmatogenous retinal detachment, autosomal dominant" RELATED [OMIM:609508] synonym: "Stickler syndrome, atypical" RELATED [OMIM:609508] synonym: "Stickler syndrome, type i, nonsyndromic ocular" EXACT [OMIM:609508] synonym: "Stickler syndrome, type I, predominantly ocular" RELATED [OMIM:609508] +xref: GARD:15461 {source="OMIM:609508"} xref: MESH:C563709 {source="MONDO:equivalentTo"} xref: OMIM:609508 {source="MONDO:equivalentTo"} xref: Orphanet:209867 {source="OMIM:609508"} @@ -243838,7 +249584,6 @@ property_value: confidence "0.934782608695653" xsd:double [Term] id: MONDO:0012288 name: iridogoniodysgenesis and skeletal anomalies -subset: gard_rare {source="GARD:0010058"} synonym: "iridogoniodysgenesis and skeletal anomalies" EXACT [OMIM:609515] xref: MESH:C535534 {source="MONDO:equivalentTo"} xref: OMIM:609515 {source="MONDO:equivalentTo"} @@ -243851,6 +249596,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10058/iridog id: MONDO:0012289 name: myofibrillar myopathy 5 def: "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." [Orphanet:171445] +subset: gard_rare {source="GARD:17062"} subset: ordo_disease {source="Orphanet:171445"} synonym: "filaminopathy" EXACT [DOID:0080096] synonym: "filaminopathy, autosomal dominant" RELATED [OMIM:609524] @@ -243864,6 +249610,7 @@ synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524] synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524] synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524] xref: DOID:0080096 {source="MONDO:equivalentTo"} +xref: GARD:17062 {source="Orphanet:171445"} xref: ICD10CM:G71.8 {source="Orphanet:171445/attributed", source="Orphanet:171445/ntbt", source="Orphanet:171445"} xref: MESH:C537932 {source="MONDO:equivalentTo"} xref: OMIM:609524 {source="DOID:0080096", source="Orphanet:171445/e", source="MONDO:equivalentTo", source="Orphanet:171445"} @@ -243881,12 +249628,14 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0012290 name: CEDNIK syndrome def: "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." [Orphanet:66631] +subset: gard_rare {source="GARD:9940"} subset: ordo_disease {source="Orphanet:66631"} synonym: "CEDNIK syndrome" EXACT CLINGEN_PREFERRED [OMIM:609528] synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337, OMIM:609528] synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [OMIM:609528] synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631] xref: DOID:0060337 {source="MONDO:equivalentTo"} +xref: GARD:9940 {source="Orphanet:66631"} xref: ICD10CM:Q82.8 {source="Orphanet:66631", source="Orphanet:66631/attributed", source="Orphanet:66631/ntbt"} xref: MESH:C537943 {source="MONDO:equivalentTo", source="DOID:0060337"} xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="Orphanet:66631/e", source="DOID:0060337"} @@ -243906,7 +249655,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012291 name: immunoglobulin A deficiency 2 def: "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010198"} synonym: "IgA, selective deficiency of, TACI related" RELATED [GARD:0010198] synonym: "IgA, selective deficiency of, TACI-related" RELATED [OMIM:609529] synonym: "IGAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609529] @@ -243955,6 +249703,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012293 name: autosomal recessive nonsyndromic hearing loss 23 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22613"} synonym: "autosomal recessive deafness 23" NARROW [DOID:0110481] synonym: "autosomal recessive nonsyndromic deafness 23" NARROW [OMIM:609533] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" NARROW [MONDO:design_pattern] @@ -243964,6 +249713,7 @@ synonym: "deafness, autosomal recessive type 23" NARROW [MONDORULE:2, OMIM:60953 synonym: "DFNB23" NARROW ABBREVIATION [DOID:0110481, MONDO:Lexical, OMIM:609533] synonym: "PCDH15 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110481 {source="MONDO:equivalentTo"} +xref: GARD:22613 {source="OMIM:609533"} xref: ICD10CM:H90.3 {source="DOID:0110481"} xref: MESH:C563705 {source="MONDO:equivalentTo"} xref: OMIM:609533 {source="MONDO:equivalentTo", source="DOID:0110481"} @@ -244004,6 +249754,7 @@ is_obsolete: true id: MONDO:0012295 name: complement component 5 deficiency def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." [NCIT:P378] +subset: gard_rare {source="GARD:2191"} synonym: "C5 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C5 deficiency" EXACT [DOID:8158, OMIM:609536] synonym: "C5D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609536] @@ -244011,6 +249762,7 @@ synonym: "complement component 5 deficiency" EXACT [MONDO:Lexical, OMIM:609536] synonym: "complement deficiency caused by mutation in C5" EXACT [MONDO:design_pattern] synonym: "dysfunction of the fifth component of complement (C5)" RELATED [GARD:0006878] xref: DOID:8158 {source="MONDO:equivalentTo"} +xref: GARD:2191 {source="OMIM:609536"} xref: NCIT:C9469 {source="MONDO:equivalentTo", source="DOID:8158"} xref: OMIM:609536 {source="MONDO:equivalentTo", source="DOID:8158"} xref: Orphanet:169150 {source="OMIM:609536", source="DOID:8158"} @@ -244027,10 +249779,11 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0012296 name: lipomyelomeningocele def: "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." [Orphanet:268835] -subset: gard_rare {source="GARD:0010053"} +subset: gard_rare {source="GARD:10053"} subset: ordo_morphological_anomaly {source="Orphanet:268835"} synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053] synonym: "lipomyelomeningocele" EXACT [OMIM:609537] +xref: GARD:10053 {source="Orphanet:268835"} xref: ICD10CM:Q05.9 {source="Orphanet:268835", source="Orphanet:268835/attributed", source="Orphanet:268835/ntbt"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537030 {source="MONDO:equivalentTo"} @@ -244049,6 +249802,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10053/lipomy id: MONDO:0012297 name: SPOAN syndrome def: "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." [Orphanet:320406] +subset: gard_rare {source="GARD:17479"} subset: ordo_disease {source="Orphanet:320406"} synonym: "spastic paraplegia, optic atrophy, and neuropathy" RELATED [MONDO:Lexical, OMIM:609541] synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [DOID:0060491] @@ -244056,6 +249810,7 @@ synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" RELATED [Orphanet:320406] synonym: "SPOAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609541, Orphanet:320406] xref: DOID:0060491 {source="MONDO:equivalentTo"} +xref: GARD:17479 {source="Orphanet:320406"} xref: ICD10CM:G11.4 {source="Orphanet:320406", source="Orphanet:320406/attributed", source="Orphanet:320406/ntbt", source="DOID:0060491"} xref: MESH:C563702 {source="MONDO:equivalentTo", source="DOID:0060491"} xref: OMIM:609541 {source="Orphanet:320406/e", source="MONDO:equivalentTo", source="Orphanet:320406", source="DOID:0060491"} @@ -244084,6 +249839,7 @@ is_a: MONDO:0003847 {source="MESH:C563701/inferred"} ! hereditary disease id: MONDO:0012299 name: nanophthalmos 2 def: "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18626"} synonym: "MFRP nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Nanophthalmia 2" RELATED [OMIM:609549] synonym: "nanophthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] @@ -244091,6 +249847,7 @@ synonym: "nanophthalmos 2" EXACT [MONDO:Lexical, OMIM:609549] synonym: "nanophthalmos type 2" EXACT [MONDORULE:1, OMIM:609549] synonym: "nanophthalmos, autosomal recessive" RELATED [OMIM:609549] synonym: "NNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609549] +xref: GARD:18626 {source="OMIM:609549"} xref: MESH:C563700 {source="MONDO:equivalentTo"} xref: OMIM:609549 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:609549"} @@ -244105,10 +249862,12 @@ property_value: confidence "1.9907692307692297" xsd:double [Term] id: MONDO:0012300 name: prostate cancer, hereditary, 6 +subset: gard_rare {source="GARD:15462"} synonym: "HPC6" RELATED ABBREVIATION [OMIM:609558] synonym: "prostate cancer, hereditary, 6" EXACT [OMIM:609558] synonym: "prostate cancer, hereditary, type 6" EXACT [MONDORULE:1, OMIM:609558] synonym: "prostate cancer, susceptibility to" RELATED [OMIM:609558, OMIM:genemap2] +xref: GARD:15462 {source="OMIM:609558"} xref: MESH:C563699 {source="MONDO:equivalentTo"} xref: OMIM:609558 {source="MONDO:equivalentTo"} xref: UMLS:C1836005 {source="OMIM:609558", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -244121,6 +249880,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012301 name: mitochondrial DNA depletion syndrome, myopathic form def: "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." [Orphanet:254875] +subset: gard_rare {source="GARD:18369", source="GARD:17228"} subset: ordo_disease {source="Orphanet:254875"} synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [OMIM:609560] synonym: "mitochondrial DNA depletion syndrome 2" RELATED [DOID:0080120] @@ -244129,6 +249889,8 @@ synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MOND synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875] synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609560] xref: DOID:0080120 {source="MONDO:equivalentTo"} +xref: GARD:17228 {source="Orphanet:254875"} +xref: GARD:18369 {source="OMIM:609560"} xref: ICD10CM:G71.3 {source="Orphanet:254875", source="Orphanet:254875/attributed", source="Orphanet:254875/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563698 {source="MONDO:equivalentTo"} @@ -244145,8 +249907,10 @@ property_value: confidence "2.25" xsd:double [Term] id: MONDO:0012302 name: parietal foramina 3 +subset: gard_rare {source="GARD:18052"} synonym: "parietal foramina 3" EXACT [MONDO:Lexical, OMIM:609566] synonym: "PFM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609566] +xref: GARD:18052 {source="OMIM:609566"} xref: MESH:C563697 {source="MONDO:equivalentTo"} xref: OMIM:609566 {source="MONDO:equivalentTo"} xref: Orphanet:60015 {source="OMIM:609566"} @@ -244170,10 +249934,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012304 name: photoparoxysmal response 2 +subset: gard_rare {source="GARD:15463"} synonym: "photoparoxysmal response 2" EXACT [MONDO:Lexical, OMIM:609572] synonym: "photoparoxysmal response with or without idiopathic generalised epilepsy" RELATED OMO:0003005 [] synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [OMIM:609572] synonym: "PPR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609572] +xref: GARD:15463 {source="OMIM:609572"} xref: OMIM:609572 {source="MONDO:equivalentTo"} xref: Orphanet:166409 {source="OMIM:609572"} xref: UMLS:C1835967 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609572"} @@ -244183,9 +249949,11 @@ property_value: confidence "1.5185185185185186" xsd:double [Term] id: MONDO:0012305 name: photoparoxysmal response 3 +subset: gard_rare {source="GARD:15464"} synonym: "photoparoxysmal response 3" EXACT [MONDO:Lexical, OMIM:609573] synonym: "photoparoxysmal response with or without myoclonic epilepsy" RELATED [OMIM:609573] synonym: "PPR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609573] +xref: GARD:15464 {source="OMIM:609573"} xref: MESH:C563695 {source="MONDO:equivalentTo"} xref: OMIM:609573 {source="MONDO:equivalentTo"} xref: Orphanet:166409 {source="OMIM:609573"} @@ -244196,9 +249964,11 @@ property_value: confidence "1.5185185185185186" xsd:double [Term] id: MONDO:0012306 name: cardiomyopathy, familial restrictive, 2 +subset: gard_rare {source="GARD:18071"} synonym: "cardiomyopathy, familial restrictive, 2" EXACT [MONDO:Lexical, OMIM:609578] synonym: "RCM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609578] xref: DOID:0111426 {source="MONDO:equivalentTo"} +xref: GARD:18071 {source="OMIM:609578"} xref: MESH:C566512 {source="MONDO:equivalentTo"} xref: OMIM:609578 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:609578"} @@ -244210,10 +249980,12 @@ property_value: confidence "1.1130104463437793" xsd:double id: MONDO:0012307 name: familial scaphocephaly syndrome, McGillivray type def: "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." [Orphanet:168624] +subset: gard_rare {source="GARD:3426"} subset: ordo_malformation_syndrome {source="Orphanet:168624"} synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [OMIM:609579] synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [OMIM:609579] synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624] +xref: GARD:3426 {source="Orphanet:168624"} xref: ICD10CM:Q87.0 {source="Orphanet:168624", source="Orphanet:168624/attributed", source="Orphanet:168624/ntbt"} xref: MESH:C566511 {source="MONDO:equivalentTo"} xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="Orphanet:168624/e"} @@ -244227,7 +249999,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012308 name: Joubert syndrome with renal defect def: "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." [Orphanet:220497] -subset: gard_rare +subset: gard_rare {source="GARD:15465", source="GARD:10169"} subset: ordo_disease {source="Orphanet:220497"} synonym: "JBTS4" EXACT ABBREVIATION [DOID:0110999, GARD:0010169, MONDO:Lexical, OMIM:609583] synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical, OMIM:609583] @@ -244235,6 +250007,8 @@ synonym: "Joubert syndrome type 4" EXACT [DOID:0110999, MONDORULE:1, OMIM:609583 synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169] synonym: "JS-R" EXACT [Orphanet:220497] xref: DOID:0110999 {source="MONDO:equivalentTo"} +xref: GARD:10169 {source="Orphanet:220497"} +xref: GARD:15465 {source="OMIM:609583"} xref: ICD10CM:Q04.3 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} xref: ICD10CM:Q61.5 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} xref: MESH:C536296 {source="MONDO:equivalentTo"} @@ -244255,11 +250029,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10169/jouber id: MONDO:0012309 name: parietal foramina 2 def: "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18053"} synonym: "ALX4 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "parietal foramina 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609597] synonym: "parietal foramina caused by mutation in ALX4" EXACT [MONDO:design_pattern] synonym: "parietal foramina type 2" EXACT [MONDORULE:1, OMIM:609597] synonym: "PFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609597] +xref: GARD:18053 {source="OMIM:609597"} xref: MESH:C566510 {source="MONDO:equivalentTo"} xref: OMIM:609597 {source="MONDO:equivalentTo"} xref: Orphanet:60015 {source="OMIM:609597"} @@ -244273,10 +250049,12 @@ property_value: confidence "0.22100122100122044" xsd:double [Term] id: MONDO:0012310 name: fibrosis of extraocular muscles, congenital, with synergistic divergence +subset: gard_rare {source="GARD:15466"} synonym: "congenital fibrosis syndrome with synergistic divergence" RELATED [OMIM:609612] synonym: "external ophthalmoplegia with synergistic divergence" RELATED [OMIM:609612] synonym: "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation" RELATED [OMIM:609612] synonym: "fibrosis of extraocular muscles, congenital, with synergistic divergence" EXACT [OMIM:609612] +xref: GARD:15466 {source="OMIM:609612"} xref: MESH:C566508 {source="MONDO:equivalentTo"} xref: OMIM:609612 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609612"} @@ -244298,12 +250076,14 @@ is_a: MONDO:0003847 {source="MESH:C566507/inferred"} ! hereditary disease id: MONDO:0012312 name: short QT syndrome type 1 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18633"} synonym: "KCNH2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "short QT syndrome 1" RELATED [MONDO:Lexical, OMIM:609620] synonym: "short QT syndrome caused by mutation in KCNH2" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 1" EXACT [MONDORULE:1, OMIM:609620] synonym: "SQT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609620] synonym: "SQTS" EXACT ABBREVIATION [Orphanet:51083] +xref: GARD:18633 {source="OMIM:609620"} xref: MESH:C566506 {source="MONDO:equivalentTo"} xref: OMIM:609620 {source="MONDO:equivalentTo", source="Orphanet:51083"} xref: UMLS:C1865020 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609620"} @@ -244317,11 +250097,13 @@ property_value: confidence "1.3823529411764706" xsd:double id: MONDO:0012313 name: short QT syndrome type 2 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18634"} synonym: "KCNQ1 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "short QT syndrome 2" RELATED [MONDO:Lexical, OMIM:609621] synonym: "short QT syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 2" EXACT [MONDORULE:1, OMIM:609621] synonym: "SQT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609621] +xref: GARD:18634 {source="OMIM:609621"} xref: MESH:C566505 {source="MONDO:equivalentTo"} xref: OMIM:609621 {source="MONDO:equivalentTo"} xref: UMLS:C1865019 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609621"} @@ -244335,11 +250117,13 @@ property_value: confidence "1.3823529411764706" xsd:double id: MONDO:0012314 name: short QT syndrome type 3 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18635"} synonym: "KCNJ2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "short QT syndrome 3" RELATED [MONDO:Lexical, OMIM:609622] synonym: "short QT syndrome caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 3" EXACT [MONDORULE:1, OMIM:609622] synonym: "SQT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609622] +xref: GARD:18635 {source="OMIM:609622"} xref: MESH:C566504 {source="MONDO:equivalentTo"} xref: OMIM:609622 {source="MONDO:equivalentTo"} xref: UMLS:C1865018 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609622"} @@ -244353,6 +250137,7 @@ property_value: confidence "1.3823529411764706" xsd:double id: MONDO:0012315 name: distal 10q deletion syndrome def: "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." [Orphanet:96148] +subset: gard_rare {source="GARD:3711"} subset: ordo_malformation_syndrome {source="Orphanet:96148"} synonym: "10q deletion" RELATED [GARD:0003711] synonym: "10q monosomy" RELATED [GARD:0003711] @@ -244369,6 +250154,7 @@ synonym: "telomeric deletion 10q" EXACT [DOID:0060390, Orphanet:96148] synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625] synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390] xref: DOID:0060390 {source="MONDO:equivalentTo"} +xref: GARD:3711 {source="Orphanet:96148"} xref: ICD10CM:Q93.5 {source="Orphanet:96148/attributed", source="Orphanet:96148/ntbt", source="Orphanet:96148", source="DOID:0060390"} xref: MESH:C567182 {source="MONDO:equivalentTo", source="DOID:0060390"} xref: OMIM:609625 {source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390", source="Orphanet:96148/e"} @@ -244387,7 +250173,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012316 name: Majeed syndrome def: "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." [Orphanet:77297] -subset: gard_rare {source="GARD:0010088"} +subset: gard_rare {source="GARD:10088"} subset: ordo_disease {source="Orphanet:77297"} synonym: "CDA and CRMO" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088] @@ -244399,6 +250185,7 @@ synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0 synonym: "MAJEED syndrome" RELATED [OMIM:609628] synonym: "Majeed syndrome" EXACT CLINGEN_PREFERRED [OMIM:609628] synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628] +xref: GARD:10088 {source="Orphanet:77297"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072223 {source="Orphanet:77297/e", source="Orphanet:77297"} xref: MESH:C537839 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} @@ -244436,10 +250223,12 @@ property_value: confidence "4.13" xsd:double [Term] id: MONDO:0012318 name: leukemia, chronic lymphocytic, susceptibility to, 1 +subset: gard_rare {source="GARD:15467"} subset: predisposition synonym: "Clls1" RELATED [OMIM:609630] synonym: "leukemia, chronic lymphocytic, susceptibility to, 1" EXACT [OMIM:609630] synonym: "leukemia, chronic lymphocytic, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:609630] +xref: GARD:15467 {source="OMIM:609630"} xref: OMIM:609630 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:609630"} xref: UMLS:C1864995 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609630"} @@ -244466,12 +250255,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012320 name: migraine, familial hemiplegic, 3 def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10974"} synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern] synonym: "FHM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634] synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111183 {source="MONDO:equivalentTo"} +xref: GARD:10974 {source="OMIM:609634"} xref: MESH:C566500 {source="MONDO:equivalentTo"} xref: OMIM:609634 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:609634"} @@ -244486,6 +250277,7 @@ property_value: confidence "1.0" xsd:double id: MONDO:0012321 name: Alzheimer disease 10 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." [DOID:0110043, PMID:16175510] +subset: gard_rare {source="GARD:16514"} synonym: "AD10" EXACT ABBREVIATION [DOID:0110043] synonym: "Ad10" RELATED [OMIM:609636] synonym: "Alzheimer disease 10" EXACT [DOID:0110043, OMIM:609636] @@ -244496,6 +250288,7 @@ synonym: "Alzheimer disease-10" EXACT [OMIM:609636, OMIM:genemap2] synonym: "Alzheimer's disease 10" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 10" EXACT [DOID:0110043, MONDORULE:2] xref: DOID:0110043 {source="MONDO:equivalentTo"} +xref: GARD:16514 {source="OMIM:609636"} xref: ICD10CM:G30 {source="DOID:0110043"} xref: MESH:C566465 {source="MONDO:equivalentTo"} xref: OMIM:609636 {source="MONDO:equivalentTo", source="DOID:0110043"} @@ -244533,12 +250326,13 @@ property_value: confidence "2.097409750055836" xsd:double id: MONDO:0012323 name: lethal acantholytic epidermolysis bullosa def: "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." [Orphanet:158687] -subset: gard_rare {source="GARD:0009910"} +subset: gard_rare {source="GARD:9910"} subset: ordo_disease {source="Orphanet:158687"} synonym: "EBLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609638] synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OMIM:609638] synonym: "LAEB" EXACT ABBREVIATION [Orphanet:158687] synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638] +xref: GARD:9910 {source="Orphanet:158687"} xref: ICD10CM:Q81.0 {source="Orphanet:158687", source="Orphanet:158687/attributed", source="Orphanet:158687/ntbt"} xref: MESH:C535493 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} xref: OMIM:609638 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} @@ -244553,6 +250347,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9910/epiderm id: MONDO:0012324 name: Frias syndrome def: "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." [Orphanet:264200] +subset: gard_rare {source="GARD:2384"} subset: ordo_malformation_syndrome {source="Orphanet:264200"} synonym: "14q22-q23 microdeletion syndrome" EXACT [Orphanet:264200] synonym: "14q22q23 microdeletion syndrome" EXACT [Orphanet:264200] @@ -244562,6 +250357,7 @@ synonym: "Frias syndrome" EXACT [GARD:0002384, OMIM:609640] synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM:609640] synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200] synonym: "monosomy 14q22q23" EXACT [Orphanet:264200] +xref: GARD:2384 {source="Orphanet:264200"} xref: ICD10CM:Q93.5 {source="Orphanet:264200/attributed", source="Orphanet:264200/ntbt", source="Orphanet:264200"} xref: MESH:C535639 {source="MONDO:equivalentTo"} xref: OMIM:609640 {source="Orphanet:264200", source="MONDO:equivalentTo", source="Orphanet:264200/e"} @@ -244580,7 +250376,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012325 name: Nguyen syndrome -subset: gard_rare {source="GARD:0009754"} synonym: "MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [GARD:0009754] synonym: "MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [OMIM:609643] synonym: "Nguyen syndrome" EXACT [OMIM:609643] @@ -244594,6 +250389,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9754/nguyen- id: MONDO:0012326 name: autosomal recessive nonsyndromic hearing loss 42 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22614"} synonym: "autosomal recessive deafness 42" NARROW [DOID:0110500] synonym: "autosomal recessive nonsyndromic deafness 42" NARROW CLINGEN_PREFERRED [OMIM:609646] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" NARROW [MONDO:design_pattern] @@ -244603,6 +250399,7 @@ synonym: "deafness, autosomal recessive type 42" NARROW [MONDORULE:2, OMIM:60964 synonym: "DFNB42" NARROW ABBREVIATION [DOID:0110500, MONDO:Lexical, OMIM:609646] synonym: "ILDR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110500 {source="MONDO:equivalentTo"} +xref: GARD:22614 {source="OMIM:609646"} xref: ICD10CM:H90.3 {source="DOID:0110500"} xref: MESH:C566460 {source="MONDO:equivalentTo"} xref: OMIM:609646 {source="DOID:0110500", source="MONDO:equivalentTo"} @@ -244618,12 +250415,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012327 name: autosomal recessive nonsyndromic hearing loss 46 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." [DOID:0110503, PMID:15637723] +subset: gard_rare {source="GARD:22615"} synonym: "autosomal recessive deafness 46" NARROW [DOID:0110503] synonym: "autosomal recessive nonsyndromic deafness 46" NARROW [OMIM:609647] synonym: "autosomal recessive nonsyndromic deafness type 46" NARROW [DOID:0110503, MONDORULE:2] synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical, OMIM:609647, OMIM:genemap2] synonym: "DFNB46" NARROW ABBREVIATION [DOID:0110503, MONDO:Lexical, OMIM:609647] xref: DOID:0110503 {source="MONDO:equivalentTo"} +xref: GARD:22615 {source="OMIM:609647"} xref: ICD10CM:H90.3 {source="DOID:0110503"} xref: MESH:C566459 {source="MONDO:equivalentTo"} xref: OMIM:609647 {source="DOID:0110503", source="MONDO:equivalentTo"} @@ -244658,9 +250457,11 @@ is_a: MONDO:0003847 {source="MESH:C566457/inferred"} ! hereditary disease id: MONDO:0012330 name: talo-patello-scaphoid osteolysis def: "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." [Orphanet:50809] +subset: gard_rare {source="GARD:10061"} subset: ordo_malformation_syndrome {source="Orphanet:50809"} synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809] synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655] +xref: GARD:10061 {source="Orphanet:50809"} xref: MESH:C536894 {source="MONDO:equivalentTo"} xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="Orphanet:50809/e"} xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"} @@ -244692,6 +250493,7 @@ replaced_by: MONDO:0800046 id: MONDO:0012333 name: autosomal recessive nonsyndromic hearing loss 53 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22616"} synonym: "autosomal recessive deafness 53" NARROW [DOID:0110509] synonym: "autosomal recessive nonsyndromic deafness 53" NARROW [OMIM:609706] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] @@ -244701,6 +250503,7 @@ synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical, OMIM:609706, synonym: "deafness, autosomal recessive type 53" NARROW [MONDORULE:2, OMIM:609706] synonym: "DFNB53" NARROW ABBREVIATION [DOID:0110509, MONDO:Lexical, OMIM:609706] xref: DOID:0110509 {source="MONDO:equivalentTo"} +xref: GARD:22616 {source="OMIM:609706"} xref: ICD10CM:H90.3 {source="DOID:0110509"} xref: MESH:C566453 {source="MONDO:equivalentTo"} xref: OMIM:609706 {source="MONDO:equivalentTo", source="DOID:0110509"} @@ -244716,6 +250519,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012334 name: hereditary spastic paraplegia 29 def: "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." [Orphanet:101009] +subset: gard_rare {source="GARD:9729"} subset: ordo_disease {source="Orphanet:101009"} synonym: "autosomal dominant spastic paraplegia 29" EXACT [DOID:0110780] synonym: "autosomal dominant spastic paraplegia type 29" RELATED [Orphanet:101009] @@ -244724,6 +250528,7 @@ synonym: "spastic paraplegia 29" RELATED [GARD:0009729] synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609727] synonym: "SPG29" EXACT ABBREVIATION [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009] xref: DOID:0110780 {source="MONDO:equivalentTo"} +xref: GARD:9729 {source="Orphanet:101009"} xref: ICD10CM:G11.4 {source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/attributed", source="Orphanet:101009/ntbt"} xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="Orphanet:101009/e"} xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/e"} @@ -244738,6 +250543,7 @@ property_value: confidence "22.61111111111111" xsd:double id: MONDO:0012335 name: obesity due to pro-opiomelanocortin deficiency def: "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." [Orphanet:71526] +subset: gard_rare {source="GARD:10823"} subset: ordo_malformation_syndrome {source="Orphanet:71526"} synonym: "OBAIRH" RELATED ABBREVIATION [OMIM:609734] synonym: "obesity, adrenal insufficiency, and red hair due to POMC deficiency" EXACT [OMIM:609734, OMIM:genemap2] @@ -244746,6 +250552,7 @@ synonym: "obesity, early-onset, with adrenal insufficiency and RED hair" RELATED synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [OMIM:609734] synonym: "POMC deficiency" EXACT [Orphanet:71526] synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734] +xref: GARD:10823 {source="Orphanet:71526"} xref: ICD10CM:E66.8 {source="Orphanet:71526", source="Orphanet:71526/attributed", source="Orphanet:71526/ntbt"} xref: ICD9:255.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565726 {source="MONDO:equivalentTo"} @@ -244885,6 +250692,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0012342 name: 7q11.23 microduplication syndrome def: "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." [Orphanet:96121] +subset: gard_rare {source="GARD:12076"} subset: ordo_malformation_syndrome {source="Orphanet:96121"} synonym: "7q11.23 duplication syndrome" RELATED [GARD:0012076] synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [OMIM:609757] @@ -244897,6 +250705,7 @@ synonym: "Wbs triplication syndrome" RELATED [OMIM:609757] synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757] xref: DECIPHER:43 {source="MONDO:equivalentTo"} xref: DOID:0080926 {source="MONDO:equivalentTo"} +xref: GARD:12076 {source="Orphanet:96121"} xref: MESH:C565723 {source="MONDO:equivalentTo"} xref: OMIM:609757 {source="Orphanet:96121/e", source="MONDO:equivalentTo", source="Orphanet:96121"} xref: Orphanet:96121 {source="OMIM:609757", source="MONDO:equivalentTo"} @@ -244915,9 +250724,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012343 name: aortic aneurysm, familial abdominal, 2 +subset: gard_rare {source="GARD:16492"} synonym: "AAA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609782] synonym: "aortic aneurysm, familial abdominal 2" EXACT [OMIM:609782, OMIM:genemap2] synonym: "aortic aneurysm, familial abdominal, 2" EXACT [MONDO:Lexical, OMIM:609782] +xref: GARD:16492 {source="OMIM:609782"} xref: MESH:C565229 {source="MONDO:equivalentTo"} xref: OMIM:609782 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="OMIM:609782"} @@ -244930,6 +250741,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012344 name: Alzheimer disease 11 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." [DOID:0110044, PMID:18761660] +subset: gard_rare {source="GARD:16515"} synonym: "AD11" EXACT ABBREVIATION [DOID:0110044] synonym: "Ad11" RELATED [OMIM:609790] synonym: "Alzheimer disease 11" EXACT [DOID:0110044, OMIM:609790] @@ -244939,6 +250751,7 @@ synonym: "Alzheimer disease-11" EXACT [OMIM:609790, OMIM:genemap2] synonym: "Alzheimer's disease 11" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 11" EXACT [DOID:0110044, MONDORULE:2] xref: DOID:0110044 {source="MONDO:equivalentTo"} +xref: GARD:16515 {source="OMIM:609790"} xref: ICD10CM:G30 {source="DOID:0110044"} xref: MESH:C565228 {source="MONDO:equivalentTo"} xref: OMIM:609790 {source="MONDO:equivalentTo", source="DOID:0110044"} @@ -244952,7 +250765,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012345 name: acral peeling skin syndrome def: "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." [Orphanet:263534] -subset: gard_rare {source="GARD:0012863"} +subset: gard_rare {source="GARD:12863"} subset: ordo_disease {source="Orphanet:263534"} synonym: "acral deciduous skin" EXACT [Orphanet:263534] synonym: "acral peeling skin syndrome" EXACT CLINGEN_PREFERRED [OMIM:609796] @@ -244965,6 +250778,7 @@ synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796] synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796] synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796] synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609796] +xref: GARD:12863 {source="Orphanet:263534"} xref: ICD10CM:Q80.8 {source="Orphanet:263534", source="Orphanet:263534/attributed", source="Orphanet:263534/ntbt"} xref: MESH:C536316 {source="MONDO:equivalentTo"} xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="Orphanet:263534/e"} @@ -244979,10 +250793,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12863/acral- [Term] id: MONDO:0012346 name: generalized epilepsy with febrile seizures plus, type 4 +subset: gard_rare {source="GARD:18662"} synonym: "Gefs+, type 4" RELATED [OMIM:609800] synonym: "GEFSP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609800] synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT [MONDO:Lexical, OMIM:609800] xref: DOID:0111293 {source="MONDO:equivalentTo"} +xref: GARD:18662 {source="OMIM:609800"} xref: MESH:C565227 {source="MONDO:equivalentTo"} xref: OMIM:609800 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:609800"} @@ -245005,7 +250821,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012348 name: maturity-onset diabetes of the young type 8 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010662"} +subset: gard_rare {source="GARD:10662"} synonym: "CEL maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "diabetes and pancreatic exocrine" EXACT [DOID:0111105] synonym: "diabetes and pancreatic exocrine dysfunction" RELATED [OMIM:609812] @@ -245021,6 +250837,7 @@ synonym: "MODY type 8" EXACT [DOID:0111105] synonym: "MODY8" EXACT ABBREVIATION [DOID:0111105, MONDO:Lexical, OMIM:609812] synonym: "type 8 maturity-onset diabetes of the young" RELATED [GARD:0010662] xref: DOID:0111105 {source="MONDO:equivalentTo"} +xref: GARD:10662 {source="OMIM:609812"} xref: MESH:C565225 {source="MONDO:equivalentTo"} xref: OMIM:609812 {source="DOID:0111105", source="MONDO:equivalentTo"} xref: Orphanet:552 {source="GARD:0010662"} @@ -245038,6 +250855,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10662/maturi id: MONDO:0012349 name: spondylocostal dysostosis 3, autosomal recessive def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:4973"} synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG" EXACT [] synonym: "LFNG autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "SCDO3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609813] @@ -245045,6 +250863,7 @@ synonym: "SCOD3" RELATED ABBREVIATION [GARD:0004973] synonym: "spondylocostal dysostosis 3" RELATED [GARD:0004973] synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609813] xref: DOID:0112361 {source="MONDO:equivalentTo"} +xref: GARD:4973 {source="OMIM:609813"} xref: OMIM:609813 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="OMIM:609813"} xref: UMLS:C1853296 {source="OMIM:609813", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -245059,10 +250878,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012350 name: complement factor H deficiency +subset: gard_rare {source="GARD:18551"} synonym: "Cfh deficiency" RELATED [OMIM:609814] synonym: "CFHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609814] synonym: "complement factor H deficiency" EXACT [MONDO:Lexical, OMIM:609814] synonym: "factor H deficiency" RELATED [OMIM:609814] +xref: GARD:18551 {source="OMIM:609814"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562875 {source="MONDO:equivalentTo"} xref: OMIM:609814 {source="MONDO:equivalentTo"} @@ -245082,6 +250903,7 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0012351 name: zygodactyly type 1 +subset: gard_rare {source="GARD:17357"} subset: ordo_clinical_subtype {source="Orphanet:295187"} synonym: "SD1, Weidenreich type" EXACT [Orphanet:295187] synonym: "SD1a" EXACT [Orphanet:295187] @@ -245092,6 +250914,7 @@ synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815] synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815] synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187] xref: DOID:0111820 {source="MONDO:equivalentTo"} +xref: GARD:17357 {source="Orphanet:295187"} xref: ICD10CM:Q70.3 {source="Orphanet:295187/attributed", source="Orphanet:295187/ntbt", source="Orphanet:295187"} xref: MESH:C565223 {source="MONDO:equivalentTo"} xref: OMIM:609815 {source="Orphanet:295187", source="MONDO:equivalentTo", source="Orphanet:295187/e"} @@ -245114,12 +250937,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012353 name: erythrocytosis, familial, 3 def: "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18355"} synonym: "ECYT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609820] synonym: "EGLN1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis, familial, 3" EXACT [MONDO:Lexical, OMIM:609820] synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:609820] synonym: "familial polycythemia caused by mutation in EGLN1" EXACT [MONDO:design_pattern] xref: DOID:0080338 {source="MONDO:equivalentTo"} +xref: GARD:18355 {source="OMIM:609820"} xref: MESH:C565221 {source="MONDO:equivalentTo"} xref: OMIM:609820 {source="MONDO:equivalentTo", source="DOID:0080338"} xref: Orphanet:247511 {source="OMIM:609820"} @@ -245134,6 +250959,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0012354 name: platelet-type bleeding disorder 8 def: "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." [Orphanet:36355] +subset: gard_rare {source="GARD:12478"} subset: ordo_disease {source="Orphanet:36355"} synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692, Orphanet:36355] synonym: "BDPLT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609821] @@ -245144,6 +250970,7 @@ synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical, OMIM:6098 synonym: "P2Y12 defect" EXACT [DOID:0060692] synonym: "platelet-type bleeding disorder 8" EXACT CLINGEN_PREFERRED [] xref: DOID:0060692 {source="MONDO:equivalentTo"} +xref: GARD:12478 {source="Orphanet:36355"} xref: ICD10CM:D69.8 {source="DOID:0060692", source="Orphanet:36355/attributed", source="Orphanet:36355/ntbt", source="Orphanet:36355"} xref: MESH:C565220 {source="MONDO:equivalentTo"} xref: OMIM:609821 {source="DOID:0060692", source="Orphanet:36355/e", source="MONDO:equivalentTo", source="Orphanet:36355"} @@ -245159,6 +250986,7 @@ property_value: confidence "17.133333333333336" xsd:double id: MONDO:0012355 name: autosomal recessive nonsyndromic hearing loss 28 def: "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." [NCIT:C129023] +subset: gard_rare {source="GARD:22617"} synonym: "autosomal recessive deafness 28" NARROW [DOID:0110486] synonym: "autosomal recessive nonsyndromic deafness 28" NARROW CLINGEN_PREFERRED [OMIM:609823] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" NARROW [MONDO:design_pattern] @@ -245168,6 +250996,7 @@ synonym: "deafness, autosomal recessive type 28" NARROW [MONDORULE:2, OMIM:60982 synonym: "DFNB28" NARROW ABBREVIATION [DOID:0110486, MONDO:Lexical, OMIM:609823] synonym: "TRIOBP autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110486 {source="MONDO:equivalentTo"} +xref: GARD:22617 {source="OMIM:609823"} xref: ICD10CM:H90.3 {source="DOID:0110486"} xref: MESH:C565218 {source="MONDO:equivalentTo"} xref: NCIT:C129023 {source="MONDO:equivalentTo"} @@ -245226,11 +251055,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012359 name: combined immunodeficiency due to partial RAG1 deficiency def: "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." [Orphanet:231154] +subset: gard_rare {source="GARD:13712"} subset: ordo_disease {source="Orphanet:231154"} synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [OMIM:609889] synonym: "CID due to partial RAG1 deficiency" EXACT [Orphanet:231154] synonym: "CID with expansion of gamma delta T cells" EXACT [Orphanet:231154] synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154] +xref: GARD:13712 {source="Orphanet:231154"} xref: ICD10CM:D81.8 {source="Orphanet:231154/attributed", source="Orphanet:231154/ntbt", source="Orphanet:231154"} xref: MESH:C563691 {source="MONDO:equivalentTo"} xref: OMIM:609889 {source="Orphanet:231154", source="MONDO:equivalentTo", source="Orphanet:231154/e"} @@ -245279,6 +251110,7 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0012362 name: dilated cardiomyopathy 1P def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15469"} synonym: "cardiomyopathy, dilated, 1P" EXACT [MONDO:Lexical, OMIM:609909] synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4, OMIM:609909] synonym: "CMD1P" EXACT ABBREVIATION [DOID:0110439, MONDO:Lexical, OMIM:609909] @@ -245286,6 +251118,7 @@ synonym: "dilated cardiomyopathy type 1P" EXACT [DOID:0110439, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern] synonym: "PLN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110439 {source="MONDO:equivalentTo"} +xref: GARD:15469 {source="OMIM:609909"} xref: ICD10CM:I42.0 {source="DOID:0110439"} xref: MESH:C563690 {source="MONDO:equivalentTo"} xref: OMIM:609909 {source="DOID:0110439", source="MONDO:equivalentTo"} @@ -245299,11 +251132,12 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0012363 name: retinitis pigmentosa 32 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." [DOID:0110355, PMID:16189710] -subset: gard_rare {source="GARD:0010395"} +subset: gard_rare {source="GARD:10395"} synonym: "retinitis pigmentosa 32" EXACT [MONDO:Lexical, OMIM:609913] synonym: "retinitis pigmentosa type 32" EXACT [DOID:0110355, MONDORULE:2] synonym: "RP32" EXACT ABBREVIATION [DOID:0110355, GARD:0010395, MONDO:Lexical, OMIM:609913] xref: DOID:0110355 {source="MONDO:equivalentTo"} +xref: GARD:10395 {source="OMIM:609913"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110355"} xref: MESH:C563689 {source="MONDO:equivalentTo"} xref: OMIM:609913 {source="MONDO:equivalentTo", source="DOID:0110355"} @@ -245315,10 +251149,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10395/retini id: MONDO:0012364 name: dilated cardiomyopathy 1Q def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." [DOID:0110442, PMID:16228230] +subset: gard_rare {source="GARD:15470"} synonym: "cardiomyopathy, dilated, 1Q" RELATED [MONDO:Lexical, OMIM:609915] synonym: "CMD1Q" EXACT ABBREVIATION [DOID:0110442, MONDO:Lexical, OMIM:609915] synonym: "dilated cardiomyopathy type 1Q" EXACT [DOID:0110442, MONDORULE:4] xref: DOID:0110442 {source="MONDO:equivalentTo"} +xref: GARD:15470 {source="OMIM:609915"} xref: ICD10CM:I42.0 {source="DOID:0110442"} xref: MESH:C563688 {source="MONDO:equivalentTo"} xref: OMIM:609915 {source="MONDO:equivalentTo", source="DOID:0110442"} @@ -245353,7 +251189,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0012367 name: retinitis pigmentosa 31 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010396"} +subset: gard_rare {source="GARD:10396"} synonym: "retinitis pigmentosa 31" EXACT [MONDO:Lexical, OMIM:609923] synonym: "retinitis pigmentosa caused by mutation in TOPORS" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 31" EXACT [DOID:0110391, MONDORULE:2, OMIM:609923] @@ -245361,6 +251197,7 @@ synonym: "RP 31" RELATED [GARD:0010396] synonym: "RP31" EXACT ABBREVIATION [DOID:0110391, MONDO:Lexical, OMIM:609923] synonym: "TOPORS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110391 {source="MONDO:equivalentTo"} +xref: GARD:10396 {source="OMIM:609923"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110391"} xref: MESH:C563685 {source="MONDO:equivalentTo"} xref: OMIM:609923 {source="MONDO:equivalentTo", source="DOID:0110391"} @@ -245375,7 +251212,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10396/retini id: MONDO:0012368 name: aminoacylase 1 deficiency def: "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." [Orphanet:137754] -subset: gard_rare +subset: gard_rare {source="GARD:9741"} subset: ordo_disease {source="Orphanet:137754"} synonym: "ACY1 deficiency" RELATED [GARD:0009741] synonym: "ACY1D" EXACT ABBREVIATION [GARD:0009741, MESH:C538246, MONDO:Lexical, OMIM:609924, Orphanet:137754] @@ -245384,6 +251221,7 @@ synonym: "deficiency of the aminoacylase-1 enzyme" RELATED [GARD:0009741, MESH:C synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754] synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754] xref: EFO:1001981 {source="MONDO:equivalentTo"} +xref: GARD:9741 {source="Orphanet:137754"} xref: ICD10CM:E72.8 {source="Orphanet:137754", source="Orphanet:137754/attributed", source="Orphanet:137754/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538246 {source="MONDO:equivalentTo"} @@ -245416,12 +251254,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012370 name: autosomal recessive nonsyndromic hearing loss 51 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." [DOID:0110508, PMID:16158433] +subset: gard_rare {source="GARD:9918"} synonym: "autosomal recessive deafness 51" NARROW [DOID:0110508] synonym: "autosomal recessive nonsyndromic deafness 51" NARROW [OMIM:609941] synonym: "autosomal recessive nonsyndromic deafness type 51" NARROW [DOID:0110508, MONDORULE:2] synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical, OMIM:609941, OMIM:genemap2] synonym: "DFNB51" NARROW ABBREVIATION [DOID:0110508, MONDO:Lexical, OMIM:609941] xref: DOID:0110508 {source="MONDO:equivalentTo"} +xref: GARD:9918 {source="OMIM:609941"} xref: ICD10CM:H90.3 {source="DOID:0110508"} xref: MESH:C538202 {source="MONDO:equivalentTo"} xref: OMIM:609941 {source="MONDO:equivalentTo", source="DOID:0110508"} @@ -245434,7 +251274,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012371 name: Noonan syndrome 3 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009885"} +subset: gard_rare {source="GARD:9885"} synonym: "KRAS gene related Noonan syndrome" EXACT [GARD:0009885] synonym: "KRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Noonan syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609942] @@ -245442,6 +251282,7 @@ synonym: "Noonan syndrome caused by mutation in KRAS" EXACT [MONDO:design_patter synonym: "Noonan syndrome type 3" EXACT [DOID:0060581, MONDORULE:1, OMIM:609942] synonym: "NS3" EXACT ABBREVIATION [DOID:0060581, MONDO:Lexical, OMIM:609942] xref: DOID:0060581 {source="MONDO:equivalentTo"} +xref: GARD:9885 {source="OMIM:609942"} xref: MESH:C537847 {source="MONDO:equivalentTo"} xref: NCIT:C176931 {source="MONDO:equivalentTo"} xref: OMIM:609942 {source="MONDO:equivalentTo", source="DOID:0060581"} @@ -245463,7 +251304,6 @@ replaced_by: MONDO:0007617 [Term] id: MONDO:0012373 name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features -subset: gard_rare {source="GARD:0009939"} synonym: "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" EXACT [OMIM:609944] xref: MESH:C536182 {source="MONDO:equivalentTo"} xref: OMIM:609944 {source="MONDO:equivalentTo"} @@ -245474,7 +251314,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9939/ectoder [Term] id: MONDO:0012374 name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia -subset: gard_rare {source="GARD:0009893"} synonym: "brachyphalangy, polydactyly and absent tibiae" RELATED [GARD:0009893] synonym: "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" EXACT [OMIM:609945] xref: MESH:C537100 {source="MONDO:equivalentTo"} @@ -245487,6 +251326,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9893/brachyp id: MONDO:0012375 name: autosomal recessive nonsyndromic hearing loss 47 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." [DOID:0110504, PMID:16261342] +subset: gard_rare {source="GARD:9935"} synonym: "autosomal recessive deafness 47" NARROW [DOID:0110504] synonym: "autosomal recessive nonsyndromic deafness 47" NARROW [OMIM:609946] synonym: "autosomal recessive nonsyndromic deafness type 47" NARROW [DOID:0110504, MONDORULE:2] @@ -245494,6 +251334,7 @@ synonym: "deafness, autosomal recessive 47" NARROW [MONDO:Lexical, OMIM:609946] synonym: "deafness, neurosensory, autosomal recessive 47" EXACT [GARD:0009935, OMIM:609946, OMIM:genemap2] synonym: "DFNB47" NARROW ABBREVIATION [DOID:0110504, MONDO:Lexical, OMIM:609946] xref: DOID:0110504 {source="MONDO:equivalentTo"} +xref: GARD:9935 {source="OMIM:609946"} xref: ICD10CM:H90.3 {source="DOID:0110504"} xref: MESH:C566498 {source="MONDO:equivalentTo"} xref: OMIM:609946 {source="DOID:0110504", source="MONDO:equivalentTo"} @@ -245506,12 +251347,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012376 name: autosomal recessive nonsyndromic hearing loss 55 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." [DOID:0110510, PMID:16098016] +subset: gard_rare {source="GARD:9919"} synonym: "autosomal recessive deafness 55" NARROW [DOID:0110510] synonym: "autosomal recessive nonsyndromic deafness 55" NARROW [OMIM:609952] synonym: "autosomal recessive nonsyndromic deafness type 55" NARROW [DOID:0110510, MONDORULE:2] synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical, OMIM:609952, OMIM:genemap2] synonym: "DFNB55" NARROW ABBREVIATION [DOID:0110510, MONDO:Lexical, OMIM:609952] xref: DOID:0110510 {source="MONDO:equivalentTo"} +xref: GARD:9919 {source="OMIM:609952"} xref: ICD10CM:H90.3 {source="DOID:0110510"} xref: MESH:C538203 {source="MONDO:equivalentTo"} xref: OMIM:609952 {source="MONDO:equivalentTo", source="DOID:0110510"} @@ -245541,6 +251384,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012378 name: fibromatosis, gingival, 3 +subset: gard_rare {source="GARD:9911"} synonym: "fibromatosis gingival, hereditary, 3" RELATED [GARD:0009911] synonym: "fibromatosis, gingival, 3" EXACT [MONDO:Lexical, OMIM:609955] synonym: "fibromatosis, gingival, hereditary, 3" RELATED [OMIM:609955] @@ -245549,6 +251393,7 @@ synonym: "GINGF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609955] synonym: "gingival fibromatosis, 3" RELATED [GARD:0009911] synonym: "hereditary gingival fibromatosis, 3" RELATED [GARD:0009911] synonym: "HGF3" RELATED ABBREVIATION [GARD:0009911] +xref: GARD:9911 {source="OMIM:609955"} xref: MESH:C537928 {source="MONDO:equivalentTo"} xref: OMIM:609955 {source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="OMIM:609955"} @@ -245571,6 +251416,7 @@ is_a: MONDO:0010940 {source="MONDO:cjm"} ! inherited susceptibility to asthma id: MONDO:0012380 name: autosomal dominant nonsyndromic hearing loss 53 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." [DOID:0110579, PMID:15958501] +subset: gard_rare {source="GARD:9934"} synonym: "autosomal dominant deafness 53" NARROW [DOID:0110579] synonym: "autosomal dominant nonsyndromic deafness 53" NARROW [OMIM:609965] synonym: "autosomal dominant nonsyndromic deafness type 53" NARROW [DOID:0110579, MONDORULE:2] @@ -245578,6 +251424,7 @@ synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical, OMIM:609965, O synonym: "deafness, autosomal dominant nonsyndromic sensorineural 53" NARROW [GARD:0009934] synonym: "DFNA53" NARROW ABBREVIATION [DOID:0110579, MONDO:Lexical, OMIM:609965] xref: DOID:0110579 {source="MONDO:equivalentTo"} +xref: GARD:9934 {source="OMIM:609965"} xref: ICD10CM:H90.3 {source="DOID:0110579"} xref: MESH:C566495 {source="MONDO:equivalentTo"} xref: OMIM:609965 {source="DOID:0110579", source="MONDO:equivalentTo"} @@ -245590,6 +251437,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012381 name: hyperinsulinism due to INSR deficiency def: "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." [Orphanet:263458] +subset: gard_rare {source="GARD:17256"} subset: ordo_disease {source="Orphanet:263458"} synonym: "HHF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609968] synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [Orphanet:263458] @@ -245597,6 +251445,7 @@ synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXAC synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968] synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968] xref: DOID:0070220 {source="MONDO:equivalentTo"} +xref: GARD:17256 {source="Orphanet:263458"} xref: ICD10CM:E16.1 {source="Orphanet:263458/attributed", source="Orphanet:263458/ntbt", source="Orphanet:263458"} xref: MESH:C566494 {source="MONDO:equivalentTo"} xref: OMIM:609968 {source="Orphanet:263458/e", source="MONDO:equivalentTo", source="Orphanet:263458"} @@ -245612,7 +251461,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012382 name: hyperinsulinemic hypoglycemia, familial, 4 def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:9870"} subset: ordo_disease {source="Orphanet:71212"} synonym: "3-alpha hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310] @@ -245640,6 +251489,7 @@ synonym: "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency" REL synonym: "SCHAD deficiency" RELATED [MESH:C535310, OMIM:231530, Orphanet:71212] synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530] xref: DOID:0070215 {source="MONDO:equivalentTo"} +xref: GARD:9870 {source="Orphanet:71212"} xref: ICD10CM:E71.3 {source="Orphanet:71212/attributed", source="Orphanet:71212/ntbt", source="Orphanet:71212"} xref: MESH:C535310 {source="MONDO:relatedTo"} xref: MESH:C566493 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -245664,6 +251514,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9870/3-alpha id: MONDO:0012383 name: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency def: "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21." [Orphanet:75391] +subset: gard_rare {source="GARD:16695"} subset: ordo_disease {source="Orphanet:75391"} synonym: "IMD54" RELATED ABBREVIATION [OMIM:609981] synonym: "immunodeficiency 54" RELATED [OMIM:609981] @@ -245673,6 +251524,7 @@ synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:60998 synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609981] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391] xref: DOID:0111967 {source="MONDO:equivalentTo"} +xref: GARD:16695 {source="Orphanet:75391"} xref: ICD10CM:D84.8 {source="Orphanet:75391", source="Orphanet:75391/attributed", source="Orphanet:75391/ntbt"} xref: MESH:C566492 {source="MONDO:equivalentTo"} xref: NCIT:C123729 {source="MONDO:equivalentTo"} @@ -245699,7 +251551,6 @@ is_a: MONDO:0031240 {source="DC-OMIM:609985", source="OMIM:609985"} ! familial p [Term] id: MONDO:0012385 name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands -subset: gard_rare {source="GARD:0009942"} synonym: "cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly" RELATED [OMIM:609989] synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" EXACT [OMIM:609989] xref: MESH:C537354 {source="MONDO:equivalentTo"} @@ -245711,7 +251562,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9942/metaphy [Term] id: MONDO:0012386 name: trichoscyphodysplasia -subset: gard_rare {source="GARD:0009861"} synonym: "cupped metaphyses and cone-Shaped epiphyses with alopecia" RELATED [OMIM:609990] synonym: "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" RELATED [OMIM:609990] synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" RELATED [OMIM:609990] @@ -245726,11 +251576,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9861/trichos id: MONDO:0012387 name: osteosclerosis-ichthyosis-premature ovarian failure syndrome def: "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." [Orphanet:75325] +subset: gard_rare {source="GARD:9904"} subset: ordo_disease {source="Orphanet:75325"} synonym: "osteosclerosis with ichthyosis and POF" RELATED [GARD:0009904] synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325] +xref: GARD:9904 {source="Orphanet:75325"} xref: MESH:C536064 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} xref: OMIM:609993 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} xref: Orphanet:75325 {source="MONDO:equivalentTo", source="OMIM:609993"} @@ -245774,7 +251626,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012390 name: arthrogryposis multiplex with deafness, inguinal hernias, and early death -subset: gard_rare {source="GARD:0009946"} synonym: "arthrogryposis multiplex with deafness, inguinal hernias, and early death" EXACT [OMIM:610001] xref: MESH:C535381 {source="MONDO:equivalentTo"} xref: OMIM:610001 {source="MONDO:equivalentTo"} @@ -245786,6 +251637,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9946/arthrog id: MONDO:0012391 name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant def: "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." [Orphanet:1947] +subset: gard_rare {source="GARD:4010"} subset: ordo_disease {source="Orphanet:1947"} subset: ordo_subtype_of_a_disorder synonym: "ceroid lipofuscinosis neuronal 8" RELATED [GARD:0004010] @@ -245810,6 +251662,7 @@ synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010] synonym: "progressive myoclonic epilepsy with neuroserpin inclusion bodies" EXACT [MONDO:0035160] xref: DOID:0110724 {source="MONDO:equivalentTo"} +xref: GARD:4010 {source="Orphanet:1947"} xref: ICD10CM:E75.4 {source="DOID:0110724", source="Orphanet:1947/attributed", source="Orphanet:1947/ntbt", source="Orphanet:1947"} xref: ICD10CM:G40.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530298"} xref: OMIM:610003 {source="Orphanet:1947/e", source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947"} @@ -245830,7 +251683,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4010/norther id: MONDO:0012392 name: 2-methylbutyryl-CoA dehydrogenase deficiency def: "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." [Orphanet:79157] -subset: gard_rare {source="GARD:0010322"} +subset: gard_rare {source="GARD:10322"} subset: ordo_disease {source="Orphanet:79157"} synonym: "2-methylbutyric aciduria" EXACT [Orphanet:79157] synonym: "2-methylbutyryl Glycinuria" RELATED [OMIM:610006] @@ -245842,6 +251695,7 @@ synonym: "SBCAD deficiency" EXACT [Orphanet:79157] synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0010322] synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006] synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157] +xref: GARD:10322 {source="Orphanet:79157"} xref: ICD10CM:E71.1 {source="Orphanet:79157/attributed", source="Orphanet:79157/ntbt", source="Orphanet:79157"} xref: MESH:C566487 {source="MONDO:equivalentTo"} xref: NCIT:C98863 {source="MONDO:equivalentTo"} @@ -245859,6 +251713,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10322/2-meth [Term] id: MONDO:0012393 name: congenital brain dysgenesis due to glutamine synthetase deficiency +subset: gard_rare {source="GARD:9848"} subset: ordo_disease {source="Orphanet:71278"} synonym: "congenital brain dysgenesis due to glutamine synthetase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "congenital glutamine deficiency" RELATED [GARD:0009848] @@ -245867,6 +251722,7 @@ synonym: "glutamine synthase deficiency, congenital systemic" RELATED [OMIM:6100 synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:0009848] synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278] synonym: "inherited GS deficiency" EXACT [Orphanet:71278] +xref: GARD:9848 {source="Orphanet:71278"} xref: ICD10CM:E72.8 {source="Orphanet:71278/attributed", source="Orphanet:71278/ntbt", source="Orphanet:71278"} xref: MESH:C536832 {source="MONDO:equivalentTo"} xref: OMIM:610015 {source="Orphanet:71278", source="MONDO:equivalentTo", source="Orphanet:71278/e"} @@ -245882,13 +251738,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012394 name: multiple synostoses syndrome 2 def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0009916"} +subset: gard_rare {source="GARD:9916"} synonym: "GDF5 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple synostoses syndrome 2" EXACT [MONDO:Lexical, OMIM:610017] synonym: "multiple synostoses syndrome caused by mutation in GDF5" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1, OMIM:610017] synonym: "SYNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610017] xref: DOID:0081318 {source="MONDO:equivalentTo"} +xref: GARD:9916 {source="OMIM:610017"} xref: MESH:C537380 {source="MONDO:equivalentTo"} xref: OMIM:610017 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:610017"} @@ -245905,6 +251762,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9916/multipl id: MONDO:0012395 name: cataract 18 def: "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:9892"} synonym: "autosomal recessive congenital cataract 2" EXACT [DOID:0110238] synonym: "cataract (disease) caused by mutation in FYCO1" EXACT [] synonym: "cataract 18" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610019] @@ -245916,6 +251774,7 @@ synonym: "CATC2" EXACT ABBREVIATION [DOID:0110238] synonym: "CTRCT18" EXACT ABBREVIATION [DOID:0110238, MONDO:Lexical, OMIM:610019] synonym: "FYCO1 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110238 {source="MONDO:equivalentTo"} +xref: GARD:9892 {source="OMIM:610019"} xref: ICD10CM:Q12.0 {source="DOID:0110238"} xref: MESH:C535337 {source="MONDO:equivalentTo"} xref: OMIM:610019 {source="DOID:0110238", source="MONDO:equivalentTo"} @@ -245937,6 +251796,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012396 name: exercise-induced hyperinsulinism def: "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." [Orphanet:165991] +subset: gard_rare {source="GARD:9932"} subset: ordo_disease {source="Orphanet:165991"} synonym: "EIHI" EXACT ABBREVIATION [Orphanet:165991] synonym: "exercise induced hyperinsulinemic hypoglycemia" RELATED [GARD:0009932] @@ -245952,6 +251812,7 @@ synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [Orphanet:165991] synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839] synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839] xref: DOID:0070214 {source="MONDO:equivalentTo"} +xref: GARD:9932 {source="Orphanet:165991"} xref: ICD10CM:E16.1 {source="Orphanet:165991", source="Orphanet:165991/attributed", source="Orphanet:165991/ntbt"} xref: MESH:C538376 {source="MONDO:equivalentTo"} xref: NCIT:C131839 {source="MONDO:equivalentTo"} @@ -245980,7 +251841,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012398 name: retinal cone dystrophy 3A comment: Editor note: TODO logical defs for achromatopsias -subset: gard_rare {source="GARD:0010648"} +subset: gard_rare {source="GARD:10648"} synonym: "achromatopsia 6" RELATED [OMIM:610024] synonym: "cone dystrophy with night blindness and supernormal rod responses PDE6H-related" RELATED [GARD:0010648] synonym: "cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related" RELATED [OMIM:610024] @@ -245989,6 +251850,7 @@ synonym: "retinal cone dystrophy 3" EXACT [OMIM:610024, OMIM:genemap2] synonym: "retinal cone dystrophy 3A" EXACT [MONDO:Lexical, OMIM:610024] synonym: "retinal cone dystrophy type 3A" EXACT [MONDORULE:4, OMIM:610024] xref: DOID:0081025 {source="MONDO:equivalentTo"} +xref: GARD:10648 {source="OMIM:610024"} xref: MESH:C566483 {source="MONDO:equivalentTo"} xref: OMIM:610024 {source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="OMIM:610024"} @@ -246004,6 +251866,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10648/retina id: MONDO:0012399 name: complex cortical dysplasia with other brain malformations 7 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17375"} subset: ordo_malformation_syndrome {source="Orphanet:300573"} synonym: "CDCBM7" EXACT ABBREVIATION [DOID:0090132] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern] @@ -246015,6 +251878,7 @@ synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132] synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031] synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090132 {source="MONDO:equivalentTo"} +xref: GARD:17375 {source="Orphanet:300573"} xref: ICD10CM:Q04.3 {source="Orphanet:300573", source="Orphanet:300573/attributed", source="Orphanet:300573/ntbt", source="DOID:0090132"} xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="Orphanet:300573/e"} xref: Orphanet:208444 {source="OMIM:610031", source="DOID:0090132"} @@ -246039,6 +251903,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012400 name: cortical dysplasia-focal epilepsy syndrome def: "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." [NCIT:C133743] +subset: gard_rare {source="GARD:16997"} subset: ordo_disease {source="Orphanet:163681"} synonym: "CDFE syndrome" EXACT [DOID:0090130, OMIM:610042] synonym: "CDFES" EXACT ABBREVIATION [DOID:0090130, MONDO:Lexical, OMIM:610042] @@ -246047,6 +251912,7 @@ synonym: "Pitt-Hopkins like syndrome 1" EXACT [OMIM:610042, OMIM:genemap2] synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042] synonym: "PTHSL1" RELATED ABBREVIATION [OMIM:610042] xref: DOID:0090130 {source="MONDO:equivalentTo"} +xref: GARD:16997 {source="Orphanet:163681"} xref: ICD10CM:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="Orphanet:163681/attributed", source="Orphanet:163681/ntbt"} xref: MESH:C567657 {source="MONDO:equivalentTo"} xref: NCIT:C133743 {source="MONDO:equivalentTo"} @@ -246065,6 +251931,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012401 name: congenital stromal corneal dystrophy def: "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." [Orphanet:101068] +subset: gard_rare {source="GARD:16943"} subset: ordo_disease {source="Orphanet:101068"} synonym: "congenital hereditary stromal dystrophy" EXACT [DOID:0060445, Orphanet:101068] synonym: "congenital stromal corneal dystrophy" EXACT [OMIM:610048] @@ -246072,6 +251939,7 @@ synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:61 synonym: "CSCD" EXACT ABBREVIATION [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068] synonym: "Witschel dystrophy" EXACT [Orphanet:101068] xref: DOID:0060445 {source="MONDO:equivalentTo"} +xref: GARD:16943 {source="Orphanet:101068"} xref: ICD10CM:H18.5 {source="Orphanet:101068/attributed", source="Orphanet:101068/ntbt", source="Orphanet:101068", source="DOID:0060445"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445"} @@ -246127,12 +251995,14 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0012405 name: polyposis syndrome, hereditary mixed, 2 def: "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18276"} synonym: "BMPR1A hereditary mixed polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary mixed polyposis syndrome caused by mutation in BMPR1A" EXACT [MONDO:design_pattern] synonym: "HMPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610069] synonym: "polyposis syndrome, hereditary mixed, 2" EXACT [MONDO:Lexical, OMIM:610069] synonym: "polyposis syndrome, hereditary mixed, type 2" EXACT [MONDORULE:1, OMIM:610069] xref: DOID:0111686 {source="MONDO:equivalentTo"} +xref: GARD:18276 {source="OMIM:610069"} xref: MESH:C566451 {source="MONDO:equivalentTo"} xref: OMIM:610069 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="OMIM:610069"} @@ -246146,9 +252016,11 @@ property_value: confidence "1.3210526315789468" xsd:double [Term] id: MONDO:0012406 name: hyperparathyroidism 3 +subset: gard_rare {source="GARD:18255"} synonym: "HRPT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610071] synonym: "hyperparathyroidism 3" EXACT [MONDO:Lexical, OMIM:610071] synonym: "hyperparathyroidism, familial isolated" RELATED [OMIM:610071] +xref: GARD:18255 {source="OMIM:610071"} xref: MESH:C566450 {source="MONDO:equivalentTo"} xref: OMIM:610071 {source="MONDO:equivalentTo"} xref: Orphanet:99879 {source="OMIM:610071"} @@ -246163,6 +252035,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012407 name: pyridoxal phosphate-responsive seizures def: "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." [Orphanet:79096] +subset: gard_rare {source="GARD:10730"} subset: ordo_disease {source="Orphanet:79096"} synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [OMIM:610090] synonym: "PNPO deficiency" EXACT [Orphanet:79096] @@ -246178,6 +252051,7 @@ synonym: "pyridoxine 5' phosphate oxidase deficiency" EXACT [https://orcid.org/0 synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730] synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090] xref: DOID:0111329 {source="MONDO:equivalentTo"} +xref: GARD:10730 {source="Orphanet:79096"} xref: ICD10CM:G40.8 {source="Orphanet:79096", source="Orphanet:79096/attributed", source="Orphanet:79096/ntbt"} xref: MESH:C566449 {source="MONDO:equivalentTo"} xref: OMIM:610090 {source="MONDO:equivalentTo", source="Orphanet:79096", source="Orphanet:79096/e"} @@ -246195,6 +252069,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012408 name: microphthalmia, isolated, with coloboma 3 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15471"} synonym: "MCOPCB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610092] synonym: "microphthalmia with coloboma 3" EXACT [OMIM:610092, OMIM:genemap2] synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [OMIM:610092] @@ -246203,6 +252078,7 @@ synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical, OMIM: synonym: "microphthalmia, isolated, with coloboma caused by mutation in VSX2" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1, OMIM:610092] synonym: "VSX2 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15471 {source="OMIM:610092"} xref: MESH:C566447 {source="MONDO:equivalentTo"} xref: OMIM:610092 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:610092"} @@ -246243,11 +252119,13 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0012410 name: Finnish upper limb-onset distal myopathy def: "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." [Orphanet:399086] +subset: gard_rare {source="GARD:17652"} subset: ordo_disease {source="Orphanet:399086"} synonym: "distal myopathy type 3" EXACT [Orphanet:399086] synonym: "MPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610099, Orphanet:399086] synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099] xref: DOID:0111189 {source="MONDO:equivalentTo"} +xref: GARD:17652 {source="Orphanet:399086"} xref: ICD10CM:G71.0 {source="Orphanet:399086/attributed", source="Orphanet:399086/ntbt", source="Orphanet:399086"} xref: OMIM:610099 {source="Orphanet:399086/e", source="MONDO:equivalentTo", source="Orphanet:399086"} xref: Orphanet:399086 {source="OMIM:610099", source="MONDO:equivalentTo"} @@ -246261,6 +252139,7 @@ property_value: confidence "0.20000000000000018" xsd:double id: MONDO:0012411 name: giant axonal neuropathy 2 def: "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12447"} subset: ordo_disease {source="Orphanet:401964"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964] synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964] @@ -246272,6 +252151,7 @@ synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:desi synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1] synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964] xref: DOID:0090069 {source="MONDO:equivalentTo"} +xref: GARD:12447 {source="Orphanet:401964"} xref: ICD10CM:G60.0 {source="Orphanet:401964/attributed", source="Orphanet:401964/ntbt", source="Orphanet:401964"} xref: OMIM:610100 {source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo", source="Orphanet:401964/e"} xref: Orphanet:401964 {source="OMIM:610100", source="MONDO:equivalentTo"} @@ -246288,12 +252168,14 @@ property_value: confidence "2.25" xsd:double id: MONDO:0012412 name: complement component 7 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18290"} synonym: "C7 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C7 deficiency" RELATED [OMIM:610102] synonym: "C7D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610102] synonym: "classic complement early component deficiency caused by mutation in C7" EXACT [MONDO:design_pattern] synonym: "complement component 7 deficiency" EXACT [MONDO:Lexical, OMIM:610102] xref: DOID:0060300 {source="MONDO:equivalentTo"} +xref: GARD:18290 {source="OMIM:610102"} xref: ICD10CM:D84.1 {source="DOID:0060300"} xref: MESH:C566443 {source="MONDO:equivalentTo"} xref: OMIM:610102 {source="DOID:0060300", source="MONDO:equivalentTo"} @@ -246311,6 +252193,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0012413 name: syndromic microphthalmia type 5 def: "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." [Orphanet:178364] +subset: gard_rare {source="GARD:3692"} subset: ordo_malformation_syndrome {source="Orphanet:178364"} synonym: "MCOPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610125, Orphanet:178364] synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692] @@ -246323,6 +252206,7 @@ synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:desi synonym: "syndromic microphthalmia type 5" EXACT CLINGEN_PREFERRED [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364] xref: DOID:0111806 {source="MONDO:equivalentTo"} +xref: GARD:3692 {source="Orphanet:178364"} xref: ICD10CM:Q11.2 {source="Orphanet:178364", source="Orphanet:178364/attributed", source="Orphanet:178364/ntbt"} xref: MESH:C566441 {source="MONDO:equivalentTo"} xref: OMIM:610125 {source="Orphanet:178364", source="MONDO:equivalentTo", source="Orphanet:178364/e"} @@ -246341,7 +252225,7 @@ property_value: confidence "0.4999999999999998" xsd:double id: MONDO:0012414 name: neuronal ceroid lipofuscinosis 10 def: "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10] -subset: gard_rare {source="GARD:0001218"} +subset: gard_rare {source="GARD:1218"} subset: ordo_etiological_subtype {source="Orphanet:228337"} synonym: "Cathepsin D deficiency" EXACT [DOID:0110725, Orphanet:228337] synonym: "ceroid lipofuscinosis neuronal Cathepsin D-deficient" RELATED [GARD:0001218] @@ -246363,6 +252247,7 @@ synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [D synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2] synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127] xref: DOID:0110725 {source="MONDO:equivalentTo"} +xref: GARD:1218 {source="Orphanet:228337"} xref: ICD10CM:E75.4 {source="Orphanet:228337", source="DOID:0110725", source="Orphanet:228337/attributed", source="Orphanet:228337/ntbt"} xref: MESH:C566438 {source="MONDO:equivalentTo"} xref: OMIM:610127 {source="Orphanet:228337", source="DOID:0110725", source="MONDO:equivalentTo", source="Orphanet:228337/e"} @@ -246389,6 +252274,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1218/neurona id: MONDO:0012415 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16500"} synonym: "PEOA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610131] synonym: "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" EXACT [MONDO:design_pattern] @@ -246396,6 +252282,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:610131] synonym: "progressive external ophthalmoplegia, autosomal dominant 4" RELATED [OMIM:610131] xref: DOID:0111525 {source="MONDO:equivalentTo"} +xref: GARD:16500 {source="OMIM:610131"} xref: MESH:C566437 {source="MONDO:equivalentTo"} xref: OMIM:610131 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:610131"} @@ -246410,7 +252297,6 @@ property_value: confidence "0.9297058823529412" xsd:double [Term] id: MONDO:0012416 name: Devriendt syndrome -subset: gard_rare {source="GARD:0010052"} synonym: "Devriendt syndrome" EXACT [OMIM:610136] synonym: "severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism" RELATED [GARD:0010052] synonym: "severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism" RELATED DEPRECATED [GARD:0010052] @@ -246424,11 +252310,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10052/devrie id: MONDO:0012417 name: heart-hand syndrome, Slovenian type def: "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." [Orphanet:168796] -subset: gard_rare {source="GARD:0009846"} +subset: gard_rare {source="GARD:9846"} subset: ordo_malformation_syndrome {source="Orphanet:168796"} synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796] synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796] synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140] +xref: GARD:9846 {source="Orphanet:168796"} xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="Orphanet:168796/attributed", source="Orphanet:168796/ntbt"} xref: MESH:C535852 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} @@ -246446,12 +252333,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9846/heart-h id: MONDO:0012418 name: autosomal recessive nonsyndromic hearing loss 62 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." [DOID:0110514, PMID:16650082] +subset: gard_rare {source="GARD:22618"} synonym: "autosomal recessive deafness 62" NARROW [DOID:0110514] synonym: "autosomal recessive nonsyndromic deafness 62" NARROW [OMIM:610143] synonym: "autosomal recessive nonsyndromic deafness type 62" NARROW [DOID:0110514, MONDORULE:2] synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical, OMIM:610143, OMIM:genemap2] synonym: "DFNB62" NARROW ABBREVIATION [DOID:0110514, MONDO:Lexical, OMIM:610143] xref: DOID:0110514 {source="MONDO:equivalentTo"} +xref: GARD:22618 {source="OMIM:610143"} xref: ICD10CM:H90.3 {source="DOID:0110514"} xref: MESH:C565719 {source="MONDO:equivalentTo"} xref: OMIM:610143 {source="DOID:0110514", source="MONDO:equivalentTo"} @@ -246491,6 +252380,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012420 name: autosomal recessive nonsyndromic hearing loss 49 def: "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." [NCIT:C129024] +subset: gard_rare {source="GARD:22619"} synonym: "autosomal recessive deafness 49" NARROW [DOID:0110506] synonym: "autosomal recessive nonsyndromic deafness 49" NARROW CLINGEN_PREFERRED [OMIM:610153] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" NARROW [MONDO:design_pattern] @@ -246500,6 +252390,7 @@ synonym: "deafness, autosomal recessive type 49" NARROW [MONDORULE:2, OMIM:61015 synonym: "DFNB49" NARROW ABBREVIATION [DOID:0110506, MONDO:Lexical, OMIM:610153] synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110506 {source="MONDO:equivalentTo"} +xref: GARD:22619 {source="OMIM:610153"} xref: ICD10CM:H90.3 {source="DOID:0110506"} xref: MESH:C565717 {source="MONDO:equivalentTo"} xref: NCIT:C129024 {source="MONDO:equivalentTo"} @@ -246516,6 +252407,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012421 name: autosomal recessive nonsyndromic hearing loss 44 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22620"} synonym: "ADCY1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 44" NARROW [DOID:0110501] synonym: "autosomal recessive nonsyndromic deafness 44" NARROW [OMIM:610154] @@ -246525,6 +252417,7 @@ synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical, OMIM:610154, synonym: "deafness, autosomal recessive type 44" NARROW [MONDORULE:2, OMIM:610154] synonym: "DFNB44" NARROW ABBREVIATION [DOID:0110501, MONDO:Lexical, OMIM:610154] xref: DOID:0110501 {source="MONDO:equivalentTo"} +xref: GARD:22620 {source="OMIM:610154"} xref: ICD10CM:H90.3 {source="DOID:0110501"} xref: MESH:C565716 {source="MONDO:equivalentTo"} xref: OMIM:610154 {source="DOID:0110501", source="MONDO:equivalentTo"} @@ -246558,7 +252451,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012423 name: MORM syndrome def: "MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." [Orphanet:75858] -subset: gard_rare {source="GARD:0010121"} +subset: gard_rare {source="GARD:10121"} subset: ordo_disease {source="Orphanet:75858"} synonym: "intellectual disability, truncal obesity, retinal dystrophy and micropenis" RELATED [GARD:0010121] synonym: "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical, OMIM:610156] @@ -246569,6 +252462,7 @@ synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT DEPRECATED [Orphanet:75858] synonym: "MORM syndrome" EXACT [OMIM:610156] synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] +xref: GARD:10121 {source="Orphanet:75858"} xref: MESH:C536984 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: OMIM:610156 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"} @@ -246596,10 +252490,12 @@ is_obsolete: true [Term] id: MONDO:0012425 name: corneal dystrophy, fuchs endothelial, 2 +subset: gard_rare {source="GARD:18217"} synonym: "corneal dystrophy, Fuchs endothelial, 2" RELATED [MONDO:Lexical, OMIM:610158] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:610158] synonym: "Fcd1 locus" RELATED [OMIM:610158] synonym: "FECD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610158] +xref: GARD:18217 {source="OMIM:610158"} xref: MESH:C535479 {source="MONDO:equivalentTo"} xref: OMIM:610158 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:610158"} @@ -246611,6 +252507,7 @@ property_value: confidence "4.749999999999999" xsd:double id: MONDO:0012426 name: immunodeficiency 25 def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18294"} synonym: "CD247 severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CD3zeta deficiency" EXACT [MONDO:0000571] synonym: "IMD25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610163] @@ -246620,6 +252517,7 @@ synonym: "immunodeficiency type 25" EXACT [MONDORULE:2, OMIM:610163] synonym: "severe combined immunodeficiency (disease) caused by mutation in CD247" EXACT [] xref: DOID:0060007 {source="MONDO:equivalentTo"} xref: DOID:0111942 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:18294 {source="OMIM:610163"} xref: MESH:C565712 {source="MONDO:equivalentTo"} xref: OMIM:610163 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="OMIM:610163"} @@ -246636,6 +252534,7 @@ property_value: confidence "0.3333333333333337" xsd:double id: MONDO:0012427 name: Loeys-Dietz syndrome 2 def: "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." [NCIT:C114768] +subset: gard_rare {source="GARD:10586"} synonym: "aortic aneurysm, familial thoracic 3" RELATED [OMIM:610168] synonym: "LDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610168] synonym: "Loeys-Dietz syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610168] @@ -246646,6 +252545,7 @@ synonym: "Marfan syndrome, type II" RELATED [OMIM:610168] synonym: "Marfan syndrome, type II, formerly" RELATED [OMIM:610168] synonym: "TGFBR2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070234 {source="MONDO:equivalentTo"} +xref: GARD:10586 {source="OMIM:610168"} xref: MESH:C537783 {source="MONDO:equivalentTo"} xref: NCIT:C114768 {source="MONDO:equivalentTo"} xref: OMIM:610168 {source="MONDO:equivalentTo"} @@ -246678,12 +252578,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012429 name: Aicardi-Goutieres syndrome 2 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15472"} synonym: "AGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610181] synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, OMIM:610181] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1, OMIM:610181] synonym: "RNASEH2B Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RNASEH2B-related Aicardi-Goutieres syndrome" RELATED [GARD:0010894] +xref: GARD:15472 {source="OMIM:610181"} xref: NCIT:C165673 {source="MONDO:equivalentTo"} xref: OMIM:610181 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:610181"} @@ -246699,6 +252601,7 @@ property_value: confidence "0.5" xsd:double id: MONDO:0012430 name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15473"} synonym: "CAMRQ2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610185] synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2" RELATED [OMIM:610185] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" RELATED DEPRECATED [OMIM:610185] @@ -246708,6 +252611,7 @@ synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:610185] synonym: "dysequilibrium syndrome caused by mutation in WDR81" EXACT [MONDO:design_pattern] synonym: "WDR81 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15473 {source="OMIM:610185"} xref: MESH:C567656 {source="MONDO:equivalentTo"} xref: OMIM:610185 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:610185"} @@ -246722,11 +252626,13 @@ property_value: confidence "1.7625263157894744" xsd:double id: MONDO:0012431 name: diaphragmatic hernia 3 def: "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15474"} synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern] synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187] synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187] synonym: "DIH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610187] synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15474 {source="OMIM:610187"} xref: MESH:C565710 {source="MONDO:equivalentTo"} xref: OMIM:610187 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:610187"} @@ -246741,12 +252647,14 @@ property_value: confidence "0.4741109268472452" xsd:double id: MONDO:0012432 name: Joubert syndrome 5 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15475"} synonym: "CEP290 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS5" EXACT ABBREVIATION [DOID:0111000, MONDO:Lexical, OMIM:610188] synonym: "Joubert syndrome 5" EXACT [MONDO:Lexical, OMIM:610188] synonym: "Joubert syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 5" EXACT [DOID:0111000, MONDORULE:1, OMIM:610188] xref: DOID:0111000 {source="MONDO:equivalentTo"} +xref: GARD:15475 {source="OMIM:610188"} xref: MESH:C537688 {source="MONDO:equivalentTo"} xref: OMIM:610188 {source="MONDO:equivalentTo", source="DOID:0111000"} xref: Orphanet:2318 {source="OMIM:610188"} @@ -246763,12 +252671,14 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0012433 name: Senior-Loken syndrome 6 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15476"} synonym: "CEP290 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SENIOR-Loken syndrome 6" RELATED [OMIM:610189] synonym: "Senior-Loken syndrome 6" EXACT [MONDO:Lexical, OMIM:610189] synonym: "Senior-Loken syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1, OMIM:610189] synonym: "SLSN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610189] +xref: GARD:15476 {source="OMIM:610189"} xref: MESH:C565708 {source="MONDO:equivalentTo"} xref: OMIM:610189 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:610189"} @@ -246813,7 +252723,7 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0012435 name: 3-methylglutaconic aciduria type 5 def: "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." [Orphanet:66634] -subset: gard_rare +subset: gard_rare {source="GARD:12964"} subset: ordo_disease {source="Orphanet:66634"} synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344] @@ -246833,6 +252743,7 @@ synonym: "Mga, type 5" RELATED [OMIM:610198] synonym: "MGA5" EXACT ABBREVIATION [DOID:0110000, Orphanet:66634] synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198] xref: DOID:0110000 {source="MONDO:equivalentTo"} +xref: GARD:12964 {source="Orphanet:66634"} xref: ICD10CM:E71.1 {source="Orphanet:66634", source="Orphanet:66634/attributed", source="Orphanet:66634/ntbt", source="DOID:0110000"} xref: MESH:C565706 {source="MONDO:equivalentTo"} xref: NCIT:C173146 {source="MONDO:equivalentTo"} @@ -246854,6 +252765,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10344/3-meth id: MONDO:0012436 name: neonatal diabetes mellitus with congenital hypothyroidism def: "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" [Orphanet:79118] +subset: gard_rare {source="GARD:16699"} subset: ordo_disease {source="Orphanet:79118"} synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [OMIM:610199] synonym: "NDH" RELATED ABBREVIATION [OMIM:610199] @@ -246862,6 +252774,7 @@ synonym: "Ndh syndrome" RELATED [OMIM:610199] synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT CLINGEN_PREFERRED [] synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118] xref: DOID:0060638 {source="MONDO:equivalentTo"} +xref: GARD:16699 {source="Orphanet:79118"} xref: MESH:C565705 {source="MONDO:equivalentTo"} xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="Orphanet:79118/e", source="DOID:0060638"} xref: Orphanet:79118 {source="OMIM:610199", source="MONDO:equivalentTo", source="DOID:0060638"} @@ -246907,7 +252820,6 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0012438 name: pontocerebellar hypoplasia type 5 def: "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." [Orphanet:166068] -subset: gard_rare {source="GARD:0010709"} subset: ordo_malformation_syndrome {source="Orphanet:166068"} synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [Orphanet:166068] synonym: "olivopontocerebellar hypoplasia fetal-onset" RELATED [GARD:0010709] @@ -246929,6 +252841,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10709/pontoc [Term] id: MONDO:0012439 name: Alagille syndrome due to a NOTCH2 point mutation +subset: gard_rare {source="GARD:17252"} subset: ordo_etiological_subtype {source="Orphanet:261629"} synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical, OMIM:610205] synonym: "Alagille syndrome due to a NOTCH2 point mutation" EXACT CLINGEN_PREFERRED [] @@ -246937,6 +252850,7 @@ synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphan synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610205] synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629] synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629] +xref: GARD:17252 {source="Orphanet:261629"} xref: ICD10CM:Q44.7 {source="Orphanet:261629/attributed", source="Orphanet:261629/ntbt", source="Orphanet:261629"} xref: OMIM:610205 {source="Orphanet:261629", source="MONDO:equivalentTo", source="Orphanet:261629/e"} xref: Orphanet:261629 {source="MONDO:equivalentTo", source="OMIM:610205"} @@ -246974,6 +252888,7 @@ is_a: MONDO:0100246 {source="DC-OMIM:610209"} ! migraine with or without aura, s id: MONDO:0012442 name: autosomal recessive nonsyndromic hearing loss 66 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22621"} synonym: "autosomal recessive deafness 66" NARROW [DOID:0110517] synonym: "autosomal recessive nonsyndromic deafness 66" NARROW [OMIM:610212] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" NARROW [MONDO:design_pattern] @@ -246983,6 +252898,7 @@ synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical, OMIM:610212, synonym: "deafness, autosomal recessive type 66" NARROW [MONDORULE:2, OMIM:610212] synonym: "DFNB66" NARROW ABBREVIATION [DOID:0110517, MONDO:Lexical, OMIM:610212] xref: DOID:0110517 {source="MONDO:equivalentTo"} +xref: GARD:22621 {source="OMIM:610212"} xref: ICD10CM:H90.3 {source="DOID:0110517"} xref: MESH:C565701 {source="MONDO:equivalentTo"} xref: OMIM:610212 {source="MONDO:equivalentTo", source="DOID:0110517"} @@ -246997,9 +252913,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012443 name: aneurysm, intracranial berry, 4 +subset: gard_rare {source="GARD:18323"} synonym: "aneurysm, intracranial BERRY, 4" RELATED [MONDO:Lexical, OMIM:610213] synonym: "ANIB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610213] xref: DOID:0080967 {source="MONDO:equivalentTo"} +xref: GARD:18323 {source="OMIM:610213"} xref: MESH:C565700 {source="MONDO:equivalentTo"} xref: OMIM:610213 {source="MONDO:equivalentTo"} xref: UMLS:C1857749 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610213"} @@ -247010,6 +252928,7 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0012444 name: neurodegeneration with brain iron accumulation 2B comment: NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset. +subset: gard_rare {source="GARD:10688"} synonym: "atypical neuroaxonal dystrophy" RELATED [GARD:0010688] synonym: "early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline" RELATED [GARD:0010688] synonym: "Karak syndrome" RELATED [OMIM:610217] @@ -247022,6 +252941,7 @@ synonym: "neurodegeneration with brain iron accumulation type 2b" EXACT [DOID:01 synonym: "neurodegeneration with brain iron accumulation, Pla2G6-related" RELATED [OMIM:610217] synonym: "neurodegeneration with brain iron accumulation, Pla2g6-related" EXACT [DOID:0110736] xref: DOID:0110736 {source="MONDO:equivalentTo"} +xref: GARD:10688 {source="OMIM:610217"} xref: ICD10CM:G23.0 {source="DOID:0110736"} xref: OMIM:610217 {source="DOID:0110736", source="MONDO:equivalentTo"} xref: Orphanet:35069 {source="OMIM:610217"} @@ -247034,6 +252954,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012445 name: autosomal recessive nonsyndromic hearing loss 59 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22622"} synonym: "autosomal recessive deafness 59" NARROW [DOID:0110511] synonym: "autosomal recessive nonsyndromic deafness 59" NARROW CLINGEN_PREFERRED [OMIM:610220] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" NARROW [MONDO:design_pattern] @@ -247043,6 +252964,7 @@ synonym: "deafness, autosomal recessive type 59" NARROW [MONDORULE:2, OMIM:61022 synonym: "DFNB59" NARROW ABBREVIATION [DOID:0110511, MONDO:Lexical, OMIM:610220] synonym: "PJVK autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110511 {source="MONDO:equivalentTo"} +xref: GARD:22622 {source="OMIM:610220"} xref: ICD10CM:H90.3 {source="DOID:0110511"} xref: MESH:C565698 {source="MONDO:equivalentTo"} xref: OMIM:610220 {source="DOID:0110511", source="MONDO:equivalentTo"} @@ -247057,8 +252979,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012446 name: seborrhea-like dermatitis with psoriasiform elements +subset: gard_rare {source="GARD:17039"} subset: ordo_disease {source="Orphanet:168606"} synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227] +xref: GARD:17039 {source="Orphanet:168606"} xref: MESH:C565217 {source="MONDO:equivalentTo"} xref: OMIM:610227 {source="Orphanet:168606/e", source="MONDO:equivalentTo", source="Orphanet:168606"} xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"} @@ -247071,6 +252995,7 @@ property_value: confidence "4.277777777777778" xsd:double [Term] id: MONDO:0012447 name: synpolydactyly type 3 +subset: gard_rare {source="GARD:17360"} subset: ordo_clinical_subtype {source="Orphanet:295199"} synonym: "SD2, Malik type" EXACT [Orphanet:295199] synonym: "SD2c" EXACT [Orphanet:295199] @@ -247078,6 +253003,7 @@ synonym: "SPD, Malik type" EXACT [Orphanet:295199] synonym: "SPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610234, Orphanet:295199] synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234] synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199] +xref: GARD:17360 {source="Orphanet:295199"} xref: ICD10CM:Q70.0 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} xref: ICD10CM:Q70.2 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} xref: MESH:C565216 {source="MONDO:equivalentTo"} @@ -247112,11 +253038,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012449 name: spinocerebellar ataxia type 23 def: "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." [Orphanet:101108] +subset: gard_rare {source="GARD:9950"} subset: ordo_disease {source="Orphanet:101108"} synonym: "SCA23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610245, Orphanet:101108] synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245] synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245] xref: DOID:0050973 {source="MONDO:equivalentTo"} +xref: GARD:9950 {source="Orphanet:101108"} xref: ICD10CM:G11.2 {source="Orphanet:101108", source="Orphanet:101108/attributed", source="Orphanet:101108/ntbt"} xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} @@ -247132,11 +253060,13 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012450 name: spinocerebellar ataxia type 28 def: "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." [Orphanet:101109] +subset: gard_rare {source="GARD:9951"} subset: ordo_disease {source="Orphanet:101109"} synonym: "SCA28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610246, Orphanet:101109] synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246] synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246] xref: DOID:0050977 {source="MONDO:equivalentTo"} +xref: GARD:9951 {source="Orphanet:101109"} xref: ICD10CM:G11.1 {source="Orphanet:101109/attributed", source="Orphanet:101109/ntbt", source="Orphanet:101109"} xref: MESH:C537205 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="Orphanet:101109"} xref: OMIM:610246 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="DOID:0050977", source="Orphanet:101109"} @@ -247166,12 +253096,14 @@ property_value: confidence "1.094356261022928" xsd:double id: MONDO:0012452 name: autosomal recessive nonsyndromic hearing loss 65 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." [DOID:0110516, PMID:16596430] +subset: gard_rare {source="GARD:22623"} synonym: "autosomal recessive deafness 65" NARROW [DOID:0110516] synonym: "autosomal recessive nonsyndromic deafness 65" NARROW [OMIM:610248] synonym: "autosomal recessive nonsyndromic deafness type 65" NARROW [DOID:0110516, MONDORULE:2] synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical, OMIM:610248, OMIM:genemap2] synonym: "DFNB65" NARROW ABBREVIATION [DOID:0110516, MONDO:Lexical, OMIM:610248] xref: DOID:0110516 {source="MONDO:equivalentTo"} +xref: GARD:22623 {source="OMIM:610248"} xref: ICD10CM:H90.3 {source="DOID:0110516"} xref: MESH:C565211 {source="MONDO:equivalentTo"} xref: OMIM:610248 {source="DOID:0110516", source="MONDO:equivalentTo"} @@ -247184,6 +253116,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012453 name: hereditary spastic paraplegia 31 def: "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." [Orphanet:101011] +subset: gard_rare {source="GARD:10817"} subset: ordo_disease {source="Orphanet:101011"} synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782] @@ -247194,6 +253127,7 @@ synonym: "spastic paraplegia 31" RELATED [GARD:0010817] synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250] synonym: "SPG31" EXACT ABBREVIATION [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011] xref: DOID:0110782 {source="MONDO:equivalentTo"} +xref: GARD:10817 {source="Orphanet:101011"} xref: ICD10CM:G11.4 {source="Orphanet:101011", source="Orphanet:101011/attributed", source="Orphanet:101011/ntbt", source="DOID:0110782"} xref: MESH:C565210 {source="MONDO:equivalentTo"} xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="Orphanet:101011/e", source="DOID:0110782"} @@ -247210,7 +253144,6 @@ property_value: confidence "22.33333333333334" xsd:double id: MONDO:0012454 name: alcohol sensitivity, acute def: "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." [https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity] -subset: gard_rare {source="GARD:0012634"} synonym: "acute alcohol sensitivity" RELATED [GARD:0012634] synonym: "alcohol intolerance" RELATED [GARD:0012634] synonym: "alcohol sensitivity, acute" EXACT [OMIM:610251] @@ -247229,7 +253162,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12634/acute- id: MONDO:0012455 name: Kleefstra syndrome def: "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." [Orphanet:261494] -subset: gard_rare {source="GARD:0008672"} +subset: gard_rare {source="GARD:8672"} subset: ordo_malformation_syndrome {source="Orphanet:261494"} subset: prototype_pattern synonym: "9Q subtelomeric deletion syndrome" EXACT [OMIM:610253] @@ -247242,6 +253175,7 @@ synonym: "chromosome 9q deletion syndrome" EXACT [GARD:0008672] synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [OMIM:610253] synonym: "Kleefstra syndrome" EXACT CLINGEN_PREFERRED [OMIM:610253] xref: DOID:0080597 {source="MONDO:equivalentTo"} +xref: GARD:8672 {source="Orphanet:261494"} xref: ICD10CM:Q87.8 {source="Orphanet:261494/attributed", source="Orphanet:261494/ntbt", source="Orphanet:261494"} xref: OMIMPS:610253 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"} @@ -247257,6 +253191,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8672/kleefst id: MONDO:0012456 name: congenital primary aphakia def: "Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." [Orphanet:83461] +subset: gard_rare {source="GARD:9952"} subset: ordo_malformation_syndrome {source="Orphanet:83461"} synonym: "anterior segment dysgenesis 2" RELATED [OMIM:610256] synonym: "anterior segment dysgenesis 2, multiple subtypes" EXACT [OMIM:610256, OMIM:genemap2] @@ -247267,6 +253202,7 @@ synonym: "congenital aphakia" EXACT [Orphanet:83461] synonym: "CPA" RELATED ABBREVIATION [OMIM:610256] xref: DOID:0080607 {source="MONDO:equivalentTo"} xref: DOID:11367 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:9952 {source="Orphanet:83461"} xref: ICD10CM:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367", source="Orphanet:83461/specific"} xref: ICD9:743.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11367"} xref: MedDRA:10002947 {source="Orphanet:83461", source="Orphanet:83461/e"} @@ -247333,6 +253269,7 @@ id: MONDO:0012460 name: autosomal recessive nonsyndromic hearing loss 67 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22624"} synonym: "autosomal recessive deafness 67" NARROW [DOID:0110518] synonym: "autosomal recessive nonsyndromic deafness 67" NARROW CLINGEN_PREFERRED [OMIM:610265] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" NARROW [MONDO:design_pattern] @@ -247342,6 +253279,7 @@ synonym: "deafness, autosomal recessive type 67" NARROW [MONDORULE:2, OMIM:61026 synonym: "DFNB67" NARROW ABBREVIATION [DOID:0110518, MONDO:Lexical, OMIM:610265] synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110518 {source="MONDO:equivalentTo"} +xref: GARD:22624 {source="OMIM:610265"} xref: ICD10CM:H90.3 {source="DOID:0110518"} xref: MESH:C565207 {source="MONDO:equivalentTo"} xref: OMIM:610265 {source="DOID:0110518", source="MONDO:equivalentTo"} @@ -247365,8 +253303,10 @@ replaced_by: MONDO:0011846 [Term] id: MONDO:0012462 name: autosomal recessive frontotemporal pachygyria +subset: gard_rare {source="GARD:21489"} subset: ordo_malformation_syndrome {source="Orphanet:329329"} synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279] +xref: GARD:21489 {source="Orphanet:329329"} xref: ICD10CM:Q04.3 {source="Orphanet:329329/attributed", source="Orphanet:329329/ntbt", source="Orphanet:329329"} xref: MESH:C538092 {source="MONDO:equivalentTo"} xref: OMIM:610279 {source="MONDO:equivalentTo"} @@ -247381,7 +253321,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012463 name: retinitis pigmentosa 35 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010402"} +subset: gard_rare {source="GARD:10402"} synonym: "retinitis pigmentosa 35" EXACT [MONDO:Lexical, OMIM:610282] synonym: "retinitis pigmentosa caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 35" EXACT [DOID:0110357, MONDORULE:2, OMIM:610282] @@ -247389,6 +253329,7 @@ synonym: "RP 35" RELATED [GARD:0010402] synonym: "RP35" EXACT ABBREVIATION [DOID:0110357, MONDO:Lexical, OMIM:610282] synonym: "SEMA4A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110357 {source="MONDO:equivalentTo"} +xref: GARD:10402 {source="OMIM:610282"} xref: ICD10CM:H35.5 {source="DOID:0110357", source="MONDO:relatedTo"} xref: MESH:C565206 {source="MONDO:equivalentTo"} xref: OMIM:610282 {source="DOID:0110357", source="MONDO:equivalentTo"} @@ -247404,12 +253345,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10402/retini id: MONDO:0012464 name: cone-rod dystrophy 10 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15477"} synonym: "cone-rod dystrophy 10" EXACT [MONDO:Lexical, OMIM:610283] synonym: "cone-rod dystrophy caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 10" EXACT [DOID:0111017, MONDORULE:2, OMIM:610283] synonym: "CORD10" EXACT ABBREVIATION [DOID:0111017, MONDO:Lexical, OMIM:610283] synonym: "SEMA4A cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111017 {source="MONDO:equivalentTo"} +xref: GARD:15477 {source="OMIM:610283"} xref: MESH:C564597 {source="MONDO:equivalentTo"} xref: OMIM:610283 {source="DOID:0111017", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:610283"} @@ -247423,7 +253366,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012465 name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency def: "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." [Orphanet:83639] -subset: gard_rare {source="GARD:0009965"} +subset: gard_rare {source="GARD:9965"} subset: ordo_disease {source="Orphanet:83639"} synonym: "congenital disorder of glycosylation due to PIGM deficiency" RELATED [GARD:0009965] synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [OMIM:610293] @@ -247431,6 +253374,7 @@ synonym: "glycosylphosphatidylinositol deficiency" RELATED [OMIM:610293] synonym: "GPI deficiency" RELATED [OMIM:610293] synonym: "GPID" RELATED ABBREVIATION [OMIM:610293] synonym: "PIGM-CDG" EXACT [Orphanet:83639] +xref: GARD:9965 {source="Orphanet:83639"} xref: ICD10CM:E88.8 {source="Orphanet:83639/attributed", source="Orphanet:83639/ntbt", source="Orphanet:83639"} xref: OMIM:610293 {source="Orphanet:83639/e", source="MONDO:equivalentTo", source="Orphanet:83639"} xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"} @@ -247450,6 +253394,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9965/hyperco id: MONDO:0012466 name: Parkinson disease 13, autosomal dominant, susceptibility to def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18608"} subset: predisposition synonym: "HTRA2 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PARK13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610297] @@ -247457,6 +253402,7 @@ synonym: "Parkinson disease 13" EXACT [OMIM:610297, OMIM:genemap2] synonym: "Parkinson disease 13, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:610297] synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [OMIM:610297] synonym: "young-onset Parkinson disease caused by mutation in HTRA2" EXACT [MONDO:design_pattern] +xref: GARD:18608 {source="OMIM:610297"} xref: MESH:C565204 {source="MONDO:equivalentTo"} xref: OMIM:610297 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:610297"} @@ -247472,6 +253418,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012467 name: cold-induced sweating syndrome 2 def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18277"} synonym: "CISS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610313] synonym: "CLCF1 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cold-induced sweating syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610313] @@ -247480,6 +253427,7 @@ synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1, OMIM:610313 synonym: "CRISPONI/cold-induced sweating syndrome 2" RELATED [OMIM:610313] synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [OMIM:610313] xref: DOID:0080330 {source="MONDO:equivalentTo"} +xref: GARD:18277 {source="OMIM:610313"} xref: MESH:C564791 {source="MONDO:equivalentTo"} xref: OMIM:610313 {source="DOID:0080330", source="MONDO:equivalentTo"} xref: Orphanet:157820 {source="OMIM:610313"} @@ -247493,7 +253441,6 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0012468 name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa -subset: gard_rare {source="GARD:0009968"} synonym: "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" EXACT [OMIM:610319] xref: MESH:C537610 {source="MONDO:equivalentTo"} xref: OMIM:610319 {source="MONDO:equivalentTo"} @@ -247515,9 +253462,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012470 name: prostate cancer, hereditary, 7 +subset: gard_rare {source="GARD:15478"} synonym: "HPC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610321] synonym: "prostate cancer aggressiveness" RELATED [OMIM:610321] synonym: "prostate cancer, hereditary, 7" EXACT [MONDO:Lexical, OMIM:610321] +xref: GARD:15478 {source="OMIM:610321"} xref: MESH:C565201 {source="MONDO:equivalentTo"} xref: OMIM:610321 {source="MONDO:equivalentTo"} xref: UMLS:C1853195 {source="OMIM:610321", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -247529,12 +253478,14 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012471 name: Aicardi-Goutieres syndrome 3 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15479"} synonym: "AGS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610329] synonym: "Aicardi-Goutieres syndrome 3" EXACT [MONDO:Lexical, OMIM:610329] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1, OMIM:610329] synonym: "RNASEH2C -related Aicardi-Goutieres syndrome" RELATED [GARD:0010895] synonym: "RNASEH2C Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15479 {source="OMIM:610329"} xref: MESH:C563683 {source="MONDO:equivalentTo"} xref: OMIM:610329 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:610329"} @@ -247550,12 +253501,14 @@ property_value: confidence "0.5" xsd:double id: MONDO:0012472 name: Aicardi-Goutieres syndrome 4 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15480"} synonym: "AGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610333] synonym: "Aicardi-Goutieres syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610333] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1, OMIM:610333] synonym: "RNASEH2A Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RNASEH2A-related Aicardi-Goutieres syndrome" RELATED [GARD:0010896] +xref: GARD:15480 {source="OMIM:610333"} xref: MESH:C563681 {source="MONDO:equivalentTo"} xref: OMIM:610333 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:610333"} @@ -247570,7 +253523,6 @@ property_value: confidence "0.5" xsd:double [Term] id: MONDO:0012473 name: right pulmonary artery, anomalous origin of, familial -subset: gard_rare {source="GARD:0010146"} synonym: "anomalous origin of right pulmonary artery familial" RELATED [GARD:0010146] synonym: "ARPA familial" RELATED [GARD:0010146] synonym: "Arpa, familial" RELATED [OMIM:610338] @@ -247588,6 +253540,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10146/anomal id: MONDO:0012474 name: autosomal dominant nocturnal frontal lobe epilepsy 4 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15481"} synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [DOID:0060685, MONDORULE:1] synonym: "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -247600,6 +253553,7 @@ synonym: "nocturnal frontal lobe epilepsy 4" EXACT [DOID:0060685] synonym: "seizures, benign familial infantile, 6" RELATED [OMIM:610353] xref: DOID:0060685 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081119 {source="MONDO:equivalentTo"} +xref: GARD:15481 {source="OMIM:610353"} xref: MESH:C563679 {source="MONDO:equivalentTo"} xref: OMIM:610353 {source="DOID:0060685", source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="OMIM:610353"} @@ -247615,6 +253569,7 @@ property_value: confidence "4.0" xsd:double id: MONDO:0012475 name: cone dystrophy with supernormal rod response def: "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." [Orphanet:209932] +subset: gard_rare {source="GARD:10649"} subset: ordo_disease {source="Orphanet:209932"} synonym: "cone dystrophy with night blindness and supernormal rod responses KCNV2 related" RELATED [GARD:0010649] synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [OMIM:610356] @@ -247627,6 +253582,7 @@ synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356] xref: DOID:0081022 {source="MONDO:equivalentTo"} +xref: GARD:10649 {source="Orphanet:209932"} xref: ICD10CM:H35.5 {source="Orphanet:209932/attributed", source="Orphanet:209932/ntbt", source="Orphanet:209932"} xref: MESH:C563678 {source="MONDO:equivalentTo"} xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", source="Orphanet:209932"} @@ -247642,6 +253598,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0012476 name: hereditary spastic paraplegia 30 def: "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." [Orphanet:101010] +subset: gard_rare {source="GARD:16942"} subset: ordo_disease {source="Orphanet:101010"} synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781] synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781] @@ -247652,6 +253609,7 @@ synonym: "spastic paraplegia 30, autosomal dominant" EXACT [OMIM:610357, OMIM:ge synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357] synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010] xref: DOID:0110781 {source="MONDO:equivalentTo"} +xref: GARD:16942 {source="Orphanet:101010"} xref: ICD10CM:G11.4 {source="Orphanet:101010/attributed", source="Orphanet:101010/ntbt", source="DOID:0110781", source="Orphanet:101010"} xref: MESH:C563677 {source="MONDO:equivalentTo"} xref: OMIM:610357 {source="Orphanet:101010/e", source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010"} @@ -247670,7 +253628,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012477 name: retinitis pigmentosa 33 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010400"} +subset: gard_rare {source="GARD:10400"} synonym: "retinitis pigmentosa 33" EXACT [MONDO:Lexical, OMIM:610359] synonym: "retinitis pigmentosa caused by mutation in SNRNP200" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 33" EXACT [DOID:0110366, MONDORULE:2, OMIM:610359] @@ -247678,6 +253636,7 @@ synonym: "RP 33" RELATED [GARD:0010400] synonym: "RP33" EXACT ABBREVIATION [DOID:0110366, MONDO:Lexical, OMIM:610359] synonym: "SNRNP200 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110366 {source="MONDO:equivalentTo"} +xref: GARD:10400 {source="OMIM:610359"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110366"} xref: MESH:C563676 {source="MONDO:equivalentTo"} xref: OMIM:610359 {source="MONDO:equivalentTo", source="DOID:0110366"} @@ -247710,6 +253669,7 @@ property_value: confidence "1.7876687750502525" xsd:double id: MONDO:0012479 name: congenital malabsorptive diarrhea 4 def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620] +subset: gard_rare {source="GARD:16729"} subset: ordo_disease {source="Orphanet:83620"} synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern] synonym: "congenital diarrhoea caused by mutation in NEUROG3" EXACT OMO:0003005 [] @@ -247724,6 +253684,7 @@ synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:836 synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEUROG3 congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060779 {source="MONDO:equivalentTo"} +xref: GARD:16729 {source="Orphanet:83620"} xref: ICD10CM:P78.3 {source="Orphanet:83620/attributed", source="Orphanet:83620/ntbt", source="Orphanet:83620", source="DOID:0060779"} xref: MESH:C563673 {source="MONDO:equivalentTo"} xref: OMIM:610370 {source="Orphanet:83620", source="MONDO:equivalentTo", source="Orphanet:83620/e", source="DOID:0060779"} @@ -247742,12 +253703,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012480 name: diabetes mellitus, transient neonatal, 2 def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15482"} synonym: "ABCC8 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "diabetes mellitus, transient neonatal 2" EXACT [OMIM:610374, OMIM:genemap2] synonym: "diabetes mellitus, transient neonatal, 2" EXACT [OMIM:610374] synonym: "diabetes mellitus, transient neonatal, type 2" EXACT [MONDORULE:1, OMIM:610374] synonym: "Tndm2" RELATED [OMIM:610374] synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8" EXACT [] +xref: GARD:15482 {source="OMIM:610374"} xref: MESH:C563672 {source="MONDO:equivalentTo"} xref: OMIM:610374 {source="MONDO:equivalentTo"} xref: Orphanet:99886 {source="OMIM:610374"} @@ -247764,7 +253727,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012481 name: mevalonic aciduria def: "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." [Orphanet:29] -subset: gard_rare {source="GARD:0003588"} +subset: gard_rare {source="GARD:3588"} subset: ordo_disease {source="Orphanet:29"} synonym: "complete mevalonate kinase deficiency" EXACT [Orphanet:29] synonym: "HIDS" EXACT ABBREVIATION [NCIT:C84890] @@ -247776,6 +253739,7 @@ synonym: "Mevalonicaciduria" RELATED [GARD:0003588] synonym: "MKD" EXACT ABBREVIATION [NCIT:C84890] synonym: "MVA" EXACT ABBREVIATION [Orphanet:29] xref: DOID:0050452 {source="MONDO:equivalentTo"} +xref: GARD:3588 {source="Orphanet:29"} xref: ICD10CM:E88.8 {source="Orphanet:29", source="Orphanet:29/attributed", source="Orphanet:29/ntbt"} xref: MedDRA:10072219 {source="Orphanet:29", source="Orphanet:29/e"} xref: MESH:D054078 {source="DOID:0050452", source="Orphanet:29", source="Orphanet:29/e"} @@ -247800,9 +253764,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3588/mevalon [Term] id: MONDO:0012482 name: West Nile virus, susceptibility to +subset: gard_rare {source="GARD:15483"} subset: predisposition synonym: "West Nile virus, susceptibility to" EXACT [OMIM:610379] synonym: "WNV, susceptibility to" RELATED [OMIM:610379] +xref: GARD:15483 {source="OMIM:610379"} xref: OMIM:610379 {source="MONDO:equivalentTo"} xref: UMLS:C1835867 {source="OMIM:610379", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020573 {source="OMIM:610379", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility @@ -247816,12 +253782,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012483 name: cone-rod dystrophy 11 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15484"} synonym: "cone-rod dystrophy 11" EXACT [MONDO:Lexical, OMIM:610381] synonym: "cone-rod dystrophy caused by mutation in RAX2" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 11" EXACT [DOID:0111018, MONDORULE:2, OMIM:610381] synonym: "CORD11" EXACT ABBREVIATION [DOID:0111018, MONDO:Lexical, OMIM:610381] synonym: "RAX2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111018 {source="MONDO:equivalentTo"} +xref: GARD:15484 {source="OMIM:610381"} xref: MESH:C563671 {source="MONDO:equivalentTo"} xref: OMIM:610381 {source="DOID:0111018", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:610381"} @@ -247853,6 +253821,7 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0012485 name: autosomal recessive nonsyndromic hearing loss 68 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22625"} synonym: "autosomal recessive deafness 68" NARROW [DOID:0110519] synonym: "autosomal recessive nonsyndromic deafness 68" NARROW CLINGEN_PREFERRED [OMIM:610419] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" NARROW [MONDO:design_pattern] @@ -247861,6 +253830,7 @@ synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical, OMIM:610419, synonym: "DFNB68" NARROW ABBREVIATION [DOID:0110519, MONDO:Lexical, OMIM:610419] synonym: "S1PR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110519 {source="MONDO:equivalentTo"} +xref: GARD:22625 {source="OMIM:610419"} xref: ICD10CM:H90.3 {source="DOID:0110519"} xref: MESH:C563669 {source="MONDO:equivalentTo"} xref: OMIM:610419 {source="MONDO:equivalentTo", source="DOID:0110519"} @@ -247886,6 +253856,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012487 name: alopecia-intellectual disability syndrome 2 +subset: gard_rare {source="GARD:4291"} synonym: "alopecia intellectual disability syndrome 2" RELATED [GARD:0004291] synonym: "alopecia with mild to moderate intellectual deficit" RELATED [GARD:0004291] synonym: "alopecia-intellectual disability syndrome 2" EXACT [MONDO:Lexical, OMIM:610422] @@ -247893,6 +253864,7 @@ synonym: "alopecia-mental retardation syndrome 2" EXACT DEPRECATED [MONDO:Lexica synonym: "AMR syndrome 2" RELATED [GARD:0004291] synonym: "APMR2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610422] xref: DOID:0080629 {source="MONDO:equivalentTo"} +xref: GARD:4291 {source="OMIM:610422"} xref: MESH:C563668 {source="MONDO:equivalentTo"} xref: OMIM:610422 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:610422"} @@ -247948,12 +253920,14 @@ property_value: confidence "3.3019579861886594" xsd:double [Term] id: MONDO:0012490 name: cone-rod synaptic disorder, congenital nonprogressive +subset: gard_rare {source="GARD:15485"} synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610427] synonym: "CRSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610427] synonym: "night blindness, congenital stationary, incomplete, autosomal recessive" RELATED [OMIM:610427] synonym: "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" RELATED [OMIM:610427] synonym: "night blindness, congenital stationary, type 2B" RELATED [OMIM:610427] synonym: "night blindness, congenital stationary, type 2B, formerly" RELATED [OMIM:610427] +xref: GARD:15485 {source="OMIM:610427"} xref: OMIM:610427 {source="MONDO:equivalentTo"} xref: Orphanet:215 {source="OMIM:610427"} xref: UMLS:C1864877 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610427"} @@ -247965,9 +253939,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012491 name: macroglobulinemia, Waldenstrom, 2 +subset: gard_rare {source="GARD:15486"} subset: predisposition synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:610430] synonym: "WM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610430] +xref: GARD:15486 {source="OMIM:610430"} xref: OMIM:610430 {source="MONDO:equivalentTo"} xref: Orphanet:33226 {source="OMIM:610430"} xref: UMLS:C1864876 {source="OMIM:610430", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -248022,6 +253998,7 @@ property_value: IAO:0000589 "testicular microlithiasis (disease)" xsd:string id: MONDO:0012495 name: spondyloepimetaphyseal dysplasia, Genevieve type def: "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." [https://orcid.org/0000-0001-5208-3432, Orphanet:168454] +subset: gard_rare {source="GARD:10057"} subset: ordo_disease {source="Orphanet:168454"} synonym: "Nans deficiency" RELATED [OMIM:610442] synonym: "SEMD Genevieve type" RELATED [GARD:0010057] @@ -248033,6 +254010,7 @@ synonym: "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" EXACT [OMIM:6 synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [OMIM:610442] synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454] xref: DOID:0080576 {source="MONDO:equivalentTo"} +xref: GARD:10057 {source="Orphanet:168454"} xref: ICD10CM:Q77.7 {source="Orphanet:168454/attributed", source="Orphanet:168454/ntbt", source="Orphanet:168454"} xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} @@ -248051,6 +254029,7 @@ id: MONDO:0012496 name: Koolen-de Vries syndrome def: "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." [Orphanet:96169] comment: Editor note: DOID classifies as non-syndromic but we classify as syndromic +subset: gard_rare {source="GARD:10727"} subset: ordo_malformation_syndrome {source="Orphanet:96169"} synonym: "17q21.31 deletion syndrome" RELATED [GARD:0010727] synonym: "17q21.31 microdeletion syndrome" RELATED EXCLUDE [DOID:0050880] @@ -248067,6 +254046,7 @@ synonym: "microdeletion 17Q21.31 syndrome" RELATED [OMIM:610443] synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076] xref: DOID:0050880 xref: DOID:0070076 +xref: GARD:10727 {source="Orphanet:96169"} xref: ICD10CM:Q93.5 {source="Orphanet:96169", source="Orphanet:96169/attributed", source="Orphanet:96169/ntbt"} xref: MESH:C566476 {source="https://github.com/monarch-initiative/mondo/issues/4174", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="Orphanet:96169", source="MONDO:equivalentTo", source="Orphanet:96169/e"} @@ -248083,6 +254063,7 @@ property_value: confidence "1.0000000000000004" xsd:double id: MONDO:0012497 name: congenital stationary night blindness autosomal dominant 3 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110715, PMID:8673138] +subset: gard_rare {source="GARD:15487"} synonym: "congenital stationary night blindness autosomal dominant type 3" EXACT [DOID:0110715, MONDORULE:1] synonym: "CSNBAD3" EXACT ABBREVIATION [DOID:0110715, MONDO:Lexical, OMIM:610444] synonym: "night blindness, congenital stationary, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:610444] @@ -248090,6 +254071,7 @@ synonym: "night blindness, congenital stationary, autosomal dominant type 3" EXA synonym: "night blindness, congenital stationary, Nougaret type" RELATED [OMIM:610444] synonym: "Nougaret type congenital stationary night blindness" EXACT [DOID:0110715] xref: DOID:0110715 {source="MONDO:equivalentTo"} +xref: GARD:15487 {source="OMIM:610444"} xref: MESH:C566475 {source="MONDO:equivalentTo"} xref: OMIM:610444 {source="MONDO:equivalentTo", source="DOID:0110715"} xref: UMLS:C1864870 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610444"} @@ -248105,6 +254087,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012498 name: congenital stationary night blindness autosomal dominant 1 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15488"} synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [DOID:0110862, MONDORULE:1] synonym: "congenital stationary night blindness caused by mutation in RHO" EXACT [MONDO:design_pattern] synonym: "CSNBAD1" EXACT ABBREVIATION [DOID:0110862, MONDO:Lexical, OMIM:610445] @@ -248114,6 +254097,7 @@ synonym: "night blindness, congenital stationary, rhodopsin-related" RELATED [OM synonym: "RHO congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [DOID:0110862] xref: DOID:0110862 {source="MONDO:equivalentTo"} +xref: GARD:15488 {source="OMIM:610445"} xref: MESH:C566474 {source="MONDO:equivalentTo"} xref: OMIM:610445 {source="MONDO:equivalentTo", source="DOID:0110862"} xref: UMLS:C1864869 {source="MONDO:equivalentTo", source="OMIM:610445", source="MONDO:ncbi_mim2gene_medline"} @@ -248143,12 +254127,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012500 name: chilblain lupus 1 def: "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18493"} synonym: "CHBL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610448] synonym: "chilblain lupus" BROAD [OMIM:610448, OMIM:genemap2] synonym: "chilblain lupus 1" EXACT [MONDO:Lexical, OMIM:610448] synonym: "chilblain lupus caused by mutation in TREX1" EXACT [MONDO:design_pattern] synonym: "chilblain lupus type 1" EXACT [MONDORULE:1, OMIM:610448] synonym: "TREX1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18493 {source="OMIM:610448"} xref: OMIM:610448 {source="MONDO:equivalentTo"} xref: Orphanet:90280 {source="OMIM:610448"} xref: UMLS:C3277619 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610448"} @@ -248164,7 +254150,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012501 name: obsolete mutagen sensitivity comment: Reason: out of scope. Term to consider: None -subset: gard_rare {source="GARD:0008273"} synonym: "mutagen sensitivity" EXACT [OMIM:610452] xref: OMIM:610452 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1864867 {source="OMIM:610452", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -248175,7 +254160,7 @@ is_obsolete: true [Term] id: MONDO:0012502 name: normophosphatemic familial tumoral calcinosis -subset: gard_rare {source="GARD:0010878"} +subset: gard_rare {source="GARD:10878"} subset: ordo_clinical_subtype {source="Orphanet:306658"} synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [OMIM:610455] synonym: "familial normophosphatemic tumoral calcinosis" RELATED [Orphanet:306658] @@ -248184,6 +254169,7 @@ synonym: "normophosphatemic familial tumoral calcinosis" EXACT CLINGEN_PREFERRED synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [OMIM:610455, OMIM:genemap2] synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455] xref: DOID:0080170 {source="MONDO:equivalentTo"} +xref: GARD:10878 {source="Orphanet:306658"} xref: ICD10CM:M11.2 {source="Orphanet:306658/attributed", source="Orphanet:306658/ntbt", source="Orphanet:306658"} xref: MESH:C566473 {source="MONDO:equivalentTo"} xref: OMIM:610455 {source="Orphanet:306658", source="MONDO:equivalentTo", source="Orphanet:306658/e", source="DOID:0080170"} @@ -248232,12 +254218,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012504 name: camptodactyly-tall stature-scoliosis-hearing loss syndrome def: "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." [Orphanet:85164] -subset: gard_rare +subset: gard_rare {source="GARD:10012"} subset: ordo_disease {source="Orphanet:85164"} synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [OMIM:610474] synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orphanet:85164] synonym: "CATSHLS" RELATED ABBREVIATION [OMIM:610474] xref: DOID:0111160 {source="MONDO:equivalentTo"} +xref: GARD:10012 {source="Orphanet:85164"} xref: ICD10CM:Q87.2 {source="Orphanet:85164/attributed", source="Orphanet:85164/ntbt", source="Orphanet:85164"} xref: MESH:C537975 {source="MONDO:equivalentTo"} xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="Orphanet:85164/e", source="MONDO:equivalentTo", source="Orphanet:85164"} @@ -248253,6 +254240,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012505 name: pigmented nodular adrenocortical disease, primary, 2 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15489"} synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [OMIM:610475] synonym: "PDE11A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [OMIM:610475] @@ -248260,6 +254248,7 @@ synonym: "pigmented nodular adrenocortical disease, primary, 2" EXACT [MONDO:Lex synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1, OMIM:610475] synonym: "PPNAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610475] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" EXACT [MONDO:design_pattern] +xref: GARD:15489 {source="OMIM:610475"} xref: MESH:C566472 {source="MONDO:equivalentTo"} xref: OMIM:610475 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:610475"} @@ -248309,13 +254298,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012507 name: retinal cone dystrophy 4 def: "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010650"} +subset: gard_rare {source="GARD:10650"} synonym: "CACNA2D4 cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone dystrophy caused by mutation in CACNA2D4" EXACT [MONDO:design_pattern] synonym: "RCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610478] synonym: "retinal cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:610478] synonym: "retinal cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:610478] xref: DOID:0081023 {source="MONDO:equivalentTo"} +xref: GARD:10650 {source="OMIM:610478"} xref: MESH:C566470 {source="MONDO:equivalentTo"} xref: OMIM:610478 {source="MONDO:equivalentTo"} xref: UMLS:C1864849 {source="MONDO:equivalentTo", source="OMIM:610478", source="MONDO:ncbi_mim2gene_medline"} @@ -248331,8 +254321,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10650/retina id: MONDO:0012508 name: agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome def: "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." [Orphanet:83617] +subset: gard_rare {source="GARD:10011"} subset: ordo_malformation_syndrome {source="Orphanet:83617"} synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483] +xref: GARD:10011 {source="Orphanet:83617"} xref: ICD10CM:Q87.0 {source="Orphanet:83617/attributed", source="Orphanet:83617/ntbt", source="Orphanet:83617"} xref: MESH:C538055 {source="MONDO:equivalentTo"} xref: OMIM:610483 {source="Orphanet:83617/e", source="MONDO:equivalentTo", source="Orphanet:83617"} @@ -248353,6 +254345,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012509 name: pigmented nodular adrenocortical disease, primary, 1 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18620"} synonym: "adrenocortical nodular dysplasia, primary" RELATED [OMIM:610489] synonym: "Cushing syndrome, adrenal, due to PPNAD1" RELATED [OMIM:610489] synonym: "pigmented micronodular adrenocortical disease, primary, 1" RELATED [OMIM:610489] @@ -248361,6 +254354,7 @@ synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MOND synonym: "PPNAD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610489] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "PRKAR1A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18620 {source="OMIM:610489"} xref: MESH:C566469 {source="MONDO:equivalentTo"} xref: OMIM:610489 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:610489"} @@ -248375,6 +254369,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0012510 name: combined oxidative phosphorylation defect type 2 def: "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." [Orphanet:254920] +subset: gard_rare {source="GARD:17232"} subset: ordo_disease {source="Orphanet:254920"} synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern] @@ -248383,6 +254378,7 @@ synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidos synonym: "COXPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610498, Orphanet:254920] synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111483 {source="MONDO:equivalentTo"} +xref: GARD:17232 {source="Orphanet:254920"} xref: ICD10CM:E88.8 {source="Orphanet:254920", source="Orphanet:254920/attributed", source="Orphanet:254920/ntbt"} xref: MESH:C566468 {source="MONDO:equivalentTo"} xref: OMIM:610498 {source="MONDO:equivalentTo", source="Orphanet:254920", source="Orphanet:254920/e"} @@ -248418,6 +254414,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012512 name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 def: "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." [Orphanet:168566] +subset: gard_rare {source="GARD:17035"} subset: ordo_disease {source="Orphanet:168566"} synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern] @@ -248428,6 +254425,7 @@ synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [ synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566] synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111486 {source="MONDO:equivalentTo"} +xref: GARD:17035 {source="Orphanet:168566"} xref: ICD10CM:E88.8 {source="Orphanet:168566/attributed", source="Orphanet:168566/ntbt", source="Orphanet:168566"} xref: MESH:C566467 {source="MONDO:equivalentTo"} xref: OMIM:610505 {source="Orphanet:168566", source="MONDO:equivalentTo", source="Orphanet:168566/e"} @@ -248445,7 +254443,7 @@ property_value: confidence "2.941176470588235" xsd:double id: MONDO:0012513 name: maturity-onset diabetes of the young type 7 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010661"} +subset: gard_rare {source="GARD:10661"} synonym: "diabetes mellitus MODY type 7" RELATED [GARD:0010661] synonym: "KLF11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KLF11" EXACT [] @@ -248456,6 +254454,7 @@ synonym: "MODY type 7" RELATED [GARD:0010661] synonym: "MODY7" EXACT ABBREVIATION [DOID:0111106, MONDO:Lexical, OMIM:610508] synonym: "type 7 maturity-onset diabetes of the young" RELATED [GARD:0010661] xref: DOID:0111106 {source="MONDO:equivalentTo"} +xref: GARD:10661 {source="OMIM:610508"} xref: MESH:C566466 {source="MONDO:equivalentTo"} xref: OMIM:610508 {source="DOID:0111106", source="MONDO:equivalentTo"} xref: Orphanet:552 {source="OMIM:610508"} @@ -248473,6 +254472,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10661/maturi id: MONDO:0012514 name: hypomyelinating leukodystrophy 5 def: "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." [Orphanet:85163] +subset: gard_rare {source="GARD:11980"} subset: ordo_malformation_syndrome {source="Orphanet:85163"} synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD5" EXACT ABBREVIATION [DOID:0060793, MONDO:Lexical, OMIM:610532] @@ -248485,6 +254485,7 @@ synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_patt synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532] synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532] xref: DOID:0060793 {source="MONDO:equivalentTo"} +xref: GARD:11980 {source="Orphanet:85163"} xref: ICD10CM:G37.8 {source="DOID:0060793", source="Orphanet:85163/attributed", source="Orphanet:85163/ntbt", source="Orphanet:85163"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567166 {source="MONDO:equivalentTo"} @@ -248505,9 +254506,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012515 name: glaucoma 1, open angle, M +subset: gard_rare {source="GARD:18230"} synonym: "glaucoma 1, open angle, M" EXACT [MONDO:Lexical, OMIM:610535] synonym: "GLC1M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610535] synonym: "JOAG1M" EXACT ABBREVIATION [] +xref: GARD:18230 {source="OMIM:610535"} xref: MESH:C566436 {source="MONDO:equivalentTo"} xref: OMIM:610535 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="OMIM:610535"} @@ -248519,6 +254522,7 @@ property_value: confidence "0.6519518666964457" xsd:double id: MONDO:0012516 name: mandibulofacial dysostosis-microcephaly syndrome def: "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." [Orphanet:79113] +subset: gard_rare {source="GARD:10056"} subset: ordo_malformation_syndrome {source="Orphanet:79113"} synonym: "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [OMIM:610536] synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED DEPRECATED [OMIM:610536] @@ -248531,6 +254535,7 @@ synonym: "MFDGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610536] synonym: "MFDM" RELATED ABBREVIATION [GARD:0010056] synonym: "MFDM syndrome" EXACT [Orphanet:79113] xref: DOID:0080196 {source="MONDO:equivalentTo"} +xref: GARD:10056 {source="Orphanet:79113"} xref: ICD10CM:Q87.0 {source="Orphanet:79113/attributed", source="Orphanet:79113/ntbt", source="Orphanet:79113"} xref: MESH:C537405 {source="MONDO:equivalentTo"} xref: OMIM:610536 {source="DOID:0080196", source="Orphanet:79113/e", source="MONDO:equivalentTo", source="Orphanet:79113"} @@ -248552,6 +254557,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012517 name: Gaucher disease due to saposin C deficiency def: "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12503"} subset: ordo_clinical_subtype {source="Orphanet:309252"} synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252] synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] @@ -248560,6 +254566,7 @@ synonym: "Gaucher disease, atypical" RELATED [GARD:0012503] synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539] synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110961 {source="MONDO:equivalentTo"} +xref: GARD:12503 {source="Orphanet:309252"} xref: ICD10CM:E75.2 {source="Orphanet:309252/attributed", source="Orphanet:309252/ntbt", source="Orphanet:309252", source="DOID:0110961"} xref: MESH:C566435 {source="MONDO:equivalentTo"} xref: OMIM:610539 {source="Orphanet:309252", source="MONDO:equivalentTo", source="Orphanet:309252/e", source="DOID:0110961"} @@ -248576,6 +254583,7 @@ id: MONDO:0012518 name: congenital myasthenic syndrome 12 def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." [MONDO:patterns/disease_series_by_gene] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:18451"} synonym: "CMS12" EXACT ABBREVIATION [DOID:0110660, MONDO:Lexical, OMIM:610542] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [DOID:0110660] synonym: "congenital myasthenic syndrome type 12" EXACT [DOID:0110660, MONDORULE:2] @@ -248586,6 +254594,7 @@ synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical, OMIM:6105 synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2, OMIM:610542] synonym: "myasthenic syndrome, congenital, with tubular aggregates 1" RELATED [OMIM:610542] xref: DOID:0110660 {source="MONDO:equivalentTo"} +xref: GARD:18451 {source="OMIM:610542"} xref: NCIT:C168997 {source="MONDO:equivalentTo"} xref: OMIM:610542 {source="MONDO:equivalentTo", source="DOID:0110660"} xref: Orphanet:353327 {source="OMIM:610542"} @@ -248602,13 +254611,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012519 name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion def: "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." [GARD:0010754] -subset: gard_rare +subset: gard_rare {source="GARD:10754"} subset: ordo_clinical_subtype {source="Orphanet:353281"} synonym: "16p13.3 deletion syndrome" RELATED [GARD:0010754] synonym: "chromosome 16p13.3 deletion syndrome" RELATED [OMIM:610543, OMIM:genemap2] synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543] synonym: "Rsts deletion syndrome" RELATED [OMIM:610543] synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543] +xref: GARD:10754 {source="Orphanet:353281"} xref: ICD10CM:Q87.2 {source="Orphanet:353281/attributed", source="Orphanet:353281/ntbt", source="Orphanet:353281"} xref: OMIM:610543 {source="Orphanet:353281/e", source="MONDO:equivalentTo", source="GARD:0010754", source="Orphanet:353281"} xref: Orphanet:353281 {source="MONDO:equivalentTo", source="OMIM:610543"} @@ -248628,6 +254638,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10754/chromo id: MONDO:0012520 name: insulin-resistance syndrome type A def: "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." [Orphanet:2297] +subset: gard_rare {source="GARD:3008"} subset: ordo_disease {source="Orphanet:2297"} synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [OMIM:610549] synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [OMIM:610549] @@ -248637,6 +254648,7 @@ synonym: "insulin-resistant acanthosis nigricans, type A" RELATED [GARD:0003008] synonym: "Iran, type a" RELATED [OMIM:610549] synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836] xref: EFO:1001503 {source="MONDO:equivalentTo"} +xref: GARD:3008 {source="Orphanet:2297"} xref: ICD10CM:E13 {source="Orphanet:2297", source="Orphanet:2297/attributed", source="Orphanet:2297/ntbt"} xref: MESH:C562710 {source="MONDO:equivalentTo"} xref: NCIT:C131836 {source="MONDO:equivalentTo"} @@ -248655,7 +254667,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012521 name: herpes simplex encephalitis def: "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." [Orphanet:1930] -subset: gard_rare {source="GARD:0006649"} +subset: gard_rare {source="GARD:6649"} subset: ordo_disease {source="Orphanet:1930"} synonym: "Herpes simplex meningo-encephalitis" EXACT [Orphanet:1930] synonym: "Herpes simplex neuroinvasion" EXACT [Orphanet:1930] @@ -248666,6 +254678,7 @@ synonym: "HSV encephalitis" EXACT [Orphanet:1930] synonym: "HSVE" EXACT ABBREVIATION [Orphanet:1930] synonym: "Simplexvirus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus infectious encephalitis" EXACT [] +xref: GARD:6649 {source="Orphanet:1930"} xref: ICD10EXP:B00.4+ {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} xref: ICD10EXP:G05.1* {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} xref: MESH:D020803 {source="MONDO:equivalentTo"} @@ -248687,6 +254700,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6649/herpes- id: MONDO:0012522 name: diabetes mellitus, transient neonatal, 3 def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15490"} synonym: "diabetes mellitus, transient neonatal 3" EXACT [OMIM:610582, OMIM:genemap2] synonym: "diabetes mellitus, transient neonatal, 3" EXACT [OMIM:610582] synonym: "diabetes mellitus, transient neonatal, type 3" EXACT [MONDORULE:1, OMIM:610582] @@ -248694,6 +254708,7 @@ synonym: "diabetes mellitus, type II, autosomal dominant" RELATED [OMIM:610582] synonym: "KCNJ11 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tndm3" RELATED [OMIM:610582] synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11" EXACT [] +xref: GARD:15490 {source="OMIM:610582"} xref: MESH:C566432 {source="MONDO:equivalentTo"} xref: OMIM:610582 {source="MONDO:equivalentTo"} xref: Orphanet:99886 {source="OMIM:610582"} @@ -248711,7 +254726,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012523 name: retinitis pigmentosa 36 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010403"} +subset: gard_rare {source="GARD:10403"} synonym: "PRCD retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 36" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610599] synonym: "retinitis pigmentosa caused by mutation in PRCD" EXACT [MONDO:design_pattern] @@ -248719,6 +254734,7 @@ synonym: "retinitis pigmentosa type 36" EXACT [DOID:0110405, MONDORULE:2, OMIM:6 synonym: "RP 36" RELATED [GARD:0010403] synonym: "RP36" EXACT ABBREVIATION [DOID:0110405, MONDO:Lexical, OMIM:610599] xref: DOID:0110405 {source="MONDO:equivalentTo"} +xref: GARD:10403 {source="OMIM:610599"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110405"} xref: MESH:C566431 {source="MONDO:equivalentTo"} xref: OMIM:610599 {source="DOID:0110405", source="MONDO:equivalentTo"} @@ -248753,7 +254769,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012525 name: Leber congenital amaurosis 12 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010489"} +subset: gard_rare {source="GARD:10489"} synonym: "amaurosis congenita of Leber, type 12" RELATED [GARD:0010489] synonym: "LCA12" EXACT ABBREVIATION [DOID:0110080, MONDO:Lexical, OMIM:610612] synonym: "Leber congenital amaurosis 12" EXACT [MONDO:Lexical, OMIM:610612] @@ -248761,6 +254777,7 @@ synonym: "Leber congenital amaurosis caused by mutation in RD3" EXACT [MONDO:des synonym: "Leber congenital amaurosis type 12" EXACT [DOID:0110080, MONDORULE:2, OMIM:610612] synonym: "RD3 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110080 {source="MONDO:equivalentTo"} +xref: GARD:10489 {source="OMIM:610612"} xref: ICD10CM:H35.5 {source="DOID:0110080", source="MONDO:relatedTo"} xref: MESH:C565697 {source="MONDO:equivalentTo"} xref: OMIM:610612 {source="DOID:0110080", source="MONDO:equivalentTo"} @@ -248777,6 +254794,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10489/leber- id: MONDO:0012526 name: hereditary angioedema type 3 def: "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100054] +subset: gard_rare {source="GARD:16935"} subset: ordo_etiological_subtype {source="Orphanet:100054"} synonym: "angioedema, hereditary, 3" EXACT [OMIM:610618, OMIM:genemap2] synonym: "angioedema, hereditary, type 3" RELATED [OMIM:610618] @@ -248802,6 +254820,7 @@ synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic oedema" EXACT OMO:0003005 [] xref: DOID:0080940 {source="MONDO:equivalentTo"} +xref: GARD:16935 {source="Orphanet:100054"} xref: ICD10CM:D84.1 {source="Orphanet:100054", source="Orphanet:100054/attributed", source="Orphanet:100054/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"} @@ -248853,7 +254872,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012528 name: hypogonadotropic hypogonadism 4 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:10772"} synonym: "HH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610628] synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [MONDO:Lexical, OMIM:610628] synonym: "hypogonadotropic hypogonadism caused by mutation in PROK2" EXACT [MONDO:design_pattern] @@ -248862,6 +254881,7 @@ synonym: "Kallman syndrome 4" NARROW [GARD:0010772, https://github.com/monarch-i synonym: "Kallmann syndrome 4" RELATED [GARD:0010772] synonym: "PROK2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090077 {source="MONDO:equivalentTo"} +xref: GARD:10772 {source="OMIM:610628"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090077"} xref: MESH:C565696 {source="MONDO:equivalentTo"} xref: OMIM:610628 {source="DOID:0090077", source="GARD:0010772", source="MONDO:equivalentTo"} @@ -248879,7 +254899,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10772/kallma id: MONDO:0012529 name: Diamond-Blackfan anemia 3 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010241"} +subset: gard_rare {source="GARD:10241"} synonym: "anaemia Diamond-Blackfan 3" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 3" RELATED [GARD:0010241] synonym: "DBA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610629] @@ -248891,6 +254911,7 @@ synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629] synonym: "RPS24 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111887 {source="MONDO:equivalentTo"} +xref: GARD:10241 {source="OMIM:610629"} xref: MESH:C536355 {source="MONDO:equivalentTo"} xref: NCIT:C176912 {source="MONDO:equivalentTo"} xref: OMIM:610629 {source="MONDO:equivalentTo"} @@ -248906,11 +254927,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10241/diamon id: MONDO:0012530 name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome def: "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown." [Orphanet:85112] +subset: gard_rare {source="GARD:16733"} subset: ordo_disease {source="Orphanet:85112"} synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:610644] synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644] synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [OMIM:610644, OMIM:genemap2] synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112] +xref: GARD:16733 {source="Orphanet:85112"} xref: ICD10CM:Q56.0 {source="Orphanet:85112", source="Orphanet:85112/attributed", source="Orphanet:85112/ntbt"} xref: MESH:C567165 {source="MONDO:equivalentTo"} xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="Orphanet:85112/e"} @@ -248928,7 +254951,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012531 name: xeroderma pigmentosum group B def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:5625"} synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651] synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern] @@ -248945,6 +254968,7 @@ synonym: "XPB" EXACT ABBREVIATION [DOID:0110850, MONDO:Lexical, OMIM:610651] synonym: "XPB/CS" RELATED [OMIM:610651] synonym: "XPBC" EXACT ABBREVIATION [DOID:0110850] xref: DOID:0110850 {source="MONDO:equivalentTo"} +xref: GARD:5625 {source="OMIM:610651"} xref: ICD10CM:Q82.1 {source="DOID:0110850"} xref: MESH:C562590 {source="MONDO:equivalentTo"} xref: NCIT:C3966 {source="MONDO:equivalentTo"} @@ -248966,9 +254990,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012532 name: hereditary hemorrhagic telangiectasia type 4 -subset: gard_rare +subset: gard_rare {source="GARD:10615"} synonym: "HHT4" RELATED ABBREVIATION [GARD:0010615, MONDO:Lexical, OMIM:610655] synonym: "telangiectasia, hereditary hemorrhagic, type 4" RELATED [MONDO:Lexical, OMIM:610655] +xref: GARD:10615 {source="OMIM:610655"} xref: MESH:C565691 {source="MONDO:equivalentTo"} xref: OMIM:610655 {source="MONDO:equivalentTo", source="GARD:0010615"} xref: Orphanet:774 {source="OMIM:610655", source="GARD:0010615"} @@ -248996,6 +255021,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012534 name: combined oxidative phosphorylation defect type 4 def: "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." [Orphanet:254925] +subset: gard_rare {source="GARD:17233"} subset: ordo_disease {source="Orphanet:254925"} synonym: "combined oxidative phosphorylation defect type 4" EXACT CLINGEN_PREFERRED [] synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678] @@ -249004,6 +255030,7 @@ synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE synonym: "COXPD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610678, Orphanet:254925] synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111494 {source="MONDO:equivalentTo"} +xref: GARD:17233 {source="Orphanet:254925"} xref: ICD10CM:E88.8 {source="Orphanet:254925/attributed", source="Orphanet:254925/ntbt", source="Orphanet:254925"} xref: MESH:C565690 {source="MONDO:equivalentTo"} xref: OMIM:610678 {source="Orphanet:254925/e", source="MONDO:equivalentTo", source="Orphanet:254925"} @@ -249020,7 +255047,6 @@ property_value: confidence "3.666666666666667" xsd:double [Term] id: MONDO:0012535 name: holoprosencephaly, recurrent infections, and monocytosis -subset: gard_rare {source="GARD:0010055"} synonym: "holoprosencephaly, recurrent infections, and monocytosis" EXACT [OMIM:610680] xref: MESH:C538328 {source="MONDO:equivalentTo"} xref: OMIM:610680 {source="MONDO:equivalentTo"} @@ -249032,6 +255058,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10055/holopr id: MONDO:0012536 name: osteogenesis imperfecta type 7 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:8701"} synonym: "CRTAP osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 7" RELATED [GARD:0008701] synonym: "OI type VII" RELATED [GARD:0008701] @@ -249045,6 +255072,7 @@ synonym: "osteogenesis imperfecta, type IIb" RELATED [OMIM:610682] synonym: "osteogenesis imperfecta, type IIb, formerly" RELATED [OMIM:610682] synonym: "osteogenesis imperfecta, type VII" RELATED [MONDO:Lexical, OMIM:610682] xref: DOID:0110337 {source="MONDO:equivalentTo"} +xref: GARD:8701 {source="OMIM:610682"} xref: ICD10CM:Q78.0 {source="DOID:0110337"} xref: OMIM:610682 {source="DOID:0110337", source="MONDO:equivalentTo"} xref: Orphanet:216804 {source="OMIM:610682", source="MONDO:directSiblingOf"} @@ -249062,8 +255090,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012537 name: split-hand/foot malformation with long bone deficiency 2 +subset: gard_rare {source="GARD:15492"} synonym: "SHFLD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610685] synonym: "split-hand/foot malformation with long bone deficiency 2" EXACT [MONDO:Lexical, OMIM:610685] +xref: GARD:15492 {source="OMIM:610685"} xref: MESH:C565199 {source="MONDO:equivalentTo"} xref: OMIM:610685 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="OMIM:610685"} @@ -249075,6 +255105,7 @@ property_value: confidence "2.659611992945326" xsd:double id: MONDO:0012538 name: nemaline myopathy 7 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15493"} synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM7" EXACT ABBREVIATION [DOID:0110934, MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610687] @@ -249082,6 +255113,7 @@ synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934] synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1, OMIM:610687] xref: DOID:0110934 {source="MONDO:equivalentTo"} +xref: GARD:15493 {source="OMIM:610687"} xref: MESH:C565198 {source="MONDO:equivalentTo"} xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:610687"} @@ -249098,12 +255130,14 @@ id: MONDO:0012539 name: Joubert syndrome 6 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:15494"} synonym: "JBTS6" EXACT ABBREVIATION [DOID:0111001, MONDO:Lexical, OMIM:610688] synonym: "Joubert syndrome 6" EXACT [MONDO:Lexical, OMIM:610688] synonym: "Joubert syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 6" EXACT [DOID:0111001, MONDORULE:1, OMIM:610688] synonym: "TMEM67 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111001 {source="MONDO:equivalentTo"} +xref: GARD:15494 {source="OMIM:610688"} xref: MESH:C537689 {source="MONDO:equivalentTo"} xref: OMIM:610688 {source="MONDO:equivalentTo", source="DOID:0111001"} xref: Orphanet:475 {source="OMIM:610688"} @@ -249138,6 +255172,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0012541 name: deafness with labyrinthine aplasia, microtia, and microdontia def: "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." [Orphanet:90024] +subset: gard_rare {source="GARD:10707"} subset: ordo_malformation_syndrome {source="Orphanet:90024"} synonym: "congenital deafness with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] synonym: "deafness congenital with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] @@ -249149,6 +255184,7 @@ synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdont synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [OMIM:610706] synonym: "LAMM syndrome" EXACT [Orphanet:90024] synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024] +xref: GARD:10707 {source="Orphanet:90024"} xref: ICD10CM:Q16.5 {source="Orphanet:90024", source="Orphanet:90024/attributed", source="Orphanet:90024/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548011 {source="Orphanet:90024", source="Orphanet:90024/e"} @@ -249181,9 +255217,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012543 name: optic atrophy 5 +subset: gard_rare {source="GARD:10201"} synonym: "OPA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610708] synonym: "optic atrophy 5" EXACT [MONDO:Lexical, OMIM:610708] xref: DOID:0111438 {source="MONDO:equivalentTo"} +xref: GARD:10201 {source="OMIM:610708"} xref: MESH:C537126 {source="MONDO:equivalentTo"} xref: OMIM:610708 {source="MONDO:equivalentTo"} xref: Orphanet:98673 {source="OMIM:610708"} @@ -249196,6 +255234,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012544 name: brachydactyly-syndactyly syndrome def: "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." [Orphanet:93409] +subset: gard_rare {source="GARD:16821"} subset: ordo_malformation_syndrome {source="Orphanet:93409"} synonym: "BDSD" RELATED ABBREVIATION [OMIM:610713] synonym: "Bdsd" RELATED [OMIM:610713] @@ -249203,6 +255242,7 @@ synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713] synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409] synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713] xref: DOID:0050689 {source="MONDO:equivalentTo"} +xref: GARD:16821 {source="Orphanet:93409"} xref: ICD10CM:Q73.8 {source="Orphanet:93409/attributed", source="Orphanet:93409/ntbt", source="Orphanet:93409"} xref: MESH:C565193 {source="MONDO:equivalentTo"} xref: OMIM:610713 {source="Orphanet:93409/e", source="DOID:0050689", source="MONDO:equivalentTo", source="Orphanet:93409"} @@ -249216,12 +255256,14 @@ property_value: confidence "4.7142857142857135" xsd:double [Term] id: MONDO:0012545 name: neutral lipid storage myopathy +subset: gard_rare {source="GARD:10288"} subset: ordo_disease {source="Orphanet:98908"} synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical, OMIM:610717] synonym: "neutral lipid storage disease with myopathy without ichthyosis" EXACT [Orphanet:98908] synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717] synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908] synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [Orphanet:98908] +xref: GARD:10288 {source="Orphanet:98908"} xref: ICD10CM:E75.5 {source="Orphanet:98908/attributed", source="Orphanet:98908/ntbt", source="Orphanet:98908"} xref: OMIM:610717 {source="Orphanet:98908/e", source="MONDO:equivalentTo", source="Orphanet:98908"} xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"} @@ -249235,12 +255277,14 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0012546 name: nephrotic syndrome, type 3 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15495"} synonym: "nephrotic syndrome caused by mutation in PLCE1" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, early-onset, type 3" RELATED [OMIM:610725] synonym: "nephrotic syndrome, type 3" EXACT [MONDO:Lexical, OMIM:610725] synonym: "NPHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610725] synonym: "PLCE1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080382 {source="MONDO:equivalentTo"} +xref: GARD:15495 {source="OMIM:610725"} xref: OMIM:610725 {source="MONDO:equivalentTo"} xref: UMLS:C1853124 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610725"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:610725"} ! familial nephrotic syndrome @@ -249255,7 +255299,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0012547 name: Noonan syndrome 4 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010699"} +subset: gard_rare {source="GARD:10699"} synonym: "Noonan syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610733] synonym: "Noonan syndrome caused by mutation in SOS1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 4" EXACT [DOID:0060582, MONDORULE:1, OMIM:610733] @@ -249263,6 +255307,7 @@ synonym: "NS4" EXACT ABBREVIATION [DOID:0060582, MONDO:Lexical, OMIM:610733] synonym: "SOS1 gene related Noonan syndrome" RELATED [GARD:0010699] synonym: "SOS1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060582 {source="MONDO:equivalentTo"} +xref: GARD:10699 {source="OMIM:610733"} xref: MESH:C548082 {source="MONDO:equivalentTo"} xref: NCIT:C176932 {source="MONDO:equivalentTo"} xref: OMIM:610733 {source="DOID:0060582", source="MONDO:equivalentTo"} @@ -249279,6 +255324,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10699/noonan id: MONDO:0012548 name: Kostmann syndrome def: "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." [Orphanet:99749] +subset: gard_rare {source="GARD:302"} subset: ordo_disease {source="Orphanet:99749"} synonym: "agranulocytosis infantile" RELATED [GARD:0000302] synonym: "agranulocytosis, infantile" RELATED [OMIM:610738] @@ -249290,6 +255336,7 @@ synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610738] synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302] synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749] xref: DOID:0112133 {source="MONDO:equivalentTo"} +xref: GARD:302 {source="Orphanet:99749"} xref: ICD10CM:D70 {source="Orphanet:99749/inclusion", source="Orphanet:99749", source="Orphanet:99749/ntbt"} xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"} xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} @@ -249306,6 +255353,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012549 name: autosomal recessive ataxia, Beauce type def: "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." [Orphanet:88644] +subset: gard_rare {source="GARD:12234"} subset: ordo_disease {source="Orphanet:88644"} synonym: "ARCA1" EXACT ABBREVIATION [Orphanet:88644] synonym: "ataxia, recessive, of Beauce" RELATED [OMIM:610743] @@ -249320,6 +255368,7 @@ synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical, synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:610743] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234] xref: DOID:0111618 {source="MONDO:equivalentTo"} +xref: GARD:12234 {source="Orphanet:88644"} xref: ICD10CM:G11.2 {source="Orphanet:88644/attributed", source="Orphanet:88644/ntbt", source="Orphanet:88644"} xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="Orphanet:88644/e"} xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"} @@ -249340,8 +255389,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012551 name: alopecia areata 2 +subset: gard_rare {source="GARD:15496"} synonym: "AA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610753] synonym: "alopecia areata 2" EXACT [MONDO:Lexical, OMIM:610753] +xref: GARD:15496 {source="OMIM:610753"} xref: MESH:C565186 {source="MONDO:equivalentTo"} xref: OMIM:610753 {source="MONDO:equivalentTo"} xref: Orphanet:700 {source="OMIM:610753"} @@ -249355,6 +255406,7 @@ property_value: confidence "1.1064814814814814" xsd:double id: MONDO:0012552 name: multiple endocrine neoplasia type 4 def: "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." [Orphanet:276152] +subset: gard_rare {source="GARD:17275"} subset: ordo_disease {source="Orphanet:276152"} synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610755, Orphanet:276152] @@ -249363,6 +255415,7 @@ synonym: "multiple endocrine neoplasia type 4" EXACT CLINGEN_PREFERRED [] synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755] synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755] xref: DOID:0080137 {source="MONDO:equivalentTo"} +xref: GARD:17275 {source="Orphanet:276152"} xref: ICD10CM:D44.8 {source="Orphanet:276152/attributed", source="Orphanet:276152/ntbt", source="Orphanet:276152"} xref: MESH:C567059 {source="MONDO:equivalentTo"} xref: NCIT:C157449 {source="MONDO:equivalentTo"} @@ -249384,12 +255437,14 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0012553 name: cerebrooculofacioskeletal syndrome 2 def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15497"} synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [MONDO:Lexical, OMIM:610756] synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1, OMIM:610756] synonym: "COFS syndrome caused by mutation in ERCC2" EXACT [MONDO:design_pattern] synonym: "COFS2" EXACT ABBREVIATION [OMIM:610756] synonym: "ERCC2 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080912 {source="MONDO:equivalentTo"} +xref: GARD:15497 {source="OMIM:610756"} xref: MESH:C565185 {source="MONDO:equivalentTo"} xref: OMIM:610756 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:610756"} @@ -249406,12 +255461,14 @@ property_value: confidence "0.8452812500000009" xsd:double id: MONDO:0012554 name: cerebrooculofacioskeletal syndrome 4 def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15498"} synonym: "cerebrooculofacioskeletal syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610758] synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1, OMIM:610758] synonym: "COFS syndrome caused by mutation in ERCC1" EXACT [MONDO:design_pattern] synonym: "COFS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610758] synonym: "ERCC1 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080914 {source="MONDO:equivalentTo"} +xref: GARD:15498 {source="OMIM:610758"} xref: MESH:C565184 {source="MONDO:equivalentTo"} xref: NCIT:C173104 {source="MONDO:equivalentTo"} xref: OMIM:610758 {source="MONDO:equivalentTo"} @@ -249429,6 +255486,7 @@ property_value: confidence "0.8452812500000009" xsd:double id: MONDO:0012555 name: Cornelia de Lange syndrome 3 def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15499"} synonym: "CDLS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610759] synonym: "Cornelia DE Lange syndrome 3" RELATED [OMIM:610759] synonym: "Cornelia de Lange syndrome 3" EXACT [MONDO:Lexical, OMIM:610759] @@ -249438,6 +255496,7 @@ synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1, OMIM:610759] synonym: "SMC3 Cornelia de Lange syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Smc3 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080507 {source="MONDO:equivalentTo"} +xref: GARD:15499 {source="OMIM:610759"} xref: OMIM:610759 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:610759"} xref: UMLS:C1853099 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610759"} @@ -249453,6 +255512,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012556 name: DK1-congenital disorder of glycosylation def: "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." [Orphanet:91131] +subset: gard_rare {source="GARD:12393"} subset: ordo_disease {source="Orphanet:91131"} synonym: "carbohydrate deficient glycoprotein syndrome type Im" EXACT [Orphanet:91131] synonym: "CDG Im" RELATED [OMIM:610768] @@ -249470,6 +255530,7 @@ synonym: "dolichol kinase deficiency" EXACT [OMIM:610768, Orphanet:91131] synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393] synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131] xref: DOID:0080565 {source="MONDO:equivalentTo"} +xref: GARD:12393 {source="Orphanet:91131"} xref: ICD10CM:E77.8 {source="Orphanet:91131", source="Orphanet:91131/attributed", source="Orphanet:91131/ntbt"} xref: MESH:C563666 {source="MONDO:equivalentTo"} xref: OMIM:610768 {source="Orphanet:91131", source="MONDO:equivalentTo", source="Orphanet:91131/e"} @@ -249493,10 +255554,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012557 name: cardiomyopathy-hypotonia-lactic acidosis syndrome def: "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." [Orphanet:91130] +subset: gard_rare {source="GARD:16795"} subset: ordo_disease {source="Orphanet:91130"} synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT [] synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773] synonym: "Mpcd" RELATED [OMIM:610773] +xref: GARD:16795 {source="Orphanet:91130"} xref: ICD10CM:G71.3 {source="Orphanet:91130/attributed", source="Orphanet:91130/ntbt", source="Orphanet:91130"} xref: MESH:C563665 {source="MONDO:equivalentTo"} xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="Orphanet:91130/e"} @@ -249526,11 +255589,13 @@ is_a: MONDO:0003847 {source="MESH:C563664/inferred"} ! hereditary disease id: MONDO:0012559 name: primary immunodeficiency syndrome due to p14 deficiency def: "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." [Orphanet:90023] +subset: gard_rare {source="GARD:16783"} subset: ordo_disease {source="Orphanet:90023"} synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [OMIM:610798] synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798] synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Orphanet:90023] synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023] +xref: GARD:16783 {source="Orphanet:90023"} xref: ICD10CM:D82.8 {source="Orphanet:90023", source="Orphanet:90023/attributed", source="Orphanet:90023/ntbt"} xref: MESH:C563663 {source="MONDO:equivalentTo"} xref: OMIM:610798 {source="MONDO:equivalentTo", source="Orphanet:90023", source="Orphanet:90023/e"} @@ -249619,7 +255684,6 @@ property_value: confidence "2.097409750055836" xsd:double [Term] id: MONDO:0012564 name: Polyosteolysis-hyperostosis syndrome -subset: gard_rare {source="GARD:0010456"} synonym: "Polyosteolysis-hyperostosis syndrome" EXACT [OMIM:610830] synonym: "Polyosteolysis/hyperostosis syndrome" RELATED [GARD:0010456] xref: MESH:C563658 {source="MONDO:equivalentTo"} @@ -249632,6 +255696,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10456/polyos id: MONDO:0012565 name: Fanconi anemia complementation group N def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15500"} synonym: "FANCN" EXACT ABBREVIATION [DOID:0111094, MONDO:Lexical, OMIM:610832] synonym: "Fanconi anaemia caused by mutation in PALB2" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type N" EXACT OMO:0003005 [] @@ -249643,6 +255708,7 @@ synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM synonym: "PALB2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111094 {source="MONDO:equivalentTo"} +xref: GARD:15500 {source="OMIM:610832"} xref: MESH:C563657 {source="MONDO:equivalentTo"} xref: OMIM:610832 {source="DOID:0111094", source="MONDO:equivalentTo"} xref: UMLS:C1835817 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610832"} @@ -249695,11 +255761,13 @@ relationship: predisposes_towards MONDO:0005178 {source="OMIM:610839"} ! osteoar [Term] id: MONDO:0012569 name: mitral valve prolapse, myxomatous 3 +subset: gard_rare {source="GARD:15501"} synonym: "mitral valve prolapse 3" RELATED [OMIM:610840] synonym: "mitral valve prolapse, myxomatous 3" EXACT [MONDO:Lexical, OMIM:610840] synonym: "MMVP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610840] synonym: "MVP3" RELATED ABBREVIATION [OMIM:610840] synonym: "myxomatous mitral valve prolapse 3" RELATED [OMIM:610840] +xref: GARD:15501 {source="OMIM:610840"} xref: MESH:C563655 {source="MONDO:equivalentTo"} xref: OMIM:610840 {source="MONDO:equivalentTo"} xref: UMLS:C1835814 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610840"} @@ -249710,11 +255778,13 @@ property_value: confidence "2.471428571428572" xsd:double id: MONDO:0012570 name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency def: "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." [Orphanet:91135] +subset: gard_rare {source="GARD:16796"} subset: ordo_disease {source="Orphanet:91135"} synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [OMIM:610842] synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135] synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842] synonym: "PXE-like syndrome" EXACT [Orphanet:91135] +xref: GARD:16796 {source="Orphanet:91135"} xref: ICD10CM:D68.4 {source="Orphanet:91135", source="Orphanet:91135/attributed", source="Orphanet:91135/ntbt"} xref: MESH:C563654 {source="MONDO:equivalentTo"} xref: OMIM:610842 {source="MONDO:equivalentTo", source="Orphanet:91135", source="Orphanet:91135/e"} @@ -249733,6 +255803,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012571 name: primary ciliary dyskinesia 6 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15502"} synonym: "CILD6" EXACT ABBREVIATION [DOID:0110606, MONDO:Lexical, OMIM:610852] synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical, OMIM:610852] synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1, OMIM:610852] @@ -249740,6 +255811,7 @@ synonym: "NME8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:pa synonym: "primary ciliary dyskinesia caused by mutation in NME8" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 6" EXACT [DOID:0110606, MONDORULE:1] xref: DOID:0110606 {source="MONDO:equivalentTo"} +xref: GARD:15502 {source="OMIM:610852"} xref: ICD10CM:Q34.8 {source="DOID:0110606"} xref: MESH:C567057 {source="MONDO:equivalentTo"} xref: OMIM:610852 {source="DOID:0110606", source="MONDO:equivalentTo"} @@ -249752,7 +255824,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012572 name: Sakoda complex -subset: gard_rare {source="GARD:0009695"} synonym: "Sakoda complex" EXACT [OMIM:610871] synonym: "Sakoda spectrum" RELATED [OMIM:610871] synonym: "sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate" RELATED [GARD:0009695] @@ -249767,11 +255838,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9695/sakoda- id: MONDO:0012573 name: vesicoureteral reflux 2 def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18419"} synonym: "ROBO2 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in ROBO2" EXACT [] synonym: "vesicoureteral reflux 2" EXACT [MONDO:Lexical, OMIM:610878] synonym: "vesicoureteral reflux type 2" EXACT [MONDORULE:1, OMIM:610878] synonym: "VUR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610878] +xref: GARD:18419 {source="OMIM:610878"} xref: MESH:C567053 {source="MONDO:equivalentTo"} xref: OMIM:610878 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:610878"} @@ -249786,6 +255859,7 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0012574 name: Potocki-Lupski syndrome def: "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." [Orphanet:1713] +subset: gard_rare {source="GARD:10145"} subset: ordo_malformation_syndrome {source="Orphanet:1713"} synonym: "17p11.2 Duplication syndrome" EXACT [NCIT:C124846] synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853] @@ -249799,6 +255873,7 @@ synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610883] synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713] xref: DECIPHER:19 {source="MONDO:equivalentTo"} xref: DOID:0060853 {source="MONDO:equivalentTo"} +xref: GARD:10145 {source="Orphanet:1713"} xref: MESH:C536578 {source="Orphanet:1713/e", source="DOID:0060853", source="Orphanet:1713"} xref: NCIT:C124846 {source="MONDO:equivalentTo"} xref: OMIM:610883 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} @@ -249819,12 +255894,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012575 name: branchiootorenal syndrome 2 def: "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15503"} synonym: "BOR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610896] synonym: "branchio-oto-renal syndrome caused by mutation in SIX5" EXACT [MONDO:design_pattern] synonym: "branchiootorenal syndrome 2" EXACT [MONDO:Lexical, OMIM:610896] synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1, OMIM:610896] synonym: "SIX5 branchio-oto-renal syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111424 {source="MONDO:equivalentTo"} +xref: GARD:15503 {source="OMIM:610896"} xref: OMIM:610896 {source="MONDO:equivalentTo"} xref: Orphanet:107 {source="OMIM:610896"} xref: UMLS:C1970479 {source="MONDO:equivalentTo", source="OMIM:610896", source="MONDO:ncbi_mim2gene_medline"} @@ -249838,8 +255915,10 @@ property_value: confidence "0.14285714285714302" xsd:double [Term] id: MONDO:0012576 name: supranuclear palsy, progressive, 3 +subset: gard_rare {source="GARD:18345"} synonym: "PSNP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610898] synonym: "supranuclear palsy, progressive, 3" EXACT [MONDO:Lexical, OMIM:610898] +xref: GARD:18345 {source="OMIM:610898"} xref: MESH:C567050 {source="MONDO:equivalentTo"} xref: OMIM:610898 {source="MONDO:equivalentTo"} xref: Orphanet:240071 {source="OMIM:610898"} @@ -249878,7 +255957,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012579 name: autoimmune pulmonary alveolar proteinosis def: "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." [Orphanet:747] -subset: gard_rare {source="GARD:0007499"} +subset: gard_rare {source="GARD:7499"} subset: ordo_disease {source="Orphanet:747"} synonym: "acquired pulmonary alveolar proteinosis" RELATED [GARD:0007499] synonym: "APAP" EXACT ABBREVIATION [Orphanet:747] @@ -249895,6 +255974,7 @@ synonym: "pulmonary alveolar proteinosis acquired" RELATED [GARD:0007499] synonym: "pulmonary alveolar proteinosis autoimmune" RELATED [GARD:0007499] synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910] synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910] +xref: GARD:7499 {source="Orphanet:747"} xref: ICD10CM:J84.0 {source="Orphanet:747", source="Orphanet:747/ntbt"} xref: MESH:C567049 {source="MONDO:equivalentTo"} xref: OMIM:610910 {source="MONDO:equivalentTo", source="Orphanet:747", source="Orphanet:747/e"} @@ -249912,7 +255992,7 @@ id: MONDO:0012580 name: hereditary pulmonary alveolar proteinosis def: "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." [Orphanet:264675] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) -subset: gard_rare +subset: gard_rare {source="GARD:4582"} subset: ordo_disease {source="Orphanet:264675"} synonym: "congenital PAP" EXACT [GARD:0004582, Orphanet:264675] synonym: "congenital pulmonary alveolar proteinosis" EXACT [Orphanet:264675] @@ -249920,6 +256000,7 @@ synonym: "hereditary pulmonary alveolar proteinosis" EXACT CLINGEN_PREFERRED [MO synonym: "inborn error of pulmonary surfactant metabolism" EXACT [MONDO:cjm] synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582] synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120] +xref: GARD:4582 {source="Orphanet:264675"} xref: ICD10CM:J84.0 {source="Orphanet:264675", source="Orphanet:264675/attributed", source="Orphanet:264675/ntbt"} xref: MESH:C535832 {source="MONDO:equivalentTo"} xref: OMIMPS:265120 {source="MONDO:equivalentTo"} @@ -249939,6 +256020,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012581 name: osteogenesis imperfecta type 8 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10152"} synonym: "OI type VIII" RELATED [GARD:0010152] synonym: "OI, type 8" RELATED [OMIM:610915] synonym: "OI8" EXACT ABBREVIATION [DOID:0110336, MONDO:Lexical, OMIM:610915] @@ -249949,6 +256031,7 @@ synonym: "osteogenesis imperfecta, type 8" RELATED [OMIM:610915] synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical, OMIM:610915] synonym: "P3H1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110336 {source="MONDO:equivalentTo"} +xref: GARD:10152 {source="OMIM:610915"} xref: ICD10CM:Q78.0 {source="DOID:0110336"} xref: MESH:C536049 {source="MONDO:equivalentTo"} xref: OMIM:610915 {source="DOID:0110336", source="MONDO:equivalentTo"} @@ -249967,6 +256050,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012582 name: interstitial lung disease due to ABCA3 deficiency def: "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." [Orphanet:440402] +subset: gard_rare {source="GARD:17745"} subset: ordo_disease {source="Orphanet:440402"} synonym: "interstitial lung disease due to ABCA3 deficiency" EXACT [OMIM:610921] synonym: "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" EXACT [Orphanet:440402] @@ -249974,6 +256058,7 @@ synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [OMIM:610921] synonym: "SMDP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610921] synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical, OMIM:610921] synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1, OMIM:610921] +xref: GARD:17745 {source="Orphanet:440402"} xref: ICD10CM:J84.8 {source="Orphanet:440402", source="Orphanet:440402/attributed", source="Orphanet:440402/ntbt"} xref: MESH:C567046 {source="MONDO:equivalentTo"} xref: OMIM:610921 {source="MONDO:equivalentTo", source="Orphanet:440402", source="Orphanet:440402/e"} @@ -249988,10 +256073,12 @@ property_value: confidence "0.025156250000000213" xsd:double [Term] id: MONDO:0012583 name: tooth agenesis, selective, 5 +subset: gard_rare {source="GARD:18248"} synonym: "he-Zhao deficiency" RELATED [OMIM:610926] synonym: "hypodontia/oligodontia 5" RELATED [OMIM:610926] synonym: "STHAG5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610926] synonym: "tooth agenesis, selective, 5" EXACT [MONDO:Lexical, OMIM:610926] +xref: GARD:18248 {source="OMIM:610926"} xref: MESH:C565757 {source="MONDO:equivalentTo"} xref: OMIM:610926 {source="MONDO:equivalentTo"} xref: Orphanet:99798 {source="OMIM:610926"} @@ -250079,7 +256166,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012588 name: neuronal ceroid lipofuscinosis 7 def: "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7] -subset: gard_rare {source="GARD:0001220"} +subset: gard_rare {source="GARD:1220"} subset: ordo_etiological_subtype {source="Orphanet:228366"} synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical, OMIM:610951] synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:610951] @@ -250091,6 +256178,7 @@ synonym: "neuronal ceroid lipofuscinosis 7" EXACT CLINGEN_PREFERRED [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1] xref: DOID:0110722 {source="MONDO:equivalentTo"} +xref: GARD:1220 {source="Orphanet:228366"} xref: ICD10CM:E75.4 {source="DOID:0110722", source="Orphanet:228366/attributed", source="Orphanet:228366/ntbt", source="Orphanet:228366"} xref: MESH:C563989 {source="MONDO:equivalentTo"} xref: OMIM:610951 {source="Orphanet:228366/e", source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366"} @@ -250109,7 +256197,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1220/neurona id: MONDO:0012589 name: Pitt-Hopkins syndrome def: "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." [Orphanet:2896] -subset: gard_rare {source="GARD:0004372"} +subset: gard_rare {source="GARD:4372"} subset: ordo_malformation_syndrome {source="Orphanet:2896"} synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [OMIM:610954] synonym: "intellectual disability, Syndromal, with intermittent hyperventilation" RELATED [OMIM:610954] @@ -250119,6 +256207,7 @@ synonym: "Pitt Hopkins syndrome" RELATED [GARD:0004372] synonym: "Pitt-Hopkins syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610954] synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954] xref: DOID:0060488 {source="MONDO:equivalentTo"} +xref: GARD:4372 {source="Orphanet:2896"} xref: ICD10CM:Q87.0 {source="Orphanet:2896/attributed", source="Orphanet:2896/ntbt", source="Orphanet:2896"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} @@ -250141,7 +256230,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4372/pitt-ho id: MONDO:0012590 name: XFE progeroid syndrome def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." [DOID:0060590, PMID:17183314] -subset: gard_rare {source="GARD:0010628"} synonym: "XFE progeroid syndrome" EXACT [MONDO:Lexical, OMIM:610965] synonym: "XFEPS" EXACT ABBREVIATION [DOID:0060590, MONDO:Lexical, OMIM:610965] synonym: "XPF-ERCC1 progeroid syndrome" EXACT [DOID:0060590, OMIM:610965] @@ -250159,6 +256247,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10628/xfe-pr id: MONDO:0012591 name: osteogenesis imperfecta type 5 def: "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." [Orphanet:216828] +subset: gard_rare {source="GARD:8699"} subset: ordo_clinical_subtype {source="Orphanet:216828"} synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 5" EXACT [Orphanet:216828] @@ -250172,6 +256261,7 @@ synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967] synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967] synonym: "type V OI" RELATED [GARD:0008699] xref: DOID:0110344 {source="MONDO:equivalentTo"} +xref: GARD:8699 {source="Orphanet:216828"} xref: ICD10CM:Q78.0 {source="Orphanet:216828", source="Orphanet:216828/attributed", source="Orphanet:216828/ntbt", source="DOID:0110344"} xref: MESH:C536046 {source="Orphanet:216828", source="Orphanet:216828/e"} xref: MESH:C567042 {source="MONDO:equivalentTo"} @@ -250191,6 +256281,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012592 name: osteogenesis imperfecta type 11 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12875"} synonym: "FKBP10 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 11" RELATED [GARD:0012875] synonym: "OI type XI" RELATED [GARD:0012875] @@ -250201,6 +256292,7 @@ synonym: "osteogenesis imperfecta type XI" EXACT [DOID:0110351] synonym: "osteogenesis imperfecta, type 11" RELATED [OMIM:610968] synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical, OMIM:610968] xref: DOID:0110351 {source="MONDO:equivalentTo"} +xref: GARD:12875 {source="OMIM:610968"} xref: ICD10CM:Q78.0 {source="DOID:0110351"} xref: OMIM:610968 {source="MONDO:equivalentTo", source="DOID:0110351"} xref: Orphanet:216812 {source="OMIM:610968", source="MONDO:directSiblingOf"} @@ -250218,7 +256310,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012593 name: brain-lung-thyroid syndrome def: "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." [Orphanet:209905] -subset: gard_rare {source="GARD:0012163"} +subset: gard_rare {source="GARD:12163"} subset: ordo_disease {source="Orphanet:209905"} synonym: "BLT syndrome" RELATED [GARD:0012163] synonym: "brain-lung-thyroid syndrome" EXACT [OMIM:610978] @@ -250227,6 +256319,7 @@ synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonar synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [OMIM:610978, OMIM:genemap2] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905] +xref: GARD:12163 {source="Orphanet:209905"} xref: ICD10CM:E03.1 {source="Orphanet:209905/attributed", source="Orphanet:209905/ntbt", source="Orphanet:209905"} xref: MESH:C567034 {source="MONDO:equivalentTo"} xref: OMIM:610978 {source="Orphanet:209905", source="MONDO:equivalentTo", source="Orphanet:209905/e"} @@ -250250,6 +256343,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12163/brain- [Term] id: MONDO:0012594 name: complement factor I deficiency +subset: gard_rare {source="GARD:17098"} subset: ordo_disease {source="Orphanet:200418"} synonym: "C3 inactivator deficiency" EXACT [DOID:0050419] synonym: "CFID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610984] @@ -250258,6 +256352,7 @@ synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984] synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984] synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418] xref: DOID:0050419 {source="MONDO:equivalentTo"} +xref: GARD:17098 {source="Orphanet:200418"} xref: ICD10CM:D84.1 {source="Orphanet:200418", source="Orphanet:200418/attributed", source="Orphanet:200418/ntbt"} xref: MESH:C572568 {source="MONDO:equivalentTo"} xref: OMIM:610984 {source="Orphanet:200418/e", source="MONDO:equivalentTo", source="Orphanet:200418", source="DOID:0050419"} @@ -250272,6 +256367,7 @@ property_value: confidence "3.2857142857142847" xsd:double id: MONDO:0012595 name: leprosy, susceptibility to, 4 def: "Any leprosy in which the cause of the disease is a mutation in the LTA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15504"} subset: predisposition synonym: "leprosy caused by mutation in LTA" EXACT [MONDO:design_pattern] synonym: "leprosy, early-onset, susceptibility to" RELATED [OMIM:610988] @@ -250280,6 +256376,7 @@ synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610988] synonym: "LPRS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610988] synonym: "LTA leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to leprosy 4" RELATED [OMIM:610988] +xref: GARD:15504 {source="OMIM:610988"} xref: OMIM:610988 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:610988"} xref: UMLS:C1970254 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610988"} @@ -250294,11 +256391,13 @@ property_value: confidence "3.6904762151629074" xsd:double id: MONDO:0012596 name: PSAT deficiency def: "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." [Orphanet:284417] +subset: gard_rare {source="GARD:13273"} subset: ordo_disease {source="Orphanet:284417"} synonym: "phosphoserine aminotransferase deficiency" EXACT [DOID:0050723, MONDO:Lexical, OMIM:610992] synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417] synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610992] xref: DOID:0050723 {source="MONDO:equivalentTo"} +xref: GARD:13273 {source="Orphanet:284417"} xref: ICD10CM:E72.8 {source="Orphanet:284417/attributed", source="Orphanet:284417/ntbt", source="Orphanet:284417"} xref: MESH:C567032 {source="MONDO:equivalentTo"} xref: OMIM:610992 {source="Orphanet:284417/e", source="MONDO:equivalentTo", source="DOID:0050723", source="Orphanet:284417"} @@ -250314,9 +256413,11 @@ property_value: confidence "3.2857142857142856" xsd:double [Term] id: MONDO:0012597 name: prostate cancer, hereditary, 9 +subset: gard_rare {source="GARD:15505"} synonym: "HPC9" RELATED ABBREVIATION [OMIM:610997] synonym: "prostate cancer, hereditary, 9" EXACT [OMIM:610997] synonym: "prostate cancer, hereditary, type 9" EXACT [MONDORULE:1, OMIM:610997] +xref: GARD:15505 {source="OMIM:610997"} xref: MESH:C567031 {source="MONDO:equivalentTo"} xref: OMIM:610997 {source="MONDO:equivalentTo"} xref: UMLS:C1970250 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610997"} @@ -250327,6 +256428,7 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0012598 name: fibromatosis, gingival, 4 +subset: gard_rare {source="GARD:2475"} synonym: "fibromatosis gingival, hereditary, 4" RELATED [GARD:0002475] synonym: "fibromatosis, gingival, 4" EXACT [MONDO:Lexical, OMIM:611010] synonym: "fibromatosis, gingival, hereditary, 4" RELATED [OMIM:611010] @@ -250335,6 +256437,7 @@ synonym: "GINGF4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611010] synonym: "gingival fibromatosis, 4" RELATED [GARD:0002475] synonym: "hereditary gingival fibromatosis, 4" RELATED [GARD:0002475] synonym: "HGF4" RELATED ABBREVIATION [GARD:0002475] +xref: GARD:2475 {source="OMIM:611010"} xref: MESH:C567028 {source="MONDO:equivalentTo"} xref: OMIM:611010 {source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="OMIM:611010"} @@ -250384,6 +256487,7 @@ relationship: predisposes_towards MONDO:0005260 ! autism id: MONDO:0012602 name: autosomal recessive nonsyndromic hearing loss 24 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22626"} synonym: "autosomal recessive deafness 24" NARROW [DOID:0110482] synonym: "autosomal recessive nonsyndromic deafness 24" NARROW CLINGEN_PREFERRED [OMIM:611022] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" NARROW [MONDO:design_pattern] @@ -250393,6 +256497,7 @@ synonym: "deafness, autosomal recessive type 24" NARROW [MONDORULE:2, OMIM:61102 synonym: "DFNB24" NARROW ABBREVIATION [DOID:0110482, MONDO:Lexical, OMIM:611022] synonym: "RDX autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110482 {source="MONDO:equivalentTo"} +xref: GARD:22626 {source="OMIM:611022"} xref: ICD10CM:H90.3 {source="DOID:0110482"} xref: MESH:C567027 {source="MONDO:equivalentTo"} xref: OMIM:611022 {source="MONDO:equivalentTo", source="DOID:0110482"} @@ -250408,11 +256513,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012603 name: episodic kinesigenic dyskinesia 2 def: "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." [DOID:0090054] +subset: gard_rare {source="GARD:15506"} synonym: "dystonia 19" RELATED [OMIM:611031] synonym: "EKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611031] synonym: "episodic kinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611031] synonym: "episodic kinesigenic dyskinesia type 2" EXACT [DOID:0090054, MONDORULE:1] xref: DOID:0090054 {source="MONDO:equivalentTo"} +xref: GARD:15506 {source="OMIM:611031"} xref: ICD10CM:G24.8 {source="DOID:0090054"} xref: MESH:C567026 {source="MONDO:equivalentTo"} xref: OMIM:611031 {source="DOID:0090054", source="MONDO:equivalentTo"} @@ -250452,6 +256559,7 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0012605 name: isolated microphthalmia 5 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17205"} subset: ordo_disease {source="Orphanet:251279"} synonym: "isolated microphthalmia 5" EXACT CLINGEN_PREFERRED [] synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] @@ -250468,6 +256576,7 @@ synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndr synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [DOID:0060837] xref: DOID:0060837 {source="MONDO:equivalentTo"} +xref: GARD:17205 {source="Orphanet:251279"} xref: ICD10CM:Q15.8 {source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/attributed", source="Orphanet:251279/ntbt"} xref: MESH:C567024 {source="MONDO:equivalentTo"} xref: OMIM:611040 {source="MONDO:equivalentTo", source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/e"} @@ -250514,6 +256623,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012608 name: neuronopathy, distal hereditary motor, autosomal recessive 4 def: "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." [Orphanet:206580] +subset: gard_rare {source="GARD:17101"} subset: ordo_disease {source="Orphanet:206580"} synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [Orphanet:206580] synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [Orphanet:206580] @@ -250524,6 +256634,7 @@ synonym: "neuronopathy, distal hereditary motor, autosomal recessive 4" EXACT [O synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067] xref: DOID:0111213 {source="MONDO:equivalentTo"} +xref: GARD:17101 {source="Orphanet:206580"} xref: ICD10CM:G12.2 {source="Orphanet:206580", source="Orphanet:206580/attributed", source="Orphanet:206580/ntbt"} xref: MESH:C567023 {source="MONDO:equivalentTo"} xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="Orphanet:206580/e"} @@ -250538,6 +256649,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0012609 name: Alzheimer disease 12 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." [DOID:0110045, PMID:16825432] +subset: gard_rare {source="GARD:16516"} synonym: "AD12" EXACT ABBREVIATION [DOID:0110045] synonym: "Ad12" RELATED [OMIM:611073] synonym: "Alzheimer disease 12" EXACT [DOID:0110045, OMIM:611073] @@ -250547,6 +256659,7 @@ synonym: "Alzheimer disease, familial, 12" RELATED [OMIM:611073] synonym: "Alzheimer's disease 12" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 12" EXACT [DOID:0110045, MONDORULE:2] xref: DOID:0110045 {source="MONDO:equivalentTo"} +xref: GARD:16516 {source="OMIM:611073"} xref: ICD10CM:G30 {source="DOID:0110045"} xref: MESH:C567022 {source="MONDO:equivalentTo"} xref: OMIM:611073 {source="MONDO:equivalentTo", source="DOID:0110045"} @@ -250581,6 +256694,7 @@ property_value: confidence "3.999999999999999" xsd:double [Term] id: MONDO:0012611 name: polyhydramnios, megalencephaly, and symptomatic epilepsy +subset: gard_rare {source="GARD:12913"} subset: ordo_disease synonym: "PMSE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611087] synonym: "PMSE syndrome" EXACT [OMIM:611087, Orphanet:500533] @@ -250588,6 +256702,7 @@ synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [MONDO synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" RELATED [GARD:0012913] synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [Orphanet:500533] synonym: "pretzel syndrome" RELATED [GARD:0012913] +xref: GARD:12913 {source="Orphanet:500533"} xref: MESH:C567020 {source="MONDO:equivalentTo"} xref: OMIM:611087 {source="Orphanet:500533", source="MONDO:equivalentTo"} xref: Orphanet:500533 {source="MONDO:equivalentTo"} @@ -250602,6 +256717,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012612 name: intellectual disability, autosomal recessive 12 +subset: gard_rare {source="GARD:22540"} synonym: "intellectual developmental disorder, autosomal recessive 12" EXACT [OMIM:611090, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 12" EXACT [MONDO:Lexical, OMIM:611090] synonym: "intellectual disability, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:611090] @@ -250609,6 +256725,7 @@ synonym: "mental retardation, autosomal recessive 12" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:611090] synonym: "MRT12" RELATED DEPRECATED [MONDO:Lexical, OMIM:611090] xref: DOID:0081180 {source="MONDO:equivalentTo"} +xref: GARD:22540 {source="OMIM:611090"} xref: MESH:C567019 {source="MONDO:equivalentTo"} xref: OMIM:611090 {source="MONDO:equivalentTo"} xref: UMLS:C1970200 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611090"} @@ -250620,6 +256737,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012613 name: intellectual disability, autosomal recessive 5 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22541"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:611091] synonym: "intellectual disability, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:611091] @@ -250628,6 +256746,7 @@ synonym: "mental retardation, autosomal recessive type 5" EXACT DEPRECATED [MOND synonym: "MRT5" RELATED DEPRECATED [MONDO:Lexical, OMIM:611091] synonym: "NSUN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081181 {source="MONDO:equivalentTo"} +xref: GARD:22541 {source="OMIM:611091"} xref: MESH:C567018 {source="MONDO:equivalentTo"} xref: OMIM:611091 {source="MONDO:equivalentTo"} xref: UMLS:C1970199 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611091"} @@ -250641,6 +256760,7 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0012614 name: intellectual disability, autosomal recessive 6 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22542"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" EXACT [MONDO:design_pattern] synonym: "GRIK2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, autosomal recessive 6" EXACT [OMIM:611092, OMIM:genemap2] @@ -250650,6 +256770,7 @@ synonym: "mental retardation, autosomal recessive 6" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal recessive type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:611092] synonym: "MRT6" RELATED DEPRECATED [MONDO:Lexical, OMIM:611092] xref: DOID:0081182 {source="MONDO:equivalentTo"} +xref: GARD:22542 {source="OMIM:611092"} xref: MESH:C567017 {source="MONDO:equivalentTo"} xref: OMIM:611092 {source="MONDO:equivalentTo"} xref: UMLS:C1970198 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611092"} @@ -250664,6 +256785,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012615 name: intellectual disability, autosomal recessive 7 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22543"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 22" RELATED [OMIM:611093] synonym: "intellectual disability, autosomal recessive 7" EXACT [MONDO:Lexical, OMIM:611093] @@ -250674,6 +256796,7 @@ synonym: "mental retardation, autosomal recessive type 7" EXACT DEPRECATED [MOND synonym: "MRT7" RELATED DEPRECATED [MONDO:Lexical, OMIM:611093] synonym: "TUSC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081183 {source="MONDO:equivalentTo"} +xref: GARD:22543 {source="OMIM:611093"} xref: MESH:C567016 {source="MONDO:equivalentTo"} xref: OMIM:611093 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611093"} @@ -250695,6 +256818,7 @@ replaced_by: MONDO:0013676 [Term] id: MONDO:0012617 name: intellectual disability, autosomal recessive 9 +subset: gard_rare {source="GARD:22544"} synonym: "intellectual disability, autosomal recessive 26" RELATED [OMIM:611095] synonym: "intellectual disability, autosomal recessive 9" EXACT [MONDO:Lexical, OMIM:611095] synonym: "mental retardation, autosomal recessive 26" RELATED DEPRECATED [OMIM:611095] @@ -250702,6 +256826,7 @@ synonym: "mental retardation, autosomal recessive 9" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal recessive, 9/26" EXACT [OMIM:611095, OMIM:genemap2] synonym: "MRT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611095] xref: DOID:0081184 {source="MONDO:equivalentTo"} +xref: GARD:22544 {source="OMIM:611095"} xref: MESH:C567014 {source="MONDO:equivalentTo"} xref: OMIM:611095 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611095"} @@ -250713,6 +256838,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012618 name: intellectual disability, autosomal recessive 10 +subset: gard_rare {source="GARD:22545"} synonym: "intellectual disability, autosomal recessive 10" EXACT [MONDO:Lexical, OMIM:611096] synonym: "intellectual disability, autosomal recessive 20" RELATED [OMIM:611096] synonym: "mental retardation, autosomal recessive 10" RELATED DEPRECATED [MONDO:Lexical, OMIM:611096] @@ -250720,6 +256846,7 @@ synonym: "mental retardation, autosomal recessive 10/20" EXACT [OMIM:611096, OMI synonym: "mental retardation, autosomal recessive 20" RELATED DEPRECATED [OMIM:611096] synonym: "MRT10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611096] xref: DOID:0081185 {source="MONDO:equivalentTo"} +xref: GARD:22545 {source="OMIM:611096"} xref: MESH:C567013 {source="MONDO:equivalentTo"} xref: OMIM:611096 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611096"} @@ -250731,11 +256858,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012619 name: intellectual disability, autosomal recessive 11 +subset: gard_rare {source="GARD:22546"} synonym: "intellectual disability, autosomal recessive 11" EXACT [MONDO:Lexical, OMIM:611097] synonym: "mental retardation, autosomal recessive 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:611097] synonym: "mental retardation, autosomal recessive, 11" EXACT [OMIM:611097, OMIM:genemap2] synonym: "MRT11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611097] xref: DOID:0081186 {source="MONDO:equivalentTo"} +xref: GARD:22546 {source="OMIM:611097"} xref: MESH:C567012 {source="MONDO:equivalentTo"} xref: OMIM:611097 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611097"} @@ -250747,8 +256876,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012620 name: prostate cancer, hereditary, 10 +subset: gard_rare {source="GARD:15507"} synonym: "HPC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611100] synonym: "prostate cancer, hereditary, 10" EXACT [MONDO:Lexical, OMIM:611100] +xref: GARD:15507 {source="OMIM:611100"} xref: MESH:C567011 {source="MONDO:equivalentTo"} xref: OMIM:611100 {source="MONDO:equivalentTo"} xref: UMLS:C1970192 {source="OMIM:611100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -250760,7 +256891,7 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012621 name: deafness-infertility syndrome def: "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." [Orphanet:94064] -subset: gard_rare {source="GARD:0011911"} +subset: gard_rare {source="GARD:11911"} subset: ordo_malformation_syndrome {source="Orphanet:94064"} synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [OMIM:611102] synonym: "deafness and male infertility" EXACT [OMIM:611102, OMIM:genemap2] @@ -250768,6 +256899,7 @@ synonym: "deafness, sensorineural, and Male infertility" RELATED [OMIM:611102] synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102] synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064] synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911] +xref: GARD:11911 {source="Orphanet:94064"} xref: ICD10CM:Q93.5 {source="Orphanet:94064/attributed", source="Orphanet:94064/ntbt", source="Orphanet:94064"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567010 {source="MONDO:equivalentTo"} @@ -250785,6 +256917,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11911/deafne id: MONDO:0012622 name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome def: "This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." [Orphanet:137898] +subset: gard_rare {source="GARD:12652"} subset: ordo_disease {source="Orphanet:137898"} synonym: "LBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611105, Orphanet:137898] synonym: "leukoencephalopathy with brain stem and spinal cord involvement - high lactate" RELATED [GARD:0012652] @@ -250794,6 +256927,7 @@ synonym: "leukoencephalopathy with brain stem and spinal cord involvement-high l synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" EXACT [Orphanet:137898] synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105] synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105] +xref: GARD:12652 {source="Orphanet:137898"} xref: ICD10CM:E75.2 {source="Orphanet:137898/attributed", source="Orphanet:137898/ntbt", source="Orphanet:137898"} xref: MESH:C567009 {source="MONDO:equivalentTo"} xref: OMIM:611105 {source="Orphanet:137898", source="MONDO:equivalentTo", source="Orphanet:137898/e"} @@ -250808,11 +256942,13 @@ property_value: confidence "3.666666666666667" xsd:double [Term] id: MONDO:0012623 name: intellectual disability, autosomal recessive 4 +subset: gard_rare {source="GARD:22547"} synonym: "intellectual disability, autosomal recessive 4" EXACT [MONDO:Lexical, OMIM:611107] synonym: "mental retardation, autosomal recessive 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:611107] synonym: "mental retardation, autosomal recessive, 4" EXACT [OMIM:611107, OMIM:genemap2] synonym: "MRT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611107] xref: DOID:0081187 {source="MONDO:equivalentTo"} +xref: GARD:22547 {source="OMIM:611107"} xref: MESH:C567008 {source="MONDO:equivalentTo"} xref: OMIM:611107 {source="MONDO:equivalentTo"} xref: UMLS:C1970179 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611107"} @@ -250824,12 +256960,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012624 name: acyl-CoA dehydrogenase 9 deficiency def: "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." [Orphanet:99901] +subset: gard_rare {source="GARD:12986"} subset: ordo_disease {source="Orphanet:99901"} synonym: "ACAD9 deficiency" EXACT [OMIM:611126, Orphanet:99901] synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT CLINGEN_PREFERRED [OMIM:611126] synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [OMIM:611126] synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [OMIM:611126, OMIM:genemap2] xref: DOID:0112072 {source="MONDO:equivalentTo"} +xref: GARD:12986 {source="Orphanet:99901"} xref: ICD10CM:E71.3 {source="Orphanet:99901", source="Orphanet:99901/attributed", source="Orphanet:99901/ntbt"} xref: MESH:C567006 {source="MONDO:equivalentTo"} xref: OMIM:611126 {source="MONDO:equivalentTo", source="Orphanet:99901", source="Orphanet:99901/e"} @@ -250845,12 +256983,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012625 name: retinitis pigmentosa 37 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15508"} synonym: "NR2E3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 37" EXACT [MONDO:Lexical, OMIM:611131] synonym: "retinitis pigmentosa caused by mutation in NR2E3" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 37" EXACT [DOID:0110399, MONDORULE:2, OMIM:611131] synonym: "RP37" EXACT ABBREVIATION [DOID:0110399, MONDO:Lexical, OMIM:611131] xref: DOID:0110399 {source="MONDO:equivalentTo"} +xref: GARD:15508 {source="OMIM:611131"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110399"} xref: MESH:C567005 {source="MONDO:equivalentTo"} xref: OMIM:611131 {source="MONDO:equivalentTo", source="DOID:0110399"} @@ -250865,6 +257005,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012626 name: Meckel syndrome, type 4 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15509"} synonym: "CEP290 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Meckel syndrome 4" RELATED [DOID:0070118] synonym: "Meckel syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] @@ -250873,6 +257014,7 @@ synonym: "Meckel-Gruber syndrome, type 4" EXACT [DOID:0070118, OMIM:611134] synonym: "Meckel-like Cerebrorenodigital syndrome" RELATED [OMIM:611134] synonym: "MKS4" EXACT ABBREVIATION [DOID:0070118, MONDO:Lexical, OMIM:611134] xref: DOID:0070118 {source="MONDO:equivalentTo"} +xref: GARD:15509 {source="OMIM:611134"} xref: ICD10CM:Q61.9 {source="DOID:0070118"} xref: OMIM:611134 {source="MONDO:equivalentTo", source="DOID:0070118"} xref: Orphanet:564 {source="OMIM:611134"} @@ -250891,6 +257033,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012627 name: epilepsy, idiopathic generalized, susceptibility to, 13 def: "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:18059"} subset: predisposition synonym: "EIG13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611136] synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136] @@ -250902,6 +257045,7 @@ synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" RELATED [MON synonym: "susceptibility to idiopathic generalised epilepsy 13" EXACT OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 13" EXACT [OMIM:611136] xref: DOID:0111314 {source="MONDO:equivalentTo"} +xref: GARD:18059 {source="OMIM:611136"} xref: MESH:C567002 {source="MONDO:equivalentTo"} xref: OMIM:611136 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:611136"} @@ -250934,11 +257078,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012629 name: paroxysmal nonkinesigenic dyskinesia 2 def: "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." [DOID:0090047] +subset: gard_rare {source="GARD:15510"} synonym: "dystonia 20" RELATED [OMIM:611147] synonym: "paroxysmal nonkinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611147] synonym: "paroxysmal nonkinesigenic dyskinesia type 2" EXACT [DOID:0090047, MONDORULE:1] synonym: "PNKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611147] xref: DOID:0090047 {source="MONDO:equivalentTo"} +xref: GARD:15510 {source="OMIM:611147"} xref: ICD10CM:G24.8 {source="DOID:0090047"} xref: MESH:C567001 {source="MONDO:equivalentTo"} xref: OMIM:611147 {source="DOID:0090047", source="MONDO:equivalentTo"} @@ -250953,12 +257099,14 @@ property_value: confidence "1.486842105263158" xsd:double id: MONDO:0012630 name: Alzheimer disease 13 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." [DOID:0110046, PMID:17564960] +subset: gard_rare {source="GARD:16517"} synonym: "AD13" EXACT ABBREVIATION [DOID:0110046, MONDO:Lexical, OMIM:611152] synonym: "Alzheimer disease 13" EXACT [DOID:0110046, MONDO:Lexical, OMIM:611152] synonym: "Alzheimer disease-13" EXACT [OMIM:611152, OMIM:genemap2] synonym: "Alzheimer's disease 13" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 13" EXACT [DOID:0110046, MONDORULE:2] xref: DOID:0110046 {source="MONDO:equivalentTo"} +xref: GARD:16517 {source="OMIM:611152"} xref: ICD10CM:G30 {source="DOID:0110046"} xref: MESH:C567000 {source="MONDO:equivalentTo"} xref: OMIM:611152 {source="MONDO:equivalentTo", source="DOID:0110046"} @@ -250973,12 +257121,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012631 name: Alzheimer disease 14 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." [DOID:0110047, PMID:17564960] +subset: gard_rare {source="GARD:16518"} synonym: "AD14" EXACT ABBREVIATION [DOID:0110047, MONDO:Lexical, OMIM:611154] synonym: "Alzheimer disease 14" EXACT [DOID:0110047, MONDO:Lexical, OMIM:611154] synonym: "Alzheimer disease-14" EXACT [OMIM:611154, OMIM:genemap2] synonym: "Alzheimer's disease 14" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 14" EXACT [DOID:0110047, MONDORULE:2] xref: DOID:0110047 {source="MONDO:equivalentTo"} +xref: GARD:16518 {source="OMIM:611154"} xref: ICD10CM:G30 {source="DOID:0110047"} xref: MESH:C566999 {source="MONDO:equivalentTo"} xref: OMIM:611154 {source="MONDO:equivalentTo", source="DOID:0110047"} @@ -251005,12 +257155,14 @@ replaced_by: MONDO:0005136 [Term] id: MONDO:0012634 name: craniofacial dysplasia - osteopenia syndrome +subset: gard_rare {source="GARD:17422"} subset: ordo_malformation_syndrome {source="Orphanet:314555"} synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical, OMIM:611174] synonym: "Hamamy syndrome" EXACT [Orphanet:314555] synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [OMIM:611174] +xref: GARD:17422 {source="Orphanet:314555"} xref: MESH:C566988 {source="MONDO:equivalentTo"} xref: OMIM:611174 {source="Orphanet:314555", source="MONDO:equivalentTo", source="Orphanet:314555/e"} xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"} @@ -251024,6 +257176,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0012635 name: COG8-congenital disorder of glycosylation def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." [Orphanet:95428] +subset: gard_rare {source="GARD:12411"} subset: ordo_disease {source="Orphanet:95428"} synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428] synonym: "CDG IIh" RELATED [OMIM:611182] @@ -251037,6 +257190,7 @@ synonym: "congenital disorder of glycosylation type 2h" EXACT [Orphanet:95428] synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428] synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182] xref: DOID:0070260 {source="MONDO:equivalentTo"} +xref: GARD:12411 {source="Orphanet:95428"} xref: ICD10CM:E77.8 {source="Orphanet:95428/attributed", source="Orphanet:95428/ntbt", source="Orphanet:95428"} xref: MESH:C566987 {source="MONDO:equivalentTo"} xref: OMIM:611182 {source="Orphanet:95428/e", source="MONDO:equivalentTo", source="Orphanet:95428"} @@ -251071,6 +257225,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012637 name: COG1-congenital disorder of glycosylation def: "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." [Orphanet:263508] +subset: gard_rare {source="GARD:10226"} subset: ordo_disease {source="Orphanet:263508"} synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [Orphanet:263508] synonym: "CDG 2G" RELATED [GARD:0010226] @@ -251086,6 +257241,7 @@ synonym: "congenital disorder of glycosylation type 2g" EXACT [Orphanet:263508] synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508] synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209] xref: DOID:0070259 {source="MONDO:equivalentTo"} +xref: GARD:10226 {source="Orphanet:263508"} xref: ICD10CM:E77.8 {source="Orphanet:263508", source="Orphanet:263508/attributed", source="Orphanet:263508/ntbt"} xref: MESH:C535756 {source="MONDO:equivalentTo"} xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="Orphanet:263508/e"} @@ -251108,7 +257264,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012638 name: microphthalmia-brain atrophy syndrome def: "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." [Orphanet:77299] -subset: gard_rare +subset: gard_rare {source="GARD:9292"} subset: ordo_malformation_syndrome {source="Orphanet:77299"} synonym: "MCOPS10" EXACT ABBREVIATION [GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299] synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292, OMIM:611222] @@ -251118,6 +257274,7 @@ synonym: "MOBA" RELATED ABBREVIATION [GARD:0009292] synonym: "MOBA syndrome" EXACT [Orphanet:77299] synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299] xref: DOID:0111812 {source="MONDO:equivalentTo"} +xref: GARD:9292 {source="Orphanet:77299"} xref: ICD10CM:Q11.2 {source="Orphanet:77299/attributed", source="Orphanet:77299/ntbt", source="Orphanet:77299"} xref: MESH:C566985 {source="MONDO:equivalentTo"} xref: OMIM:611222 {source="GARD:0009292", source="Orphanet:77299/e", source="MONDO:equivalentTo", source="Orphanet:77299"} @@ -251136,6 +257293,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9292/microph id: MONDO:0012639 name: hereditary spastic paraplegia 18 def: "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." [Orphanet:209951] +subset: gard_rare {source="GARD:4922"} subset: ordo_disease {source="Orphanet:209951"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771] @@ -251149,6 +257307,7 @@ synonym: "spastic paraplegia 18" RELATED [GARD:0004922] synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611225] synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951] xref: DOID:0110771 {source="MONDO:equivalentTo"} +xref: GARD:4922 {source="Orphanet:209951"} xref: ICD10CM:G11.4 {source="Orphanet:209951/attributed", source="Orphanet:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"} xref: MESH:C567628 {source="MONDO:equivalentTo"} xref: OMIM:611225 {source="Orphanet:209951/e", source="MONDO:equivalentTo", source="DOID:0110771", source="Orphanet:209951"} @@ -251165,7 +257324,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012640 name: Charcot-Marie-Tooth disease type 4J def: "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:139515] -subset: gard_rare {source="GARD:0012443"} +subset: gard_rare {source="GARD:12443"} subset: ordo_disease {source="Orphanet:139515"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern] @@ -251174,6 +257333,7 @@ synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lex synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515] synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110184 {source="MONDO:equivalentTo"} +xref: GARD:12443 {source="Orphanet:139515"} xref: ICD10CM:G60.0 {source="Orphanet:139515/attributed", source="Orphanet:139515/ntbt", source="Orphanet:139515", source="DOID:0110184"} xref: MESH:C566984 {source="MONDO:equivalentTo"} xref: NCIT:C134954 {source="MONDO:equivalentTo"} @@ -251222,6 +257382,7 @@ is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MESH:C567073", source="MON id: MONDO:0012643 name: hereditary spastic paraplegia 32 def: "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." [Orphanet:171622] +subset: gard_rare {source="GARD:12749"} subset: ordo_disease {source="Orphanet:171622"} synonym: "autosomal recessive spastic paraplegia 32" EXACT [DOID:0110783] synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783] @@ -251230,6 +257391,7 @@ synonym: "spastic paraplegia 32" RELATED [GARD:0012749] synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611252] synonym: "SPG32" EXACT ABBREVIATION [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622] xref: DOID:0110783 {source="MONDO:equivalentTo"} +xref: GARD:12749 {source="Orphanet:171622"} xref: ICD10CM:G11.4 {source="Orphanet:171622/attributed", source="Orphanet:171622/ntbt", source="DOID:0110783", source="Orphanet:171622"} xref: MESH:C566983 {source="MONDO:equivalentTo"} xref: OMIM:611252 {source="Orphanet:171622/e", source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622"} @@ -251246,6 +257408,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012644 name: asphyxiating thoracic dystrophy 2 def: "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15511"} synonym: "asphyxiating thoracic dystrophy 2" EXACT [OMIM:611263] synonym: "asphyxiating thoracic dystrophy type 2" EXACT [DOID:0110086, MONDORULE:1] synonym: "ATD2" EXACT ABBREVIATION [DOID:0110086] @@ -251254,6 +257417,7 @@ synonym: "Jeune syndrome caused by mutation in IFT80" EXACT [MONDO:design_patter synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [DOID:0110086, MONDO:Lexical, OMIM:611263] synonym: "SRTD2" EXACT ABBREVIATION [DOID:0110086, MONDO:Lexical, OMIM:611263] xref: DOID:0110086 {source="MONDO:equivalentTo"} +xref: GARD:15511 {source="OMIM:611263"} xref: ICD10CM:Q77.2 {source="DOID:0110086"} xref: MESH:C566982 {source="MONDO:equivalentTo"} xref: OMIM:611263 {source="MONDO:equivalentTo", source="DOID:0110086"} @@ -251268,9 +257432,11 @@ property_value: confidence "0.7173913043478257" xsd:double [Term] id: MONDO:0012645 name: glaucoma 1, open angle, N +subset: gard_rare {source="GARD:18231"} synonym: "glaucoma 1, open angle, N" EXACT [MONDO:Lexical, OMIM:611274] synonym: "GLC1N" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611274] synonym: "JOAG1N" EXACT ABBREVIATION [] +xref: GARD:18231 {source="OMIM:611274"} xref: MESH:C566977 {source="MONDO:equivalentTo"} xref: OMIM:611274 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="OMIM:611274"} @@ -251300,7 +257466,7 @@ replaced_by: MONDO:0011891 id: MONDO:0012648 name: isobutyryl-CoA dehydrogenase deficiency def: "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." [Orphanet:79159] -subset: gard_rare {source="GARD:0010223"} +subset: gard_rare {source="GARD:10223"} subset: ordo_disease {source="Orphanet:79159"} synonym: "Acad8 deficiency" RELATED [OMIM:611283] synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [OMIM:611283] @@ -251308,6 +257474,7 @@ synonym: "acyl-CoaA dehydrogenase family, member 8, deficiency of" RELATED [GARD synonym: "IBD deficiency" RELATED [OMIM:611283] synonym: "isobutyric aciduria" EXACT [Orphanet:79159] synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [OMIM:611283] +xref: GARD:10223 {source="Orphanet:79159"} xref: ICD10CM:E71.1 {source="Orphanet:79159/attributed", source="Orphanet:79159/ntbt", source="Orphanet:79159"} xref: MESH:C535541 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"} xref: NCIT:C129975 {source="MONDO:equivalentTo"} @@ -251334,6 +257501,7 @@ replaced_by: MONDO:0044871 id: MONDO:0012650 name: Cernunnos-XLF deficiency def: "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." [Orphanet:169079] +subset: gard_rare {source="GARD:17045"} subset: ordo_disease {source="Orphanet:169079"} synonym: "Cernunnos deficiency" EXACT [Orphanet:169079] synonym: "Cernunnos XLFD" EXACT [Orphanet:169079] @@ -251350,6 +257518,7 @@ synonym: "severe combined immunodeficiency with microcephaly, growth retardation synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] synonym: "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] +xref: GARD:17045 {source="Orphanet:169079"} xref: ICD10CM:D81.1 {source="Orphanet:169079", source="Orphanet:169079/attributed", source="Orphanet:169079/ntbt"} xref: MESH:C566970 {source="MONDO:equivalentTo"} xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="Orphanet:169079/e"} @@ -251366,6 +257535,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012651 name: spastic ataxia 2 def: "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." [Orphanet:397946] +subset: gard_rare {source="GARD:17644"} subset: ordo_disease {source="Orphanet:397946"} synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946] synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946] @@ -251377,6 +257547,7 @@ synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1] synonym: "SPAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611302, Orphanet:397946] synonym: "SPG58" EXACT ABBREVIATION [Orphanet:397946] xref: DOID:0050941 {source="MONDO:equivalentTo"} +xref: GARD:17644 {source="Orphanet:397946"} xref: ICD10CM:G11.4 {source="Orphanet:397946/attributed", source="Orphanet:397946/ntbt", source="Orphanet:397946"} xref: MESH:C566969 {source="MONDO:equivalentTo"} xref: OMIM:611302 {source="Orphanet:397946/e", source="MONDO:equivalentTo", source="DOID:0050941", source="Orphanet:397946"} @@ -251394,6 +257565,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012652 name: autosomal recessive limb-girdle muscular dystrophy type 2L def: "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." [Orphanet:206549] +subset: gard_rare {source="GARD:12536"} subset: ordo_disease {source="Orphanet:206549"} synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern] @@ -251402,6 +257574,7 @@ synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:611307, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307] xref: DOID:0110284 {source="MONDO:equivalentTo"} +xref: GARD:12536 {source="Orphanet:206549"} xref: ICD10CM:G71.0 {source="Orphanet:206549/attributed", source="Orphanet:206549/ntbt", source="Orphanet:206549", source="DOID:0110284"} xref: MESH:C566968 {source="MONDO:equivalentTo"} xref: OMIM:611307 {source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284", source="Orphanet:206549/e"} @@ -251417,8 +257590,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012653 name: persistent hyperplastic primary vitreous, autosomal dominant +subset: gard_rare {source="GARD:18168"} synonym: "persistent hyperplastic primary vitreous, autosomal dominant" EXACT [MONDO:Lexical, OMIM:611308] synonym: "PHPVAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611308] +xref: GARD:18168 {source="OMIM:611308"} xref: OMIM:611308 {source="MONDO:equivalentTo"} xref: Orphanet:91495 {source="OMIM:611308"} xref: UMLS:C1969784 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611308"} @@ -251429,6 +257604,7 @@ property_value: confidence "6.142857142857143" xsd:double id: MONDO:0012654 name: atrial septal defect 4 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15512"} synonym: "ASD4" EXACT ABBREVIATION [DOID:0110109, MONDO:Lexical, OMIM:611363] synonym: "atrial heart septal defect caused by mutation in TBX20" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 4" EXACT [DOID:0110109, MONDORULE:1] @@ -251436,6 +257612,7 @@ synonym: "atrial septal defect 4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:61136 synonym: "atrial septal defect type 4" EXACT [MONDORULE:1, OMIM:611363] synonym: "TBX20 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110109 {source="MONDO:equivalentTo"} +xref: GARD:15512 {source="OMIM:611363"} xref: ICD10CM:Q21.1 {source="DOID:0110109"} xref: MESH:C566963 {source="MONDO:equivalentTo"} xref: OMIM:611363 {source="DOID:0110109", source="MONDO:equivalentTo"} @@ -251450,11 +257627,13 @@ property_value: confidence "4.000000000000001" xsd:double [Term] id: MONDO:0012655 name: myoclonic epilepsy, juvenile, susceptibility to, 4 +subset: gard_rare {source="GARD:15513"} subset: predisposition synonym: "EJM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611364] synonym: "myoclonic epilepsy, juvenile, 4" EXACT [OMIM:611364, OMIM:genemap2] synonym: "myoclonic epilepsy, juvenile, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:611364] xref: DOID:0111327 {source="MONDO:equivalentTo"} +xref: GARD:15513 {source="OMIM:611364"} xref: OMIM:611364 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:611364"} xref: UMLS:C1969656 {source="OMIM:611364", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -251468,7 +257647,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012656 name: lethal congenital contracture syndrome 3 def: "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." [Orphanet:137783] -subset: gard_rare {source="GARD:0012644"} +subset: gard_rare {source="GARD:12644"} subset: ordo_malformation_syndrome {source="Orphanet:137783"} synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060653] synonym: "LCCS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611369, Orphanet:137783] @@ -251479,6 +257658,7 @@ synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MO synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369] synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060653 {source="MONDO:equivalentTo"} +xref: GARD:12644 {source="Orphanet:137783"} xref: ICD10CM:Q68.8 {source="DOID:0060653", source="Orphanet:137783/attributed", source="Orphanet:137783/ntbt", source="Orphanet:137783"} xref: MESH:C566961 {source="MONDO:equivalentTo"} xref: OMIM:611369 {source="Orphanet:137783/e", source="MONDO:equivalentTo", source="Orphanet:137783"} @@ -251518,10 +257698,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012658 name: brachydactyly type B2 def: "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." [Orphanet:140908] +subset: gard_rare {source="GARD:16963"} subset: ordo_malformation_syndrome {source="Orphanet:140908"} synonym: "BDB2" EXACT ABBREVIATION [DOID:0110975, MONDO:Lexical, OMIM:611377] synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377] xref: DOID:0110975 {source="MONDO:equivalentTo"} +xref: GARD:16963 {source="Orphanet:140908"} xref: ICD10CM:Q73.8 {source="DOID:0110975", source="Orphanet:140908", source="Orphanet:140908/attributed", source="Orphanet:140908/ntbt"} xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="Orphanet:140908", source="Orphanet:140908/e"} xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"} @@ -251589,6 +257771,7 @@ relationship: predisposes_towards MONDO:0005445 {source="OMIM:611382"} ! viscera id: MONDO:0012662 name: Usher syndrome type 2D def: "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15514"} synonym: "USH2D" EXACT ABBREVIATION [DOID:0110840, MONDO:Lexical, OMIM:611383] synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type 2D" EXACT CLINGEN_PREFERRED [] @@ -251597,6 +257780,7 @@ synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383] synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383] synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110840 {source="MONDO:equivalentTo"} +xref: GARD:15514 {source="OMIM:611383"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110840"} xref: OMIM:611383 {source="MONDO:equivalentTo", source="DOID:0110840"} xref: Orphanet:231178 {source="OMIM:611383"} @@ -251628,6 +257812,7 @@ is_obsolete: true id: MONDO:0012664 name: spastic ataxia 3 def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17425"} subset: ordo_disease {source="Orphanet:314603"} synonym: "ARSAL" EXACT ABBREVIATION [Orphanet:314603] synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern] @@ -251638,6 +257823,7 @@ synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:61 synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1] synonym: "SPAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611390, Orphanet:314603] xref: DOID:0050942 {source="MONDO:equivalentTo"} +xref: GARD:17425 {source="Orphanet:314603"} xref: ICD10CM:G11.4 {source="Orphanet:314603/attributed", source="Orphanet:314603/ntbt", source="MONDO:relatedTo", source="Orphanet:314603"} xref: MESH:C566956 {source="MONDO:equivalentTo"} xref: OMIM:611390 {source="Orphanet:314603", source="DOID:0050942", source="MONDO:equivalentTo", source="Orphanet:314603/e"} @@ -251656,6 +257842,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0012665 name: cataract 33 def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18236"} synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391] synonym: "cataract 33, cortical" RELATED [OMIM:611391] @@ -251665,6 +257852,7 @@ synonym: "cortical cataract 33" NARROW [DOID:0110264] synonym: "CTRCT33" EXACT ABBREVIATION [DOID:0110264, MONDO:Lexical, OMIM:611391] synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern] xref: DOID:0110264 {source="MONDO:equivalentTo"} +xref: GARD:18236 {source="OMIM:611391"} xref: ICD10CM:Q12.0 {source="DOID:0110264"} xref: MESH:C566955 {source="MONDO:equivalentTo"} xref: OMIM:611391 {source="MONDO:equivalentTo", source="DOID:0110264"} @@ -251694,6 +257882,7 @@ is_a: MONDO:0010940 {source="MONDO:cjm"} ! inherited susceptibility to asthma id: MONDO:0012667 name: dilated cardiomyopathy 1W def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15515"} synonym: "cardiomyopathy, dilated, 1W" RELATED [MONDO:Lexical, OMIM:611407] synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4, OMIM:611407] synonym: "CMD1W" EXACT ABBREVIATION [DOID:0110446, MONDO:Lexical, OMIM:611407] @@ -251701,6 +257890,7 @@ synonym: "dilated cardiomyopathy type 1W" EXACT [DOID:0110446, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern] synonym: "VCL familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110446 {source="MONDO:equivalentTo"} +xref: GARD:15515 {source="OMIM:611407"} xref: ICD10CM:I42.0 {source="DOID:0110446"} xref: MESH:C566954 {source="MONDO:equivalentTo"} xref: OMIM:611407 {source="DOID:0110446", source="MONDO:equivalentTo"} @@ -251721,13 +257911,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012669 name: Legius syndrome def: "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." [Orphanet:137605] -subset: gard_rare {source="GARD:0010714"} +subset: gard_rare {source="GARD:10714"} subset: ordo_malformation_syndrome {source="Orphanet:137605"} synonym: "Legius syndrome" EXACT CLINGEN_PREFERRED [OMIM:611431] synonym: "neurofibromatosis 1-like syndrome" EXACT [Orphanet:137605] synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714] synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431] synonym: "NF1-like syndrome" EXACT [Orphanet:137605] +xref: GARD:10714 {source="Orphanet:137605"} xref: ICD10CM:Q85.0 {source="Orphanet:137605", source="Orphanet:137605/attributed", source="Orphanet:137605/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548032 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} @@ -251748,6 +257939,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10714/legius id: MONDO:0012670 name: autosomal recessive nonsyndromic hearing loss 63 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22627"} synonym: "autosomal recessive deafness 63" NARROW [DOID:0110515] synonym: "autosomal recessive nonsyndromic deafness 63" NARROW CLINGEN_PREFERRED [OMIM:611451] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" NARROW [MONDO:design_pattern] @@ -251757,6 +257949,7 @@ synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2, OMIM:61145 synonym: "DFNB63" NARROW ABBREVIATION [DOID:0110515, MONDO:Lexical, OMIM:611451] synonym: "LRTOMT autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110515 {source="MONDO:equivalentTo"} +xref: GARD:22627 {source="OMIM:611451"} xref: ICD10CM:H90.3 {source="DOID:0110515"} xref: MESH:C566951 {source="MONDO:equivalentTo"} xref: OMIM:611451 {source="DOID:0110515", source="MONDO:equivalentTo"} @@ -251851,7 +258044,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0012675 name: corticosteroid-binding globulin deficiency def: "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." [https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency] -subset: gard_rare {source="GARD:0013101"} +subset: gard_rare {source="GARD:13101"} subset: ordo_disease {source="Orphanet:199247"} synonym: "CBG deficiency" EXACT [DOID:0090030] synonym: "Cbg deficiency" RELATED [OMIM:611489] @@ -251860,6 +258053,7 @@ synonym: "corticosteroid-binding globulin, elevated" RELATED [OMIM:611489] synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247] synonym: "transcortin deficiency" EXACT [DOID:0090030] xref: DOID:0090030 {source="MONDO:equivalentTo"} +xref: GARD:13101 {source="Orphanet:199247"} xref: ICD10CM:E27.8 {source="DOID:0090030", source="Orphanet:199247", source="Orphanet:199247/attributed", source="Orphanet:199247/ntbt"} xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="Orphanet:199247", source="Orphanet:199247/e"} xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"} @@ -251875,7 +258069,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13101/cortic id: MONDO:0012676 name: autosomal recessive osteopetrosis 4 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0005993"} +subset: gard_rare {source="GARD:5993"} synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in CLCN7" EXACT [] synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1] @@ -251889,6 +258083,7 @@ synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611 synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:611490] synonym: "osteopetrosis, infantile malignant 2" RELATED [OMIM:611490] xref: DOID:0110944 {source="MONDO:equivalentTo"} +xref: GARD:5993 {source="OMIM:611490"} xref: MESH:C566933 {source="MONDO:equivalentTo"} xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:611490"} @@ -251907,11 +258102,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5993/osteope id: MONDO:0012677 name: atrial fibrillation, familial, 4 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15516"} synonym: "ATFB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611493] synonym: "atrial fibrillation, familial, 4" EXACT [MONDO:Lexical, OMIM:611493] synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1, OMIM:611493] synonym: "familial atrial fibrillation caused by mutation in KCNE2" EXACT [MONDO:design_pattern] synonym: "KCNE2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15516 {source="OMIM:611493"} xref: MESH:C566244 {source="MONDO:equivalentTo"} xref: OMIM:611493 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:611493"} @@ -251924,8 +258121,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012678 name: atrial fibrillation, familial, 5 +subset: gard_rare {source="GARD:15517"} synonym: "ATFB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611494] synonym: "atrial fibrillation, familial, 5" EXACT [MONDO:Lexical, OMIM:611494] +xref: GARD:15517 {source="OMIM:611494"} xref: MESH:C566932 {source="MONDO:equivalentTo"} xref: OMIM:611494 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:611494"} @@ -251936,7 +258135,7 @@ is_a: MONDO:0018054 {source="DC-OMIM:611494", source="OMIM:611494"} ! familial a id: MONDO:0012679 name: autosomal recessive osteopetrosis 6 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0004156"} +subset: gard_rare {source="GARD:4156"} subset: ordo_malformation_syndrome {source="Orphanet:210110"} synonym: "autosomal recessive intermediate osteopetrosis" EXACT [Orphanet:210110] synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [DOID:0110945] @@ -251951,6 +258150,7 @@ synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:61 synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:611497] synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110945 {source="MONDO:equivalentTo"} +xref: GARD:4156 {source="Orphanet:210110"} xref: ICD10CM:Q78.2 {source="Orphanet:210110", source="Orphanet:210110/attributed", source="Orphanet:210110/ntbt"} xref: MESH:C566931 {source="MONDO:equivalentTo"} xref: OMIM:611497 {source="Orphanet:210110", source="DOID:0110945", source="MONDO:equivalentTo", source="Orphanet:210110/e"} @@ -252004,6 +258204,7 @@ id: MONDO:0012682 name: immunodeficiency 35 def: "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." [MONDO:patterns/disease_series_by_gene] comment: OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE. +subset: gard_rare {source="GARD:17514"} subset: ordo_disease {source="Orphanet:331226"} subset: predisposition synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [Orphanet:331226] @@ -252018,6 +258219,7 @@ synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial dis synonym: "TYK2 deficiency" EXACT [OMIM:611521] synonym: "tyrosine kinase 2 deficiency" EXACT [OMIM:611521] xref: DOID:0111989 {source="MONDO:equivalentTo"} +xref: GARD:17514 {source="Orphanet:331226"} xref: ICD10CM:D82.4 {source="Orphanet:331226", source="Orphanet:331226/attributed", source="Orphanet:331226/ntbt"} xref: MESH:C566928 {source="MONDO:equivalentTo"} xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="Orphanet:331226/e"} @@ -252033,7 +258235,7 @@ id: MONDO:0012683 name: pontocerebellar hypoplasia type 6 def: "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." [Orphanet:166073] subset: clingen -subset: gard_rare {source="GARD:0010710"} +subset: gard_rare {source="GARD:10710"} subset: ordo_malformation_syndrome {source="Orphanet:166073"} synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710] synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523] @@ -252044,6 +258246,7 @@ synonym: "pontocerebellar hypoplasia type 6" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523] synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060275 {source="MONDO:equivalentTo"} +xref: GARD:10710 {source="Orphanet:166073"} xref: ICD10CM:Q04.3 {source="Orphanet:166073/attributed", source="Orphanet:166073/ntbt", source="Orphanet:166073"} xref: MESH:C548074 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: OMIM:611523 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} @@ -252113,10 +258316,12 @@ is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MESH:C567075", source="MON [Term] id: MONDO:0012687 name: familial cavitary optic disk anomaly +subset: gard_rare {source="GARD:17822"} subset: ordo_morphological_anomaly {source="Orphanet:464760"} synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical, OMIM:611543] synonym: "CODA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611543] synonym: "familial CODA" EXACT [Orphanet:464760] +xref: GARD:17822 {source="Orphanet:464760"} xref: MESH:C566924 {source="MONDO:equivalentTo"} xref: OMIM:611543 {source="Orphanet:464760", source="MONDO:equivalentTo", source="Orphanet:464760/e"} xref: Orphanet:464760 {source="MONDO:equivalentTo"} @@ -252177,7 +258382,7 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0012690 name: Noonan syndrome 5 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010700"} +subset: gard_rare {source="GARD:10700"} synonym: "Noonan syndrome 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:611553] synonym: "Noonan syndrome caused by mutation in RAF1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 5" EXACT [DOID:0060583, MONDORULE:1, OMIM:611553] @@ -252185,6 +258390,7 @@ synonym: "NS5" EXACT ABBREVIATION [DOID:0060583, MONDO:Lexical, OMIM:611553] synonym: "RAF1 gene related Noonan syndrome" RELATED [GARD:0010700] synonym: "RAF1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060583 {source="MONDO:equivalentTo"} +xref: GARD:10700 {source="OMIM:611553"} xref: MESH:C548083 {source="MONDO:equivalentTo"} xref: NCIT:C176933 {source="MONDO:equivalentTo"} xref: OMIM:611553 {source="DOID:0060583", source="MONDO:equivalentTo"} @@ -252201,11 +258407,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10700/noonan id: MONDO:0012691 name: LEOPARD syndrome 2 def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15518"} synonym: "LEOPARD syndrome 2" EXACT CLINGEN_PREFERRED [OMIM:611554] synonym: "leopard syndrome 2" EXACT [MONDO:Lexical, OMIM:611554] synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1, OMIM:611554] synonym: "LPRD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611554] xref: DOID:0080549 {source="MONDO:equivalentTo"} +xref: GARD:15518 {source="OMIM:611554"} xref: MESH:C537117 {source="MONDO:equivalentTo"} xref: OMIM:611554 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="OMIM:611554"} @@ -252231,6 +258439,7 @@ is_a: MONDO:0003847 {source="MESH:C566918/inferred"} ! hereditary disease id: MONDO:0012693 name: glycogen storage disease due to muscle and heart glycogen synthase deficiency def: "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." [https://orcid.org/0000-0001-5208-3432, Orphanet:137625] +subset: gard_rare {source="GARD:10760"} subset: ordo_disease {source="Orphanet:137625"} synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556] synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern] @@ -252245,6 +258454,7 @@ synonym: "GSD0B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611556] synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556] synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556] +xref: GARD:10760 {source="Orphanet:137625"} xref: ICD10CM:E74.0 {source="Orphanet:137625", source="Orphanet:137625/attributed", source="Orphanet:137625/ntbt"} xref: MESH:C566917 {source="MONDO:equivalentTo"} xref: OMIM:611556 {source="MONDO:equivalentTo", source="Orphanet:137625", source="Orphanet:137625/e"} @@ -252260,12 +258470,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012694 name: Joubert syndrome 7 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15519"} synonym: "JBTS7" EXACT ABBREVIATION [DOID:0111002, MONDO:Lexical, OMIM:611560] synonym: "Joubert syndrome 7" EXACT [MONDO:Lexical, OMIM:611560] synonym: "Joubert syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 7" EXACT [DOID:0111002, MONDORULE:1, OMIM:611560] synonym: "RPGRIP1L Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111002 {source="MONDO:equivalentTo"} +xref: GARD:15519 {source="OMIM:611560"} xref: MESH:C566916 {source="MONDO:equivalentTo"} xref: NCIT:C159653 {source="MONDO:equivalentTo"} xref: OMIM:611560 {source="MONDO:equivalentTo", source="DOID:0111002"} @@ -252281,6 +258493,7 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0012695 name: Meckel syndrome, type 5 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15520"} synonym: "Meckel syndrome 5" RELATED [DOID:0070119] synonym: "Meckel syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 5" EXACT [MONDO:Lexical, OMIM:611561] @@ -252288,6 +258501,7 @@ synonym: "Meckel-Gruber syndrome, type 5" EXACT [DOID:0070119] synonym: "MKS5" EXACT ABBREVIATION [DOID:0070119, MONDO:Lexical, OMIM:611561] synonym: "RPGRIP1L Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070119 {source="MONDO:equivalentTo"} +xref: GARD:15520 {source="OMIM:611561"} xref: ICD10CM:Q61.9 {source="DOID:0070119"} xref: MESH:C566915 {source="MONDO:equivalentTo"} xref: OMIM:611561 {source="MONDO:equivalentTo", source="DOID:0070119"} @@ -252329,6 +258543,7 @@ is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMI id: MONDO:0012698 name: Waardenburg syndrome type 2E def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15521"} synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [DOID:0110956] synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [OMIM:611584] synonym: "SOX10 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -252341,6 +258556,7 @@ synonym: "WS2E" EXACT ABBREVIATION [DOID:0110956, MONDO:Lexical, OMIM:611584] synonym: "WS2E with or without neurological involvement" EXACT [DOID:0110956] synonym: "Ws2E, with or without neurologic involvement" RELATED [OMIM:611584] xref: DOID:0110956 {source="MONDO:equivalentTo"} +xref: GARD:15521 {source="OMIM:611584"} xref: OMIM:611584 {source="DOID:0110956", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:611584"} xref: Orphanet:895 {source="OMIM:611584"} @@ -252357,6 +258573,7 @@ property_value: confidence "0.058201058201058364" xsd:double id: MONDO:0012699 name: autosomal recessive limb-girdle muscular dystrophy type 2M def: "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." [Orphanet:206554] +subset: gard_rare {source="GARD:12538"} subset: ordo_disease {source="Orphanet:206554"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN" EXACT [MONDO:design_pattern] synonym: "FKTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -252368,6 +258585,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [OMIM:611588] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [DOID:0110296] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588] xref: DOID:0110296 {source="MONDO:equivalentTo"} +xref: GARD:12538 {source="Orphanet:206554"} xref: ICD10CM:G71.0 {source="Orphanet:206554/attributed", source="Orphanet:206554/ntbt", source="DOID:0110296", source="Orphanet:206554"} xref: MESH:C566912 {source="MONDO:equivalentTo"} xref: OMIM:611588 {source="Orphanet:206554/e", source="MONDO:equivalentTo", source="DOID:0110296", source="Orphanet:206554"} @@ -252389,6 +258607,7 @@ property_value: confidence "21.666666666666735" xsd:double id: MONDO:0012700 name: renal tubular acidosis, distal, 4, with hemolytic anemia def: "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." [Orphanet:93610] +subset: gard_rare {source="GARD:12354"} subset: ordo_clinical_subtype {source="Orphanet:93610"} synonym: "distal renal tubular acidosis 4 with hemolytic anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [OMIM:611590, OMIM:genemap2] @@ -252401,6 +258620,7 @@ synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:6 synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590] synonym: "RTA, distal, autosomal recessive, with hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590] +xref: GARD:12354 {source="Orphanet:93610"} xref: ICD10CM:N25.8 {source="Orphanet:93610", source="Orphanet:93610/attributed", source="Orphanet:93610/ntbt"} xref: OMIM:611590 {source="MONDO:equivalentTo", source="Orphanet:93610", source="Orphanet:93610/e"} xref: Orphanet:18 {source="OMIM:611590"} @@ -252454,9 +258674,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012703 name: lissencephaly due to TUBA1A mutation def: "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." [Orphanet:171680] +subset: gard_rare {source="GARD:17066"} subset: ordo_malformation_syndrome {source="Orphanet:171680"} synonym: "LIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611603] synonym: "lissencephaly 3" EXACT [MONDO:Lexical, OMIM:611603] +xref: GARD:17066 {source="Orphanet:171680"} xref: ICD10CM:Q04.3 {source="Orphanet:171680/attributed", source="Orphanet:171680/ntbt", source="Orphanet:171680"} xref: MESH:C566908 {source="MONDO:equivalentTo"} xref: NCIT:C148461 {source="MONDO:equivalentTo"} @@ -252473,6 +258695,7 @@ property_value: confidence "3.1611111111111105" xsd:double id: MONDO:0012704 name: dilated cardiomyopathy 1X def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15522"} synonym: "cardiomyopathy, dilated, 1X" RELATED [MONDO:Lexical, OMIM:611615] synonym: "cardiomyopathy, dilated, type 1X" EXACT [MONDORULE:4, OMIM:611615] synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" RELATED [OMIM:611615] @@ -252482,6 +258705,7 @@ synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT synonym: "familial isolated dilated cardiomyopathy caused by mutation in FKTN" EXACT [MONDO:design_pattern] synonym: "FKTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110444 {source="MONDO:equivalentTo"} +xref: GARD:15522 {source="OMIM:611615"} xref: ICD10CM:I42.0 {source="DOID:0110444"} xref: MESH:C566907 {source="MONDO:equivalentTo"} xref: OMIM:611615 {source="MONDO:equivalentTo", source="DOID:0110444"} @@ -252494,6 +258718,7 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0012705 name: familial temporal lobe epilepsy 3 +subset: gard_rare {source="GARD:18279"} synonym: "epilepsy, familial mesial temporal lobe" RELATED [OMIM:611630] synonym: "epilepsy, familial temporal lobe, 3" RELATED [MONDO:Lexical, OMIM:611630] synonym: "ETL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611630] @@ -252501,6 +258726,7 @@ synonym: "familial mesial temporal lobe epilepsy" EXACT [DOID:0060750] synonym: "familial temporal lobe epilepsy type 3" EXACT [DOID:0060750, MONDORULE:1] synonym: "FMTLE" EXACT ABBREVIATION [DOID:0060750] xref: DOID:0060750 {source="MONDO:equivalentTo"} +xref: GARD:18279 {source="OMIM:611630"} xref: MESH:C566903 {source="MONDO:equivalentTo"} xref: OMIM:611630 {source="DOID:0060750", source="MONDO:equivalentTo"} xref: Orphanet:163717 {source="DOID:0060750", source="OMIM:611630"} @@ -252511,6 +258737,7 @@ is_a: MONDO:0005115 {source="DOID:0060750", source="OMIM:611630"} ! temporal lob id: MONDO:0012706 name: familial temporal lobe epilepsy 4 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22." [DOID:0060753, PMID:17460155, PMID:18332351] +subset: gard_rare {source="GARD:15523"} synonym: "epilepsy, familial temporal lobe, 4" RELATED [MONDO:Lexical, OMIM:611631] synonym: "epilepsy, occipitotemporal lobe, and migraine with aura" RELATED [OMIM:611631] synonym: "EPOLM" RELATED ABBREVIATION [DOID:0060753] @@ -252518,6 +258745,7 @@ synonym: "ETL4" EXACT ABBREVIATION [DOID:0060753, MONDO:Lexical, OMIM:611631] synonym: "familial temporal lobe epilepsy type 4" EXACT [DOID:0060753, MONDORULE:1] synonym: "occipitotemporal lobe epilepsy and migraine with aura" RELATED [DOID:0060753] xref: DOID:0060753 {source="MONDO:equivalentTo"} +xref: GARD:15523 {source="OMIM:611631"} xref: MESH:C566902 {source="MONDO:equivalentTo"} xref: OMIM:611631 {source="MONDO:equivalentTo", source="DOID:0060753"} xref: Orphanet:98819 {source="OMIM:611631", source="DOID:0060753"} @@ -252555,6 +258783,7 @@ property_value: confidence "1.8997867803837951" xsd:double id: MONDO:0012709 name: microphthalmia, isolated, with coloboma 5 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15524"} synonym: "MCOPCB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611638] synonym: "microphthalmia with coloboma 5" EXACT [OMIM:611638, OMIM:genemap2] synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical, OMIM:611638] @@ -252563,6 +258792,7 @@ synonym: "microphthalmia, isolated, with coloboma caused by mutation in Shh" EXA synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1, OMIM:611638] synonym: "SHH microphthalmia, isolated, with coloboma" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Shh microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] +xref: GARD:15524 {source="OMIM:611638"} xref: MESH:C566899 {source="MONDO:equivalentTo"} xref: OMIM:611638 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:611638"} @@ -252577,9 +258807,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012710 name: Hirschsprung disease, susceptibility to, 9 +subset: gard_rare {source="GARD:15525"} subset: predisposition synonym: "Hirschsprung disease, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:611644] synonym: "HSCR9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611644] +xref: GARD:15525 {source="OMIM:611644"} xref: OMIM:611644 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:611644"} xref: UMLS:C1968840 {source="OMIM:611644", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -252612,7 +258844,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012713 name: spondylometaphyseal dysplasia, East African type -subset: gard_rare {source="GARD:0004992"} synonym: "spondylometaphyseal dysplasia East-African type" RELATED [GARD:0004992] synonym: "spondylometaphyseal dysplasia, East African type" EXACT [OMIM:611702] xref: DOID:0112302 {source="MONDO:equivalentTo"} @@ -252625,12 +258856,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4992/spondyl [Term] id: MONDO:0012714 name: early-onset myopathy with fatal cardiomyopathy +subset: gard_rare {source="GARD:17324"} subset: ordo_disease {source="Orphanet:289377"} synonym: "EOMFC" RELATED ABBREVIATION [OMIM:611705] synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705] synonym: "Salih myopathy" EXACT [Orphanet:289377] synonym: "SALMY" RELATED ABBREVIATION [OMIM:611705] xref: DOID:0081341 {source="MONDO:equivalentTo"} +xref: GARD:17324 {source="Orphanet:289377"} xref: ICD10CM:G71.8 {source="Orphanet:289377/attributed", source="Orphanet:289377/ntbt", source="Orphanet:289377"} xref: MESH:C567129 {source="MONDO:equivalentTo"} xref: OMIM:611705 {source="Orphanet:289377", source="MONDO:equivalentTo", source="Orphanet:289377/e"} @@ -252660,6 +258893,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012716 name: spondyloepiphyseal dysplasia, Cantu type def: "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." [Orphanet:163654] +subset: gard_rare {source="GARD:10629"} subset: ordo_disease {source="Orphanet:163654"} synonym: "fantasy Island syndrome" RELATED [OMIM:611717] synonym: "SED-BDS" EXACT [Orphanet:163654] @@ -252669,6 +258903,7 @@ synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" E synonym: "Tatoo dysplasia" RELATED [OMIM:611717] synonym: "tattoo dysplasia" EXACT [Orphanet:163654] xref: DOID:0112287 {source="MONDO:equivalentTo"} +xref: GARD:10629 {source="Orphanet:163654"} xref: ICD10CM:Q77.7 {source="Orphanet:163654", source="Orphanet:163654/attributed", source="Orphanet:163654/ntbt"} xref: MESH:C567128 {source="MONDO:equivalentTo"} xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="Orphanet:163654/e"} @@ -252707,6 +258942,7 @@ property_value: confidence "5.000000000000001" xsd:double id: MONDO:0012718 name: hypotonia with lactic acidemia and hyperammonemia def: "This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia." [Orphanet:137908] +subset: gard_rare {source="GARD:16950"} subset: ordo_disease {source="Orphanet:137908"} synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908] synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719] @@ -252715,6 +258951,7 @@ synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE synonym: "COXPD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611719, Orphanet:137908] synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111473 {source="MONDO:equivalentTo"} +xref: GARD:16950 {source="Orphanet:137908"} xref: ICD10CM:E88.8 {source="Orphanet:137908/attributed", source="Orphanet:137908/ntbt", source="Orphanet:137908"} xref: MESH:C567126 {source="MONDO:equivalentTo"} xref: OMIM:611719 {source="Orphanet:137908/e", source="MONDO:equivalentTo", source="Orphanet:137908"} @@ -252733,7 +258970,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012719 name: combined PSAP deficiency def: "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." [Orphanet:139406] -subset: gard_rare {source="GARD:0012505"} +subset: gard_rare {source="GARD:12505"} subset: ordo_disease {source="Orphanet:139406"} synonym: "combined prosaposin deficiency" EXACT [Orphanet:139406] synonym: "combined SAP deficiency" RELATED [GARD:0012505] @@ -252743,6 +258980,7 @@ synonym: "encephalopathy due to prosaposin deficiency" EXACT [Orphanet:139406] synonym: "prosaposin deficiency" RELATED [OMIM:611721] synonym: "PSAPD" RELATED ABBREVIATION [GARD:0012505] xref: DOID:0111330 {source="MONDO:equivalentTo"} +xref: GARD:12505 {source="Orphanet:139406"} xref: ICD10CM:E75.2 {source="Orphanet:139406/attributed", source="Orphanet:139406/ntbt", source="Orphanet:139406"} xref: MESH:C567125 {source="MONDO:equivalentTo"} xref: OMIM:611721 {source="Orphanet:139406", source="MONDO:equivalentTo", source="Orphanet:139406/e"} @@ -252760,7 +258998,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12505/enceph [Term] id: MONDO:0012720 name: Krabbe disease due to saposin A deficiency -subset: gard_rare {source="GARD:0010289"} synonym: "Krabbe disease, atypical" EXACT [OMIM:611722, OMIM:genemap2] synonym: "Krabbe disease, atypical due to saposin A deficiency" EXACT [GARD:0010289] synonym: "Krabbe disease, atypical, due to saposin A deficiency" EXACT [OMIM:611722] @@ -252782,7 +259019,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10289/krabbe id: MONDO:0012721 name: progressive myoclonic epilepsy type 3 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0002167"} +subset: gard_rare {source="GARD:2167"} subset: ordo_disease {source="Orphanet:263516"} synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [OMIM:611726] synonym: "epilepsy progressive myoclonic type 3" RELATED [GARD:0002167] @@ -252798,6 +259035,7 @@ synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphane synonym: "progressive myoclonic epilepsy type 3" EXACT CLINGEN_PREFERRED [] synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] xref: DOID:0111446 {source="MONDO:equivalentTo"} +xref: GARD:2167 {source="Orphanet:263516"} xref: ICD10CM:G40.3 {source="Orphanet:263516/attributed", source="Orphanet:263516/ntbt", source="Orphanet:263516"} xref: MESH:C567095 {source="MONDO:equivalentTo"} xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", source="Orphanet:263516"} @@ -252817,7 +259055,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2167/epileps [Term] id: MONDO:0012722 name: Dauwerse-Peters syndrome -subset: gard_rare {source="GARD:0010568"} synonym: "Dauwerse-Peters syndrome" EXACT [OMIM:611733] synonym: "short stature, facial dysmorphism, severe brachydactyly and syndactyly" RELATED [GARD:0010568] synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly" RELATED [OMIM:611733] @@ -252831,7 +259068,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10568/dauwer id: MONDO:0012723 name: Leber congenital amaurosis 10 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010487"} +subset: gard_rare {source="GARD:10487"} synonym: "amaurosis congenita of Leber, type 10" RELATED [GARD:0010487] synonym: "CEP290 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA10" EXACT ABBREVIATION [DOID:0110291, MONDO:Lexical, OMIM:611755] @@ -252839,6 +259076,7 @@ synonym: "Leber congenital amaurosis 10" EXACT [MONDO:Lexical, OMIM:611755] synonym: "Leber congenital amaurosis caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 10" EXACT [DOID:0110291, MONDORULE:2, OMIM:611755] xref: DOID:0110291 {source="MONDO:equivalentTo"} +xref: GARD:10487 {source="OMIM:611755"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110291"} xref: MESH:C565720 {source="MONDO:equivalentTo"} xref: OMIM:611755 {source="DOID:0110291", source="MONDO:equivalentTo"} @@ -252856,6 +259094,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10487/leber- id: MONDO:0012724 name: familial cold autoinflammatory syndrome 2 def: "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." [NCIT:C119043] +subset: gard_rare {source="GARD:17201"} subset: ordo_disease {source="Orphanet:247868"} synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern] @@ -252866,6 +259105,7 @@ synonym: "NAPS12" EXACT ABBREVIATION [Orphanet:247868] synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063] xref: DOID:0090063 {source="MONDO:equivalentTo"} +xref: GARD:17201 {source="Orphanet:247868"} xref: ICD10CM:E85.0 {source="DOID:0090063", source="Orphanet:247868", source="Orphanet:247868/attributed", source="Orphanet:247868/ntbt"} xref: MESH:C567090 {source="MONDO:equivalentTo"} xref: NCIT:C119043 {source="MONDO:equivalentTo"} @@ -252883,9 +259123,11 @@ property_value: confidence "12.055555555555555" xsd:double [Term] id: MONDO:0012725 name: lipoprotein glomerulopathy +subset: gard_rare {source="GARD:17504"} subset: ordo_disease {source="Orphanet:329481"} synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771] synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481] +xref: GARD:17504 {source="Orphanet:329481"} xref: ICD10CM:N07.8 {source="Orphanet:329481/attributed", source="Orphanet:329481/ntbt", source="Orphanet:329481"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -252903,12 +259145,14 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0012726 name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome def: "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229] +subset: gard_rare {source="GARD:10889"} subset: ordo_disease {source="Orphanet:73229"} synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" EXACT [MONDO:Lexical, OMIM:611773] synonym: "HANAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611773] synonym: "HANAC syndrome" EXACT [Orphanet:73229] synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889] synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229] +xref: GARD:10889 {source="Orphanet:73229"} xref: ICD10CM:I99 {source="Orphanet:73229", source="Orphanet:73229/attributed", source="Orphanet:73229/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567088 {source="MONDO:equivalentTo"} @@ -252928,6 +259172,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012727 name: mucocutaneous lymph node syndrome def: "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." [Orphanet:2331] +subset: gard_rare {source="GARD:6816"} subset: ordo_disease {source="Orphanet:2331"} synonym: "acute febrile MCLS" EXACT [DOID:13378] synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378] @@ -252942,6 +259187,7 @@ synonym: "MLNS" EXACT ABBREVIATION [DOID:13378] synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orphanet:2331] xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"} xref: EFO:0004246 {source="MONDO:equivalentTo", source="DOID:13378"} +xref: GARD:6816 {source="Orphanet:2331"} xref: ICD10CM:M30.3 {source="Orphanet:2331", source="Orphanet:2331/e", source="DOID:13378"} xref: ICD9:446.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13378"} xref: MedDRA:10023320 {source="Orphanet:2331", source="Orphanet:2331/e"} @@ -252964,12 +259210,14 @@ property_value: confidence "3.9999999999999956" xsd:double id: MONDO:0012728 name: Brugada syndrome 2 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15526"} synonym: "BRGDA2" EXACT ABBREVIATION [DOID:0110219, MONDO:Lexical, OMIM:611777] synonym: "Brugada syndrome 2" EXACT [MONDO:Lexical, OMIM:611777] synonym: "Brugada syndrome caused by mutation in GPD1L" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 2" EXACT [DOID:0110219, MONDORULE:1, OMIM:611777] synonym: "GPD1L Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110219 {source="MONDO:equivalentTo"} +xref: GARD:15526 {source="OMIM:611777"} xref: ICD10CM:I49.8 {source="DOID:0110219"} xref: MESH:C567087 {source="MONDO:equivalentTo"} xref: OMIM:611777 {source="DOID:0110219", source="MONDO:equivalentTo"} @@ -252984,12 +259232,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012729 name: erythrocytosis, familial, 4 def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18356"} synonym: "ECYT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611783] synonym: "EPAS1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis, familial, 4" EXACT [MONDO:Lexical, OMIM:611783] synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:611783] synonym: "familial polycythemia caused by mutation in EPAS1" EXACT [MONDO:design_pattern] xref: DOID:0080339 {source="MONDO:equivalentTo"} +xref: GARD:18356 {source="OMIM:611783"} xref: MESH:C567086 {source="MONDO:equivalentTo"} xref: OMIM:611783 {source="MONDO:equivalentTo", source="DOID:0080339"} xref: Orphanet:247511 {source="OMIM:611783"} @@ -253004,12 +259254,14 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0012730 name: aortic aneurysm, familial thoracic 6 def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15527"} synonym: "AAT6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611788] synonym: "ACTA2 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "aortic aneurysm, familial thoracic 6" EXACT [MONDO:Lexical, OMIM:611788] synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1, OMIM:611788] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2" EXACT [MONDO:design_pattern] synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [OMIM:611788] +xref: GARD:15527 {source="OMIM:611788"} xref: MESH:C567085 {source="MONDO:equivalentTo"} xref: OMIM:611788 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:611788"} @@ -253024,6 +259276,7 @@ property_value: confidence "0.014130103558823048" xsd:double id: MONDO:0012731 name: elliptocytosis 1 def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15528"} synonym: "4.1- trait" RELATED [OMIM:611804] synonym: "4.1-minus trait" RELATED [OMIM:611804] synonym: "EL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611804] @@ -253034,6 +259287,7 @@ synonym: "elliptocytosis-1" EXACT [OMIM:611804, OMIM:genemap2] synonym: "EPB41 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary elliptocytosis caused by mutation in EPB41" EXACT [MONDO:design_pattern] synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [OMIM:611804] +xref: GARD:15528 {source="OMIM:611804"} xref: MESH:C567520 {source="MONDO:equivalentTo"} xref: OMIM:611804 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="OMIM:611804"} @@ -253060,12 +259314,14 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0012733 name: autosomal recessive bestrophinopathy def: "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." [Orphanet:139455] +subset: gard_rare {source="GARD:10301"} subset: ordo_disease {source="Orphanet:139455"} synonym: "ARB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611809] synonym: "bestrophinopathy" EXACT [DOID:0050662] synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809] synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455] xref: DOID:0050662 {source="MONDO:equivalentTo"} +xref: GARD:10301 {source="Orphanet:139455"} xref: ICD10CM:H35.5 {source="Orphanet:139455/attributed", source="Orphanet:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"} xref: MESH:C567518 {source="MONDO:equivalentTo"} xref: OMIM:611809 {source="DOID:0050662", source="Orphanet:139455/e", source="MONDO:equivalentTo", source="Orphanet:139455"} @@ -253082,12 +259338,14 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0012734 name: SERKAL syndrome def: "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." [Orphanet:139466] +subset: gard_rare {source="GARD:10302"} subset: ordo_malformation_syndrome {source="Orphanet:139466"} synonym: "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" EXACT [NCIT:C123726] synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical, OMIM:611812] synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611812] synonym: "SERKAL syndrome" EXACT [OMIM:611812] synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466] +xref: GARD:10302 {source="Orphanet:139466"} xref: ICD10CM:Q87.8 {source="Orphanet:139466/attributed", source="Orphanet:139466/ntbt", source="Orphanet:139466"} xref: MESH:C567517 {source="MONDO:equivalentTo"} xref: NCIT:C123726 {source="MONDO:equivalentTo"} @@ -253103,6 +259361,7 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0012735 name: Temple-Baraitser syndrome def: "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:420561] +subset: gard_rare {source="GARD:9441"} subset: ordo_disease {source="Orphanet:420561"} synonym: "intellectual disability, severe, and absent nails of hallux and pollex" RELATED [OMIM:611816] synonym: "mental retardation, severe, and absent nails of hallux and pollex" RELATED DEPRECATED [OMIM:611816] @@ -253112,6 +259371,7 @@ synonym: "severe mental retardation and absent nails of hallux and pollex" RELAT synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816] synonym: "TMBTS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611816, Orphanet:420561] xref: EFO:0009062 {source="MONDO:equivalentTo"} +xref: GARD:9441 {source="Orphanet:420561"} xref: ICD10CM:Q87.2 {source="Orphanet:420561", source="Orphanet:420561/attributed", source="Orphanet:420561/ntbt"} xref: MESH:C567516 {source="MONDO:equivalentTo"} xref: OMIM:611816 {source="Orphanet:420561", source="MONDO:equivalentTo", source="Orphanet:420561/e"} @@ -253130,7 +259390,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0012736 name: long QT syndrome 9 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010435"} +subset: gard_rare {source="GARD:10435"} synonym: "CAV3 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:611818] synonym: "long QT syndrome 9" EXACT [MONDO:Lexical, OMIM:611818] @@ -253139,6 +259399,7 @@ synonym: "long QT syndrome caused by mutation in CAV3" EXACT [MONDO:design_patte synonym: "long QT syndrome type 9" EXACT [DOID:0110650, MONDORULE:1, OMIM:611818] synonym: "LQT9" EXACT ABBREVIATION [DOID:0110650, MONDO:Lexical, OMIM:611818] xref: DOID:0110650 {source="MONDO:equivalentTo"} +xref: GARD:10435 {source="OMIM:611818"} xref: ICD10CM:I45.8 {source="DOID:0110650"} xref: MESH:C567515 {source="MONDO:equivalentTo"} xref: OMIM:611818 {source="MONDO:equivalentTo", source="DOID:0110650"} @@ -253157,7 +259418,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10435/long-q id: MONDO:0012737 name: long QT syndrome 10 def: "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010436"} +subset: gard_rare {source="GARD:10436"} synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819] synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819] synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern] @@ -253165,6 +259426,7 @@ synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:61181 synonym: "LQT10" EXACT ABBREVIATION [DOID:0110651, MONDO:Lexical, OMIM:611819] synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110651 {source="MONDO:equivalentTo"} +xref: GARD:10436 {source="OMIM:611819"} xref: ICD10CM:I45.8 {source="DOID:0110651"} xref: MESH:C567514 {source="MONDO:equivalentTo"} xref: OMIM:611819 {source="MONDO:equivalentTo", source="DOID:0110651"} @@ -253184,13 +259446,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10436/long-q id: MONDO:0012738 name: long QT syndrome 11 def: "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010437"} +subset: gard_rare {source="GARD:10437"} synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820] synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820] synonym: "LQT11" EXACT ABBREVIATION [DOID:0110652, MONDO:Lexical, OMIM:611820] xref: DOID:0110652 {source="MONDO:equivalentTo"} +xref: GARD:10437 {source="OMIM:611820"} xref: ICD10CM:I45.8 {source="DOID:0110652"} xref: MESH:C567513 {source="MONDO:equivalentTo"} xref: OMIM:611820 {source="MONDO:equivalentTo", source="DOID:0110652"} @@ -253209,10 +259472,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10437/long-q id: MONDO:0012739 name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome def: "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." [Orphanet:139450] +subset: gard_rare {source="GARD:10300"} subset: ordo_malformation_syndrome {source="Orphanet:139450"} synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450] synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300] synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863] +xref: GARD:10300 {source="Orphanet:139450"} xref: ICD10CM:Q15.8 {source="Orphanet:139450/attributed", source="Orphanet:139450/ntbt", source="Orphanet:139450"} xref: MESH:C567512 {source="MONDO:equivalentTo"} xref: OMIM:611863 {source="Orphanet:139450/e", source="MONDO:equivalentTo", source="Orphanet:139450"} @@ -253228,6 +259493,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012740 name: chromosome 22q11.2 deletion syndrome, distal def: "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors." [Orphanet:261330] +subset: gard_rare {source="GARD:17245"} subset: ordo_malformation_syndrome {source="Orphanet:261330"} synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [OMIM:611867] synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413] @@ -253236,6 +259502,7 @@ synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330] synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330] xref: DECIPHER:72 {source="MONDO:equivalentTo"} xref: DOID:0060413 {source="MONDO:equivalentTo"} +xref: GARD:17245 {source="Orphanet:261330"} xref: ICD10CM:Q93.5 {source="Orphanet:261330/attributed", source="Orphanet:261330/ntbt", source="Orphanet:261330"} xref: MESH:C567511 {source="MONDO:equivalentTo"} xref: OMIM:611867 {source="Orphanet:261330", source="DOID:0060413", source="MONDO:equivalentTo", source="Orphanet:261330/e"} @@ -253254,11 +259521,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012741 name: prostate cancer, hereditary, 12 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15529"} synonym: "EHBP1 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial prostate cancer caused by mutation in EHBP1" EXACT [MONDO:design_pattern] synonym: "HPC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611868] synonym: "prostate cancer, hereditary, 12" EXACT [MONDO:Lexical, OMIM:611868] synonym: "prostate cancer, hereditary, type 12" EXACT [MONDORULE:2, OMIM:611868] +xref: GARD:15529 {source="OMIM:611868"} xref: MESH:C567510 {source="MONDO:equivalentTo"} xref: OMIM:611868 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="OMIM:611868"} @@ -253274,13 +259543,14 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012742 name: Brugada syndrome 3 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010361"} +subset: gard_rare {source="GARD:10361"} synonym: "BRGDA3" EXACT ABBREVIATION [DOID:0110220, MONDO:Lexical, OMIM:611875] synonym: "Brugada syndrome 3" EXACT [MONDO:Lexical, OMIM:611875] synonym: "Brugada syndrome caused by mutation in CACNA1C" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 3" EXACT [DOID:0110220, MONDORULE:1, OMIM:611875] synonym: "CACNA1C Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110220 {source="MONDO:equivalentTo"} +xref: GARD:10361 {source="OMIM:611875"} xref: ICD10CM:I49.8 {source="DOID:0110220"} xref: MESH:C567509 {source="MONDO:equivalentTo"} xref: OMIM:611875 {source="MONDO:equivalentTo", source="DOID:0110220"} @@ -253296,13 +259566,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10361/brugad id: MONDO:0012743 name: Brugada syndrome 4 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010362"} +subset: gard_rare {source="GARD:10362"} synonym: "BRGDA4" EXACT ABBREVIATION [DOID:0110221, MONDO:Lexical, OMIM:611876] synonym: "Brugada syndrome 4" EXACT [MONDO:Lexical, OMIM:611876] synonym: "Brugada syndrome caused by mutation in CACNB2" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 4" EXACT [DOID:0110221, MONDORULE:1, OMIM:611876] synonym: "CACNB2 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110221 {source="MONDO:equivalentTo"} +xref: GARD:10362 {source="OMIM:611876"} xref: ICD10CM:I49.8 {source="DOID:0110221"} xref: MESH:C567508 {source="MONDO:equivalentTo"} xref: OMIM:611876 {source="MONDO:equivalentTo", source="DOID:0110221"} @@ -253318,6 +259589,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10362/brugad id: MONDO:0012744 name: dilated cardiomyopathy 1Y def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15530"} synonym: "cardiomyopathy, dilated, 1Y" RELATED [MONDO:Lexical, OMIM:611878] synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4, OMIM:611878] synonym: "CMD1Y" EXACT ABBREVIATION [DOID:0110457, MONDO:Lexical, OMIM:611878] @@ -253326,6 +259598,7 @@ synonym: "familial isolated dilated cardiomyopathy caused by mutation in TPM1" E synonym: "left ventricular noncompaction 9" RELATED [OMIM:611878] synonym: "TPM1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110457 {source="MONDO:equivalentTo"} +xref: GARD:15530 {source="OMIM:611878"} xref: ICD10CM:I42.0 {source="DOID:0110457"} xref: MESH:C567507 {source="MONDO:equivalentTo"} xref: OMIM:611878 {source="DOID:0110457", source="MONDO:equivalentTo"} @@ -253340,6 +259613,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0012745 name: dilated cardiomyopathy 1Z def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15531"} synonym: "cardiomyopathy, dilated, 1Z" RELATED [MONDO:Lexical, OMIM:611879] synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4, OMIM:611879] synonym: "CMD1Z" EXACT ABBREVIATION [DOID:0110434, MONDO:Lexical, OMIM:611879] @@ -253347,6 +259621,7 @@ synonym: "dilated cardiomyopathy type 1Z" EXACT [DOID:0110434, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] synonym: "TNNC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110434 {source="MONDO:equivalentTo"} +xref: GARD:15531 {source="OMIM:611879"} xref: ICD10CM:I42.0 {source="DOID:0110434"} xref: MESH:C567506 {source="MONDO:equivalentTo"} xref: OMIM:611879 {source="DOID:0110434", source="MONDO:equivalentTo"} @@ -253360,6 +259635,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0012746 name: dilated cardiomyopathy 2A def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." [DOID:0110460, PMID:15070570] +subset: gard_rare {source="GARD:15532"} synonym: "cardiomyopathy, congestive, autosomal recessive" RELATED [OMIM:611880] synonym: "cardiomyopathy, dilated, 2A" RELATED [MONDO:Lexical, OMIM:611880] synonym: "cardiomyopathy, dilated, autosomal recessive" RELATED [OMIM:611880] @@ -253367,6 +259643,7 @@ synonym: "cardiomyopathy, dilated, type 2A" EXACT [MONDORULE:4, OMIM:611880] synonym: "CMD2A" EXACT ABBREVIATION [DOID:0110460, MONDO:Lexical, OMIM:611880] synonym: "dilated cardiomyopathy type 2A" EXACT [DOID:0110460, MONDORULE:4] xref: DOID:0110460 {source="MONDO:equivalentTo"} +xref: GARD:15532 {source="OMIM:611880"} xref: ICD10CM:I42.0 {source="DOID:0110460"} xref: OMIM:611880 {source="MONDO:equivalentTo", source="DOID:0110460"} xref: UMLS:C2678474 {source="OMIM:611880", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -253378,6 +259655,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0012747 name: glycogen storage disease due to aldolase A deficiency def: "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." [Orphanet:57] +subset: gard_rare {source="GARD:600"} subset: ordo_disease {source="Orphanet:57"} synonym: "Aldoa deficiency" RELATED [OMIM:611881] synonym: "aldolase a deficiency" RELATED [OMIM:611881] @@ -253397,6 +259675,7 @@ synonym: "GSD type 12" EXACT [Orphanet:57] synonym: "GSD type XII" EXACT [Orphanet:57] synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881] synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881] +xref: GARD:600 {source="Orphanet:57"} xref: ICD10CM:E74.0 {source="Orphanet:57/attributed", source="Orphanet:57/ntbt", source="Orphanet:57"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562718 {source="MONDO:equivalentTo"} @@ -253416,6 +259695,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012748 name: primary ciliary dyskinesia 7 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15533"} synonym: "CILD7" EXACT ABBREVIATION [DOID:0110605, MONDO:Lexical, OMIM:611884] synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical, OMIM:611884] synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [OMIM:611884] @@ -253426,6 +259706,7 @@ synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [DO synonym: "primary ciliary dyskinesia caused by mutation in DNAH11" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 7" EXACT [DOID:0110605, MONDORULE:1] xref: DOID:0110605 {source="MONDO:equivalentTo"} +xref: GARD:15533 {source="OMIM:611884"} xref: ICD10CM:Q34.8 {source="DOID:0110605"} xref: MESH:C567504 {source="MONDO:equivalentTo"} xref: OMIM:611884 {source="MONDO:equivalentTo", source="DOID:0110605"} @@ -253447,11 +259728,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012750 name: lethal arthrogryposis-anterior horn cell disease syndrome +subset: gard_rare {source="GARD:16658"} subset: ordo_malformation_syndrome {source="Orphanet:53696"} synonym: "congenital arthrogryposis with anterior horn cell disease" EXACT [OMIM:611890, OMIM:genemap2] synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611890, Orphanet:53696] synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890] synonym: "Vuopala disease" EXACT [Orphanet:53696] +xref: GARD:16658 {source="Orphanet:53696"} xref: MESH:C567502 {source="MONDO:equivalentTo"} xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="Orphanet:53696/e"} xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"} @@ -253465,9 +259748,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012751 name: aortic aneurysm, familial abdominal, 3 +subset: gard_rare {source="GARD:16493"} synonym: "AAA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611891] synonym: "aneurysm, familial abdominal 3" EXACT [OMIM:611891, OMIM:genemap2] synonym: "aortic aneurysm, familial abdominal, 3" EXACT [MONDO:Lexical, OMIM:611891] +xref: GARD:16493 {source="OMIM:611891"} xref: MESH:C567501 {source="MONDO:equivalentTo"} xref: OMIM:611891 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="OMIM:611891"} @@ -253479,9 +259764,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012752 name: aneurysm, intracranial berry, 6 +subset: gard_rare {source="GARD:18324"} synonym: "aneurysm, intracranial BERRY, 6" RELATED [MONDO:Lexical, OMIM:611892] synonym: "ANIB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611892] xref: DOID:0080969 {source="MONDO:equivalentTo"} +xref: GARD:18324 {source="OMIM:611892"} xref: MESH:C567500 {source="MONDO:equivalentTo"} xref: OMIM:611892 {source="MONDO:equivalentTo"} xref: UMLS:C2678469 {source="OMIM:611892", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -253492,13 +259779,14 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0012753 name: amyotrophic lateral sclerosis type 9 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010498"} +subset: gard_rare {source="GARD:10498"} synonym: "ALS9" EXACT ABBREVIATION [DOID:0060200, MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis 9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis caused by mutation in ANG" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 9" EXACT [MONDORULE:1, OMIM:611895] synonym: "ANG amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060200 {source="MONDO:equivalentTo"} +xref: GARD:10498 {source="OMIM:611895"} xref: MESH:C567499 {source="MONDO:equivalentTo"} xref: OMIM:611895 {source="DOID:0060200", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:611895"} @@ -253512,9 +259800,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10498/amyotr [Term] id: MONDO:0012754 name: nanophthalmos 3 +subset: gard_rare {source="GARD:18627"} synonym: "Nanophthalmia 3" RELATED [OMIM:611897] synonym: "nanophthalmos 3" EXACT [MONDO:Lexical, OMIM:611897] synonym: "NNO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611897] +xref: GARD:18627 {source="OMIM:611897"} xref: MESH:C567498 {source="MONDO:equivalentTo"} xref: OMIM:611897 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:611897"} @@ -253527,10 +259817,12 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0012755 name: episodic ataxia type 7 def: "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." [Orphanet:209970] +subset: gard_rare {source="GARD:17108"} subset: ordo_disease {source="Orphanet:209970"} synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611907] synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907] xref: DOID:0050995 {source="MONDO:equivalentTo"} +xref: GARD:17108 {source="Orphanet:209970"} xref: ICD10CM:G11.8 {source="Orphanet:209970", source="Orphanet:209970/attributed", source="Orphanet:209970/ntbt"} xref: MESH:C567459 {source="MONDO:equivalentTo"} xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="Orphanet:209970/e"} @@ -253544,7 +259836,7 @@ property_value: confidence "1.333333333333333" xsd:double id: MONDO:0012756 name: proximal 16p11.2 microdeletion syndrome def: "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." [Orphanet:261197] -subset: gard_rare +subset: gard_rare {source="GARD:10740"} subset: ordo_malformation_syndrome {source="Orphanet:261197"} subset: predisposition synonym: "16p11.2 deletion syndrome" RELATED [GARD:0010740] @@ -253558,6 +259850,7 @@ synonym: "microdeletion 16p11.2" RELATED [GARD:0010740] synonym: "monosomy 16p11.2" RELATED [GARD:0010740] synonym: "proximal del(16)(p11.2)" EXACT [Orphanet:261197] synonym: "proximal monosomy 16p11.2" EXACT [Orphanet:261197] +xref: GARD:10740 {source="Orphanet:261197"} xref: ICD10CM:Q93.5 {source="Orphanet:261197/attributed", source="Orphanet:261197/ntbt", source="Orphanet:261197"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579850 {source="MONDO:equivalentTo"} @@ -253585,8 +259878,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10740/16p112 id: MONDO:0012757 name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome def: "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." [Orphanet:137631] +subset: gard_rare {source="GARD:16947"} subset: ordo_disease {source="Orphanet:137631"} synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926] +xref: GARD:16947 {source="Orphanet:137631"} xref: ICD10CM:D82.8 {source="Orphanet:137631", source="Orphanet:137631/attributed", source="Orphanet:137631/ntbt"} xref: OMIM:611926 {source="Orphanet:137631", source="MONDO:equivalentTo", source="Orphanet:137631/e"} xref: Orphanet:137631 {source="MONDO:equivalentTo", source="OMIM:611926"} @@ -253602,11 +259897,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012758 name: prostate cancer, hereditary, 13 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15534"} synonym: "familial prostate cancer caused by mutation in MSMB" EXACT [MONDO:design_pattern] synonym: "HPC13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611928] synonym: "MSMB familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "prostate cancer, hereditary, 13" EXACT [MONDO:Lexical, OMIM:611928] synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2, OMIM:611928] +xref: GARD:15534 {source="OMIM:611928"} xref: MESH:C567456 {source="MONDO:equivalentTo"} xref: OMIM:611928 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="OMIM:611928"} @@ -253622,10 +259919,12 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012759 name: camptodactyly syndrome, Guadalajara type 3 def: "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." [Orphanet:488434] +subset: gard_rare {source="GARD:10573"} subset: ordo_malformation_syndrome synonym: "camptodactyly syndrome Guadalajara type 3" RELATED [GARD:0010573] synonym: "camptodactyly syndrome, Guadalajara, type 3" RELATED [OMIM:611929] synonym: "camptodactyly syndrome, Guadalajara, type III" RELATED [OMIM:611929] +xref: GARD:10573 {source="Orphanet:488434"} xref: MESH:C567455 {source="MONDO:equivalentTo"} xref: OMIM:611929 {source="Orphanet:488434", source="MONDO:equivalentTo"} xref: Orphanet:488434 {source="MONDO:equivalentTo"} @@ -253657,7 +259956,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012761 name: chromosome 3q29 microduplication syndrome def: "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." [https://orcid.org/0000-0002-0736-9199, PMID:18241066] -subset: gard_rare {source="GARD:0010360"} +subset: gard_rare {source="GARD:10360"} subset: ordo_malformation_syndrome {source="Orphanet:251038"} synonym: "3q29 microduplication" EXACT [DOID:0060459] synonym: "3q29 microduplication syndrome" EXACT [DECIPHER:77, Orphanet:251038] @@ -253666,6 +259965,7 @@ synonym: "microduplication 3Q29 syndrome" RELATED [OMIM:611936] synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038] xref: DECIPHER:77 {source="MONDO:equivalentTo"} xref: DOID:0060459 {source="MONDO:equivalentTo"} +xref: GARD:10360 {source="Orphanet:251038"} xref: MESH:C567626 {source="MONDO:equivalentTo", source="DOID:0060459"} xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="Orphanet:251038/e"} xref: Orphanet:251038 {source="MONDO:equivalentTo", source="DOID:0060459", source="OMIM:611936"} @@ -253683,6 +259983,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10360/chromo id: MONDO:0012762 name: catecholaminergic polymorphic ventricular tachycardia 2 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15535"} synonym: "CASQ2 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "catecholaminergic polymorphic ventricular tachycardia 2" EXACT CLINGEN_PREFERRED [] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2" EXACT [MONDO:design_pattern] @@ -253693,6 +259994,7 @@ synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2" RELATED [MO synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 2" EXACT [MONDORULE:1, OMIM:611938] synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:611938] xref: DOID:0060676 {source="MONDO:equivalentTo"} +xref: GARD:15535 {source="OMIM:611938"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060676"} xref: NCIT:C148368 {source="MONDO:equivalentTo"} xref: OMIM:611938 {source="MONDO:equivalentTo", source="DOID:0060676"} @@ -253707,6 +260009,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012763 name: epilepsy, childhood absence, susceptibility to, 6 def: "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:18060"} subset: predisposition synonym: "CACNA1H childhood absence epilepsy" RELATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "childhood absence epilepsy caused by mutation in CACNA1H" RELATED [MONDO:design_pattern] @@ -253715,6 +260018,7 @@ synonym: "epilepsy, childhood absence, susceptibility to, 6" EXACT [MONDO:Lexica synonym: "epilepsy, childhood absence, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611942] synonym: "epilepsy, idiopathic generalized, susceptibility to, 6" RELATED [OMIM:611942] synonym: "susceptibility to childhood absence epilepsy 6" EXACT [OMIM:611942] +xref: GARD:18060 {source="OMIM:611942"} xref: OMIM:611942 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:611942"} xref: UMLS:C2677793 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:611942"} @@ -253729,6 +260033,7 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0012764 name: RIDDLE syndrome def: "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." [DOID:0090113] +subset: gard_rare {source="GARD:17701"} subset: ordo_malformation_syndrome {source="Orphanet:420741"} synonym: "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" RELATED [OMIM:611943] synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [DOID:0090113, Orphanet:420741] @@ -253736,6 +260041,7 @@ synonym: "RIDDLE syndrome" EXACT CLINGEN_PREFERRED [OMIM:611943] synonym: "RNF168 deficiency" EXACT [DOID:0090113, Orphanet:420741] xref: DOID:0090113 {source="MONDO:equivalentTo"} xref: EFO:0009055 {source="MONDO:equivalentTo"} +xref: GARD:17701 {source="Orphanet:420741"} xref: ICD10CM:D82.8 {source="Orphanet:420741/attributed", source="Orphanet:420741/ntbt", source="Orphanet:420741", source="DOID:0090113"} xref: MESH:C567453 {source="MONDO:equivalentTo"} xref: OMIM:611943 {source="Orphanet:420741", source="DOID:0090113", source="MONDO:equivalentTo", source="Orphanet:420741/e"} @@ -253748,9 +260054,11 @@ property_value: confidence "33.28571428571429" xsd:double [Term] id: MONDO:0012765 name: lymphatic malformation 2 +subset: gard_rare {source="GARD:16453"} synonym: "LMPH1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611944] synonym: "lymphedema, hereditary, 1B" EXACT [MONDO:Lexical, OMIM:611944] xref: DOID:0070211 {source="MONDO:equivalentTo"} +xref: GARD:16453 {source="OMIM:611944"} xref: MESH:C567452 {source="MONDO:equivalentTo"} xref: OMIM:611944 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:611944"} @@ -253761,6 +260069,7 @@ is_a: MONDO:0019313 {source="OMIM:611944", source="Orphanet:79452/btnt"} ! lymph id: MONDO:0012766 name: hereditary spastic paraplegia 37 def: "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." [Orphanet:171612] +subset: gard_rare {source="GARD:17064"} subset: ordo_disease {source="Orphanet:171612"} synonym: "autosomal dominant spastic paraplegia 37" EXACT [DOID:0110788] synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788] @@ -253768,6 +260077,7 @@ synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE: synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945] synonym: "SPG37" EXACT ABBREVIATION [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612] xref: DOID:0110788 {source="MONDO:equivalentTo"} +xref: GARD:17064 {source="Orphanet:171612"} xref: ICD10CM:G11.4 {source="DOID:0110788", source="Orphanet:171612/attributed", source="Orphanet:171612/ntbt", source="Orphanet:171612"} xref: MESH:C567931 {source="MONDO:equivalentTo"} xref: OMIM:611945 {source="DOID:0110788", source="Orphanet:171612/e", source="MONDO:equivalentTo", source="Orphanet:171612"} @@ -253803,8 +260113,10 @@ property_value: confidence "1.4444444444444446" xsd:double [Term] id: MONDO:0012768 name: prostate cancer, hereditary, 11 +subset: gard_rare {source="GARD:15536"} synonym: "HPC11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611955] synonym: "prostate cancer, hereditary, 11" EXACT [MONDO:Lexical, OMIM:611955] +xref: GARD:15536 {source="OMIM:611955"} xref: MESH:C567449 {source="MONDO:equivalentTo"} xref: OMIM:611955 {source="MONDO:equivalentTo"} xref: UMLS:C2677773 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611955"} @@ -253815,8 +260127,10 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0012769 name: prostate cancer, hereditary, 14 +subset: gard_rare {source="GARD:15537"} synonym: "HPC14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611958] synonym: "prostate cancer, hereditary, 14" EXACT [MONDO:Lexical, OMIM:611958] +xref: GARD:15537 {source="OMIM:611958"} xref: MESH:C567448 {source="MONDO:equivalentTo"} xref: OMIM:611958 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="OMIM:611958"} @@ -253828,8 +260142,10 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0012770 name: prostate cancer, hereditary, 15 +subset: gard_rare {source="GARD:15538"} synonym: "HPC15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611959] synonym: "prostate cancer, hereditary, 15" EXACT [MONDO:Lexical, OMIM:611959] +xref: GARD:15538 {source="OMIM:611959"} xref: MESH:C567447 {source="MONDO:equivalentTo"} xref: OMIM:611959 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="OMIM:611959"} @@ -253879,6 +260195,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012774 name: chromosome 15q13.3 microdeletion syndrome def: "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." [Orphanet:199318] +subset: gard_rare {source="GARD:10296"} subset: ordo_malformation_syndrome {source="Orphanet:199318"} synonym: "15q13.3 microdeletion" RELATED [GARD:0010296] synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394] @@ -253889,6 +260206,7 @@ synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296] synonym: "monosomy 15q13.3" EXACT [Orphanet:199318] xref: DECIPHER:74 {source="MONDO:equivalentTo"} xref: DOID:0060394 {source="MONDO:equivalentTo"} +xref: GARD:10296 {source="Orphanet:199318"} xref: ICD10CM:Q93.5 {source="Orphanet:199318", source="Orphanet:199318/attributed", source="Orphanet:199318/ntbt", source="DOID:0060394"} xref: MESH:C567439 {source="MONDO:equivalentTo", source="DOID:0060394"} xref: OMIM:612001 {source="Orphanet:199318/e", source="MONDO:equivalentTo", source="Orphanet:199318", source="DOID:0060394"} @@ -253912,12 +260230,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012775 name: thrombocytopenia 4 def: "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18289"} synonym: "CYCS thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "THC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612004] synonym: "thrombocytopenia 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612004] synonym: "thrombocytopenia caused by mutation in CYCS" EXACT [MONDO:design_pattern] synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1, OMIM:612004] synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [OMIM:612004] +xref: GARD:18289 {source="OMIM:612004"} xref: MESH:C567438 {source="MONDO:equivalentTo"} xref: OMIM:612004 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="OMIM:612004"} @@ -254039,6 +260359,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012783 name: RFT1-congenital disorder of glycosylation def: "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." [Orphanet:244310] +subset: gard_rare {source="GARD:12394"} subset: ordo_disease {source="Orphanet:244310"} synonym: "carbohydrate deficient glycoprotein syndrome type In" EXACT [Orphanet:244310] synonym: "CDG in" RELATED [OMIM:612015] @@ -254054,6 +260375,7 @@ synonym: "RFT1-CDG" EXACT ABBREVIATION [Orphanet:244310] synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394] synonym: "RFT1-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080566 {source="MONDO:equivalentTo"} +xref: GARD:12394 {source="Orphanet:244310"} xref: ICD10CM:E77.8 {source="Orphanet:244310/attributed", source="Orphanet:244310/ntbt", source="Orphanet:244310"} xref: MESH:C567437 {source="MONDO:equivalentTo"} xref: OMIM:612015 {source="Orphanet:244310", source="MONDO:equivalentTo", source="Orphanet:244310/e"} @@ -254074,6 +260396,7 @@ property_value: confidence "12.055555555555557" xsd:double id: MONDO:0012784 name: autosomal recessive ataxia due to ubiquinone deficiency def: "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy." [Orphanet:139485] +subset: gard_rare {source="GARD:15539", source="GARD:10294"} subset: ordo_disease {source="Orphanet:139485"} synonym: "ARCA2" EXACT ABBREVIATION [Orphanet:139485] synonym: "autosomal recessive ataxia due to coenzyme Q10 deficiency" EXACT [Orphanet:139485] @@ -254086,6 +260409,8 @@ synonym: "COQ10D4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612016] synonym: "SCAR9" EXACT ABBREVIATION [Orphanet:139485] synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016] xref: DOID:0070241 {source="MONDO:equivalentTo"} +xref: GARD:10294 {source="Orphanet:139485"} +xref: GARD:15539 {source="OMIM:612016"} xref: ICD10CM:G11.1 {source="Orphanet:139485/attributed", source="Orphanet:139485/ntbt", source="Orphanet:139485"} xref: MESH:C567436 {source="MONDO:equivalentTo"} xref: OMIM:612016 {source="Orphanet:139485/e", source="MONDO:equivalentTo", source="Orphanet:139485"} @@ -254116,6 +260441,7 @@ property_value: confidence "3.8773052888279222" xsd:double id: MONDO:0012786 name: juvenile cataract-microcornea-renal glucosuria syndrome def: "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." [Orphanet:247794] +subset: gard_rare {source="GARD:17196"} subset: ordo_disease {source="Orphanet:247794"} synonym: "cataract 47" RELATED [OMIM:612018] synonym: "cataract 47, juvenile, with microcornea" EXACT [OMIM:612018, OMIM:genemap2] @@ -254126,6 +260452,7 @@ synonym: "CJMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612018] synonym: "CTRCT47" RELATED ABBREVIATION [OMIM:612018] synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070353 {source="MONDO:equivalentTo"} +xref: GARD:17196 {source="Orphanet:247794"} xref: MESH:C567434 {source="MONDO:equivalentTo"} xref: OMIM:612018 {source="Orphanet:247794/e", source="MONDO:equivalentTo", source="Orphanet:247794"} xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"} @@ -254142,6 +260469,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012787 name: hereditary spastic paraplegia 39 def: "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting." [Orphanet:139480] +subset: gard_rare {source="GARD:4924"} subset: ordo_disease {source="Orphanet:139480"} synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790] @@ -254157,6 +260485,7 @@ synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [ synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet:139480] synonym: "SPG39" EXACT ABBREVIATION [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480] xref: DOID:0110790 {source="MONDO:equivalentTo"} +xref: GARD:4924 {source="Orphanet:139480"} xref: ICD10CM:G11.4 {source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/attributed", source="Orphanet:139480/ntbt"} xref: MESH:C567433 {source="MONDO:equivalentTo"} xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/e"} @@ -254192,7 +260521,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012789 name: dystonia 16 def: "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." [Orphanet:210571] -subset: gard_rare {source="GARD:0010539"} +subset: gard_rare {source="GARD:10539"} subset: ordo_disease {source="Orphanet:210571"} synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067] synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2, OMIM:612067, Orphanet:210571] @@ -254203,6 +260532,7 @@ synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571] synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] xref: DOID:0090048 {source="MONDO:equivalentTo"} +xref: GARD:10539 {source="Orphanet:210571"} xref: ICD10CM:G24.1 {source="Orphanet:210571", source="Orphanet:210571/attributed", source="Orphanet:210571/ntbt", source="DOID:0090048"} xref: MESH:C567430 {source="MONDO:equivalentTo"} xref: NCIT:C168729 {source="MONDO:equivalentTo"} @@ -254225,7 +260555,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10539/dyston id: MONDO:0012790 name: amyotrophic lateral sclerosis type 10 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010497"} +subset: gard_rare {source="GARD:15540"} synonym: "ALS10" EXACT ABBREVIATION [DOID:0060201, MONDO:Lexical, OMIM:612069] synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201, OMIM:612069] synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:612069] @@ -254240,6 +260570,7 @@ synonym: "Ftld-TDP, Tardbp-related" RELATED [OMIM:612069] synonym: "TARDBP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201, OMIM:612069] xref: DOID:0060201 {source="MONDO:equivalentTo"} +xref: GARD:15540 {source="OMIM:612069"} xref: MESH:C567429 {source="MONDO:equivalentTo"} xref: OMIM:612069 {source="DOID:0060201", source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="OMIM:612069"} @@ -254262,7 +260593,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10497/amyotr id: MONDO:0012791 name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." [Orphanet:1933] -subset: gard_rare +subset: gard_rare {source="GARD:3681"} subset: ordo_disease {source="Orphanet:1933"} synonym: "booth-Haworth-Dilling syndrome" EXACT [Orphanet:1933] synonym: "encephalomyopathy" RELATED [GARD:0003681] @@ -254276,6 +260607,7 @@ synonym: "mitochondrial encephalomyopathy-aminoacidopathy syndrome" EXACT [Orpha synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" EXACT [Orphanet:1933] synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612073] xref: DOID:0080124 {source="MONDO:equivalentTo"} +xref: GARD:3681 {source="Orphanet:1933"} xref: ICD10CM:G71.3 {source="Orphanet:1933/attributed", source="Orphanet:1933/ntbt", source="Orphanet:1933"} xref: MESH:C567624 {source="MONDO:equivalentTo"} xref: OMIM:612073 {source="Orphanet:1933/e", source="MONDO:equivalentTo", source="DOID:0080124", source="Orphanet:1933", source="GARD:0003681"} @@ -254293,6 +260625,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3681/encepha id: MONDO:0012792 name: mitochondrial DNA depletion syndrome 8a def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13200"} subset: ordo_disease {source="Orphanet:255235"} synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075] @@ -254309,6 +260642,7 @@ synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_patter synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200] xref: DOID:0070331 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0080127 {source="MONDO:equivalentTo"} +xref: GARD:13200 {source="Orphanet:255235"} xref: ICD10CM:G31.8 {source="Orphanet:255235/attributed", source="Orphanet:255235/ntbt", source="Orphanet:255235"} xref: OMIM:612075 {source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127", source="Orphanet:255235/e"} xref: Orphanet:254803 {source="OMIM:612075"} @@ -254328,12 +260662,14 @@ property_value: confidence "0.5241579027587255" xsd:double [Term] id: MONDO:0012793 name: hypouricemia, renal, 2 +subset: gard_rare {source="GARD:15541"} synonym: "gout susceptibility 2" RELATED [OMIM:612076] synonym: "hypouricemia, renal, 2" EXACT [MONDO:Lexical, OMIM:612076] synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1, OMIM:612076] synonym: "RHUC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612076] synonym: "uric acid concentration, serum, QTL 2" EXACT [OMIM:612076, OMIM:genemap2] synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [OMIM:612076] +xref: GARD:15541 {source="OMIM:612076"} xref: MESH:C567426 {source="MONDO:equivalentTo"} xref: OMIM:612076 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:612076"} @@ -254351,12 +260687,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012794 name: ANE syndrome def: "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." [Orphanet:157954] +subset: gard_rare {source="GARD:16987"} subset: ordo_disease {source="Orphanet:157954"} synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical, OMIM:612079] synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [Orphanet:157954] synonym: "ANE syndrome" EXACT [OMIM:612079] synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079] xref: DOID:0112244 {source="MONDO:equivalentTo"} +xref: GARD:16987 {source="Orphanet:157954"} xref: MESH:C567425 {source="MONDO:equivalentTo"} xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="Orphanet:157954/e"} xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"} @@ -254385,7 +260723,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012796 name: retinitis pigmentosa 41 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010379"} +subset: gard_rare {source="GARD:10379"} synonym: "PROM1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinal Degeneration, autosomal recessive, prominin-related" RELATED [OMIM:612095] synonym: "retinitis pigmentosa 41" EXACT [MONDO:Lexical, OMIM:612095] @@ -254394,6 +260732,7 @@ synonym: "retinitis pigmentosa type 41" EXACT [DOID:0110376, MONDORULE:2, OMIM:6 synonym: "RP 41" RELATED [GARD:0010379] synonym: "RP41" EXACT ABBREVIATION [DOID:0110376, MONDO:Lexical, OMIM:612095] xref: DOID:0110376 {source="MONDO:equivalentTo"} +xref: GARD:10379 {source="OMIM:612095"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110376"} xref: MESH:C567422 {source="MONDO:equivalentTo"} xref: OMIM:612095 {source="MONDO:equivalentTo", source="DOID:0110376"} @@ -254454,12 +260793,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012800 name: trichoepithelioma, multiple familial, 2 -subset: gard_rare {source="GARD:0010373"} +subset: gard_rare {source="GARD:10373"} synonym: "Mft2" RELATED [OMIM:612099] synonym: "multiple familial trichoepithelioma 2" RELATED [GARD:0010373] synonym: "trichoepithelioma multiple familial 2" RELATED [GARD:0010373] synonym: "trichoepithelioma, multiple familial, 2" EXACT [OMIM:612099] synonym: "trichoepithelioma, multiple familial, type 2" EXACT [MONDORULE:1, OMIM:612099] +xref: GARD:10373 {source="OMIM:612099"} xref: MESH:C567418 {source="MONDO:equivalentTo"} xref: OMIM:612099 {source="MONDO:equivalentTo"} xref: Orphanet:867 {source="OMIM:612099"} @@ -254492,6 +260832,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012802 name: oculoauricular syndrome def: "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." [Orphanet:157962] +subset: gard_rare {source="GARD:16988"} subset: ordo_malformation_syndrome {source="Orphanet:157962"} synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [OMIM:612109] synonym: "OCACS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612109] @@ -254499,6 +260840,7 @@ synonym: "oculoauricular syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM: synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962] synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109] xref: DOID:0060482 {source="MONDO:equivalentTo"} +xref: GARD:16988 {source="Orphanet:157962"} xref: ICD10CM:Q87.8 {source="Orphanet:157962/attributed", source="Orphanet:157962/ntbt", source="Orphanet:157962", source="DOID:0060482"} xref: MESH:C567416 {source="MONDO:equivalentTo", source="DOID:0060482"} xref: OMIM:612109 {source="Orphanet:157962", source="MONDO:equivalentTo", source="Orphanet:157962/e", source="DOID:0060482"} @@ -254512,10 +260854,12 @@ property_value: confidence "2.0000000000000004" xsd:double id: MONDO:0012803 name: diarrhea-vomiting due to trehalase deficiency def: "This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." [Orphanet:103909] +subset: gard_rare {source="GARD:10372"} subset: ordo_disease {source="Orphanet:103909"} synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909] synonym: "trehalase deficiency" RELATED [OMIM:612119] synonym: "trehalose intolerance" RELATED [OMIM:612119] +xref: GARD:10372 {source="Orphanet:103909"} xref: ICD10CM:E74.3 {source="Orphanet:103909", source="Orphanet:103909/attributed", source="Orphanet:103909/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562603 {source="MONDO:equivalentTo"} @@ -254560,6 +260904,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012805 name: childhood onset GLUT1 deficiency syndrome 2 def: "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." [Orphanet:98811] +subset: gard_rare {source="GARD:10541"} subset: ordo_disease {source="Orphanet:98811"} synonym: "childhood onset GLUT1 deficiency syndrome 2" EXACT CLINGEN_PREFERRED [] synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [DOID:0090045, MONDORULE:1] @@ -254581,6 +260926,7 @@ synonym: "ped with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:000 synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090045 {source="MONDO:equivalentTo"} +xref: GARD:10541 {source="Orphanet:98811"} xref: ICD10CM:G24.8 {source="Orphanet:98811/attributed", source="Orphanet:98811/ntbt", source="DOID:0090045", source="Orphanet:98811"} xref: MESH:C564288 {source="MONDO:equivalentTo"} xref: OMIM:612126 {source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo", source="Orphanet:98811/e"} @@ -254597,9 +260943,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012806 name: ectodermal dysplasia and immunodeficiency 2 +subset: gard_rare {source="GARD:15542"} synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [OMIM:612132] synonym: "EPAID2" EXACT ABBREVIATION [OMIM:612132] xref: DOID:0081079 {source="MONDO:equivalentTo"} +xref: GARD:15542 {source="OMIM:612132"} xref: MESH:C567411 {source="MONDO:equivalentTo"} xref: NCIT:C176826 {source="MONDO:equivalentTo"} xref: OMIM:612132 {source="MONDO:equivalentTo"} @@ -254614,12 +260962,14 @@ property_value: confidence "1.013902333975493" xsd:double id: MONDO:0012807 name: epidermolysis bullosa simplex 5C, with pyloric atresia def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." [https://orcid.org/0000-0001-5208-3432, Orphanet:158684] +subset: gard_rare {source="GARD:16991"} subset: ordo_disease {source="Orphanet:158684"} synonym: "EBS with pyloric atresia" RELATED [OMIM:612138] synonym: "EBS-PA" EXACT [Orphanet:158684] synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612138] synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138] +xref: GARD:16991 {source="Orphanet:158684"} xref: ICD10CM:Q81.0 {source="Orphanet:158684", source="Orphanet:158684/attributed", source="Orphanet:158684/ntbt"} xref: MESH:C567408 {source="MONDO:equivalentTo"} xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="Orphanet:158684/e"} @@ -254636,6 +260986,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012808 name: dilated cardiomyopathy 1AA def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15543"} synonym: "ACTN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:612158] synonym: "cardiomyopathy, dilated, 1AA, with or without LVNC" EXACT [OMIM:612158, OMIM:genemap2] @@ -254646,6 +260997,7 @@ synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompact synonym: "dilated cardiomyopathy type 1AA" EXACT [DOID:0110428, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" EXACT [MONDO:design_pattern] xref: DOID:0110428 {source="MONDO:equivalentTo"} +xref: GARD:15543 {source="OMIM:612158"} xref: ICD10CM:I42.0 {source="DOID:0110428"} xref: MESH:C567407 {source="MONDO:equivalentTo"} xref: OMIM:612158 {source="DOID:0110428", source="MONDO:equivalentTo"} @@ -254664,11 +261016,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012809 name: histiocytoma, Angiomatoid fibrous def: "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." [NCIT:P378] +subset: gard_rare {source="GARD:22303"} synonym: "AFH" EXACT ABBREVIATION [NCIT:C6494] synonym: "angiomatoid fibrous histiocytoma" EXACT [NCIT:C6494] synonym: "angiomatoid malignant fibrous histiocytoma" EXACT [NCIT:C6494] synonym: "histiocytoma, Angiomatoid fibrous" EXACT [OMIM:612160] synonym: "histiocytoma, angiomatoid fibrous, somatic" EXACT [OMIM:612160, OMIM:genemap2] +xref: GARD:22303 {source="Orphanet:569164"} xref: ICDO:8836/1 {source="NCIT:C6494"} xref: MESH:C563181 {source="MONDO:equivalentTo"} xref: NCIT:C6494 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -254685,9 +261039,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012810 name: aneurysm, intracranial berry, 7 +subset: gard_rare {source="GARD:18325"} synonym: "aneurysm, intracranial BERRY, 7" RELATED [MONDO:Lexical, OMIM:612161] synonym: "ANIB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612161] xref: DOID:0080970 {source="MONDO:equivalentTo"} +xref: GARD:18325 {source="OMIM:612161"} xref: MESH:C567406 {source="MONDO:equivalentTo"} xref: OMIM:612161 {source="MONDO:equivalentTo"} xref: UMLS:C2677337 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612161"} @@ -254697,9 +261053,11 @@ property_value: confidence "2.900441907477719" xsd:double [Term] id: MONDO:0012811 name: aneurysm, intracranial berry, 8 +subset: gard_rare {source="GARD:18326"} synonym: "aneurysm, intracranial BERRY, 8" RELATED [MONDO:Lexical, OMIM:612162] synonym: "ANIB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612162] xref: DOID:0080971 {source="MONDO:equivalentTo"} +xref: GARD:18326 {source="OMIM:612162"} xref: MESH:C567405 {source="MONDO:equivalentTo"} xref: OMIM:612162 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:612162"} @@ -254711,7 +261069,7 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0012812 name: developmental and epileptic encephalopathy, 4 def: "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." [https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4] -subset: gard_rare {source="GARD:0012900"} +subset: gard_rare {source="GARD:12900", source="GARD:22404"} subset: ordo_disease synonym: "DEE4" EXACT ABBREVIATION [OMIM:612164] synonym: "developmental and epileptic encephalopathy 4" EXACT [OMIM:612164, OMIM:genemap2] @@ -254725,6 +261083,8 @@ synonym: "STXBP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_p synonym: "STXBP1-related early-onset encephalopathy" RELATED [GARD:0012900] synonym: "STXBP1-related encephalopathy" EXACT [Orphanet:599373] xref: DOID:0080436 {source="MONDO:equivalentTo"} +xref: GARD:12900 {source="OMIM:612164"} +xref: GARD:22404 {source="Orphanet:599373"} xref: MESH:C567404 {source="MONDO:equivalentTo"} xref: NCIT:C162472 {source="MONDO:equivalentTo"} xref: OMIM:612164 {source="MONDO:equivalentTo"} @@ -254745,12 +261105,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12900/early- id: MONDO:0012813 name: retinitis pigmentosa 29 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." [DOID:0110378, PMID:11381043] -subset: gard_rare {source="GARD:0010378"} +subset: gard_rare {source="GARD:10378"} synonym: "retinitis pigmentosa 29" EXACT [MONDO:Lexical, OMIM:612165] synonym: "retinitis pigmentosa type 29" EXACT [DOID:0110378, MONDORULE:2] synonym: "RP 29" RELATED [GARD:0010378] synonym: "RP29" EXACT ABBREVIATION [DOID:0110378, MONDO:Lexical, OMIM:612165] xref: DOID:0110378 {source="MONDO:equivalentTo"} +xref: GARD:10378 {source="OMIM:612165"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110378"} xref: MESH:C567403 {source="MONDO:equivalentTo"} xref: OMIM:612165 {source="MONDO:equivalentTo", source="DOID:0110378"} @@ -254772,10 +261133,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012815 name: Coats plus syndrome def: "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." [Orphanet:313838] +subset: gard_rare {source="GARD:17412"} subset: ordo_disease {source="Orphanet:313838"} synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199] synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838] synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612199, Orphanet:313838] +xref: GARD:17412 {source="Orphanet:313838"} xref: ICD10CM:H35.0 {source="Orphanet:313838/attributed", source="Orphanet:313838/ntbt", source="Orphanet:313838"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567401 {source="MONDO:equivalentTo"} @@ -254792,11 +261155,13 @@ property_value: confidence "0.1428571428571428" xsd:double id: MONDO:0012816 name: atrial fibrillation, familial, 6 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15544"} synonym: "ATFB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612201] synonym: "atrial fibrillation, familial, 6" EXACT [MONDO:Lexical, OMIM:612201] synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1, OMIM:612201] synonym: "familial atrial fibrillation caused by mutation in NPPA" EXACT [MONDO:design_pattern] synonym: "NPPA familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15544 {source="OMIM:612201"} xref: MESH:C567400 {source="MONDO:equivalentTo"} xref: OMIM:612201 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:612201"} @@ -254810,6 +261175,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012817 name: Ewing sarcoma def: "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C4817] +subset: gard_rare {source="GARD:6390"} subset: ordo_disease {source="Orphanet:319"} synonym: "ES" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219] @@ -254844,6 +261210,7 @@ synonym: "sarcoma, Ewing's" RELATED [GARD:0006390] xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo"} xref: DOID:3369 {source="MONDO:equivalentTo"} xref: EFO:0000174 {source="MONDO:equivalentTo"} +xref: GARD:6390 {source="Orphanet:319"} xref: ICD10CM:C40.0 {source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C40.1 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C40.2 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} @@ -254889,7 +261256,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012818 name: maturity-onset diabetes of the young type 9 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010663"} +subset: gard_rare {source="GARD:10663"} synonym: "diabetes mellitus MODY type 9" RELATED [GARD:0010663] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PAX4" EXACT [] synonym: "maturity-onset diabetes of the young, type 9" RELATED [MONDO:Lexical, OMIM:612225] @@ -254900,6 +261267,7 @@ synonym: "MODY9" EXACT ABBREVIATION [DOID:0111107, MONDO:Lexical, OMIM:612225] synonym: "PAX4 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "type 9 maturity-onset diabetes of the young" RELATED [GARD:0010663] xref: DOID:0111107 {source="MONDO:equivalentTo"} +xref: GARD:10663 {source="OMIM:612225"} xref: MESH:C567393 {source="MONDO:equivalentTo"} xref: OMIM:612225 {source="DOID:0111107", source="MONDO:equivalentTo"} xref: Orphanet:552 {source="GARD:0010663"} @@ -255007,6 +261375,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012824 name: hypomyelinating leukodystrophy 4 def: "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17294"} subset: ordo_clinical_subtype {source="Orphanet:280288"} synonym: "HLD4" EXACT ABBREVIATION [DOID:0060789, MONDO:Lexical, OMIM:612233] synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -255020,6 +261389,7 @@ synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:2802 synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789] xref: DOID:0060789 {source="MONDO:equivalentTo"} +xref: GARD:17294 {source="Orphanet:280288"} xref: ICD10CM:E75.2 {source="DOID:0060789", source="Orphanet:280288/attributed", source="Orphanet:280288/ntbt", source="Orphanet:280288"} xref: MESH:C567390 {source="MONDO:equivalentTo"} xref: OMIM:612233 {source="Orphanet:280288/e", source="MONDO:equivalentTo", source="DOID:0060789", source="Orphanet:280288"} @@ -255037,6 +261407,7 @@ property_value: confidence "4.714285714285717" xsd:double id: MONDO:0012825 name: extraskeletal myxoid chondrosarcoma def: "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." [NCIT:P378] +subset: gard_rare {source="GARD:17105"} subset: ordo_disease {source="Orphanet:209916"} synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [OMIM:612237] synonym: "EMC" RELATED ABBREVIATION [OMIM:612237] @@ -255045,6 +261416,7 @@ synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502] synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502] synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502] xref: DOID:6496 {source="MONDO:equivalentObsolete"} +xref: GARD:17105 {source="Orphanet:209916"} xref: ICD10CM:C49.9 {source="Orphanet:209916/ntbt", source="Orphanet:209916"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563195 {source="MONDO:equivalentTo", source="DOID:6496"} @@ -255087,11 +261459,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012828 name: atrial fibrillation, familial, 7 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15545"} synonym: "ATFB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612240] synonym: "atrial fibrillation, familial, 7" EXACT [MONDO:Lexical, OMIM:612240] synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1, OMIM:612240] synonym: "familial atrial fibrillation caused by mutation in KCNA5" EXACT [MONDO:design_pattern] synonym: "KCNA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15545 {source="OMIM:612240"} xref: MESH:C567389 {source="MONDO:equivalentTo"} xref: OMIM:612240 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:612240"} @@ -255120,7 +261494,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:612241", source="DOID:0110887", source="MES id: MONDO:0012830 name: chromosome 10q23 deletion syndrome def: "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." [Orphanet:276413] -subset: gard_rare +subset: gard_rare {source="GARD:17280"} subset: ordo_malformation_syndrome {source="Orphanet:276413"} synonym: "10q22.3q23 microdeletion syndrome" RELATED [GARD:0013018] synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [Orphanet:276413] @@ -255133,6 +261507,7 @@ synonym: "juvenile polyposis of infancy" RELATED [OMIM:612242] synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242] synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413] xref: DOID:0060389 {source="MONDO:equivalentTo"} +xref: GARD:17280 {source="Orphanet:276413"} xref: ICD10CM:Q93.5 {source="Orphanet:276413", source="Orphanet:276413/attributed", source="Orphanet:276413/ntbt"} xref: MESH:C567385 {source="DOID:0060389", source="MONDO:equivalentTo"} xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="Orphanet:276413/e"} @@ -255195,6 +261570,7 @@ property_value: confidence "3.999999999999999" xsd:double id: MONDO:0012833 name: Crouzon syndrome-acanthosis nigricans syndrome def: "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." [Orphanet:93262] +subset: gard_rare {source="GARD:16810"} subset: ordo_malformation_syndrome {source="Orphanet:93262"} synonym: "CAN" EXACT ABBREVIATION [DOID:0111161, MONDO:Lexical, OMIM:612247] synonym: "can" RELATED [OMIM:612247] @@ -255204,6 +261580,7 @@ synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OM synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262] synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247] xref: DOID:0111161 {source="MONDO:equivalentTo"} +xref: GARD:16810 {source="Orphanet:93262"} xref: ICD10CM:Q75.1 {source="Orphanet:93262", source="Orphanet:93262/attributed", source="Orphanet:93262/ntbt"} xref: MESH:C567382 {source="MONDO:equivalentTo"} xref: NCIT:C38145 {source="MONDO:equivalentTo"} @@ -255309,12 +261686,14 @@ is_a: MONDO:0005265 {source="DC-OMIM:612259", source="DOID:0110896", source="MES id: MONDO:0012839 name: pyogenic bacterial infections due to MyD88 deficiency def: "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." [Orphanet:183713] +subset: gard_rare {source="GARD:12638"} subset: ordo_disease {source="Orphanet:183713"} synonym: "immunodeficiency 68" EXACT [OMIM:612260, OMIM:genemap2] synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260, Orphanet:183713] synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612260] synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260] synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260] +xref: GARD:12638 {source="Orphanet:183713"} xref: ICD10CM:D84.8 {source="Orphanet:183713/attributed", source="Orphanet:183713/ntbt", source="Orphanet:183713"} xref: MESH:C567379 {source="MONDO:equivalentTo"} xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", source="Orphanet:183713"} @@ -255385,6 +261764,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012843 name: epilepsy, childhood absence, susceptibility to, 5 def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18061"} subset: predisposition synonym: "childhood absence epilepsy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] synonym: "ECA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612269] @@ -255392,6 +261772,7 @@ synonym: "epilepsy, childhood absence, susceptibility to, 5" EXACT [MONDO:Lexica synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612269] synonym: "GABRB3 childhood absence epilepsy" RELATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to childhood absence epilepsy 5" EXACT [OMIM:612269] +xref: GARD:18061 {source="OMIM:612269"} xref: OMIM:612269 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:612269"} xref: UMLS:C2677087 {source="OMIM:612269", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -255405,12 +261786,14 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0012844 name: primary ciliary dyskinesia 8 def: "A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25." [DOID:0110616, PMID:18270537] +subset: gard_rare {source="GARD:15546"} synonym: "CILD8" EXACT ABBREVIATION [DOID:0110616, MONDO:Lexical, OMIM:612274] synonym: "ciliary dyskinesia, primary, 8" RELATED [MONDO:Lexical, OMIM:612274] synonym: "ciliary dyskinesia, primary, 8, with or without situs inversus" RELATED [OMIM:612274] synonym: "primary ciliary dyskinesia 8 with or without situs inversus" EXACT [DOID:0110616] synonym: "primary ciliary dyskinesia type 8" EXACT [DOID:0110616, MONDORULE:1] xref: DOID:0110616 {source="MONDO:equivalentTo"} +xref: GARD:15546 {source="OMIM:612274"} xref: ICD10CM:Q34.8 {source="DOID:0110616"} xref: MESH:C567373 {source="MONDO:equivalentTo"} xref: OMIM:612274 {source="MONDO:equivalentTo", source="DOID:0110616"} @@ -255443,10 +261826,12 @@ property_value: confidence "3.999999999999999" xsd:double [Term] id: MONDO:0012846 name: generalized epilepsy with febrile seizures plus, type 6 +subset: gard_rare {source="GARD:18663"} synonym: "Gefs+, type 6" RELATED [OMIM:612279] synonym: "GEFSP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612279] synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT [MONDO:Lexical, OMIM:612279] xref: DOID:0111300 {source="MONDO:equivalentTo"} +xref: GARD:18663 {source="OMIM:612279"} xref: MESH:C567371 {source="MONDO:equivalentTo"} xref: OMIM:612279 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:612279"} @@ -255458,12 +261843,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012847 name: autosomal recessive congenital ichthyosis 6 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15547"} synonym: "ARCI6" EXACT ABBREVIATION [DOID:0060715, MONDO:Lexical, OMIM:612281] synonym: "autosomal recessive congenital ichthyosis type 6" EXACT [DOID:0060715, MONDORULE:1] synonym: "ichthyosis, congenital, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:612281] synonym: "ichthyosis, congenital, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:612281] synonym: "ichthyosis, congenital, autosomal recessive, Nipal4-related" RELATED [OMIM:612281] xref: DOID:0060715 {source="MONDO:equivalentTo"} +xref: GARD:15547 {source="OMIM:612281"} xref: ICD10CM:Q80.2 {source="DOID:0060715"} xref: OMIM:612281 {source="MONDO:equivalentTo", source="DOID:0060715"} xref: Orphanet:313 {source="OMIM:612281"} @@ -255484,6 +261871,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012848 name: Meckel syndrome, type 6 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15548"} synonym: "CC2D2A Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Meckel syndrome 6" RELATED [DOID:0070120] synonym: "Meckel syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] @@ -255491,6 +261879,7 @@ synonym: "Meckel syndrome, type 6" EXACT [MONDO:Lexical, OMIM:612284] synonym: "Meckel-Gruber syndrome, type 6" EXACT [DOID:0070120] synonym: "MKS6" EXACT ABBREVIATION [DOID:0070120, MONDO:Lexical, OMIM:612284] xref: DOID:0070120 {source="MONDO:equivalentTo"} +xref: GARD:15548 {source="OMIM:612284"} xref: ICD10CM:Q61.9 {source="DOID:0070120"} xref: MESH:C567365 {source="MONDO:equivalentTo"} xref: OMIM:612284 {source="DOID:0070120", source="MONDO:equivalentTo"} @@ -255508,6 +261897,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012849 name: Joubert syndrome 9 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15549"} synonym: "CC2D2A Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS9" EXACT ABBREVIATION [DOID:0111004, MONDO:Lexical, OMIM:612285] synonym: "Joubert syndrome 9" EXACT [MONDO:Lexical, OMIM:612285] @@ -255515,6 +261905,7 @@ synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:612285] synonym: "Joubert syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 9" EXACT [DOID:0111004, MONDORULE:1, OMIM:612285] xref: DOID:0111004 {source="MONDO:equivalentTo"} +xref: GARD:15549 {source="OMIM:612285"} xref: MESH:C567364 {source="MONDO:equivalentTo"} xref: NCIT:C181002 {source="MONDO:equivalentTo"} xref: OMIM:612285 {source="MONDO:equivalentTo", source="DOID:0111004"} @@ -255530,11 +261921,13 @@ property_value: confidence "0.7367352941176466" xsd:double [Term] id: MONDO:0012850 name: hypophosphatemic nephrolithiasis/osteoporosis 1 +subset: gard_rare {source="GARD:18346"} synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 1" EXACT [DOID:0080077, MONDORULE:1] synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1" RELATED [MONDO:Lexical, OMIM:612286] synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" EXACT [MONDORULE:1, OMIM:612286] synonym: "NPHLOP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612286] xref: DOID:0080077 {source="MONDO:equivalentTo"} +xref: GARD:18346 {source="OMIM:612286"} xref: MESH:C567363 {source="MONDO:equivalentTo"} xref: OMIM:612286 {source="DOID:0080077", source="MONDO:equivalentTo"} xref: Orphanet:244305 {source="OMIM:612286"} @@ -255551,11 +261944,13 @@ property_value: confidence "29.333333333333442" xsd:double [Term] id: MONDO:0012851 name: hypophosphatemic nephrolithiasis/osteoporosis 2 +subset: gard_rare {source="GARD:18347"} synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 2" EXACT [DOID:0080078, MONDORULE:1] synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2" RELATED [MONDO:Lexical, OMIM:612287] synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" EXACT [MONDORULE:1, OMIM:612287] synonym: "NPHLOP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612287] xref: DOID:0080078 {source="MONDO:equivalentTo"} +xref: GARD:18347 {source="OMIM:612287"} xref: MESH:C567362 {source="MONDO:equivalentTo"} xref: OMIM:612287 {source="DOID:0080078", source="MONDO:equivalentTo"} xref: Orphanet:244305 {source="OMIM:612287"} @@ -255588,7 +261983,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:612288", source="DOID:0110898", source="MES id: MONDO:0012853 name: Fontaine progeroid syndrome def: "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." [Orphanet:2963] -subset: gard_rare {source="GARD:0000066"} +subset: gard_rare {source="GARD:4497", source="GARD:66"} subset: ordo_disorder subset: ordo_malformation_syndrome {source="Orphanet:2963", source="Orphanet:2095"} synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" EXACT [OMIM:233500] @@ -255611,6 +262006,8 @@ synonym: "progeroid syndrome congenital Petty type" EXACT [GARD:0004497] synonym: "progeroid syndrome Petty type" EXACT [GARD:0004497] synonym: "progeroid syndrome, congenital, Petty type" NARROW [OMIM:612289] synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497] +xref: GARD:4497 {source="Orphanet:2963"} +xref: GARD:66 {source="Orphanet:2095"} xref: ICD10CM:E34.8 {source="Orphanet:2963", source="MONDO:mondoSubClassOfSource", source="Orphanet:2963/attributed", source="Orphanet:2963/ntbt"} xref: ICD10CM:Q87.0 {source="Orphanet:2095/ntbt", source="Orphanet:2095", source="Orphanet:2095/index"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -255634,11 +262031,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4497/progero id: MONDO:0012854 name: bilateral microtia-deafness-cleft palate syndrome def: "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." [Orphanet:140963] +subset: gard_rare {source="GARD:16966"} subset: ordo_malformation_syndrome {source="Orphanet:140963"} synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290] synonym: "microtia with or without hearing impairment (AD)" EXACT [OMIM:612290, OMIM:genemap2] synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290] synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [OMIM:612290, OMIM:genemap2] +xref: GARD:16966 {source="Orphanet:140963"} xref: ICD10CM:Q87.0 {source="Orphanet:140963", source="Orphanet:140963/attributed", source="Orphanet:140963/ntbt"} xref: MESH:C567359 {source="MONDO:equivalentTo"} xref: OMIM:612290 {source="Orphanet:140963/e", source="MONDO:equivalentTo", source="Orphanet:140963"} @@ -255654,12 +262053,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012855 name: Joubert syndrome 8 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15550"} synonym: "ARL13B Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS8" EXACT ABBREVIATION [DOID:0111003, MONDO:Lexical, OMIM:612291] synonym: "Joubert syndrome 8" EXACT [MONDO:Lexical, OMIM:612291] synonym: "Joubert syndrome caused by mutation in ARL13B" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 8" EXACT [DOID:0111003, MONDORULE:1, OMIM:612291] xref: DOID:0111003 {source="MONDO:equivalentTo"} +xref: GARD:15550 {source="OMIM:612291"} xref: MESH:C567358 {source="MONDO:equivalentTo"} xref: OMIM:612291 {source="MONDO:equivalentTo", source="DOID:0111003"} xref: Orphanet:475 {source="OMIM:612291"} @@ -255673,7 +262074,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012856 name: Birk-Barel syndrome def: "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." [https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome] -subset: gard_rare {source="GARD:0010358"} +subset: gard_rare {source="GARD:10358"} subset: ordo_disease {source="Orphanet:166108"} synonym: "Birk Barel intellectual disability dysmorphism syndrome" RELATED [GARD:0010358] synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED DEPRECATED [GARD:0010358] @@ -255685,6 +262086,7 @@ synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108] synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108] synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [OMIM:612292] xref: DOID:0050675 {source="MONDO:equivalentTo"} +xref: GARD:10358 {source="Orphanet:166108"} xref: ICD10CM:Q87.8 {source="Orphanet:166108/attributed", source="Orphanet:166108/ntbt", source="Orphanet:166108"} xref: MESH:C567357 {source="MONDO:equivalentTo"} xref: OMIM:612292 {source="Orphanet:166108/e", source="DOID:0050675", source="MONDO:equivalentTo", source="Orphanet:166108"} @@ -255703,10 +262105,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10358/birk-b [Term] id: MONDO:0012857 name: porokeratosis 5, disseminated superficial actinic type +subset: gard_rare {source="GARD:15551"} synonym: "POROK5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612293] synonym: "porokeratosis 5, disseminated superficial actinic" EXACT [OMIM:612293, OMIM:genemap2] synonym: "porokeratosis 5, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612293] synonym: "porokeratosis, disseminated superficial actinic, 3" RELATED [OMIM:612293] +xref: GARD:15551 {source="OMIM:612293"} xref: MESH:C567356 {source="MONDO:equivalentTo"} xref: OMIM:612293 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:612293"} @@ -255719,11 +262123,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012858 name: primary CD59 deficiency +subset: gard_rare {source="GARD:17054"} subset: ordo_disease {source="Orphanet:169464"} synonym: "CD59 deficiency" RELATED [OMIM:612300] synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612300] synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300] synonym: "primary CD59 deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:17054 {source="Orphanet:169464"} xref: ICD10CM:D84.1 {source="Orphanet:169464", source="Orphanet:169464/attributed", source="Orphanet:169464/ntbt"} xref: MESH:C567355 {source="MONDO:equivalentTo"} xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="Orphanet:169464/e"} @@ -255740,7 +262146,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012859 name: autosomal recessive osteopetrosis 7 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010106"} +subset: gard_rare {source="GARD:10106"} subset: ordo_disease {source="Orphanet:178389"} synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946, Orphanet:178389] synonym: "autosomal recessive osteopetrosis type 7" EXACT [DOID:0110946, MONDORULE:1, Orphanet:178389] @@ -255755,6 +262161,7 @@ synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [O synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946] synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110946 {source="MONDO:equivalentTo"} +xref: GARD:10106 {source="Orphanet:178389"} xref: ICD10CM:Q78.2 {source="Orphanet:178389/attributed", source="Orphanet:178389/ntbt", source="Orphanet:178389", source="DOID:0110946"} xref: MESH:C567354 {source="MONDO:equivalentTo"} xref: OMIM:612301 {source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946", source="Orphanet:178389/e"} @@ -255774,7 +262181,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10106/osteop [Term] id: MONDO:0012860 name: thrombophilia due to protein C deficiency, autosomal recessive -subset: gard_rare +subset: gard_rare {source="GARD:13041"} synonym: "autosomal recessive hereditary thrombophilia due to protein C deficiency" RELATED [GARD:0013041] synonym: "autosomal recessive protein C deficiency" RELATED [GARD:0013041] synonym: "hereditary thrombophilia due to congenital protein C deficiency" RELATED [GARD:0013041] @@ -255786,6 +262193,7 @@ synonym: "thrombophilia 3 due to protein C deficiency, autosomal recessive" EXAC synonym: "thrombophilia due to PROTEIN C deficiency, autosomal recessive" RELATED [OMIM:612304] synonym: "thrombophilia due to protein C deficiency, autosomal recessive" EXACT CLINGEN_PREFERRED [GARD:0013041, MONDO:Lexical, OMIM:612304] xref: DOID:0111904 {source="MONDO:equivalentTo"} +xref: GARD:13041 {source="OMIM:612304"} xref: MESH:C567353 {source="MONDO:equivalentTo"} xref: OMIM:612304 {source="MONDO:equivalentTo", source="GARD:0013041"} xref: Orphanet:745 {source="OMIM:612304", source="GARD:0013041"} @@ -255853,7 +262261,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012864 name: chromosome 2q32-q33 deletion syndrome def: "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." [Orphanet:251019] -subset: gard_rare +subset: gard_rare {source="GARD:13206", source="GARD:18013"} subset: ordo_malformation_syndrome {source="Orphanet:251019"} synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019] synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428] @@ -255870,6 +262278,8 @@ synonym: "SAS" RELATED ABBREVIATION [GARD:0013206] synonym: "SATB2 syndrome" RELATED [GARD:0013206] synonym: "SATB2-associated syndrome" RELATED [GARD:0013206] xref: DOID:0060428 {source="MONDO:equivalentTo"} +xref: GARD:13206 {source="Orphanet:251019"} +xref: GARD:18013 {source="Orphanet:576283"} xref: ICD10CM:Q93.5 {source="Orphanet:251019/attributed", source="Orphanet:251019/ntbt", source="DOID:0060428", source="Orphanet:251019"} xref: MESH:C567350 {source="MONDO:equivalentTo"} xref: OMIM:612313 {source="Orphanet:251019/e", source="MONDO:equivalentTo", source="DOID:0060428", source="Orphanet:251019"} @@ -255908,6 +262318,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012866 name: hereditary spastic paraplegia 35 def: "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." [Orphanet:171629] +subset: gard_rare {source="GARD:10538"} subset: ordo_disease {source="Orphanet:171629"} synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786] @@ -255922,6 +262333,7 @@ synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or withou synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319] synonym: "SPG35" EXACT ABBREVIATION [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629] xref: DOID:0110786 {source="MONDO:equivalentTo"} +xref: GARD:10538 {source="Orphanet:171629"} xref: ICD10CM:G11.4 {source="Orphanet:171629/attributed", source="Orphanet:171629/ntbt", source="DOID:0110786", source="Orphanet:171629"} xref: MESH:C567311 {source="MONDO:equivalentTo"} xref: OMIM:612319 {source="DOID:0110786", source="Orphanet:171629", source="MONDO:equivalentTo", source="Orphanet:171629/e"} @@ -255940,6 +262352,7 @@ property_value: confidence "15.666666666666679" xsd:double id: MONDO:0012867 name: hereditary spastic paraplegia 38 def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." [DOID:0110789, PMID:18401025] +subset: gard_rare {source="GARD:17065"} subset: ordo_disease {source="Orphanet:171617"} synonym: "autosomal dominant spastic paraplegia 38" EXACT [DOID:0110789] synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789] @@ -255947,6 +262360,7 @@ synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE: synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335] synonym: "SPG38" EXACT ABBREVIATION [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617] xref: DOID:0110789 {source="MONDO:equivalentTo"} +xref: GARD:17065 {source="Orphanet:171617"} xref: ICD10CM:G11.4 {source="DOID:0110789", source="Orphanet:171617", source="Orphanet:171617/attributed", source="Orphanet:171617/ntbt"} xref: MESH:C567349 {source="MONDO:equivalentTo"} xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="MONDO:equivalentTo", source="Orphanet:171617/e"} @@ -255961,6 +262375,7 @@ id: MONDO:0012868 name: thrombophilia due to protein S deficiency, autosomal dominant def: "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." [MONDO:design_pattern] comment: Note that ORDO appears to classify as hereditary and acquired. +subset: gard_rare {source="GARD:18568", source="GARD:18799"} subset: ordo_disease {source="Orphanet:26349"} synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern] synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] @@ -255969,6 +262384,8 @@ synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612336] synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [OMIM:612336, OMIM:genemap2] synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336] xref: DOID:0111900 {source="MONDO:equivalentTo"} +xref: GARD:18568 {source="OMIM:612336"} +xref: GARD:18799 {source="Orphanet:26349"} xref: ICD10CM:D68.8 {source="Orphanet:26349", source="Orphanet:26349/ntbt"} xref: MedDRA:10068370 {source="Orphanet:26349", source="Orphanet:26349/e"} xref: MESH:C567077 {source="MONDO:equivalentTo"} @@ -256033,12 +262450,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012871 name: Jervell and Lange-Nielsen syndrome 2 def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010364"} +subset: gard_rare {source="GARD:10364"} synonym: "Jervell and Lange-Nielsen syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612347] synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1, OMIM:612347] synonym: "JLNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612347] synonym: "KCNE1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:10364 {source="OMIM:612347"} xref: MESH:C567343 {source="MONDO:equivalentTo"} xref: OMIM:612347 {source="MONDO:equivalentTo"} xref: Orphanet:768 {source="OMIM:612347"} @@ -256073,6 +262491,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012873 name: Ehlers-Danlos syndrome, spondylocheirodysplastic type def: "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." [Orphanet:157965] +subset: gard_rare {source="GARD:12610"} subset: ordo_disease {source="Orphanet:157965"} synonym: "EDS, spondylocheirodysplastic type" EXACT [Orphanet:157965] synonym: "EDSSPD3" RELATED ABBREVIATION [OMIM:612350] @@ -256080,6 +262499,7 @@ synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:6123 synonym: "SCD-EDS" RELATED [OMIM:612350] synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350] xref: DOID:0080739 {source="MONDO:equivalentTo"} +xref: GARD:12610 {source="Orphanet:157965"} xref: ICD10CM:Q79.6 {source="Orphanet:157965", source="Orphanet:157965/attributed", source="Orphanet:157965/ntbt"} xref: MESH:C567340 {source="MONDO:equivalentTo"} xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="Orphanet:157965/e"} @@ -256095,11 +262515,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012874 name: porokeratosis 6, disseminated superficial actinic type +subset: gard_rare {source="GARD:15552"} synonym: "POROK6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612353] synonym: "porokeratosis 6, disseminated superficial" RELATED [OMIM:612353] synonym: "porokeratosis 6, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612353] synonym: "porokeratosis 6, multiple types" RELATED [OMIM:612353] synonym: "porokeratosis, disseminated superficial actinic, 4" RELATED [OMIM:612353] +xref: GARD:15552 {source="OMIM:612353"} xref: MESH:C567339 {source="MONDO:equivalentTo"} xref: OMIM:612353 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:612353"} @@ -256201,7 +262623,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012880 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:10773"} synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370] @@ -256209,6 +262631,7 @@ synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO synonym: "KAL5" NARROW ABBREVIATION [GARD:0010773] synonym: "Kallmann syndrome 5" RELATED [GARD:0010773] xref: DOID:0090084 {source="MONDO:equivalentTo"} +xref: GARD:10773 {source="OMIM:612370"} xref: ICD10CM:E23.0 {source="DOID:0090084", source="MONDO:relatedTo"} xref: MESH:C567220 {source="MONDO:equivalentTo"} xref: OMIM:612370 {source="DOID:0090084", source="GARD:0010773", source="MONDO:equivalentTo"} @@ -256259,6 +262682,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012883 name: acute promyelocytic leukemia def: "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520] +subset: gard_rare {source="GARD:538"} subset: ordo_disease {source="Orphanet:520"} synonym: "acute myeloblastic leukaemia 3" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 [] @@ -256290,6 +262714,7 @@ synonym: "promyelocytic leukemia" EXACT [NCIT:C3182] xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081081 {source="MONDO:equivalentTo"} xref: EFO:0000224 {source="MONDO:equivalentTo"} +xref: GARD:538 {source="Orphanet:520"} xref: ICD10CM:C92.4 {source="Orphanet:520/e", source="DOID:0060318", source="Orphanet:520"} xref: ICD10CM:C92.40 {source="DOID:0060318"} xref: ICDO:9866/3 {source="NCIT:C3182"} @@ -256324,6 +262749,7 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0012885 name: SRD5A3-congenital disorder of glycosylation def: "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." [Orphanet:324737] +subset: gard_rare {source="GARD:12397"} subset: ordo_disease {source="Orphanet:324737"} synonym: "CDG Iq" RELATED [OMIM:612379] synonym: "CDG syndrome type Iq" EXACT [Orphanet:324737] @@ -256339,6 +262765,7 @@ synonym: "SRD5A3-CDG" EXACT ABBREVIATION [Orphanet:324737] synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397] synonym: "SRD5A3-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080568 {source="MONDO:equivalentTo"} +xref: GARD:12397 {source="Orphanet:324737"} xref: ICD10CM:E77.8 {source="Orphanet:324737", source="Orphanet:324737/attributed", source="Orphanet:324737/ntbt"} xref: OMIM:612379 {source="MONDO:equivalentTo", source="Orphanet:324737", source="Orphanet:324737/e"} xref: Orphanet:139477 {source="OMIM:612379"} @@ -256392,6 +262819,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:612381", source="DOID:0110884", source="MES id: MONDO:0012888 name: sarcoidosis, susceptibility to, 2 def: "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18595"} subset: predisposition synonym: "BTNL2 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sarcoidosis caused by mutation in BTNL2" EXACT [MONDO:design_pattern] @@ -256399,6 +262827,7 @@ synonym: "sarcoidosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612387] synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612387] synonym: "SS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612387] synonym: "susceptibility to sarcoidosis 2" RELATED [OMIM:612387] +xref: GARD:18595 {source="OMIM:612387"} xref: OMIM:612387 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:612387"} xref: UMLS:C2676468 {source="OMIM:612387", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -256411,9 +262840,11 @@ property_value: confidence "5.4787819889860705" xsd:double [Term] id: MONDO:0012889 name: sarcoidosis, susceptibility to, 3 +subset: gard_rare {source="GARD:18596"} subset: predisposition synonym: "sarcoidosis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612388] synonym: "SS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612388] +xref: GARD:18596 {source="OMIM:612388"} xref: OMIM:612388 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:612388"} xref: UMLS:C2676467 {source="OMIM:612388", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -256426,12 +262857,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012890 name: pontocerebellar hypoplasia type 2B def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15553"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2" EXACT [MONDO:design_pattern] synonym: "PCH2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612389] synonym: "pontocerebellar hypoplasia type 2B" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical, OMIM:612389] synonym: "TSEN2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060268 {source="MONDO:equivalentTo"} +xref: GARD:15553 {source="OMIM:612389"} xref: MESH:C567325 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="DOID:0060268", source="OMIM:612389"} @@ -256447,11 +262880,13 @@ property_value: confidence "40.66666666666664" xsd:double id: MONDO:0012891 name: pontocerebellar hypoplasia type 2C def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15554"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34" EXACT [MONDO:design_pattern] synonym: "PCH2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612390] synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical, OMIM:612390] synonym: "TSEN34 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060269 {source="MONDO:equivalentTo"} +xref: GARD:15554 {source="OMIM:612390"} xref: MESH:C567324 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: OMIM:612390 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: Orphanet:2524 {source="DOID:0060269", source="OMIM:612390"} @@ -256467,6 +262902,7 @@ property_value: confidence "40.66666666666664" xsd:double id: MONDO:0012892 name: bone fragility with contractures, arterial rupture, and deafness def: "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." [Orphanet:300284] +subset: gard_rare {source="GARD:17362"} subset: ordo_disease {source="Orphanet:300284"} synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [OMIM:612394] synonym: "bone fragility-contractures-arterial rupture-deafness syndrome" EXACT [Orphanet:300284] @@ -256474,6 +262910,7 @@ synonym: "connective tissue disorder due to LH3 deficiency" EXACT [Orphanet:3002 synonym: "connective tissue disorder due to lysyl hydroxylase-3 deficiency" EXACT CLINGEN_PREFERRED [Orphanet:300284] synonym: "LH3 deficiency" RELATED [OMIM:612394] synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394] +xref: GARD:17362 {source="Orphanet:300284"} xref: MESH:C567320 {source="MONDO:equivalentTo"} xref: OMIM:612394 {source="Orphanet:300284/e", source="MONDO:equivalentTo", source="Orphanet:300284"} xref: Orphanet:300284 {source="MONDO:equivalentTo", source="OMIM:612394"} @@ -256524,6 +262961,7 @@ relationship: predisposes_towards MONDO:0005178 {source="OMIM:612401"} ! osteoar id: MONDO:0012895 name: torsion dystonia 17 def: "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." [DOID:0090042] +subset: gard_rare {source="GARD:10536"} subset: ordo_disease {source="Orphanet:370103"} synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612406] synonym: "dystonia-17, primary torsion" EXACT [OMIM:612406, OMIM:genemap2] @@ -256531,6 +262969,7 @@ synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612406] synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103] synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2] xref: DOID:0090042 {source="MONDO:equivalentTo"} +xref: GARD:10536 {source="Orphanet:370103"} xref: ICD10CM:G24.1 {source="DOID:0090042", source="Orphanet:370103/attributed", source="Orphanet:370103/ntbt", source="Orphanet:370103"} xref: MESH:C567319 {source="MONDO:equivalentTo"} xref: OMIM:612406 {source="Orphanet:370103/e", source="DOID:0090042", source="MONDO:equivalentTo", source="Orphanet:370103"} @@ -256560,7 +262999,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012897 name: congenital factor XI deficiency def: "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." [Orphanet:329] -subset: gard_rare {source="GARD:0009670"} +subset: gard_rare {source="GARD:9670"} subset: ordo_disease {source="Orphanet:329"} synonym: "congenital factor XI deficiency" EXACT CLINGEN_PREFERRED [DOID:2229, ICD9CM:286.2] synonym: "F11 deficiency" RELATED [OMIM:612416] @@ -256579,6 +263018,7 @@ synonym: "Rosenthal factor deficiency" EXACT [Orphanet:329] synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329] synonym: "Rosenthal's disease" EXACT [DOID:2229] xref: DOID:2229 {source="MONDO:equivalentTo"} +xref: GARD:9670 {source="Orphanet:329"} xref: ICD10CM:D68.1 {source="Orphanet:329", source="Orphanet:329/specific", source="DOID:2229", source="Orphanet:329/e"} xref: ICD9:286.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2229"} xref: MESH:D005173 {source="DOID:2229"} @@ -256604,10 +263044,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9670/factor- [Term] id: MONDO:0012898 name: narcolepsy 4, susceptibility to +subset: gard_rare {source="GARD:15555"} subset: predisposition synonym: "narcolepsy 4" RELATED [OMIM:612417, OMIM:genemap2] synonym: "narcolepsy 4, susceptibility to" EXACT [OMIM:612417] synonym: "NRCLP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612417] +xref: GARD:15555 {source="OMIM:612417"} xref: OMIM:612417 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:612417"} xref: UMLS:C2676275 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612417"} @@ -256632,12 +263074,14 @@ property_value: confidence "1.541757443718228" xsd:double id: MONDO:0012900 name: cardiomyopathy, familial restrictive, 3 def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18072"} synonym: "cardiomyopathy, familial restrictive, 3" EXACT [MONDO:Lexical, OMIM:612422] synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1, OMIM:612422] synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] synonym: "RCM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612422] synonym: "TNNT2 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111427 {source="MONDO:equivalentTo"} +xref: GARD:18072 {source="OMIM:612422"} xref: MESH:C567316 {source="MONDO:equivalentTo"} xref: OMIM:612422 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:612422"} @@ -256650,7 +263094,7 @@ property_value: confidence "1.1130104463437793" xsd:double id: MONDO:0012901 name: inherited prekallikrein deficiency def: "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare {source="GARD:0004477"} +subset: gard_rare {source="GARD:4477"} subset: ordo_disease {source="Orphanet:749"} synonym: "congenital prekallikrein deficiency" EXACT [Orphanet:749] synonym: "fletcher factor (prekallikrein) deficiency" EXACT [OMIM:612423, OMIM:genemap2] @@ -256659,6 +263103,7 @@ synonym: "hereditary prekallikrein deficiency" EXACT [MONDO:patterns/hereditary] synonym: "PKK deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477] +xref: GARD:4477 {source="Orphanet:749"} xref: ICD10CM:D68.8 {source="Orphanet:749", source="Orphanet:749/attributed", source="Orphanet:749/ntbt"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562725 {source="MONDO:equivalentTo"} @@ -256678,12 +263123,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4477/prekall id: MONDO:0012902 name: autosomal dominant nonsyndromic hearing loss 27 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." [DOID:0110556, PMID:18279434] +subset: gard_rare {source="GARD:18128"} synonym: "autosomal dominant deafness 27" NARROW [DOID:0110556] synonym: "autosomal dominant nonsyndromic deafness 27" NARROW [OMIM:612431] synonym: "autosomal dominant nonsyndromic deafness type 27" NARROW [DOID:0110556, MONDORULE:2] synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical, OMIM:612431, OMIM:genemap2] synonym: "DFNA27" NARROW ABBREVIATION [DOID:0110556, MONDO:Lexical, OMIM:612431] xref: DOID:0110556 {source="MONDO:equivalentTo"} +xref: GARD:18128 {source="OMIM:612431"} xref: ICD10CM:H90.3 {source="DOID:0110556"} xref: OMIM:612431 {source="DOID:0110556", source="MONDO:equivalentTo"} xref: UMLS:C1413996 {source="OMIM:612431", source="MONDO:notFoundInDiseaseSubset"} @@ -256696,12 +263143,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012903 name: autosomal recessive nonsyndromic hearing loss 45 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." [DOID:0110502, PMID:18325041] +subset: gard_rare {source="GARD:22628"} synonym: "autosomal recessive deafness 45" NARROW [DOID:0110502] synonym: "autosomal recessive nonsyndromic deafness 45" NARROW [OMIM:612433] synonym: "autosomal recessive nonsyndromic deafness type 45" NARROW [DOID:0110502, MONDORULE:2] synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical, OMIM:612433, OMIM:genemap2] synonym: "DFNB45" NARROW ABBREVIATION [DOID:0110502, MONDO:Lexical, OMIM:612433] xref: DOID:0110502 {source="MONDO:equivalentTo"} +xref: GARD:22628 {source="OMIM:612433"} xref: ICD10CM:H90.3 {source="DOID:0110502"} xref: OMIM:612433 {source="DOID:0110502", source="MONDO:equivalentTo"} xref: UMLS:C1539278 {source="OMIM:612433", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -256713,6 +263162,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012904 name: epilepsy, progressive myoclonic, 1B def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15556"} synonym: "epilepsy, progressive myoclonic 1B" EXACT [OMIM:612437, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 1B" EXACT [MONDO:Lexical, OMIM:612437] synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4, OMIM:612437] @@ -256720,6 +263170,7 @@ synonym: "EPM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612437] synonym: "PRICKLE1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE1" EXACT [MONDO:design_pattern] xref: DOID:0111448 {source="MONDO:equivalentTo"} +xref: GARD:15556 {source="OMIM:612437"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580388 {source="MONDO:equivalentTo"} xref: OMIM:612437 {source="MONDO:equivalentTo"} @@ -256737,6 +263188,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012905 name: hypomyelinating leukodystrophy 6 def: "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." [Orphanet:139441] +subset: gard_rare {source="GARD:10917", source="GARD:15557"} subset: ordo_disease {source="Orphanet:139441"} synonym: "H-ABC" EXACT [DOID:0060798, Orphanet:139441] synonym: "HABC" EXACT ABBREVIATION [DOID:0060798] @@ -256748,6 +263200,8 @@ synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical, OMIM:61243 synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:612438] synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438] xref: DOID:0060798 {source="MONDO:equivalentTo"} +xref: GARD:10917 {source="Orphanet:139441"} +xref: GARD:15557 {source="OMIM:612438"} xref: ICD10CM:E75.2 {source="DOID:0060798", source="Orphanet:139441/attributed", source="Orphanet:139441/ntbt", source="Orphanet:139441"} xref: MESH:C567314 {source="MONDO:equivalentTo"} xref: OMIM:612438 {source="Orphanet:139441/e", source="DOID:0060798", source="MONDO:equivalentTo", source="Orphanet:139441"} @@ -256760,6 +263214,7 @@ property_value: confidence "13.769230769230768" xsd:double id: MONDO:0012906 name: primary ciliary dyskinesia 9 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15558"} synonym: "CILD9" EXACT ABBREVIATION [DOID:0110622, MONDO:Lexical, OMIM:612444] synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical, OMIM:612444] synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [OMIM:612444] @@ -256770,6 +263225,7 @@ synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [DO synonym: "primary ciliary dyskinesia caused by mutation in DNAI2" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 9" EXACT [DOID:0110622, MONDORULE:1] xref: DOID:0110622 {source="MONDO:equivalentTo"} +xref: GARD:15558 {source="OMIM:612444"} xref: ICD10CM:Q34.8 {source="DOID:0110622"} xref: MESH:C567310 {source="MONDO:equivalentTo"} xref: OMIM:612444 {source="DOID:0110622", source="MONDO:equivalentTo"} @@ -256783,8 +263239,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012907 name: blindness - scoliosis - arachnodactyly syndrome def: "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." [Orphanet:171844] +subset: gard_rare {source="GARD:17070"} subset: ordo_malformation_syndrome {source="Orphanet:171844"} synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445] +xref: GARD:17070 {source="Orphanet:171844"} xref: MESH:C567309 {source="MONDO:equivalentTo"} xref: OMIM:612445 {source="Orphanet:171844/e", source="MONDO:equivalentTo", source="Orphanet:171844"} xref: Orphanet:171844 {source="OMIM:612445", source="MONDO:equivalentTo"} @@ -256799,6 +263257,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012908 name: complement component 6 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18291"} synonym: "C6 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C6 deficiency" RELATED [OMIM:612446] synonym: "C6 deficiency, subtotal" RELATED [OMIM:612446] @@ -256807,6 +263266,7 @@ synonym: "classic complement early component deficiency caused by mutation in C6 synonym: "complement component 6 deficiency" EXACT [MONDO:Lexical, OMIM:612446] synonym: "complement component 6 deficiency, subtotal" RELATED [OMIM:612446] xref: DOID:0060299 {source="MONDO:equivalentTo"} +xref: GARD:18291 {source="OMIM:612446"} xref: ICD10CM:D84.1 {source="DOID:0060299"} xref: OMIM:612446 {source="DOID:0060299", source="MONDO:equivalentTo"} xref: Orphanet:169150 {source="DOID:0060299", source="OMIM:612446"} @@ -256846,13 +263306,14 @@ is_a: MONDO:0005562 {source="DC-OMIM:612448"} ! age-related hearing impairment id: MONDO:0012911 name: pseudohypoparathyroidism type 1C def: "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." [Orphanet:79444] -subset: gard_rare {source="GARD:0010681"} +subset: gard_rare {source="GARD:10681"} subset: ordo_disease {source="Orphanet:79444"} synonym: "Php 1C" RELATED [OMIM:612462] synonym: "PHP1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612462] synonym: "pseudohypoparathyroidism Ic" EXACT [OMIM:612462, OMIM:genemap2] synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462] synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462] +xref: GARD:10681 {source="Orphanet:79444"} xref: ICD10CM:E20.1 {source="Orphanet:79444/attributed", source="Orphanet:79444/ntbt", source="Orphanet:79444"} xref: MESH:C548076 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: OMIM:612462 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} @@ -256877,7 +263338,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10681/pseudo id: MONDO:0012912 name: pseudopseudohypoparathyroidism def: "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." [Orphanet:79445] -subset: gard_rare {source="GARD:0007860"} +subset: gard_rare {source="GARD:7860"} subset: ordo_disease {source="Orphanet:79445"} synonym: "aho-PPHP syndrome" EXACT [Orphanet:79445] synonym: "Albright Hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129722] @@ -256890,6 +263351,7 @@ synonym: "pseudo-pseudohypoparathyroidism" RELATED [GARD:0007860] synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860] synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612463] xref: DOID:4183 {source="MONDO:equivalentTo"} +xref: GARD:7860 {source="Orphanet:79445"} xref: ICD10CM:E20.1 {source="Orphanet:79445/attributed", source="Orphanet:79445/ntbt", source="Orphanet:79445"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011556 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} @@ -256915,6 +263377,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7860/pseudop id: MONDO:0012913 name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome def: "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." [NCIT:P378] +subset: gard_rare {source="GARD:15559"} synonym: "chromosome 11P13-p12 deletion syndrome" RELATED [OMIM:612469] synonym: "WAGR syndrome with obesity" RELATED [OMIM:612469] synonym: "WAGRO" RELATED DEPRECATED [MONDO:Lexical, OMIM:612469] @@ -256923,6 +263386,7 @@ synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disabilit synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:612469] synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome" EXACT [NCIT:C122804] synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome" EXACT DEPRECATED [NCIT:C122804] +xref: GARD:15559 {source="OMIM:612469"} xref: MESH:C567292 {source="MONDO:equivalentTo"} xref: NCIT:C122804 {source="MONDO:equivalentTo"} xref: OMIM:612469 {source="MONDO:equivalentTo"} @@ -256935,6 +263399,7 @@ is_a: MONDO:0015356 {source="MESH:C567292/inferred", source="MONDO:Redundant", s id: MONDO:0012914 name: chromosome 1q21.1 deletion syndrome def: "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." [Orphanet:250989] +subset: gard_rare {source="GARD:10813"} subset: ordo_malformation_syndrome {source="Orphanet:250989"} synonym: "1q21.1 microdeletion" RELATED [GARD:0010813] synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411] @@ -256946,6 +263411,7 @@ synonym: "Del(1)(q21)" EXACT [Orphanet:250989] synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989] xref: DECIPHER:62 {source="MONDO:equivalentTo"} xref: DOID:0060411 {source="MONDO:equivalentTo"} +xref: GARD:10813 {source="Orphanet:250989"} xref: ICD10CM:Q93.5 {source="DOID:0060411", source="Orphanet:250989/attributed", source="Orphanet:250989/ntbt", source="Orphanet:250989"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:612474 {source="DOID:0060411", source="Orphanet:250989/e", source="MONDO:equivalentTo", source="Orphanet:250989"} @@ -256964,7 +263430,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012915 name: chromosome 1q21.1 duplication syndrome def: "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." [https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome] -subset: gard_rare {source="GARD:0010591"} +subset: gard_rare {source="GARD:10591"} subset: ordo_malformation_syndrome {source="Orphanet:250994"} synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435] synonym: "1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:67] @@ -256974,6 +263440,7 @@ synonym: "dup(1)(q21.1)" EXACT [Orphanet:250994] synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994] xref: DECIPHER:67 {source="MONDO:equivalentTo"} xref: DOID:0060435 {source="MONDO:equivalentTo"} +xref: GARD:10591 {source="Orphanet:250994"} xref: MESH:C567290 {source="MONDO:equivalentTo"} xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="Orphanet:250994/e"} xref: Orphanet:250994 {source="OMIM:612475", source="DOID:0060435", source="MONDO:equivalentTo"} @@ -256991,6 +263458,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10591/chromo id: MONDO:0012916 name: chromosome 2p16.1-p15 deletion syndrome def: "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261349] +subset: gard_rare {source="GARD:13391"} subset: ordo_malformation_syndrome {source="Orphanet:261349"} synonym: "2p15-p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349] synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415] @@ -257001,6 +263469,7 @@ synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349] synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349] xref: DECIPHER:70 {source="MONDO:equivalentTo"} xref: DOID:0060415 {source="MONDO:equivalentTo"} +xref: GARD:13391 {source="Orphanet:261349"} xref: ICD10CM:Q93.5 {source="DOID:0060415", source="Orphanet:261349/attributed", source="Orphanet:261349/ntbt", source="Orphanet:261349"} xref: MESH:C567289 {source="MONDO:equivalentTo"} xref: OMIM:612513 {source="Orphanet:261349/e", source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349"} @@ -257032,6 +263501,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012918 name: primary ciliary dyskinesia 10 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15560"} synonym: "CILD10" EXACT ABBREVIATION [DOID:0110612, MONDO:Lexical, OMIM:612518] synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical, OMIM:612518] synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [OMIM:612518] @@ -257041,6 +263511,7 @@ synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in DNAAF2" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 10" EXACT [DOID:0110612, MONDORULE:2] xref: DOID:0110612 {source="MONDO:equivalentTo"} +xref: GARD:15560 {source="OMIM:612518"} xref: ICD10CM:Q34.8 {source="DOID:0110612"} xref: MESH:C567287 {source="MONDO:equivalentTo"} xref: OMIM:612518 {source="DOID:0110612", source="MONDO:equivalentTo"} @@ -257133,7 +263604,7 @@ property_value: confidence "3.8773052888279222" xsd:double id: MONDO:0012923 name: congenital generalized lipodystrophy type 3 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0013389"} +subset: gard_rare {source="GARD:13389"} synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [DOID:0111137] synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [OMIM:612526] synonym: "BSCL3" EXACT ABBREVIATION [DOID:0111137] @@ -257146,6 +263617,7 @@ synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [OMIM:612 synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical, OMIM:612526] synonym: "type 3 Berardinelli-Seip congenital lipodystrophy" RELATED [GARD:0013389] xref: DOID:0111137 {source="MONDO:equivalentTo"} +xref: GARD:13389 {source="OMIM:612526"} xref: ICD10CM:E88.1 {source="DOID:0111137"} xref: MESH:C567282 {source="MONDO:equivalentTo"} xref: OMIM:612526 {source="MONDO:equivalentTo", source="DOID:0111137"} @@ -257165,6 +263637,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13389/congen id: MONDO:0012924 name: Diamond-Blackfan anemia 4 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15561"} synonym: "DBA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612527] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS17" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 4" EXACT OMO:0003005 [] @@ -257174,6 +263647,7 @@ synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527] synonym: "RPS17 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111890 {source="MONDO:equivalentTo"} +xref: GARD:15561 {source="OMIM:612527"} xref: MESH:C567281 {source="MONDO:equivalentTo"} xref: NCIT:C176913 {source="MONDO:equivalentTo"} xref: OMIM:612527 {source="MONDO:equivalentTo"} @@ -257187,6 +263661,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012925 name: Diamond-Blackfan anemia 5 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15562"} synonym: "DBA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612528] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL35A" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 5" EXACT OMO:0003005 [] @@ -257196,6 +263671,7 @@ synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528] synonym: "RPL35A Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111883 {source="MONDO:equivalentTo"} +xref: GARD:15562 {source="OMIM:612528"} xref: MESH:C567280 {source="MONDO:equivalentTo"} xref: NCIT:C176914 {source="MONDO:equivalentTo"} xref: OMIM:612528 {source="MONDO:equivalentTo"} @@ -257210,6 +263686,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012926 name: amelogenesis imperfecta hypomaturation type 2A2 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15563"} synonym: "AI2A2" EXACT ABBREVIATION [DOID:0110060, MONDO:Lexical, OMIM:612529] synonym: "amelogenesis imperfecta caused by mutation in MMP20" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [DOID:0110060] @@ -257220,6 +263697,7 @@ synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [OM synonym: "amelogenesis imperfecta, type IIA2" EXACT [OMIM:612529, OMIM:genemap2] synonym: "MMP20 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110060 {source="MONDO:equivalentTo"} +xref: GARD:15563 {source="OMIM:612529"} xref: ICD10CM:K00.5 {source="DOID:0110060"} xref: MESH:C567279 {source="MONDO:equivalentTo"} xref: OMIM:612529 {source="DOID:0110060", source="MONDO:equivalentTo"} @@ -257238,7 +263716,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012927 name: chromosome 1q41-q42 deletion syndrome def: "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." [Orphanet:250999] -subset: gard_rare {source="GARD:0003738"} +subset: gard_rare {source="GARD:3738"} subset: ordo_malformation_syndrome {source="Orphanet:250999"} synonym: "1q41-q42 deletion syndrome" RELATED [GARD:0003738] synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999] @@ -257251,6 +263729,7 @@ synonym: "holoprosencephaly 10" RELATED [OMIM:612530] synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999] synonym: "monosomy 1q41q42" EXACT [Orphanet:250999] xref: DOID:0060412 {source="MONDO:equivalentTo"} +xref: GARD:3738 {source="Orphanet:250999"} xref: ICD10CM:Q93.5 {source="Orphanet:250999/attributed", source="Orphanet:250999/ntbt", source="DOID:0060412", source="Orphanet:250999"} xref: OMIM:612530 {source="Orphanet:250999/e", source="MONDO:equivalentTo", source="DOID:0060412", source="Orphanet:250999"} xref: Orphanet:2162 {source="OMIM:612530"} @@ -257274,6 +263753,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3738/chromos id: MONDO:0012928 name: hereditary spastic paraplegia 42 def: "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." [Orphanet:171863] +subset: gard_rare {source="GARD:17073"} subset: ordo_disease {source="Orphanet:171863"} synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794] @@ -257283,6 +263763,7 @@ synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:desig synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539] synonym: "SPG42" EXACT ABBREVIATION [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863] xref: DOID:0110794 {source="MONDO:equivalentTo"} +xref: GARD:17073 {source="Orphanet:171863"} xref: ICD10CM:G11.4 {source="Orphanet:171863/attributed", source="Orphanet:171863/ntbt", source="DOID:0110794", source="Orphanet:171863"} xref: MESH:C567262 {source="MONDO:equivalentTo"} xref: OMIM:612539 {source="Orphanet:171863/e", source="MONDO:equivalentTo", source="DOID:0110794", source="Orphanet:171863"} @@ -257298,12 +263779,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012929 name: Compton-North congenital myopathy +subset: gard_rare {source="GARD:17111"} subset: ordo_disease {source="Orphanet:210163"} synonym: "Compton-North congenital myopathy" EXACT CLINGEN_PREFERRED [] synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:210163] synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540] synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612540] xref: DOID:0080101 {source="MONDO:equivalentTo"} +xref: GARD:17111 {source="Orphanet:210163"} xref: ICD10CM:G71.2 {source="Orphanet:210163/attributed", source="Orphanet:210163/ntbt", source="Orphanet:210163"} xref: MESH:C567261 {source="MONDO:equivalentTo"} xref: OMIM:612540 {source="DOID:0080101", source="Orphanet:210163/e", source="MONDO:equivalentTo", source="Orphanet:210163"} @@ -257318,6 +263801,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012930 name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +subset: gard_rare {source="GARD:17511"} subset: ordo_disease {source="Orphanet:331176"} synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "Dursun syndrome" RELATED [OMIM:612541] @@ -257328,6 +263812,7 @@ synonym: "SCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612541, Orphanet:331176] synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176] xref: DOID:0112136 {source="MONDO:equivalentTo"} +xref: GARD:17511 {source="Orphanet:331176"} xref: ICD10CM:D70 {source="Orphanet:331176", source="Orphanet:331176/attributed", source="Orphanet:331176/ntbt"} xref: OMIM:612541 {source="Orphanet:331176", source="MONDO:equivalentTo", source="Orphanet:331176/e"} xref: Orphanet:178503 {source="OMIM:612541"} @@ -257349,6 +263834,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012931 name: focal segmental glomerulosclerosis 4, susceptibility to def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15564"} subset: predisposition synonym: "APOL1 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [OMIM:612551] @@ -257357,6 +263843,7 @@ synonym: "focal segmental glomerulosclerosis caused by mutation in APOL1" EXACT synonym: "FSGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612551] synonym: "glomerulosclerosis, focal segmental, 4, susceptibility to" EXACT [OMIM:612551, OMIM:genemap2] synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [OMIM:612551] +xref: GARD:15564 {source="OMIM:612551"} xref: OMIM:612551 {source="MONDO:equivalentTo"} xref: UMLS:C2675525 {source="OMIM:612551", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -257382,6 +263869,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012933 name: breast-ovarian cancer, familial, susceptibility to, 2 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12352"} subset: predisposition synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] @@ -257392,6 +263880,7 @@ synonym: "BROVCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612555] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555] +xref: GARD:12352 {source="OMIM:612555"} xref: OMIM:612555 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:612555"} xref: Orphanet:227535 {source="OMIM:612555"} @@ -257411,10 +263900,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012934 name: leukemia, chronic lymphocytic, susceptibility to, 3 +subset: gard_rare {source="GARD:15565"} subset: predisposition synonym: "Clls3" RELATED [OMIM:612557] synonym: "leukemia, chronic lymphocytic, susceptibility to, 3" EXACT [OMIM:612557] synonym: "leukemia, chronic lymphocytic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612557] +xref: GARD:15565 {source="OMIM:612557"} xref: OMIM:612557 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612557"} xref: UMLS:C2675516 {source="OMIM:612557", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -257425,11 +263916,13 @@ property_value: confidence "1.5244851391448875" xsd:double [Term] id: MONDO:0012935 name: leukemia, chronic lymphocytic, susceptibility to, 4 +subset: gard_rare {source="GARD:15566"} subset: predisposition synonym: "Clls4" RELATED [OMIM:612558] synonym: "leukemia, chronic lymphocytic susceptibility to, 4" EXACT [OMIM:612558, OMIM:genemap2] synonym: "leukemia, chronic lymphocytic, susceptibility to, 4" EXACT [OMIM:612558] synonym: "leukemia, chronic lymphocytic, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612558] +xref: GARD:15566 {source="OMIM:612558"} xref: OMIM:612558 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612558"} xref: UMLS:C2675515 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612558"} @@ -257441,11 +263934,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012936 name: leukemia, chronic lymphocytic, susceptibility to, 5 +subset: gard_rare {source="GARD:15567"} subset: predisposition synonym: "Clls5" RELATED [OMIM:612559] synonym: "leukemia, chronic lymphocytic susceptibility to, 5" EXACT [OMIM:612559, OMIM:genemap2] synonym: "leukemia, chronic lymphocytic, susceptibility to, 5" EXACT [OMIM:612559] synonym: "leukemia, chronic lymphocytic, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612559] +xref: GARD:15567 {source="OMIM:612559"} xref: OMIM:612559 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612559"} xref: UMLS:C2675514 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612559"} @@ -257458,6 +263953,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012937 name: Diamond-Blackfan anemia 6 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15568"} synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561] synonym: "DBA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612561] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL5" EXACT OMO:0003005 [] @@ -257468,6 +263964,7 @@ synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561] synonym: "RPL5 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111879 {source="MONDO:equivalentTo"} +xref: GARD:15568 {source="OMIM:612561"} xref: NCIT:C176915 {source="MONDO:equivalentTo"} xref: OMIM:612561 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:612561"} @@ -257482,6 +263979,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012938 name: Diamond-Blackfan anemia 7 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15569"} synonym: "DBA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612562] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL11" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 7" EXACT OMO:0003005 [] @@ -257491,6 +263989,7 @@ synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562] synonym: "RPL11 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111878 {source="MONDO:equivalentTo"} +xref: GARD:15569 {source="OMIM:612562"} xref: MESH:C567254 {source="MONDO:equivalentTo"} xref: NCIT:C176916 {source="MONDO:equivalentTo"} xref: OMIM:612562 {source="MONDO:equivalentTo"} @@ -257504,6 +264003,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012939 name: Diamond-Blackfan anemia 8 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15570"} synonym: "DBA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612563] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS7" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 8" EXACT OMO:0003005 [] @@ -257513,6 +264013,7 @@ synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563] synonym: "RPS7 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111881 {source="MONDO:equivalentTo"} +xref: GARD:15570 {source="OMIM:612563"} xref: MESH:C567253 {source="MONDO:equivalentTo"} xref: NCIT:C176917 {source="MONDO:equivalentTo"} xref: OMIM:612563 {source="MONDO:equivalentTo"} @@ -257541,6 +264042,7 @@ is_a: MONDO:0005265 {source="DC-OMIM:612566", source="DOID:0110908", source="MES id: MONDO:0012941 name: inflammatory bowel disease 25 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18342"} synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909] synonym: "IBD25" EXACT ABBREVIATION [DOID:0110909, MONDO:Lexical, OMIM:612567] synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -257550,6 +264052,7 @@ synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO: synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567] xref: DOID:0110909 {source="MONDO:equivalentTo"} +xref: GARD:18342 {source="OMIM:612567"} xref: MESH:C567251 {source="MONDO:equivalentTo"} xref: OMIM:612567 {source="MONDO:equivalentTo", source="DOID:0110909"} xref: Orphanet:238569 {source="OMIM:612567"} @@ -257579,6 +264082,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012943 name: retinitis pigmentosa 46 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15571"} synonym: "IDH3B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 46" EXACT [MONDO:Lexical, OMIM:612572] synonym: "retinitis pigmentosa caused by mutation in IDH3B" EXACT [MONDO:design_pattern] @@ -257586,6 +264090,7 @@ synonym: "retinitis pigmentosa type 46" EXACT [DOID:0110409, MONDORULE:2, OMIM:6 synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-related" RELATED [OMIM:612572] synonym: "RP46" EXACT ABBREVIATION [DOID:0110409, MONDO:Lexical, OMIM:612572] xref: DOID:0110409 {source="MONDO:equivalentTo"} +xref: GARD:15571 {source="OMIM:612572"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110409"} xref: MESH:C567249 {source="MONDO:equivalentTo"} xref: OMIM:612572 {source="MONDO:equivalentTo", source="DOID:0110409"} @@ -257603,8 +264108,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012944 name: chromosome 17P13.3, telomeric, duplication syndrome +subset: gard_rare {source="GARD:15572"} synonym: "chromosome 17P13.3, telomeric, duplication syndrome" EXACT [OMIM:612576] synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [OMIM:612576] +xref: GARD:15572 {source="OMIM:612576"} xref: MESH:C567245 {source="MONDO:equivalentTo"} xref: OMIM:612576 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="OMIM:612576"} @@ -257618,13 +264125,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012945 name: amyotrophic lateral sclerosis type 11 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010496"} +subset: gard_rare {source="GARD:10496"} synonym: "ALS11" EXACT ABBREVIATION [DOID:0060202, MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis 11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis caused by mutation in FIG4" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 11" EXACT [MONDORULE:2, OMIM:612577] synonym: "FIG4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060202 {source="MONDO:equivalentTo"} +xref: GARD:10496 {source="OMIM:612577"} xref: MESH:C567244 {source="MONDO:equivalentTo"} xref: OMIM:612577 {source="DOID:0060202", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:612577"} @@ -257640,6 +264148,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10496/amyotr id: MONDO:0012946 name: intellectual disability, autosomal dominant 3 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16454"} synonym: "autosomal dominant intellectual disability 3" EXACT [DOID:0070033] synonym: "autosomal dominant mental retardation 3" EXACT DEPRECATED [DOID:0070033] synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [DOID:0070033] @@ -257651,6 +264160,7 @@ synonym: "mental retardation, autosomal dominant 3" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:612580] synonym: "MRD3" EXACT ABBREVIATION [DOID:0070033, MONDO:Lexical, OMIM:612580] xref: DOID:0070033 {source="MONDO:equivalentTo"} +xref: GARD:16454 {source="OMIM:612580"} xref: MESH:C567241 {source="MONDO:equivalentTo"} xref: OMIM:612580 {source="DOID:0070033", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:612580"} @@ -257666,6 +264176,7 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0012947 name: intellectual disability, autosomal dominant 4 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16455"} synonym: "autosomal dominant intellectual disability 4" EXACT [DOID:0070034] synonym: "autosomal dominant mental retardation 4" EXACT DEPRECATED [DOID:0070034] synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [DOID:0070034] @@ -257677,6 +264188,7 @@ synonym: "mental retardation, autosomal dominant 4" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:612581] synonym: "MRD4" EXACT ABBREVIATION [DOID:0070034, MONDO:Lexical, OMIM:612581] xref: DOID:0070034 {source="MONDO:equivalentTo"} +xref: GARD:16455 {source="OMIM:612581"} xref: MESH:C567240 {source="MONDO:equivalentTo"} xref: OMIM:612581 {source="DOID:0070034", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:612581"} @@ -257692,6 +264204,7 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0012948 name: chromosome 6pter-p24 deletion syndrome def: "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." [Orphanet:96125] +subset: gard_rare {source="GARD:16845"} subset: ordo_malformation_syndrome {source="Orphanet:96125"} synonym: "6p subtelomeric deletion syndrome" EXACT [DOID:0060422, Orphanet:96125] synonym: "6p25 microdeletion syndrome" EXACT [DOID:0060422, Orphanet:96125] @@ -257702,6 +264215,7 @@ synonym: "distal monosomy 6p" EXACT [DOID:0060422] synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125] synonym: "monosomy 6p25" EXACT [Orphanet:96125] xref: DOID:0060422 {source="MONDO:equivalentTo"} +xref: GARD:16845 {source="Orphanet:96125"} xref: ICD10CM:Q93.5 {source="Orphanet:96125", source="Orphanet:96125/attributed", source="Orphanet:96125/ntbt", source="DOID:0060422"} xref: MESH:C567239 {source="MONDO:equivalentTo"} xref: OMIM:612582 {source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo", source="Orphanet:96125/e"} @@ -257727,9 +264241,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012949 name: aneurysm, intracranial berry, 9 +subset: gard_rare {source="GARD:18327"} synonym: "aneurysm, intracranial BERRY, 9" RELATED [MONDO:Lexical, OMIM:612586] synonym: "ANIB9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612586] xref: DOID:0080972 {source="MONDO:equivalentTo"} +xref: GARD:18327 {source="OMIM:612586"} xref: MESH:C567238 {source="MONDO:equivalentTo"} xref: OMIM:612586 {source="MONDO:equivalentTo"} xref: UMLS:C2675485 {source="OMIM:612586", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -257739,9 +264255,11 @@ property_value: confidence "2.900441907477719" xsd:double [Term] id: MONDO:0012950 name: aneurysm, intracranial berry, 10 +subset: gard_rare {source="GARD:18328"} synonym: "aneurysm, intracranial BERRY, 10" RELATED [MONDO:Lexical, OMIM:612587] synonym: "ANIB10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612587] xref: DOID:0080973 {source="MONDO:equivalentTo"} +xref: GARD:18328 {source="OMIM:612587"} xref: MESH:C567237 {source="MONDO:equivalentTo"} xref: OMIM:612587 {source="MONDO:equivalentTo"} xref: UMLS:C2675484 {source="OMIM:612587", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -257780,6 +264298,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012953 name: colorectal cancer, susceptibility to, 10 def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18485"} subset: predisposition synonym: "colorectal cancer caused by mutation in POLD1" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 10" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612591] @@ -257788,6 +264307,7 @@ synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2, OMI synonym: "CRCS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612591] synonym: "POLD1 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to colorectal cancer 10" RELATED [OMIM:612591] +xref: GARD:18485 {source="OMIM:612591"} xref: OMIM:612591 {source="MONDO:equivalentTo"} xref: UMLS:C2675481 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612591"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -257884,6 +264404,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012960 name: intellectual disability, autosomal dominant 5 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12558"} synonym: "autosomal dominant intellectual disability 5" EXACT [DOID:0070035] synonym: "autosomal dominant mental retardation 5" EXACT DEPRECATED [DOID:0070035] synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [DOID:0070035] @@ -257899,6 +264420,7 @@ synonym: "SYNGAP1 syndrome" RELATED [GARD:0012558] synonym: "SYNGAP1-related non-syndromic intellectual disability" RELATED [GARD:0012558] synonym: "SYNGAP1-related NSID" RELATED [GARD:0012558] xref: DOID:0070035 {source="MONDO:equivalentTo"} +xref: GARD:12558 {source="OMIM:612621"} xref: MESH:C567234 {source="MONDO:equivalentTo"} xref: OMIM:612621 {source="DOID:0070035", source="MONDO:equivalentTo"} xref: UMLS:C2675473 {source="OMIM:612621", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -257975,6 +264497,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012964 name: chromosome 15q26-qter deletion syndrome def: "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." [Orphanet:1596] +subset: gard_rare {source="GARD:16572"} subset: ordo_malformation_syndrome {source="Orphanet:1596"} synonym: "15q26 deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] synonym: "chromosome 15q26-qter deletion syndrome" EXACT [OMIM:612626] @@ -257986,6 +264509,7 @@ synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626] synonym: "monosomy 15q26" EXACT [Orphanet:1596] synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] xref: DOID:0060397 {source="MONDO:equivalentTo"} +xref: GARD:16572 {source="Orphanet:1596"} xref: ICD10CM:Q93.5 {source="Orphanet:1596", source="DOID:0060397", source="Orphanet:1596/attributed", source="Orphanet:1596/ntbt"} xref: MESH:C567232 {source="DOID:0060397", source="MONDO:equivalentTo"} xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="MONDO:equivalentTo", source="Orphanet:1596/e"} @@ -258004,10 +264528,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012965 name: seizures, benign familial infantile, 4 +subset: gard_rare {source="GARD:16505"} synonym: "BFIS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612627] synonym: "convulsions, benign familial infantile, 4" RELATED [OMIM:612627] synonym: "seizures, benign familial infantile, 4" EXACT [MONDO:Lexical, OMIM:612627] xref: DOID:0081117 {source="MONDO:equivalentTo"} +xref: GARD:16505 {source="OMIM:612627"} xref: MESH:C567231 {source="MONDO:equivalentTo"} xref: OMIM:612627 {source="MONDO:equivalentTo"} xref: Orphanet:306 {source="OMIM:612627"} @@ -258039,9 +264565,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012967 name: hemolytic anemia due to adenylate kinase deficiency def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817] +subset: gard_rare {source="GARD:16760"} subset: ordo_disease {source="Orphanet:86817"} synonym: "ADENYLATE KINASE deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631] +xref: GARD:16760 {source="Orphanet:86817"} xref: ICD10CM:D55.3 {source="Orphanet:86817/attributed", source="Orphanet:86817/ntbt", source="Orphanet:86817"} xref: MESH:C567228 {source="MONDO:equivalentTo"} xref: OMIM:612631 {source="Orphanet:86817/e", source="MONDO:equivalentTo", source="Orphanet:86817"} @@ -258056,11 +264584,13 @@ property_value: confidence "3.666666666666668" xsd:double id: MONDO:0012968 name: Usher syndrome type 1H def: "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." [DOID:0110835, PMID:18505454] +subset: gard_rare {source="GARD:15573"} synonym: "USH1H" EXACT ABBREVIATION [DOID:0110835, MONDO:Lexical, OMIM:612632] synonym: "Usher syndrome type IH" EXACT [DOID:0110835] synonym: "Usher syndrome, type 1H" EXACT [OMIM:612632, OMIM:genemap2] synonym: "USHER syndrome, type IH" RELATED [MONDO:Lexical, OMIM:612632] xref: DOID:0110835 {source="MONDO:equivalentTo"} +xref: GARD:15573 {source="OMIM:612632"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110835"} xref: MESH:C567227 {source="MONDO:equivalentTo"} xref: OMIM:612632 {source="DOID:0110835", source="MONDO:equivalentTo"} @@ -258169,12 +264699,14 @@ is_a: MONDO:0005265 {source="DC-OMIM:612639", source="DOID:0110901", source="MES id: MONDO:0012974 name: autosomal dominant nonsyndromic hearing loss 59 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." [DOID:0110583, PMID:19030898] +subset: gard_rare {source="GARD:18129"} synonym: "autosomal dominant deafness 59" NARROW [DOID:0110583] synonym: "autosomal dominant nonsyndromic deafness 59" NARROW [OMIM:612642] synonym: "autosomal dominant nonsyndromic deafness type 59" NARROW [DOID:0110583, MONDORULE:2] synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical, OMIM:612642, OMIM:genemap2] synonym: "DFNA59" NARROW ABBREVIATION [DOID:0110583, MONDO:Lexical, OMIM:612642] xref: DOID:0110583 {source="MONDO:equivalentTo"} +xref: GARD:18129 {source="OMIM:612642"} xref: ICD10CM:H90.3 {source="DOID:0110583"} xref: MESH:C567216 {source="MONDO:equivalentTo"} xref: OMIM:612642 {source="MONDO:equivalentTo", source="DOID:0110583"} @@ -258187,6 +264719,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012975 name: autosomal dominant nonsyndromic hearing loss 3B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18130"} synonym: "autosomal dominant deafness 3B" NARROW [DOID:0110565] synonym: "autosomal dominant nonsyndromic deafness 3B" NARROW [OMIM:612643] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB6" NARROW [MONDO:design_pattern] @@ -258197,6 +264730,7 @@ synonym: "deafness, autosomal dominant type 3B" NARROW [MONDORULE:4, OMIM:612643 synonym: "DFNA3B" NARROW ABBREVIATION [DOID:0110565, MONDO:Lexical, OMIM:612643] synonym: "GJB6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110565 {source="MONDO:equivalentTo"} +xref: GARD:18130 {source="OMIM:612643"} xref: ICD10CM:H90.3 {source="DOID:0110565"} xref: MESH:C567215 {source="MONDO:equivalentTo"} xref: OMIM:612643 {source="MONDO:equivalentTo", source="DOID:0110565"} @@ -258212,6 +264746,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012976 name: autosomal dominant nonsyndromic hearing loss 2B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18131"} synonym: "autosomal dominant deafness 2B" NARROW [DOID:0110559] synonym: "autosomal dominant nonsyndromic deafness 2B" NARROW [OMIM:612644] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" NARROW [MONDO:design_pattern] @@ -258222,6 +264757,7 @@ synonym: "deafness, autosomal dominant type 2B" NARROW [MONDORULE:4, OMIM:612644 synonym: "DFNA2B" NARROW ABBREVIATION [DOID:0110559, MONDO:Lexical, OMIM:612644] synonym: "GJB3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110559 {source="MONDO:equivalentTo"} +xref: GARD:18131 {source="OMIM:612644"} xref: ICD10CM:H90.3 {source="DOID:0110559"} xref: MESH:C567214 {source="MONDO:equivalentTo"} xref: OMIM:612644 {source="DOID:0110559", source="MONDO:equivalentTo"} @@ -258237,6 +264773,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012977 name: autosomal recessive nonsyndromic hearing loss 1B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22629"} synonym: "autosomal recessive deafness 1B" NARROW [DOID:0110476] synonym: "Autosomal recessive deafness type 1B" NARROW [GTR:AN1075764] synonym: "autosomal recessive nonsyndromic deafness 1B" NARROW [OMIM:612645] @@ -258248,6 +264785,7 @@ synonym: "deafness, autosomal recessive type 1B" NARROW [MONDORULE:4, OMIM:61264 synonym: "DFNB1B" NARROW ABBREVIATION [DOID:0110476, MONDO:Lexical, OMIM:612645] synonym: "GJB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110476 {source="MONDO:equivalentTo"} +xref: GARD:22629 {source="OMIM:612645"} xref: GTR:AN1075764 xref: ICD10CM:H90.3 {source="DOID:0110476"} xref: MESH:C567213 {source="MONDO:equivalentTo"} @@ -258265,6 +264803,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012978 name: primary ciliary dyskinesia 11 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15574"} synonym: "CILD11" EXACT ABBREVIATION [DOID:0110602, MONDO:Lexical, OMIM:612649] synonym: "ciliary dyskinesia, primary, 11" RELATED [MONDO:Lexical, OMIM:612649] synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [OMIM:612649] @@ -258275,6 +264814,7 @@ synonym: "primary ciliary dyskinesia caused by mutation in RSPH4A" EXACT [MONDO: synonym: "primary ciliary dyskinesia type 11" EXACT [DOID:0110602, MONDORULE:2] synonym: "RSPH4A primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110602 {source="MONDO:equivalentTo"} +xref: GARD:15574 {source="OMIM:612649"} xref: ICD10CM:Q34.8 {source="DOID:0110602"} xref: MESH:C567212 {source="MONDO:equivalentTo"} xref: OMIM:612649 {source="DOID:0110602", source="MONDO:equivalentTo"} @@ -258288,6 +264828,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012979 name: primary ciliary dyskinesia 12 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15575"} synonym: "CILD12" EXACT ABBREVIATION [DOID:0110601, MONDO:Lexical, OMIM:612650] synonym: "ciliary dyskinesia, primary, 12" RELATED [MONDO:Lexical, OMIM:612650] synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [OMIM:612650] @@ -258297,6 +264838,7 @@ synonym: "primary ciliary dyskinesia caused by mutation in RSPH9" EXACT [MONDO:d synonym: "primary ciliary dyskinesia type 12" EXACT [DOID:0110601, MONDORULE:2] synonym: "RSPH9 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110601 {source="MONDO:equivalentTo"} +xref: GARD:15575 {source="OMIM:612650"} xref: ICD10CM:Q34.8 {source="DOID:0110601"} xref: MESH:C567211 {source="MONDO:equivalentTo"} xref: OMIM:612650 {source="DOID:0110601", source="MONDO:equivalentTo"} @@ -258310,11 +264852,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012980 name: endocrine-cerebro-osteodysplasia syndrome def: "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." [Orphanet:199332] +subset: gard_rare {source="GARD:17094"} subset: ordo_malformation_syndrome {source="Orphanet:199332"} synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612651] synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332] synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651] xref: DOID:0060641 {source="MONDO:equivalentTo"} +xref: GARD:17094 {source="Orphanet:199332"} xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="Orphanet:199332/attributed", source="Orphanet:199332/ntbt", source="DOID:0060641"} xref: MESH:C567210 {source="MONDO:equivalentTo"} xref: OMIM:612651 {source="Orphanet:199332", source="DOID:0060641", source="MONDO:equivalentTo", source="Orphanet:199332/e"} @@ -258334,6 +264878,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012981 name: hereditary spherocytosis type 4 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15576"} synonym: "hereditary spherocytosis 4" EXACT [DOID:0110919] synonym: "hereditary spherocytosis caused by mutation in SLC4A1" EXACT [MONDO:design_pattern] synonym: "HS4" EXACT ABBREVIATION [DOID:0110919] @@ -258342,6 +264887,7 @@ synonym: "SPH4" EXACT ABBREVIATION [DOID:0110919, MONDO:Lexical, OMIM:612653] synonym: "spherocytosis, hereditary, 4" RELATED [OMIM:612653] synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical, OMIM:612653] xref: DOID:0110919 {source="MONDO:equivalentTo"} +xref: GARD:15576 {source="OMIM:612653"} xref: MESH:C567208 {source="MONDO:equivalentTo"} xref: OMIM:612653 {source="MONDO:equivalentTo", source="DOID:0110919"} xref: Orphanet:822 {source="OMIM:612653"} @@ -258356,6 +264902,7 @@ property_value: confidence "0.2777777777777777" xsd:double id: MONDO:0012982 name: episodic ataxia type 6 def: "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." [Orphanet:209967] +subset: gard_rare {source="GARD:17107"} subset: ordo_disease {source="Orphanet:209967"} synonym: "EA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612656] synonym: "episodic ataxia type 6" EXACT CLINGEN_PREFERRED [] @@ -258363,6 +264910,7 @@ synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656] synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern] synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050994 {source="MONDO:equivalentTo"} +xref: GARD:17107 {source="Orphanet:209967"} xref: ICD10CM:G11.8 {source="Orphanet:209967", source="Orphanet:209967/attributed", source="Orphanet:209967/ntbt"} xref: MESH:C567207 {source="MONDO:equivalentTo"} xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="MONDO:equivalentTo", source="Orphanet:209967/e"} @@ -258381,12 +264929,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012983 name: cone-rod dystrophy 12 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15577"} synonym: "cone-rod dystrophy 12" EXACT [MONDO:Lexical, OMIM:612657] synonym: "cone-rod dystrophy caused by mutation in PROM1" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 12" EXACT [DOID:0111019, MONDORULE:2, OMIM:612657] synonym: "CORD12" EXACT ABBREVIATION [DOID:0111019, MONDO:Lexical, OMIM:612657] synonym: "PROM1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111019 {source="MONDO:equivalentTo"} +xref: GARD:15577 {source="OMIM:612657"} xref: MESH:C567206 {source="MONDO:equivalentTo"} xref: OMIM:612657 {source="DOID:0111019", source="MONDO:equivalentTo"} xref: UMLS:C2675210 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612657"} @@ -258399,6 +264949,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012984 name: PHARC syndrome def: "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." [Orphanet:171848] +subset: gard_rare {source="GARD:17071"} subset: ordo_disease {source="Orphanet:171848"} synonym: "peripheral neuropathy, Fiskerstrand type" EXACT [Orphanet:171848] synonym: "PHARC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612674] @@ -258407,6 +264958,7 @@ synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and catara synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [Orphanet:171848] synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181] xref: DOID:0080181 {source="MONDO:equivalentTo"} +xref: GARD:17071 {source="Orphanet:171848"} xref: MESH:C567203 {source="MONDO:equivalentTo"} xref: OMIM:612674 {source="Orphanet:171848", source="MONDO:equivalentTo", source="Orphanet:171848/e", source="DOID:0080181"} xref: Orphanet:171848 {source="OMIM:612674", source="MONDO:equivalentTo", source="DOID:0080181"} @@ -258425,6 +264977,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012985 name: hereditary spherocytosis type 5 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15578"} synonym: "EPB42 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spherocytosis 5" EXACT [DOID:0110920] synonym: "hereditary spherocytosis caused by mutation in EPB42" EXACT [MONDO:design_pattern] @@ -258434,6 +264987,7 @@ synonym: "SPH5" EXACT ABBREVIATION [DOID:0110920, MONDO:Lexical, OMIM:612690] synonym: "spherocytosis, hereditary, 5" RELATED [OMIM:612690] synonym: "spherocytosis, type 5" RELATED [MONDO:Lexical, OMIM:612690] xref: DOID:0110920 {source="MONDO:equivalentTo"} +xref: GARD:15578 {source="OMIM:612690"} xref: MESH:C567202 {source="MONDO:equivalentTo"} xref: OMIM:612690 {source="DOID:0110920", source="MONDO:equivalentTo"} xref: Orphanet:822 {source="OMIM:612690"} @@ -258447,11 +265001,12 @@ property_value: confidence "0.2777777777777777" xsd:double [Term] id: MONDO:0012986 name: bilateral parasagittal parieto-occipital polymicrogyria -subset: gard_rare {source="GARD:0010785"} +subset: gard_rare {source="GARD:10785"} subset: ordo_clinical_subtype {source="Orphanet:208441"} synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612691] synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691] xref: DOID:0080923 {source="MONDO:equivalentTo"} +xref: GARD:10785 {source="Orphanet:208441"} xref: ICD10CM:Q04.3 {source="Orphanet:208441", source="Orphanet:208441/attributed", source="Orphanet:208441/ntbt"} xref: MESH:C567201 {source="MONDO:equivalentTo"} xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="Orphanet:208441/e"} @@ -258467,12 +265022,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10785/bilate id: MONDO:0012987 name: agammaglobulinemia 6, autosomal recessive def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15579"} synonym: "agammaglobulinemia 6, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612692] synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [OMIM:612692] synonym: "AGM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612692] synonym: "autosomal agammaglobulinemia caused by mutation in CD79B" EXACT [MONDO:design_pattern] synonym: "CD79B autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081138 {source="MONDO:equivalentTo"} +xref: GARD:15579 {source="OMIM:612692"} xref: OMIM:612692 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:612692"} xref: Orphanet:33110 {source="OMIM:612692"} @@ -258488,7 +265045,7 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0012988 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:10774"} synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702] @@ -258496,6 +265053,7 @@ synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO synonym: "KAL6" NARROW ABBREVIATION [GARD:0010774] synonym: "Kallmann syndrome 6" RELATED [GARD:0010774] xref: DOID:0090086 {source="MONDO:equivalentTo"} +xref: GARD:10774 {source="OMIM:612702"} xref: ICD10CM:E23.0 {source="DOID:0090086", source="MONDO:relatedTo"} xref: MESH:C567199 {source="MONDO:equivalentTo"} xref: OMIM:612702 {source="DOID:0090086", source="MONDO:equivalentTo", source="GARD:0010774"} @@ -258512,11 +265070,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10774/kallma id: MONDO:0012989 name: microcephaly 7, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15580"} synonym: "autosomal recessive primary microcephaly caused by mutation in STIL" EXACT [MONDO:design_pattern] synonym: "MCPH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612703] synonym: "microcephaly 7, primary, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612703] synonym: "STIL autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070278 {source="MONDO:equivalentTo"} +xref: GARD:15580 {source="OMIM:612703"} xref: MESH:C567198 {source="MONDO:equivalentTo"} xref: OMIM:612703 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:612703"} @@ -258531,7 +265091,7 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0012990 name: Leber congenital amaurosis 13 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010882"} +subset: gard_rare {source="GARD:10882"} synonym: "LCA13" EXACT ABBREVIATION [DOID:0110330, MONDO:Lexical, OMIM:612712] synonym: "Leber congenital amaurosis 13" EXACT [MONDO:Lexical, OMIM:612712] synonym: "Leber congenital amaurosis caused by mutation in RDH12" EXACT [MONDO:design_pattern] @@ -258539,6 +265099,7 @@ synonym: "Leber congenital amaurosis type 13" EXACT [DOID:0110330, MONDORULE:2, synonym: "RDH12 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 53" RELATED [OMIM:612712] xref: DOID:0110330 {source="MONDO:equivalentTo"} +xref: GARD:10882 {source="OMIM:612712"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110330"} xref: MESH:C567197 {source="MONDO:equivalentTo"} xref: OMIM:612712 {source="MONDO:equivalentTo", source="DOID:0110330"} @@ -258577,9 +265138,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012992 name: pancreatic insufficiency-anemia-hyperostosis syndrome def: "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." [Orphanet:199337] +subset: gard_rare {source="GARD:17095"} subset: ordo_disease {source="Orphanet:199337"} synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714] synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT [] +xref: GARD:17095 {source="Orphanet:199337"} xref: MESH:C567195 {source="MONDO:equivalentTo"} xref: OMIM:612714 {source="MONDO:equivalentTo", source="Orphanet:199337", source="Orphanet:199337/e"} xref: Orphanet:199337 {source="MONDO:equivalentTo", source="OMIM:612714"} @@ -258599,8 +265162,10 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0012993 name: dyschromatosis universalis hereditaria 2 +subset: gard_rare {source="GARD:15581"} synonym: "DUH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612715] synonym: "dyschromatosis universalis hereditaria 2" EXACT [MONDO:Lexical, OMIM:612715] +xref: GARD:15581 {source="OMIM:612715"} xref: MESH:C567194 {source="MONDO:equivalentTo"} xref: OMIM:612715 {source="MONDO:equivalentTo"} xref: Orphanet:241 {source="OMIM:612715"} @@ -258612,6 +265177,7 @@ property_value: confidence "0.588235294117647" xsd:double id: MONDO:0012994 name: dopa-responsive dystonia due to sepiapterin reductase deficiency def: "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." [Orphanet:70594] +subset: gard_rare {source="GARD:10365"} subset: ordo_disease {source="Orphanet:70594"} synonym: "autosomal recessive sepiapterin reductase-deficient DRD" EXACT [Orphanet:70594] synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT CLINGEN_PREFERRED [DOID:0111168] @@ -258622,6 +265188,7 @@ synonym: "sepiapterin reductase deficiency" EXACT [Orphanet:70594] synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594] synonym: "SRD" EXACT ABBREVIATION [DOID:0111168] xref: DOID:0111168 {source="MONDO:equivalentTo"} +xref: GARD:10365 {source="Orphanet:70594"} xref: ICD10CM:G24.1 {source="Orphanet:70594", source="Orphanet:70594/attributed", source="Orphanet:70594/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562657 {source="MONDO:equivalentTo"} @@ -258652,6 +265219,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012996 name: AGAT deficiency def: "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." [Orphanet:35704] +subset: gard_rare {source="GARD:10323"} subset: ordo_disease {source="Orphanet:35704"} synonym: "AGAT deficiency" EXACT CLINGEN_PREFERRED [OMIM:612718, Orphanet:35704] synonym: "arginine:glycine amidinotransferase deficiency" EXACT [DOID:0050712, OMIM:612718] @@ -258664,6 +265232,7 @@ synonym: "GATM deficiency" EXACT [OMIM:612718] synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_pattern] synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704] xref: DOID:0050712 {source="MONDO:equivalentTo"} +xref: GARD:10323 {source="Orphanet:35704"} xref: ICD10CM:E72.8 {source="Orphanet:35704/attributed", source="Orphanet:35704/ntbt", source="Orphanet:35704"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567192 {source="MONDO:equivalentTo"} @@ -258681,9 +265250,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012997 name: cholestasis-pigmentary retinopathy-cleft palate syndrome def: "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated." [Orphanet:1415] +subset: gard_rare {source="GARD:9280"} subset: ordo_malformation_syndrome {source="Orphanet:1415"} synonym: "HARDIKAR syndrome" RELATED [OMIM:612726] synonym: "Hardikar syndrome" EXACT [Orphanet:1415] +xref: GARD:9280 {source="Orphanet:1415"} xref: MESH:C535632 {source="MONDO:equivalentTo"} xref: OMIM:301068 {source="MONDO:equivalentTo"} xref: OMIM:612726 {source="MONDO:equivalentObsolete", source="Orphanet:1415", source="Orphanet:1415/e"} @@ -258706,7 +265277,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012999 name: guanidinoacetate methyltransferase deficiency def: "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." [Orphanet:382] -subset: gard_rare {source="GARD:0002578"} +subset: gard_rare {source="GARD:2578"} subset: ordo_disease {source="Orphanet:382"} synonym: "CCDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612736] synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Lexical, OMIM:612736] @@ -258717,6 +265288,7 @@ synonym: "GAMT deficiency" EXACT [DOID:0050799, OMIM:612736, Orphanet:382] synonym: "guanidinoacetate methyltransferase deficiency" EXACT CLINGEN_PREFERRED [OMIM:612736] synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern] xref: DOID:0050799 {source="MONDO:equivalentTo"} +xref: GARD:2578 {source="Orphanet:382"} xref: ICD10CM:E72.8 {source="Orphanet:382", source="Orphanet:382/attributed", source="Orphanet:382/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537622 {source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} @@ -258736,7 +265308,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2578/guanidi id: MONDO:0013000 name: porphyria due to ALA dehydratase deficiency def: "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." [Orphanet:100924] -subset: gard_rare +subset: gard_rare {source="GARD:16937"} subset: ordo_disease {source="Orphanet:100924"} synonym: "5-aminolevulinic acid dehydratase deficiency porphyria" RELATED [GARD:0004445] synonym: "acute hepatic porphyria" EXACT [NCIT:C133887, OMIM:612740] @@ -258754,6 +265326,7 @@ synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [ synonym: "porphyria of Doss" EXACT [Orphanet:100924] synonym: "porphyria, acute hepatic" RELATED [OMIM:612740] synonym: "porphyria, ALAD" RELATED [OMIM:612740] +xref: GARD:16937 {source="Orphanet:100924"} xref: ICD10CM:E80.2 {source="Orphanet:100924/attributed", source="Orphanet:100924/ntbt", source="Orphanet:100924"} xref: MESH:C562618 {source="MONDO:equivalentTo"} xref: NCIT:C133887 {source="MONDO:equivalentTo"} @@ -258782,12 +265355,14 @@ is_obsolete: true id: MONDO:0013002 name: cone-rod dystrophy 9 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15582"} synonym: "ADAM9 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 9" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612775] synonym: "cone-rod dystrophy caused by mutation in ADAM9" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 9" EXACT [DOID:0111020, MONDORULE:1, OMIM:612775] synonym: "CORD9" EXACT ABBREVIATION [DOID:0111020, MONDO:Lexical, OMIM:612775] xref: DOID:0111020 {source="MONDO:equivalentTo"} +xref: GARD:15582 {source="OMIM:612775"} xref: OMIM:612775 {source="MONDO:equivalentTo", source="DOID:0111020"} xref: UMLS:C1423873 {source="OMIM:612775", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy @@ -258802,9 +265377,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013003 name: isolated congenital hypoglossia/aglossia def: "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." [Orphanet:141152] +subset: gard_rare {source="GARD:16972"} subset: ordo_morphological_anomaly {source="Orphanet:141152"} synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776] synonym: "hypoglossia, isolated" RELATED [OMIM:612776] +xref: GARD:16972 {source="Orphanet:141152"} xref: ICD10CM:Q38.3 {source="Orphanet:141152/attributed", source="Orphanet:141152/ntbt", source="Orphanet:141152"} xref: OMIM:612776 {source="Orphanet:141152", source="MONDO:equivalentTo", source="Orphanet:141152/e"} xref: Orphanet:141152 {source="MONDO:equivalentTo", source="OMIM:612776"} @@ -258832,6 +265409,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013005 name: EAST syndrome def: "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." [Orphanet:199343] +subset: gard_rare {source="GARD:10514"} subset: ordo_disease {source="Orphanet:199343"} synonym: "EAST syndrome" EXACT [OMIM:612780] synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [DOID:0060484] @@ -258845,6 +265423,7 @@ synonym: "seizures-sensorineural deafness-ataxia-intellectual disability-electro synonym: "sesame syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343] synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] xref: DOID:0060484 {source="MONDO:equivalentTo"} +xref: GARD:10514 {source="Orphanet:199343"} xref: MESH:C557674 {source="DOID:0060484", source="MONDO:equivalentTo"} xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="MONDO:equivalentTo", source="Orphanet:199343/e"} xref: Orphanet:199343 {source="DOID:0060484", source="MONDO:equivalentTo", source="OMIM:612780"} @@ -258863,7 +265442,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013006 name: isolated growth hormone deficiency type IB def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." [DOID:0060874, PMID:10678654, PMID:8288694, PMID:8528260] -subset: gard_rare +subset: gard_rare {source="GARD:3919"} subset: ordo_clinical_subtype {source="Orphanet:231671"} synonym: "congenital IGHD type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "congenital isolated GH deficiency type IB" EXACT [DOID:0060874, Orphanet:231671] @@ -258877,6 +265456,7 @@ synonym: "isolated growth hormone deficiency type 1B" RELATED [GARD:0003919] synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781] synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781] xref: DOID:0060874 {source="MONDO:equivalentTo"} +xref: GARD:3919 {source="Orphanet:231671"} xref: ICD10CM:E23.0 {source="Orphanet:231671/attributed", source="Orphanet:231671/ntbt", source="Orphanet:231671", source="DOID:0060874"} xref: MESH:C567564 {source="MONDO:equivalentTo"} xref: OMIM:612781 {source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="Orphanet:231671/e", source="GARD:0003919"} @@ -258892,6 +265472,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3919/isolate id: MONDO:0013007 name: combined immunodeficiency due to ORAI1 deficiency def: "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." [Orphanet:317428] +subset: gard_rare {source="GARD:10524"} subset: ordo_clinical_subtype {source="Orphanet:317428"} synonym: "CID due to ORAI1 deficiency" EXACT [Orphanet:317428] synonym: "IMD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612782] @@ -258899,6 +265480,7 @@ synonym: "immune dysfunction with T-cell inactivation due to calcium entry defec synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782] synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782] xref: DOID:0111976 {source="MONDO:equivalentTo"} +xref: GARD:10524 {source="Orphanet:317428"} xref: ICD10CM:D81.8 {source="Orphanet:317428", source="Orphanet:317428/attributed", source="Orphanet:317428/ntbt"} xref: MESH:C557826 {source="MONDO:equivalentTo"} xref: OMIM:612782 {source="Orphanet:317428", source="MONDO:equivalentTo", source="Orphanet:317428/e"} @@ -258913,6 +265495,7 @@ property_value: confidence "8.333333333333336" xsd:double id: MONDO:0013008 name: combined immunodeficiency due to STIM1 deficiency def: "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." [Orphanet:317430] +subset: gard_rare {source="GARD:10523"} subset: ordo_clinical_subtype {source="Orphanet:317430"} synonym: "CID due to STIM1 deficiency" EXACT [Orphanet:317430] synonym: "IMD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612783] @@ -258921,6 +265504,7 @@ synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783] synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783] synonym: "STIM1 deficiency" RELATED [OMIM:612783] xref: DOID:0111970 {source="MONDO:equivalentTo"} +xref: GARD:10523 {source="Orphanet:317430"} xref: ICD10CM:D81.8 {source="Orphanet:317430/attributed", source="Orphanet:317430/ntbt", source="Orphanet:317430"} xref: MESH:C557827 {source="MONDO:equivalentTo"} xref: OMIM:612783 {source="Orphanet:317430/e", source="MONDO:equivalentTo", source="Orphanet:317430"} @@ -258934,7 +265518,6 @@ property_value: confidence "8.333333333333336" xsd:double [Term] id: MONDO:0013009 name: Megarbane-Jalkh syndrome -subset: gard_rare {source="GARD:0010689"} synonym: "developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure" RELATED [GARD:0010689] synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" RELATED [OMIM:612785] synonym: "Megarbane Jalkh syndrome" RELATED [GARD:0010689] @@ -258949,12 +265532,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10689/megarb id: MONDO:0013010 name: autosomal recessive nonsyndromic hearing loss 71 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." [DOID:0110522, PMID:19229252] +subset: gard_rare {source="GARD:22630"} synonym: "autosomal recessive deafness 71" NARROW [DOID:0110522] synonym: "autosomal recessive nonsyndromic deafness 71" NARROW [OMIM:612789] synonym: "autosomal recessive nonsyndromic deafness type 71" NARROW [DOID:0110522, MONDORULE:2] synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical, OMIM:612789, OMIM:genemap2] synonym: "DFNB71" NARROW ABBREVIATION [DOID:0110522, MONDO:Lexical, OMIM:612789] xref: DOID:0110522 {source="MONDO:equivalentTo"} +xref: GARD:22630 {source="OMIM:612789"} xref: ICD10CM:H90.3 {source="DOID:0110522"} xref: MESH:C567562 {source="MONDO:equivalentTo"} xref: OMIM:612789 {source="DOID:0110522", source="MONDO:equivalentTo"} @@ -259003,12 +265588,14 @@ is_a: MONDO:0005265 {source="DC-OMIM:612796", source="DOID:0110902", source="MES [Term] id: MONDO:0013013 name: question mark ears, isolated +subset: gard_rare {source="GARD:15583"} synonym: "auricular cleft, congenital" RELATED [OMIM:612798] synonym: "Cosman deformity of the auricle" RELATED [OMIM:612798] synonym: "ears, prominent and constricted" RELATED [OMIM:612798] synonym: "QME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612798] synonym: "question MARK ears, isolated" RELATED [OMIM:612798] synonym: "question mark ears, isolated" EXACT [MONDO:Lexical, OMIM:612798] +xref: GARD:15583 {source="OMIM:612798"} xref: OMIM:612798 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:612798"} xref: UMLS:C2748545 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612798"} @@ -259020,11 +265607,12 @@ property_value: confidence "3.066235547717029" xsd:double id: MONDO:0013014 name: spondyloepimetaphyseal dysplasia, aggrecan type def: "A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:171866] -subset: gard_rare {source="GARD:0010513"} +subset: gard_rare {source="GARD:10513"} subset: ordo_disease {source="Orphanet:171866"} synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866] synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813] synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813] +xref: GARD:10513 {source="Orphanet:171866"} xref: ICD10CM:Q77.7 {source="Orphanet:171866/attributed", source="Orphanet:171866/ntbt", source="Orphanet:171866"} xref: MESH:C567558 {source="MONDO:equivalentTo"} xref: OMIM:612813 {source="Orphanet:171866/e", source="MONDO:equivalentTo", source="Orphanet:171866"} @@ -259043,6 +265631,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10513/spondy id: MONDO:0013015 name: Brugada syndrome 5 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15584"} synonym: "BRGDA5" EXACT ABBREVIATION [DOID:0110222, MONDO:Lexical, OMIM:612838] synonym: "Brugada syndrome 5" EXACT [MONDO:Lexical, OMIM:612838] synonym: "Brugada syndrome caused by mutation in SCN1B" EXACT [MONDO:design_pattern] @@ -259050,6 +265639,7 @@ synonym: "Brugada syndrome type 5" EXACT [DOID:0110222, MONDORULE:1, OMIM:612838 synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:612838] synonym: "SCN1B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110222 {source="MONDO:equivalentTo"} +xref: GARD:15584 {source="OMIM:612838"} xref: ICD10CM:I49.8 {source="DOID:0110222"} xref: OMIM:612838 {source="MONDO:equivalentTo", source="DOID:0110222"} xref: Orphanet:130 {source="OMIM:612838"} @@ -259065,6 +265655,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013016 name: leukocyte adhesion deficiency 3 def: "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." [Orphanet:99844] +subset: gard_rare {source="GARD:16915"} subset: ordo_clinical_subtype {source="Orphanet:99844"} synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IADD" EXACT ABBREVIATION [DOID:0110912] @@ -259084,6 +265675,7 @@ synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840] synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844] xref: DOID:0110912 {source="MONDO:equivalentTo"} +xref: GARD:16915 {source="Orphanet:99844"} xref: ICD10CM:D84.8 {source="Orphanet:99844/attributed", source="Orphanet:99844/ntbt", source="Orphanet:99844"} xref: MESH:C567555 {source="MONDO:equivalentTo"} xref: OMIM:612840 {source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo", source="Orphanet:99844/e"} @@ -259102,6 +265694,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013017 name: hypotrichosis 5 def: "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3." [DOID:0110702, PMID:16185270] +subset: gard_rare {source="GARD:15585"} synonym: "hypotrichosis 5" EXACT [MONDO:Lexical, OMIM:612841] synonym: "hypotrichosis type 5" EXACT [DOID:0110702, MONDORULE:1] synonym: "HYPT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612841] @@ -259109,6 +265702,7 @@ synonym: "hypt5" EXACT [DOID:0110702] synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [DOID:0110702, OMIM:612841] synonym: "Muhh2" EXACT [DOID:0110702] xref: DOID:0110702 {source="MONDO:equivalentTo"} +xref: GARD:15585 {source="OMIM:612841"} xref: MESH:C567554 {source="MONDO:equivalentTo"} xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"} xref: Orphanet:444 {source="OMIM:612841"} @@ -259122,10 +265716,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013018 name: keratosis follicularis spinulosa decalvans, autosomal dominant +subset: gard_rare {source="GARD:15586"} synonym: "keratosis follicularis SPINULOSA decalvans, autosomal dominant" RELATED [OMIM:612843] synonym: "keratosis follicularis spinulosa decalvans, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612843] synonym: "KFSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612843] xref: DOID:0080755 {source="MONDO:equivalentTo"} +xref: GARD:15586 {source="OMIM:612843"} xref: MESH:C567553 {source="MONDO:equivalentTo"} xref: OMIM:612843 {source="MONDO:equivalentTo"} xref: Orphanet:2340 {source="OMIM:612843"} @@ -259142,10 +265738,12 @@ replaced_by: MONDO:0019666 [Term] id: MONDO:0013020 name: narcolepsy 5, susceptibility to +subset: gard_rare {source="GARD:15587"} subset: predisposition synonym: "narcolepsy 5" RELATED [OMIM:612851, OMIM:genemap2] synonym: "narcolepsy 5, susceptibility to" EXACT [OMIM:612851] synonym: "NRCLP5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612851] +xref: GARD:15587 {source="OMIM:612851"} xref: OMIM:612851 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:612851"} xref: UMLS:C2748508 {source="OMIM:612851", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -259158,6 +265756,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013021 name: sterile multifocal osteomyelitis with periostitis and pustulosis def: "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." [NCIT:C119056] +subset: gard_rare {source="GARD:10516"} subset: ordo_disease {source="Orphanet:210115"} synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] synonym: "deficiency of interleukin-1 receptor antagonist" RELATED [GARD:0010516] @@ -259167,6 +265766,7 @@ synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [OMIM:612852] synonym: "Interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] synonym: "OMPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612852, Orphanet:210115] synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical, OMIM:612852] +xref: GARD:10516 {source="Orphanet:210115"} xref: MESH:C557815 {source="MONDO:equivalentTo"} xref: NCIT:C119056 {source="MONDO:equivalentTo"} xref: OMIM:612852 {source="MONDO:equivalentTo", source="Orphanet:210115", source="Orphanet:210115/e"} @@ -259213,11 +265813,12 @@ property_value: confidence "1.7876687750502525" xsd:double id: MONDO:0013024 name: chronic thromboembolic pulmonary hypertension def: "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." [Orphanet:70591] -subset: gard_rare {source="GARD:0013124"} +subset: gard_rare {source="GARD:13124"} subset: ordo_disease {source="Orphanet:70591"} synonym: "CTEPH" EXACT ABBREVIATION [Orphanet:70591] synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862] synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862] +xref: GARD:13124 {source="Orphanet:70591"} xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068739 {source="Orphanet:70591", source="Orphanet:70591/e"} @@ -259235,6 +265836,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13124/chroni id: MONDO:0013025 name: chromosome 6q24-q25 deletion syndrome def: "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." [Orphanet:251056] +subset: gard_rare {source="GARD:3764"} subset: ordo_malformation_syndrome {source="Orphanet:251056"} synonym: "6q25 microdeletion syndrome" EXACT [DOID:0060424] synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [OMIM:612863] @@ -259245,6 +265847,7 @@ synonym: "del(6q25)" RELATED [NCIT:C36470] synonym: "deletion 6q25" RELATED [GARD:0003764] synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056] xref: DOID:0060424 {source="MONDO:equivalentTo"} +xref: GARD:3764 {source="Orphanet:251056"} xref: ICD10CM:Q93.5 {source="Orphanet:251056/attributed", source="Orphanet:251056/ntbt", source="Orphanet:251056"} xref: NCIT:C36470 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: OMIM:612863 {source="Orphanet:251056", source="DOID:0060424", source="MONDO:equivalentTo", source="Orphanet:251056/e"} @@ -259265,11 +265868,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013026 name: subepithelial mucinous corneal dystrophy def: "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." [Orphanet:98959] +subset: gard_rare {source="GARD:16878"} subset: ordo_disease {source="Orphanet:98959"} synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMIM:612867] synonym: "SMCD" EXACT ABBREVIATION [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959] synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867] xref: DOID:0060454 {source="MONDO:equivalentTo"} +xref: GARD:16878 {source="Orphanet:98959"} xref: ICD10CM:H18.5 {source="DOID:0060454", source="Orphanet:98959/attributed", source="Orphanet:98959/ntbt", source="Orphanet:98959"} xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo"} xref: OMIM:612867 {source="Orphanet:98959/e", source="DOID:0060454", source="MONDO:equivalentTo", source="Orphanet:98959"} @@ -259284,6 +265889,7 @@ property_value: confidence "22.611111111111118" xsd:double id: MONDO:0013027 name: posterior amorphous corneal dystrophy def: "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." [Orphanet:98971] +subset: gard_rare {source="GARD:16880"} subset: ordo_disease {source="Orphanet:98971"} synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [OMIM:612868] synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical, OMIM:612868] @@ -259291,6 +265897,7 @@ synonym: "PACD" EXACT ABBREVIATION [DOID:0060452, MONDO:Lexical, OMIM:612868, Or synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868] synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971] xref: DOID:0060452 {source="MONDO:equivalentTo"} +xref: GARD:16880 {source="Orphanet:98971"} xref: ICD10CM:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="Orphanet:98971/attributed", source="Orphanet:98971/ntbt"} xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo"} xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="Orphanet:98971/e"} @@ -259304,9 +265911,11 @@ property_value: confidence "22.611111111111118" xsd:double id: MONDO:0013028 name: adenosine monophosphate deaminase deficiency def: "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue." [Orphanet:45] +subset: gard_rare {source="GARD:547"} subset: ordo_disease {source="Orphanet:45"} synonym: "AMP deaminase deficiency" EXACT [Orphanet:45] synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45] +xref: GARD:547 {source="Orphanet:45"} xref: ICD10CM:G71.3 {source="Orphanet:45", source="Orphanet:45/attributed", source="Orphanet:45/ntbt"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538234 {source="Orphanet:45", source="MONDO:equivalentTo", source="Orphanet:45/e"} @@ -259334,6 +265943,7 @@ is_a: MONDO:0020380 {source="DC-OMIM:612876", source="OMIM:612876"} ! autosomal id: MONDO:0013030 name: dilated cardiomyopathy 1BB def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15588"} synonym: "cardiomyopathy, dilated, 1BB" RELATED [MONDO:Lexical, OMIM:612877] synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9, OMIM:612877] synonym: "CMD1BB" EXACT ABBREVIATION [DOID:0110458, MONDO:Lexical, OMIM:612877] @@ -259341,6 +265951,7 @@ synonym: "dilated cardiomyopathy type 1BB" EXACT [DOID:0110458, MONDORULE:9] synonym: "DSG2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial isolated dilated cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern] xref: DOID:0110458 {source="MONDO:equivalentTo"} +xref: GARD:15588 {source="OMIM:612877"} xref: ICD10CM:I42.0 {source="DOID:0110458"} xref: MESH:C567877 {source="MONDO:equivalentTo"} xref: OMIM:612877 {source="DOID:0110458", source="MONDO:equivalentTo"} @@ -259352,9 +265963,11 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0013031 name: chromosome 5Q14.3 deletion syndrome, distal +subset: gard_rare {source="GARD:15589"} synonym: "chromosome 5Q14.3 deletion syndrome, distal" EXACT [OMIM:612881] synonym: "heterotopia, periventricular, associated with chromosome 5Q deletion" RELATED [OMIM:612881] synonym: "periventricular nodular heterotopia 5" RELATED [OMIM:612881] +xref: GARD:15589 {source="OMIM:612881"} xref: MESH:C567876 {source="MONDO:equivalentTo"} xref: OMIM:612881 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:612881"} @@ -259394,12 +266007,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013033 name: cerebral palsy, spastic quadriplegic, 2 def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18309"} synonym: "cerebral palsy, spastic quadriplegic, 2" EXACT [MONDO:Lexical, OMIM:612900] synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1, OMIM:612900] synonym: "CPSQ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612900] synonym: "KANK1 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic quadriplegia caused by mutation in KANK1" EXACT [MONDO:design_pattern] xref: DOID:0081360 {source="MONDO:equivalentTo"} +xref: GARD:18309 {source="OMIM:612900"} xref: MESH:C567867 {source="MONDO:equivalentTo"} xref: OMIM:612900 {source="MONDO:equivalentTo"} xref: Orphanet:210141 {source="OMIM:612900"} @@ -259416,6 +266031,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013034 name: keratosis palmoplantaris striata 2 def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15590"} synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908] synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908] @@ -259424,6 +266040,7 @@ synonym: "PPKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612908] synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908] synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern] xref: DOID:0081109 {source="MONDO:equivalentTo"} +xref: GARD:15590 {source="OMIM:612908"} xref: MESH:C565102 {source="MONDO:equivalentTo"} xref: OMIM:612908 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="OMIM:612908"} @@ -259438,7 +266055,7 @@ property_value: confidence "2.888888888888888" xsd:double id: MONDO:0013035 name: orofaciodigital syndrome XI def: "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." [Orphanet:141000] -subset: gard_rare {source="GARD:0004118"} +subset: gard_rare {source="GARD:4118"} subset: ordo_malformation_syndrome {source="Orphanet:141000"} synonym: "Gabrielli syndrome" RELATED [OMIM:612913] synonym: "OFD syndrome 11" RELATED [GARD:0004118] @@ -259456,6 +266073,7 @@ synonym: "orofaciodigital syndrome type XI" EXACT [DOID:0060381, MONDORULE:3] synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913] synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000] xref: DOID:0060381 {source="MONDO:equivalentTo"} +xref: GARD:4118 {source="Orphanet:141000"} xref: ICD10CM:Q87.0 {source="Orphanet:141000/attributed", source="Orphanet:141000/ntbt", source="Orphanet:141000"} xref: MESH:C557821 {source="MONDO:equivalentTo", source="DOID:0060381"} xref: OMIM:612913 {source="Orphanet:141000", source="MONDO:equivalentTo", source="Orphanet:141000/e", source="DOID:0060381"} @@ -259469,13 +266087,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4118/orofaci [Term] id: MONDO:0013036 name: Zechi-Ceide syndrome -subset: gard_rare {source="GARD:0010582"} +subset: gard_rare {source="GARD:10582"} subset: ordo_malformation_syndrome {source="Orphanet:217017"} synonym: "occipital atretic cephalocele, unusual facies and large feet" RELATED [GARD:0010582] synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [OMIM:612916] synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXACT [Orphanet:217017] synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582] synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916] +xref: GARD:10582 {source="Orphanet:217017"} xref: ICD10CM:Q87.8 {source="Orphanet:217017", source="Orphanet:217017/attributed", source="Orphanet:217017/ntbt"} xref: MESH:C567865 {source="MONDO:equivalentTo"} xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="Orphanet:217017/e"} @@ -259502,6 +266121,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013038 name: CLOVES syndrome def: "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." [https://orcid.org/0000-0001-5208-3432, Orphanet:140944] +subset: gard_rare {source="GARD:10939"} subset: ordo_malformation_syndrome {source="Orphanet:140944"} synonym: "CLOVE syndrome" RELATED [OMIM:612918] synonym: "CLOVE syndrome, somatic" EXACT [OMIM:612918, OMIM:genemap2] @@ -259513,6 +266133,7 @@ synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal ne synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" EXACT [Orphanet:140944] synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" EXACT [Orphanet:140944] xref: DOID:0080351 {source="MONDO:equivalentTo"} +xref: GARD:10939 {source="Orphanet:140944"} xref: ICD10CM:Q87.3 {source="DOID:0080351", source="Orphanet:140944/attributed", source="Orphanet:140944/ntbt", source="Orphanet:140944"} xref: MESH:C567863 {source="MONDO:equivalentTo"} xref: OMIM:612918 {source="DOID:0080351", source="Orphanet:140944/e", source="MONDO:equivalentTo", source="Orphanet:140944"} @@ -259533,6 +266154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013039 name: 3M syndrome 2 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15591"} synonym: "3-M syndrome 2" EXACT [OMIM:612921, OMIM:genemap2] synonym: "3-M syndrome caused by mutation in OBSL1" EXACT [MONDO:design_pattern] synonym: "3M syndrome 2" EXACT CLINGEN_PREFERRED [OMIM:612921] @@ -259540,6 +266162,7 @@ synonym: "3M2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612921] synonym: "OBSL1 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "three M syndrome 2" EXACT [MONDO:Lexical, OMIM:612921] synonym: "three M syndrome type 2" EXACT [MONDORULE:1, OMIM:612921] +xref: GARD:15591 {source="OMIM:612921"} xref: MESH:C567862 {source="MONDO:equivalentTo"} xref: OMIM:612921 {source="MONDO:equivalentTo"} xref: Orphanet:2616 {source="OMIM:612921"} @@ -259557,6 +266180,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013040 name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +subset: gard_rare {source="GARD:18552"} subset: ordo_etiological_subtype {source="Orphanet:93576"} subset: predisposition synonym: "aHUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] @@ -259570,6 +266194,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922] +xref: GARD:18552 {source="OMIM:612922"} xref: ICD10CM:D58.8 {source="Orphanet:93576", source="Orphanet:93576/attributed", source="Orphanet:93576/ntbt"} xref: OMIM:612922 {source="MONDO:equivalentTo", source="Orphanet:93576", source="Orphanet:93576/e"} xref: Orphanet:2134 {source="OMIM:612922"} @@ -259584,6 +266209,7 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0013041 name: atypical hemolytic-uremic syndrome with I factor anomaly +subset: gard_rare {source="GARD:18553"} subset: ordo_etiological_subtype {source="Orphanet:93580"} subset: predisposition synonym: "aHUS with I factor anomaly" EXACT [Orphanet:93580] @@ -259597,6 +266223,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580] synonym: "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923] +xref: GARD:18553 {source="OMIM:612923"} xref: ICD10CM:D58.8 {source="Orphanet:93580/attributed", source="Orphanet:93580/ntbt", source="Orphanet:93580"} xref: OMIM:612923 {source="Orphanet:93580/e", source="MONDO:equivalentTo", source="Orphanet:93580"} xref: Orphanet:2134 {source="OMIM:612923"} @@ -259611,6 +266238,7 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0013042 name: atypical hemolytic-uremic syndrome with B factor anomaly +subset: gard_rare {source="GARD:18554"} subset: ordo_etiological_subtype {source="Orphanet:93578"} subset: predisposition synonym: "aHUS with B factor anomaly" EXACT [Orphanet:93578] @@ -259624,6 +266252,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578] synonym: "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924] +xref: GARD:18554 {source="OMIM:612924"} xref: ICD10CM:D58.8 {source="Orphanet:93578", source="Orphanet:93578/attributed", source="Orphanet:93578/ntbt"} xref: OMIM:612924 {source="MONDO:equivalentTo", source="Orphanet:93578", source="Orphanet:93578/e"} xref: Orphanet:2134 {source="OMIM:612924"} @@ -259637,6 +266266,7 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0013043 name: atypical hemolytic-uremic syndrome with C3 anomaly +subset: gard_rare {source="GARD:18555"} subset: ordo_etiological_subtype {source="Orphanet:93575"} subset: predisposition synonym: "aHUS with C3 anomaly" EXACT [Orphanet:93575] @@ -259649,6 +266279,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575] synonym: "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925] +xref: GARD:18555 {source="OMIM:612925"} xref: ICD10CM:D58.8 {source="Orphanet:93575/attributed", source="Orphanet:93575/ntbt", source="Orphanet:93575"} xref: OMIM:612925 {source="Orphanet:93575", source="MONDO:equivalentTo", source="Orphanet:93575/e"} xref: Orphanet:2134 {source="OMIM:612925"} @@ -259663,6 +266294,7 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0013044 name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly +subset: gard_rare {source="GARD:18556"} subset: ordo_etiological_subtype {source="Orphanet:217023"} subset: predisposition synonym: "aHUS with thrombomodulin anomaly" EXACT [Orphanet:217023] @@ -259675,6 +266307,7 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926] +xref: GARD:18556 {source="OMIM:612926"} xref: ICD10CM:D58.8 {source="Orphanet:217023", source="Orphanet:217023/attributed", source="Orphanet:217023/ntbt"} xref: OMIM:612926 {source="Orphanet:217023/e", source="MONDO:equivalentTo", source="Orphanet:217023"} xref: Orphanet:2134 {source="OMIM:612926"} @@ -259700,6 +266333,7 @@ is_a: MONDO:0000070 {source="DC-OMIM:612929"} ! mycobacterium tuberculosis, susc id: MONDO:0013046 name: glycogen storage disease due to muscle beta-enolase deficiency def: "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." [Orphanet:99849] +subset: gard_rare {source="GARD:2125"} subset: ordo_disease {source="Orphanet:99849"} synonym: "enolase 3 deficiency" RELATED [OMIM:612932] synonym: "enolase-Beta deficiency" RELATED [OMIM:612932] @@ -259715,6 +266349,7 @@ synonym: "GSD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612932] synonym: "GSDXIII" EXACT ABBREVIATION [Orphanet:99849] synonym: "muscle enolase deficiency" EXACT [Orphanet:99849] synonym: "muscular enolase deficiency" EXACT [Orphanet:99849] +xref: GARD:2125 {source="Orphanet:99849"} xref: ICD10CM:E74.0 {source="Orphanet:99849", source="Orphanet:99849/attributed", source="Orphanet:99849/ntbt"} xref: MESH:C567861 {source="MONDO:equivalentTo"} xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"} @@ -259731,7 +266366,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013047 name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." [GARD:0003160] -subset: gard_rare +subset: gard_rare {source="GARD:3160"} subset: ordo_clinical_subtype {source="Orphanet:284426"} synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426] @@ -259747,6 +266382,7 @@ synonym: "lactate dehydrogenase A deficiency" EXACT [MESH:C538133, OMIM:612933, synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160] synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426] synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:3160 {source="Orphanet:284426"} xref: HGNC:6535 {source="GARD:0003160"} xref: ICD10CM:E74.0 {source="Orphanet:284426/attributed", source="Orphanet:284426/ntbt", source="Orphanet:284426"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -259772,6 +266408,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3160/lactate id: MONDO:0013048 name: hereditary spastic paraplegia 50 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15592"} synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802] synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936] @@ -259782,6 +266419,7 @@ synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE: synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936] synonym: "SPG50" EXACT ABBREVIATION [DOID:0110802, MONDO:Lexical, OMIM:612936] xref: DOID:0110802 {source="MONDO:equivalentTo"} +xref: GARD:15592 {source="OMIM:612936"} xref: MESH:C567858 {source="MONDO:equivalentTo"} xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="DOID:0110802", source="OMIM:612936"} @@ -259796,6 +266434,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013049 name: DPM3-congenital disorder of glycosylation def: "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." [Orphanet:263494] +subset: gard_rare {source="GARD:12395"} subset: ordo_disease {source="Orphanet:263494"} synonym: "carbohydrate deficient glycoprotein syndrome type Io" EXACT [Orphanet:263494] synonym: "CDG Io" RELATED [OMIM:612937] @@ -259812,6 +266451,7 @@ synonym: "DPM3-CDG" EXACT ABBREVIATION [Orphanet:263494] synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395] synonym: "DPM3-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937, OMIM:genemap2] +xref: GARD:12395 {source="Orphanet:263494"} xref: ICD10CM:E77.8 {source="Orphanet:263494/attributed", source="Orphanet:263494/ntbt", source="Orphanet:263494"} xref: MESH:C567857 {source="MONDO:equivalentTo"} xref: OMIM:612937 {source="Orphanet:263494", source="MONDO:equivalentTo", source="Orphanet:263494/e"} @@ -259831,10 +266471,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013050 name: lethal polymalformative syndrome, Boissel type +subset: gard_rare {source="GARD:17110"} subset: ordo_malformation_syndrome {source="Orphanet:210144"} synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [OMIM:612938, OMIM:genemap2] +xref: GARD:17110 {source="Orphanet:210144"} xref: ICD10CM:Q87.8 {source="Orphanet:210144/attributed", source="Orphanet:210144/ntbt", source="Orphanet:210144"} xref: MESH:C567856 {source="MONDO:equivalentTo"} xref: OMIM:612938 {source="Orphanet:210144", source="MONDO:equivalentTo", source="Orphanet:210144/e"} @@ -259851,7 +266493,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013051 name: autosomal recessive cutis laxa type 2B def: "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." [Orphanet:357064] -subset: gard_rare {source="GARD:0001641"} +subset: gard_rare {source="GARD:1641"} subset: ordo_disease {source="Orphanet:357064"} synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064] synonym: "ARCL2B" EXACT ABBREVIATION [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064] @@ -259865,6 +266507,7 @@ synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940] synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940] synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070137 {source="MONDO:equivalentTo"} +xref: GARD:1641 {source="Orphanet:357064"} xref: ICD10CM:Q82.8 {source="DOID:0070137", source="Orphanet:357064", source="Orphanet:357064/attributed", source="Orphanet:357064/ntbt"} xref: MESH:C567855 {source="MONDO:equivalentTo"} xref: OMIM:612940 {source="Orphanet:357064/e", source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064"} @@ -259884,12 +266527,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1641/cutis-l id: MONDO:0013052 name: retinitis pigmentosa 42 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15593"} synonym: "KLHL7 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 42" EXACT [MONDO:Lexical, OMIM:612943] synonym: "retinitis pigmentosa caused by mutation in KLHL7" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 42" EXACT [DOID:0110386, MONDORULE:2, OMIM:612943] synonym: "RP42" EXACT ABBREVIATION [DOID:0110386, MONDO:Lexical, OMIM:612943] xref: DOID:0110386 {source="MONDO:equivalentTo"} +xref: GARD:15593 {source="OMIM:612943"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110386"} xref: MESH:C567854 {source="MONDO:equivalentTo"} xref: OMIM:612943 {source="MONDO:equivalentTo", source="DOID:0110386"} @@ -259903,9 +266548,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013053 name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type def: "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." [Orphanet:217026] +subset: gard_rare {source="GARD:17116"} subset: ordo_malformation_syndrome {source="Orphanet:217026"} synonym: "Hadziselimovic syndrome" EXACT [OMIM:612946, Orphanet:217026] synonym: "microcephaly-faciocardioskeletal syndrome" EXACT [OMIM:612946, Orphanet:217026] +xref: GARD:17116 {source="Orphanet:217026"} xref: ICD10CM:Q87.8 {source="Orphanet:217026/attributed", source="Orphanet:217026/ntbt", source="Orphanet:217026"} xref: MESH:C567850 {source="MONDO:equivalentTo"} xref: OMIM:612946 {source="Orphanet:217026/e", source="MONDO:equivalentTo", source="Orphanet:217026"} @@ -259930,7 +266577,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0013055 name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features -subset: gard_rare {source="GARD:0010683"} synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features" RELATED [GARD:0010683] synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features" RELATED DEPRECATED [GARD:0010683] synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" EXACT [OMIM:612948] @@ -259945,6 +266591,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10683/starga id: MONDO:0013056 name: developmental and epileptic encephalopathy, 39 def: "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." [Orphanet:353217] +subset: gard_rare {source="GARD:17532"} subset: ordo_disease {source="Orphanet:353217"} synonym: "AGC1 deficiency" EXACT [DOID:0080349] synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [OMIM:612949] @@ -259958,6 +266605,7 @@ synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949] synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217] synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080349 {source="MONDO:equivalentTo"} +xref: GARD:17532 {source="Orphanet:353217"} xref: ICD10CM:G31.8 {source="Orphanet:353217", source="Orphanet:353217/attributed", source="Orphanet:353217/ntbt"} xref: MESH:C567847 {source="MONDO:equivalentTo"} xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="DOID:0080349", source="Orphanet:353217/e"} @@ -259994,11 +266642,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013058 name: cystic leukoencephalopathy without megalencephaly def: "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." [Orphanet:85136] +subset: gard_rare {source="GARD:13199"} subset: ordo_disease {source="Orphanet:85136"} synonym: "CLWM" EXACT ABBREVIATION [Orphanet:85136] synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951] synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199] xref: DOID:0081007 {source="MONDO:equivalentTo"} +xref: GARD:13199 {source="Orphanet:85136"} xref: ICD10CM:E75.2 {source="Orphanet:85136", source="Orphanet:85136/attributed", source="Orphanet:85136/ntbt"} xref: MESH:C567845 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} @@ -260013,12 +266663,14 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0013059 name: Aicardi-Goutieres syndrome 5 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10151"} synonym: "AGS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612952] synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, OMIM:612952] synonym: "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1, OMIM:612952] synonym: "SAMHD1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SAMHD1-related Aicardi-Goutieres syndrome" RELATED [GARD:0010151] +xref: GARD:10151 {source="OMIM:612952"} xref: MESH:C535608 {source="MONDO:equivalentTo"} xref: NCIT:C168564 {source="MONDO:equivalentTo"} xref: OMIM:612952 {source="MONDO:equivalentTo"} @@ -260035,6 +266687,7 @@ property_value: confidence "0.5" xsd:double id: MONDO:0013060 name: autosomal recessive Parkinson disease 14 def: "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." [Orphanet:199351] +subset: gard_rare {source="GARD:12568"} subset: ordo_disease {source="Orphanet:199351"} synonym: "adult-onset dystonia - parkinsonism" RELATED [Orphanet:199351] synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MONDORULE:2] @@ -260048,6 +266701,7 @@ synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMI synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351] xref: DOID:0060900 {source="MONDO:equivalentTo"} +xref: GARD:12568 {source="Orphanet:199351"} xref: ICD10CM:G24.1 {source="Orphanet:199351", source="Orphanet:199351/attributed", source="Orphanet:199351/ntbt"} xref: MESH:C567844 {source="MONDO:equivalentTo"} xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="Orphanet:199351/e", source="DOID:0060900"} @@ -260068,6 +266722,7 @@ property_value: confidence "3.2857142857142847" xsd:double id: MONDO:0013061 name: myofibrillar myopathy 6 def: "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." [Orphanet:199340] +subset: gard_rare {source="GARD:17096"} subset: ordo_disease {source="Orphanet:199340"} synonym: "BAG3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "BAG3-related myofibrillar myopathy" RELATED [DOID:0080097] @@ -260080,6 +266735,7 @@ synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954] synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954] synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954] xref: DOID:0080097 {source="MONDO:equivalentTo"} +xref: GARD:17096 {source="Orphanet:199340"} xref: ICD10CM:G71.8 {source="Orphanet:199340", source="Orphanet:199340/attributed", source="Orphanet:199340/ntbt"} xref: MESH:C567843 {source="MONDO:equivalentTo"} xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="Orphanet:199340/e"} @@ -260096,12 +266752,14 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0013062 name: long QT syndrome 12 def: "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15595"} synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955] synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955] synonym: "LQT12" EXACT ABBREVIATION [DOID:0110653, MONDO:Lexical, OMIM:612955] synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110653 {source="MONDO:equivalentTo"} +xref: GARD:15595 {source="OMIM:612955"} xref: ICD10CM:I45.8 {source="DOID:0110653"} xref: MESH:C567842 {source="MONDO:equivalentTo"} xref: OMIM:612955 {source="MONDO:equivalentTo", source="DOID:0110653"} @@ -260119,11 +266777,13 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0013063 name: ventricular fibrillation, paroxysmal familial, 2 def: "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15596"} synonym: "DPP6 ventricular fibrillation (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular fibrillation (disease) caused by mutation in DPP6" EXACT [] synonym: "ventricular fibrillation, paroxysmal familial, 2" EXACT [MONDO:Lexical, OMIM:612956] synonym: "ventricular fibrillation, paroxysmal familial, type 2" EXACT [MONDORULE:1, OMIM:612956] synonym: "VF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612956] +xref: GARD:15596 {source="OMIM:612956"} xref: MESH:C567841 {source="MONDO:equivalentTo"} xref: OMIM:612956 {source="MONDO:equivalentTo"} xref: Orphanet:228140 {source="OMIM:612956"} @@ -260138,12 +266798,14 @@ property_value: confidence "1.6470588235294117" xsd:double id: MONDO:0013064 name: multiple synostoses syndrome 3 def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15597"} synonym: "FGF9 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple synostoses syndrome 3" EXACT [MONDO:Lexical, OMIM:612961] synonym: "multiple synostoses syndrome caused by mutation in FGF9" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1, OMIM:612961] synonym: "SYNS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612961] xref: DOID:0081319 {source="MONDO:equivalentTo"} +xref: GARD:15597 {source="OMIM:612961"} xref: MESH:C567839 {source="MONDO:equivalentTo"} xref: OMIM:612961 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:612961"} @@ -260182,6 +266844,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013066 name: 46,XY sex reversal 3 +subset: gard_rare {source="GARD:15598"} synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" RELATED [OMIM:612965] synonym: "46,XY SEX reversal 3" RELATED [OMIM:612965] synonym: "46,XY sex reversal 3" EXACT [MONDO:Lexical, OMIM:612965] @@ -260192,6 +266855,7 @@ synonym: "disorder of Sex development, 46,XY, Nr5A1-related" RELATED [OMIM:61296 synonym: "Sex reversal, XY, with or without adrenal failure" RELATED [OMIM:612965] synonym: "SRXY3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612965] xref: DOID:0111772 {source="MONDO:equivalentTo"} +xref: GARD:15598 {source="OMIM:612965"} xref: OMIM:612965 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:612965"} xref: Orphanet:251510 {source="OMIM:612965"} @@ -260206,6 +266870,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013067 name: cataract 34 multiple types def: "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15599"} synonym: "autosomal recessive congenital cataract 3" EXACT [DOID:0110230] synonym: "cataract (disease) caused by mutation in FOXE3" EXACT [] synonym: "cataract 34 multiple types with or without microcornea" EXACT [DOID:0110230] @@ -260216,6 +266881,7 @@ synonym: "CATC3" EXACT ABBREVIATION [DOID:0110230] synonym: "CTRCT34" EXACT ABBREVIATION [DOID:0110230, MONDO:Lexical, OMIM:612968] synonym: "FOXE3 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110230 {source="MONDO:equivalentTo"} +xref: GARD:15599 {source="OMIM:612968"} xref: ICD10CM:Q12.0 {source="DOID:0110230"} xref: MESH:C567835 {source="MONDO:equivalentTo"} xref: OMIM:612968 {source="MONDO:equivalentTo", source="DOID:0110230"} @@ -260243,11 +266909,13 @@ is_a: MONDO:0005562 {source="DC-OMIM:612976"} ! age-related hearing impairment [Term] id: MONDO:0013069 name: autosomal recessive optic atrophy, OPA7 type +subset: gard_rare {source="GARD:17143"} subset: ordo_clinical_subtype {source="Orphanet:227976"} synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989] synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2] synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989] xref: DOID:0111437 {source="MONDO:equivalentTo"} +xref: GARD:17143 {source="Orphanet:227976"} xref: ICD10CM:H47.2 {source="Orphanet:227976", source="Orphanet:227976/attributed", source="Orphanet:227976/ntbt"} xref: MESH:C567833 {source="MONDO:equivalentTo"} xref: OMIM:612989 {source="Orphanet:227976", source="MONDO:equivalentTo", source="Orphanet:227976/e"} @@ -260262,11 +266930,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013070 name: spermatogenic failure 7 +subset: gard_rare {source="GARD:18400"} synonym: "Male infertility, nonsyndromic, autosomal recessive" RELATED [OMIM:612997] synonym: "spermatogenic failure 7" EXACT [MONDO:Lexical, OMIM:612997] synonym: "spermatogenic failure type 7" EXACT [MONDORULE:1, OMIM:612997] synonym: "SPGF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612997] xref: DOID:0070173 {source="MONDO:equivalentTo"} +xref: GARD:18400 {source="OMIM:612997"} xref: MESH:C567832 {source="MONDO:equivalentTo"} xref: OMIM:612997 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:612997"} @@ -260278,6 +266948,7 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0013071 name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18206"} synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" EXACT [MONDO:design_pattern] synonym: "EDMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612998] synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [OMIM:612998] @@ -260285,6 +266956,7 @@ synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant" RELATED [OMIM synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612998] synonym: "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070249 {source="MONDO:equivalentTo"} +xref: GARD:18206 {source="OMIM:612998"} xref: MESH:C567831 {source="MONDO:equivalentTo"} xref: OMIM:612998 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:612998"} @@ -260301,12 +266973,14 @@ property_value: confidence "0.16640000000000033" xsd:double id: MONDO:0013072 name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18207"} synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2" EXACT [MONDO:design_pattern] synonym: "EDMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612999] synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant" RELATED [OMIM:612999] synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612999] synonym: "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070250 {source="MONDO:equivalentTo"} +xref: GARD:18207 {source="OMIM:612999"} xref: OMIM:612999 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:612999"} xref: Orphanet:98853 {source="OMIM:612999"} @@ -260322,6 +266996,7 @@ property_value: confidence "0.16640000000000033" xsd:double id: MONDO:0013073 name: palmoplantar keratoderma, nonepidermolytic, focal 1 def: "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18487"} synonym: "FNEPPK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613000] synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:613000] synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [OMIM:613000] @@ -260332,6 +267007,7 @@ synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1" EXACT [MONDO:Lexi synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1, OMIM:613000] synonym: "Ppkfne" RELATED [OMIM:613000] xref: DOID:0111709 {source="MONDO:equivalentTo"} +xref: GARD:18487 {source="OMIM:613000"} xref: OMIM:613000 {source="MONDO:equivalentTo"} xref: UMLS:C2751804 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931923 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613000"} @@ -260349,13 +267025,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013074 name: encephalocraniocutaneous lipomatosis def: "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." [NCIT:P378] -subset: gard_rare {source="GARD:0002108"} +subset: gard_rare {source="GARD:2108"} subset: ordo_disease {source="Orphanet:2396"} synonym: "ECCL" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4701, OMIM:613001] synonym: "encephalocraniocutaneous lipomatosis" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001] synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [OMIM:613001, OMIM:genemap2] synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701] synonym: "Haberland syndrome" EXACT [Orphanet:2396] +xref: GARD:2108 {source="Orphanet:2396"} xref: ICD10CM:E88.2 {source="Orphanet:2396", source="Orphanet:2396/attributed", source="Orphanet:2396/ntbt"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} @@ -260439,9 +267116,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013079 name: primary biliary cholangitis 2 +subset: gard_rare {source="GARD:15601"} synonym: "biliary cirrhosis, primary, 2" RELATED [MONDO:Lexical, OMIM:613007] synonym: "PBC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613007] xref: DOID:0070359 {source="MONDO:equivalentTo"} +xref: GARD:15601 {source="OMIM:613007"} xref: MESH:C567817 {source="MONDO:equivalentTo"} xref: OMIM:613007 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613007"} @@ -260452,9 +267131,11 @@ property_value: confidence "3.0" xsd:double [Term] id: MONDO:0013080 name: primary biliary cholangitis 3 +subset: gard_rare {source="GARD:15602"} synonym: "biliary cirrhosis, primary, 3" RELATED [MONDO:Lexical, OMIM:613008] synonym: "PBC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613008] xref: DOID:0070360 {source="MONDO:equivalentTo"} +xref: GARD:15602 {source="OMIM:613008"} xref: MESH:C567816 {source="MONDO:equivalentTo"} xref: OMIM:613008 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613008"} @@ -260466,6 +267147,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0013081 name: lymphoproliferative syndrome 1 def: "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." [NCIT:C126344] +subset: gard_rare {source="GARD:17979"} subset: ordo_disease synonym: "ITK deficiency" EXACT [NCIT:C126344] synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -260474,6 +267156,7 @@ synonym: "lymphoproliferative syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern] synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011] xref: DOID:0060707 {source="MONDO:equivalentTo"} +xref: GARD:17979 {source="Orphanet:538963"} xref: ICD10CM:D47.9 {source="DOID:0060707"} xref: MESH:C567815 {source="MONDO:equivalentTo"} xref: NCIT:C126344 {source="MONDO:equivalentTo"} @@ -260496,10 +267179,12 @@ property_value: confidence "3.012345679012345" xsd:double id: MONDO:0013082 name: Hirschsprung disease-ganglioneuroblastoma syndrome def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." [Orphanet:2151] +subset: gard_rare {source="GARD:2695"} subset: ordo_malformation_syndrome {source="Orphanet:2151"} subset: predisposition synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695] synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013] +xref: GARD:2695 {source="Orphanet:2151"} xref: ICD10CM:Q43.1 {source="Orphanet:2151/attributed", source="Orphanet:2151/ntbt", source="Orphanet:2151"} xref: MESH:C538119 {source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"} xref: Orphanet:2151 {source="MONDO:equivalentTo"} @@ -260516,6 +267201,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013083 name: neuroblastoma, susceptibility to, 3 def: "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15604"} subset: predisposition synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NBLST3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613014] @@ -260523,6 +267209,7 @@ synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern] synonym: "neuroblastoma, susceptibility to, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613014] synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014] synonym: "susceptibility to neuroblastoma 3" RELATED [OMIM:613014] +xref: GARD:15604 {source="OMIM:613014"} xref: OMIM:613014 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"} xref: UMLS:C2751681 {source="OMIM:613014", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -260538,9 +267225,11 @@ property_value: confidence "4.75" xsd:double [Term] id: MONDO:0013084 name: neuroblastoma, susceptibility to, 4 +subset: gard_rare {source="GARD:15605"} subset: predisposition synonym: "NBLST4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613015] synonym: "neuroblastoma, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613015] +xref: GARD:15605 {source="OMIM:613015"} xref: OMIM:613015 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="OMIM:613015", source="MONDO:relatedTo"} xref: UMLS:C2751680 {source="OMIM:613015", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -260550,9 +267239,11 @@ relationship: predisposes_towards MONDO:0005072 {source="OMIM:613015"} ! neurobl [Term] id: MONDO:0013085 name: neuroblastoma, susceptibility to, 5 +subset: gard_rare {source="GARD:15606"} subset: predisposition synonym: "NBLST5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613016] synonym: "neuroblastoma, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613016] +xref: GARD:15606 {source="OMIM:613016"} xref: OMIM:613016 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613016"} xref: UMLS:C2751679 {source="OMIM:613016", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -260562,9 +267253,11 @@ relationship: predisposes_towards MONDO:0005072 {source="OMIM:613016"} ! neurobl [Term] id: MONDO:0013086 name: neuroblastoma, susceptibility to, 6 +subset: gard_rare {source="GARD:15607"} subset: predisposition synonym: "NBLST6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613017] synonym: "neuroblastoma, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613017] +xref: GARD:15607 {source="OMIM:613017"} xref: OMIM:613017 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613017"} xref: UMLS:C2751678 {source="OMIM:613017", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -260575,6 +267268,7 @@ relationship: predisposes_towards MONDO:0005072 {source="OMIM:613017"} ! neurobl id: MONDO:0013087 name: bronchiectasis with or without elevated sweat chloride 2 def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18055"} synonym: "BESC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613021] synonym: "bronchiectasis caused by mutation in SCNN1A" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 2" EXACT [MONDO:Lexical, OMIM:613021] @@ -260582,6 +267276,7 @@ synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [ synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613021] synonym: "SCNN1A bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080527 {source="MONDO:equivalentTo"} +xref: GARD:18055 {source="OMIM:613021"} xref: MESH:C567813 {source="MONDO:equivalentTo"} xref: OMIM:613021 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="OMIM:613021"} @@ -260596,9 +267291,11 @@ property_value: confidence "19.99999999999998" xsd:double [Term] id: MONDO:0013088 name: follicular lymphoma, susceptibility to, 1 +subset: gard_rare {source="GARD:15608"} subset: predisposition synonym: "FL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613024] synonym: "follicular lymphoma, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:613024] +xref: GARD:15608 {source="OMIM:613024"} xref: OMIM:613024 {source="MONDO:equivalentTo"} xref: Orphanet:545 {source="OMIM:613024"} xref: UMLS:C2751665 {source="OMIM:613024", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -260635,7 +267332,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013090 name: chromosome 19q13.11 deletion syndrome def: "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." [Orphanet:217346] -subset: gard_rare {source="GARD:0010592"} +subset: gard_rare {source="GARD:10592"} subset: ordo_malformation_syndrome {source="Orphanet:217346"} synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408] synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [OMIM:613026] @@ -260643,6 +267340,7 @@ synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [OMIM:613026] synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346] synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346] xref: DOID:0060408 {source="MONDO:equivalentTo"} +xref: GARD:10592 {source="Orphanet:217346"} xref: ICD10CM:Q93.5 {source="Orphanet:217346/attributed", source="Orphanet:217346/ntbt", source="Orphanet:217346"} xref: MESH:C567810 {source="MONDO:equivalentTo", source="DOID:0060408"} xref: Orphanet:217346 {source="OMIM:613026", source="MONDO:equivalentTo", source="DOID:0060408"} @@ -260666,6 +267364,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10592/chromo id: MONDO:0013091 name: glycogen storage disease IXc def: "A liver PhK deficiency caused by variants in the PHKG2 gene" [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +subset: gard_rare {source="GARD:18387"} synonym: "glycogen storage disease caused by mutation in PHKG2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease IXc" EXACT CLINGEN_PREFERRED [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027] synonym: "glycogen storage disease type 9C" RELATED EXCLUDE [DOID:0111043] @@ -260678,6 +267377,7 @@ synonym: "GSD9C" EXACT ABBREVIATION [DOID:0111043, https://www.ncbi.nlm.nih.gov/ synonym: "PHKG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKG2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] xref: DOID:0111043 {source="MONDO:equivalentTo"} +xref: GARD:18387 {source="OMIM:613027"} xref: MESH:C567809 {source="MONDO:equivalentTo"} xref: OMIM:613027 {source="MONDO:equivalentTo", source="Orphanet:264580/btnt", source="DOID:0111043", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:264580"} xref: Orphanet:264580 {source="OMIM:613027"} @@ -260799,7 +267499,7 @@ relationship: excluded_subClassOf MONDO:0003847 ! hereditary disease id: MONDO:0013099 name: combined pituitary hormone deficiencies, genetic form def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." [Orphanet:95494] -subset: gard_rare +subset: gard_rare {source="GARD:10602"} subset: ordo_disease {source="Orphanet:95494"} synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [Orphanet:95494] synonym: "familial congenital hypopituitarism" EXACT [Orphanet:95494] @@ -260807,6 +267507,7 @@ synonym: "familial hypopituitarism" RELATED [GARD:0002252] synonym: "genetic hypopituitarism" EXACT [MONDO:patterns/genetic] synonym: "multiple pituitary hormone deficiencies, genetic forms" EXACT [Orphanet:95494] synonym: "pituitary hormone deficiency, combined" EXACT [OMIMPS:613038] +xref: GARD:10602 {source="Orphanet:95494"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95494/attributed", source="Orphanet:95494/ntbt", source="Orphanet:95494"} xref: OMIMPS:613038 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"} @@ -260823,8 +267524,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2252/familia [Term] id: MONDO:0013100 name: atrial fibrillation, familial, 8 +subset: gard_rare {source="GARD:15609"} synonym: "ATFB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613055] synonym: "atrial fibrillation, familial, 8" EXACT [MONDO:Lexical, OMIM:613055] +xref: GARD:15609 {source="OMIM:613055"} xref: MESH:C567802 {source="MONDO:equivalentTo"} xref: OMIM:613055 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:613055"} @@ -261001,6 +267704,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013110 name: neurodegenerative syndrome due to cerebral folate transport deficiency +subset: gard_rare {source="GARD:10594"} subset: ordo_disease {source="Orphanet:217382"} synonym: "cerebral folate deficiency syndrome" RELATED [GARD:0010594] synonym: "cerebral folate receptor alpha deficiency" EXACT [] @@ -261008,6 +267712,7 @@ synonym: "cerebral folate transport deficiency" RELATED [GARD:0010594] synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [OMIM:613068] synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT CLINGEN_PREFERRED [] xref: DOID:0050719 {source="MONDO:equivalentTo"} +xref: GARD:10594 {source="Orphanet:217382"} xref: ICD10CM:G31.8 {source="Orphanet:217382", source="Orphanet:217382/attributed", source="Orphanet:217382/ntbt"} xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567791 {source="MONDO:equivalentTo"} @@ -261026,6 +267731,7 @@ id: MONDO:0013111 name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins def: "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." [Orphanet:217371] comment: Editor note: add transient course +subset: gard_rare {source="GARD:10593"} subset: ordo_disease {source="Orphanet:217371"} synonym: "acute infantile liver failure" BROAD [GARD:0010593] synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371] @@ -261037,6 +267743,7 @@ synonym: "liver failure, transient infantile" EXACT [OMIM:613070, OMIM:genemap2] synonym: "transient infantile liver failure" EXACT [GARD:0010593] synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080778 {source="MONDO:equivalentTo"} +xref: GARD:10593 {source="Orphanet:217371"} xref: ICD10CM:K72.0 {source="Orphanet:217371", source="Orphanet:217371/attributed", source="Orphanet:217371/ntbt"} xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="Orphanet:217371/e"} xref: Orphanet:217371 {source="MONDO:equivalentTo", source="OMIM:613070"} @@ -261057,6 +267764,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013112 name: bronchiectasis with or without elevated sweat chloride 3 def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18056"} synonym: "BESC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613071] synonym: "bronchiectasis caused by mutation in SCNN1G" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [MONDO:Lexical, OMIM:613071] @@ -261064,6 +267772,7 @@ synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [ synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613071] synonym: "SCNN1G bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080528 {source="MONDO:equivalentTo"} +xref: GARD:18056 {source="OMIM:613071"} xref: MESH:C567772 {source="MONDO:equivalentTo"} xref: OMIM:613071 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="OMIM:613071"} @@ -261079,11 +267788,13 @@ property_value: confidence "19.99999999999998" xsd:double id: MONDO:0013113 name: metaphyseal anadysplasia 2 def: "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15610"} synonym: "MANDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613073] synonym: "metaphyseal anadysplasia 2" EXACT [MONDO:Lexical, OMIM:613073] synonym: "metaphyseal anadysplasia caused by mutation in MMP9" EXACT [MONDO:design_pattern] synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1, OMIM:613073] synonym: "MMP9 metaphyseal anadysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15610 {source="OMIM:613073"} xref: MESH:C567771 {source="MONDO:equivalentTo"} xref: OMIM:613073 {source="MONDO:equivalentTo"} xref: Orphanet:1040 {source="OMIM:613073"} @@ -261100,6 +267811,7 @@ id: MONDO:0013114 name: autosomal dominant nonsyndromic hearing loss 50 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." [DOID:0110576, PMID:19363479] subset: clingen +subset: gard_rare {source="GARD:18132"} synonym: "autosomal dominant deafness 50" NARROW [DOID:0110576] synonym: "autosomal dominant nonsyndromic deafness 50" NARROW [OMIM:613074] synonym: "autosomal dominant nonsyndromic deafness type 50" NARROW [DOID:0110576, MONDORULE:2] @@ -261107,6 +267819,7 @@ synonym: "deafness, autosomal dominant 50" RELATED [MONDO:Lexical, OMIM:613074] synonym: "deafness, autosomal dominant type 50" NARROW [MONDORULE:2, OMIM:613074] synonym: "DFNA50" NARROW ABBREVIATION [DOID:0110576, MONDO:Lexical, OMIM:613074] xref: DOID:0110576 {source="MONDO:equivalentTo"} +xref: GARD:18132 {source="OMIM:613074"} xref: ICD10CM:H90.3 {source="DOID:0110576"} xref: OMIM:613074 {source="MONDO:equivalentTo", source="DOID:0110576"} xref: UMLS:C1537752 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613074"} @@ -261121,6 +267834,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013115 name: RIN2 syndrome def: "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." [Orphanet:217335] +subset: gard_rare {source="GARD:17120"} subset: ordo_malformation_syndrome {source="Orphanet:217335"} synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [OMIM:613075] synonym: "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" EXACT [Orphanet:217335] @@ -261129,6 +267843,7 @@ synonym: "RIN2 deficiency" EXACT [Orphanet:217335] synonym: "RIN2 syndrome" EXACT CLINGEN_PREFERRED [] synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075] synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335] +xref: GARD:17120 {source="Orphanet:217335"} xref: ICD10CM:Q82.8 {source="Orphanet:217335/attributed", source="Orphanet:217335/ntbt", source="Orphanet:217335"} xref: MESH:C567770 {source="MONDO:equivalentTo"} xref: OMIM:613075 {source="Orphanet:217335/e", source="MONDO:equivalentTo", source="Orphanet:217335"} @@ -261142,6 +267857,7 @@ property_value: confidence "7.125" xsd:double [Term] id: MONDO:0013116 name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +subset: gard_rare {source="GARD:10522"} subset: ordo_disease {source="Orphanet:330054"} synonym: "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" EXACT [Orphanet:330054] synonym: "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" EXACT CLINGEN_PREFERRED [] @@ -261150,6 +267866,7 @@ synonym: "myopathy with cataract and combined respiratory chain deficiency" RELA synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELATED [GARD:0010522] synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076, OMIM:genemap2] synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076] +xref: GARD:10522 {source="Orphanet:330054"} xref: ICD10CM:G71.3 {source="Orphanet:330054", source="Orphanet:330054/attributed", source="Orphanet:330054/ntbt"} xref: MESH:C567769 {source="MONDO:equivalentTo"} xref: OMIM:613076 {source="Orphanet:330054", source="MONDO:equivalentTo", source="Orphanet:330054/e"} @@ -261167,6 +267884,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013117 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16501"} synonym: "PEOA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613077] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077] @@ -261174,6 +267892,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077] synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111518 {source="MONDO:equivalentTo"} +xref: GARD:16501 {source="OMIM:613077"} xref: MESH:C567768 {source="MONDO:equivalentTo"} xref: OMIM:613077 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:613077"} @@ -261189,6 +267908,7 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0013118 name: Nijmegen breakage syndrome-like disorder def: "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." [Orphanet:240760] +subset: gard_rare {source="GARD:17184"} subset: ordo_malformation_syndrome {source="Orphanet:240760"} synonym: "microcephaly and chromosomal instability without immunodeficiency" EXACT [Orphanet:240760] synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [OMIM:613078] @@ -261197,6 +267917,7 @@ synonym: "NBSLD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613078, Orphanet:240760 synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:613078] synonym: "RAD50 deficiency" EXACT [Orphanet:240760] synonym: "Rad50 deficiency" RELATED [OMIM:613078] +xref: GARD:17184 {source="Orphanet:240760"} xref: MESH:C567767 {source="MONDO:equivalentTo"} xref: NCIT:C153178 {source="MONDO:equivalentTo"} xref: OMIM:613078 {source="Orphanet:240760", source="MONDO:equivalentTo", source="Orphanet:240760/e"} @@ -261215,6 +267936,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013119 name: autosomal recessive nonsyndromic hearing loss 77 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22631"} synonym: "autosomal recessive deafness 77" NARROW [DOID:0110525] synonym: "autosomal recessive nonsyndromic deafness 77" NARROW CLINGEN_PREFERRED [OMIM:613079] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" NARROW [MONDO:design_pattern] @@ -261224,6 +267946,7 @@ synonym: "deafness, autosomal recessive type 77" NARROW [MONDORULE:2, OMIM:61307 synonym: "DFNB77" NARROW ABBREVIATION [DOID:0110525, MONDO:Lexical, OMIM:613079] synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110525 {source="MONDO:equivalentTo"} +xref: GARD:22631 {source="OMIM:613079"} xref: ICD10CM:H90.3 {source="DOID:0110525"} xref: MESH:C567543 {source="MONDO:equivalentTo"} xref: OMIM:613079 {source="DOID:0110525", source="MONDO:equivalentTo"} @@ -261238,6 +267961,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013120 name: 46,XY sex reversal 5 +subset: gard_rare {source="GARD:15611"} synonym: "46,XY gonadal dysgenesis, complete, Cbx2-related" RELATED [OMIM:613080] synonym: "46,XY SEX reversal 5" RELATED [OMIM:613080] synonym: "46,XY sex reversal 5" EXACT [MONDO:Lexical, OMIM:613080] @@ -261248,6 +267972,7 @@ synonym: "disorder of Sex development, 46,XY, Cbx2-related" RELATED [OMIM:613080 synonym: "Sex reversal, XY, Cbx2-related" RELATED [OMIM:613080] synonym: "SRXY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613080] xref: DOID:0111776 {source="MONDO:equivalentTo"} +xref: GARD:15611 {source="OMIM:613080"} xref: MESH:C567766 {source="MONDO:equivalentTo"} xref: OMIM:613080 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:613080"} @@ -261260,8 +267985,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013121 name: glaucoma 3, primary congenital, C +subset: gard_rare {source="GARD:18225"} synonym: "glaucoma 3, primary congenital, C" EXACT [MONDO:Lexical, OMIM:613085] synonym: "GLC3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613085] +xref: GARD:18225 {source="OMIM:613085"} xref: OMIM:613085 {source="MONDO:equivalentTo"} xref: Orphanet:98976 {source="OMIM:613085"} xref: UMLS:C1428921 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613085"} @@ -261272,9 +267999,11 @@ property_value: confidence "0.6519518666964457" xsd:double [Term] id: MONDO:0013122 name: glaucoma 3, primary congenital, D +subset: gard_rare {source="GARD:18226"} synonym: "glaucoma 3, primary congenital, D" EXACT [MONDO:Lexical, OMIM:613086] synonym: "glaucoma 3, primary congenital, type D" EXACT [MONDORULE:1, OMIM:613086] synonym: "GLC3D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613086] +xref: GARD:18226 {source="OMIM:613086"} xref: MESH:C567765 {source="MONDO:equivalentTo"} xref: OMIM:613086 {source="MONDO:equivalentTo"} xref: Orphanet:98976 {source="OMIM:613086"} @@ -261328,11 +268057,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013125 name: CLAPO syndrome def: "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." [Orphanet:168984] +subset: gard_rare {source="GARD:17044"} subset: ordo_malformation_syndrome {source="Orphanet:168984"} synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [OMIM:613089] synonym: "Clapo" RELATED [OMIM:613089] synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2] synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089] +xref: GARD:17044 {source="Orphanet:168984"} xref: ICD10CM:Q87.3 {source="Orphanet:168984/attributed", source="Orphanet:168984/ntbt", source="Orphanet:168984"} xref: MESH:C567763 {source="MONDO:equivalentTo"} xref: OMIM:613089 {source="Orphanet:168984", source="MONDO:equivalentTo", source="Orphanet:168984/e"} @@ -261354,6 +268085,7 @@ replaced_by: MONDO:0000909 id: MONDO:0013127 name: asphyxiating thoracic dystrophy 3 def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." [DOID:0110087, PMID:19442771] +subset: gard_rare {source="GARD:4835", source="GARD:4834", source="GARD:15613"} subset: ordo_malformation_syndrome {source="Orphanet:93270", source="Orphanet:93271"} synonym: "asphyxiating thoracic dystrophy 3" EXACT CLINGEN_PREFERRED [OMIM:613091] synonym: "asphyxiating thoracic dystrophy type 3" EXACT [DOID:0110087, MONDORULE:1] @@ -261381,6 +268113,9 @@ synonym: "type I short rib polydactyly syndrome" EXACT [DOID:0050549] synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, GARD:0004835, OMIM:613091] xref: DOID:0050549 {source="MONDO:equivalentTo"} xref: DOID:0110087 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:15613 {source="OMIM:613091"} +xref: GARD:4834 {source="Orphanet:93270"} +xref: GARD:4835 {source="Orphanet:93271"} xref: ICD10CM:Q77.2 {source="Orphanet:93271/attributed", source="Orphanet:93271/ntbt", source="Orphanet:93270/attributed", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270", source="Orphanet:93271"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537602 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"} @@ -261406,6 +268141,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013128 name: familial juvenile hyperuricemic nephropathy type 2 def: "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." [Orphanet:217330] +subset: gard_rare {source="GARD:13461"} subset: ordo_disease {source="Orphanet:217330"} synonym: "ADTKD-REN" EXACT [Orphanet:217330] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in REN" EXACT [PMID:25738250] @@ -261422,6 +268158,7 @@ synonym: "REN-associated FJHN" EXACT [Orphanet:217330] synonym: "REN-associated kidney disease" EXACT [Orphanet:217330] synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:217330] synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092, OMIM:genemap2] +xref: GARD:13461 {source="Orphanet:217330"} xref: MESH:C567760 {source="MONDO:equivalentTo"} xref: OMIM:613092 {source="Orphanet:217330/e", source="MONDO:equivalentTo", source="Orphanet:217330"} xref: Orphanet:217330 {source="MONDO:equivalentTo", source="OMIM:613092"} @@ -261440,12 +268177,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013129 name: cone dystrophy 4 def: "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16449"} synonym: "achromatopsia 5" RELATED [OMIM:613093] synonym: "COD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613093] synonym: "cone dystrophy 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613093] synonym: "cone dystrophy caused by mutation in PDE6C" EXACT [MONDO:design_pattern] synonym: "cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:613093] synonym: "PDE6C cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16449 {source="OMIM:613093"} xref: MESH:C567758 {source="MONDO:equivalentTo"} xref: NCIT:C164226 {source="MONDO:equivalentTo"} xref: OMIM:613093 {source="MONDO:equivalentTo"} @@ -261486,6 +268225,7 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0013131 name: polycystic kidney disease 2 def: "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." [NCIT:C123166] +subset: gard_rare {source="GARD:18599"} synonym: "APKD2" EXACT ABBREVIATION [DOID:0110859] synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD2" EXACT [MONDO:design_pattern] synonym: "Autosomal dominant polycystic kidney disease type 2" EXACT [NCIT:C123166] @@ -261497,6 +268237,7 @@ synonym: "polycystic kidney disease type 2" EXACT [DOID:0110859, MONDORULE:1, OM synonym: "polycystic kidney disease, adult, type 2" RELATED [OMIM:613095] synonym: "polycystic kidney disease, adult, type II" EXACT [DOID:0110859] xref: DOID:0110859 {source="MONDO:equivalentTo"} +xref: GARD:18599 {source="OMIM:613095"} xref: NCIT:C123166 {source="MONDO:equivalentTo"} xref: OMIM:613095 {source="DOID:0110859", source="MONDO:equivalentTo"} xref: Orphanet:730 {source="OMIM:613095"} @@ -261512,6 +268253,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013132 name: hereditary spastic paraplegia 36 def: "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." [Orphanet:320365] +subset: gard_rare {source="GARD:17472"} subset: ordo_disease {source="Orphanet:320365"} synonym: "autosomal dominant spastic paraplegia 36" EXACT [DOID:0110787] synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787] @@ -261519,6 +268261,7 @@ synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE: synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096] synonym: "SPG36" EXACT ABBREVIATION [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365] xref: DOID:0110787 {source="MONDO:equivalentTo"} +xref: GARD:17472 {source="Orphanet:320365"} xref: ICD10CM:G11.4 {source="DOID:0110787", source="Orphanet:320365", source="Orphanet:320365/attributed", source="Orphanet:320365/ntbt"} xref: MESH:C567930 {source="MONDO:equivalentTo"} xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="MONDO:equivalentTo", source="Orphanet:320365/e"} @@ -261533,12 +268276,14 @@ property_value: confidence "22.611111111111114" xsd:double [Term] id: MONDO:0013133 name: melanoma, cutaneous malignant, susceptibility to, 5 +subset: gard_rare {source="GARD:18579"} subset: predisposition synonym: "CMM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613099] synonym: "melanoma, cutaneous malignant, 5" EXACT [OMIM:613099, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613099] synonym: "melanoma, cutaneous malignant, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613099] synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [OMIM:613099] +xref: GARD:18579 {source="OMIM:613099"} xref: OMIM:613099 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613099"} xref: UMLS:C2751295 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613099"} @@ -261578,6 +268323,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013135 name: familial hemophagocytic lymphohistiocytosis 5 def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15614"} synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [DOID:0110925, MONDORULE:1] synonym: "FHL5" EXACT ABBREVIATION [DOID:0110925, MONDO:Lexical, OMIM:613101] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2" EXACT [MONDO:design_pattern] @@ -261588,6 +268334,7 @@ synonym: "HLH5" EXACT ABBREVIATION [DOID:0110925] synonym: "HPLH5" EXACT ABBREVIATION [DOID:0110925] synonym: "STXBP2 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110925 {source="MONDO:equivalentTo"} +xref: GARD:15614 {source="OMIM:613101"} xref: MESH:C567752 {source="MONDO:equivalentTo"} xref: OMIM:613101 {source="DOID:0110925", source="MONDO:equivalentTo"} xref: Orphanet:540 {source="OMIM:613101", source="MONDO:directSiblingOf"} @@ -261602,9 +268349,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013136 name: hereditary hypotrichosis with recurrent skin vesicles def: "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." [Orphanet:217407] +subset: gard_rare {source="GARD:17124"} subset: ordo_disease {source="Orphanet:217407"} synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT CLINGEN_PREFERRED [] synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102] +xref: GARD:17124 {source="Orphanet:217407"} xref: MESH:C567751 {source="MONDO:equivalentTo"} xref: OMIM:613102 {source="Orphanet:217407", source="MONDO:equivalentTo", source="Orphanet:217407/e"} xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"} @@ -261617,12 +268366,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013137 name: choroidal dystrophy, central areolar 2 def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15615"} synonym: "CACD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613105] synonym: "central areolar choroidal dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "choroidal dystrophy, central areolar 2" EXACT [MONDO:Lexical, OMIM:613105] synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1, OMIM:613105] synonym: "macular dystrophy, progressive" RELATED [OMIM:613105] synonym: "PRPH2 central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15615 {source="OMIM:613105"} xref: MESH:C567750 {source="MONDO:equivalentTo"} xref: OMIM:613105 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="OMIM:613105"} @@ -261648,12 +268399,14 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0013139 name: neutropenia, severe congenital, 2, autosomal dominant def: "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15616"} synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern] synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neutropenia, severe congenital 2, autosomal dominant" EXACT [OMIM:613107, OMIM:genemap2] synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107] synonym: "SCN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613107] xref: DOID:0112131 {source="MONDO:equivalentTo"} +xref: GARD:15616 {source="OMIM:613107"} xref: MESH:C567748 {source="MONDO:equivalentTo"} xref: OMIM:613107 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="OMIM:613107"} @@ -261670,6 +268423,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013140 name: candidiasis, familial, 4 def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15617"} synonym: "CANDF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613108] synonym: "candidiasis, familial chronic mucocutaneous" RELATED [OMIM:613108] synonym: "candidiasis, familial, 4" EXACT [MONDO:Lexical, OMIM:613108] @@ -261677,6 +268431,7 @@ synonym: "candidiasis, familial, 4, autosomal recessive" EXACT [OMIM:613108, OMI synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1, OMIM:613108] synonym: "CLEC7A familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" EXACT [MONDO:design_pattern] +xref: GARD:15617 {source="OMIM:613108"} xref: OMIM:613108 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="OMIM:613108"} xref: SCTID:235073000 {source="MONDO:equivalentTo"} @@ -261699,6 +268454,7 @@ replaced_by: MONDO:0800046 id: MONDO:0013142 name: neuropathy, hereditary sensory and autonomic, type 2B def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15618"} synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [DOID:0070150] synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [DOID:0070150] @@ -261707,6 +268463,7 @@ synonym: "neuropathy, hereditary sensory and autonomic, type 2B" EXACT CLINGEN_P synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical, OMIM:613115] synonym: "RETREG1 hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070150 {source="MONDO:equivalentTo"} +xref: GARD:15618 {source="OMIM:613115"} xref: OMIM:613115 {source="MONDO:equivalentTo", source="DOID:0070150"} xref: Orphanet:970 {source="OMIM:613115"} xref: UMLS:C2751092 {source="OMIM:613115", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -261719,6 +268476,7 @@ property_value: confidence "0.7993530796457187" xsd:double [Term] id: MONDO:0013143 name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +subset: gard_rare {source="GARD:17125"} subset: ordo_disease {source="Orphanet:217467"} synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [Orphanet:217467] synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613116] @@ -261726,6 +268484,7 @@ synonym: "thrombophilia 11 due to HRG deficiency" EXACT [OMIM:613116, OMIM:genem synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116] synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116] xref: DOID:0111903 {source="MONDO:equivalentTo"} +xref: GARD:17125 {source="Orphanet:217467"} xref: ICD10CM:D68.5 {source="Orphanet:217467/attributed", source="Orphanet:217467/ntbt", source="Orphanet:217467"} xref: MESH:C567737 {source="MONDO:equivalentTo"} xref: OMIM:613116 {source="Orphanet:217467/e", source="MONDO:equivalentTo", source="Orphanet:217467"} @@ -261743,6 +268502,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013144 name: hereditary antithrombin deficiency def: "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." [Orphanet:82] +subset: gard_rare {source="GARD:6148"} subset: ordo_disease {source="Orphanet:82"} synonym: "antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "antithrombin III deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613118] @@ -261758,6 +268518,7 @@ synonym: "thrombophilia 7 due to antithrombin III deficiency" EXACT [OMIM:613118 synonym: "thrombophilia due to antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "thrombophilia due to antithrombin III deficiency" EXACT [GARD:0006148] xref: DOID:3755 {source="MONDO:equivalentTo"} +xref: GARD:6148 {source="Orphanet:82"} xref: ICD10CM:D68.5 {source="Orphanet:82/inclusion", source="Orphanet:82/ntbt", source="Orphanet:82"} xref: ICD10CM:D68.59 {source="DOID:3755"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -261779,12 +268540,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013145 name: Brugada syndrome 6 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15619"} synonym: "BRGDA6" EXACT ABBREVIATION [DOID:0110223, MONDO:Lexical, OMIM:613119] synonym: "Brugada syndrome 6" EXACT [MONDO:Lexical, OMIM:613119] synonym: "Brugada syndrome caused by mutation in KCNE3" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 6" EXACT [DOID:0110223, MONDORULE:1, OMIM:613119] synonym: "KCNE3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110223 {source="MONDO:equivalentTo"} +xref: GARD:15619 {source="OMIM:613119"} xref: ICD10CM:I49.8 {source="DOID:0110223"} xref: MESH:C567735 {source="MONDO:equivalentTo"} xref: OMIM:613119 {source="MONDO:equivalentTo", source="DOID:0110223"} @@ -261799,6 +268562,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013146 name: Brugada syndrome 7 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15620"} synonym: "atrial fibrillation, familial, 16" RELATED [OMIM:613120] synonym: "BRGDA7" EXACT ABBREVIATION [DOID:0110224, MONDO:Lexical, OMIM:613120] synonym: "Brugada syndrome 7" EXACT [MONDO:Lexical, OMIM:613120] @@ -261806,6 +268570,7 @@ synonym: "Brugada syndrome caused by mutation in SCN3B" EXACT [MONDO:design_patt synonym: "Brugada syndrome type 7" EXACT [DOID:0110224, MONDORULE:1, OMIM:613120] synonym: "SCN3B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110224 {source="MONDO:equivalentTo"} +xref: GARD:15620 {source="OMIM:613120"} xref: ICD10CM:I49.8 {source="DOID:0110224"} xref: MESH:C567734 {source="MONDO:equivalentTo"} xref: OMIM:613120 {source="MONDO:equivalentTo", source="DOID:0110224"} @@ -261822,6 +268587,7 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0013147 name: dilated cardiomyopathy 1CC def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15621"} synonym: "cardiomyopathy, dilated, 1CC" RELATED [MONDO:Lexical, OMIM:613122] synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9, OMIM:613122] synonym: "CMD1CC" EXACT ABBREVIATION [DOID:0110424, MONDO:Lexical, OMIM:613122] @@ -261829,6 +268595,7 @@ synonym: "dilated cardiomyopathy type 1CC" EXACT [DOID:0110424, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] synonym: "NEXN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110424 {source="MONDO:equivalentTo"} +xref: GARD:15621 {source="OMIM:613122"} xref: ICD10CM:I42.0 {source="DOID:0110424"} xref: MESH:C567733 {source="MONDO:equivalentTo"} xref: OMIM:613122 {source="DOID:0110424", source="MONDO:equivalentTo"} @@ -261842,12 +268609,14 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013148 name: Brugada syndrome 8 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15622"} synonym: "BRGDA8" EXACT ABBREVIATION [DOID:0110225, MONDO:Lexical, OMIM:613123] synonym: "Brugada syndrome 8" EXACT [MONDO:Lexical, OMIM:613123] synonym: "Brugada syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 8" EXACT [DOID:0110225, MONDORULE:1, OMIM:613123] synonym: "HCN4 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110225 {source="MONDO:equivalentTo"} +xref: GARD:15622 {source="OMIM:613123"} xref: ICD10CM:I49.8 {source="DOID:0110225"} xref: MESH:C567732 {source="MONDO:equivalentTo"} xref: OMIM:613123 {source="DOID:0110225", source="MONDO:equivalentTo"} @@ -261871,6 +268640,7 @@ is_a: MONDO:0003847 {source="MESH:C567731/inferred"} ! hereditary disease id: MONDO:0013150 name: parkinsonism-dystonia, infantile def: "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." [Orphanet:238455] +subset: gard_rare {source="GARD:10484"} subset: ordo_disease {source="Orphanet:238455"} synonym: "dopamine transporter deficiency syndrome" EXACT [OMIM:613135] synonym: "infantile Parkinsonism-dystonia" EXACT [OMIMPS:613135] @@ -261879,6 +268649,7 @@ synonym: "Parkinsonism-dystonia infantile" EXACT [OMIMPS:613135] synonym: "PARKINSONISM-dystonia, infantile" EXACT [MONDO:Lexical, OMIMPS:613135] synonym: "parkinsonism-dystonia, infantile" EXACT CLINGEN_PREFERRED [] synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613135, Orphanet:238455] +xref: GARD:10484 {source="Orphanet:238455"} xref: MESH:C567730 {source="MONDO:equivalentTo"} xref: NCIT:C129866 {source="MONDO:mondoIsBroaderThanSource"} xref: OMIMPS:613135 {source="MONDO:equivalentTo"} @@ -261894,9 +268665,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013151 name: choroidal dystrophy, central areolar, 3 +subset: gard_rare {source="GARD:15623"} synonym: "CACD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613144] synonym: "choroidal dystrophy, central areolar, 3" EXACT [MONDO:Lexical, OMIM:613144] synonym: "choroidal dystrophy, central areolar, with or without drusen" RELATED [OMIM:613144] +xref: GARD:15623 {source="OMIM:613144"} xref: MESH:C567729 {source="MONDO:equivalentTo"} xref: OMIM:613144 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="OMIM:613144"} @@ -261920,6 +268693,7 @@ relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus id: MONDO:0013153 name: inflammatory bowel disease 28 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18343"} synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [DOID:0110899] synonym: "IBD28" EXACT ABBREVIATION [DOID:0110899, MONDO:Lexical, OMIM:613148] synonym: "IL10RA inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -261930,6 +268704,7 @@ synonym: "inflammatory bowel disease caused by mutation in IL10RA" EXACT [MONDO: synonym: "inflammatory bowel disease type 28" EXACT [DOID:0110899, MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" EXACT [OMIM:613148] xref: DOID:0110899 {source="MONDO:equivalentTo"} +xref: GARD:18343 {source="OMIM:613148"} xref: MESH:C567728 {source="MONDO:equivalentTo"} xref: NCIT:C164676 {source="MONDO:equivalentTo"} xref: OMIM:613148 {source="DOID:0110899", source="MONDO:equivalentTo"} @@ -261947,12 +268722,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013154 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." [NCIT:C126742] +subset: gard_rare {source="GARD:15624"} synonym: "MDDGA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613150] synonym: "muscle-eye-brain-POMT2 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2" EXACT [NCIT:C126742] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [MONDO:Lexical, OMIM:613150] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [OMIM:613150] xref: DOID:0111240 {source="MONDO:equivalentTo"} +xref: GARD:15624 {source="OMIM:613150"} xref: NCIT:C126742 {source="MONDO:equivalentTo"} xref: OMIM:613150 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:613150"} @@ -261970,12 +268747,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013155 name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +subset: gard_rare {source="GARD:18455"} synonym: "congenital muscular dystrophy-POMGNT1 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [OMIM:613151] synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3" RELATED [MONDO:Lexical, OMIM:613151] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] xref: DOID:0112378 {source="MONDO:equivalentTo"} +xref: GARD:18455 {source="OMIM:613151"} xref: OMIM:613151 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613151"} xref: UMLS:C3150412 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613151"} @@ -261989,12 +268768,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013156 name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +subset: gard_rare {source="GARD:18456"} synonym: "congenital muscular dystrophy-FKTN related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGB4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [OMIM:613152] synonym: "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4" RELATED [MONDO:Lexical, OMIM:613152] synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] xref: DOID:0112379 {source="MONDO:equivalentTo"} +xref: GARD:18456 {source="OMIM:613152"} xref: OMIM:613152 {source="MONDO:equivalentTo"} xref: Orphanet:370980 {source="OMIM:613152"} xref: UMLS:C2751052 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613152"} @@ -262008,11 +268789,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013157 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +subset: gard_rare {source="GARD:15625"} synonym: "MDDGA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613153] synonym: "muscle-eye-brain-FKRP related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical, OMIM:613153] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [OMIM:613153] xref: DOID:0111241 {source="MONDO:equivalentTo"} +xref: GARD:15625 {source="OMIM:613153"} xref: OMIM:613153 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:613153"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613153"} @@ -262029,11 +268812,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013158 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 def: "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126743] +subset: gard_rare {source="GARD:15626"} synonym: "MDDGA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613154] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6" EXACT [NCIT:C126743] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical, OMIM:613154] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [OMIM:613154] xref: DOID:0111242 {source="MONDO:equivalentTo"} +xref: GARD:15626 {source="OMIM:613154"} xref: NCIT:C126743 {source="MONDO:equivalentTo"} xref: OMIM:613154 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:613154"} @@ -262093,6 +268878,7 @@ id: MONDO:0013161 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." [Orphanet:206564] comment: The ClinGen working group (https://clinicalgenome.org/affiliation/40151/) noted that 'autosomal recessive limb-girdle muscular dystrophy type 2O' does not have significant associations with POMGNT1. A publication is in preparation. +subset: gard_rare {source="GARD:12540"} subset: ordo_disease {source="Orphanet:206564"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1" EXACT [MONDO:design_pattern] synonym: "LGMD-POMGNT1 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] @@ -262106,6 +268892,7 @@ synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXA synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [OMIM:613157] synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110292 {source="MONDO:equivalentTo"} +xref: GARD:12540 {source="Orphanet:206564"} xref: ICD10CM:G71.0 {source="DOID:0110292", source="Orphanet:206564/attributed", source="Orphanet:206564/ntbt", source="Orphanet:206564"} xref: OMIM:613157 {source="Orphanet:206564/e", source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564"} xref: Orphanet:206564 {source="OMIM:613157", source="MONDO:equivalentTo", source="DOID:0110292"} @@ -262124,6 +268911,7 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0013162 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." [Orphanet:206559] +subset: gard_rare {source="GARD:12539"} subset: ordo_disease {source="Orphanet:206559"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2" EXACT [MONDO:design_pattern] synonym: "LGMD-POMT2 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] @@ -262137,6 +268925,7 @@ synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [OMIM:613158] synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110298 {source="MONDO:equivalentTo"} +xref: GARD:12539 {source="Orphanet:206559"} xref: ICD10CM:G71.0 {source="Orphanet:206559", source="Orphanet:206559/attributed", source="Orphanet:206559/ntbt", source="DOID:0110298"} xref: OMIM:613158 {source="Orphanet:206559", source="MONDO:equivalentTo", source="Orphanet:206559/e", source="DOID:0110298"} xref: Orphanet:206559 {source="OMIM:613158", source="MONDO:equivalentTo", source="DOID:0110298"} @@ -262156,6 +268945,7 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0013163 name: nephronophthisis-like nephropathy 1 def: "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18180"} synonym: "nephronophthisis (disease) caused by mutation in XPNPEP3" EXACT [] synonym: "nephronophthisis-like nephropathy 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613159] synonym: "nephronophthisis-like nephropathy type 1" EXACT [DOID:0111117, MONDORULE:1, OMIM:613159] @@ -262163,6 +268953,7 @@ synonym: "NPHP-XPNPEP3" EXACT [PMID:32660933] synonym: "NPHPL1" EXACT ABBREVIATION [DOID:0111117, MONDO:Lexical, OMIM:613159] synonym: "XPNPEP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111117 {source="MONDO:equivalentTo"} +xref: GARD:18180 {source="OMIM:613159"} xref: OMIM:613159 {source="DOID:0111117", source="MONDO:equivalentTo"} xref: Orphanet:655 {source="OMIM:613159"} xref: UMLS:C3150419 {source="OMIM:613159", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -262176,11 +268967,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013164 name: beta-ureidopropionase deficiency def: "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." [Orphanet:65287] +subset: gard_rare {source="GARD:16669"} subset: ordo_disease {source="Orphanet:65287"} synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287] synonym: "BETA-ureidopropionase deficiency" RELATED [OMIM:613161] synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_PREFERRED [OMIM:613161] synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161] +xref: GARD:16669 {source="Orphanet:65287"} xref: ICD10CM:E79.8 {source="Orphanet:65287/attributed", source="Orphanet:65287/ntbt", source="Orphanet:65287"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563210 {source="MONDO:equivalentTo"} @@ -262196,6 +268989,7 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0013165 name: hereditary spastic paraplegia 45 def: "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." [Orphanet:320396] +subset: gard_rare {source="GARD:17477"} subset: ordo_disease {source="Orphanet:320396"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797] @@ -262207,6 +269001,7 @@ synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG45" EXACT ABBREVIATION [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396] synonym: "SPG65" EXACT ABBREVIATION [DOID:0110797, Orphanet:320396] xref: DOID:0110797 {source="MONDO:equivalentTo"} +xref: GARD:17477 {source="Orphanet:320396"} xref: ICD10CM:G11.4 {source="Orphanet:320396", source="DOID:0110797", source="Orphanet:320396/attributed", source="Orphanet:320396/ntbt"} xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="MONDO:equivalentTo", source="Orphanet:320396/e"} xref: Orphanet:320396 {source="DOID:0110797", source="MONDO:equivalentTo", source="OMIM:613162"} @@ -262223,7 +269018,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013166 name: GABA aminotransaminase deficiency def: "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." [Orphanet:2066] -subset: gard_rare +subset: gard_rare {source="GARD:194"} subset: ordo_disease {source="Orphanet:2066"} synonym: "4 alpha aminobutyrate transaminase deficiency" RELATED [GARD:0000194] synonym: "ABAT" RELATED ABBREVIATION [GARD:0000194] @@ -262236,6 +269031,7 @@ synonym: "gamma aminobutyric acid transaminase deficiency" RELATED [GARD:0000194 synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [DOID:0060174] synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174] xref: DOID:0060174 {source="MONDO:equivalentTo"} +xref: GARD:194 {source="Orphanet:2066"} xref: HGNC:23 {source="GARD:0000194"} xref: ICD10CM:E72.8 {source="Orphanet:2066", source="Orphanet:2066/attributed", source="Orphanet:2066/ntbt"} xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e"} @@ -262264,6 +269060,7 @@ is_a: MONDO:0005180 {source="DC-OMIM:613164", source="MESH:C567726", source="OMI id: MONDO:0013168 name: dilated cardiomyopathy 1DD def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15627"} synonym: "cardiomyopathy, dilated, 1DD" RELATED [MONDO:Lexical, OMIM:613172] synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9, OMIM:613172] synonym: "CMD1DD" EXACT ABBREVIATION [DOID:0110447, MONDO:Lexical, OMIM:613172] @@ -262271,6 +269068,7 @@ synonym: "dilated cardiomyopathy type 1DD" EXACT [DOID:0110447, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in RBM20" EXACT [MONDO:design_pattern] synonym: "RBM20 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110447 {source="MONDO:equivalentTo"} +xref: GARD:15627 {source="OMIM:613172"} xref: ICD10CM:I42.0 {source="DOID:0110447"} xref: MESH:C567725 {source="MONDO:equivalentTo"} xref: OMIM:613172 {source="DOID:0110447", source="MONDO:equivalentTo"} @@ -262283,6 +269081,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013169 name: chromosome 5p13 duplication syndrome def: "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." [Orphanet:329802] +subset: gard_rare {source="GARD:17505"} subset: ordo_malformation_syndrome {source="Orphanet:329802"} synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460] synonym: "chromosome 5p13 duplication syndrome" EXACT [OMIM:613174] @@ -262290,6 +269089,7 @@ synonym: "chromosome 5p13 duplication syndrome, isolated cases" EXACT [OMIM:6131 synonym: "dup(5)(p13)" EXACT [Orphanet:329802] synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802] xref: DOID:0060460 {source="MONDO:equivalentTo"} +xref: GARD:17505 {source="Orphanet:329802"} xref: MESH:C567717 {source="MONDO:equivalentTo"} xref: OMIM:613174 {source="Orphanet:329802", source="MONDO:equivalentTo", source="Orphanet:329802/e", source="DOID:0060460"} xref: Orphanet:329802 {source="MONDO:equivalentTo", source="OMIM:613174", source="DOID:0060460"} @@ -262310,6 +269110,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013170 name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies def: "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" [DOID:0070139] +subset: gard_rare {source="GARD:17140"} subset: ordo_malformation_syndrome {source="Orphanet:221145"} synonym: "ARCL1C" EXACT ABBREVIATION [DOID:0070139, MONDO:Lexical, OMIM:613177] synonym: "autosomal recessive cutis laxa type 1C" EXACT [DOID:0070139, Orphanet:221145] @@ -262319,6 +269120,7 @@ synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177] synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177] synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145] xref: DOID:0070139 {source="MONDO:equivalentTo"} +xref: GARD:17140 {source="Orphanet:221145"} xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="Orphanet:221145/attributed", source="Orphanet:221145/ntbt"} xref: MESH:C567716 {source="MONDO:equivalentTo"} xref: OMIM:613177 {source="Orphanet:221145", source="MONDO:equivalentTo", source="DOID:0070139", source="Orphanet:221145/e"} @@ -262336,7 +269138,7 @@ property_value: confidence "9.0" xsd:double id: MONDO:0013171 name: purine nucleoside phosphorylase deficiency def: "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." [Orphanet:760] -subset: gard_rare {source="GARD:0004606"} +subset: gard_rare {source="GARD:4606"} subset: ordo_disease {source="Orphanet:760"} synonym: "deficiency of inosine phosphorylase" EXACT [DOID:5813] synonym: "immunodeficiency due to purine nucleoside phosphorylase deficiency" EXACT [OMIM:613179, OMIM:genemap2] @@ -262346,6 +269148,7 @@ synonym: "PNPase deficiency" EXACT [Orphanet:760] synonym: "purine nucleoside phosphorylase deficiency" EXACT CLINGEN_PREFERRED [DOID:5813, OMIM:613179] synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C3963] xref: DOID:5813 {source="MONDO:equivalentTo"} +xref: GARD:4606 {source="Orphanet:760"} xref: HGNC:7892 {source="GARD:0004606"} xref: ICD10CM:D81.5 {source="Orphanet:760/e", source="Orphanet:760/specific", source="DOID:5813", source="Orphanet:760"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -262370,11 +269173,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4606/purine- id: MONDO:0013172 name: polymicrogyria with optic nerve hypoplasia def: "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." [Orphanet:250972] +subset: gard_rare {source="GARD:20687"} subset: ordo_malformation_syndrome {source="Orphanet:250972"} synonym: "CDCBM8" RELATED ABBREVIATION [OMIM:613180] synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [OMIM:613180] synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [OMIM:613180] synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180] +xref: GARD:20687 {source="Orphanet:250972"} xref: MESH:C567715 {source="MONDO:equivalentTo"} xref: OMIM:613180 {source="MONDO:equivalentObsolete", source="Orphanet:250972", source="Orphanet:250972/e"} xref: Orphanet:250972 {source="MONDO:equivalentTo", source="OMIM:613180"} @@ -262393,6 +269198,7 @@ property_value: confidence "8.375" xsd:double id: MONDO:0013173 name: intellectual disability, autosomal recessive 13 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22548"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 13" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613192] synonym: "intellectual disability, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192] @@ -262401,6 +269207,7 @@ synonym: "mental retardation, autosomal recessive type 13" EXACT DEPRECATED [MON synonym: "MRT13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192] synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081098 {source="MONDO:equivalentTo"} +xref: GARD:22548 {source="OMIM:613192"} xref: MESH:C567714 {source="MONDO:equivalentTo"} xref: OMIM:613192 {source="MONDO:equivalentTo"} xref: UMLS:C2750791 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613192"} @@ -262414,6 +269221,7 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013174 name: primary ciliary dyskinesia 13 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15628"} synonym: "CILD13" EXACT ABBREVIATION [DOID:0110618, MONDO:Lexical, OMIM:613193] synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical, OMIM:613193] synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [OMIM:613193] @@ -262424,6 +269232,7 @@ synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in DNAAF1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 13" EXACT [DOID:0110618, MONDORULE:2] xref: DOID:0110618 {source="MONDO:equivalentTo"} +xref: GARD:15628 {source="OMIM:613193"} xref: ICD10CM:Q34.8 {source="DOID:0110618"} xref: MESH:C567713 {source="MONDO:equivalentTo"} xref: OMIM:613193 {source="MONDO:equivalentTo", source="DOID:0110618"} @@ -262438,6 +269247,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013175 name: retinitis pigmentosa 50 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15629"} synonym: "BEST1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 50" EXACT [MONDO:Lexical, OMIM:613194] synonym: "retinitis pigmentosa caused by mutation in BEST1" EXACT [MONDO:design_pattern] @@ -262446,6 +269256,7 @@ synonym: "retinitis pigmentosa, concentric" RELATED [OMIM:613194] synonym: "retinitis pigmentosa-50" EXACT [OMIM:613194, OMIM:genemap2] synonym: "RP50" EXACT ABBREVIATION [DOID:0110396, MONDO:Lexical, OMIM:613194] xref: DOID:0110396 {source="MONDO:equivalentTo"} +xref: GARD:15629 {source="OMIM:613194"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110396"} xref: MESH:C567712 {source="MONDO:equivalentTo"} xref: OMIM:613194 {source="MONDO:equivalentTo", source="DOID:0110396"} @@ -262460,12 +269271,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013176 name: Weill-Marchesani 4 syndrome, recessive +subset: gard_rare {source="GARD:17579"} subset: ordo_disease {source="Orphanet:363992"} synonym: "15q26.3 microdeletion syndrome" EXACT [Orphanet:363992] synonym: "ichthyosis-short stature-brachydactyly-microspherophakia syndrome" EXACT CLINGEN_PREFERRED [Orphanet:363992] synonym: "Weill-Marchesani syndrome 4" EXACT [OMIM:613195] synonym: "Weill-Marchesani-like syndrome" EXACT [OMIM:613195] synonym: "WMS4" EXACT ABBREVIATION [OMIM:613195] +xref: GARD:17579 {source="Orphanet:363992"} xref: ICD10CM:Q93.5 {source="Orphanet:363992/attributed", source="Orphanet:363992/ntbt", source="Orphanet:363992"} xref: MESH:C567710 {source="MONDO:equivalentTo"} xref: OMIM:613195 {source="Orphanet:363992", source="MONDO:equivalentTo", source="Orphanet:363992/e"} @@ -262483,6 +269296,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013177 name: congenital muscular dystrophy due to integrin alpha-7 deficiency def: "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." [Orphanet:34520] +subset: gard_rare {source="GARD:12587"} subset: ordo_disease {source="Orphanet:34520"} synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639] @@ -262493,6 +269307,7 @@ synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RE synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587] synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204] xref: DOID:0110639 {source="MONDO:equivalentTo"} +xref: GARD:12587 {source="Orphanet:34520"} xref: ICD10CM:G71.2 {source="DOID:0110639", source="Orphanet:34520/attributed", source="Orphanet:34520/ntbt", source="Orphanet:34520"} xref: MESH:C567709 {source="MONDO:equivalentTo"} xref: OMIM:613204 {source="Orphanet:34520/e", source="DOID:0110639", source="MONDO:equivalentTo", source="Orphanet:34520"} @@ -262510,7 +269325,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013178 name: congenital muscular dystrophy due to LMNA mutation def: "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." [Orphanet:157973] -subset: gard_rare {source="GARD:0012585"} +subset: gard_rare {source="GARD:12585"} subset: ordo_disease {source="Orphanet:157973"} synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640] @@ -262522,6 +269337,7 @@ synonym: "muscular dystrophy Congenital, LMNA-related" EXACT [NCIT:C148369] synonym: "muscular dystrophy, congenital" EXACT [OMIM:613205, OMIM:genemap2] synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205] xref: DOID:0110640 {source="MONDO:equivalentTo"} +xref: GARD:12585 {source="Orphanet:157973"} xref: ICD10CM:G71.2 {source="Orphanet:157973/attributed", source="Orphanet:157973/ntbt", source="Orphanet:157973", source="DOID:0110640"} xref: MESH:C567708 {source="MONDO:equivalentTo"} xref: NCIT:C148369 {source="MONDO:equivalentTo"} @@ -262542,6 +269358,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12585/congen id: MONDO:0013179 name: hereditary spastic paraplegia 44 def: "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." [Orphanet:320401] +subset: gard_rare {source="GARD:17478"} subset: ordo_disease {source="Orphanet:320401"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796] @@ -262551,6 +269368,7 @@ synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE: synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206] synonym: "SPG44" EXACT ABBREVIATION [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401] xref: DOID:0110796 {source="MONDO:equivalentTo"} +xref: GARD:17478 {source="Orphanet:320401"} xref: ICD10CM:G11.4 {source="Orphanet:320401", source="DOID:0110796", source="Orphanet:320401/attributed", source="Orphanet:320401/ntbt"} xref: MESH:C567707 {source="MONDO:equivalentTo"} xref: OMIM:613206 {source="MONDO:equivalentTo", source="Orphanet:320401", source="Orphanet:320401/e", source="DOID:0110796"} @@ -262580,6 +269398,7 @@ is_a: MONDO:0010940 {source="MONDO:cjm"} ! inherited susceptibility to asthma id: MONDO:0013181 name: amelogenesis imperfecta hypomaturation type 2A3 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15630"} synonym: "AI2A3" EXACT ABBREVIATION [DOID:0110061, MONDO:Lexical, OMIM:613211] synonym: "amelogenesis imperfecta caused by mutation in WDR72" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type 2A3" EXACT CLINGEN_PREFERRED [] @@ -262589,6 +269408,7 @@ synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lex synonym: "amelogenesis imperfecta, type IIA3" EXACT [OMIM:613211, OMIM:genemap2] synonym: "WDR72 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110061 {source="MONDO:equivalentTo"} +xref: GARD:15630 {source="OMIM:613211"} xref: ICD10CM:K00.5 {source="DOID:0110061"} xref: MESH:C567706 {source="MONDO:equivalentTo"} xref: OMIM:613211 {source="MONDO:equivalentTo", source="DOID:0110061"} @@ -262607,6 +269427,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013182 name: chromosome 17p13.3 duplication syndrome def: "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." [Orphanet:217385] +subset: gard_rare {source="GARD:17122"} subset: ordo_malformation_syndrome {source="Orphanet:217385"} synonym: "17p13.3 duplication syndrome" EXACT [DOID:0060432, Orphanet:217385] synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432] @@ -262615,6 +269436,7 @@ synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [OMIM:6 synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385] synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385] xref: DOID:0060432 {source="MONDO:equivalentTo"} +xref: GARD:17122 {source="Orphanet:217385"} xref: MESH:C567705 {source="MONDO:equivalentTo"} xref: OMIM:613215 {source="Orphanet:217385/e", source="DOID:0060432", source="MONDO:equivalentTo", source="Orphanet:217385"} xref: Orphanet:217385 {source="OMIM:613215", source="DOID:0060432", source="MONDO:equivalentTo"} @@ -262637,6 +269459,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013183 name: congenital stationary night blindness 1C def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15631"} synonym: "congenital stationary night blindness 1C" EXACT CLINGEN_PREFERRED [] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [DOID:0110867] synonym: "congenital stationary night blindness caused by mutation in TRPM1" EXACT [MONDO:design_pattern] @@ -262647,6 +269470,7 @@ synonym: "night blindness, congenital stationary (complete), 1C, autosomal reces synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical, OMIM:613216] synonym: "TRPM1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110867 {source="MONDO:equivalentTo"} +xref: GARD:15631 {source="OMIM:613216"} xref: MESH:C567704 {source="MONDO:equivalentTo"} xref: OMIM:613216 {source="DOID:0110867", source="MONDO:equivalentTo"} xref: UMLS:C2750747 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613216"} @@ -262663,6 +269487,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013184 name: congenital diarrhea 5 with tufting enteropathy def: "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." [Orphanet:92050] +subset: gard_rare {source="GARD:10630"} subset: ordo_disease {source="Orphanet:92050"} synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT CLINGEN_PREFERRED [] synonym: "congenital enteropathy" RELATED [GARD:0010630] @@ -262684,6 +269509,7 @@ synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pa synonym: "secretory diarrhoea caused by mutation in EPCAM" EXACT OMO:0003005 [] synonym: "tufting enteropathy" EXACT [DOID:0060776] xref: DOID:0060776 {source="MONDO:equivalentTo"} +xref: GARD:10630 {source="Orphanet:92050"} xref: ICD10CM:P78.3 {source="DOID:0060776", source="Orphanet:92050/attributed", source="Orphanet:92050/ntbt", source="Orphanet:92050"} xref: MESH:C567703 {source="MONDO:equivalentTo"} xref: OMIM:613217 {source="Orphanet:92050/e", source="DOID:0060776", source="MONDO:equivalentTo", source="Orphanet:92050"} @@ -262703,6 +269529,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013185 name: leprosy, susceptibility to, 5 def: "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15632"} subset: predisposition synonym: "leprosy caused by mutation in TLR1" EXACT [MONDO:design_pattern] synonym: "leprosy, protection against" RELATED [OMIM:613223] @@ -262711,6 +269538,7 @@ synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613223] synonym: "LPRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613223] synonym: "susceptibility to leprosy 5" RELATED [OMIM:613223] synonym: "TLR1 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15632 {source="OMIM:613223"} xref: OMIM:613223 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:613223"} xref: UMLS:C2750733 {source="OMIM:613223", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -262725,7 +269553,7 @@ property_value: confidence "3.6904762151629074" xsd:double id: MONDO:0013186 name: Noonan syndrome 6 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010701"} +subset: gard_rare {source="GARD:10701"} synonym: "Noonan syndrome 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613224] synonym: "Noonan syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 6" EXACT [DOID:0060584, MONDORULE:1, OMIM:613224] @@ -262733,6 +269561,7 @@ synonym: "NRAS gene related Noonan syndrome" RELATED [GARD:0010701] synonym: "NRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NS6" EXACT ABBREVIATION [DOID:0060584, MONDO:Lexical, OMIM:613224] xref: DOID:0060584 {source="MONDO:equivalentTo"} +xref: GARD:10701 {source="OMIM:613224"} xref: MESH:C548084 {source="MONDO:equivalentTo"} xref: NCIT:C176934 {source="MONDO:equivalentTo"} xref: OMIM:613224 {source="DOID:0060584", source="MONDO:equivalentTo"} @@ -262748,11 +269577,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10701/noonan [Term] id: MONDO:0013187 name: factor XIII, A subunit, deficiency of +subset: gard_rare {source="GARD:15633"} synonym: "factor XIII, A subunit, deficiency of" EXACT CLINGEN_PREFERRED [OMIM:613225] synonym: "factor XIIIA deficiency" EXACT [OMIM:613225, OMIM:genemap2] synonym: "hereditary factor XIII A subunit deficiency" EXACT [] synonym: "hereditary factor XIII alpha subunit deficiency" EXACT [] synonym: "hereditary factor XIII type II deficiency" EXACT [] +xref: GARD:15633 {source="OMIM:613225"} xref: MESH:C567691 {source="MONDO:equivalentTo"} xref: OMIM:613225 {source="MONDO:equivalentTo"} xref: Orphanet:331 {source="OMIM:613225"} @@ -262768,6 +269599,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013188 name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15634"} synonym: "CA8 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAMRQ3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613227] synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3" RELATED [OMIM:613227] @@ -262777,6 +269609,7 @@ synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrom synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:613227] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:613227] synonym: "dysequilibrium syndrome caused by mutation in CA8" EXACT [MONDO:design_pattern] +xref: GARD:15634 {source="OMIM:613227"} xref: MESH:C567690 {source="MONDO:equivalentTo"} xref: OMIM:613227 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:613227"} @@ -262810,8 +269643,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013190 name: factor XIII, b subunit, deficiency of +subset: gard_rare {source="GARD:15635"} synonym: "factor XIII, b subunit, deficiency of" EXACT CLINGEN_PREFERRED [OMIM:613235] synonym: "factor XIIIB deficiency" EXACT [OMIM:613235, OMIM:genemap2] +xref: GARD:15635 {source="OMIM:613235"} xref: MESH:C567688 {source="MONDO:equivalentTo"} xref: OMIM:613235 {source="MONDO:equivalentTo"} xref: Orphanet:331 {source="OMIM:613235"} @@ -262825,6 +269660,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013191 name: focal segmental glomerulosclerosis 5 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15636"} synonym: "focal segmental glomerulosclerosis 5" EXACT [MONDO:Lexical, OMIM:613237] synonym: "focal segmental glomerulosclerosis caused by mutation in INF2" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 5" EXACT [DOID:0111130, MONDORULE:1, OMIM:613237] @@ -262832,6 +269668,7 @@ synonym: "FSGS5" EXACT ABBREVIATION [DOID:0111130, MONDO:Lexical, OMIM:613237] synonym: "glomerulosclerosis, focal segmental, 5" RELATED [OMIM:613237] synonym: "INF2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111130 {source="MONDO:equivalentTo"} +xref: GARD:15636 {source="OMIM:613237"} xref: ICD10CM:N04.1 {source="DOID:0111130"} xref: MESH:C567687 {source="MONDO:equivalentTo"} xref: OMIM:613237 {source="MONDO:equivalentTo", source="DOID:0111130"} @@ -262857,12 +269694,14 @@ is_a: MONDO:0024512 {source="OMIM:613238"} ! spondyloarthropathy, susceptibility id: MONDO:0013193 name: thyrotoxic periodic paralysis, susceptibility to, 2 def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15637"} subset: predisposition synonym: "KCNJ18 thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thyrotoxic periodic paralysis caused by mutation in KCNJ18" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613239] synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613239] synonym: "TTPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613239] +xref: GARD:15637 {source="OMIM:613239"} xref: OMIM:613239 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:613239"} xref: UMLS:C2750473 {source="OMIM:613239", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -262912,11 +269751,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013196 name: Lynch syndrome 8 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15638"} synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613244] synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "HNPCC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613244] xref: DOID:0070270 {source="MONDO:equivalentTo"} +xref: GARD:15638 {source="OMIM:613244"} xref: MESH:C567685 {source="MONDO:equivalentTo"} xref: OMIM:613244 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:613244"} @@ -262958,6 +269799,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013198 name: dilated cardiomyopathy 1EE def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15639"} synonym: "cardiomyopathy, dilated, 1EE" RELATED [MONDO:Lexical, OMIM:613252] synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9, OMIM:613252] synonym: "CMD1EE" EXACT ABBREVIATION [DOID:0110453, MONDO:Lexical, OMIM:613252] @@ -262965,6 +269807,7 @@ synonym: "dilated cardiomyopathy type 1EE" EXACT [DOID:0110453, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "MYH6 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110453 {source="MONDO:equivalentTo"} +xref: GARD:15639 {source="OMIM:613252"} xref: ICD10CM:I42.0 {source="DOID:0110453"} xref: MESH:C567683 {source="MONDO:equivalentTo"} xref: OMIM:613252 {source="MONDO:equivalentTo", source="DOID:0110453"} @@ -262978,7 +269821,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013199 name: tuberous sclerosis 2 def: "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." [NCIT:C75331] -subset: gard_rare +subset: gard_rare {source="GARD:15640"} synonym: "TSC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613254] synonym: "TSC2 Angiomyolipomas, renal, modifier of" RELATED [OMIM:613254] synonym: "tuberous sclerosis 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613254] @@ -262986,6 +269829,7 @@ synonym: "tuberous sclerosis type 2" EXACT [MONDORULE:1, OMIM:613254] synonym: "tuberous sclerosis, type 2" RELATED [GARD:0005381] synonym: "tuberous sclerosis-2" EXACT [OMIM:613254, OMIM:genemap2] xref: DOID:0080325 {source="MONDO:equivalentTo"} +xref: GARD:15640 {source="OMIM:613254"} xref: MESH:C566021 {source="MONDO:equivalentTo"} xref: NCIT:C75331 {source="MONDO:equivalentTo"} xref: OMIM:613254 {source="MONDO:equivalentTo"} @@ -263027,6 +269871,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013201 name: Waardenburg syndrome type 4B def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +subset: gard_rare {source="GARD:15641"} synonym: "EDN3 Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome caused by mutation in EDN3" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type 4B" EXACT CLINGEN_PREFERRED [] @@ -263036,6 +269881,7 @@ synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical, OMIM:613265] synonym: "Waardenburg syndrome, type 4B, with Hirschsprung disease" RELATED [OMIM:613265] synonym: "WS4B" EXACT ABBREVIATION [DOID:0110954, MONDO:Lexical, OMIM:613265] xref: DOID:0110954 {source="MONDO:equivalentTo"} +xref: GARD:15641 {source="OMIM:613265"} xref: MESH:C567680 {source="MONDO:equivalentTo"} xref: OMIM:613265 {source="DOID:0110954", source="MONDO:equivalentTo"} xref: Orphanet:897 {source="OMIM:613265"} @@ -263052,6 +269898,7 @@ property_value: confidence "37.33333333333334" xsd:double id: MONDO:0013202 name: Waardenburg syndrome type 4C def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +subset: gard_rare {source="GARD:15642"} synonym: "Waardenburg syndrome type 4C" EXACT CLINGEN_PREFERRED [] synonym: "Waardenburg syndrome type IVC" EXACT [DOID:0110955] synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" EXACT [DOID:0110955] @@ -263059,6 +269906,7 @@ synonym: "Waardenburg syndrome with Hirschsprung disease, type 4C" RELATED [OMIM synonym: "Waardenburg syndrome, type 4C" RELATED [MONDO:Lexical, OMIM:613266] synonym: "WS4C" EXACT ABBREVIATION [DOID:0110955, MONDO:Lexical, OMIM:613266] xref: DOID:0110955 {source="MONDO:equivalentTo"} +xref: GARD:15642 {source="OMIM:613266"} xref: MESH:C567679 {source="MONDO:equivalentTo"} xref: OMIM:613266 {source="DOID:0110955", source="MONDO:equivalentTo"} xref: Orphanet:897 {source="OMIM:613266"} @@ -263073,6 +269921,7 @@ property_value: confidence "37.33333333333334" xsd:double id: MONDO:0013203 name: corneal dystrophy, Fuchs endothelial, 3 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18218"} synonym: "corneal dystrophy, Fuchs endothelial, 3" EXACT [MONDO:Lexical, OMIM:613267] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613267] synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1, OMIM:613267] @@ -263080,6 +269929,7 @@ synonym: "Fcd2 locus" RELATED [OMIM:613267] synonym: "FECD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613267] synonym: "Fuchs' endothelial dystrophy caused by mutation in TCF4" EXACT [MONDO:design_pattern] synonym: "TCF4 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18218 {source="OMIM:613267"} xref: MESH:C567678 {source="MONDO:equivalentTo"} xref: OMIM:613267 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613267"} @@ -263094,12 +269944,14 @@ property_value: confidence "4.749999999999999" xsd:double id: MONDO:0013204 name: corneal dystrophy, Fuchs endothelial, 4 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18219"} synonym: "corneal dystrophy, Fuchs endothelial, 4" EXACT [MONDO:Lexical, OMIM:613268] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613268] synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1, OMIM:613268] synonym: "FECD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613268] synonym: "Fuchs' endothelial dystrophy caused by mutation in SLC4A11" EXACT [MONDO:design_pattern] synonym: "SLC4A11 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18219 {source="OMIM:613268"} xref: MESH:C567677 {source="MONDO:equivalentTo"} xref: OMIM:613268 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613268"} @@ -263113,10 +269965,12 @@ property_value: confidence "4.749999999999999" xsd:double [Term] id: MONDO:0013205 name: corneal dystrophy, fuchs endothelial, 5 +subset: gard_rare {source="GARD:18220"} synonym: "corneal dystrophy, Fuchs endothelial, 5" RELATED [MONDO:Lexical, OMIM:613269] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613269] synonym: "Fcd3 locus" RELATED [OMIM:613269] synonym: "FECD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613269] +xref: GARD:18220 {source="OMIM:613269"} xref: MESH:C567676 {source="MONDO:equivalentTo"} xref: OMIM:613269 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613269"} @@ -263128,12 +269982,14 @@ property_value: confidence "4.749999999999999" xsd:double id: MONDO:0013206 name: corneal dystrophy, Fuchs endothelial, 6 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18221"} synonym: "corneal dystrophy, Fuchs endothelial, 6" EXACT [MONDO:Lexical, OMIM:613270] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613270] synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1, OMIM:613270] synonym: "FECD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613270] synonym: "Fuchs' endothelial dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] synonym: "ZEB1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18221 {source="OMIM:613270"} xref: MESH:C567675 {source="MONDO:equivalentTo"} xref: OMIM:613270 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613270"} @@ -263147,10 +270003,12 @@ property_value: confidence "4.749999999999999" xsd:double [Term] id: MONDO:0013207 name: corneal dystrophy, fuchs endothelial, 7 +subset: gard_rare {source="GARD:18222"} synonym: "corneal dystrophy, Fuchs endothelial, 7" RELATED [MONDO:Lexical, OMIM:613271] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613271] synonym: "Fcd4 locus" RELATED [OMIM:613271] synonym: "FECD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613271] +xref: GARD:18222 {source="OMIM:613271"} xref: MESH:C567674 {source="MONDO:equivalentTo"} xref: OMIM:613271 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613271"} @@ -263161,6 +270019,7 @@ property_value: confidence "4.749999999999999" xsd:double [Term] id: MONDO:0013208 name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome +subset: gard_rare {source="GARD:10706"} subset: ordo_disease {source="Orphanet:309854"} synonym: "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" EXACT CLINGEN_PREFERRED [] synonym: "HMDPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613280] @@ -263169,6 +270028,7 @@ synonym: "hypermanganesemia with dystonia 1" RELATED [OMIM:613280] synonym: "hypermanganesemia with dystonia polycythemia and cirrhosis" RELATED [GARD:0010706] synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical, OMIM:613280] xref: DOID:0080536 {source="MONDO:equivalentTo"} +xref: GARD:10706 {source="Orphanet:309854"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548016 {source="MONDO:equivalentTo"} xref: OMIM:613280 {source="Orphanet:309854/e", source="MONDO:equivalentTo", source="Orphanet:309854"} @@ -263218,6 +270078,7 @@ id: MONDO:0013210 name: autosomal recessive nonsyndromic hearing loss 25 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22632"} synonym: "autosomal recessive deafness 25" NARROW [DOID:0110483] synonym: "autosomal recessive nonsyndromic deafness 25" NARROW CLINGEN_PREFERRED [OMIM:613285] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" NARROW [MONDO:design_pattern] @@ -263227,6 +270088,7 @@ synonym: "deafness, autosomal recessive type 25" NARROW [MONDORULE:2, OMIM:61328 synonym: "DFNB25" NARROW ABBREVIATION [DOID:0110483, MONDO:Lexical, OMIM:613285] synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110483 {source="MONDO:equivalentTo"} +xref: GARD:22632 {source="OMIM:613285"} xref: ICD10CM:H90.3 {source="DOID:0110483"} xref: OMIM:613285 {source="MONDO:equivalentTo", source="DOID:0110483"} xref: Orphanet:90636 {source="OMIM:613285"} @@ -263242,11 +270104,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013211 name: dilated cardiomyopathy 1FF def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." [DOID:0110459, PMID:19590045] +subset: gard_rare {source="GARD:15643"} synonym: "cardiomyopathy, dilated, 1FF" RELATED [MONDO:Lexical, OMIM:613286] synonym: "cardiomyopathy, dilated, type 1Ff" EXACT [MONDORULE:9, OMIM:613286] synonym: "CMD1FF" EXACT ABBREVIATION [DOID:0110459, MONDO:Lexical, OMIM:613286] synonym: "dilated cardiomyopathy type 1FF" EXACT [DOID:0110459, MONDORULE:9] xref: DOID:0110459 {source="MONDO:equivalentTo"} +xref: GARD:15643 {source="OMIM:613286"} xref: ICD10CM:I42.0 {source="DOID:0110459"} xref: MESH:C567654 {source="MONDO:equivalentTo"} xref: OMIM:613286 {source="DOID:0110459", source="MONDO:equivalentTo"} @@ -263260,6 +270124,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013212 name: Charcot-Marie-Tooth disease axonal type 2N def: "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." [Orphanet:228174] +subset: gard_rare {source="GARD:12429"} subset: ordo_disease {source="Orphanet:228174"} synonym: "AARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] @@ -263272,6 +270137,7 @@ synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [DOID:0110177] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287] synonym: "CMT2N" EXACT ABBREVIATION [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174] xref: DOID:0110177 {source="MONDO:equivalentTo"} +xref: GARD:12429 {source="Orphanet:228174"} xref: ICD10CM:G60.0 {source="Orphanet:228174", source="Orphanet:228174/attributed", source="Orphanet:228174/ntbt", source="DOID:0110177"} xref: MESH:C567653 {source="MONDO:equivalentTo"} xref: OMIM:613287 {source="MONDO:equivalentTo", source="Orphanet:228174", source="DOID:0110177", source="Orphanet:228174/e"} @@ -263318,6 +270184,7 @@ id: MONDO:0013215 name: autosomal recessive nonsyndromic hearing loss 79 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22633"} synonym: "autosomal recessive deafness 79" NARROW [DOID:0110526] synonym: "autosomal recessive nonsyndromic deafness 79" NARROW CLINGEN_PREFERRED [OMIM:613307] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" NARROW [MONDO:design_pattern] @@ -263327,6 +270194,7 @@ synonym: "deafness, autosomal recessive type 79" NARROW [MONDORULE:2, OMIM:61330 synonym: "DFNB79" NARROW ABBREVIATION [DOID:0110526, MONDO:Lexical, OMIM:613307] synonym: "TPRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110526 {source="MONDO:equivalentTo"} +xref: GARD:22633 {source="OMIM:613307"} xref: ICD10CM:H90.3 {source="DOID:0110526"} xref: MESH:C567651 {source="MONDO:equivalentTo"} xref: OMIM:613307 {source="DOID:0110526", source="MONDO:equivalentTo"} @@ -263342,6 +270210,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013216 name: Diamond-Blackfan anemia 9 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15644"} synonym: "DBA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613308] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS10" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 9" EXACT OMO:0003005 [] @@ -263351,6 +270220,7 @@ synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308] synonym: "RPS10 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111884 {source="MONDO:equivalentTo"} +xref: GARD:15644 {source="OMIM:613308"} xref: MESH:C567650 {source="MONDO:equivalentTo"} xref: NCIT:C176918 {source="MONDO:equivalentTo"} xref: OMIM:613308 {source="MONDO:equivalentTo"} @@ -263365,6 +270235,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013217 name: Diamond-Blackfan anemia 10 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15645"} synonym: "DBA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613309] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS26" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 10" EXACT OMO:0003005 [] @@ -263374,6 +270245,7 @@ synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309] synonym: "RPS26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111888 {source="MONDO:equivalentTo"} +xref: GARD:15645 {source="OMIM:613309"} xref: MESH:C567649 {source="MONDO:equivalentTo"} xref: NCIT:C176919 {source="MONDO:equivalentTo"} xref: OMIM:613309 {source="MONDO:equivalentTo"} @@ -263387,12 +270259,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013218 name: exudative vitreoretinopathy 5 def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15646"} synonym: "EVR5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613310] synonym: "exudative vitreoretinopathy 5" EXACT [MONDO:Lexical, OMIM:613310] synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" EXACT [MONDO:design_pattern] synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1, OMIM:613310] synonym: "TSPAN12 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111408 {source="MONDO:equivalentTo"} +xref: GARD:15646 {source="OMIM:613310"} xref: MESH:C567648 {source="MONDO:equivalentTo"} xref: OMIM:613310 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:613310"} @@ -263409,11 +270283,13 @@ property_value: confidence "0.9347826086956526" xsd:double id: MONDO:0013219 name: hypophosphatemic rickets, autosomal recessive, 2 def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18417"} synonym: "ARHR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613312] synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1" EXACT [MONDO:design_pattern] synonym: "ENPP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypophosphatemic rickets, autosomal recessive, 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613312] synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:613312] +xref: GARD:18417 {source="OMIM:613312"} xref: MESH:C567647 {source="MONDO:equivalentTo"} xref: OMIM:613312 {source="MONDO:equivalentTo"} xref: Orphanet:289176 {source="OMIM:613312"} @@ -263432,11 +270308,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013220 name: hemochromatosis type 2B def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15647"} synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern] synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313] synonym: "HFE2B" EXACT ABBREVIATION [DOID:0111032, MONDO:Lexical, OMIM:613313] xref: DOID:0111032 {source="MONDO:equivalentTo"} +xref: GARD:15647 {source="OMIM:613313"} xref: MESH:C566557 {source="MONDO:equivalentTo"} xref: OMIM:613313 {source="MONDO:equivalentTo", source="DOID:0111032"} xref: Orphanet:79230 {source="OMIM:613313"} @@ -263451,11 +270329,13 @@ property_value: confidence "37.333333333333336" xsd:double [Term] id: MONDO:0013221 name: Miyoshi muscular dystrophy 2 +subset: gard_rare {source="GARD:15648"} synonym: "MIYOSHI muscular dystrophy 2" RELATED [OMIM:613318] synonym: "Miyoshi muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:613318] synonym: "Miyoshi myopathy 2" RELATED [OMIM:613318] synonym: "MMD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613318] xref: DOID:0070200 {source="MONDO:equivalentTo"} +xref: GARD:15648 {source="OMIM:613318"} xref: MESH:C567646 {source="MONDO:equivalentTo"} xref: OMIM:613318 {source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="OMIM:613318"} @@ -263467,6 +270347,7 @@ property_value: confidence "2.4105263157894736" xsd:double [Term] id: MONDO:0013222 name: Miyoshi muscular dystrophy 3 +subset: gard_rare {source="GARD:17653"} subset: ordo_disease {source="Orphanet:399096"} synonym: "distal anoctaminopathy" EXACT [Orphanet:399096] synonym: "Miyoshi muscular dystrophy 3" EXACT [MONDO:Lexical, OMIM:613319] @@ -263474,6 +270355,7 @@ synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Or synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319] synonym: "MMD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613319, Orphanet:399096] xref: DOID:0070201 {source="MONDO:equivalentTo"} +xref: GARD:17653 {source="Orphanet:399096"} xref: ICD10CM:G71.0 {source="Orphanet:399096/attributed", source="Orphanet:399096/ntbt", source="Orphanet:399096"} xref: MESH:C567645 {source="MONDO:equivalentTo"} xref: OMIM:613319 {source="Orphanet:399096/e", source="MONDO:equivalentTo", source="Orphanet:399096"} @@ -263488,6 +270370,7 @@ property_value: confidence "0.20000000000000018" xsd:double id: MONDO:0013223 name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type def: "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17667"} subset: ordo_malformation_syndrome {source="Orphanet:401979"} synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [Orphanet:401979] synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [OMIM:613320] @@ -263497,6 +270380,7 @@ synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT [] synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [OMIM:613320, OMIM:genemap2] synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320] xref: DOID:0112304 {source="MONDO:equivalentTo"} +xref: GARD:17667 {source="Orphanet:401979"} xref: ICD10CM:Q77.8 {source="Orphanet:401979", source="Orphanet:401979/attributed", source="Orphanet:401979/ntbt"} xref: MESH:C567644 {source="MONDO:equivalentTo"} xref: OMIM:613320 {source="MONDO:equivalentTo", source="Orphanet:401979", source="Orphanet:401979/e"} @@ -263516,6 +270400,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013224 name: rhabdoid tumor predisposition syndrome 2 def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18319"} synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] synonym: "familial rhabdoid tumour caused by mutation in SMARCA4" EXACT OMO:0003005 [] synonym: "rhabdoid tumor predisposition syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613325] @@ -263524,6 +270409,7 @@ synonym: "rhabdoid tumour predisposition syndrome type 2" EXACT OMO:0003005 [] synonym: "RTPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613325] synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCA4 familial rhabdoid tumour" EXACT OMO:0003005 [] +xref: GARD:18319 {source="OMIM:613325"} xref: MESH:C567643 {source="MONDO:equivalentTo"} xref: NCIT:C178394 {source="MONDO:equivalentTo"} xref: OMIM:613325 {source="MONDO:equivalentTo"} @@ -263541,6 +270427,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0013225 name: congenital generalized lipodystrophy type 4 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10937"} subset: ordo_disease {source="Orphanet:228429"} synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [DOID:0111138] synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327] @@ -263559,6 +270446,7 @@ synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:011113 synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327] synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327] xref: DOID:0111138 {source="MONDO:equivalentTo"} +xref: GARD:10937 {source="OMIM:613327"} xref: ICD10CM:E88.1 {source="DOID:0111138", source="Orphanet:228429/attributed", source="Orphanet:228429/ntbt", source="Orphanet:228429"} xref: MESH:C567642 {source="MONDO:equivalentTo"} xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="MONDO:equivalentTo", source="Orphanet:228429/e"} @@ -263580,11 +270468,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013226 name: combined immunodeficiency with faciooculoskeletal anomalies def: "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." [Orphanet:221139] +subset: gard_rare {source="GARD:17139"} subset: ordo_disease {source="Orphanet:221139"} synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [OMIM:613328] synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328] synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139] synonym: "Roifman-Chitayat syndrome, digenic" EXACT [OMIM:613328, OMIM:genemap2] +xref: GARD:17139 {source="Orphanet:221139"} xref: ICD10CM:Q87.8 {source="Orphanet:221139", source="Orphanet:221139/attributed", source="Orphanet:221139/ntbt"} xref: MESH:C567641 {source="MONDO:equivalentTo"} xref: OMIM:613328 {source="MONDO:equivalentTo", source="Orphanet:221139", source="Orphanet:221139/e"} @@ -263605,12 +270495,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013227 name: congenital plasminogen activator inhibitor type 1 deficiency def: "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." [Orphanet:465] +subset: gard_rare {source="GARD:4381"} subset: ordo_disease {source="Orphanet:465"} synonym: "congenital PAI-1 deficiency" EXACT [Orphanet:465] synonym: "congenital plasminogen activator inhibitor type 1 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329] synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381] synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329] +xref: GARD:4381 {source="Orphanet:465"} xref: ICD10CM:D68.8 {source="Orphanet:465/attributed", source="Orphanet:465/ntbt", source="Orphanet:465"} xref: MESH:C567640 {source="MONDO:equivalentTo"} xref: NCIT:C133884 {source="MONDO:equivalentTo"} @@ -263629,9 +270521,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013228 name: spondylo-megaepiphyseal-metaphyseal dysplasia +subset: gard_rare {source="GARD:17154"} subset: ordo_disease {source="Orphanet:228387"} synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613330] synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613330] +xref: GARD:17154 {source="Orphanet:228387"} xref: ICD10CM:Q77.7 {source="Orphanet:228387/attributed", source="Orphanet:228387/ntbt", source="Orphanet:228387"} xref: MESH:C567639 {source="MONDO:equivalentTo"} xref: OMIM:613330 {source="Orphanet:228387/e", source="MONDO:equivalentTo", source="Orphanet:228387"} @@ -263647,12 +270541,14 @@ id: MONDO:0013229 name: hot water reflex epilepsy def: "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases." [Orphanet:166412] comment: Editor note: TODO add ECTO +subset: gard_rare {source="GARD:17028"} subset: ordo_disease {source="Orphanet:166412"} synonym: "bathing epilepsy" RELATED [OMIM:613339] synonym: "epilepsy, hot water" EXACT [MONDO:0000028] synonym: "hot water epilepsy" EXACT [OMIMPS:613339] synonym: "water immersion epilepsy" RELATED [OMIM:613339] xref: DOID:0081104 {source="MONDO:equivalentTo"} +xref: GARD:17028 {source="Orphanet:166412"} xref: ICD10CM:G40.8 {source="Orphanet:166412", source="Orphanet:166412/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:613339 {source="MONDO:equivalentTo"} @@ -263666,9 +270562,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613339"} ! inheri [Term] id: MONDO:0013230 name: epilepsy, hot water, 2 +subset: gard_rare {source="GARD:18287"} synonym: "epilepsy, hot water, 2" EXACT [MONDO:Lexical, OMIM:613340] synonym: "HWE2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613340] xref: DOID:0081107 {source="MONDO:equivalentTo"} +xref: GARD:18287 {source="OMIM:613340"} xref: OMIM:613340 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="OMIM:613340"} xref: UMLS:C3150536 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613340"} @@ -263679,7 +270577,7 @@ property_value: confidence "1.6470588235294117" xsd:double id: MONDO:0013231 name: Leber congenital amaurosis 14 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010883"} +subset: gard_rare {source="GARD:10883"} synonym: "LCA14" EXACT ABBREVIATION [DOID:0110188, MONDO:Lexical, OMIM:613341] synonym: "Leber congenital amaurosis 14" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613341] synonym: "Leber congenital amaurosis caused by mutation in LRAT" EXACT [MONDO:design_pattern] @@ -263690,6 +270588,7 @@ synonym: "retinal dystrophy, early-onset Severe, LRAT-related" RELATED [OMIM:613 synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:613341, OMIM:genemap2] synonym: "retinitis pigmentosa, juvenile, LRAT-related" RELATED [OMIM:613341] xref: DOID:0110188 {source="MONDO:equivalentTo"} +xref: GARD:10883 {source="OMIM:613341"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110188"} xref: MESH:C567636 {source="MONDO:equivalentTo"} xref: OMIM:613341 {source="MONDO:equivalentTo", source="DOID:0110188"} @@ -263710,11 +270609,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10883/leber- id: MONDO:0013232 name: brachydactylous dwarfism, Mseleni type def: "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." [Orphanet:2619] +subset: gard_rare {source="GARD:960"} subset: ordo_disease {source="Orphanet:2619"} synonym: "brachydactylous dwarfism Mseleni type" RELATED [GARD:0000960] synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960] synonym: "Mseleni JOINT disease" RELATED [OMIM:613342] synonym: "Mseleni joint disease" EXACT [Orphanet:2619] +xref: GARD:960 {source="Orphanet:2619"} xref: ICD10CM:Q77.7 {source="Orphanet:2619/attributed", source="Orphanet:2619/ntbt", source="Orphanet:2619"} xref: MESH:C537086 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: OMIM:613342 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} @@ -263729,10 +270630,12 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0013233 name: spondyloepimetaphyseal dysplasia, Handigodu type def: "A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." [https://orcid.org/0000-0001-5208-3432, Orphanet:99642] +subset: gard_rare {source="GARD:10741"} subset: ordo_disease {source="Orphanet:99642"} synonym: "Handigodu JOINT disease" RELATED [OMIM:613343] synonym: "Hjd" RELATED [OMIM:613343] synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343] +xref: GARD:10741 {source="Orphanet:99642"} xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="Orphanet:99642/attributed", source="Orphanet:99642/ntbt"} xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="Orphanet:99642/e"} xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"} @@ -263744,8 +270647,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013234 name: hypokalemic periodic paralysis, type 2 +subset: gard_rare {source="GARD:15649"} synonym: "HOKPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613345] synonym: "hypokalemic periodic paralysis, type 2" EXACT [MONDO:Lexical, OMIM:613345] +xref: GARD:15649 {source="OMIM:613345"} xref: MESH:C567635 {source="MONDO:equivalentTo"} xref: OMIM:613345 {source="MONDO:equivalentTo"} xref: Orphanet:681 {source="OMIM:613345"} @@ -263758,6 +270663,7 @@ property_value: confidence "0.47058823529411753" xsd:double id: MONDO:0013235 name: pancreatic cancer, susceptibility to, 2 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15650"} subset: predisposition synonym: "BRCA2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial pancreatic carcinoma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] @@ -263766,6 +270672,7 @@ synonym: "pancreatic cancer, susceptibility to, 2" EXACT [OMIM:613347] synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613347] synonym: "Pnca2" RELATED [OMIM:613347] synonym: "susceptibility to pancreatic cancer 2" RELATED [OMIM:613347] +xref: GARD:15650 {source="OMIM:613347"} xref: OMIM:613347 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:613347"} xref: UMLS:C3150546 {source="OMIM:613347", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -263780,6 +270687,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013236 name: pancreatic cancer, susceptibility to, 3 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15651"} subset: predisposition synonym: "familial pancreatic carcinoma caused by mutation in PALB2" EXACT [MONDO:design_pattern] synonym: "PALB2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -263787,6 +270695,7 @@ synonym: "pancreatic cancer, susceptibility to, 3" EXACT [OMIM:613348] synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613348] synonym: "Pnca3" RELATED [OMIM:613348] synonym: "susceptibility to pancreatic cancer 3" RELATED [OMIM:613348] +xref: GARD:15651 {source="OMIM:613348"} xref: OMIM:613348 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:613348"} xref: UMLS:C3150547 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613348"} @@ -263813,6 +270722,7 @@ property_value: confidence "5.000000000000001" xsd:double id: MONDO:0013238 name: chromosome 17q23.1-q23.2 deletion syndrome def: "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." [Orphanet:261279] +subset: gard_rare {source="GARD:10936"} subset: ordo_malformation_syndrome {source="Orphanet:261279"} synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279] synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405] @@ -263822,6 +270732,7 @@ synonym: "Del(17)(q23.1q23.2)" EXACT [Orphanet:261279] synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279] synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279] xref: DOID:0060405 {source="MONDO:equivalentTo"} +xref: GARD:10936 {source="Orphanet:261279"} xref: ICD10CM:Q93.5 {source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/attributed", source="Orphanet:261279/ntbt"} xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/e"} xref: Orphanet:261279 {source="OMIM:613355", source="MONDO:equivalentTo", source="DOID:0060405"} @@ -263841,6 +270752,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013239 name: hereditary spastic paraplegia 41 def: "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." [Orphanet:320355] +subset: gard_rare {source="GARD:17471"} subset: ordo_disease {source="Orphanet:320355"} synonym: "autosomal dominant spastic paraplegia 41" EXACT [DOID:0110793] synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793] @@ -263848,6 +270760,7 @@ synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE: synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364] synonym: "SPG41" EXACT ABBREVIATION [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355] xref: DOID:0110793 {source="MONDO:equivalentTo"} +xref: GARD:17471 {source="Orphanet:320355"} xref: ICD10CM:G11.4 {source="Orphanet:320355/attributed", source="Orphanet:320355/ntbt", source="Orphanet:320355", source="DOID:0110793"} xref: OMIM:613364 {source="Orphanet:320355", source="MONDO:equivalentTo", source="Orphanet:320355/e", source="DOID:0110793"} xref: Orphanet:320355 {source="OMIM:613364", source="MONDO:equivalentTo", source="DOID:0110793"} @@ -263863,11 +270776,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013240 name: maturity-onset diabetes of the young type 10 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15652"} synonym: "INS maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in INS" EXACT [] synonym: "maturity-onset diabetes of the young, type 10" RELATED [MONDO:Lexical, OMIM:613370] synonym: "MODY10" EXACT ABBREVIATION [DOID:0111108, MONDO:Lexical, OMIM:613370] xref: DOID:0111108 {source="MONDO:equivalentTo"} +xref: GARD:15652 {source="OMIM:613370"} xref: OMIM:613370 {source="DOID:0111108", source="MONDO:equivalentTo"} xref: SCTID:609577006 {source="MONDO:equivalentTo"} xref: UMLS:C3150617 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613370"} @@ -263881,12 +270796,13 @@ property_value: confidence "3.0" xsd:double id: MONDO:0013241 name: spinocerebellar ataxia type 30 def: "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." [Orphanet:211017] -subset: gard_rare +subset: gard_rare {source="GARD:4950"} subset: ordo_disease {source="Orphanet:211017"} synonym: "SCA30" EXACT ABBREVIATION [GARD:0004950, MONDO:Lexical, OMIM:613371, Orphanet:211017] synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371] synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950] xref: DOID:0050979 {source="MONDO:equivalentTo"} +xref: GARD:4950 {source="Orphanet:211017"} xref: ICD10CM:G11.2 {source="Orphanet:211017", source="Orphanet:211017/attributed", source="Orphanet:211017/ntbt"} xref: MESH:C537206 {source="MONDO:relatedTo", source="Orphanet:211017", source="Orphanet:211017/e"} xref: MESH:C575214 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} @@ -263902,11 +270818,13 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0013242 name: maturity-onset diabetes of the young type 11 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15653"} synonym: "BLK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in BLK" EXACT [] synonym: "maturity-onset diabetes of the young, type 11" RELATED [MONDO:Lexical, OMIM:613375] synonym: "MODY11" EXACT ABBREVIATION [DOID:0111109, MONDO:Lexical, OMIM:613375] xref: DOID:0111109 {source="MONDO:equivalentTo"} +xref: GARD:15653 {source="OMIM:613375"} xref: OMIM:613375 {source="DOID:0111109", source="MONDO:equivalentTo"} xref: Orphanet:552 {source="OMIM:613375"} xref: SCTID:609578001 {source="MONDO:equivalentTo"} @@ -263921,6 +270839,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0013243 name: neuronopathy, distal hereditary motor, type 2C def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18264"} synonym: "HMN 2C" RELATED [OMIM:613376] synonym: "HMN2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613376] synonym: "HSPB3 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -263928,6 +270847,7 @@ synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB3" EXA synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical, OMIM:613376] synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [OMIM:613376] xref: DOID:0111209 {source="MONDO:equivalentTo"} +xref: GARD:18264 {source="OMIM:613376"} xref: OMIM:613376 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="OMIM:613376"} xref: UMLS:C3150619 {source="OMIM:613376", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -263942,12 +270862,14 @@ property_value: confidence "0.519607843137255" xsd:double id: MONDO:0013244 name: brachydactyly type E2 def: "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15654"} synonym: "BDE2" EXACT ABBREVIATION [DOID:0110976, MONDO:Lexical, OMIM:613382] synonym: "brachydactyly type E caused by mutation in PTHLH" EXACT [MONDO:design_pattern] synonym: "brachydactyly type E2" EXACT CLINGEN_PREFERRED [] synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical, OMIM:613382] synonym: "PTHLH brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110976 {source="MONDO:equivalentTo"} +xref: GARD:15654 {source="OMIM:613382"} xref: OMIM:613382 {source="DOID:0110976", source="MONDO:equivalentTo"} xref: Orphanet:93387 {source="OMIM:613382"} xref: UMLS:C3150644 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613382"} @@ -263961,7 +270883,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013245 name: syndromic multisystem autoimmune disease due to ITCH deficiency -subset: gard_rare +subset: gard_rare {source="GARD:10775"} subset: ordo_disease {source="Orphanet:228426"} synonym: "ADMFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613385] synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385] @@ -263969,6 +270891,7 @@ synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775] synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:10775 {source="Orphanet:228426"} xref: OMIM:613385 {source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo", source="Orphanet:228426/e"} xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"} xref: UMLS:C3150649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613385"} @@ -264002,12 +270925,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013247 name: Fanconi renotubular syndrome 2 def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15655"} synonym: "Fanconi renotubular syndrome 2" EXACT [MONDO:Lexical, OMIM:613388] synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1, OMIM:613388] synonym: "Fanconi syndrome caused by mutation in SLC34A1" EXACT [MONDO:design_pattern] synonym: "FRTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613388] synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080758 {source="MONDO:equivalentTo"} +xref: GARD:15655 {source="OMIM:613388"} xref: OMIM:613388 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="OMIM:613388"} xref: UMLS:C3150652 {source="OMIM:613388", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264022,6 +270947,7 @@ property_value: confidence "1.382352941176471" xsd:double id: MONDO:0013248 name: Fanconi anemia complementation group O def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15656"} synonym: "FANCO" EXACT ABBREVIATION [DOID:0111096, MONDO:Lexical, OMIM:613390] synonym: "Fanconi anaemia caused by mutation in RAD51C" EXACT OMO:0003005 [] synonym: "Fanconi anaemia caused by mutation in Rad51C" EXACT OMO:0003005 [] @@ -264036,6 +270962,7 @@ synonym: "Rad51C Fanconi anaemia" EXACT OMO:0003005 [] synonym: "RAD51C Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Rad51C Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111096 {source="MONDO:equivalentTo"} +xref: GARD:15656 {source="OMIM:613390"} xref: OMIM:613390 {source="DOID:0111096", source="MONDO:equivalentTo"} xref: UMLS:C3150653 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613390"} is_a: MONDO:0019391 {source="DC-OMIM:613390", source="DOID:0111096", source="MONDO:Redundant", source="OMIM:613390"} ! Fanconi anemia @@ -264048,6 +270975,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0013249 name: autosomal recessive nonsyndromic hearing loss 84A def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22634"} synonym: "autosomal recessive deafness 84A" NARROW [DOID:0110529] synonym: "autosomal recessive deafness 84A with vestibular dysfunction" NARROW [DOID:0110529] synonym: "autosomal recessive nonsyndromic deafness 84A" NARROW CLINGEN_PREFERRED [OMIM:613391] @@ -264061,6 +270989,7 @@ synonym: "deafness, autosomal recessive type 84A" NARROW [MONDORULE:4, OMIM:6133 synonym: "DFNB84A" NARROW ABBREVIATION [DOID:0110529, MONDO:Lexical, OMIM:613391] synonym: "PTPRQ autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110529 {source="MONDO:equivalentTo"} +xref: GARD:22634 {source="OMIM:613391"} xref: ICD10CM:H90.3 {source="DOID:0110529"} xref: OMIM:613391 {source="DOID:0110529", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:613391"} @@ -264076,12 +271005,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013250 name: autosomal recessive nonsyndromic hearing loss 85 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." [DOID:0110531, PMID:19888295] +subset: gard_rare {source="GARD:22635"} synonym: "autosomal recessive deafness 85" NARROW [DOID:0110531] synonym: "autosomal recessive nonsyndromic deafness 85" NARROW [OMIM:613392] synonym: "autosomal recessive nonsyndromic deafness type 85" NARROW [DOID:0110531, MONDORULE:2] synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical, OMIM:613392, OMIM:genemap2] synonym: "DFNB85" NARROW ABBREVIATION [DOID:0110531, MONDO:Lexical, OMIM:613392] xref: DOID:0110531 {source="MONDO:equivalentTo"} +xref: GARD:22635 {source="OMIM:613392"} xref: ICD10CM:H90.3 {source="DOID:0110531"} xref: OMIM:613392 {source="MONDO:equivalentTo", source="DOID:0110531"} xref: UMLS:C3160740 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613392"} @@ -264104,11 +271035,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013252 name: Warsaw breakage syndrome def: "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." [DOID:0060535, PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203] +subset: gard_rare {source="GARD:13708"} subset: ordo_malformation_syndrome {source="Orphanet:280558"} synonym: "WABS" EXACT ABBREVIATION [DOID:0060535, MONDO:Lexical, OMIM:613398, Orphanet:280558] synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398] synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398] xref: DOID:0060535 {source="MONDO:equivalentTo"} +xref: GARD:13708 {source="Orphanet:280558"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C164675 {source="MONDO:equivalentTo"} xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="Orphanet:280558/e", source="DOID:0060535"} @@ -264127,6 +271060,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013253 name: breast-ovarian cancer, familial, susceptibility to, 3 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15657"} subset: predisposition synonym: "breast cancer, familial, susceptibility to, 3" RELATED [OMIM:613399] synonym: "breast-ovarian cancer, familial, susceptibility to, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613399] @@ -264138,6 +271072,7 @@ synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [OMIM:613399] synonym: "RAD51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Rad51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [OMIM:613399] +xref: GARD:15657 {source="OMIM:613399"} xref: OMIM:613399 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:613399"} xref: Orphanet:227535 {source="OMIM:613399"} @@ -264156,7 +271091,7 @@ property_value: confidence "0.30029721079103755" xsd:double [Term] id: MONDO:0013254 name: microcephaly, seizures, and developmental delay -subset: gard_rare {source="GARD:0010933"} +subset: gard_rare {source="GARD:10933"} synonym: "early infantile epileptic encephalopathy-10" RELATED [GARD:0010933] synonym: "EIEE10" RELATED ABBREVIATION [GARD:0010933] synonym: "epileptic encephalopathy, early infantile, 10" RELATED [OMIM:613402] @@ -264164,6 +271099,7 @@ synonym: "MCSZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613402] synonym: "microcephaly - seizures - developmental delay" RELATED [GARD:0010933] synonym: "microcephaly, seizures, and developmental delay" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613402] xref: DOID:0080457 {source="MONDO:equivalentTo"} +xref: GARD:10933 {source="OMIM:613402"} xref: OMIM:613402 {source="MONDO:equivalentTo"} xref: Orphanet:228418 {source="MONDO:equivalentObsolete", source="GARD:0010933"} xref: UMLS:C3150667 {source="OMIM:613402", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264178,12 +271114,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10933/microc id: MONDO:0013255 name: arthrogryposis, renal dysfunction, and cholestasis 2 def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15658"} synonym: "ARCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613404] synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613404] synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1, OMIM:613404] synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39" EXACT [MONDO:design_pattern] synonym: "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111354 {source="MONDO:equivalentTo"} +xref: GARD:15658 {source="OMIM:613404"} xref: OMIM:613404 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:613404"} xref: UMLS:C3150672 {source="MONDO:equivalentTo", source="OMIM:613404", source="MONDO:ncbi_mim2gene_medline"} @@ -264197,6 +271135,7 @@ property_value: confidence "2.2936507936507926" xsd:double id: MONDO:0013256 name: chromosome 15q24 deletion syndrome def: "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." [Orphanet:94065] +subset: gard_rare {source="GARD:12219"} subset: ordo_malformation_syndrome {source="Orphanet:94065"} synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785] synonym: "15q24 recurrent microdeletion syndrome" EXACT [DECIPHER:66] @@ -264208,6 +271147,7 @@ synonym: "WITKOS" RELATED ABBREVIATION [OMIM:613406] synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406] xref: DECIPHER:66 {source="MONDO:equivalentTo"} xref: DOID:0060395 {source="MONDO:equivalentTo"} +xref: GARD:12219 {source="Orphanet:94065"} xref: ICD10CM:Q93.5 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/attributed", source="Orphanet:94065/ntbt"} xref: MESH:C579849 {source="DOID:0060395", source="MONDO:equivalentTo"} xref: OMIM:613406 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/ntbt", source="MONDO:equivalentTo"} @@ -264232,9 +271172,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013257 name: leprosy, susceptibility to, 6 +subset: gard_rare {source="GARD:15659"} subset: predisposition synonym: "leprosy, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613407] synonym: "LPRS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613407] +xref: GARD:15659 {source="OMIM:613407"} xref: OMIM:613407 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:613407"} xref: UMLS:C3150676 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613407"} @@ -264270,6 +271212,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013259 name: Oguchi disease-2 def: "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15660"} synonym: "congenital stationary night blindness Oguchi type 2" EXACT [DOID:0110713] synonym: "CSNBO2" EXACT ABBREVIATION [DOID:0110713] synonym: "GRK1 Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -264278,6 +271221,7 @@ synonym: "Oguchi disease 2" RELATED [OMIM:613411] synonym: "Oguchi disease caused by mutation in GRK1" EXACT [MONDO:design_pattern] synonym: "Oguchi disease type 2" EXACT [MONDORULE:1, OMIM:613411] xref: DOID:0110713 {source="MONDO:equivalentTo"} +xref: GARD:15660 {source="OMIM:613411"} xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="OMIM:613411"} xref: UMLS:C3150678 {source="OMIM:613411", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264305,6 +271249,7 @@ property_value: confidence "1.094356261022928" xsd:double id: MONDO:0013261 name: dilated cardiomyopathy 1R def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15661"} synonym: "ACTC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical, OMIM:613424] synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4, OMIM:613424] @@ -264313,6 +271258,7 @@ synonym: "dilated cardiomyopathy type 1R" EXACT [DOID:0110456, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 4" RELATED [OMIM:613424] xref: DOID:0110456 {source="MONDO:equivalentTo"} +xref: GARD:15661 {source="OMIM:613424"} xref: ICD10CM:I42.0 {source="DOID:0110456"} xref: OMIM:613424 {source="DOID:0110456", source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:613424"} @@ -264326,7 +271272,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013262 name: dilated cardiomyopathy 1S def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0012832"} +subset: gard_rare {source="GARD:12832"} synonym: "cardiomyopathy, dilated, 1S" RELATED [GARD:0012832, MONDO:Lexical, OMIM:613426] synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4, OMIM:613426] synonym: "CMD1S" EXACT ABBREVIATION [DOID:0110454, MONDO:Lexical, OMIM:613426] @@ -264336,6 +271282,7 @@ synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH7" E synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832, OMIM:613426] synonym: "MYH7 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110454 {source="MONDO:equivalentTo"} +xref: GARD:12832 {source="OMIM:613426"} xref: ICD10CM:I42.0 {source="DOID:0110454"} xref: MESH:C563538 {source="MONDO:equivalentTo"} xref: OMIM:613426 {source="MONDO:equivalentTo", source="DOID:0110454"} @@ -264351,12 +271298,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12832/dilate id: MONDO:0013263 name: retinitis pigmentosa 54 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15662"} synonym: "PCARE retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 54" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613428] synonym: "retinitis pigmentosa caused by mutation in PCARE" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 54" EXACT [DOID:0110364, MONDORULE:2, OMIM:613428] synonym: "RP54" EXACT ABBREVIATION [DOID:0110364, MONDO:Lexical, OMIM:613428] xref: DOID:0110364 {source="MONDO:equivalentTo"} +xref: GARD:15662 {source="OMIM:613428"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110364"} xref: OMIM:613428 {source="MONDO:equivalentTo", source="DOID:0110364"} xref: UMLS:C3150691 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613428"} @@ -264372,6 +271321,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013264 name: amyotrophic lateral sclerosis type 12 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15663"} synonym: "ALS12" EXACT ABBREVIATION [DOID:0060203, MONDO:Lexical, OMIM:613435] synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435] synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [OMIM:613435, OMIM:genemap2] @@ -264379,6 +271329,7 @@ synonym: "amyotrophic lateral sclerosis caused by mutation in OPTN" EXACT [MONDO synonym: "amyotrophic lateral sclerosis type 12" EXACT [MONDORULE:2, OMIM:613435] synonym: "OPTN amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060203 {source="MONDO:equivalentTo"} +xref: GARD:15663 {source="OMIM:613435"} xref: OMIM:613435 {source="MONDO:equivalentTo", source="DOID:0060203"} xref: Orphanet:803 {source="OMIM:613435"} xref: UMLS:C3150692 {source="OMIM:613435", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264442,6 +271393,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013267 name: distal 16p11.2 microdeletion syndrome def: "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." [Orphanet:261222] +subset: gard_rare {source="GARD:17244"} subset: ordo_malformation_syndrome {source="Orphanet:261222"} synonym: "body mass index QTL16" EXACT [OMIM:613444, OMIM:genemap2] synonym: "body Mass index quantitative trait locus 16" RELATED [OMIM:613444] @@ -264453,6 +271405,7 @@ synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222] synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222] synonym: "obesity, susceptibility to" RELATED [OMIM:613444] xref: DOID:0060398 {source="MONDO:equivalentTo"} +xref: GARD:17244 {source="Orphanet:261222"} xref: ICD10CM:Q93.5 {source="DOID:0060398", source="Orphanet:261222", source="Orphanet:261222/attributed", source="Orphanet:261222/ntbt"} xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="Orphanet:261222/e"} xref: Orphanet:261222 {source="DOID:0060398", source="OMIM:613444", source="MONDO:equivalentTo"} @@ -264473,7 +271426,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013268 name: frontonasal dysplasia with alopecia and genital anomaly def: "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." [Orphanet:228390] -subset: gard_rare {source="GARD:0012641"} +subset: gard_rare {source="GARD:12641"} subset: ordo_malformation_syndrome {source="Orphanet:228390"} synonym: "ALX4-related FNDAG" EXACT [Orphanet:228390] synonym: "craniofrontonasal dysplasia with alopecia and hypogonadism" EXACT [Orphanet:228390] @@ -264482,6 +271435,7 @@ synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451] synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451] synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390] xref: DOID:0081046 {source="MONDO:equivalentTo"} +xref: GARD:12641 {source="Orphanet:228390"} xref: ICD10CM:Q87.0 {source="Orphanet:228390/attributed", source="Orphanet:228390/ntbt", source="Orphanet:228390"} xref: OMIM:613451 {source="Orphanet:228390", source="MONDO:equivalentTo", source="Orphanet:228390/e"} xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"} @@ -264500,6 +271454,7 @@ id: MONDO:0013269 name: autosomal recessive nonsyndromic hearing loss 91 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22636"} synonym: "autosomal recessive deafness 91" NARROW [DOID:0110536] synonym: "autosomal recessive nonsyndromic deafness 91" NARROW CLINGEN_PREFERRED [OMIM:613453] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" NARROW [MONDO:design_pattern] @@ -264509,6 +271464,7 @@ synonym: "deafness, autosomal recessive type 91" NARROW [MONDORULE:2, OMIM:61345 synonym: "DFNB91" NARROW ABBREVIATION [DOID:0110536, MONDO:Lexical, OMIM:613453] synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110536 {source="MONDO:equivalentTo"} +xref: GARD:22636 {source="OMIM:613453"} xref: ICD10CM:H90.3 {source="DOID:0110536"} xref: OMIM:613453 {source="DOID:0110536", source="MONDO:equivalentTo"} xref: UMLS:C3150704 {source="OMIM:613453", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264522,7 +271478,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013270 name: Rett syndrome, congenital variant +subset: gard_rare {source="GARD:15664"} synonym: "Rett syndrome, congenital variant" EXACT [OMIM:613454] +xref: GARD:15664 {source="OMIM:613454"} xref: NCIT:C176903 {source="MONDO:equivalentTo"} xref: OMIM:613454 {source="MONDO:equivalentTo"} xref: Orphanet:3095 {source="OMIM:613454"} @@ -264536,13 +271494,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013271 name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome -subset: gard_rare {source="GARD:0012640"} +subset: gard_rare {source="GARD:12640"} subset: ordo_malformation_syndrome {source="Orphanet:306542"} synonym: "ALX1-related frontonasal dysplasia" EXACT [Orphanet:306542] synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456] xref: DOID:0081047 {source="MONDO:equivalentTo"} +xref: GARD:12640 {source="Orphanet:306542"} xref: OMIM:613456 {source="Orphanet:306542/e", source="MONDO:equivalentTo", source="Orphanet:306542"} xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"} xref: UMLS:C3150706 {source="OMIM:613456", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264556,6 +271515,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12640/fronto id: MONDO:0013272 name: chromosome 14q11-q22 deletion syndrome def: "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." [Orphanet:261120] +subset: gard_rare {source="GARD:17241"} subset: ordo_malformation_syndrome {source="Orphanet:261120"} synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392] synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [OMIM:613457] @@ -264563,6 +271523,7 @@ synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [OMIM:61 synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120] synonym: "monosomy 14q11.2" EXACT [Orphanet:261120] xref: DOID:0060392 {source="MONDO:equivalentTo"} +xref: GARD:17241 {source="Orphanet:261120"} xref: ICD10CM:Q93.5 {source="Orphanet:261120/attributed", source="Orphanet:261120/ntbt", source="Orphanet:261120"} xref: OMIM:613457 {source="Orphanet:261120", source="MONDO:equivalentTo", source="Orphanet:261120/e", source="DOID:0060392"} xref: Orphanet:261120 {source="OMIM:613457", source="MONDO:equivalentTo", source="DOID:0060392"} @@ -264582,7 +271543,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013273 name: chromosome 16p13.3 duplication syndrome def: "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems." [Orphanet:96078] -subset: gard_rare +subset: gard_rare {source="GARD:10755"} subset: ordo_malformation_syndrome {source="Orphanet:96078"} synonym: "16p13.3 duplication" RELATED [GARD:0010755] synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431] @@ -264596,6 +271557,7 @@ synonym: "interstitial 16p13.3 duplication" RELATED [GARD:0010755] synonym: "telomeric duplication 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "trisomy 16pter" EXACT [Orphanet:96078] xref: DOID:0060431 {source="MONDO:equivalentTo"} +xref: GARD:10755 {source="Orphanet:96078"} xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="Orphanet:96078/e", source="GARD:0010755"} xref: Orphanet:96078 {source="DOID:0060431", source="MONDO:equivalentTo", source="OMIM:613458", source="GARD:0010755"} xref: SCTID:733473000 {source="MONDO:equivalentTo"} @@ -264613,12 +271575,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10755/chromo id: MONDO:0013274 name: retinitis pigmentosa 51 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15665"} synonym: "retinitis pigmentosa 51" EXACT [MONDO:Lexical, OMIM:613464] synonym: "retinitis pigmentosa caused by mutation in TTC8" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 51" EXACT [DOID:0110398, MONDORULE:2, OMIM:613464] synonym: "RP51" EXACT ABBREVIATION [DOID:0110398, MONDO:Lexical, OMIM:613464] synonym: "TTC8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110398 {source="MONDO:equivalentTo"} +xref: GARD:15665 {source="OMIM:613464"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110398"} xref: OMIM:613464 {source="MONDO:equivalentTo", source="DOID:0110398"} xref: UMLS:C3150715 {source="OMIM:613464", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264629,10 +271593,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013275 name: hemolytic anemia due to glucophosphate isomerase deficiency def: "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." [Orphanet:712] -subset: gard_rare +subset: gard_rare {source="GARD:16541"} subset: ordo_disease {source="Orphanet:712"} synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502] synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470] +xref: GARD:16541 {source="Orphanet:712"} xref: ICD10CM:D55.2 {source="Orphanet:712/attributed", source="Orphanet:712/ntbt", source="Orphanet:712"} xref: OMIM:613470 {source="Orphanet:712", source="MONDO:equivalentTo", source="Orphanet:712/e"} xref: Orphanet:712 {source="MONDO:equivalentTo", source="OMIM:613470"} @@ -264650,11 +271615,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013276 name: Reynolds syndrome def: "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." [https://orcid.org/0000-0001-5208-3432, Orphanet:779] -subset: gard_rare {source="GARD:0004697"} +subset: gard_rare {source="GARD:4697"} subset: ordo_disease {source="Orphanet:779"} synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:779] synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471] synonym: "Reynolds syndrome" EXACT [OMIM:613471] +xref: GARD:4697 {source="Orphanet:779"} xref: ICD10CM:K74.3 {source="Orphanet:779", source="Orphanet:779/nd"} xref: ICD10CM:L94.0 {source="Orphanet:779", source="Orphanet:779/nd"} xref: OMIM:613471 {source="Orphanet:779", source="MONDO:equivalentTo", source="Orphanet:779/e"} @@ -264672,6 +271638,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4697/reynold id: MONDO:0013277 name: developmental and epileptic encephalopathy, 5 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12949"} synonym: "DEE5" EXACT ABBREVIATION [OMIM:613477] synonym: "developmental and epileptic encephalopathy 5" EXACT [OMIM:613477, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern] @@ -264680,6 +271647,7 @@ synonym: "epileptic encephalopathy, early infantile, 5" EXACT [MONDO:Lexical, OM synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1, OMIM:613477] synonym: "SPTAN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080438 {source="MONDO:equivalentTo"} +xref: GARD:12949 {source="OMIM:613477"} xref: OMIM:613477 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:613477"} xref: UMLS:C3150731 {source="OMIM:613477", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264695,6 +271663,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013278 name: lymphatic malformation 3 def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16456"} synonym: "GJC2 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary lymphedema caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "LMPH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613480] @@ -264702,6 +271671,7 @@ synonym: "lymphedema, hereditary, 1C" EXACT [OMIM:613480] synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical, OMIM:613480] synonym: "lymphedema, hereditary, type 1C" EXACT [MONDORULE:4, OMIM:613480] xref: DOID:0070208 {source="MONDO:equivalentTo"} +xref: GARD:16456 {source="OMIM:613480"} xref: OMIM:613480 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:613480"} xref: UMLS:C3150732 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613480"} @@ -264715,12 +271685,14 @@ property_value: confidence "2.599999999999999" xsd:double id: MONDO:0013279 name: long QT syndrome 13 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15666"} synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485] synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485] synonym: "LQT13" EXACT ABBREVIATION [DOID:0110654, MONDO:Lexical, OMIM:613485] xref: DOID:0110654 {source="MONDO:equivalentTo"} +xref: GARD:15666 {source="OMIM:613485"} xref: ICD10CM:I45.8 {source="DOID:0110654"} xref: OMIM:613485 {source="DOID:0110654", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:613485", source="MONDO:directSiblingOf"} @@ -264737,6 +271709,7 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0013280 name: myxoid liposarcoma def: "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." [NCIT:C27781] +subset: gard_rare {source="GARD:15667"} synonym: "mixed-type liposarcoma" RELATED [DOID:5709] synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, NCIT:C3735, OMIM:613488] synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [DOID:5363] @@ -264745,6 +271718,7 @@ synonym: "Myxoliposarcoma" RELATED [GARD:0007157] xref: DOID:5363 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000613"} xref: DOID:5709 {source="MONDO:equivalentTo"} xref: EFO:0000613 {source="MONDO:equivalentTo"} +xref: GARD:15667 {source="OMIM:613488"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8852/3 {source="NCIT:C27781"} xref: MESH:D018208 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"} @@ -264766,6 +271740,7 @@ property_value: confidence "0.6458333333333333" xsd:double id: MONDO:0013281 name: COG4-congenital disorder of glycosylation def: "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." [Orphanet:263501] +subset: gard_rare {source="GARD:12412"} subset: ordo_disease {source="Orphanet:263501"} synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [Orphanet:263501] synonym: "CDG IIj" RELATED [OMIM:613489] @@ -264779,6 +271754,7 @@ synonym: "congenital disorder of glycosylation type 2j" EXACT [Orphanet:263501] synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501] synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489] xref: DOID:0070262 {source="MONDO:equivalentTo"} +xref: GARD:12412 {source="Orphanet:263501"} xref: ICD10CM:E77.8 {source="Orphanet:263501", source="Orphanet:263501/attributed", source="Orphanet:263501/ntbt"} xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="Orphanet:263501/e"} xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"} @@ -264797,7 +271773,7 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0013282 name: alpha 1-antitrypsin deficiency def: "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." [Orphanet:60] -subset: gard_rare {source="GARD:0005784"} +subset: gard_rare {source="GARD:5784"} subset: ordo_disease {source="Orphanet:60"} synonym: "A-1ATD" EXACT [NCIT:C84397] synonym: "A1AD" EXACT ABBREVIATION [NCIT:C84397] @@ -264815,6 +271791,7 @@ synonym: "emphysema due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [OMIM:613490, OMIM:genemap2] xref: DOID:13372 {source="MONDO:equivalentTo"} +xref: GARD:5784 {source="Orphanet:60"} xref: ICD10CM:E88.0 {source="Orphanet:60/inclusion", source="Orphanet:60/ntbt", source="Orphanet:60"} xref: ICD10CM:E88.01 {source="DOID:13372", source="MONDO:equivalentTo"} xref: ICD9:273.4 {source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -264843,11 +271820,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5784/alpha-1 [Term] id: MONDO:0013283 name: immunodeficiency, common variable, 3 +subset: gard_rare {source="GARD:15668"} synonym: "antibody deficiency due to CD19 defect" RELATED [OMIM:613493] synonym: "CVID3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613493] synonym: "immunodeficiency, common variable, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613493] synonym: "immunodeficiency, common variable, type 3" EXACT [MONDORULE:1, OMIM:613493] xref: DOID:0081146 {source="MONDO:equivalentTo"} +xref: GARD:15668 {source="OMIM:613493"} xref: OMIM:613493 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613493"} xref: UMLS:C3150738 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613493"} @@ -264857,11 +271836,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013284 name: immunodeficiency, common variable, 4 +subset: gard_rare {source="GARD:15669"} synonym: "antibody deficiency due to Baffr defect" RELATED [OMIM:613494] synonym: "CVID4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613494] synonym: "immunodeficiency, common variable, 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613494] synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1, OMIM:613494] xref: DOID:0081147 {source="MONDO:equivalentTo"} +xref: GARD:15669 {source="OMIM:613494"} xref: OMIM:613494 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613494"} xref: UMLS:C3150739 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613494"} @@ -264872,6 +271853,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013285 name: immunodeficiency, common variable, 5 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15670"} synonym: "antibody deficiency due to CD20 defect" RELATED [OMIM:613495] synonym: "common variable immunodeficiency caused by mutation in MS4A1" EXACT [MONDO:design_pattern] synonym: "CVID5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613495] @@ -264879,6 +271861,7 @@ synonym: "immunodeficiency, common variable, 5" EXACT [MONDO:Lexical, OMIM:61349 synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1, OMIM:613495] synonym: "MS4A1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081148 {source="MONDO:equivalentTo"} +xref: GARD:15670 {source="OMIM:613495"} xref: OMIM:613495 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613495"} xref: UMLS:C3150740 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613495"} @@ -264891,6 +271874,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013286 name: immunodeficiency, common variable, 6 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15671"} synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496] synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern] @@ -264898,6 +271882,7 @@ synonym: "CVID6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1, OMIM:613496] xref: DOID:0081149 {source="MONDO:equivalentTo"} +xref: GARD:15671 {source="OMIM:613496"} xref: OMIM:613496 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613496"} xref: UMLS:C3150741 {source="OMIM:613496", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -264910,6 +271895,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013287 name: agammaglobulinemia 2, autosomal recessive def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15672"} synonym: "agammaglobulinemia 2, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613500] synonym: "agammaglobulinemia, autosomal recessive, due to IGLL1 defect" EXACT [OMIM:613500] synonym: "AGM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613500] @@ -264918,6 +271904,7 @@ synonym: "IGLL1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO synonym: "lambda 5 deficiency" EXACT [MONDO:0000581] xref: DOID:0060024 {source="MONDO:equivalentTo"} xref: DOID:0081135 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:15672 {source="OMIM:613500"} xref: OMIM:613500 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613500"} xref: Orphanet:33110 {source="OMIM:613500"} @@ -264934,12 +271921,14 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0013288 name: agammaglobulinemia 3, autosomal recessive def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15673"} synonym: "agammaglobulinemia 3, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613501] synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [OMIM:613501] synonym: "AGM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613501] synonym: "autosomal agammaglobulinemia caused by mutation in CD79A" EXACT [MONDO:design_pattern] synonym: "CD79A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081137 {source="MONDO:equivalentTo"} +xref: GARD:15673 {source="OMIM:613501"} xref: OMIM:613501 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613501"} xref: Orphanet:33110 {source="OMIM:613501"} @@ -264955,12 +271944,14 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0013289 name: agammaglobulinemia 4, autosomal recessive def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15674"} synonym: "agammaglobulinemia 4" EXACT [OMIM:613502, OMIM:genemap2] synonym: "agammaglobulinemia 4, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613502] synonym: "agammaglobulinemia, autosomal recessive, due to Blnk defect" RELATED [OMIM:613502] synonym: "AGM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613502] synonym: "autosomal agammaglobulinemia caused by mutation in BLNK" EXACT [MONDO:design_pattern] synonym: "BLNK autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15674 {source="OMIM:613502"} xref: OMIM:613502 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613502"} xref: Orphanet:33110 {source="OMIM:613502"} @@ -264977,6 +271968,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013290 name: agammaglobulinemia 5, autosomal dominant def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15675"} synonym: "agammaglobulinemia 5" EXACT [OMIM:613506, OMIM:genemap2] synonym: "agammaglobulinemia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613506] synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [OMIM:613506] @@ -264984,6 +271976,7 @@ synonym: "AGM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613506] synonym: "autosomal agammaglobulinemia caused by mutation in LRRC8A" EXACT [MONDO:design_pattern] synonym: "LRRC8A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080588 {source="MONDO:equivalentTo"} +xref: GARD:15675 {source="OMIM:613506"} xref: OMIM:613506 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613506"} xref: Orphanet:33110 {source="OMIM:613506"} @@ -265000,6 +271993,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013291 name: glycogen storage disease XV def: "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." [Orphanet:263297] +subset: gard_rare {source="GARD:17254"} subset: ordo_disease {source="Orphanet:263297"} synonym: "glycogen storage disease 15" RELATED [OMIM:613507] synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, OMIM:613507, Orphanet:263297] @@ -265017,6 +272011,7 @@ synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Or synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613507] synonym: "Gyg1 deficiency" RELATED [OMIM:613507] xref: DOID:0050579 {source="MONDO:equivalentTo"} +xref: GARD:17254 {source="Orphanet:263297"} xref: ICD10CM:E74.0 {source="Orphanet:263297", source="Orphanet:263297/attributed", source="Orphanet:263297/ntbt"} xref: OMIM:613507 {source="Orphanet:263297", source="DOID:0050579", source="MONDO:equivalentTo", source="Orphanet:263297/e"} xref: Orphanet:263297 {source="MONDO:equivalentTo", source="OMIM:613507"} @@ -265033,6 +272028,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013292 name: chromosome 4q21 deletion syndrome def: "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." [Orphanet:238750] +subset: gard_rare {source="GARD:17181"} subset: ordo_malformation_syndrome {source="Orphanet:238750"} synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420] synonym: "chromosome 4q21 deletion syndrome" EXACT [OMIM:613509] @@ -265040,6 +272036,7 @@ synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [OMIM:613509, synonym: "Del(4)(q21)" EXACT [Orphanet:238750] synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750] xref: DOID:0060420 {source="MONDO:equivalentTo"} +xref: GARD:17181 {source="Orphanet:238750"} xref: ICD10CM:Q93.5 {source="Orphanet:238750/attributed", source="Orphanet:238750/ntbt", source="Orphanet:238750"} xref: OMIM:613509 {source="DOID:0060420", source="Orphanet:238750/e", source="MONDO:equivalentTo", source="Orphanet:238750"} xref: Orphanet:238750 {source="DOID:0060420", source="MONDO:equivalentTo", source="OMIM:613509"} @@ -265058,6 +272055,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013293 name: isolated microphthalmia 6 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18628"} synonym: "isolated microphthalmia caused by mutation in PRSS56" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 6" EXACT [DOID:0060835, MONDORULE:1] synonym: "MCOP6" EXACT ABBREVIATION [DOID:0060835, MONDO:Lexical, OMIM:613517] @@ -265067,6 +272065,7 @@ synonym: "microphthalmia, posterior nonsyndromic" RELATED [OMIM:613517] synonym: "posterior nonsyndromic microphthalmia" EXACT [DOID:0060835] synonym: "PRSS56 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060835 {source="MONDO:equivalentTo"} +xref: GARD:18628 {source="OMIM:613517"} xref: ICD10CM:Q11.0 {source="DOID:0060835"} xref: OMIM:613517 {source="MONDO:equivalentTo", source="DOID:0060835"} xref: Orphanet:2542 {source="DOID:0060835", source="OMIM:613517"} @@ -265116,6 +272115,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013296 name: myeloid neoplasm associated with FGFR1 rearrangement def: "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." [NCIT:C84277] +subset: gard_rare {source="GARD:17043"} subset: ordo_disease {source="Orphanet:168953"} synonym: "8p11 myeloproliferative syndrome" EXACT [NCIT:C84277, Orphanet:168953] synonym: "8p11 stem cell leukemia/lymphoma syndrome" EXACT [NCIT:C84277] @@ -265126,6 +272126,7 @@ synonym: "myeloid and lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C synonym: "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" RELATED [Orphanet:168953] synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277] synonym: "stem cell leukemia/lymphoma" EXACT [OMIM:613523, Orphanet:168953] +xref: GARD:17043 {source="Orphanet:168953"} xref: ICD10CM:D47.1 {source="Orphanet:168953", source="Orphanet:168953/ntbt"} xref: ICDO:9967/3 {source="NCIT:C84277"} xref: NCIT:C84277 {source="MONDO:equivalentTo"} @@ -265141,12 +272142,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013297 name: autosomal dominant limb-girdle muscular dystrophy type 1H def: "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." [Orphanet:238755] +subset: gard_rare {source="GARD:12532"} subset: ordo_disease {source="Orphanet:238755"} synonym: "LGMD1H" EXACT ABBREVIATION [DOID:0110303, MONDO:Lexical, OMIM:613530, Orphanet:238755] synonym: "limb-girdle muscular dystrophy type 1H" RELATED [GARD:0012532] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303] synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530] xref: DOID:0110303 {source="MONDO:equivalentTo"} +xref: GARD:12532 {source="Orphanet:238755"} xref: ICD10CM:G71.0 {source="DOID:0110303", source="Orphanet:238755/attributed", source="Orphanet:238755/ntbt", source="Orphanet:238755"} xref: OMIM:613530 {source="DOID:0110303", source="Orphanet:238755", source="MONDO:equivalentTo", source="Orphanet:238755/e"} xref: Orphanet:238755 {source="DOID:0110303", source="OMIM:613530", source="MONDO:equivalentTo"} @@ -265158,12 +272161,14 @@ property_value: confidence "16.991071428571427" xsd:double id: MONDO:0013298 name: chromosome 17q21.31 duplication syndrome def: "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." [Orphanet:217340] +subset: gard_rare {source="GARD:17121"} subset: ordo_malformation_syndrome {source="Orphanet:217340"} synonym: "17q21.31 microduplication syndrome" EXACT [DOID:0060434, Orphanet:217340] synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533] synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340] synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340] xref: DOID:0060434 {source="MONDO:equivalentTo"} +xref: GARD:17121 {source="Orphanet:217340"} xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="Orphanet:217340/e"} xref: Orphanet:217340 {source="OMIM:613533", source="MONDO:equivalentTo", source="DOID:0060434"} xref: SCTID:716683005 {source="MONDO:equivalentTo"} @@ -265202,12 +272207,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013300 name: commissural facial cleft def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265] +subset: gard_rare {source="GARD:16975"} subset: ordo_morphological_anomaly {source="Orphanet:141276"} synonym: "commissural cleft, isolated" RELATED [OMIM:613545] synonym: "lateral cleft, isolated" RELATED [OMIM:613545] synonym: "macrostomia" EXACT [Orphanet:141276] synonym: "macrostomia, isolated" RELATED [OMIM:613545] synonym: "transverse cleft, isolated" RELATED [OMIM:613545] +xref: GARD:16975 {source="Orphanet:141276"} xref: ICD10CM:Q18.4 {source="Orphanet:141276/attributed", source="Orphanet:141276/ntbt", source="Orphanet:141276"} xref: ICD9:744.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008265 {source="MONDO:equivalentTo"} @@ -265226,12 +272233,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013301 name: aromatase deficiency def: "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." [Orphanet:91] -subset: gard_rare {source="GARD:0000365"} +subset: gard_rare {source="GARD:365"} subset: ordo_disease {source="Orphanet:91"} synonym: "aromatase deficiency" EXACT [OMIM:613546] synonym: "congenital estrogen deficiency" EXACT [Orphanet:91] synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 [] synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] +xref: GARD:365 {source="Orphanet:91"} xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"} xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: NCIT:C120144 {source="MONDO:equivalentTo"} @@ -265252,10 +272260,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/365/aromatas id: MONDO:0013302 name: nephronophthisis 11 def: "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." [DOID:0111118, PMID:19508969] +subset: gard_rare {source="GARD:18080"} synonym: "nephronophthisis 11" EXACT [MONDO:Lexical, OMIM:613550] synonym: "nephronophthisis type 11" EXACT [DOID:0111118, MONDORULE:2, OMIM:613550] synonym: "NPHP11" EXACT ABBREVIATION [DOID:0111118, MONDO:Lexical, OMIM:613550] xref: DOID:0111118 {source="MONDO:equivalentTo"} +xref: GARD:18080 {source="OMIM:613550"} xref: OMIM:613550 {source="DOID:0111118", source="MONDO:equivalentTo"} xref: Orphanet:84081 {source="OMIM:613550"} xref: UMLS:C3150796 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613550"} @@ -265291,6 +272301,7 @@ property_value: confidence "2.692307692307693" xsd:double id: MONDO:0013304 name: von Willebrand disease 2 def: "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166081] +subset: gard_rare {source="GARD:17020"} subset: ordo_clinical_subtype {source="Orphanet:166081"} synonym: "von Willebrand disease 2" EXACT CLINGEN_PREFERRED [] synonym: "von Willebrand disease type 2" EXACT [DOID:0060574] @@ -265308,6 +272319,7 @@ synonym: "VWD type 2" EXACT [DOID:0060574] synonym: "VWD, type 2" RELATED [OMIM:613554] synonym: "VWD2" EXACT ABBREVIATION [DOID:0060574, MONDO:Lexical, OMIM:613554] xref: DOID:0060574 {source="MONDO:equivalentTo"} +xref: GARD:17020 {source="Orphanet:166081"} xref: ICD10CM:D68.0 {source="Orphanet:166081/attributed", source="Orphanet:166081/ntbt", source="Orphanet:166081"} xref: MESH:D056728 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} xref: OMIM:613554 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} @@ -265332,6 +272344,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013305 name: autosomal dominant nonsyndromic hearing loss 51 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." [DOID:0110577, PMID:20602916] +subset: gard_rare {source="GARD:18133"} synonym: "autosomal dominant deafness 51" NARROW [DOID:0110577] synonym: "autosomal dominant nonsyndromic deafness 51" NARROW [OMIM:613558] synonym: "autosomal dominant nonsyndromic deafness type 51" NARROW [DOID:0110577, MONDORULE:2] @@ -265341,6 +272354,7 @@ synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical, OMIM:613558, O synonym: "deafness, autosomal dominant type 51" NARROW [MONDORULE:2, OMIM:613558] synonym: "DFNA51" NARROW ABBREVIATION [DOID:0110577, MONDO:Lexical, OMIM:613558] xref: DOID:0110577 {source="MONDO:equivalentTo"} +xref: GARD:18133 {source="OMIM:613558"} xref: ICD10CM:H90.3 {source="DOID:0110577"} xref: OMIM:613558 {source="DOID:0110577", source="MONDO:equivalentTo"} xref: UMLS:C3160736 {source="MONDO:equivalentTo", source="OMIM:613558", source="MONDO:ncbi_mim2gene_medline"} @@ -265352,6 +272366,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013306 name: combined oxidative phosphorylation defect type 7 def: "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." [Orphanet:254930] +subset: gard_rare {source="GARD:17234"} subset: ordo_disease {source="Orphanet:254930"} synonym: "C12ORF65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:patterns/disease_series_by_gene] @@ -265363,6 +272378,7 @@ synonym: "COXPD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613559, Orphanet:25493 synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930] synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930] xref: DOID:0111487 {source="MONDO:equivalentTo"} +xref: GARD:17234 {source="Orphanet:254930"} xref: ICD10CM:G31.8 {source="Orphanet:254930", source="Orphanet:254930/attributed", source="Orphanet:254930/ntbt"} xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="Orphanet:254930/e"} xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"} @@ -265377,6 +272393,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013307 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15676"} synonym: "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern] synonym: "MLASA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613561] @@ -265386,6 +272403,7 @@ synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MON synonym: "YARS2 mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111186 {source="MONDO:equivalentTo"} +xref: GARD:15676 {source="OMIM:613561"} xref: OMIM:613561 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:613561"} xref: UMLS:C3150802 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613561"} @@ -265399,6 +272417,7 @@ property_value: confidence "2.0694736842105272" xsd:double id: MONDO:0013308 name: CBL-related disorder def: "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." [PMID:20619386, PMID:21901340, PMID:24458550, PMID:25283271, PMID:25358541, PMID:25952305, PMID:26911351, PMID:28343148, PMID:28414188, PMID:28589114, PMID:29259247] +subset: gard_rare {source="GARD:17577"} subset: ordo_malformation_syndrome {source="Orphanet:363972"} synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563] synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972] @@ -265410,6 +272429,7 @@ synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563] synonym: "Noonan-like syndrome" EXACT [] synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563] +xref: GARD:17577 {source="Orphanet:363972"} xref: ICD10CM:Q87.1 {source="Orphanet:363972", source="Orphanet:363972/attributed", source="Orphanet:363972/ntbt"} xref: OMIM:613563 {source="MONDO:equivalentTo", source="Orphanet:363972", source="Orphanet:363972/e"} xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"} @@ -265437,7 +272457,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013310 name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency def: "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." [Orphanet:95699] -subset: gard_rare {source="GARD:0012664"} +subset: gard_rare {source="GARD:12664"} subset: ordo_disease {source="Orphanet:95699"} synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571] synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [Orphanet:95699] @@ -265447,6 +272467,7 @@ synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571 synonym: "POR deficiency" EXACT [Orphanet:95699] synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699] xref: DOID:0080925 {source="MONDO:equivalentTo"} +xref: GARD:12664 {source="Orphanet:95699"} xref: ICD10CM:E25.0 {source="Orphanet:95699", source="Orphanet:95699/attributed", source="Orphanet:95699/ntbt"} xref: NCIT:C174439 {source="MONDO:equivalentTo"} xref: OMIM:613571 {source="MONDO:equivalentTo", source="Orphanet:95699", source="Orphanet:95699/e"} @@ -265470,12 +272491,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12664/congen id: MONDO:0013311 name: ectodermal dysplasia-syndactyly syndrome def: "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." [Orphanet:247820] +subset: gard_rare {source="GARD:17198"} subset: ordo_malformation_syndrome {source="Orphanet:247820"} subset: prototype_pattern synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OMIM:613573] synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573] synonym: "EDSS" EXACT ABBREVIATION [Orphanet:247820] synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613573, Orphanet:247820] +xref: GARD:17198 {source="Orphanet:247820"} xref: ICD10CM:Q82.8 {source="Orphanet:247820", source="Orphanet:247820/attributed", source="Orphanet:247820/ntbt"} xref: OMIMPS:613573 {source="MONDO:equivalentTo"} xref: Orphanet:247820 {source="OMIM:613573", source="MONDO:equivalentTo"} @@ -265489,12 +272512,14 @@ property_value: confidence "9.0" xsd:double id: MONDO:0013312 name: retinitis pigmentosa 55 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15677"} synonym: "ARL6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 55" EXACT [MONDO:Lexical, OMIM:613575] synonym: "retinitis pigmentosa caused by mutation in ARL6" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 55" EXACT [DOID:0110370, MONDORULE:2, OMIM:613575] synonym: "RP55" EXACT ABBREVIATION [DOID:0110370, MONDO:Lexical, OMIM:613575] xref: DOID:0110370 {source="MONDO:equivalentTo"} +xref: GARD:15677 {source="OMIM:613575"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110370"} xref: OMIM:613575 {source="DOID:0110370", source="MONDO:equivalentTo"} xref: UMLS:C3150808 {source="OMIM:613575", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -265504,10 +272529,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013313 name: ectodermal dysplasia-cutaneous syndactyly syndrome +subset: gard_rare {source="GARD:17199"} subset: ordo_malformation_syndrome {source="Orphanet:247827"} synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576] synonym: "EDCS" EXACT ABBREVIATION [Orphanet:247827] synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576, Orphanet:247827] +xref: GARD:17199 {source="Orphanet:247827"} xref: ICD10CM:Q82.8 {source="Orphanet:247827/attributed", source="Orphanet:247827/ntbt", source="Orphanet:247827"} xref: OMIM:613576 {source="Orphanet:247827/e", source="MONDO:equivalentTo", source="Orphanet:247827"} xref: Orphanet:247827 {source="OMIM:613576", source="MONDO:equivalentTo"} @@ -265519,6 +272546,7 @@ property_value: confidence "6.5" xsd:double id: MONDO:0013314 name: retinitis pigmentosa 56 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15678"} synonym: "IMPG2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "maculopathy, Impg2-related" RELATED [OMIM:613581] synonym: "retinitis pigmentosa 56" EXACT [MONDO:Lexical, OMIM:613581] @@ -265526,6 +272554,7 @@ synonym: "retinitis pigmentosa caused by mutation in IMPG2" EXACT [MONDO:design_ synonym: "retinitis pigmentosa type 56" EXACT [DOID:0110371, MONDORULE:2, OMIM:613581] synonym: "RP56" EXACT ABBREVIATION [DOID:0110371, MONDO:Lexical, OMIM:613581] xref: DOID:0110371 {source="MONDO:equivalentTo"} +xref: GARD:15678 {source="OMIM:613581"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110371"} xref: OMIM:613581 {source="MONDO:equivalentTo", source="DOID:0110371"} xref: Orphanet:791 {source="OMIM:613581"} @@ -265540,12 +272569,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013315 name: retinitis pigmentosa 57 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15679"} synonym: "PDE6G retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 57" EXACT [MONDO:Lexical, OMIM:613582] synonym: "retinitis pigmentosa caused by mutation in PDE6G" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 57" EXACT [DOID:0110407, MONDORULE:2, OMIM:613582] synonym: "RP57" EXACT ABBREVIATION [DOID:0110407, MONDO:Lexical, OMIM:613582] xref: DOID:0110407 {source="MONDO:equivalentTo"} +xref: GARD:15679 {source="OMIM:613582"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110407"} xref: OMIM:613582 {source="MONDO:equivalentTo", source="DOID:0110407"} xref: Orphanet:791 {source="OMIM:613582"} @@ -265559,12 +272590,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013316 name: occult macular dystrophy def: "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." [Orphanet:247834] +subset: gard_rare {source="GARD:17200"} subset: ordo_disease {source="Orphanet:247834"} synonym: "occult macular dystrophy" EXACT [MONDO:Lexical, OMIM:613587] synonym: "OCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613587, Orphanet:247834] synonym: "OMD" EXACT ABBREVIATION [Orphanet:247834] synonym: "Omd" RELATED [OMIM:613587] xref: DOID:0050578 {source="MONDO:equivalentTo"} +xref: GARD:17200 {source="Orphanet:247834"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"} xref: OMIM:613587 {source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834", source="Orphanet:247834/e"} xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"} @@ -265580,8 +272613,10 @@ property_value: confidence "3.6875" xsd:double id: MONDO:0013317 name: torsade-de-pointes syndrome with short coupling interval def: "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." [Orphanet:51084] +subset: gard_rare {source="GARD:16651"} subset: ordo_disease {source="Orphanet:51084"} synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600] +xref: GARD:16651 {source="Orphanet:51084"} xref: ICD10CM:I49.8 {source="Orphanet:51084/attributed", source="Orphanet:51084/ntbt", source="Orphanet:51084"} xref: OMIM:613600 {source="Orphanet:51084/e", source="MONDO:equivalentTo", source="Orphanet:51084"} xref: Orphanet:51084 {source="OMIM:613600", source="MONDO:equivalentTo"} @@ -265612,6 +272647,7 @@ is_a: MONDO:0016955 {source="https://orcid.org/0000-0002-4142-7153"} ! partial d id: MONDO:0013320 name: chromosome 16p12.2-p11.2 deletion syndrome def: "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261211] +subset: gard_rare {source="GARD:17243"} subset: ordo_malformation_syndrome {source="Orphanet:261211"} synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DECIPHER:68, DOID:0060400, Orphanet:261211] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400] @@ -265622,6 +272658,7 @@ synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211] synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211] xref: DECIPHER:68 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: DOID:0060400 {source="MONDO:equivalentTo"} +xref: GARD:17243 {source="Orphanet:261211"} xref: ICD10CM:Q93.5 {source="DOID:0060400", source="Orphanet:261211", source="Orphanet:261211/attributed", source="Orphanet:261211/ntbt"} xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="Orphanet:261211/e"} xref: Orphanet:261211 {source="DOID:0060400", source="MONDO:equivalentTo", source="OMIM:613604"} @@ -265651,10 +272688,12 @@ is_a: MONDO:0003847 {source="OMIM:613606/inferred"} ! hereditary disease [Term] id: MONDO:0013322 name: epilepsy, familial adult myoclonic, 3 +subset: gard_rare {source="GARD:18084"} synonym: "cortical myoclonic tremor with epilepsy, familial, 3" RELATED [OMIM:613608] synonym: "epilepsy, familial ADULT myoclonic, 3" RELATED [MONDO:Lexical, OMIM:613608] synonym: "FAME3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613608] xref: DOID:0111695 {source="MONDO:equivalentTo"} +xref: GARD:18084 {source="OMIM:613608"} xref: MESH:C567098 {source="MONDO:equivalentTo"} xref: OMIM:613608 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:613608"} @@ -265667,6 +272706,7 @@ property_value: confidence "0.11978947957783914" xsd:double id: MONDO:0013323 name: cranioectodermal dysplasia 2 def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15680"} synonym: "CED2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613610] synonym: "CRANIOECTODERMAL dysplasia 2" RELATED [OMIM:613610] synonym: "cranioectodermal dysplasia 2" EXACT [MONDO:Lexical, OMIM:613610] @@ -265674,6 +272714,7 @@ synonym: "cranioectodermal dysplasia caused by mutation in WDR35" EXACT [MONDO:d synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613610] synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080804 {source="MONDO:equivalentTo"} +xref: GARD:15680 {source="OMIM:613610"} xref: OMIM:613610 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:613610"} xref: UMLS:C3150874 {source="OMIM:613610", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -265687,9 +272728,11 @@ property_value: confidence "2.47142857142857" xsd:double [Term] id: MONDO:0013324 name: lymphedema-posterior choanal atresia syndrome +subset: gard_rare {source="GARD:16898"} subset: ordo_malformation_syndrome {source="Orphanet:99141"} synonym: "CATLPH" RELATED ABBREVIATION [OMIM:613611] synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611] +xref: GARD:16898 {source="Orphanet:99141"} xref: ICD10CM:Q82.0 {source="Orphanet:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"} xref: OMIM:613611 {source="Orphanet:99141/e", source="MONDO:equivalentTo", source="Orphanet:99141"} xref: Orphanet:99141 {source="MONDO:equivalentTo"} @@ -265704,7 +272747,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013325 name: COG5-congenital disorder of glycosylation def: "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." [Orphanet:263487] -subset: gard_rare +subset: gard_rare {source="GARD:12348"} subset: ordo_disease {source="Orphanet:263487"} synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [Orphanet:263487] synonym: "CDG III" RELATED [OMIM:613612] @@ -265719,6 +272762,7 @@ synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612] xref: DOID:0070261 {source="MONDO:equivalentTo"} +xref: GARD:12348 {source="Orphanet:263487"} xref: ICD10CM:E77.8 {source="Orphanet:263487", source="Orphanet:263487/attributed", source="Orphanet:263487/ntbt"} xref: OMIM:613612 {source="MONDO:equivalentTo", source="Orphanet:263487", source="Orphanet:263487/e"} xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"} @@ -265737,12 +272781,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1173/cdg-syn id: MONDO:0013326 name: Senior-Loken syndrome 7 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15681"} synonym: "SDCCAG8 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SENIOR-Loken syndrome 7" RELATED [OMIM:613615] synonym: "Senior-Loken syndrome 7" EXACT [MONDO:Lexical, OMIM:613615] synonym: "Senior-Loken syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1, OMIM:613615] synonym: "SLSN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613615] +xref: GARD:15681 {source="OMIM:613615"} xref: OMIM:613615 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:613615"} xref: UMLS:C3150877 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613615"} @@ -265756,7 +272802,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013327 name: primary hyperoxaluria type 3 def: "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." [Orphanet:93600] -subset: gard_rare {source="GARD:0010738"} +subset: gard_rare {source="GARD:10738"} subset: ordo_clinical_subtype {source="Orphanet:93600"} synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613616] @@ -265766,6 +272812,7 @@ synonym: "PH III" RELATED [GARD:0010738] synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214] xref: DOID:0111672 {source="MONDO:equivalentTo"} +xref: GARD:10738 {source="Orphanet:93600"} xref: ICD10CM:E74.8 {source="Orphanet:93600", source="Orphanet:93600/attributed", source="Orphanet:93600/ntbt"} xref: NCIT:C123214 {source="MONDO:equivalentTo"} xref: OMIM:613616 {source="MONDO:equivalentTo", source="Orphanet:93600", source="Orphanet:93600/e"} @@ -265784,12 +272831,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10738/primar id: MONDO:0013328 name: retinitis pigmentosa 58 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15682"} synonym: "retinitis pigmentosa 58" EXACT [MONDO:Lexical, OMIM:613617] synonym: "retinitis pigmentosa caused by mutation in ZNF513" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 58" EXACT [DOID:0110362, MONDORULE:2, OMIM:613617] synonym: "RP58" EXACT ABBREVIATION [DOID:0110362, MONDO:Lexical, OMIM:613617] synonym: "ZNF513 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110362 {source="MONDO:equivalentTo"} +xref: GARD:15682 {source="OMIM:613617"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110362"} xref: OMIM:613617 {source="MONDO:equivalentTo", source="DOID:0110362"} xref: UMLS:C3150879 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613617"} @@ -265802,9 +272851,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013329 name: familial clubfoot due to 17q23.1q23.2 microduplication def: "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." [Orphanet:238578] +subset: gard_rare {source="GARD:17177"} subset: ordo_etiological_subtype {source="Orphanet:238578"} synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618] synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578] +xref: GARD:17177 {source="Orphanet:238578"} xref: ICD10CM:Q66.8 {source="Orphanet:238578", source="Orphanet:238578/attributed", source="Orphanet:238578/ntbt"} xref: OMIM:613618 {source="Orphanet:238578", source="MONDO:equivalentTo", source="Orphanet:238578/e"} xref: Orphanet:199315 {source="OMIM:613618"} @@ -265829,6 +272880,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013331 name: factor 5 and Factor VIII, combined deficiency of, 2 def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18632"} synonym: "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" EXACT [MONDO:design_pattern] synonym: "F5F8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613625] synonym: "factor 5 and Factor VIII, combined deficiency of, 2" EXACT CLINGEN_PREFERRED [] @@ -265836,6 +272888,7 @@ synonym: "factor 5 and Factor VIII, combined deficiency of, type 2" EXACT [MONDO synonym: "factor V and factor VIII, combined deficiency of" EXACT [OMIM:613625, OMIM:genemap2] synonym: "factor V and factor VIII, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:613625] synonym: "MCFD2 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18632 {source="OMIM:613625"} xref: OMIM:613625 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="OMIM:613625"} xref: UMLS:C3150889 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613625"} @@ -265873,11 +272926,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328"} ! rare id: MONDO:0013334 name: cocoon syndrome def: "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." [Orphanet:465824] +subset: gard_rare {source="GARD:17823"} subset: ordo_malformation_syndrome {source="Orphanet:465824"} synonym: "cocoon syndrome" EXACT [OMIM:613630] synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630] synonym: "foetal encasement syndrome" EXACT OMO:0003005 [] xref: DOID:0060647 {source="MONDO:equivalentTo"} +xref: GARD:17823 {source="Orphanet:465824"} xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="DOID:0060647", source="Orphanet:465824/e"} xref: Orphanet:465824 {source="MONDO:equivalentTo"} xref: UMLS:C3150891 {source="OMIM:613630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -265902,6 +272957,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013336 name: chromosome 19p13.13 deletion syndrome def: "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." [Orphanet:357001] +subset: gard_rare {source="GARD:17542"} subset: ordo_malformation_syndrome {source="Orphanet:357001"} synonym: "19p13.13 microdeletion syndrome" RELATED [Orphanet:357001] synonym: "chromosome 19p13.13 deletion syndrome" EXACT [OMIM:613638] @@ -265909,6 +272965,7 @@ synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638] synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001] synonym: "monosomy 19p13.13" EXACT [Orphanet:357001] xref: DOID:0060426 {source="MONDO:equivalentTo"} +xref: GARD:17542 {source="Orphanet:357001"} xref: ICD10CM:Q93.5 {source="Orphanet:357001/attributed", source="Orphanet:357001/ntbt", source="Orphanet:357001"} xref: OMIM:613638 {source="Orphanet:357001/e", source="MONDO:equivalentTo", source="DOID:0060426", source="Orphanet:357001"} xref: Orphanet:357001 {source="MONDO:equivalentTo"} @@ -265931,6 +272988,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013337 name: neuropathy, hereditary sensory and autonomic, type 1C def: "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." [DOID:0070157] +subset: gard_rare {source="GARD:15683"} synonym: "hereditary sensory and autonomic neuropathy type 1C" RELATED [DOID:0070157] synonym: "hereditary sensory and autonomic neuropathy type IC" EXACT [DOID:0070157] synonym: "HSAN 1C" RELATED [OMIM:613640] @@ -265939,6 +272997,7 @@ synonym: "HSN 1C" RELATED [OMIM:613640] synonym: "neuropathy, hereditary sensory and autonomic, type IC" RELATED [MONDO:Lexical, OMIM:613640] synonym: "neuropathy, hereditary sensory, type 1C" RELATED [OMIM:613640] xref: DOID:0070157 {source="MONDO:equivalentTo"} +xref: GARD:15683 {source="OMIM:613640"} xref: OMIM:613640 {source="DOID:0070157", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:613640"} xref: UMLS:C3150896 {source="OMIM:613640", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -265950,6 +273009,7 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0013338 name: Charcot-Marie-Tooth disease recessive intermediate B def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." [Orphanet:254334] +subset: gard_rare {source="GARD:12454"} subset: ordo_disease {source="Orphanet:254334"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204] synonym: "Charcot-Marie-Tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern] @@ -265964,6 +273024,7 @@ synonym: "KARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:p synonym: "RI-CMT type B" EXACT [Orphanet:254334] synonym: "RI-CMTB" EXACT [DOID:0110204] xref: DOID:0110204 {source="MONDO:equivalentTo"} +xref: GARD:12454 {source="Orphanet:254334"} xref: ICD10CM:G60.0 {source="DOID:0110204", source="Orphanet:254334/attributed", source="Orphanet:254334/ntbt", source="Orphanet:254334"} xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="MONDO:equivalentTo", source="Orphanet:254334/e"} xref: Orphanet:254334 {source="DOID:0110204", source="OMIM:613641", source="MONDO:equivalentTo"} @@ -265979,6 +273040,7 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0013339 name: dilated cardiomyopathy 1GG def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15684"} synonym: "cardiomyopathy, dilated, 1GG" RELATED [MONDO:Lexical, OMIM:613642] synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9, OMIM:613642] synonym: "CMD1GG" EXACT ABBREVIATION [DOID:0110435, MONDO:Lexical, OMIM:613642] @@ -265986,6 +273048,7 @@ synonym: "dilated cardiomyopathy type 1GG" EXACT [DOID:0110435, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in SDHA" EXACT [MONDO:design_pattern] synonym: "SDHA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110435 {source="MONDO:equivalentTo"} +xref: GARD:15684 {source="OMIM:613642"} xref: ICD10CM:I42.0 {source="DOID:0110435"} xref: OMIM:613642 {source="DOID:0110435", source="MONDO:equivalentTo"} xref: UMLS:C3150898 {source="OMIM:613642", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -265997,6 +273060,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013340 name: Parkinson disease 5, autosomal dominant, susceptibility to def: "An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:18609"} subset: predisposition synonym: "PARK5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613643] synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:613643] @@ -266004,6 +273068,7 @@ synonym: "Parkinson disease 5, susceptibility to" EXACT [OMIM:613643, OMIM:genem synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [OMIM:613643] synonym: "UCHL1 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MONDO:design_pattern] +xref: GARD:18609 {source="OMIM:613643"} xref: OMIM:613643 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:613643"} xref: UMLS:C3150899 {source="OMIM:613643", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -266019,6 +273084,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013341 name: methylmalonic acidemia due to transcobalamin receptor defect def: "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." [Orphanet:280183] +subset: gard_rare {source="GARD:16481"} subset: ordo_biological_anomaly {source="Orphanet:280183"} synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern] @@ -266028,6 +273094,7 @@ synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646] synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646] xref: DOID:0060741 {source="MONDO:equivalentTo"} +xref: GARD:16481 {source="Orphanet:280183"} xref: ICD10CM:E71.1 {source="Orphanet:280183/attributed", source="Orphanet:280183/ntbt", source="DOID:0060741", source="Orphanet:280183"} xref: OMIM:613646 {source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo", source="Orphanet:280183/e"} xref: Orphanet:280183 {source="DOID:0060741", source="MONDO:equivalentTo", source="OMIM:613646"} @@ -266043,6 +273110,7 @@ property_value: confidence "28.999999999999883" xsd:double id: MONDO:0013342 name: hereditary spastic paraplegia 48 def: "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." [Orphanet:306511] +subset: gard_rare {source="GARD:17378"} subset: ordo_disease {source="Orphanet:306511"} synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800] @@ -266052,6 +273120,7 @@ synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE: synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647] synonym: "SPG48" EXACT ABBREVIATION [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511] xref: DOID:0110800 {source="MONDO:equivalentTo"} +xref: GARD:17378 {source="Orphanet:306511"} xref: ICD10CM:G11.4 {source="DOID:0110800", source="Orphanet:306511/attributed", source="Orphanet:306511/ntbt", source="Orphanet:306511"} xref: OMIM:613647 {source="DOID:0110800", source="Orphanet:306511/e", source="MONDO:equivalentTo", source="Orphanet:306511"} xref: Orphanet:306511 {source="DOID:0110800", source="MONDO:equivalentTo", source="OMIM:613647"} @@ -266068,10 +273137,11 @@ property_value: confidence "15.666666666666675" xsd:double id: MONDO:0013343 name: C1Q deficiency def: "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." [https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency, PMID:29449492] -subset: gard_rare {source="GARD:0012958"} +subset: gard_rare {source="GARD:12958"} synonym: "C1Q deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613652] synonym: "C1q deficiency" EXACT [OMIM:613652] synonym: "C1QD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613652] +xref: GARD:12958 {source="OMIM:613652"} xref: NCIT:C119990 {source="MONDO:equivalentTo"} xref: OMIM:613652 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="OMIM:613652"} @@ -266106,6 +273176,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0013345 name: d-2-hydroxyglutaric aciduria 2 def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15685"} synonym: "D-2-hydroxyglutaric aciduria 2" RELATED [OMIM:613657] synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [MONDO:Lexical, OMIM:613657] synonym: "D-2-hydroxyglutaric aciduria caused by mutation in IDH2" EXACT [MONDO:design_pattern] @@ -266113,6 +273184,7 @@ synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1, OMIM:613657] synonym: "D2HGA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613657] synonym: "IDH2 D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111352 {source="MONDO:equivalentTo"} +xref: GARD:15685 {source="OMIM:613657"} xref: OMIM:613657 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="OMIM:613657"} xref: UMLS:C3150909 {source="MONDO:equivalentTo", source="OMIM:613657", source="MONDO:ncbi_mim2gene_medline"} @@ -266139,6 +273211,7 @@ replaced_by: MONDO:0001056 id: MONDO:0013348 name: cone-rod dystrophy 15 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15686"} synonym: "CDHR1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 15" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613660] synonym: "cone-rod dystrophy caused by mutation in CDHR1" EXACT [MONDO:design_pattern] @@ -266146,6 +273219,7 @@ synonym: "cone-rod dystrophy type 15" EXACT [DOID:0111021, MONDORULE:2, OMIM:613 synonym: "CORD15" EXACT ABBREVIATION [DOID:0111021, MONDO:Lexical, OMIM:613660] synonym: "retinitis pigmentosa 65" RELATED [OMIM:613660] xref: DOID:0111021 {source="MONDO:equivalentTo"} +xref: GARD:15686 {source="OMIM:613660"} xref: OMIM:613660 {source="MONDO:equivalentTo", source="DOID:0111021"} xref: Orphanet:1872 {source="OMIM:613660"} xref: Orphanet:791 {source="OMIM:613660"} @@ -266161,6 +273235,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013349 name: ALG11-congenital disorder of glycosylation def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." [Orphanet:280071] +subset: gard_rare {source="GARD:12396"} subset: ordo_disease {source="Orphanet:280071"} synonym: "ALG11-CDG" EXACT ABBREVIATION [Orphanet:280071] synonym: "ALG11-CDG (CDG-Ip)" RELATED [GARD:0012396] @@ -266173,6 +273248,7 @@ synonym: "congenital disorder of glycosylation type 1p" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661] xref: DOID:0080567 {source="MONDO:equivalentTo"} +xref: GARD:12396 {source="Orphanet:280071"} xref: ICD10CM:E77.8 {source="Orphanet:280071/attributed", source="Orphanet:280071/ntbt", source="Orphanet:280071"} xref: OMIM:613661 {source="Orphanet:280071", source="MONDO:equivalentTo", source="Orphanet:280071/e"} xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"} @@ -266204,10 +273280,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013351 name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly def: "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." [Orphanet:402364] +subset: gard_rare {source="GARD:10995"} subset: ordo_malformation_syndrome {source="Orphanet:402364"} synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [OMIM:613668] synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995] xref: DOID:0111262 {source="MONDO:equivalentTo"} +xref: GARD:10995 {source="Orphanet:402364"} xref: ICD10CM:Q04.3 {source="Orphanet:402364/attributed", source="Orphanet:402364/ntbt", source="Orphanet:402364"} xref: OMIM:613668 {source="Orphanet:402364/e", source="MONDO:equivalentTo", source="Orphanet:402364"} xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"} @@ -266220,7 +273298,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013352 name: intellectual disability-severe speech delay-mild dysmorphism syndrome def: "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." [https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome] -subset: gard_rare {source="GARD:0012501"} +subset: gard_rare {source="GARD:12501"} subset: ordo_malformation_syndrome {source="Orphanet:391372"} synonym: "FOXP1 related global developmental delay, intellectual disability and speech defects" RELATED [GARD:0012501] synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501, OMIM:613670] @@ -266228,6 +273306,7 @@ synonym: "intellectual disability-severe speech delay-mild dysmorphism syndrome" synonym: "mental retardation with language impairment and with or without autistic features" RELATED DEPRECATED [OMIM:613670] xref: DOID:0111331 {source="MONDO:equivalentTo"} xref: EFO:1001500 {source="MONDO:equivalentTo"} +xref: GARD:12501 {source="Orphanet:391372"} xref: ICD10CM:Q87.2 {source="Orphanet:391372/attributed", source="Orphanet:391372/ntbt", source="Orphanet:391372"} xref: OMIM:613670 {source="Orphanet:391372", source="MONDO:equivalentTo", source="Orphanet:391372/e"} xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"} @@ -266243,9 +273322,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12501/intell [Term] id: MONDO:0013353 name: intellectual disability, anterior maxillary protrusion, and strabismus +subset: gard_rare {source="GARD:17997"} synonym: "intellectual disability, anterior maxillary protrusion, and strabismus" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613671] synonym: "mental retardation, anterior maxillary protrusion, and strabismus" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671] synonym: "MRAMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671] +xref: GARD:17997 {source="Orphanet:562559"} xref: OMIM:613671 {source="MONDO:equivalentTo"} xref: Orphanet:562559 {source="MONDO:equivalentTo"} xref: UMLS:C3150924 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613671"} @@ -266256,6 +273337,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013354 name: spastic ataxia 4 def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10992"} subset: ordo_disease {source="Orphanet:254343"} synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELATED [GARD:0010992] synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992] @@ -266267,6 +273349,7 @@ synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:61 synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1] synonym: "SPAX4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613672, Orphanet:254343] xref: DOID:0050943 {source="MONDO:equivalentTo"} +xref: GARD:10992 {source="Orphanet:254343"} xref: ICD10CM:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="Orphanet:254343/attributed", source="Orphanet:254343/ntbt"} xref: OMIM:613672 {source="Orphanet:254343", source="MONDO:equivalentTo", source="Orphanet:254343/e", source="DOID:0050943"} xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"} @@ -266284,6 +273367,7 @@ property_value: confidence "2.25" xsd:double id: MONDO:0013355 name: congenital dyserythropoietic anemia type 4 def: "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." [Orphanet:293825] +subset: gard_rare {source="GARD:17344"} subset: ordo_disease {source="Orphanet:293825"} synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [OMIM:613673] synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical, OMIM:613673] @@ -266298,6 +273382,7 @@ synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orpha synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825] synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2] xref: DOID:0111400 {source="MONDO:equivalentTo"} +xref: GARD:17344 {source="Orphanet:293825"} xref: ICD10CM:D64.4 {source="Orphanet:293825", source="Orphanet:293825/attributed", source="Orphanet:293825/ntbt"} xref: OMIM:613673 {source="Orphanet:293825", source="MONDO:equivalentTo", source="Orphanet:293825/e"} xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"} @@ -266314,11 +273399,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013356 name: vesicoureteral reflux 3 def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18420"} synonym: "SOX17 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in SOX17" EXACT [] synonym: "vesicoureteral reflux 3" EXACT [MONDO:Lexical, OMIM:613674] synonym: "vesicoureteral reflux type 3" EXACT [MONDORULE:1, OMIM:613674] synonym: "VUR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613674] +xref: GARD:18420 {source="OMIM:613674"} xref: OMIM:613674 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:613674"} xref: UMLS:C3150927 {source="OMIM:613674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -266332,6 +273419,7 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0013357 name: chromosome 17q11.2 deletion syndrome, 1.4Mb def: "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:97685] +subset: gard_rare {source="GARD:18646", source="GARD:5408"} subset: ordo_clinical_subtype {source="Orphanet:97685"} subset: ordo_malformation_syndrome {source="Orphanet:137634"} synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403] @@ -266349,6 +273437,8 @@ synonym: "overgrowth-macrocephaly-facial dysmorphism syndrome" EXACT [MONDO:0013 synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634] synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675] xref: DOID:0060403 {source="MONDO:equivalentTo"} +xref: GARD:18646 {source="Orphanet:137634"} +xref: GARD:5408 {source="Orphanet:97685"} xref: ICD10CM:Q85.0 {source="Orphanet:97685", source="Orphanet:97685/attributed", source="Orphanet:97685/ntbt", source="DOID:0060403"} xref: ICD10CM:Q87.3 {source="Orphanet:137634/attributed", source="Orphanet:137634/ntbt", source="Orphanet:137634"} xref: MESH:C563524 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} @@ -266373,12 +273463,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5408/chromos id: MONDO:0013358 name: Seckel syndrome 4 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15687"} synonym: "CENPJ Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL4" EXACT ABBREVIATION [DOID:0070010, MONDO:Lexical, OMIM:613676] synonym: "Seckel syndrome 4" EXACT [MONDO:Lexical, OMIM:613676] synonym: "Seckel syndrome caused by mutation in CENPJ" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1, OMIM:613676] xref: DOID:0070010 {source="MONDO:equivalentTo"} +xref: GARD:15687 {source="OMIM:613676"} xref: OMIM:613676 {source="DOID:0070010", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:613676"} xref: UMLS:C1826553 {source="OMIM:613676", source="MONDO:notFoundInDiseaseSubset"} @@ -266395,6 +273487,7 @@ property_value: confidence "1.7876687750502542" xsd:double id: MONDO:0013359 name: familial hyperaldosteronism type III def: "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." [Orphanet:251274] +subset: gard_rare {source="GARD:12362"} subset: ordo_disease {source="Orphanet:251274"} synonym: "familial hyperaldosteronism type 3" EXACT [Orphanet:251274] synonym: "FH 3" RELATED [OMIM:613677] @@ -266404,6 +273497,7 @@ synonym: "FH3" EXACT ABBREVIATION [Orphanet:251274] synonym: "HALD3" RELATED ABBREVIATION [OMIM:613677] synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677] synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677] +xref: GARD:12362 {source="Orphanet:251274"} xref: ICD10CM:E26.0 {source="Orphanet:251274", source="Orphanet:251274/attributed", source="Orphanet:251274/ntbt"} xref: OMIM:613677 {source="Orphanet:251274", source="MONDO:equivalentTo", source="Orphanet:251274/e"} xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"} @@ -266418,10 +273512,12 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0013360 name: brachyolmia, Maroteaux type def: "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." [Orphanet:93302] +subset: gard_rare {source="GARD:16816"} subset: ordo_malformation_syndrome {source="Orphanet:93302"} synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613678] synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302] synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678] +xref: GARD:16816 {source="Orphanet:93302"} xref: ICD10CM:Q76.3 {source="Orphanet:93302", source="Orphanet:93302/attributed", source="Orphanet:93302/ntbt"} xref: OMIM:613678 {source="MONDO:equivalentTo", source="Orphanet:93302", source="Orphanet:93302/e"} xref: Orphanet:93302 {source="MONDO:equivalentTo", source="OMIM:613678"} @@ -266435,7 +273531,7 @@ property_value: confidence "0.23529411764705932" xsd:double id: MONDO:0013361 name: congenital prothrombin deficiency def: "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." [Orphanet:325] -subset: gard_rare +subset: gard_rare {source="GARD:2926"} subset: ordo_disease {source="Orphanet:325"} synonym: "congenital factor II deficiency" RELATED [Orphanet:325] synonym: "congenital prothrombin deficiency" EXACT CLINGEN_PREFERRED [] @@ -266447,6 +273543,7 @@ synonym: "hypoprothrombinemia" BROAD [DOID:2235, OMIM:613679, Orphanet:325] synonym: "prothrombin deficiency" BROAD [OMIM:613679, OMIM:genemap2, Orphanet:325] synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679] xref: DOID:2235 {source="MONDO:equivalentTo"} +xref: GARD:2926 {source="Orphanet:325"} xref: ICD10CM:D68.2 {source="Orphanet:325/attributed", source="Orphanet:325/ntbt", source="Orphanet:325"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007020 {source="DOID:2235", source="MONDO:equivalentTo"} @@ -266474,12 +273571,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2235/factor- [Term] id: MONDO:0013362 name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17558"} subset: ordo_malformation_syndrome {source="Orphanet:363444"} synonym: "BBIS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613680, Orphanet:363444] synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680] synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444] synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680] synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [OMIM:613680] +xref: GARD:17558 {source="Orphanet:363444"} xref: ICD10CM:Q87.0 {source="Orphanet:363444", source="Orphanet:363444/attributed", source="Orphanet:363444/ntbt"} xref: OMIM:613680 {source="MONDO:equivalentTo", source="Orphanet:363444", source="Orphanet:363444/e"} xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"} @@ -266494,6 +273593,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013363 name: chromosome 2q31.1 duplication syndrome +subset: gard_rare {source="GARD:21175", source="GARD:15688"} subset: ordo_malformation_syndrome {source="Orphanet:294026"} synonym: "2q31.1 microduplication syndrome" EXACT [MONDO:0017412] synonym: "chromosome 2q31.1 duplication syndrome" EXACT [OMIM:613681] @@ -266501,6 +273601,8 @@ synonym: "dup(2)(q31.1)" EXACT [Orphanet:294026] synonym: "mesomelic dysplasia, 2Q31.1 Duplication-related" RELATED [OMIM:613681] synonym: "trisomy 2q31.1" EXACT [Orphanet:294026] xref: DOID:0060458 {source="MONDO:equivalentTo"} +xref: GARD:15688 {source="OMIM:613681"} +xref: GARD:21175 {source="Orphanet:294026"} xref: OMIM:613681 {source="MONDO:equivalentTo", source="DOID:0060458"} xref: Orphanet:1836 {source="OMIM:613681"} xref: Orphanet:294026 {source="MONDO:equivalentTo"} @@ -266519,6 +273621,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013364 name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17535"} subset: ordo_clinical_subtype {source="Orphanet:353284"} synonym: "EP300 Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RSTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613684] @@ -266526,6 +273629,7 @@ synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684] synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT [] synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT CLINGEN_PREFERRED [] synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684] +xref: GARD:17535 {source="Orphanet:353284"} xref: ICD10CM:Q87.2 {source="Orphanet:353284/attributed", source="Orphanet:353284/ntbt", source="Orphanet:353284"} xref: NCIT:C153291 {source="MONDO:equivalentTo"} xref: OMIM:613684 {source="Orphanet:353284/e", source="MONDO:equivalentTo", source="Orphanet:353284"} @@ -266544,12 +273648,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013365 name: autosomal recessive nonsyndromic hearing loss 83 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." [DOID:0110528] +subset: gard_rare {source="GARD:22637"} synonym: "autosomal recessive deafness 83" NARROW [DOID:0110528] synonym: "autosomal recessive nonsyndromic deafness 83" NARROW [OMIM:613685] synonym: "autosomal recessive nonsyndromic deafness type 83" NARROW [DOID:0110528, MONDORULE:2] synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical, OMIM:613685, OMIM:genemap2] synonym: "DFNB83" NARROW ABBREVIATION [DOID:0110528, MONDO:Lexical, OMIM:613685] xref: DOID:0110528 {source="MONDO:equivalentTo"} +xref: GARD:22637 {source="OMIM:613685"} xref: ICD10CM:H90.3 {source="DOID:0110528"} xref: OMIM:613685 {source="MONDO:equivalentTo", source="DOID:0110528"} xref: UMLS:C2829263 {source="OMIM:613685", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -266561,6 +273667,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013366 name: spondylocostal dysostosis 4, autosomal recessive def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:4976"} synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in HES7" EXACT [] synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7" EXACT [MONDO:design_pattern] synonym: "HES7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene] @@ -266569,6 +273676,7 @@ synonym: "SCDO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613686] synonym: "spondylocostal dysostosis 4" RELATED [GARD:0004976] synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613686] xref: DOID:0112364 {source="MONDO:equivalentTo"} +xref: GARD:4976 {source="OMIM:613686"} xref: OMIM:613686 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="OMIM:613686"} xref: UMLS:C3150942 {source="OMIM:613686", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -266585,7 +273693,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013367 name: long QT syndrome 2 def: "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137957] -subset: gard_rare {source="GARD:0003285"} +subset: gard_rare {source="GARD:3285"} synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:613688] synonym: "long QT syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613688] synonym: "long QT syndrome 2, acquired, susceptibility to" RELATED [OMIM:613688] @@ -266596,6 +273704,7 @@ synonym: "long QT syndrome type 2" EXACT [DOID:0110645, MONDORULE:1, OMIM:613688 synonym: "Long QT syndrome, acquired, reduced susceptibility to" EXACT [OMIM:613688, OMIM:genemap2] synonym: "LQT2" EXACT ABBREVIATION [DOID:0110645, MONDO:Lexical, OMIM:613688] xref: DOID:0110645 {source="MONDO:equivalentTo"} +xref: GARD:3285 {source="OMIM:613688"} xref: HGNC:6251 {source="GARD:0003285"} xref: ICD10CM:I45.8 {source="DOID:0110645"} xref: MESH:C563614 {source="MONDO:equivalentTo"} @@ -266621,11 +273730,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3285/long-qt id: MONDO:0013368 name: mammary-digital-nail syndrome def: "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." [Orphanet:238744] +subset: gard_rare {source="GARD:17180"} subset: ordo_malformation_syndrome {source="Orphanet:238744"} synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689] synonym: "MDN syndrome" EXACT [Orphanet:238744] synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613689] synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744] +xref: GARD:17180 {source="Orphanet:238744"} xref: ICD10CM:Q87.2 {source="Orphanet:238744/attributed", source="Orphanet:238744/ntbt", source="Orphanet:238744"} xref: OMIM:613689 {source="Orphanet:238744", source="MONDO:equivalentTo", source="Orphanet:238744/e"} xref: Orphanet:238744 {source="MONDO:equivalentTo", source="OMIM:613689"} @@ -266668,7 +273779,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013370 name: long QT syndrome 6 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010434"} +subset: gard_rare {source="GARD:10434"} synonym: "KCNE2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:613693] synonym: "long QT syndrome 6" EXACT [MONDO:Lexical, OMIM:613693] @@ -266677,6 +273788,7 @@ synonym: "long QT syndrome caused by mutation in KCNE2" EXACT [MONDO:design_patt synonym: "long QT syndrome type 6" EXACT [DOID:0110648, MONDORULE:1, OMIM:613693] synonym: "LQT6" EXACT ABBREVIATION [DOID:0110648, MONDO:Lexical, OMIM:613693] xref: DOID:0110648 {source="MONDO:equivalentTo"} +xref: GARD:10434 {source="OMIM:613693"} xref: HGNC:6242 {source="GARD:0010434"} xref: ICD10CM:I45.8 {source="DOID:0110648"} xref: MESH:C566333 {source="MONDO:equivalentTo"} @@ -266699,6 +273811,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10434/long-q id: MONDO:0013371 name: dilated cardiomyopathy 1U def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15689"} synonym: "cardiomyopathy, dilated, 1U" RELATED [MONDO:Lexical, OMIM:613694] synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4, OMIM:613694] synonym: "CMD1U" EXACT ABBREVIATION [DOID:0110455, MONDO:Lexical, OMIM:613694] @@ -266706,6 +273819,7 @@ synonym: "dilated cardiomyopathy type 1U" EXACT [DOID:0110455, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN1" EXACT [MONDO:design_pattern] synonym: "PSEN1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110455 {source="MONDO:equivalentTo"} +xref: GARD:15689 {source="OMIM:613694"} xref: ICD10CM:I42.0 {source="DOID:0110455"} xref: MESH:C566296 {source="MONDO:equivalentTo"} xref: OMIM:613694 {source="MONDO:equivalentTo", source="DOID:0110455"} @@ -266719,7 +273833,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013372 name: long QT syndrome 5 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010433"} +subset: gard_rare {source="GARD:10433"} synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695] synonym: "long QT syndrome 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613695] @@ -266728,6 +273842,7 @@ synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_patt synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695] synonym: "LQT5" EXACT ABBREVIATION [DOID:0110647, MONDO:Lexical, OMIM:613695] xref: DOID:0110647 {source="MONDO:equivalentTo"} +xref: GARD:10433 {source="OMIM:613695"} xref: HGNC:6240 {source="GARD:0010433"} xref: ICD10CM:I45.8 {source="DOID:0110647"} xref: MESH:C566766 {source="MONDO:equivalentTo"} @@ -266750,6 +273865,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10433/long-q id: MONDO:0013373 name: dilated cardiomyopathy 1V def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15690"} synonym: "cardiomyopathy, dilated, 1V" RELATED [MONDO:Lexical, OMIM:613697] synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4, OMIM:613697] synonym: "CMD1V" EXACT ABBREVIATION [DOID:0110427, MONDO:Lexical, OMIM:613697] @@ -266757,6 +273873,7 @@ synonym: "dilated cardiomyopathy type 1V" EXACT [DOID:0110427, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" EXACT [MONDO:design_pattern] synonym: "PSEN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110427 {source="MONDO:equivalentTo"} +xref: GARD:15690 {source="OMIM:613697"} xref: ICD10CM:I42.0 {source="DOID:0110427"} xref: MESH:C566856 {source="MONDO:equivalentTo"} xref: OMIM:613697 {source="DOID:0110427", source="MONDO:equivalentTo"} @@ -266779,12 +273896,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013375 name: Klippel-Feil syndrome 3, autosomal dominant def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15691"} synonym: "GDF3 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF3" EXACT [MONDO:design_pattern] synonym: "KFS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613702] synonym: "Klippel-FEIL syndrome 3, autosomal dominant" RELATED [OMIM:613702] synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613702] xref: DOID:0080591 {source="MONDO:equivalentTo"} +xref: GARD:15691 {source="OMIM:613702"} xref: OMIM:613702 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:613702"} xref: UMLS:C3150967 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613702"} @@ -266796,11 +273915,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013376 name: microphthalmia, isolated, with coloboma 6 +subset: gard_rare {source="GARD:15692"} synonym: "MCOPCB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613703] synonym: "microphthalmia with coloboma 6" EXACT [OMIM:613703, OMIM:genemap2] synonym: "microphthalmia with coloboma 6, digenic" EXACT [OMIM:613703, OMIM:genemap2] synonym: "microphthalmia, isolated, with coloboma 6" EXACT [MONDO:Lexical, OMIM:613703] synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1, OMIM:613703] +xref: GARD:15692 {source="OMIM:613703"} xref: OMIM:613703 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:613703"} xref: UMLS:C3150968 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613703"} @@ -266834,6 +273955,7 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0013378 name: orofacial cleft 10 def: "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18306"} synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705] synonym: "OFC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613705] synonym: "orofacial cleft 10" EXACT [MONDO:Lexical, OMIM:613705] @@ -266842,6 +273964,7 @@ synonym: "orofacial cleft caused by mutation in SUMO1" EXACT [MONDO:design_patte synonym: "orofacial cleft type 10" EXACT [MONDORULE:2, OMIM:613705] synonym: "SUMO1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080403 {source="MONDO:equivalentTo"} +xref: GARD:18306 {source="OMIM:613705"} xref: MESH:C566605 {source="MONDO:equivalentTo"} xref: OMIM:613705 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:613705"} @@ -266859,12 +273982,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013379 name: Noonan syndrome 7 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15693"} synonym: "BRAF Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Noonan syndrome 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613706] synonym: "Noonan syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 7" EXACT [DOID:0060585, MONDORULE:1, OMIM:613706] synonym: "NS7" EXACT ABBREVIATION [DOID:0060585, MONDO:Lexical, OMIM:613706] xref: DOID:0060585 {source="MONDO:equivalentTo"} +xref: GARD:15693 {source="OMIM:613706"} xref: NCIT:C176935 {source="MONDO:equivalentTo"} xref: OMIM:613706 {source="DOID:0060585", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:613706"} @@ -266879,6 +274004,7 @@ property_value: confidence "1.9999999999999991" xsd:double id: MONDO:0013380 name: LEOPARD syndrome 3 def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15694"} synonym: "BRAF Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LEOPARD syndrome 3" EXACT CLINGEN_PREFERRED [OMIM:613707] synonym: "leopard syndrome 3" EXACT [MONDO:Lexical, OMIM:613707] @@ -266886,6 +274012,7 @@ synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1, OMIM:613707] synonym: "LPRD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613707] synonym: "Noonan syndrome with multiple lentigines caused by mutation in BRAF" EXACT [MONDO:design_pattern] xref: DOID:0080550 {source="MONDO:equivalentTo"} +xref: GARD:15694 {source="OMIM:613707"} xref: OMIM:613707 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="OMIM:613707"} xref: UMLS:C3150971 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613707"} @@ -266900,11 +274027,13 @@ property_value: confidence "3.6800000000000015" xsd:double id: MONDO:0013381 name: neuropathy, hereditary sensory, type 1D def: "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q." [DOID:0070156] +subset: gard_rare {source="GARD:15695"} synonym: "hereditary sensory neuropathy type 1D" RELATED [DOID:0070156] synonym: "hereditary sensory neuropathy type ID" RELATED [DOID:0070156] synonym: "HSN1D" EXACT ABBREVIATION [DOID:0070156, MONDO:Lexical, OMIM:613708] synonym: "neuropathy, hereditary sensory, type ID" RELATED [MONDO:Lexical, OMIM:613708] xref: DOID:0070156 {source="MONDO:equivalentTo"} +xref: GARD:15695 {source="OMIM:613708"} xref: OMIM:613708 {source="DOID:0070156", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:613708"} xref: UMLS:C3150972 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613708"} @@ -266916,6 +274045,7 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0013382 name: progressive demyelinating neuropathy with bilateral striatal necrosis def: "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." [Orphanet:217396] +subset: gard_rare {source="GARD:17123"} subset: ordo_disease {source="Orphanet:217396"} synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [OMIM:613710] synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [Orphanet:217396] @@ -266923,6 +274053,7 @@ synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710] synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [OMIM:613710, OMIM:genemap2] synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613710] +xref: GARD:17123 {source="Orphanet:217396"} xref: OMIM:613710 {source="Orphanet:217396/e", source="MONDO:equivalentTo", source="Orphanet:217396"} xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"} xref: UMLS:C3150973 {source="OMIM:613710", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -266935,7 +274066,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013383 name: Hirschsprung disease, susceptibility to, 3 -subset: gard_rare +subset: gard_rare {source="GARD:15696"} subset: predisposition synonym: "GDNF Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hirschsprung disease caused by mutation in GDNF" EXACT [MONDO:design_pattern] @@ -266945,6 +274076,7 @@ synonym: "Hirschsprung disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM synonym: "Hirschsprung disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613711] synonym: "HSCR3" RELATED ABBREVIATION [GARD:0002699, MONDO:Lexical, OMIM:613711] synonym: "susceptibility to Hirschsprung disease 3" RELATED [OMIM:613711] +xref: GARD:15696 {source="OMIM:613711"} xref: MESH:C538121 {source="MONDO:equivalentTo"} xref: OMIM:613711 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:613711"} @@ -266960,6 +274092,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2699/hirschs id: MONDO:0013384 name: Hirschsprung disease, susceptibility to, 4 def: "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15697"} subset: predisposition synonym: "EDN3 Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hirschsprung disease caused by mutation in EDN3" EXACT [MONDO:design_pattern] @@ -266967,6 +274100,7 @@ synonym: "Hirschsprung disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:613712] synonym: "HSCR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613712] synonym: "susceptibility to Hirschsprung disease 4" RELATED [OMIM:613712] +xref: GARD:15697 {source="OMIM:613712"} xref: OMIM:613712 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:613712"} xref: UMLS:C3150975 {source="OMIM:613712", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -266979,6 +274113,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013385 name: Treacher Collins syndrome 2 def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15698"} synonym: "POLR1D Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613717] synonym: "TREACHER COLLINS syndrome 2" RELATED [OMIM:613717] @@ -266986,6 +274121,7 @@ synonym: "Treacher Collins syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, O synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1, OMIM:613717] synonym: "Treacher-Collins syndrome caused by mutation in POLR1D" EXACT [MONDO:design_pattern] xref: DOID:0080790 {source="MONDO:equivalentTo"} +xref: GARD:15698 {source="OMIM:613717"} xref: OMIM:613717 {source="MONDO:equivalentTo"} xref: Orphanet:861 {source="OMIM:613717"} xref: UMLS:C3150983 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613717"} @@ -267002,6 +274138,7 @@ id: MONDO:0013386 name: autosomal recessive nonsyndromic hearing loss 74 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22638"} synonym: "autosomal recessive deafness 74" NARROW [DOID:0110523] synonym: "autosomal recessive nonsyndromic deafness 74" NARROW [OMIM:613718] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" NARROW [MONDO:design_pattern] @@ -267011,6 +274148,7 @@ synonym: "deafness, autosomal recessive type 74" NARROW [MONDORULE:2, OMIM:61371 synonym: "DFNB74" NARROW ABBREVIATION [DOID:0110523, MONDO:Lexical, OMIM:613718] synonym: "MSRB3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110523 {source="MONDO:equivalentTo"} +xref: GARD:22638 {source="OMIM:613718"} xref: ICD10CM:H90.3 {source="DOID:0110523"} xref: OMIM:613718 {source="DOID:0110523", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:613718"} @@ -267027,6 +274165,7 @@ id: MONDO:0013387 name: developmental and epileptic encephalopathy, 7 def: "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." [Orphanet:439218] subset: clingen +subset: gard_rare {source="GARD:13060"} subset: ordo_disease {source="Orphanet:439218"} synonym: "DEE7" EXACT ABBREVIATION [OMIM:613720] synonym: "developmental and epileptic encephalopathy 7" EXACT [OMIM:613720, OMIM:genemap2] @@ -267038,6 +274177,7 @@ synonym: "KCNQ2-related disorders" RELATED [GARD:0013060] synonym: "KCNQ2-related epileptic encephalopathy" EXACT [Orphanet:439218] synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [Orphanet:439218] xref: DOID:0080462 {source="MONDO:equivalentTo"} +xref: GARD:13060 {source="Orphanet:439218"} xref: ICD10CM:G40.4 {source="Orphanet:439218", source="Orphanet:439218/attributed", source="Orphanet:439218/ntbt"} xref: OMIM:613720 {source="Orphanet:439218", source="MONDO:equivalentTo", source="Orphanet:439218/e"} xref: Orphanet:439218 {source="MONDO:equivalentTo"} @@ -267051,6 +274191,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013388 name: developmental and epileptic encephalopathy, 11 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15699"} synonym: "DEE11" EXACT ABBREVIATION [OMIM:613721] synonym: "developmental and epileptic encephalopathy 11" EXACT [OMIM:613721, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] @@ -267059,6 +274200,7 @@ synonym: "epileptic encephalopathy, early infantile, 11" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2, OMIM:613721] synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080421 {source="MONDO:equivalentTo"} +xref: GARD:15699 {source="OMIM:613721"} xref: OMIM:613721 {source="MONDO:equivalentTo"} xref: UMLS:C3150987 {source="OMIM:613721", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100062 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy @@ -267072,7 +274214,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013389 name: developmental and epileptic encephalopathy, 12 def: "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12] -subset: gard_rare {source="GARD:0013318"} +subset: gard_rare {source="GARD:13318"} synonym: "DEE12" EXACT ABBREVIATION [OMIM:613722] synonym: "developmental and epileptic encephalopathy 12" EXACT [OMIM:613722, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy, 12" EXACT CLINGEN_PREFERRED [] @@ -267083,6 +274225,7 @@ synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722] synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080459 {source="MONDO:equivalentTo"} +xref: GARD:13318 {source="OMIM:613722"} xref: OMIM:613722 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:613722"} xref: Orphanet:3451 {source="OMIM:613722"} @@ -267101,6 +274244,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13318/early- id: MONDO:0013390 name: autosomal recessive limb-girdle muscular dystrophy type 2Q def: "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." [Orphanet:254361] +subset: gard_rare {source="GARD:12542"} subset: ordo_disease {source="Orphanet:254361"} synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285, Orphanet:254361] synonym: "LGMD2Q" EXACT ABBREVIATION [DOID:0110285, MONDO:Lexical, OMIM:613723, Orphanet:254361] @@ -267108,6 +274252,7 @@ synonym: "limb-girdle muscular dystrophy type 2Q" RELATED [GARD:0012542] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:613723, OMIM:genemap2] synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723] xref: DOID:0110285 {source="MONDO:equivalentTo"} +xref: GARD:12542 {source="Orphanet:254361"} xref: ICD10CM:G71.0 {source="Orphanet:254361/attributed", source="Orphanet:254361/ntbt", source="DOID:0110285", source="Orphanet:254361"} xref: OMIM:613723 {source="Orphanet:254361/e", source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361"} xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source="DOID:0110285"} @@ -267122,6 +274267,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013391 name: sterol carrier protein 2 deficiency def: "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." [Orphanet:163684] +subset: gard_rare {source="GARD:12471"} subset: ordo_disease {source="Orphanet:163684"} synonym: "leukoencephalopathy - dystonia - motor neuropathy" RELATED [GARD:0012471] synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [OMIM:613724] @@ -267129,6 +274275,7 @@ synonym: "leukoencephalopathy-dystonia-motor neuropathy syndrome" EXACT [Orphane synonym: "LKDMN" RELATED ABBREVIATION [OMIM:613724] synonym: "SCP2 deficiency" EXACT [OMIM:613724] synonym: "sterol carrier protein 2 deficiency" EXACT CLINGEN_PREFERRED [Orphanet:163684] +xref: GARD:12471 {source="Orphanet:163684"} xref: ICD10CM:E75.2 {source="Orphanet:163684", source="Orphanet:163684/attributed", source="Orphanet:163684/ntbt"} xref: OMIM:613724 {source="MONDO:equivalentTo", source="Orphanet:163684", source="Orphanet:163684/e"} xref: Orphanet:163684 {source="MONDO:equivalentTo", source="OMIM:613724"} @@ -267142,6 +274289,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013392 name: autosomal recessive spinocerebellar ataxia 10 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17314"} subset: ordo_disease {source="Orphanet:284289"} synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289] synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -267151,6 +274299,7 @@ synonym: "SCAR10" EXACT ABBREVIATION [DOID:0050999, MONDO:Lexical, OMIM:613728, synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728] synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728] xref: DOID:0050999 {source="MONDO:equivalentTo"} +xref: GARD:17314 {source="Orphanet:284289"} xref: ICD10CM:G11.2 {source="Orphanet:284289", source="Orphanet:284289/attributed", source="Orphanet:284289/ntbt"} xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="DOID:0050999", source="Orphanet:284289/e"} xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"} @@ -267165,12 +274314,14 @@ property_value: confidence "12.4375" xsd:double id: MONDO:0013393 name: distal 7q11.23 microdeletion syndrome def: "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." [Orphanet:254351] +subset: gard_rare {source="GARD:17218"} subset: ordo_malformation_syndrome {source="Orphanet:254351"} synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [OMIM:613729] synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [OMIM:613729, OMIM:genemap2] synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729] synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351] synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351] +xref: GARD:17218 {source="Orphanet:254351"} xref: ICD10CM:Q93.5 {source="Orphanet:254351", source="Orphanet:254351/attributed", source="Orphanet:254351/ntbt"} xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="Orphanet:254351/e"} xref: Orphanet:254351 {source="MONDO:equivalentTo", source="OMIM:613729"} @@ -267186,10 +274337,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013394 name: porencephaly-microcephaly-bilateral congenital cataract syndrome +subset: gard_rare {source="GARD:17380"} subset: ordo_malformation_syndrome {source="Orphanet:306547"} synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613730] synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730] synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:17380 {source="Orphanet:306547"} xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source="Orphanet:306547/e"} xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"} xref: UMLS:C3151000 {source="OMIM:613730", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -267202,7 +274355,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013395 name: retinitis pigmentosa 4 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010405"} +subset: gard_rare {source="GARD:10405"} synonym: "retinitis pigmentosa 4" EXACT [MONDO:Lexical, OMIM:613731] synonym: "retinitis pigmentosa 4, autosomal dominant or recessive" EXACT [OMIM:613731, OMIM:genemap2] synonym: "retinitis pigmentosa caused by mutation in RHO" EXACT [MONDO:design_pattern] @@ -267212,6 +274365,7 @@ synonym: "RHO retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/ synonym: "RP 4" RELATED [GARD:0010405] synonym: "RP4" EXACT ABBREVIATION [DOID:0110372, MONDO:Lexical, OMIM:613731] xref: DOID:0110372 {source="MONDO:equivalentTo"} +xref: GARD:10405 {source="OMIM:613731"} xref: HGNC:10012 {source="GARD:0010405"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110372"} xref: MESH:C566706 {source="MONDO:equivalentTo"} @@ -267229,6 +274383,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10405/retini id: MONDO:0013396 name: chromosome 1p32-p31 deletion syndrome def: "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." [Orphanet:401986] +subset: gard_rare {source="GARD:17668"} subset: ordo_malformation_syndrome {source="Orphanet:401986"} synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409] synonym: "brain malformations with or without urinary tract defects" RELATED [OMIM:613735] @@ -267237,6 +274392,7 @@ synonym: "chromosome 1p32-p31 deletion syndrome" EXACT CLINGEN_PREFERRED [OMIM:6 synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986] synonym: "monosomy 1p31p32" EXACT [Orphanet:401986] xref: DOID:0060409 {source="MONDO:equivalentTo"} +xref: GARD:17668 {source="Orphanet:401986"} xref: ICD10CM:Q93.5 {source="Orphanet:401986/attributed", source="Orphanet:401986/ntbt", source="Orphanet:401986", source="DOID:0060409"} xref: OMIM:613735 {source="Orphanet:401986", source="MONDO:includedEntryInOMIM", source="Orphanet:401986/e", source="DOID:0060409"} xref: Orphanet:401986 {source="MONDO:equivalentTo", source="OMIM:613735", source="DOID:0060409"} @@ -267300,6 +274456,7 @@ replaced_by: MONDO:0000911 id: MONDO:0013400 name: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency def: "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." [https://orcid.org/0000-0001-5208-3432, Orphanet:168558] +subset: gard_rare {source="GARD:17033"} subset: ordo_disease {source="Orphanet:168558"} synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [Orphanet:168558] synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [Orphanet:168558] @@ -267310,6 +274467,7 @@ synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743] synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558] synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558] xref: DOID:0050546 {source="MONDO:equivalentTo"} +xref: GARD:17033 {source="Orphanet:168558"} xref: ICD10CM:Q56.1 {source="Orphanet:168558", source="Orphanet:168558/attributed", source="Orphanet:168558/ntbt"} xref: MESH:C566130 {source="MONDO:equivalentTo"} xref: NCIT:C131422 {source="MONDO:equivalentTo"} @@ -267332,6 +274490,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013401 name: hereditary spastic paraplegia 51 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13737"} synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803] synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744] @@ -267343,6 +274502,7 @@ synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "spastic quadriplegic cerebral palsy 4" EXACT [DOID:0110803] synonym: "SPG51" EXACT ABBREVIATION [DOID:0110803, MONDO:Lexical, OMIM:613744] xref: DOID:0110803 {source="MONDO:equivalentTo"} +xref: GARD:13737 {source="OMIM:613744"} xref: OMIM:613744 {source="MONDO:equivalentTo", source="DOID:0110803"} xref: Orphanet:280763 {source="DOID:0110803", source="OMIM:613744"} xref: UMLS:C3151056 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613744"} @@ -267356,6 +274516,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013402 name: retinitis pigmentosa 27 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15700"} synonym: "NRL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [OMIM:613750] synonym: "retinitis pigmentosa 27" EXACT [MONDO:Lexical, OMIM:613750] @@ -267363,6 +274524,7 @@ synonym: "retinitis pigmentosa caused by mutation in NRL" EXACT [MONDO:design_pa synonym: "retinitis pigmentosa type 27" EXACT [DOID:0110397, MONDORULE:2, OMIM:613750] synonym: "RP27" EXACT ABBREVIATION [DOID:0110397, MONDO:Lexical, OMIM:613750] xref: DOID:0110397 {source="MONDO:equivalentTo"} +xref: GARD:15700 {source="OMIM:613750"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110397"} xref: MESH:C563526 {source="MONDO:equivalentTo"} xref: OMIM:613750 {source="MONDO:equivalentTo", source="DOID:0110397"} @@ -267394,12 +274556,14 @@ property_value: confidence "2.249999999999999" xsd:double id: MONDO:0013404 name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase def: "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." [Orphanet:88618] +subset: gard_rare {source="GARD:13177"} subset: ordo_disease {source="Orphanet:88618"} synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039, Orphanet:88618] synonym: "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" EXACT CLINGEN_PREFERRED [] synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [OMIM:613752] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039] xref: DOID:0111039 {source="MONDO:equivalentTo"} +xref: GARD:13177 {source="Orphanet:88618"} xref: ICD10CM:E72.1 {source="DOID:0111039", source="Orphanet:88618", source="Orphanet:88618/attributed", source="Orphanet:88618/ntbt"} xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="Orphanet:88618", source="Orphanet:88618/e"} xref: Orphanet:88618 {source="DOID:0111039", source="OMIM:613752", source="MONDO:equivalentTo"} @@ -267418,12 +274582,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013405 name: retinitis pigmentosa 49 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15701"} synonym: "CNGA1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 49" EXACT [MONDO:Lexical, OMIM:613756] synonym: "retinitis pigmentosa caused by mutation in CNGA1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 49" EXACT [DOID:0110377, MONDORULE:2, OMIM:613756] synonym: "RP49" EXACT ABBREVIATION [DOID:0110377, MONDO:Lexical, OMIM:613756] xref: DOID:0110377 {source="MONDO:equivalentTo"} +xref: GARD:15701 {source="OMIM:613756"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110377"} xref: OMIM:613756 {source="MONDO:equivalentTo", source="DOID:0110377"} xref: UMLS:C3151059 {source="MONDO:equivalentTo", source="OMIM:613756", source="MONDO:ncbi_mim2gene_medline"} @@ -267460,12 +274626,14 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013407 name: retinitis pigmentosa 47 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15702"} synonym: "retinitis pigmentosa 47" EXACT [MONDO:Lexical, OMIM:613758] synonym: "retinitis pigmentosa caused by mutation in SAG" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 47" EXACT [DOID:0110369, MONDORULE:2, OMIM:613758] synonym: "RP47" EXACT ABBREVIATION [DOID:0110369, MONDO:Lexical, OMIM:613758] synonym: "SAG retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110369 {source="MONDO:equivalentTo"} +xref: GARD:15702 {source="OMIM:613758"} xref: ICD10CM:H35.5 {source="DOID:0110369", source="MONDO:relatedTo"} xref: OMIM:613758 {source="DOID:0110369", source="MONDO:equivalentTo"} xref: UMLS:C3151061 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613758"} @@ -267478,11 +274646,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013408 name: FADD-related immunodeficiency def: "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." [Orphanet:306550] +subset: gard_rare {source="GARD:15004"} subset: ordo_disease {source="Orphanet:306550"} synonym: "Fadd deficiency" RELATED [OMIM:613759] synonym: "FADD-related immunodeficiency" EXACT CLINGEN_PREFERRED [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2] synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759] +xref: GARD:15004 {source="Orphanet:306550"} xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="Orphanet:306550/e"} xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} @@ -267519,6 +274689,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013410 name: 46,XY sex reversal 6 +subset: gard_rare {source="GARD:15703"} synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [OMIM:613762] synonym: "46,XY SEX reversal 6" RELATED [OMIM:613762] synonym: "46,XY sex reversal 6" EXACT [MONDO:Lexical, OMIM:613762] @@ -267527,6 +274698,7 @@ synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [OMIM synonym: "46XY sex reversal 6" EXACT [OMIM:613762, OMIM:genemap2] synonym: "SRXY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613762] xref: DOID:0111769 {source="MONDO:equivalentTo"} +xref: GARD:15703 {source="OMIM:613762"} xref: OMIM:613762 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:613762"} xref: Orphanet:251510 {source="OMIM:613762"} @@ -267595,12 +274767,14 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013413 name: retinitis pigmentosa 45 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15704"} synonym: "CNGB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 45" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613767] synonym: "retinitis pigmentosa caused by mutation in CNGB1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 45" EXACT [DOID:0110402, MONDORULE:2, OMIM:613767] synonym: "RP45" EXACT ABBREVIATION [DOID:0110402, MONDO:Lexical, OMIM:613767] xref: DOID:0110402 {source="MONDO:equivalentTo"} +xref: GARD:15704 {source="OMIM:613767"} xref: ICD10CM:H35.5 {source="DOID:0110402", source="MONDO:relatedTo"} xref: OMIM:613767 {source="DOID:0110402", source="MONDO:equivalentTo"} xref: UMLS:C3151066 {source="MONDO:equivalentTo", source="OMIM:613767", source="MONDO:ncbi_mim2gene_medline"} @@ -267616,12 +274790,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013414 name: retinitis pigmentosa 44 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15705"} synonym: "retinitis pigmentosa 44" EXACT [MONDO:Lexical, OMIM:613769] synonym: "retinitis pigmentosa caused by mutation in RGR" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 44" EXACT [DOID:0110394, MONDORULE:2, OMIM:613769] synonym: "RGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RP44" EXACT ABBREVIATION [DOID:0110394, MONDO:Lexical, OMIM:613769] xref: DOID:0110394 {source="MONDO:equivalentTo"} +xref: GARD:15705 {source="OMIM:613769"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110394"} xref: OMIM:613769 {source="MONDO:equivalentTo", source="DOID:0110394"} xref: UMLS:C3151068 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613769"} @@ -267669,6 +274845,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013417 name: complement component 3 deficiency def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." [NCIT:P378] +subset: gard_rare {source="GARD:16489"} subset: ordo_disease {source="Orphanet:280133"} synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133] @@ -267677,6 +274854,7 @@ synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779] synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779] xref: DOID:8354 {source="MONDO:equivalentTo"} +xref: GARD:16489 {source="Orphanet:280133"} xref: ICD10CM:D84.1 {source="Orphanet:280133", source="Orphanet:280133/attributed", source="Orphanet:280133/ntbt"} xref: MESH:C565169 {source="MONDO:equivalentTo"} xref: NCIT:C9468 {source="MONDO:equivalentTo", source="DOID:8354"} @@ -267694,10 +274872,12 @@ property_value: confidence "5.500000000000006" xsd:double [Term] id: MONDO:0013418 name: aortic aneurysm, familial thoracic 7 +subset: gard_rare {source="GARD:15706"} synonym: "AAT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613780] synonym: "aortic aneurysm, familial thoracic 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613780] synonym: "aortic aneurysm, familial thoracic type 7" EXACT [MONDORULE:1, OMIM:613780] synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED [OMIM:613780] +xref: GARD:15706 {source="OMIM:613780"} xref: OMIM:613780 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:613780"} xref: UMLS:C3151077 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613780"} @@ -267711,9 +274891,11 @@ property_value: confidence "0.014130103558823048" xsd:double id: MONDO:0013419 name: complement component C1s deficiency def: "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." [PMID:11390518] +subset: gard_rare {source="GARD:15707"} synonym: "C1s deficiency" RELATED [OMIM:613783] synonym: "C1SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613783] synonym: "complement component C1s deficiency" EXACT [MONDO:Lexical, OMIM:613783] +xref: GARD:15707 {source="OMIM:613783"} xref: MESH:C565170 {source="MONDO:equivalentTo"} xref: OMIM:613783 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="OMIM:613783"} @@ -267747,7 +274929,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013421 name: type II complement component 8 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010625"} +subset: gard_rare {source="GARD:10625"} synonym: "C8 Beta deficiency" RELATED [OMIM:613789] synonym: "C8 deficiency type II" RELATED [GARD:0010625] synonym: "C8 deficiency, type 2" RELATED [OMIM:613789] @@ -267763,6 +274945,7 @@ synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical, OM synonym: "complement component 8B deficiency" RELATED [OMIM:613789] synonym: "Human complement C8-beta deficiency" RELATED [GARD:0010625] xref: DOID:0060302 {source="MONDO:equivalentTo"} +xref: GARD:10625 {source="OMIM:613789"} xref: HGNC:1353 {source="GARD:0010625"} xref: ICD10CM:D84.1 {source="DOID:0060302"} xref: OMIM:613789 {source="MONDO:equivalentTo", source="DOID:0060302"} @@ -267781,7 +274964,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10625/comple id: MONDO:0013422 name: type I complement component 8 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010626"} +subset: gard_rare {source="GARD:10626"} synonym: "C8 Alpha-gamma deficiency" RELATED [OMIM:613790] synonym: "C8 deficiency type I" RELATED [GARD:0010626] synonym: "C8 deficiency, type 1" RELATED [OMIM:613790] @@ -267796,6 +274979,7 @@ synonym: "complement component 8 deficiency type I" RELATED [GARD:0010626] synonym: "complement component 8 deficiency, type 1" RELATED [OMIM:613790] synonym: "complement component 8 deficiency, type I" RELATED [MONDO:Lexical, OMIM:613790] xref: DOID:0060301 {source="MONDO:equivalentTo"} +xref: GARD:10626 {source="OMIM:613790"} xref: HGNC:1352 {source="GARD:0010626"} xref: ICD10CM:D84.1 {source="DOID:0060301"} xref: OMIM:613790 {source="DOID:0060301", source="MONDO:equivalentTo"} @@ -267814,10 +274998,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10626/comple id: MONDO:0013423 name: immunodeficiency due to MASP-2 deficiency def: "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." [Orphanet:331187] +subset: gard_rare {source="GARD:17512"} subset: ordo_disease {source="Orphanet:331187"} synonym: "immunodeficiency due to MASP-2 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791] synonym: "MASP2 deficiency" RELATED [OMIM:613791] +xref: GARD:17512 {source="Orphanet:331187"} xref: ICD10CM:D84.1 {source="Orphanet:331187", source="Orphanet:331187/attributed", source="Orphanet:331187/ntbt"} xref: MESH:C565360 {source="MONDO:equivalentTo"} xref: OMIM:613791 {source="Orphanet:331187", source="MONDO:equivalentTo", source="Orphanet:331187/e"} @@ -267832,7 +275018,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0013424 name: 3p- syndrome def: "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." [Orphanet:1620] -subset: gard_rare +subset: gard_rare {source="GARD:3750"} subset: ordo_malformation_syndrome {source="Orphanet:1620"} synonym: "3p deletion" RELATED [GARD:0000037] synonym: "3p monosomy" RELATED [GARD:0000037] @@ -267853,6 +275039,7 @@ synonym: "monosomy 3pter" EXACT [Orphanet:1620] synonym: "partial monosomy 3p" RELATED [GARD:0000037] synonym: "telomeric monosomy 3p" EXACT [Orphanet:1620] xref: DOID:0060417 {source="MONDO:equivalentTo"} +xref: GARD:3750 {source="Orphanet:1620"} xref: ICD10CM:Q93.5 {source="Orphanet:1620/attributed", source="Orphanet:1620/ntbt", source="Orphanet:1620", source="DOID:0060417"} xref: MESH:C536804 {source="MONDO:equivalentTo"} xref: NCIT:C41377 {source="MONDO:relatedTo"} @@ -267873,7 +275060,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013425 name: retinitis pigmentosa 20 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010404"} +subset: gard_rare {source="GARD:10404"} synonym: "retinitis pigmentosa 20" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613794] synonym: "retinitis pigmentosa caused by mutation in RPE65" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 20" EXACT [DOID:0110353, MONDORULE:2, OMIM:613794] @@ -267881,6 +275068,7 @@ synonym: "RP 20" RELATED [GARD:0010404] synonym: "RP20" EXACT ABBREVIATION [DOID:0110353, MONDO:Lexical, OMIM:613794] synonym: "RPE65 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110353 {source="MONDO:equivalentTo"} +xref: GARD:10404 {source="OMIM:613794"} xref: HGNC:10294 {source="GARD:0010404"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110353"} xref: MESH:C566718 {source="MONDO:equivalentTo"} @@ -267896,6 +275084,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10404/retini id: MONDO:0013426 name: aneurysm-osteoarthritis syndrome subset: clingen +subset: gard_rare {source="GARD:10997"} subset: ordo_disease {source="Orphanet:284984"} synonym: "aneurysm - osteoarthritis syndrome" RELATED [GARD:0010997] synonym: "aneurysm-osteoarthritis syndrome" EXACT CLINGEN_PREFERRED [] @@ -267909,6 +275098,7 @@ synonym: "Loeys-Dietz syndrome, type 1C (formerly)" RELATED DEPRECATED [GARD:001 synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:613795] synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997] xref: DOID:0070237 {source="MONDO:equivalentTo"} +xref: GARD:10997 {source="Orphanet:284984"} xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="Orphanet:284984/e"} xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"} xref: UMLS:C3151087 {source="OMIM:613795", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -267924,6 +275114,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013427 name: immunodeficiency 31B +subset: gard_rare {source="GARD:17612"} subset: ordo_disease {source="Orphanet:391311"} synonym: "IMD31B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613796] synonym: "immunodeficiency 31B" EXACT [MONDO:Lexical, OMIM:613796] @@ -267933,6 +275124,7 @@ synonym: "STAT1 deficiency" EXACT [Orphanet:391311] synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796] synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311] xref: DOID:0111944 {source="MONDO:equivalentTo"} +xref: GARD:17612 {source="Orphanet:391311"} xref: ICD10CM:D84.8 {source="Orphanet:391311/attributed", source="Orphanet:391311/ntbt", source="Orphanet:391311"} xref: OMIM:613796 {source="Orphanet:391311/e", source="MONDO:equivalentTo", source="Orphanet:391311"} xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"} @@ -267946,6 +275138,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013428 name: Meier-Gorlin syndrome 2 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15708"} synonym: "Meier-GORLIN syndrome 2" RELATED [OMIM:613800] synonym: "Meier-Gorlin syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613800] synonym: "Meier-Gorlin syndrome caused by mutation in ORC4" EXACT [MONDO:design_pattern] @@ -267953,6 +275146,7 @@ synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1, OMIM:613800] synonym: "MGORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613800] synonym: "ORC4 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080513 {source="MONDO:equivalentTo"} +xref: GARD:15708 {source="OMIM:613800"} xref: OMIM:613800 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613800"} xref: UMLS:C3151097 {source="MONDO:equivalentTo", source="OMIM:613800", source="MONDO:ncbi_mim2gene_medline"} @@ -267968,6 +275162,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013429 name: retinitis pigmentosa 40 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15709"} synonym: "PDE6B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 40" EXACT [MONDO:Lexical, OMIM:613801] synonym: "retinitis pigmentosa caused by mutation in PDE6B" EXACT [MONDO:design_pattern] @@ -267975,6 +275170,7 @@ synonym: "retinitis pigmentosa type 40" EXACT [DOID:0110375, MONDORULE:2, OMIM:6 synonym: "retinitis pigmentosa-40" EXACT [OMIM:613801, OMIM:genemap2] synonym: "RP40" EXACT ABBREVIATION [DOID:0110375, MONDO:Lexical, OMIM:613801] xref: DOID:0110375 {source="MONDO:equivalentTo"} +xref: GARD:15709 {source="OMIM:613801"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110375"} xref: OMIM:613801 {source="MONDO:equivalentTo", source="DOID:0110375"} xref: UMLS:C3151107 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613801"} @@ -267988,6 +275184,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013430 name: Meier-Gorlin syndrome 3 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15710"} synonym: "Meier-GORLIN syndrome 3" RELATED [OMIM:613803] synonym: "Meier-Gorlin syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613803] synonym: "Meier-Gorlin syndrome caused by mutation in ORC6" EXACT [MONDO:design_pattern] @@ -267995,6 +275192,7 @@ synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1, OMIM:613803] synonym: "MGORS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613803] synonym: "ORC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080514 {source="MONDO:equivalentTo"} +xref: GARD:15710 {source="OMIM:613803"} xref: OMIM:613803 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613803"} xref: UMLS:C3151113 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613803"} @@ -268010,6 +275208,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013431 name: Meier-Gorlin syndrome 4 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15711"} synonym: "CDT1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Meier-GORLIN syndrome 4" RELATED [OMIM:613804] synonym: "Meier-Gorlin syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613804] @@ -268017,6 +275216,7 @@ synonym: "Meier-Gorlin syndrome caused by mutation in CDT1" EXACT [MONDO:design_ synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1, OMIM:613804] synonym: "MGORS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613804] xref: DOID:0080515 {source="MONDO:equivalentTo"} +xref: GARD:15711 {source="OMIM:613804"} xref: OMIM:613804 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613804"} xref: UMLS:C3151120 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613804"} @@ -268032,6 +275232,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013432 name: Meier-Gorlin syndrome 5 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15712"} synonym: "CDC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Meier-GORLIN syndrome 5" RELATED [OMIM:613805] synonym: "Meier-Gorlin syndrome 5" EXACT [MONDO:Lexical, OMIM:613805] @@ -268039,6 +275240,7 @@ synonym: "Meier-Gorlin syndrome caused by mutation in CDC6" EXACT [MONDO:design_ synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1, OMIM:613805] synonym: "MGORS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613805] xref: DOID:0080516 {source="MONDO:equivalentTo"} +xref: GARD:15712 {source="OMIM:613805"} xref: OMIM:613805 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613805"} xref: UMLS:C3151126 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613805"} @@ -268054,10 +275256,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013433 name: primary sclerosing cholangitis def: "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." [Orphanet:171] +subset: gard_rare {source="GARD:1280"} subset: ordo_disease {source="Orphanet:171"} synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical, OMIM:613806] synonym: "PSC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613806, Orphanet:171] xref: DOID:0060643 {source="MONDO:equivalentTo"} +xref: GARD:1280 {source="Orphanet:171"} xref: ICD10CM:K83.0 {source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/ntbt"} xref: MedDRA:10036732 {source="Orphanet:171", source="Orphanet:171/e"} xref: MESH:C536419 {source="Orphanet:171", source="Orphanet:171/e"} @@ -268072,6 +275276,7 @@ property_value: confidence "15.500000000000014" xsd:double id: MONDO:0013434 name: primary ciliary dyskinesia 14 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15713"} synonym: "CCDC39 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD14" EXACT ABBREVIATION [DOID:0110598, MONDO:Lexical, OMIM:613807] synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical, OMIM:613807] @@ -268082,6 +275287,7 @@ synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in CCDC39" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 14" EXACT [DOID:0110598, MONDORULE:2] xref: DOID:0110598 {source="MONDO:equivalentTo"} +xref: GARD:15713 {source="OMIM:613807"} xref: ICD10CM:Q34.8 {source="DOID:0110598"} xref: NCIT:C148370 {source="MONDO:equivalentTo"} xref: OMIM:613807 {source="MONDO:equivalentTo", source="DOID:0110598"} @@ -268096,6 +275302,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013435 name: primary ciliary dyskinesia 15 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15714"} synonym: "CCDC40 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD15" EXACT ABBREVIATION [DOID:0110623, MONDO:Lexical, OMIM:613808] synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical, OMIM:613808] @@ -268106,6 +275313,7 @@ synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in CCDC40" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 15" EXACT [DOID:0110623, MONDORULE:2] xref: DOID:0110623 {source="MONDO:equivalentTo"} +xref: GARD:15714 {source="OMIM:613808"} xref: ICD10CM:Q34.8 {source="DOID:0110623"} xref: NCIT:C155999 {source="MONDO:equivalentTo"} xref: OMIM:613808 {source="DOID:0110623", source="MONDO:equivalentTo"} @@ -268120,12 +275328,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013436 name: retinitis pigmentosa 39 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15715"} synonym: "retinitis pigmentosa 39" EXACT [MONDO:Lexical, OMIM:613809] synonym: "retinitis pigmentosa caused by mutation in USH2A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 39" EXACT [DOID:0110360, MONDORULE:2, OMIM:613809] synonym: "RP39" EXACT ABBREVIATION [DOID:0110360, MONDO:Lexical, OMIM:613809] synonym: "USH2A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110360 {source="MONDO:equivalentTo"} +xref: GARD:15715 {source="OMIM:613809"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110360"} xref: OMIM:613809 {source="MONDO:equivalentTo", source="DOID:0110360"} xref: Orphanet:791 {source="OMIM:613809"} @@ -268137,12 +275347,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013437 name: retinitis pigmentosa 43 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15716"} synonym: "PDE6A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 43" EXACT [MONDO:Lexical, OMIM:613810] synonym: "retinitis pigmentosa caused by mutation in PDE6A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 43" EXACT [DOID:0110379, MONDORULE:2, OMIM:613810] synonym: "RP43" EXACT ABBREVIATION [DOID:0110379, MONDO:Lexical, OMIM:613810] xref: DOID:0110379 {source="MONDO:equivalentTo"} +xref: GARD:15716 {source="OMIM:613810"} xref: ICD10CM:H35.5 {source="DOID:0110379", source="MONDO:relatedTo"} xref: OMIM:613810 {source="DOID:0110379", source="MONDO:equivalentTo"} xref: UMLS:C3151139 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613810"} @@ -268155,6 +275367,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013438 name: pontocerebellar hypoplasia type 2D def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15717"} synonym: "cerebello-cerebral atrophy, progressive" RELATED [OMIM:613811] synonym: "Cerebellocerebral atrophy, progressive" RELATED [OMIM:613811] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS" EXACT [MONDO:design_pattern] @@ -268163,6 +275376,7 @@ synonym: "pontocerebellar hypoplasia type 2D" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical, OMIM:613811] synonym: "SEPSECS non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060270 {source="MONDO:equivalentTo"} +xref: GARD:15717 {source="OMIM:613811"} xref: ICD10CM:Q04.3 {source="DOID:0060270"} xref: OMIM:613811 {source="MONDO:equivalentTo", source="DOID:0060270"} xref: Orphanet:2524 {source="OMIM:613811", source="DOID:0060270"} @@ -268178,6 +275392,7 @@ property_value: confidence "40.66666666666664" xsd:double id: MONDO:0013439 name: congenital bile acid synthesis defect 3 def: "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." [Orphanet:79302] +subset: gard_rare {source="GARD:16713"} subset: ordo_disease {source="Orphanet:79302"} synonym: "BASD3" EXACT ABBREVIATION [Orphanet:79302] synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMIM:613812] @@ -268188,6 +275403,7 @@ synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MON synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302] xref: DOID:0111070 {source="MONDO:equivalentTo"} +xref: GARD:16713 {source="Orphanet:79302"} xref: ICD10CM:K76.8 {source="DOID:0111070", source="Orphanet:79302/attributed", source="Orphanet:79302/ntbt", source="Orphanet:79302"} xref: MESH:C566340 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} xref: OMIM:613812 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} @@ -268207,6 +275423,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013440 name: autosomal recessive limb-girdle muscular dystrophy type 2P def: "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." [Orphanet:280333] +subset: gard_rare {source="GARD:12541"} subset: ordo_disease {source="Orphanet:280333"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" EXACT [MONDO:design_pattern] synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -268219,6 +275436,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATE synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [DOID:0110293] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818] xref: DOID:0110293 {source="MONDO:equivalentTo"} +xref: GARD:12541 {source="Orphanet:280333"} xref: ICD10CM:G71.0 {source="DOID:0110293", source="Orphanet:280333", source="Orphanet:280333/attributed", source="Orphanet:280333/ntbt"} xref: OMIM:613818 {source="Orphanet:280333/e", source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333"} xref: Orphanet:280333 {source="DOID:0110293", source="MONDO:equivalentTo", source="OMIM:613818"} @@ -268236,12 +275454,14 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0013441 name: asphyxiating thoracic dystrophy 4 def: "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." [DOID:0110088, PMID:21258341] +subset: gard_rare {source="GARD:15718"} synonym: "asphyxiating thoracic dystrophy 4" EXACT [OMIM:613819] synonym: "asphyxiating thoracic dystrophy type 4" EXACT [DOID:0110088, MONDORULE:1] synonym: "ATD4" EXACT ABBREVIATION [DOID:0110088] synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [DOID:0110088, MONDO:Lexical, OMIM:613819] synonym: "SRTD4" EXACT ABBREVIATION [DOID:0110088, MONDO:Lexical, OMIM:613819] xref: DOID:0110088 {source="MONDO:equivalentTo"} +xref: GARD:15718 {source="OMIM:613819"} xref: ICD10CM:Q77.2 {source="DOID:0110088"} xref: OMIM:613819 {source="MONDO:equivalentTo", source="DOID:0110088"} xref: Orphanet:474 {source="OMIM:613819"} @@ -268276,12 +275496,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013443 name: Seckel syndrome 5 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15719"} synonym: "CEP152 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL5" EXACT ABBREVIATION [DOID:0070012, MONDO:Lexical, OMIM:613823] synonym: "Seckel syndrome 5" EXACT [MONDO:Lexical, OMIM:613823] synonym: "Seckel syndrome caused by mutation in CEP152" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1, OMIM:613823] xref: DOID:0070012 {source="MONDO:equivalentTo"} +xref: GARD:15719 {source="OMIM:613823"} xref: OMIM:613823 {source="DOID:0070012", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:613823"} xref: UMLS:C3151187 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613823"} @@ -268317,12 +275539,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013445 name: complement component 9 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18292"} synonym: "C9 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C9 deficiency" RELATED [OMIM:613825] synonym: "C9D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613825] synonym: "classic complement early component deficiency caused by mutation in C9" EXACT [MONDO:design_pattern] synonym: "complement component 9 deficiency" EXACT [MONDO:Lexical, OMIM:613825] xref: DOID:0060303 {source="MONDO:equivalentTo"} +xref: GARD:18292 {source="OMIM:613825"} xref: ICD10CM:D84.1 {source="DOID:0060303"} xref: MESH:C565165 {source="MONDO:equivalentTo"} xref: OMIM:613825 {source="DOID:0060303", source="MONDO:equivalentTo"} @@ -268339,13 +275563,14 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0013446 name: Leber congenital amaurosis 6 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010490"} +subset: gard_rare {source="GARD:10490"} synonym: "LCA6" EXACT ABBREVIATION [DOID:0110329, MONDO:Lexical, OMIM:613826] synonym: "Leber congenital amaurosis 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613826] synonym: "Leber congenital amaurosis caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 6" EXACT [DOID:0110329, MONDORULE:1, OMIM:613826] synonym: "RPGRIP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110329 {source="MONDO:equivalentTo"} +xref: GARD:10490 {source="OMIM:613826"} xref: HGNC:13436 {source="GARD:0010490"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110329"} xref: MESH:C565327 {source="MONDO:equivalentTo"} @@ -268361,12 +275586,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10490/leber- id: MONDO:0013447 name: retinitis pigmentosa 48 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15720"} synonym: "GUCA1B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 48" EXACT [MONDO:Lexical, OMIM:613827] synonym: "retinitis pigmentosa caused by mutation in GUCA1B" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 48" EXACT [DOID:0110382, MONDORULE:2, OMIM:613827] synonym: "RP48" EXACT ABBREVIATION [DOID:0110382, MONDO:Lexical, OMIM:613827] xref: DOID:0110382 {source="MONDO:equivalentTo"} +xref: GARD:15720 {source="OMIM:613827"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110382"} xref: OMIM:613827 {source="MONDO:equivalentTo", source="DOID:0110382"} xref: UMLS:C3151190 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613827"} @@ -268378,10 +275605,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013448 name: generalized epilepsy with febrile seizures plus, type 8 +subset: gard_rare {source="GARD:18664"} synonym: "Gefs+, type 8" RELATED [OMIM:613828] synonym: "GEFSP8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613828] synonym: "generalized epilepsy with febrile seizures plus, type 8" EXACT [MONDO:Lexical, OMIM:613828] xref: DOID:0111299 {source="MONDO:equivalentTo"} +xref: GARD:18664 {source="OMIM:613828"} xref: OMIM:613828 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:613828"} xref: UMLS:C3151191 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613828"} @@ -268391,13 +275620,14 @@ is_a: MONDO:0018214 {source="DC-OMIM:613828", source="OMIM:613828"} ! generalize id: MONDO:0013449 name: Leber congenital amaurosis 7 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010880"} +subset: gard_rare {source="GARD:10880"} synonym: "CRX Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA7" EXACT ABBREVIATION [DOID:0110333, MONDO:Lexical, OMIM:613829] synonym: "Leber congenital amaurosis 7" EXACT [MONDO:Lexical, OMIM:613829] synonym: "Leber congenital amaurosis caused by mutation in CRX" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 7" EXACT [DOID:0110333, MONDORULE:1, OMIM:613829] xref: DOID:0110333 {source="MONDO:equivalentTo"} +xref: GARD:10880 {source="OMIM:613829"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110333"} xref: OMIM:613829 {source="MONDO:equivalentTo", source="DOID:0110333"} xref: Orphanet:65 {source="OMIM:613829"} @@ -268412,6 +275642,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10880/leber- id: MONDO:0013450 name: congenital stationary night blindness 1D def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15721"} synonym: "congenital stationary night blindness 1D" EXACT CLINGEN_PREFERRED [] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [DOID:0110868] synonym: "congenital stationary night blindness caused by mutation in SLC24A1" EXACT [MONDO:design_pattern] @@ -268422,6 +275653,7 @@ synonym: "night blindness, congenital stationary (complete), 1D, autosomal reces synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical, OMIM:613830] synonym: "SLC24A1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110868 {source="MONDO:equivalentTo"} +xref: GARD:15721 {source="OMIM:613830"} xref: OMIM:613830 {source="DOID:0110868", source="MONDO:equivalentTo"} xref: UMLS:C3151193 {source="OMIM:613830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016293 {source="DC-OMIM:613830", source="DOID:0110868", source="MONDO:Redundant", source="OMIM:613830"} ! congenital stationary night blindness @@ -268444,11 +275676,12 @@ replaced_by: MONDO:0011835 id: MONDO:0013452 name: multisystemic smooth muscle dysfunction syndrome def: "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." [https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome] -subset: gard_rare {source="GARD:0012811"} +subset: gard_rare {source="GARD:12811"} subset: ordo_disease {source="Orphanet:404463"} synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [GARD:0012811] synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834] synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834] +xref: GARD:12811 {source="Orphanet:404463"} xref: ICD10CM:I73.8 {source="Orphanet:404463", source="Orphanet:404463/attributed", source="Orphanet:404463/ntbt"} xref: OMIM:613834 {source="Orphanet:404463/e", source="MONDO:equivalentTo", source="Orphanet:404463"} xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"} @@ -268464,13 +275697,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12811/multis id: MONDO:0013453 name: Leber congenital amaurosis 8 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010881"} +subset: gard_rare {source="GARD:10881"} synonym: "CRB1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA8" EXACT ABBREVIATION [DOID:0110079, MONDO:Lexical, OMIM:613835] synonym: "Leber congenital amaurosis 8" EXACT [MONDO:Lexical, OMIM:613835] synonym: "Leber congenital amaurosis caused by mutation in CRB1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 8" EXACT [DOID:0110079, MONDORULE:1, OMIM:613835] xref: DOID:0110079 {source="MONDO:equivalentTo"} +xref: GARD:10881 {source="OMIM:613835"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110079"} xref: OMIM:613835 {source="MONDO:equivalentTo", source="DOID:0110079"} xref: UMLS:C3151202 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613835"} @@ -268486,7 +275720,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10881/leber- id: MONDO:0013454 name: Leber congenital amaurosis 11 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010488"} +subset: gard_rare {source="GARD:10488"} synonym: "amaurosis congenita of Leber, type 11" RELATED [GARD:0010488] synonym: "IMPDH1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA11" EXACT ABBREVIATION [DOID:0110216, MONDO:Lexical, OMIM:613837] @@ -268494,6 +275728,7 @@ synonym: "Leber congenital amaurosis 11" EXACT [MONDO:Lexical, OMIM:613837] synonym: "Leber congenital amaurosis caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 11" EXACT [DOID:0110216, MONDORULE:2, OMIM:613837] xref: DOID:0110216 {source="MONDO:equivalentTo"} +xref: GARD:10488 {source="OMIM:613837"} xref: HGNC:6052 {source="GARD:0010488"} xref: ICD10CM:H35.5 {source="DOID:0110216", source="MONDO:relatedTo"} xref: MESH:C564140 {source="MONDO:equivalentTo"} @@ -268534,11 +275769,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013456 name: constitutional megaloblastic anemia with severe neurologic disease +subset: gard_rare {source="GARD:11000"} subset: ordo_disease {source="Orphanet:319651"} synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651] synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651] synonym: "megaloblastic anaemia due to dihydrofolate reductase deficiency" RELATED OMO:0003005 [] synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839] +xref: GARD:11000 {source="Orphanet:319651"} xref: ICD10CM:D52.8 {source="Orphanet:319651", source="Orphanet:319651/attributed", source="Orphanet:319651/ntbt"} xref: MESH:C565095 {source="MONDO:equivalentTo"} xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="Orphanet:319651/e"} @@ -268555,7 +275792,7 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0013457 name: Leber congenital amaurosis 15 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010884"} +subset: gard_rare {source="GARD:10884"} synonym: "LCA15" EXACT ABBREVIATION [DOID:0110189, MONDO:Lexical, OMIM:613843] synonym: "Leber congenital amaurosis 15" EXACT [MONDO:Lexical, OMIM:613843] synonym: "Leber congenital amaurosis caused by mutation in TULP1" EXACT [MONDO:design_pattern] @@ -268563,6 +275800,7 @@ synonym: "Leber congenital amaurosis type 15" EXACT [DOID:0110189, MONDORULE:2, synonym: "retinitis pigmentosa, juvenile, Tulp1-related" RELATED [OMIM:613843] synonym: "TULP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110189 {source="MONDO:equivalentTo"} +xref: GARD:10884 {source="OMIM:613843"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110189"} xref: OMIM:613843 {source="MONDO:equivalentTo", source="DOID:0110189"} xref: UMLS:C1838603 {source="MONDO:relatedTo", source="OMIM:613843"} @@ -268576,12 +275814,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10884/leber- [Term] id: MONDO:0013458 name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome +subset: gard_rare {source="GARD:17569"} subset: ordo_disease {source="Orphanet:363694"} synonym: "HUPRA syndrome" EXACT [Orphanet:363694] synonym: "Hupra syndrome" RELATED [OMIM:613845] synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613845] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [OMIM:613845, OMIM:genemap2] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845] +xref: GARD:17569 {source="Orphanet:363694"} xref: ICD10CM:N15.8 {source="Orphanet:363694", source="Orphanet:363694/attributed", source="Orphanet:363694/ntbt"} xref: OMIM:613845 {source="Orphanet:363694", source="MONDO:equivalentTo", source="Orphanet:363694/e"} xref: Orphanet:363694 {source="MONDO:equivalentTo", source="OMIM:613845"} @@ -268598,6 +275838,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013459 name: osteogenesis imperfecta type 10 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12874"} synonym: "OI type 10" RELATED [GARD:0012874] synonym: "OI type X" RELATED [GARD:0012874] synonym: "OI, type 10" RELATED [OMIM:613848] @@ -268608,6 +275849,7 @@ synonym: "osteogenesis imperfecta, type 10" RELATED [OMIM:613848] synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical, OMIM:613848] synonym: "SERPINH1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110346 {source="MONDO:equivalentTo"} +xref: GARD:12874 {source="OMIM:613848"} xref: ICD10CM:Q78.0 {source="DOID:0110346"} xref: OMIM:613848 {source="DOID:0110346", source="MONDO:equivalentTo"} xref: Orphanet:216812 {source="OMIM:613848", source="MONDO:directSiblingOf"} @@ -268623,6 +275865,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013460 name: osteogenesis imperfecta type 12 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15722"} synonym: "OI, type 12" RELATED [OMIM:613849] synonym: "OI12" EXACT ABBREVIATION [DOID:0110348, MONDO:Lexical, OMIM:613849] synonym: "osteogenesis imperfecta caused by mutation in SP7" EXACT [MONDO:design_pattern] @@ -268631,6 +275874,7 @@ synonym: "osteogenesis imperfecta, type 12" RELATED [OMIM:613849] synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical, OMIM:613849] synonym: "SP7 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110348 {source="MONDO:equivalentTo"} +xref: GARD:15722 {source="OMIM:613849"} xref: ICD10CM:Q78.0 {source="DOID:0110348"} xref: OMIM:613849 {source="DOID:0110348", source="MONDO:equivalentTo"} xref: Orphanet:216820 {source="MONDO:directSiblingOf", source="OMIM:613849"} @@ -268701,12 +275945,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013464 name: episodic ataxia type 5 def: "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." [Orphanet:211067] +subset: gard_rare {source="GARD:17113"} subset: ordo_disease {source="Orphanet:211067"} synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613855] synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855] synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern] xref: DOID:0050993 {source="MONDO:equivalentTo"} +xref: GARD:17113 {source="Orphanet:211067"} xref: ICD10CM:G11.8 {source="Orphanet:211067", source="Orphanet:211067/attributed", source="Orphanet:211067/ntbt"} xref: MESH:C566601 {source="MONDO:equivalentTo"} xref: OMIM:613855 {source="Orphanet:211067", source="DOID:0050993", source="MONDO:equivalentTo", source="Orphanet:211067/e"} @@ -268723,12 +275969,14 @@ property_value: confidence "14.833333333333332" xsd:double id: MONDO:0013465 name: achromatopsia 4 def: "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15723"} synonym: "ACHM4" EXACT ABBREVIATION [DOID:0110010, MONDO:Lexical, OMIM:613856] synonym: "achromatopsia 4" EXACT [MONDO:Lexical, OMIM:613856] synonym: "achromatopsia caused by mutation in GNAT2" EXACT [MONDO:design_pattern] synonym: "achromatopsia type 4" EXACT [DOID:0110010, MONDORULE:1, OMIM:613856] synonym: "GNAT2 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110010 {source="MONDO:equivalentTo"} +xref: GARD:15723 {source="OMIM:613856"} xref: MESH:C564206 {source="MONDO:equivalentTo"} xref: OMIM:613856 {source="MONDO:equivalentTo", source="DOID:0110010"} xref: Orphanet:49382 {source="OMIM:613856"} @@ -268758,11 +276006,13 @@ property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0013467 name: immunodeficiency due to ficolin3 deficiency +subset: gard_rare {source="GARD:17513"} subset: ordo_disease {source="Orphanet:331190"} synonym: "Fcn3 deficiency" RELATED [OMIM:613860] synonym: "ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860] +xref: GARD:17513 {source="Orphanet:331190"} xref: ICD10CM:D84.1 {source="Orphanet:331190", source="Orphanet:331190/attributed", source="Orphanet:331190/ntbt"} xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="Orphanet:331190/e"} xref: Orphanet:331190 {source="OMIM:613860", source="MONDO:equivalentTo"} @@ -268777,6 +276027,7 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0013468 name: retinitis pigmentosa 59 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15724"} synonym: "congenital disorder of glycosylation, type 1bb" EXACT [OMIM:613861, OMIM:genemap2] synonym: "congenital disorder of glycosylation, type Ibb" RELATED [OMIM:613861] synonym: "DHDDS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -268785,6 +276036,7 @@ synonym: "retinitis pigmentosa caused by mutation in DHDDS" EXACT [MONDO:design_ synonym: "retinitis pigmentosa type 59" EXACT [DOID:0110352, MONDORULE:2, OMIM:613861] synonym: "RP59" EXACT ABBREVIATION [DOID:0110352, MONDO:Lexical, OMIM:613861] xref: DOID:0110352 {source="MONDO:equivalentTo"} +xref: GARD:15724 {source="OMIM:613861"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110352"} xref: OMIM:613861 {source="MONDO:equivalentTo", source="DOID:0110352"} xref: UMLS:C3151227 {source="OMIM:613861", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -268798,6 +276050,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013469 name: retinitis pigmentosa 38 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15725"} synonym: "MERTK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 38" EXACT [MONDO:Lexical, OMIM:613862] synonym: "retinitis pigmentosa caused by mutation in MERTK" EXACT [MONDO:design_pattern] @@ -268805,6 +276058,7 @@ synonym: "retinitis pigmentosa type 38" EXACT [DOID:0110367, MONDORULE:2, OMIM:6 synonym: "Rod-cone dystrophy, childhood-onset" RELATED [OMIM:613862] synonym: "RP38" EXACT ABBREVIATION [DOID:0110367, MONDO:Lexical, OMIM:613862] xref: DOID:0110367 {source="MONDO:equivalentTo"} +xref: GARD:15725 {source="OMIM:613862"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110367"} xref: OMIM:613862 {source="MONDO:equivalentTo", source="DOID:0110367"} xref: UMLS:C3151228 {source="OMIM:613862", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -268820,6 +276074,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013470 name: generalized epilepsy with febrile seizures plus, type 7 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18665"} synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863] synonym: "Gefs+, type 7" RELATED [OMIM:613863] synonym: "GEFSP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613863] @@ -268829,6 +276084,7 @@ synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO: synonym: "SCN9A generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] synonym: "SCN9A generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111295 {source="MONDO:equivalentTo"} +xref: GARD:18665 {source="OMIM:613863"} xref: MESH:C567827 {source="MONDO:equivalentTo"} xref: OMIM:613863 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:613863"} @@ -268844,6 +276100,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013471 name: autosomal recessive nonsyndromic hearing loss 61 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22639"} synonym: "autosomal recessive deafness 61" NARROW [DOID:0110513] synonym: "autosomal recessive nonsyndromic deafness 61" NARROW [OMIM:613865] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" NARROW [MONDO:design_pattern] @@ -268853,6 +276110,7 @@ synonym: "deafness, autosomal recessive type 61" NARROW [MONDORULE:2, OMIM:61386 synonym: "DFNB61" NARROW ABBREVIATION [DOID:0110513, MONDO:Lexical, OMIM:613865] synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110513 {source="MONDO:equivalentTo"} +xref: GARD:22639 {source="OMIM:613865"} xref: ICD10CM:H90.3 {source="DOID:0110513"} xref: OMIM:613865 {source="DOID:0110513", source="MONDO:equivalentTo"} xref: UMLS:C3151230 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613865"} @@ -268866,6 +276124,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013472 name: fatal infantile hypertonic myofibrillar myopathy +subset: gard_rare {source="GARD:17296"} subset: ordo_disease {source="Orphanet:280553"} synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098, OMIM:613869] synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [Orphanet:280553] @@ -268873,6 +276132,7 @@ synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [ synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098] synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] xref: DOID:0080309 {source="MONDO:equivalentTo"} +xref: GARD:17296 {source="Orphanet:280553"} xref: ICD10CM:G71.2 {source="Orphanet:280553", source="Orphanet:280553/attributed", source="Orphanet:280553/ntbt"} xref: OMIM:613869 {source="Orphanet:280553/e", source="MONDO:equivalentTo", source="Orphanet:280553", source="DOID:0080309"} xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"} @@ -268993,6 +276253,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013478 name: PLIN1-related familial partial lipodystrophy +subset: gard_rare {source="GARD:12601"} subset: ordo_disease {source="Orphanet:280356"} synonym: "familial partial lipodystrophy associated with PLIN1 mutations" RELATED [GARD:0012601] synonym: "familial partial lipodystrophy type 4" RELATED [GARD:0012601] @@ -269002,6 +276263,7 @@ synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELA synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM:613877] synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356] xref: DOID:0070205 {source="MONDO:equivalentTo"} +xref: GARD:12601 {source="Orphanet:280356"} xref: ICD10CM:E88.1 {source="Orphanet:280356/attributed", source="Orphanet:280356/ntbt", source="Orphanet:280356"} xref: OMIM:613877 {source="Orphanet:280356/e", source="MONDO:equivalentTo", source="Orphanet:280356"} xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"} @@ -269016,6 +276278,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013479 name: dilated cardiomyopathy 1HH def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15726"} synonym: "BAG3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical, OMIM:613881] synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9, OMIM:613881] @@ -269023,6 +276286,7 @@ synonym: "CMD1HH" EXACT ABBREVIATION [DOID:0110448, MONDO:Lexical, OMIM:613881] synonym: "dilated cardiomyopathy type 1HH" EXACT [DOID:0110448, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in BAG3" EXACT [MONDO:design_pattern] xref: DOID:0110448 {source="MONDO:equivalentTo"} +xref: GARD:15726 {source="OMIM:613881"} xref: ICD10CM:I42.0 {source="DOID:0110448"} xref: OMIM:613881 {source="DOID:0110448", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:613881"} @@ -269034,7 +276298,6 @@ property_value: confidence "0.19999999999999973" xsd:double [Term] id: MONDO:0013480 name: renal hypomagnesemia 6 -subset: gard_rare {source="GARD:0012155"} synonym: "HOMG6" EXACT ABBREVIATION [DOID:0060884, MONDO:Lexical, OMIM:613882] synonym: "hypomagnesemia 6, renal" RELATED [MONDO:Lexical, OMIM:613882] synonym: "renal hypomagnesemia type 6" EXACT [DOID:0060884, MONDORULE:1] @@ -269054,6 +276317,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12155/renal- id: MONDO:0013481 name: chromosome 13q14 deletion syndrome def: "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." [Orphanet:1587] +subset: gard_rare {source="GARD:16570"} subset: ordo_malformation_syndrome {source="Orphanet:1587"} synonym: "chromosome 13Q deletion syndrome" RELATED [OMIM:613884] synonym: "chromosome 13q14 deletion syndrome" EXACT [OMIM:613884] @@ -269064,6 +276328,7 @@ synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587] synonym: "monosomy 13q14" RELATED [Orphanet:1587] synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587] xref: DOID:0060391 {source="MONDO:equivalentTo"} +xref: GARD:16570 {source="Orphanet:1587"} xref: ICD10CM:Q93.5 {source="Orphanet:1587/attributed", source="Orphanet:1587/ntbt", source="Orphanet:1587", source="DOID:0060391"} xref: MESH:C535484 {source="MONDO:relatedTo"} xref: NCIT:C36421 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} @@ -269087,6 +276352,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013482 name: Meckel syndrome, type 8 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15727"} synonym: "Meckel syndrome 8" RELATED [DOID:0070122] synonym: "Meckel syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613885] @@ -269094,6 +276360,7 @@ synonym: "Meckel-Gruber syndrome, type 8" EXACT [DOID:0070122] synonym: "MKS8" EXACT ABBREVIATION [DOID:0070122, MONDO:Lexical, OMIM:613885] synonym: "TCTN2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070122 {source="MONDO:equivalentTo"} +xref: GARD:15727 {source="OMIM:613885"} xref: ICD10CM:Q61.9 {source="DOID:0070122"} xref: OMIM:613885 {source="DOID:0070122", source="MONDO:equivalentTo"} xref: Orphanet:564 {source="OMIM:613885"} @@ -269142,11 +276409,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013485 name: spinocerebellar ataxia type 35 def: "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." [Orphanet:276193] +subset: gard_rare {source="GARD:12366"} subset: ordo_disease {source="Orphanet:276193"} synonym: "SCA35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613908, Orphanet:276193] synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908] synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908] xref: DOID:0050982 {source="MONDO:equivalentTo"} +xref: GARD:12366 {source="Orphanet:276193"} xref: ICD10CM:G11.8 {source="Orphanet:276193/attributed", source="Orphanet:276193/ntbt", source="Orphanet:276193"} xref: OMIM:613908 {source="DOID:0050982", source="Orphanet:276193/e", source="MONDO:equivalentTo", source="Orphanet:276193"} xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"} @@ -269163,10 +276432,12 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0013486 name: spinocerebellar ataxia type 32 def: "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." [Orphanet:276183] +subset: gard_rare {source="GARD:17276"} subset: ordo_disease {source="Orphanet:276183"} synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183] synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183] synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909] +xref: GARD:17276 {source="Orphanet:276183"} xref: ICD10CM:G11.8 {source="Orphanet:276183/attributed", source="Orphanet:276183/ntbt", source="Orphanet:276183"} xref: OMIM:613909 {source="Orphanet:276183/e", source="MONDO:equivalentTo", source="Orphanet:276183"} xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"} @@ -269179,11 +276450,13 @@ property_value: confidence "3.0625" xsd:double [Term] id: MONDO:0013487 name: recurrent Neisseria infections due to factor D deficiency +subset: gard_rare {source="GARD:17055"} subset: ordo_disease {source="Orphanet:169467"} synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613912] synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912] synonym: "factor D deficiency" RELATED [OMIM:613912] synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:17055 {source="Orphanet:169467"} xref: ICD10CM:D84.1 {source="Orphanet:169467", source="Orphanet:169467/attributed", source="Orphanet:169467/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565027 {source="MONDO:equivalentTo"} @@ -269211,6 +276484,7 @@ id: MONDO:0013489 name: autosomal recessive nonsyndromic hearing loss 89 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22640"} synonym: "autosomal recessive deafness 89" NARROW [DOID:0110534] synonym: "autosomal recessive nonsyndromic deafness 89" NARROW CLINGEN_PREFERRED [OMIM:613916] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" NARROW [MONDO:design_pattern] @@ -269220,6 +276494,7 @@ synonym: "deafness, autosomal recessive type 89" NARROW [MONDORULE:2, OMIM:61391 synonym: "DFNB89" NARROW ABBREVIATION [DOID:0110534, MONDO:Lexical, OMIM:613916] synonym: "KARS autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110534 {source="MONDO:equivalentTo"} +xref: GARD:22640 {source="OMIM:613916"} xref: ICD10CM:H90.3 {source="DOID:0110534"} xref: OMIM:613916 {source="DOID:0110534", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:613916"} @@ -269234,10 +276509,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013490 name: megalencephalic leukoencephalopathy with subcortical cysts 2A +subset: gard_rare {source="GARD:15728"} synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A" EXACT [MONDO:Lexical, OMIM:613925] synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 2A" EXACT [MONDORULE:4, OMIM:613925] synonym: "MLC2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613925] xref: DOID:0080318 {source="MONDO:equivalentTo"} +xref: GARD:15728 {source="OMIM:613925"} xref: OMIM:613925 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:613925"} xref: UMLS:C3151355 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613925"} @@ -269249,10 +276526,12 @@ property_value: confidence "2.069473684210526" xsd:double [Term] id: MONDO:0013491 name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability +subset: gard_rare {source="GARD:15729"} synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" EXACT [MONDO:Lexical, OMIM:613926] synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:613926] synonym: "MLC2B" RELATED DEPRECATED [MONDO:Lexical, OMIM:613926] xref: DOID:0080317 {source="MONDO:equivalentTo"} +xref: GARD:15729 {source="OMIM:613926"} xref: OMIM:613926 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:613926"} xref: UMLS:C3151356 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613926"} @@ -269264,10 +276543,12 @@ property_value: confidence "2.069473684210526" xsd:double [Term] id: MONDO:0013492 name: alopecia-intellectual disability syndrome 3 +subset: gard_rare {source="GARD:15730"} synonym: "alopecia-intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:613930] synonym: "alopecia-mental retardation syndrome 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613930] synonym: "APMR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613930] xref: DOID:0080951 {source="MONDO:equivalentTo"} +xref: GARD:15730 {source="OMIM:613930"} xref: OMIM:613930 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:613930"} xref: UMLS:C3151362 {source="OMIM:613930", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269299,6 +276580,7 @@ replaced_by: MONDO:0100226 id: MONDO:0013495 name: autosomal recessive congenital ichthyosis 8 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16457"} synonym: "ARCI8" EXACT ABBREVIATION [DOID:0060717, MONDO:Lexical, OMIM:613943] synonym: "autosomal recessive congenital ichthyosis type 8" EXACT [DOID:0060717, MONDORULE:1] synonym: "ichthyosis, congenital, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:613943] @@ -269309,6 +276591,7 @@ synonym: "lamellar ichthyosis 4" EXACT [DOID:0060717] synonym: "lamellar ichthyosis, late-onset" RELATED [OMIM:613943] synonym: "late-onset lamellar ichthyosis" EXACT [DOID:0060717] xref: DOID:0060717 {source="MONDO:equivalentTo"} +xref: GARD:16457 {source="OMIM:613943"} xref: ICD10CM:Q80.2 {source="DOID:0060717"} xref: OMIM:613943 {source="MONDO:equivalentTo", source="DOID:0060717"} xref: Orphanet:313 {source="OMIM:613943"} @@ -269369,6 +276652,7 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0013499 name: Fanconi anemia complementation group P def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15731"} synonym: "Fanconi anaemia caused by mutation in SLX4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia caused by mutation in Slx4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type P" EXACT OMO:0003005 [] @@ -269383,6 +276667,7 @@ synonym: "Slx4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "SLX4 Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Slx4 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111092 {source="MONDO:equivalentTo"} +xref: GARD:15731 {source="OMIM:613951"} xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"} xref: UMLS:C1428293 {source="OMIM:613951", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3469542 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -269395,6 +276680,7 @@ property_value: confidence "2.5000000000000036" xsd:double [Term] id: MONDO:0013500 name: immunodeficiency 51 +subset: gard_rare {source="GARD:15732"} synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [OMIM:613953] synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] @@ -269403,6 +276689,7 @@ synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1, OMIM:6 synonym: "IMD51" RELATED ABBREVIATION [OMIM:613953] synonym: "immunodeficiency 51" EXACT CLINGEN_PREFERRED [OMIM:613953] xref: DOID:0111996 {source="MONDO:equivalentTo"} +xref: GARD:15732 {source="OMIM:613953"} xref: OMIM:613953 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="MONDO:relatedTo", source="OMIM:613953"} xref: UMLS:C3151402 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613953"} @@ -269416,6 +276703,7 @@ property_value: confidence "2.323076923076922" xsd:double id: MONDO:0013501 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15733"} synonym: "ALS14" RELATED EXCLUDE [DOID:0060205, MONDO:Lexical, OMIM:613954] synonym: "amyotrophic lateral sclerosis 14" RELATED EXCLUDE [DOID:0060205, OMIM:613954] synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" RELATED EXCLUDE [MONDO:Lexical, OMIM:613954] @@ -269423,6 +276711,7 @@ synonym: "amyotrophic lateral sclerosis caused by mutation in VCP" EXACT [MONDO: synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205, OMIM:613954] synonym: "VCP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060205 {source="MONDO:equivalentTo"} +xref: GARD:15733 {source="OMIM:613954"} xref: OMIM:613954 {source="MONDO:equivalentTo", source="DOID:0060205"} xref: Orphanet:275872 {source="OMIM:613954"} xref: Orphanet:803 {source="OMIM:613954"} @@ -269438,11 +276727,13 @@ property_value: confidence "0.028571428571429136" xsd:double [Term] id: MONDO:0013502 name: amyloidosis, primary localized cutaneous, 2 +subset: gard_rare {source="GARD:18638"} synonym: "amyloidosis, primary localised cutaneous, type 2" EXACT OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous, 2" EXACT [MONDO:Lexical, OMIM:613955] synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1, OMIM:613955] synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613955] xref: DOID:0080931 {source="MONDO:equivalentTo"} +xref: GARD:18638 {source="OMIM:613955"} xref: OMIM:613955 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="OMIM:613955"} xref: UMLS:C3151404 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613955"} @@ -269456,6 +276747,7 @@ property_value: confidence "1.6470588235294117" xsd:double id: MONDO:0013503 name: candidiasis, familial, 6 def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15093"} synonym: "CANDF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613956] synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:613956] synonym: "candidiasis, familial, 6" EXACT [MONDO:Lexical, OMIM:613956] @@ -269463,6 +276755,7 @@ synonym: "candidiasis, familial, 6, autosomal dominant" EXACT [OMIM:613956, OMIM synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1, OMIM:613956] synonym: "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" EXACT [MONDO:design_pattern] synonym: "IL17F familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15093 {source="OMIM:613956"} xref: OMIM:613956 {source="MONDO:equivalentTo"} xref: UMLS:C3151405 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613956"} is_a: MONDO:0015279 {source="MONDO:Redundant", source="OMIM:613956"} ! chronic mucocutaneous candidiasis @@ -269476,12 +276769,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013504 name: spermatogenic failure 8 def: "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15734"} synonym: "azoospermia caused by mutation in NR5A1" EXACT [MONDO:design_pattern] synonym: "NR5A1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 8" EXACT [MONDO:Lexical, OMIM:613957] synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1, OMIM:613957] synonym: "SPGF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613957] xref: DOID:0070169 {source="MONDO:equivalentTo"} +xref: GARD:15734 {source="OMIM:613957"} xref: OMIM:613957 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:613957"} xref: UMLS:C3151406 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613957"} @@ -269497,6 +276792,7 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0013505 name: spermatogenic failure 9 def: "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15735"} synonym: "azoospermia caused by mutation in DPY19L2" EXACT [MONDO:design_pattern] synonym: "DPY19L2 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "globozoospermia, complete" RELATED [OMIM:613958] @@ -269506,6 +276802,7 @@ synonym: "spermatogenic failure type 9" EXACT [MONDORULE:1, OMIM:613958] synonym: "SPGF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613958] xref: DOID:0070175 {source="MONDO:equivalentObsolete"} xref: DOID:0111156 {source="MONDO:equivalentTo"} +xref: GARD:15735 {source="OMIM:613958"} xref: OMIM:613958 {source="MONDO:equivalentTo"} xref: Orphanet:171709 {source="OMIM:613958"} xref: Orphanet:399808 {source="OMIM:613958"} @@ -269538,6 +276835,7 @@ property_value: confidence "12.333333333333332" xsd:double [Term] id: MONDO:0013507 name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +subset: gard_rare {source="GARD:15736"} synonym: "CDG3" RELATED ABBREVIATION [OMIM:613960] synonym: "CGD, autosomal recessive cytochrome B-positive, type 3" RELATED [OMIM:613960] synonym: "chronic granulomatous disease 3, autosomal recessive" EXACT [OMIM:613960, OMIM:genemap2] @@ -269545,6 +276843,7 @@ synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-posi synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III" RELATED [OMIM:613960] synonym: "granulomatous disease, chronic, due to Ncf4 deficiency" RELATED [OMIM:613960] xref: DOID:0070194 {source="MONDO:equivalentTo"} +xref: GARD:15736 {source="OMIM:613960"} xref: OMIM:613960 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:613960"} xref: UMLS:C3151409 {source="OMIM:613960", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269567,6 +276866,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013509 name: intellectual disability, autosomal dominant 6 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12851"} synonym: "autosomal dominant intellectual disability 6" EXACT [DOID:0070036] synonym: "autosomal dominant mental retardation 6" EXACT DEPRECATED [DOID:0070036] synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [DOID:0070036] @@ -269581,6 +276881,7 @@ synonym: "mental retardation, autosomal dominant 6, with or without seizures" RE synonym: "mental retardation, autosomal dominant type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:613970] synonym: "MRD6" EXACT ABBREVIATION [DOID:0070036, MONDO:Lexical, OMIM:613970] xref: DOID:0070036 {source="MONDO:equivalentTo"} +xref: GARD:12851 {source="OMIM:613970"} xref: OMIM:613970 {source="DOID:0070036", source="MONDO:equivalentTo"} xref: UMLS:C3151411 {source="OMIM:613970", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:613970"} ! intellectual disability, autosomal dominant @@ -269594,12 +276895,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013510 name: melanoma, cutaneous malignant, susceptibility to, 6 +subset: gard_rare {source="GARD:18580"} subset: predisposition synonym: "CMM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613972] synonym: "melanoma, cutaneous malignant, 6" EXACT [OMIM:613972, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613972] synonym: "melanoma, cutaneous malignant, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613972] synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [OMIM:613972] +xref: GARD:18580 {source="OMIM:613972"} xref: OMIM:613972 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613972"} xref: UMLS:C3151417 {source="OMIM:613972", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -269628,6 +276931,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013512 name: hemoglobin H disease def: "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." [Orphanet:93616] +subset: gard_rare {source="GARD:16829"} subset: ordo_clinical_subtype {source="Orphanet:93616"} synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031] @@ -269648,6 +276952,7 @@ synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031] synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [OMIM:613978, OMIM:genemap2] synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978] xref: DOID:0110031 {source="MONDO:equivalentTo"} +xref: GARD:16829 {source="Orphanet:93616"} xref: ICD10CM:D56.0 {source="DOID:0110031", source="Orphanet:93616/attributed", source="Orphanet:93616/ntbt", source="Orphanet:93616"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063435 {source="Orphanet:93616/e", source="Orphanet:93616"} @@ -269667,11 +276972,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013513 name: atrial fibrillation, familial, 9 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15737"} synonym: "ATFB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613980] synonym: "atrial fibrillation, familial, 9" EXACT [MONDO:Lexical, OMIM:613980] synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1, OMIM:613980] synonym: "familial atrial fibrillation caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] synonym: "KCNJ2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15737 {source="OMIM:613980"} xref: OMIM:613980 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:613980"} xref: UMLS:C3151431 {source="OMIM:613980", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269684,6 +276991,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013514 name: hypotrichosis 3 def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18094"} synonym: "Htss2" EXACT [DOID:0110700] synonym: "hypotrichosis 3" EXACT [MONDO:Lexical, OMIM:613981] synonym: "hypotrichosis caused by mutation in KRT74" EXACT [MONDO:design_pattern] @@ -269693,6 +277001,7 @@ synonym: "HYPT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613981] synonym: "hypt3" EXACT [DOID:0110700] synonym: "KRT74 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110700 {source="MONDO:equivalentTo"} +xref: GARD:18094 {source="OMIM:613981"} xref: OMIM:613981 {source="DOID:0110700", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="OMIM:613981"} xref: UMLS:C3151432 {source="OMIM:613981", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269707,6 +277016,7 @@ property_value: confidence "1.4959742351046694" xsd:double id: MONDO:0013515 name: osteogenesis imperfecta type 6 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:8700"} synonym: "OI type 6" RELATED [GARD:0008700] synonym: "OI type VI" RELATED [GARD:0008700] synonym: "OI6" EXACT ABBREVIATION [DOID:0110350, MONDO:Lexical, OMIM:613982] @@ -269718,6 +277028,7 @@ synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical, OMIM:613982] synonym: "SERPINF1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SERPINFI- related osteogenesis imperfecta" RELATED [GARD:0008700] xref: DOID:0110350 {source="MONDO:equivalentTo"} +xref: GARD:8700 {source="OMIM:613982"} xref: ICD10CM:Q78.0 {source="DOID:0110350"} xref: MESH:C536047 {source="MONDO:equivalentTo"} xref: OMIM:613982 {source="MONDO:equivalentTo", source="DOID:0110350"} @@ -269735,12 +277046,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013516 name: retinitis pigmentosa 60 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15738"} synonym: "PRPF6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 60" EXACT [MONDO:Lexical, OMIM:613983] synonym: "retinitis pigmentosa caused by mutation in PRPF6" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 60" EXACT [DOID:0110411, MONDORULE:2, OMIM:613983] synonym: "RP60" EXACT ABBREVIATION [DOID:0110411, MONDO:Lexical, OMIM:613983] xref: DOID:0110411 {source="MONDO:equivalentTo"} +xref: GARD:15738 {source="OMIM:613983"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110411"} xref: OMIM:613983 {source="MONDO:equivalentTo", source="DOID:0110411"} xref: UMLS:C3151434 {source="OMIM:613983", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269772,11 +277085,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013518 name: pituitary hormone deficiency, combined, 6 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16520"} synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2" EXACT [MONDO:design_pattern] synonym: "CPHD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613986] synonym: "OTX2 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pituitary hormone deficiency, combined, 6" EXACT [MONDO:Lexical, OMIM:613986] synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OMIM:613986] +xref: GARD:16520 {source="OMIM:613986"} xref: OMIM:613986 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="OMIM:613986"} xref: UMLS:C3151440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613986"} @@ -269790,11 +277105,13 @@ property_value: confidence "1.1441176470588243" xsd:double id: MONDO:0013519 name: dyskeratosis congenita, autosomal recessive 2 def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." [DOID:0070017] +subset: gard_rare {source="GARD:15739"} synonym: "autosomal recessive dyskeratosis congenita 2" RELATED [DOID:0070017] synonym: "DKCB2" EXACT ABBREVIATION [DOID:0070017, MONDO:Lexical, OMIM:613987] synonym: "dyskeratosis congenita, autosomal recessive 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613987] synonym: "dyskeratosis congenita, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:613987] xref: DOID:0070017 {source="MONDO:equivalentTo"} +xref: GARD:15739 {source="OMIM:613987"} xref: NCIT:C176926 {source="MONDO:equivalentTo"} xref: OMIM:613987 {source="MONDO:equivalentTo", source="DOID:0070017"} xref: Orphanet:1775 {source="OMIM:613987"} @@ -269809,11 +277126,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013520 name: dyskeratosis congenita, autosomal recessive 3 def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." [DOID:0070019] +subset: gard_rare {source="GARD:15740"} synonym: "autosomal recessive dyskeratosis congenita 3" RELATED [DOID:0070019] synonym: "DKCB3" EXACT ABBREVIATION [DOID:0070019, MONDO:Lexical, OMIM:613988] synonym: "dyskeratosis congenita, autosomal recessive 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613988] synonym: "dyskeratosis congenita, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:613988] xref: DOID:0070019 {source="MONDO:equivalentTo"} +xref: GARD:15740 {source="OMIM:613988"} xref: NCIT:C176927 {source="MONDO:equivalentTo"} xref: OMIM:613988 {source="MONDO:equivalentTo", source="DOID:0070019"} xref: Orphanet:1775 {source="OMIM:613988"} @@ -269828,12 +277147,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013521 name: dyskeratosis congenita, autosomal dominant 2 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33." [DOID:0070016] +subset: gard_rare {source="GARD:15741"} synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [DOID:0070016] synonym: "DKCA2" EXACT ABBREVIATION [DOID:0070016, MONDO:Lexical, OMIM:613989] synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613989] synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:613989] synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [OMIM:613989] xref: DOID:0070016 {source="MONDO:equivalentTo"} +xref: GARD:15741 {source="OMIM:613989"} xref: NCIT:C176922 {source="MONDO:equivalentTo"} xref: OMIM:613989 {source="DOID:0070016", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:613989"} @@ -269851,11 +277172,13 @@ property_value: confidence "0.8958333333333335" xsd:double id: MONDO:0013522 name: dyskeratosis congenita, autosomal dominant 3 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." [DOID:0070018] +subset: gard_rare {source="GARD:15742"} synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [DOID:0070018] synonym: "DKCA3" EXACT ABBREVIATION [DOID:0070018, MONDO:Lexical, OMIM:613990] synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:613990] synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:613990] xref: DOID:0070018 {source="MONDO:equivalentTo"} +xref: GARD:15742 {source="OMIM:613990"} xref: NCIT:C176923 {source="MONDO:equivalentTo"} xref: OMIM:613990 {source="MONDO:equivalentTo", source="DOID:0070018"} xref: Orphanet:1775 {source="OMIM:613990"} @@ -269871,13 +277194,14 @@ property_value: confidence "0.8958333333333335" xsd:double [Term] id: MONDO:0013523 name: Nestor-Guillermo progeria syndrome -subset: gard_rare {source="GARD:0011008"} +subset: gard_rare {source="GARD:11008"} subset: ordo_malformation_syndrome {source="Orphanet:280576"} synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008] synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576] synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008] synonym: "PSCOO" RELATED ABBREVIATION [GARD:0011008] xref: DOID:0081334 {source="MONDO:equivalentTo"} +xref: GARD:11008 {source="Orphanet:280576"} xref: ICD10CM:E34.8 {source="Orphanet:280576/attributed", source="Orphanet:280576/ntbt", source="Orphanet:280576"} xref: OMIM:614008 {source="Orphanet:280576/e", source="MONDO:equivalentTo", source="Orphanet:280576"} xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"} @@ -269894,6 +277218,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor [Term] id: MONDO:0013524 name: obsolete bleeding diathesis due to thromboxane synthesis deficiency +xref: GARD:17132 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419#issuecomment-1615253065" xsd:anyURI is_obsolete: true @@ -269904,6 +277229,7 @@ consider: MONDO:0800447 id: MONDO:0013525 name: primary ciliary dyskinesia 16 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15743"} synonym: "CILD16" EXACT ABBREVIATION [DOID:0110613, MONDO:Lexical, OMIM:614017] synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical, OMIM:614017] synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [OMIM:614017] @@ -269913,6 +277239,7 @@ synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in DNAL1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 16" EXACT [DOID:0110613, MONDORULE:2] xref: DOID:0110613 {source="MONDO:equivalentTo"} +xref: GARD:15743 {source="OMIM:614017"} xref: ICD10CM:Q34.8 {source="DOID:0110613"} xref: OMIM:614017 {source="DOID:0110613", source="MONDO:equivalentTo"} xref: UMLS:C3151460 {source="OMIM:614017", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -269925,6 +277252,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013526 name: progressive myoclonic epilepsy type 6 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:3872"} subset: ordo_disease {source="Orphanet:280620"} synonym: "epilepsy, progressive myoclonic 6" EXACT [OMIM:614018, OMIM:genemap2] synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:614018] @@ -269937,6 +277265,7 @@ synonym: "PME type 6" EXACT [Orphanet:280620] synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] xref: DOID:0111449 {source="MONDO:equivalentTo"} +xref: GARD:3872 {source="Orphanet:280620"} xref: ICD10CM:G40.3 {source="Orphanet:280620/attributed", source="Orphanet:280620/ntbt", source="Orphanet:280620"} xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"} xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"} @@ -269977,6 +277306,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013528 name: intellectual disability, autosomal recessive 14 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22549"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 14" EXACT [MONDO:Lexical, OMIM:614020] synonym: "intellectual disability, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:614020] @@ -269985,6 +277315,7 @@ synonym: "mental retardation, autosomal recessive type 14" EXACT DEPRECATED [MON synonym: "MRT14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614020] synonym: "TECR autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081188 {source="MONDO:equivalentTo"} +xref: GARD:22549 {source="OMIM:614020"} xref: OMIM:614020 {source="MONDO:equivalentTo"} xref: UMLS:C3151462 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614020"} is_a: MONDO:0019502 {source="DC-OMIM:614020", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability @@ -269997,6 +277328,7 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013529 name: catecholaminergic polymorphic ventricular tachycardia 3 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15744"} synonym: "catecholaminergic polymorphic ventricular tachycardia 3" EXACT CLINGEN_PREFERRED [] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL" EXACT [MONDO:design_pattern] synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [DOID:0060677, MONDORULE:1] @@ -270005,6 +277337,7 @@ synonym: "CVPT3" EXACT ABBREVIATION [DOID:0060677] synonym: "TECRL catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical, OMIM:614021] xref: DOID:0060677 {source="MONDO:equivalentTo"} +xref: GARD:15744 {source="OMIM:614021"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060677"} xref: OMIM:614021 {source="DOID:0060677", source="MONDO:equivalentTo"} xref: Orphanet:3286 {source="OMIM:614021"} @@ -270018,11 +277351,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013530 name: atrial fibrillation, familial, 10 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15745"} synonym: "ATFB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614022] synonym: "atrial fibrillation, familial, 10" EXACT [MONDO:Lexical, OMIM:614022] synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2, OMIM:614022] synonym: "familial atrial fibrillation caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "SCN5A familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15745 {source="OMIM:614022"} xref: OMIM:614022 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:614022"} xref: UMLS:C3151464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614022"} @@ -270035,12 +277370,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013531 name: PSPH deficiency def: "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." [Orphanet:79350] +subset: gard_rare {source="GARD:16717"} subset: ordo_disease {source="Orphanet:79350"} synonym: "3-phosphoserine phosphatase deficiency" RELATED [Orphanet:79350] synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023] synonym: "PSPH deficiency" EXACT CLINGEN_PREFERRED [] synonym: "PSPHD" EXACT ABBREVIATION [DOID:0050724, MONDO:Lexical, OMIM:614023] xref: DOID:0050724 {source="MONDO:equivalentTo"} +xref: GARD:16717 {source="Orphanet:79350"} xref: ICD10CM:E72.8 {source="Orphanet:79350", source="Orphanet:79350/attributed", source="Orphanet:79350/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614023 {source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350", source="Orphanet:79350/e"} @@ -270068,6 +277405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013533 name: hyperlipidemia due to hepatic triglyceride lipase deficiency def: "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." [Orphanet:140905] +subset: gard_rare {source="GARD:12864"} subset: ordo_disease {source="Orphanet:140905"} synonym: "hepatic lipase deficiency" RELATED [OMIM:614025] synonym: "HL deficiency" RELATED [OMIM:614025] @@ -270076,6 +277414,7 @@ synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELAT synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905] synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905] synonym: "lipc deficiency" RELATED [OMIM:614025] +xref: GARD:12864 {source="Orphanet:140905"} xref: ICD10CM:E78.4 {source="Orphanet:140905", source="Orphanet:140905/attributed", source="Orphanet:140905/ntbt"} xref: OMIM:614025 {source="Orphanet:140905", source="MONDO:equivalentTo", source="Orphanet:140905/e"} xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"} @@ -270088,9 +277427,11 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0013534 name: apolipoprotein c-III deficiency +subset: gard_rare {source="GARD:18076"} synonym: "apolipoprotein c-III deficiency" EXACT [OMIM:614028] synonym: "hyperalphalipoproteinemia 2" RELATED [OMIM:614028] xref: DOID:0111370 {source="MONDO:equivalentTo"} +xref: GARD:18076 {source="OMIM:614028"} xref: MESH:C566270 {source="MONDO:equivalentTo"} xref: OMIM:614028 {source="MONDO:equivalentTo"} xref: Orphanet:79506 {source="OMIM:614028"} @@ -270116,10 +277457,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013536 name: heme oxygenase 1 deficiency +subset: gard_rare {source="GARD:17995"} subset: ordo_disease synonym: "heme oxygenase 1 deficiency" EXACT [MONDO:Lexical, OMIM:614034] synonym: "heme oxygenase-1 deficiency" EXACT [OMIM:614034, OMIM:genemap2] synonym: "HMOX1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614034] +xref: GARD:17995 {source="Orphanet:562509"} xref: MESH:C564200 {source="MONDO:equivalentTo"} xref: OMIM:614034 {source="MONDO:equivalentTo"} xref: Orphanet:562509 {source="MONDO:equivalentTo"} @@ -270133,6 +277476,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013537 name: autosomal recessive nonsyndromic hearing loss 29 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22641"} synonym: "autosomal recessive deafness 29" NARROW [DOID:0110487] synonym: "autosomal recessive nonsyndromic deafness 29" NARROW CLINGEN_PREFERRED [OMIM:614035] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" NARROW [MONDO:design_pattern] @@ -270142,6 +277486,7 @@ synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical, OMIM:614035, synonym: "deafness, autosomal recessive type 29" NARROW [MONDORULE:2, OMIM:614035] synonym: "DFNB29" NARROW ABBREVIATION [DOID:0110487, MONDO:Lexical, OMIM:614035] xref: DOID:0110487 {source="MONDO:equivalentTo"} +xref: GARD:22641 {source="OMIM:614035"} xref: ICD10CM:H90.3 {source="DOID:0110487"} xref: OMIM:614035 {source="MONDO:equivalentTo", source="DOID:0110487"} xref: Orphanet:90636 {source="OMIM:614035"} @@ -270172,9 +277517,11 @@ is_obsolete: true id: MONDO:0013539 name: hypotonia-failure to thrive-microcephaly syndrome def: "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." [Orphanet:79507] +subset: gard_rare {source="GARD:16725"} subset: ordo_disease {source="Orphanet:79507"} synonym: "leukotriene C4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] synonym: "LTC4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] +xref: GARD:16725 {source="Orphanet:79507"} xref: MESH:C565439 {source="MONDO:equivalentTo"} xref: OMIM:614037 {source="MONDO:equivalentTo", source="Orphanet:79507", source="Orphanet:79507/e"} xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"} @@ -270189,11 +277536,12 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0013540 name: deafness-lymphedema-leukemia syndrome def: "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." [Orphanet:3226] -subset: gard_rare {source="GARD:0013030"} +subset: gard_rare {source="GARD:13030"} subset: ordo_malformation_syndrome {source="Orphanet:3226"} synonym: "deafness-lymphedema-leukemia syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226] synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038] +xref: GARD:13030 {source="Orphanet:3226"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614038 {source="Orphanet:3226", source="MONDO:equivalentTo", source="Orphanet:3226/e"} xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"} @@ -270213,6 +277561,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13030/deafne id: MONDO:0013541 name: complex cortical dysplasia with other brain malformations 1 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13032"} subset: ordo_disease {source="Orphanet:300570"} synonym: "CDCBM1" EXACT ABBREVIATION [DOID:0090137, MONDO:Lexical, OMIM:614039] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern] @@ -270222,6 +277571,7 @@ synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039] synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090137 {source="MONDO:equivalentTo"} +xref: GARD:13032 {source="Orphanet:300570"} xref: ICD10CM:Q04.3 {source="DOID:0090137", source="Orphanet:300570/attributed", source="Orphanet:300570/ntbt", source="Orphanet:300570"} xref: OMIM:614039 {source="Orphanet:300570/e", source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570"} xref: Orphanet:300570 {source="OMIM:614039", source="MONDO:equivalentTo", source="DOID:0090137"} @@ -270238,11 +277588,13 @@ property_value: confidence "13.769230769230768" xsd:double id: MONDO:0013542 name: Moyamoya disease 5 def: "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15746"} synonym: "ACTA2 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Moyamoya disease 5" EXACT [MONDO:Lexical, OMIM:614042] synonym: "Moyamoya disease caused by mutation in ACTA2" EXACT [MONDO:design_pattern] synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1, OMIM:614042] synonym: "MYMY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614042] +xref: GARD:15746 {source="OMIM:614042"} xref: OMIM:614042 {source="MONDO:equivalentTo"} xref: Orphanet:2573 {source="OMIM:614042"} xref: UMLS:C3279690 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614042"} @@ -270267,11 +277619,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013544 name: atrial fibrillation, familial, 11 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15747"} synonym: "ATFB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614049] synonym: "atrial fibrillation, familial, 11" EXACT [MONDO:Lexical, OMIM:614049] synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2, OMIM:614049] synonym: "familial atrial fibrillation caused by mutation in GJA5" EXACT [MONDO:design_pattern] synonym: "GJA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15747 {source="OMIM:614049"} xref: OMIM:614049 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:614049"} xref: UMLS:C3279693 {source="OMIM:614049", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -270284,11 +277638,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013545 name: atrial fibrillation, familial, 12 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15748"} synonym: "ABCC9 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ATFB12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614050] synonym: "atrial fibrillation, familial, 12" EXACT [MONDO:Lexical, OMIM:614050] synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2, OMIM:614050] synonym: "familial atrial fibrillation caused by mutation in ABCC9" EXACT [MONDO:design_pattern] +xref: GARD:15748 {source="OMIM:614050"} xref: OMIM:614050 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:614050"} xref: UMLS:C3279695 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614050"} @@ -270301,6 +277657,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013546 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 def: "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." [Orphanet:1194] +subset: gard_rare {source="GARD:16561"} subset: ordo_disease {source="Orphanet:1194"} synonym: "3-MGCA type IV (3-MGCA-4) (formerly)" RELATED [GARD:0012965] synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [OMIM:614052] @@ -270315,6 +277672,7 @@ synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase def synonym: "TMEM70 defect" RELATED [GARD:0012965] synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194] xref: DOID:0060331 {source="MONDO:equivalentTo"} +xref: GARD:16561 {source="Orphanet:1194"} xref: ICD10CM:G71.3 {source="DOID:0060331", source="Orphanet:1194/attributed", source="Orphanet:1194/ntbt", source="Orphanet:1194"} xref: MESH:C567528 {source="MONDO:equivalentTo"} xref: OMIM:614052 {source="Orphanet:1194/e", source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194"} @@ -270330,6 +277688,7 @@ property_value: confidence "2.0" xsd:double id: MONDO:0013547 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18666"} synonym: "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MC5DN3" EXACT ABBREVIATION [DOID:0060332, MONDO:Lexical, OMIM:614053] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [OMIM:614053] @@ -270337,6 +277696,7 @@ synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" REL synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:614053] synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E" EXACT [MONDO:design_pattern] xref: DOID:0060332 {source="MONDO:equivalentTo"} +xref: GARD:18666 {source="OMIM:614053"} xref: ICD10CM:E88.8 {source="DOID:0060332"} xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="DOID:0060332", source="OMIM:614053"} @@ -270385,6 +277745,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013550 name: distal myopathy with posterior leg and anterior hand involvement def: "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." [Orphanet:63273] +subset: gard_rare {source="GARD:16666"} subset: ordo_disease {source="Orphanet:63273"} synonym: "distal ABD-filaminopathy" EXACT [Orphanet:63273] synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614065] @@ -270392,6 +277753,7 @@ synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065] synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065] synonym: "Williams distal myopathy" RELATED [OMIM:614065] xref: DOID:0111190 {source="MONDO:equivalentTo"} +xref: GARD:16666 {source="Orphanet:63273"} xref: ICD10CM:G71.0 {source="Orphanet:63273/attributed", source="Orphanet:63273/ntbt", source="Orphanet:63273"} xref: OMIM:614065 {source="Orphanet:63273/e", source="MONDO:equivalentTo", source="Orphanet:63273"} xref: Orphanet:63273 {source="MONDO:equivalentTo", source="OMIM:614065"} @@ -270407,6 +277769,7 @@ property_value: confidence "0.20000000000000018" xsd:double id: MONDO:0013551 name: hereditary spastic paraplegia 47 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15749"} synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799] synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066] @@ -270419,6 +277782,7 @@ synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "spastic quadriplegic cerebral palsy 5" EXACT [DOID:0110799] synonym: "SPG47" EXACT ABBREVIATION [DOID:0110799, MONDO:Lexical, OMIM:614066] xref: DOID:0110799 {source="MONDO:equivalentTo"} +xref: GARD:15749 {source="OMIM:614066"} xref: NCIT:C164224 {source="MONDO:equivalentTo"} xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="DOID:0110799", source="OMIM:614066"} @@ -270433,6 +277797,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013552 name: hereditary spastic paraplegia 52 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15750"} synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804] synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067] @@ -270445,6 +277810,7 @@ synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "spastic quadriplegic cerebral palsy 6" EXACT [DOID:0110804] synonym: "SPG52" EXACT ABBREVIATION [DOID:0110804, MONDO:Lexical, OMIM:614067] xref: DOID:0110804 {source="MONDO:equivalentTo"} +xref: GARD:15750 {source="OMIM:614067"} xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="DOID:0110804", source="OMIM:614067"} xref: UMLS:C3279743 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614067"} @@ -270458,6 +277824,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013553 name: immunodeficiency-centromeric instability-facial anomalies syndrome 2 def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15751"} synonym: "ICF syndrome 2" EXACT [DOID:0090009] synonym: "ICF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614069] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614069] @@ -270466,6 +277833,7 @@ synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome typ synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [DOID:0090009, MONDORULE:1] synonym: "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090009 {source="MONDO:equivalentTo"} +xref: GARD:15751 {source="OMIM:614069"} xref: ICD10CM:D84.8 {source="DOID:0090009"} xref: OMIM:614069 {source="MONDO:equivalentTo", source="DOID:0090009"} xref: Orphanet:2268 {source="OMIM:614069"} @@ -270503,12 +277871,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013555 name: Hermansky-Pudlak syndrome 3 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18333"} synonym: "Hermansky-Pudlak syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614072] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072] synonym: "HPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614072] synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060541 {source="MONDO:equivalentTo"} +xref: GARD:18333 {source="OMIM:614072"} xref: OMIM:614072 {source="DOID:0060541", source="MONDO:equivalentTo"} xref: Orphanet:231512 {source="OMIM:614072"} xref: Orphanet:79430 {source="OMIM:614072"} @@ -270525,12 +277895,14 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0013556 name: Hermansky-Pudlak syndrome 4 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18332"} synonym: "Hermansky-Pudlak syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614073] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS4" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 4" EXACT [DOID:0060542, MONDORULE:1, OMIM:614073] synonym: "HPS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614073] synonym: "HPS4 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060542 {source="MONDO:equivalentTo"} +xref: GARD:18332 {source="OMIM:614073"} xref: OMIM:614073 {source="DOID:0060542", source="MONDO:equivalentTo"} xref: Orphanet:231500 {source="OMIM:614073"} xref: Orphanet:79430 {source="OMIM:614073"} @@ -270546,12 +277918,14 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0013557 name: Hermansky-Pudlak syndrome 5 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18334"} synonym: "Hermansky-Pudlak syndrome 5" EXACT [MONDO:Lexical, OMIM:614074] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS5" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 5" EXACT [DOID:0060543, MONDORULE:1, OMIM:614074] synonym: "HPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614074] synonym: "HPS5 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060543 {source="MONDO:equivalentTo"} +xref: GARD:18334 {source="OMIM:614074"} xref: OMIM:614074 {source="DOID:0060543", source="MONDO:equivalentTo"} xref: Orphanet:231512 {source="OMIM:614074"} xref: Orphanet:79430 {source="OMIM:614074"} @@ -270568,12 +277942,14 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0013558 name: Hermansky-Pudlak syndrome 6 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18335"} synonym: "Hermansky-Pudlak syndrome 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614075] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS6" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 6" EXACT [DOID:0060544, MONDORULE:1, OMIM:614075] synonym: "HPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614075] synonym: "HPS6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060544 {source="MONDO:equivalentTo"} +xref: GARD:18335 {source="OMIM:614075"} xref: NCIT:C150369 {source="MONDO:equivalentTo"} xref: OMIM:614075 {source="MONDO:equivalentTo", source="DOID:0060544"} xref: Orphanet:231512 {source="OMIM:614075"} @@ -270591,6 +277967,7 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0013559 name: Hermansky-Pudlak syndrome 7 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18336", source="GARD:17170"} subset: ordo_clinical_subtype {source="Orphanet:231531"} synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614076] @@ -270598,6 +277975,8 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:d synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076] synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076, Orphanet:231531] xref: DOID:0060545 {source="MONDO:equivalentTo"} +xref: GARD:17170 {source="Orphanet:231531"} +xref: GARD:18336 {source="OMIM:614076"} xref: ICD10CM:E70.3 {source="Orphanet:231531/attributed", source="Orphanet:231531/ntbt", source="MONDO:relatedTo", source="Orphanet:231531"} xref: OMIM:614076 {source="Orphanet:231531", source="DOID:0060545", source="MONDO:equivalentTo", source="Orphanet:231531/e"} xref: Orphanet:231531 {source="MONDO:equivalentTo", source="OMIM:614076"} @@ -270613,6 +277992,7 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0013560 name: Hermansky-Pudlak syndrome 8 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18337"} subset: ordo_clinical_subtype {source="Orphanet:231537"} synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614077] @@ -270620,6 +278000,7 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO: synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077] synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077, Orphanet:231537] xref: DOID:0060546 {source="MONDO:equivalentTo"} +xref: GARD:18337 {source="OMIM:614077"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231537", source="Orphanet:231537/attributed", source="Orphanet:231537/ntbt"} xref: OMIM:614077 {source="Orphanet:231537/e", source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537"} xref: Orphanet:231537 {source="MONDO:equivalentObsolete", source="OMIM:614077"} @@ -270636,10 +278017,12 @@ property_value: confidence "6.142857142857142" xsd:double [Term] id: MONDO:0013561 name: chondrodysplasia with joint dislocations, gPAPP type +subset: gard_rare {source="GARD:11009"} subset: ordo_malformation_syndrome {source="Orphanet:280586"} synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT CLINGEN_PREFERRED [OMIM:614078] synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586] xref: DOID:0112224 {source="MONDO:equivalentTo"} +xref: GARD:11009 {source="Orphanet:280586"} xref: OMIM:614078 {source="Orphanet:280586/e", source="MONDO:equivalentTo", source="Orphanet:280586"} xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"} xref: UMLS:C3279757 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614078"} @@ -270656,9 +278039,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013562 name: aspergillosis, susceptibility to +subset: gard_rare {source="GARD:15752"} subset: predisposition synonym: "aspergillosis, susceptibility to" EXACT [OMIM:614079] synonym: "susceptibility to aspergillosis" RELATED [OMIM:614079] +xref: GARD:15752 {source="OMIM:614079"} xref: OMIM:614079 {source="MONDO:equivalentTo"} xref: Orphanet:1163 {source="OMIM:614079"} xref: UMLS:C3279774 {source="OMIM:614079", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -270671,6 +278056,7 @@ property_value: confidence "34.333333333333464" xsd:double id: MONDO:0013563 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:12781"} subset: ordo_malformation_syndrome {source="Orphanet:280633"} synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633] synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080] @@ -270685,6 +278071,7 @@ synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual di synonym: "PIGN-CDG" EXACT [Orphanet:280633] synonym: "PIGN-related inherited GPI deficiency" NARROW [https://clinicalgenome.org/affiliation/40006/] xref: DOID:0080138 {source="MONDO:equivalentTo"} +xref: GARD:12781 {source="Orphanet:280633"} xref: ICD10CM:Q87.8 {source="Orphanet:280633/attributed", source="Orphanet:280633/ntbt", source="Orphanet:280633"} xref: NCIT:C176896 {source="MONDO:equivalentTo"} xref: OMIM:614080 {source="Orphanet:280633/e", source="MONDO:equivalentTo", source="DOID:0080138", source="Orphanet:280633"} @@ -270722,6 +278109,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013565 name: Fanconi anemia complementation group G def: "Fanconi anemia caused by mutations of the FANCG gene." [NCIT:C125708] +subset: gard_rare {source="GARD:15753"} synonym: "FANCG" EXACT ABBREVIATION [DOID:0111086, MONDO:Lexical, OMIM:614082] synonym: "Fanconi anaemia complementation group type G" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group G" EXACT CLINGEN_PREFERRED [] @@ -270730,6 +278118,7 @@ synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical, OMIM: synonym: "Fanconi Anemia, complementation group type G" EXACT [MONDORULE:1, OMIM:614082] xref: DOID:0111086 {source="MONDO:equivalentTo"} xref: EFO:0009046 {source="MONDO:equivalentTo"} +xref: GARD:15753 {source="OMIM:614082"} xref: NCIT:C125708 {source="MONDO:equivalentTo"} xref: OMIM:614082 {source="MONDO:equivalentTo", source="DOID:0111086"} xref: UMLS:C1333532 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614082"} @@ -270742,6 +278131,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0013566 name: Fanconi anemia complementation group L def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15754"} synonym: "FANCL" EXACT ABBREVIATION [DOID:0111082, MONDO:Lexical, OMIM:614083] synonym: "FANCL Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -270754,6 +278144,7 @@ synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083] synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical, OMIM:614083] synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2, OMIM:614083] xref: DOID:0111082 {source="MONDO:equivalentTo"} +xref: GARD:15754 {source="OMIM:614083"} xref: OMIM:614083 {source="DOID:0111082", source="MONDO:equivalentTo"} xref: UMLS:C1427106 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614083"} xref: UMLS:C3469528 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -270767,6 +278158,7 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0013567 name: atrial septal defect 3 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15755"} synonym: "ASD3" EXACT ABBREVIATION [DOID:0110108, MONDO:Lexical, OMIM:614089] synonym: "atrial heart septal defect caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 3" EXACT [DOID:0110108, MONDORULE:1] @@ -270774,6 +278166,7 @@ synonym: "atrial septal defect 3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:61408 synonym: "atrial septal defect type 3" EXACT [MONDORULE:1, OMIM:614089] synonym: "MYH6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110108 {source="MONDO:equivalentTo"} +xref: GARD:15755 {source="OMIM:614089"} xref: ICD10CM:Q21.1 {source="DOID:0110108"} xref: MESH:C563540 {source="MONDO:equivalentTo"} xref: OMIM:614089 {source="DOID:0110108", source="MONDO:equivalentTo"} @@ -270790,6 +278183,7 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0013568 name: sick sinus syndrome 3, susceptibility to def: "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18285"} subset: predisposition synonym: "familial sick sinus syndrome caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "MYH6 familial sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -270797,6 +278191,7 @@ synonym: "sick sinus syndrome 3" EXACT [OMIM:614090, OMIM:genemap2] synonym: "sick sinus syndrome 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:614090] synonym: "SSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614090] synonym: "susceptibility to sick sinus syndrome 3" RELATED [OMIM:614090] +xref: GARD:18285 {source="OMIM:614090"} xref: OMIM:614090 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="OMIM:614090"} xref: UMLS:C3279791 {source="OMIM:614090", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -270810,6 +278205,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013569 name: short-rib thoracic dysplasia 7 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." [DOID:0110090, PMID:17935248, PMID:21473986] +subset: gard_rare {source="GARD:15756", source="GARD:17919"} subset: ordo_malformation_syndrome synonym: "short rib-polydactyly syndrom type V" EXACT [DOID:0110090] synonym: "short rib-polydactyly syndrome type 5" EXACT [Orphanet:498497] @@ -270818,6 +278214,8 @@ synonym: "short-rib thoracic dysplasia 7 with or without polydactyly" EXACT [MON synonym: "SRPS5" EXACT ABBREVIATION [DOID:0110090] synonym: "SRTD7" EXACT ABBREVIATION [DOID:0110090, MONDO:Lexical, OMIM:614091] xref: DOID:0110090 {source="MONDO:equivalentTo"} +xref: GARD:15756 {source="OMIM:614091"} +xref: GARD:17919 {source="Orphanet:498497"} xref: ICD10CM:Q77.2 {source="DOID:0110090"} xref: OMIM:614091 {source="Orphanet:498497", source="DOID:0110090", source="MONDO:equivalentTo"} xref: Orphanet:498497 {source="MONDO:equivalentTo"} @@ -270835,6 +278233,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013570 name: combined oxidative phosphorylation defect type 8 def: "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." [Orphanet:319504] +subset: gard_rare {source="GARD:17452"} subset: ordo_disease {source="Orphanet:319504"} synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096] @@ -270843,6 +278242,7 @@ synonym: "combined oxidative phosphorylation deficiency caused by mutation in AA synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096] synonym: "COXPD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614096, Orphanet:319504] xref: DOID:0111479 {source="MONDO:equivalentTo"} +xref: GARD:17452 {source="Orphanet:319504"} xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="Orphanet:319504/e"} xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"} xref: SCTID:733600007 {source="MONDO:equivalentTo"} @@ -270859,6 +278259,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013571 name: acatalasia def: "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." [Orphanet:926] +subset: gard_rare {source="GARD:363"} subset: ordo_disease {source="Orphanet:926"} synonym: "acatalasemia" EXACT [OMIM:614097] synonym: "acatalasia" EXACT CLINGEN_PREFERRED [OMIM:614097] @@ -270866,6 +278267,7 @@ synonym: "catalase deficiency" EXACT [OMIM:614097, Orphanet:926] synonym: "deficiency of catalase" EXACT [DOID:2582] xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"} xref: EFO:0004144 {source="MONDO:equivalentTo"} +xref: GARD:363 {source="Orphanet:926"} xref: HGNC:1516 {source="EFO:0004144"} xref: ICD10CM:E80.3 {source="Orphanet:926/specific", source="Orphanet:926", source="Orphanet:926/e"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -270888,12 +278290,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013572 name: Keppen-Lubinsky syndrome +subset: gard_rare {source="GARD:17716"} subset: ordo_malformation_syndrome {source="Orphanet:435628"} synonym: "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT OMO:0003005 [] synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628] synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098] synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098] synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614098] +xref: GARD:17716 {source="Orphanet:435628"} xref: ICD10CM:E88.1 {source="Orphanet:435628", source="Orphanet:435628/attributed", source="Orphanet:435628/ntbt"} xref: OMIM:614098 {source="MONDO:equivalentTo", source="Orphanet:435628", source="Orphanet:435628/e"} xref: Orphanet:435628 {source="MONDO:equivalentTo"} @@ -270906,6 +278310,7 @@ property_value: confidence "8.166666666666666" xsd:double id: MONDO:0013573 name: cranioectodermal dysplasia 3 def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15757"} synonym: "CED3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614099] synonym: "CRANIOECTODERMAL dysplasia 3" RELATED [OMIM:614099] synonym: "cranioectodermal dysplasia 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614099] @@ -270913,6 +278318,7 @@ synonym: "cranioectodermal dysplasia caused by mutation in IFT43" EXACT [MONDO:d synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1, OMIM:614099] synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080805 {source="MONDO:equivalentTo"} +xref: GARD:15757 {source="OMIM:614099"} xref: OMIM:614099 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:614099"} xref: UMLS:C3279807 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614099"} @@ -270926,9 +278332,11 @@ property_value: confidence "2.47142857142857" xsd:double [Term] id: MONDO:0013574 name: cutis laxa - Marfanoid syndrome +subset: gard_rare {source="GARD:17069"} subset: ordo_malformation_syndrome {source="Orphanet:171719"} synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100] synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100] +xref: GARD:17069 {source="Orphanet:171719"} xref: MESH:C563639 {source="MONDO:equivalentTo"} xref: OMIM:614100 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e"} xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"} @@ -270951,6 +278359,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013576 name: recurrent infections associated with rare immunoglobulin isotypes deficiency def: "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." [Orphanet:183675] +subset: gard_rare {source="GARD:17086"} subset: ordo_disease {source="Orphanet:183675"} synonym: "IgG subclass deficiency with IgA subclass deficiency" EXACT [Orphanet:183675] synonym: "IGKCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614102] @@ -270961,6 +278370,7 @@ synonym: "kappa light chain deficiency" EXACT [OMIM:614102, OMIM:genemap2] synonym: "kappa-chain deficiency" EXACT [Orphanet:183675] synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT CLINGEN_PREFERRED [] synonym: "selective IgG subclass deficiency" RELATED [Orphanet:183675] +xref: GARD:17086 {source="Orphanet:183675"} xref: MESH:C564131 {source="MONDO:equivalentTo"} xref: OMIM:614102 {source="Orphanet:183675/e", source="MONDO:equivalentTo", source="Orphanet:183675"} xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"} @@ -271000,6 +278410,7 @@ property_value: IAO:0000589 "Lipedema (disease)" xsd:string id: MONDO:0013578 name: DYRK1A-related intellectual disability syndrome def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." [DOID:0070037] +subset: gard_rare {source="GARD:13527"} subset: ordo_malformation_syndrome {source="Orphanet:464306"} synonym: "autosomal dominant intellectual disability 7" EXACT [DOID:0070037] synonym: "autosomal dominant mental retardation 7" EXACT DEPRECATED [DOID:0070037] @@ -271010,6 +278421,7 @@ synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:614104] synonym: "MRD7" EXACT ABBREVIATION [DOID:0070037, MONDO:Lexical, OMIM:614104] xref: DOID:0070037 {source="MONDO:equivalentTo"} +xref: GARD:13527 {source="Orphanet:464306"} xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="Orphanet:464306/e"} xref: Orphanet:464306 {source="MONDO:equivalentTo"} xref: UMLS:C3279839 {source="OMIM:614104", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -271025,6 +278437,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013579 name: methylmalonate semialdehyde dehydrogenase deficiency +subset: gard_rare {source="GARD:17322"} subset: ordo_disease {source="Orphanet:289307"} synonym: "developmental delay due to ALDH6A1 deficiency" EXACT [Orphanet:289307] synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] @@ -271032,6 +278445,7 @@ synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307] synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614105] synonym: "MMSDH deficiency" RELATED [OMIM:614105] synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105] +xref: GARD:17322 {source="Orphanet:289307"} xref: ICD10CM:E71.1 {source="Orphanet:289307", source="Orphanet:289307/attributed", source="Orphanet:289307/ntbt"} xref: MESH:C566402 {source="MONDO:equivalentTo"} xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="Orphanet:289307/e"} @@ -271048,11 +278462,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013580 name: pyruvate dehydrogenase E1-beta deficiency def: "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." [Orphanet:255138] +subset: gard_rare {source="GARD:17236"} subset: ordo_clinical_subtype {source="Orphanet:255138"} synonym: "PDHBD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614111, Orphanet:255138] synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138] synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [OMIM:614111] synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111] +xref: GARD:17236 {source="Orphanet:255138"} xref: ICD10CM:E74.4 {source="Orphanet:255138", source="Orphanet:255138/attributed", source="Orphanet:255138/ntbt"} xref: MESH:C566729 {source="MONDO:equivalentTo"} xref: OMIM:614111 {source="MONDO:equivalentTo", source="Orphanet:255138", source="Orphanet:255138/e"} @@ -271068,6 +278484,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013581 name: intellectual disability, autosomal dominant 2 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16458"} synonym: "autosomal dominant intellectual disability 2" EXACT [DOID:0070032] synonym: "autosomal dominant mental retardation 2" EXACT DEPRECATED [DOID:0070032] synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [DOID:0070032] @@ -271079,6 +278496,7 @@ synonym: "mental retardation, autosomal dominant 2" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614113] synonym: "MRD2" EXACT ABBREVIATION [DOID:0070032, MONDO:Lexical, OMIM:614113] xref: DOID:0070032 {source="MONDO:equivalentTo"} +xref: GARD:16458 {source="OMIM:614113"} xref: OMIM:614113 {source="DOID:0070032", source="MONDO:equivalentTo"} xref: UMLS:C3279842 {source="OMIM:614113", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614113"} ! intellectual disability, autosomal dominant @@ -271092,6 +278510,7 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0013582 name: mosaic variegated aneuploidy syndrome 2 def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15758"} synonym: "CEP57 mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MOSAIC variegated aneuploidy syndrome 2" RELATED [OMIM:614114] synonym: "mosaic variegated aneuploidy syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614114] @@ -271100,6 +278519,7 @@ synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1, OMIM synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [DOID:0080142, MONDORULE:1] synonym: "MVA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614114] xref: DOID:0080142 {source="MONDO:equivalentTo"} +xref: GARD:15758 {source="OMIM:614114"} xref: NCIT:C168989 {source="MONDO:equivalentTo"} xref: OMIM:614114 {source="DOID:0080142", source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="OMIM:614114"} @@ -271115,11 +278535,13 @@ property_value: confidence "3.500000000000001" xsd:double [Term] id: MONDO:0013583 name: occipital pachygyria and polymicrogyria +subset: gard_rare {source="GARD:17299"} subset: ordo_malformation_syndrome {source="Orphanet:280640"} synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115] synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640] synonym: "occipital MCD" EXACT [Orphanet:280640] synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614115] +xref: GARD:17299 {source="Orphanet:280640"} xref: ICD10CM:Q04.3 {source="Orphanet:280640/attributed", source="Orphanet:280640/ntbt", source="Orphanet:280640"} xref: OMIM:614115 {source="Orphanet:280640/e", source="MONDO:equivalentTo", source="Orphanet:280640"} xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"} @@ -271132,6 +278554,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013584 name: hereditary sensory neuropathy-deafness-dementia syndrome def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." [DOID:0070158] +subset: gard_rare {source="GARD:11927"} subset: ordo_disease {source="Orphanet:456318"} synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" RELATED [GARD:0011927] synonym: "hereditary sensory and autonomic neuropathy type 1E" RELATED [GARD:0011927] @@ -271147,6 +278570,7 @@ synonym: "neuropathy, hereditary sensory, type 1E" RELATED [OMIM:614116] synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical, OMIM:614116] synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [OMIM:614116] xref: DOID:0070158 {source="MONDO:equivalentTo"} +xref: GARD:11927 {source="Orphanet:456318"} xref: ICD10CM:G60.8 {source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/attributed", source="Orphanet:456318/ntbt"} xref: MESH:C580162 {source="MONDO:equivalentTo"} xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/e"} @@ -271165,12 +278589,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013585 name: hydrolethalus syndrome 2 def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15759"} synonym: "HLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern] synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120] synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111356 {source="MONDO:equivalentTo"} +xref: GARD:15759 {source="OMIM:614120"} xref: OMIM:614120 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="OMIM:614120"} xref: UMLS:C3279899 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614120"} @@ -271200,7 +278626,7 @@ is_obsolete: true id: MONDO:0013587 name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." [GARD:0003161] -subset: gard_rare +subset: gard_rare {source="GARD:3161"} subset: ordo_clinical_subtype {source="Orphanet:284435"} synonym: "glycogenosis due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435] synonym: "GSD due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435] @@ -271210,6 +278636,7 @@ synonym: "lactate dehydrogenase-B deficiency" EXACT [OMIM:614128, OMIM:genemap2] synonym: "LDH deficiency B" RELATED [GARD:0003161] synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435] synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical, OMIM:614128] +xref: GARD:3161 {source="Orphanet:284435"} xref: ICD10CM:E74.0 {source="Orphanet:284435/attributed", source="Orphanet:284435/ntbt", source="Orphanet:284435"} xref: MESH:C563641 {source="MONDO:equivalentTo"} xref: OMIM:614128 {source="Orphanet:284435/e", source="MONDO:equivalentTo", source="GARD:0003161", source="Orphanet:284435"} @@ -271231,6 +278658,7 @@ id: MONDO:0013588 name: Perrault syndrome 3 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." [MONDO:patterns/disease_series_by_gene] comment: based on OMIM phenotypic series 220290. {source="OMIM:614129"} +subset: gard_rare {source="GARD:15760"} synonym: "CLPP Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deafness, autosomal recessive 81" RELATED [OMIM:614129] synonym: "deafness, autosomal recessive 81, formerly" RELATED [OMIM:614129] @@ -271238,6 +278666,7 @@ synonym: "Perrault syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:6141 synonym: "Perrault syndrome caused by mutation in CLPP" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1, OMIM:614129] synonym: "PRLTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614129] +xref: GARD:15760 {source="OMIM:614129"} xref: OMIM:614129 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:614129"} xref: UMLS:C2681413 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -271253,6 +278682,7 @@ property_value: confidence "1.4822000130642108" xsd:double id: MONDO:0013589 name: focal segmental glomerulosclerosis 6 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15761"} synonym: "focal segmental glomerulosclerosis 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614131] synonym: "focal segmental glomerulosclerosis caused by mutation in MYO1E" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 6" EXACT [DOID:0111131, MONDORULE:1, OMIM:614131] @@ -271260,6 +278690,7 @@ synonym: "FSGS6" EXACT ABBREVIATION [DOID:0111131, MONDO:Lexical, OMIM:614131] synonym: "glomerulosclerosis, focal segmental, 6" RELATED [OMIM:614131] synonym: "MYO1E focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111131 {source="MONDO:equivalentTo"} +xref: GARD:15761 {source="OMIM:614131"} xref: ICD10CM:N04.1 {source="DOID:0111131"} xref: OMIM:614131 {source="MONDO:equivalentTo", source="DOID:0111131"} xref: Orphanet:656 {source="MONDO:relatedTo", source="OMIM:614131"} @@ -271274,10 +278705,12 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0013590 name: Stickler syndrome, type 4 def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18358"} synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A1" EXACT [MONDO:design_pattern] synonym: "COL9A1 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical, OMIM:614134] synonym: "STL4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614134] +xref: GARD:18358 {source="OMIM:614134"} xref: OMIM:614134 {source="MONDO:equivalentTo"} xref: Orphanet:250984 {source="OMIM:614134"} xref: Orphanet:828 {source="OMIM:614134"} @@ -271292,7 +278725,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013591 name: epiphyseal dysplasia, multiple, 6 def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0013376"} +subset: gard_rare {source="GARD:13376"} synonym: "COL9A1 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "EDM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614135] synonym: "epiphyseal dysplasia, multiple, 6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614135] @@ -271300,6 +278733,7 @@ synonym: "epiphyseal dysplasia, multiple, type 6" EXACT [MONDORULE:1, OMIM:61413 synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1" EXACT [] synonym: "multiple epiphyseal dysplasia 6" RELATED [GARD:0013376] xref: DOID:0070301 {source="MONDO:equivalentTo"} +xref: GARD:13376 {source="OMIM:614135"} xref: OMIM:614135 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:614135"} xref: UMLS:C2675767 {source="OMIM:614135", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -271315,6 +278749,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13376/multip [Term] id: MONDO:0013592 name: nonsyndromic congenital nail disorder 9 +subset: gard_rare {source="GARD:15762"} synonym: "anonychia-onycholysis, isolated" RELATED [OMIM:614149] synonym: "nail disorder, nonsyndromic congenital, 9" RELATED [MONDO:Lexical, OMIM:614149] synonym: "nail dysplasia" RELATED [OMIM:614149] @@ -271322,6 +278757,7 @@ synonym: "NDNC9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614149] synonym: "nonsyndromic congenital nail disorder type 9" EXACT [DOID:0080087, MONDORULE:1] synonym: "onychodystrophy" RELATED [OMIM:614149] xref: DOID:0080087 {source="MONDO:equivalentTo"} +xref: GARD:15762 {source="OMIM:614149"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614149 {source="DOID:0080087", source="MONDO:equivalentTo"} xref: Orphanet:79143 {source="OMIM:614149"} @@ -271340,6 +278776,7 @@ id: MONDO:0013593 name: autosomal dominant nonsyndromic hearing loss 64 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:18134"} synonym: "autosomal dominant deafness 64" NARROW [DOID:0110585] synonym: "autosomal dominant nonsyndromic deafness 64" NARROW [OMIM:614152] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" NARROW [MONDO:design_pattern] @@ -271349,6 +278786,7 @@ synonym: "deafness, autosomal dominant type 64" NARROW [MONDORULE:2, OMIM:614152 synonym: "DFNA64" NARROW ABBREVIATION [DOID:0110585, MONDO:Lexical, OMIM:614152] synonym: "DIABLO autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110585 {source="MONDO:equivalentTo"} +xref: GARD:18134 {source="OMIM:614152"} xref: ICD10CM:H90.3 {source="DOID:0110585"} xref: OMIM:614152 {source="MONDO:equivalentTo", source="DOID:0110585"} xref: UMLS:C3279948 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614152"} @@ -271363,12 +278801,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013594 name: spinocerebellar ataxia type 36 def: "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." [Orphanet:276198] +subset: gard_rare {source="GARD:12367"} subset: ordo_disease {source="Orphanet:276198"} synonym: "Asidan" EXACT [Orphanet:276198] synonym: "SCA36" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614153, Orphanet:276198] synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153] synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153] xref: DOID:0050983 {source="MONDO:equivalentTo"} +xref: GARD:12367 {source="Orphanet:276198"} xref: ICD10CM:G11.8 {source="Orphanet:276198", source="Orphanet:276198/attributed", source="Orphanet:276198/ntbt"} xref: NCIT:C148316 {source="MONDO:equivalentTo"} xref: OMIM:614153 {source="Orphanet:276198", source="DOID:0050983", source="MONDO:equivalentTo", source="Orphanet:276198/e"} @@ -271383,10 +278823,12 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0013595 name: hyperbiliverdinemia def: "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." [Orphanet:276405] +subset: gard_rare {source="GARD:17279"} subset: ordo_disease {source="Orphanet:276405"} synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405] synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614156] synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156] +xref: GARD:17279 {source="Orphanet:276405"} xref: ICD10CM:K76.8 {source="Orphanet:276405/attributed", source="Orphanet:276405/ntbt", source="Orphanet:276405"} xref: OMIM:614156 {source="Orphanet:276405/e", source="MONDO:equivalentTo", source="Orphanet:276405"} xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"} @@ -271431,7 +278873,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013598 name: myostatin-related muscle hypertrophy def: "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." [https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy] -subset: gard_rare {source="GARD:0010238"} subset: ordo_disease {source="Orphanet:275534"} synonym: "MSLHP" EXACT ABBREVIATION [DOID:0111072, MONDO:Lexical, OMIM:614160] synonym: "muscle hypertrophy" RELATED [MONDO:Lexical, OMIM:614160] @@ -271455,6 +278896,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10238/myosta id: MONDO:0013599 name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome def: "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." [Orphanet:391487] +subset: gard_rare {source="GARD:12314"} subset: ordo_disease {source="Orphanet:391487"} subset: predisposition synonym: "CANDF7" RELATED ABBREVIATION [GARD:0012314] @@ -271468,6 +278910,7 @@ synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162] synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [OMIM:614162, OMIM:genemap2] synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162] xref: DOID:0111946 {source="MONDO:equivalentTo"} +xref: GARD:12314 {source="Orphanet:391487"} xref: ICD10CM:K63.9 {source="Orphanet:391487/attributed", source="Orphanet:391487/ntbt", source="Orphanet:391487"} xref: OMIM:614162 {source="Orphanet:391487/e", source="MONDO:equivalentTo", source="Orphanet:391487"} xref: Orphanet:391487 {source="MONDO:equivalentTo"} @@ -271527,11 +278970,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013602 name: paragangliomas 5 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15763"} synonym: "paraganglioma caused by mutation in SDHA" EXACT [MONDO:design_pattern] synonym: "paragangliomas 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614165] synonym: "paragangliomas type 5" EXACT [MONDORULE:1, OMIM:614165] synonym: "PGL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614165] synonym: "SDHA paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15763 {source="OMIM:614165"} xref: OMIM:614165 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:614165"} xref: UMLS:C3279992 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614165"} @@ -271573,12 +279018,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013605 name: brittle cornea syndrome 2 def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15764"} synonym: "BCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614170] synonym: "brittle cornea syndrome 2" EXACT [MONDO:Lexical, OMIM:614170] synonym: "brittle cornea syndrome caused by mutation in PRDM5" EXACT [MONDO:design_pattern] synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1, OMIM:614170] synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080729 {source="MONDO:equivalentTo"} +xref: GARD:15764 {source="OMIM:614170"} xref: OMIM:614170 {source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="OMIM:614170"} xref: UMLS:C3280011 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614170"} @@ -271593,6 +279040,7 @@ property_value: confidence "2.31578947368421" xsd:double id: MONDO:0013606 name: Hermansky-Pudlak syndrome 9 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18338"} subset: ordo_clinical_subtype {source="Orphanet:280663"} synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 9" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614171] @@ -271600,6 +279048,7 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO: synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171] synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171, Orphanet:280663] xref: DOID:0060547 {source="MONDO:equivalentTo"} +xref: GARD:18338 {source="OMIM:614171"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:280663", source="Orphanet:280663/attributed", source="Orphanet:280663/ntbt"} xref: OMIM:614171 {source="Orphanet:280663/e", source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663"} xref: Orphanet:280663 {source="MONDO:equivalentObsolete", source="OMIM:614171"} @@ -271615,6 +279064,7 @@ property_value: confidence "6.142857142857142" xsd:double [Term] id: MONDO:0013607 name: monocytopenia with susceptibility to infections +subset: gard_rare {source="GARD:10934"} subset: ordo_disease {source="Orphanet:228423"} subset: predisposition synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [Orphanet:228423] @@ -271632,6 +279082,7 @@ synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172 synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172] synonym: "MonoMAC" EXACT [Orphanet:228423] xref: DOID:0111947 {source="MONDO:equivalentTo"} +xref: GARD:10934 {source="Orphanet:228423"} xref: ICD10CM:D72.8 {source="Orphanet:228423/attributed", source="Orphanet:228423/ntbt", source="Orphanet:228423"} xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", source="Orphanet:228423"} xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"} @@ -271644,12 +279095,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013608 name: Joubert syndrome 13 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15765"} synonym: "JBTS13" EXACT ABBREVIATION [DOID:0110982, MONDO:Lexical, OMIM:614173] synonym: "Joubert syndrome 13" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614173] synonym: "Joubert syndrome caused by mutation in TCTN1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 13" EXACT [DOID:0110982, MONDORULE:2, OMIM:614173] synonym: "TCTN1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110982 {source="MONDO:equivalentTo"} +xref: GARD:15765 {source="OMIM:614173"} xref: OMIM:614173 {source="MONDO:equivalentTo", source="DOID:0110982"} xref: Orphanet:475 {source="OMIM:614173"} xref: UMLS:C3280031 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614173"} @@ -271686,12 +279139,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013610 name: retinitis pigmentosa 61 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15766"} synonym: "CLRN1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 61" EXACT [MONDO:Lexical, OMIM:614180] synonym: "retinitis pigmentosa caused by mutation in CLRN1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 61" EXACT [DOID:0110373, MONDORULE:2, OMIM:614180] synonym: "RP61" EXACT ABBREVIATION [DOID:0110373, MONDO:Lexical, OMIM:614180] xref: DOID:0110373 {source="MONDO:equivalentTo"} +xref: GARD:15766 {source="OMIM:614180"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110373"} xref: OMIM:614180 {source="MONDO:equivalentTo", source="DOID:0110373"} xref: UMLS:C3280041 {source="MONDO:equivalentTo", source="OMIM:614180", source="MONDO:ncbi_mim2gene_medline"} @@ -271702,12 +279157,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013611 name: retinitis pigmentosa 62 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15767"} synonym: "MAK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 62" EXACT [MONDO:Lexical, OMIM:614181] synonym: "retinitis pigmentosa caused by mutation in MAK" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 62" EXACT [DOID:0110380, MONDORULE:2, OMIM:614181] synonym: "RP62" EXACT ABBREVIATION [DOID:0110380, MONDO:Lexical, OMIM:614181] xref: DOID:0110380 {source="MONDO:equivalentTo"} +xref: GARD:15767 {source="OMIM:614181"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110380"} xref: OMIM:614181 {source="MONDO:equivalentTo", source="DOID:0110380"} xref: UMLS:C3280042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614181"} @@ -271720,6 +279177,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013612 name: geleophysic dysplasia 2 def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15768"} synonym: "FBN1 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GELEOPHYSIC dysplasia 2" RELATED [OMIM:614185] synonym: "Geleophysic dysplasia 2" EXACT [MONDO:Lexical, OMIM:614185] @@ -271727,6 +279185,7 @@ synonym: "geleophysic dysplasia caused by mutation in FBN1" EXACT [MONDO:design_ synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1, OMIM:614185] synonym: "GPHYSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614185] xref: DOID:0111726 {source="MONDO:equivalentTo"} +xref: GARD:15768 {source="OMIM:614185"} xref: OMIM:614185 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:614185"} xref: UMLS:C3280054 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614185"} @@ -271742,13 +279201,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013613 name: Leber congenital amaurosis 16 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010885"} +subset: gard_rare {source="GARD:10885"} synonym: "KCNJ13 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA16" EXACT ABBREVIATION [DOID:0110118, MONDO:Lexical, OMIM:614186] synonym: "Leber congenital amaurosis 16" EXACT [MONDO:Lexical, OMIM:614186] synonym: "Leber congenital amaurosis caused by mutation in KCNJ13" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 16" EXACT [DOID:0110118, MONDORULE:2, OMIM:614186] xref: DOID:0110118 {source="MONDO:equivalentTo"} +xref: GARD:10885 {source="OMIM:614186"} xref: ICD10CM:H35.5 {source="DOID:0110118", source="MONDO:relatedTo"} xref: OMIM:614186 {source="DOID:0110118", source="MONDO:equivalentTo"} xref: Orphanet:65 {source="OMIM:614186"} @@ -271762,10 +279222,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10885/leber- [Term] id: MONDO:0013614 name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome +subset: gard_rare {source="GARD:17351"} subset: ordo_malformation_syndrome {source="Orphanet:293958"} synonym: "HPPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614187, Orphanet:293958] synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187] synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958] +xref: GARD:17351 {source="Orphanet:293958"} xref: OMIM:614187 {source="Orphanet:293958", source="MONDO:equivalentTo", source="Orphanet:293958/e"} xref: Orphanet:293958 {source="MONDO:equivalentTo", source="OMIM:614187"} xref: UMLS:C3280065 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614187"} @@ -271775,11 +279237,13 @@ property_value: confidence "6.5" xsd:double [Term] id: MONDO:0013615 name: craniosynostosis and dental anomalies +subset: gard_rare {source="GARD:17309"} subset: ordo_malformation_syndrome {source="Orphanet:284149"} synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:614188] synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149] synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614188] synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149] +xref: GARD:17309 {source="Orphanet:284149"} xref: ICD10CM:Q87.0 {source="Orphanet:284149/attributed", source="Orphanet:284149/ntbt", source="Orphanet:284149"} xref: OMIM:614188 {source="Orphanet:284149/e", source="MONDO:equivalentTo", source="Orphanet:284149"} xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"} @@ -271794,12 +279258,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013616 name: pigmented nodular adrenocortical disease, primary, 3 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15769"} synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [OMIM:614190] synonym: "PDE8B primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pigmented nodular adrenocortical disease, primary, 3" EXACT [MONDO:Lexical, OMIM:614190] synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1, OMIM:614190] synonym: "PPNAD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614190] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" EXACT [MONDO:design_pattern] +xref: GARD:15769 {source="OMIM:614190"} xref: OMIM:614190 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:614190"} xref: UMLS:C3280094 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614190"} @@ -271833,11 +279299,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013619 name: nephrotic syndrome, type 6 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15770"} synonym: "nephrotic syndrome caused by mutation in PTPRO" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 6" EXACT [MONDO:Lexical, OMIM:614196] synonym: "NPHS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614196] synonym: "PTPRO nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080384 {source="MONDO:equivalentTo"} +xref: GARD:15770 {source="OMIM:614196"} xref: OMIM:614196 {source="MONDO:equivalentTo"} xref: UMLS:C3280100 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614196"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:614196"} ! familial nephrotic syndrome @@ -271852,6 +279320,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0013620 name: congenital myasthenic syndrome 16 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15771"} synonym: "CMS16" EXACT ABBREVIATION [DOID:0110682, MONDO:Lexical, OMIM:614198] synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [DOID:0110682] synonym: "congenital myasthenic syndrome caused by mutation in SCN4A" EXACT [MONDO:design_pattern] @@ -271861,6 +279330,7 @@ synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [OM synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2, OMIM:614198] synonym: "SCN4A congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110682 {source="MONDO:equivalentTo"} +xref: GARD:15771 {source="OMIM:614198"} xref: OMIM:614198 {source="MONDO:equivalentTo", source="DOID:0110682"} xref: Orphanet:590 {source="OMIM:614198"} xref: Orphanet:98913 {source="OMIM:614198"} @@ -271899,6 +279369,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013622 name: platelet-type bleeding disorder 9 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16868"} subset: ordo_etiological_subtype {source="Orphanet:98886"} synonym: "BDPLT9" EXACT ABBREVIATION [DOID:0111045, MONDO:Lexical, OMIM:614200] synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [Orphanet:98886] @@ -271909,6 +279380,7 @@ synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern] synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111045 {source="MONDO:equivalentTo"} +xref: GARD:16868 {source="Orphanet:98886"} xref: ICD10CM:D69.8 {source="Orphanet:98886", source="Orphanet:98886/attributed", source="Orphanet:98886/ntbt", source="DOID:0111045"} xref: MESH:C566000 {source="MONDO:equivalentTo"} xref: OMIM:614200 {source="Orphanet:98886", source="MONDO:equivalentTo", source="Orphanet:98886/e", source="DOID:0111045"} @@ -271925,6 +279397,7 @@ property_value: confidence "0.3333333333333335" xsd:double id: MONDO:0013623 name: platelet-type bleeding disorder 11 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13293"} subset: ordo_etiological_subtype {source="Orphanet:98885"} synonym: "BDPLT11" EXACT ABBREVIATION [DOID:0111057, MONDO:Lexical, OMIM:614201] synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [Orphanet:98885] @@ -271938,6 +279411,7 @@ synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" synonym: "platelet-type bleeding disorder 11" EXACT CLINGEN_PREFERRED [] synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293] xref: DOID:0111057 {source="MONDO:equivalentTo"} +xref: GARD:13293 {source="Orphanet:98885"} xref: ICD10CM:D69.8 {source="Orphanet:98885/attributed", source="Orphanet:98885/ntbt", source="Orphanet:98885", source="DOID:0111057"} xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="Orphanet:98885/e", source="DOID:0111057"} xref: Orphanet:73271 {source="OMIM:614201"} @@ -271954,6 +279428,7 @@ property_value: confidence "0.3333333333333335" xsd:double id: MONDO:0013624 name: Rafiq syndrome def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22550"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1" EXACT [MONDO:design_pattern] synonym: "CDG2U" EXACT [OMIM:614202] synonym: "intellectual disability, autosomal recessive 15" EXACT [OMIM:614202] @@ -271963,6 +279438,7 @@ synonym: "mental retardation, autosomal recessive type 15" EXACT DEPRECATED [MON synonym: "MRT15" RELATED DEPRECATED [MONDO:Lexical, OMIM:614202] synonym: "RAFQS" EXACT ABBREVIATION [OMIM:614202] xref: DOID:0081097 {source="MONDO:equivalentTo"} +xref: GARD:22550 {source="OMIM:614202"} xref: NCIT:C84392 {source="DOID:1059"} xref: OMIM:614202 {source="MONDO:equivalentTo"} xref: SCTID:154978008 {source="DOID:1059"} @@ -271977,6 +279453,7 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013625 name: Parkinson disease 17 def: "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18478"} synonym: "autosomal dominant Parkinson disease 17" EXACT [DOID:0060897] synonym: "PARK17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614203] synonym: "Parkinson disease 17" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614203] @@ -271985,6 +279462,7 @@ synonym: "Parkinson disease type 17" EXACT [DOID:0060897, MONDORULE:2, OMIM:6142 synonym: "Parkinson's disease 17" RELATED [DOID:0060897] synonym: "VPS35 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060897 {source="MONDO:equivalentTo"} +xref: GARD:18478 {source="OMIM:614203"} xref: OMIM:614203 {source="DOID:0060897", source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:614203"} xref: UMLS:C3280133 {source="OMIM:614203", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -272000,6 +279478,7 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0013626 name: psoriasis 14, pustular def: "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12819", source="GARD:20052", source="GARD:17679"} subset: ordo_disease {source="Orphanet:404546", source="Orphanet:163931", source="Orphanet:247353"} synonym: "acrodermatitis continua of Hallopeau" EXACT [OMIM:614204] synonym: "acrodermatitis continua suppurativa of Hallopeau" EXACT [OMIM:614204] @@ -272020,6 +279499,9 @@ synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern] synonym: "PSORP" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] synonym: "PSORS14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614204] xref: DOID:0080474 {source="MONDO:equivalentTo"} +xref: GARD:12819 {source="Orphanet:247353"} +xref: GARD:17679 {source="Orphanet:404546"} +xref: GARD:20052 {source="Orphanet:163931"} xref: ICD10CM:L40.1 {source="Orphanet:247353/specific", source="Orphanet:404546", source="Orphanet:247353/e", source="Orphanet:404546/attributed", source="Orphanet:404546/ntbt", source="Orphanet:247353"} xref: ICD10CM:L40.2 {source="Orphanet:163931", source="Orphanet:163931/ntbt", source="Orphanet:163931/index"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -272050,6 +279532,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013627 name: 3M syndrome 3 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15772"} synonym: "3-M syndrome 3" EXACT [OMIM:614205, OMIM:genemap2] synonym: "3-M syndrome caused by mutation in CCDC8" EXACT [MONDO:design_pattern] synonym: "3M syndrome 3" EXACT CLINGEN_PREFERRED [OMIM:614205] @@ -272057,6 +279540,7 @@ synonym: "3M3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614205] synonym: "CCDC8 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "three M syndrome 3" EXACT [MONDO:Lexical, OMIM:614205] synonym: "three M syndrome type 3" EXACT [MONDORULE:1, OMIM:614205] +xref: GARD:15772 {source="OMIM:614205"} xref: OMIM:614205 {source="MONDO:equivalentTo"} xref: Orphanet:2616 {source="OMIM:614205"} xref: UMLS:C3280146 {source="OMIM:614205", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -272074,6 +279558,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013628 name: hyperphosphatasia with intellectual disability syndrome 3 def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18350"} synonym: "glycosylphosphatidylinositol biosynthesis defect 8" RELATED [OMIM:614207] synonym: "HPMRS3" RELATED DEPRECATED [MONDO:Lexical, OMIM:614207] synonym: "hyperphosphatasia with intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:614207] @@ -272086,6 +279571,7 @@ synonym: "intellectual disability, autosomal recessive 21" RELATED [OMIM:614207] synonym: "mental retardation, autosomal recessive 17" RELATED DEPRECATED [OMIM:614207] synonym: "mental retardation, autosomal recessive 21" RELATED DEPRECATED [OMIM:614207] synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18350 {source="OMIM:614207"} xref: OMIM:614207 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:614207"} xref: UMLS:C3280153 {source="MONDO:equivalentTo", source="OMIM:614207", source="MONDO:ncbi_mim2gene_medline"} @@ -272098,10 +279584,12 @@ property_value: confidence "2.281173262883367" xsd:double [Term] id: MONDO:0013629 name: intellectual disability, autosomal recessive 16 +subset: gard_rare {source="GARD:22551"} synonym: "intellectual disability, autosomal recessive 16" EXACT [MONDO:Lexical, OMIM:614208] synonym: "mental retardation, autosomal recessive 16" RELATED DEPRECATED [MONDO:Lexical, OMIM:614208] synonym: "MRT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614208] xref: DOID:0081189 {source="MONDO:equivalentTo"} +xref: GARD:22551 {source="OMIM:614208"} xref: OMIM:614208 {source="MONDO:equivalentTo"} xref: UMLS:C3280154 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614208"} is_a: MONDO:0019502 {source="DC-OMIM:614208", source="OMIM:614208"} ! autosomal recessive non-syndromic intellectual disability @@ -272111,11 +279599,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013630 name: Meckel syndrome, type 9 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15773"} synonym: "B9D1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "meckel syndrome 9" EXACT [OMIM:614209, OMIM:genemap2] synonym: "Meckel syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 9" EXACT [MONDO:Lexical, OMIM:614209] synonym: "MKS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614209] +xref: GARD:15773 {source="OMIM:614209"} xref: OMIM:614209 {source="MONDO:equivalentTo"} xref: Orphanet:564 {source="OMIM:614209"} xref: UMLS:C3280155 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614209"} @@ -272142,12 +279632,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013632 name: autosomal dominant nonsyndromic hearing loss 33 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." [DOID:0110562, PMID:19183916] +subset: gard_rare {source="GARD:18135"} synonym: "autosomal dominant deafness 33" NARROW [DOID:0110562] synonym: "autosomal dominant nonsyndromic deafness 33" NARROW [OMIM:614211] synonym: "autosomal dominant nonsyndromic deafness type 33" NARROW [DOID:0110562, MONDORULE:2] synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical, OMIM:614211, OMIM:genemap2] synonym: "DFNA33" NARROW ABBREVIATION [DOID:0110562, MONDO:Lexical, OMIM:614211] xref: DOID:0110562 {source="MONDO:equivalentTo"} +xref: GARD:18135 {source="OMIM:614211"} xref: ICD10CM:H90.3 {source="DOID:0110562"} xref: OMIM:614211 {source="MONDO:equivalentTo", source="DOID:0110562"} xref: Orphanet:90635 {source="OMIM:614211"} @@ -272160,6 +279652,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013633 name: encephalopathy, acute, infection-induced, susceptibility to, 4 def: "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18384"} subset: predisposition synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern] @@ -272167,6 +279660,7 @@ synonym: "encephalopathy, acute, infection-induced, 4, susceptibility to" EXACT synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212] synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212] synonym: "IIAE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614212] +xref: GARD:18384 {source="OMIM:614212"} xref: OMIM:614212 {source="MONDO:equivalentTo"} xref: Orphanet:263524 {source="OMIM:614212"} xref: UMLS:C3280160 {source="OMIM:614212", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -272185,6 +279679,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013634 name: neuropathy, hereditary sensory, type 2C def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15774"} synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A" EXACT [MONDO:design_pattern] synonym: "hereditary sensory neuropathy type 2C" RELATED [DOID:0070147] synonym: "hereditary sensory neuropathy type IIC" EXACT [DOID:0070147] @@ -272192,6 +279687,7 @@ synonym: "HSN2C" EXACT ABBREVIATION [DOID:0070147, MONDO:Lexical, OMIM:614213] synonym: "KIF1A hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical, OMIM:614213] xref: DOID:0070147 {source="MONDO:equivalentTo"} +xref: GARD:15774 {source="OMIM:614213"} xref: OMIM:614213 {source="MONDO:equivalentTo", source="DOID:0070147"} xref: Orphanet:970 {source="OMIM:614213"} xref: UMLS:C3280168 {source="OMIM:614213", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -272206,11 +279702,13 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0013635 name: Adams-Oliver syndrome 2 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15775"} synonym: "Adams-Oliver syndrome 2" EXACT [MONDO:Lexical, OMIM:614219] synonym: "Adams-Oliver syndrome caused by mutation in DOCK6" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1, OMIM:614219] synonym: "AOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614219] synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15775 {source="OMIM:614219"} xref: OMIM:614219 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:614219"} xref: UMLS:C3280182 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614219"} @@ -272225,9 +279723,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013636 name: primary biliary cholangitis 4 +subset: gard_rare {source="GARD:15776"} synonym: "biliary cirrhosis, primary, 4" RELATED [MONDO:Lexical, OMIM:614220] synonym: "PBC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614220] xref: DOID:0070361 {source="MONDO:equivalentTo"} +xref: GARD:15776 {source="OMIM:614220"} xref: OMIM:614220 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:614220"} xref: UMLS:C3280201 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614220"} @@ -272237,9 +279737,11 @@ property_value: confidence "3.0" xsd:double [Term] id: MONDO:0013637 name: primary biliary cholangitis 5 +subset: gard_rare {source="GARD:15777"} synonym: "biliary cirrhosis, primary, 5" RELATED [MONDO:Lexical, OMIM:614221] synonym: "PBC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614221] xref: DOID:0070362 {source="MONDO:equivalentTo"} +xref: GARD:15777 {source="OMIM:614221"} xref: OMIM:614221 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:614221"} xref: UMLS:C3280202 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614221"} @@ -272250,6 +279752,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0013638 name: Warburg micro syndrome 3 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15778"} synonym: "micro syndrome 3" EXACT [DOID:0110718, OMIM:614222] synonym: "RAB18 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM3" EXACT ABBREVIATION [DOID:0110718, MONDO:Lexical, OMIM:614222] @@ -272258,6 +279761,7 @@ synonym: "Warburg micro syndrome 3" EXACT [MONDO:Lexical, OMIM:614222] synonym: "Warburg micro syndrome caused by mutation in RAB18" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 3" EXACT [DOID:0110718, MONDORULE:1, OMIM:614222] xref: DOID:0110718 {source="MONDO:equivalentTo"} +xref: GARD:15778 {source="OMIM:614222"} xref: ICD10CM:Q87.0 {source="DOID:0110718"} xref: OMIM:614222 {source="MONDO:equivalentTo", source="DOID:0110718"} xref: Orphanet:2510 {source="OMIM:614222"} @@ -272272,10 +279776,12 @@ property_value: confidence "0.8609986602670641" xsd:double [Term] id: MONDO:0013639 name: narcolepsy 6, susceptibility to +subset: gard_rare {source="GARD:15779"} subset: predisposition synonym: "narcolepsy 6" RELATED [OMIM:614223, OMIM:genemap2] synonym: "narcolepsy 6, susceptibility to" EXACT [OMIM:614223] synonym: "NRCLP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614223] +xref: GARD:15779 {source="OMIM:614223"} xref: OMIM:614223 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:614223"} xref: UMLS:C3280204 {source="OMIM:614223", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -272287,11 +279793,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013640 name: familial retinal arterial macroaneurysm +subset: gard_rare {source="GARD:12779"} subset: ordo_malformation_syndrome {source="Orphanet:284247"} synonym: "Fram" EXACT [Orphanet:284247] synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224] synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247] synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224] +xref: GARD:12779 {source="Orphanet:284247"} xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="Orphanet:284247/e"} xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"} xref: SCTID:764452004 {source="MONDO:equivalentTo"} @@ -272311,6 +279819,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013641 name: Warburg micro syndrome 2 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15780"} synonym: "micro syndrome 2" EXACT [DOID:0110717, OMIM:614225] synonym: "RAB3GAP2 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM2" EXACT ABBREVIATION [DOID:0110717, MONDO:Lexical, OMIM:614225] @@ -272319,6 +279828,7 @@ synonym: "Warburg micro syndrome 2" EXACT [MONDO:Lexical, OMIM:614225] synonym: "Warburg micro syndrome caused by mutation in RAB3GAP2" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 2" EXACT [DOID:0110717, MONDORULE:1, OMIM:614225] xref: DOID:0110717 {source="MONDO:equivalentTo"} +xref: GARD:15780 {source="OMIM:614225"} xref: ICD10CM:Q87.0 {source="DOID:0110717"} xref: OMIM:614225 {source="MONDO:equivalentTo", source="DOID:0110717"} xref: Orphanet:2510 {source="OMIM:614225"} @@ -272363,6 +279873,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013644 name: Charcot-Marie-Tooth disease axonal type 2O def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12434"} subset: ordo_disease {source="Orphanet:284232"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] @@ -272376,6 +279887,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228] synonym: "CMT2O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614228, Orphanet:284232] synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110175 {source="MONDO:equivalentTo"} +xref: GARD:12434 {source="Orphanet:284232"} xref: ICD10CM:G60.0 {source="Orphanet:284232/attributed", source="Orphanet:284232/ntbt", source="Orphanet:284232", source="DOID:0110175"} xref: OMIM:614228 {source="Orphanet:284232", source="MONDO:equivalentTo", source="Orphanet:284232/e", source="DOID:0110175"} xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source="DOID:0110175"} @@ -272392,6 +279904,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013645 name: autosomal recessive spinocerebellar ataxia 11 def: "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17312"} subset: ordo_disease {source="Orphanet:284271"} synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271] synonym: "autosomal recessive spinocerebellar ataxia 11" EXACT CLINGEN_PREFERRED [] @@ -272402,6 +279915,7 @@ synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229] synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080063 {source="MONDO:equivalentTo"} +xref: GARD:17312 {source="Orphanet:284271"} xref: ICD10CM:G11.1 {source="Orphanet:284271", source="Orphanet:284271/attributed", source="Orphanet:284271/ntbt"} xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="Orphanet:284271/e"} xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"} @@ -272416,6 +279930,7 @@ property_value: confidence "12.4375" xsd:double id: MONDO:0013646 name: chromosome 8q21.11 deletion syndrome def: "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." [Orphanet:284160] +subset: gard_rare {source="GARD:17310"} subset: ordo_malformation_syndrome {source="Orphanet:284160"} synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425] synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230] @@ -272425,6 +279940,7 @@ synonym: "deletion 8q21.11" EXACT [Orphanet:284160] synonym: "monosomy 8q21.11" EXACT [Orphanet:284160] xref: DECIPHER:86 {source="MONDO:equivalentTo"} xref: DOID:0060425 {source="MONDO:equivalentTo"} +xref: GARD:17310 {source="Orphanet:284160"} xref: ICD10CM:Q93.5 {source="Orphanet:284160/attributed", source="Orphanet:284160/ntbt", source="DOID:0060425", source="Orphanet:284160"} xref: OMIM:614230 {source="Orphanet:284160/e", source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160"} xref: Orphanet:284160 {source="MONDO:equivalentTo", source="DOID:0060425", source="OMIM:614230"} @@ -272456,6 +279972,7 @@ replaced_by: MONDO:0031481 id: MONDO:0013648 name: familial progressive hyperpigmentation def: "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." [Orphanet:79146] +subset: gard_rare {source="GARD:18074", source="GARD:16706"} subset: ordo_disease {source="Orphanet:79146"} synonym: "Fph" RELATED [OMIM:614233] synonym: "FPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614233] @@ -272463,6 +279980,8 @@ synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OM synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146] synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146] synonym: "universal melanosis" EXACT [Orphanet:79146] +xref: GARD:16706 {source="Orphanet:79146"} +xref: GARD:18074 {source="OMIM:614233"} xref: ICD10CM:L81.4 {source="Orphanet:79146/attributed", source="Orphanet:79146/ntbt", source="Orphanet:79146"} xref: OMIM:614233 {source="Orphanet:79146/e", source="MONDO:equivalentTo", source="Orphanet:79146"} xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"} @@ -272478,11 +279997,13 @@ property_value: confidence "1.6470588235294126" xsd:double id: MONDO:0013649 name: hypotrichosis 9 def: "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3." [DOID:0110706, PMID:20054564] +subset: gard_rare {source="GARD:15781"} synonym: "hypotrichosis 9" EXACT [MONDO:Lexical, OMIM:614237] synonym: "hypotrichosis type 9" EXACT [DOID:0110706, MONDORULE:1] synonym: "HYPT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614237] synonym: "hypt9" EXACT [DOID:0110706] xref: DOID:0110706 {source="MONDO:equivalentTo"} +xref: GARD:15781 {source="OMIM:614237"} xref: OMIM:614237 {source="MONDO:equivalentTo", source="DOID:0110706"} xref: Orphanet:55654 {source="OMIM:614237"} xref: UMLS:C3280252 {source="OMIM:614237", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -272494,11 +280015,13 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0013650 name: hypotrichosis 10 def: "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3." [DOID:0110707, PMID:20544222] +subset: gard_rare {source="GARD:15782"} synonym: "hypotrichosis 10" EXACT [MONDO:Lexical, OMIM:614238] synonym: "hypotrichosis type 10" EXACT [DOID:0110707, MONDORULE:2] synonym: "HYPT10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614238] synonym: "hypt10" EXACT [DOID:0110707] xref: DOID:0110707 {source="MONDO:equivalentTo"} +xref: GARD:15782 {source="OMIM:614238"} xref: OMIM:614238 {source="MONDO:equivalentTo", source="DOID:0110707"} xref: Orphanet:55654 {source="OMIM:614238"} xref: UMLS:C3280253 {source="OMIM:614238", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -272510,6 +280033,7 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0013651 name: intellectual disability, autosomal recessive 18 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22552"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic intellectual disability-18" RELATED [GARD:0012233] synonym: "autosomal recessive nonsyndromic mental retardation-18" RELATED DEPRECATED [GARD:0012233] @@ -272522,6 +280046,7 @@ synonym: "mental retardation, autosomal recessive 18" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:614249] synonym: "MRT18" RELATED DEPRECATED [MONDO:Lexical, OMIM:614249] xref: DOID:0081190 {source="MONDO:equivalentTo"} +xref: GARD:22552 {source="OMIM:614249"} xref: OMIM:614249 {source="MONDO:equivalentTo"} xref: UMLS:C3280265 {source="OMIM:614249", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614249", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability @@ -272535,11 +280060,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013652 name: narcolepsy 7 def: "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15783"} synonym: "MOG narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "narcolepsy 7" EXACT [MONDO:Lexical, OMIM:614250] synonym: "narcolepsy caused by mutation in MOG" EXACT [MONDO:design_pattern] synonym: "narcolepsy type 7" EXACT [MONDORULE:1, OMIM:614250] synonym: "NRCLP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614250] +xref: GARD:15783 {source="OMIM:614250"} xref: OMIM:614250 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="OMIM:614250"} xref: UMLS:C3280266 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614250"} @@ -272554,6 +280081,7 @@ property_value: confidence "4.333333333333333" xsd:double id: MONDO:0013653 name: Parkinson disease 18, autosomal dominant, susceptibility to def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18479"} subset: predisposition synonym: "EIF4G1 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in EIF4G1" EXACT [MONDO:design_pattern] @@ -272561,6 +280089,7 @@ synonym: "PARK18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614251] synonym: "Parkinson disease 18" EXACT [OMIM:614251, OMIM:genemap2] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:614251] synonym: "susceptibility to autosomal dominant Parkinson disease 18" RELATED [OMIM:614251] +xref: GARD:18479 {source="OMIM:614251"} xref: OMIM:614251 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:614251"} xref: UMLS:C3280271 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614251"} @@ -272576,9 +280105,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013654 name: aneurysm, intracranial berry, 11 +subset: gard_rare {source="GARD:18329"} synonym: "aneurysm, intracranial BERRY, 11" RELATED [MONDO:Lexical, OMIM:614252] synonym: "ANIB11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614252] xref: DOID:0080974 {source="MONDO:equivalentTo"} +xref: GARD:18329 {source="OMIM:614252"} xref: OMIM:614252 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:614252"} xref: UMLS:C3280275 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614252"} @@ -272589,6 +280120,7 @@ property_value: confidence "2.900441907477719" xsd:double id: MONDO:0013655 name: intellectual disability, autosomal dominant 8 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13686"} synonym: "autosomal dominant intellectual disability 8" EXACT [DOID:0070038] synonym: "autosomal dominant mental retardation 8" EXACT DEPRECATED [DOID:0070038] synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038] @@ -272604,6 +280136,7 @@ synonym: "MRD8" EXACT ABBREVIATION [DOID:0070038, MONDO:Lexical, OMIM:614254] synonym: "NDHMSD" RELATED ABBREVIATION [OMIM:614254] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [OMIM:614254] xref: DOID:0070038 {source="MONDO:equivalentTo"} +xref: GARD:13686 {source="OMIM:614254"} xref: OMIM:614254 {source="DOID:0070038", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:614254"} xref: UMLS:C3280282 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614254"} @@ -272618,6 +280151,7 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0013656 name: intellectual disability, autosomal dominant 9 def: "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." [NCIT:C133742] +subset: gard_rare {source="GARD:16459"} synonym: "autosomal dominant intellectual disability 9" EXACT [DOID:0070039] synonym: "autosomal dominant mental retardation 9" EXACT DEPRECATED [DOID:0070039] synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039] @@ -272630,6 +280164,7 @@ synonym: "mental retardation, autosomal dominant type 9" EXACT DEPRECATED [MONDO synonym: "MRD9" EXACT ABBREVIATION [DOID:0070039, MONDO:Lexical, OMIM:614255] synonym: "NESCAV syndrome" EXACT [OMIM:614255, OMIM:genemap2] xref: DOID:0070039 {source="MONDO:equivalentTo"} +xref: GARD:16459 {source="OMIM:614255"} xref: NCIT:C133742 {source="MONDO:equivalentTo"} xref: OMIM:614255 {source="MONDO:equivalentTo", source="DOID:0070039"} xref: Orphanet:178469 {source="OMIM:614255"} @@ -272647,6 +280182,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013657 name: intellectual disability, autosomal dominant 10 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16460"} synonym: "autosomal dominant intellectual disability 10" EXACT [DOID:0070040] synonym: "autosomal dominant mental retardation 10" EXACT DEPRECATED [DOID:0070040] synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [DOID:0070040] @@ -272658,6 +280194,7 @@ synonym: "mental retardation, autosomal dominant 10" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:614256] synonym: "MRD10" EXACT ABBREVIATION [DOID:0070040, MONDO:Lexical, OMIM:614256] xref: DOID:0070040 {source="MONDO:equivalentTo"} +xref: GARD:16460 {source="OMIM:614256"} xref: OMIM:614256 {source="MONDO:equivalentTo", source="DOID:0070040"} xref: UMLS:C3280284 {source="OMIM:614256", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614256"} ! intellectual disability, autosomal dominant @@ -272671,6 +280208,7 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0013658 name: intellectual disability, autosomal dominant 11 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16461"} synonym: "autosomal dominant intellectual disability 11" EXACT [DOID:0070041] synonym: "autosomal dominant mental retardation 11" EXACT DEPRECATED [DOID:0070041] synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [DOID:0070041] @@ -272683,6 +280221,7 @@ synonym: "mental retardation, autosomal dominant 11" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 11" EXACT DEPRECATED [MONDORULE:2, OMIM:614257] synonym: "MRD11" EXACT ABBREVIATION [DOID:0070041, MONDO:Lexical, OMIM:614257] xref: DOID:0070041 {source="MONDO:equivalentTo"} +xref: GARD:16461 {source="OMIM:614257"} xref: OMIM:614257 {source="MONDO:equivalentTo", source="DOID:0070041"} xref: UMLS:C3280285 {source="OMIM:614257", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614257"} ! intellectual disability, autosomal dominant @@ -272696,12 +280235,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013659 name: microcephaly-capillary malformation syndrome +subset: gard_rare {source="GARD:17354"} subset: ordo_malformation_syndrome {source="Orphanet:294016"} synonym: "MIC-CAP syndrome" EXACT [Orphanet:294016] synonym: "MIC-CM syndrome" EXACT [Orphanet:294016] synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016] +xref: GARD:17354 {source="Orphanet:294016"} xref: ICD10CM:Q87.8 {source="Orphanet:294016/attributed", source="Orphanet:294016/ntbt", source="Orphanet:294016"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614261 {source="Orphanet:294016/e", source="MONDO:equivalentTo", source="Orphanet:294016"} @@ -272728,11 +280269,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013661 name: combined malonic and methylmalonic acidemia def: "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." [Orphanet:289504] +subset: gard_rare {source="GARD:10818"} subset: ordo_disease {source="Orphanet:289504"} synonym: "CMAMMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614265, Orphanet:289504] synonym: "combined malonic and methylmalonic acidemia" EXACT CLINGEN_PREFERRED [] synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504] xref: DOID:0111263 {source="MONDO:equivalentTo"} +xref: GARD:10818 {source="Orphanet:289504"} xref: ICD10CM:E71.1 {source="Orphanet:289504", source="Orphanet:289504/attributed", source="Orphanet:289504/ntbt"} xref: MESH:C580002 {source="MONDO:equivalentTo"} xref: OMIM:614265 {source="MONDO:equivalentTo", source="Orphanet:289504", source="Orphanet:289504/e"} @@ -272809,6 +280352,7 @@ property_value: IAO:0000589 "platelet-activating factor acetylhydrolase deficien id: MONDO:0013664 name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:17752"} subset: ordo_disease {source="Orphanet:443087"} synonym: "46,XY sex reversal 8" RELATED [MONDO:Lexical, OMIM:614279] synonym: "46,XY sex reversal type 8" EXACT [MONDORULE:1, OMIM:614279] @@ -272817,6 +280361,7 @@ synonym: "46XY sex reversal 8, modifier of" EXACT [OMIM:614279, OMIM:genemap2] synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [OMIM:614279] synonym: "SRXY8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614279] xref: DOID:0111773 {source="MONDO:equivalentTo"} +xref: GARD:17752 {source="Orphanet:443087"} xref: ICD10CM:E29.1 {source="Orphanet:443087/attributed", source="Orphanet:443087/ntbt", source="Orphanet:443087"} xref: MESH:C564109 {source="MONDO:equivalentTo"} xref: OMIM:614279 {source="Orphanet:443087/e", source="MONDO:equivalentTo", source="Orphanet:443087"} @@ -272834,10 +280379,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013665 name: epilepsy, juvenile myoclonic, susceptibility to, 9 +subset: gard_rare {source="GARD:15784"} subset: predisposition synonym: "EJM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614280] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:614280] xref: DOID:0111328 {source="MONDO:equivalentTo"} +xref: GARD:15784 {source="OMIM:614280"} xref: OMIM:614280 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:614280"} xref: UMLS:C3280332 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614280"} @@ -272850,10 +280397,12 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0013666 name: Stickler syndrome, type 5 def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18359"} synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A2" EXACT [MONDO:design_pattern] synonym: "COL9A2 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical, OMIM:614284] synonym: "STL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614284] +xref: GARD:18359 {source="OMIM:614284"} xref: OMIM:614284 {source="MONDO:equivalentTo"} xref: Orphanet:250984 {source="OMIM:614284"} xref: Orphanet:828 {source="OMIM:614284"} @@ -272873,7 +280422,7 @@ replaced_by: MONDO:0018881 id: MONDO:0013668 name: tetrasomy 18p def: "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." [Orphanet:3307] -subset: gard_rare +subset: gard_rare {source="GARD:35"} subset: ordo_malformation_syndrome {source="Orphanet:3307"} synonym: "chromosome 18p tetrasomy" RELATED [GARD:0000035] synonym: "Isochromosome 18p" EXACT [GARD:0000035, Orphanet:3307] @@ -272882,6 +280431,7 @@ synonym: "tetrasomy 18p" EXACT [GARD:0000035, OMIM:614290] synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035] synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290] synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307] +xref: GARD:35 {source="Orphanet:3307"} xref: ICD10CM:Q99.8 {source="Orphanet:3307", source="Orphanet:3307/attributed", source="Orphanet:3307/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538306 {source="MONDO:equivalentTo"} @@ -272899,6 +280449,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013669 name: breast-ovarian cancer, familial, susceptibility to, 4 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15785"} subset: predisposition synonym: "breast-ovarian cancer, familial, susceptibility to, 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614291] synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614291] @@ -272906,6 +280457,7 @@ synonym: "BROVCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614291] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" EXACT [MONDO:design_pattern] synonym: "RAD51D hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:614291] +xref: GARD:15785 {source="OMIM:614291"} xref: OMIM:614291 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:614291"} xref: UMLS:C3280345 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614291"} @@ -272920,8 +280472,10 @@ property_value: confidence "0.30029721079103755" xsd:double [Term] id: MONDO:0013670 name: myopia, high, with cataract and vitreoretinal degeneration +subset: gard_rare {source="GARD:18197"} synonym: "MCVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614292] synonym: "myopia, high, with cataract and vitreoretinal degeneration" EXACT [MONDO:Lexical, OMIM:614292] +xref: GARD:18197 {source="OMIM:614292"} xref: OMIM:614292 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="OMIM:614292"} xref: UMLS:C3280346 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614292"} @@ -272934,6 +280488,7 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0013671 name: hydatidiform mole, recurrent, 2 def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18366"} synonym: "complete hydatidiform mole caused by mutation in KHDC3L" EXACT [MONDO:design_pattern] synonym: "hydatidiform Mole, complete" RELATED [OMIM:614293] synonym: "hydatidiform MOLE, recurrent, 2" RELATED [OMIM:614293] @@ -272941,6 +280496,7 @@ synonym: "hydatidiform mole, recurrent, 2" EXACT CLINGEN_PREFERRED [MONDO:Lexica synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1, OMIM:614293] synonym: "HYDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614293] synonym: "KHDC3L complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18366 {source="OMIM:614293"} xref: OMIM:614293 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="OMIM:614293"} xref: Orphanet:99927 {source="OMIM:614293"} @@ -272971,6 +280527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013673 name: Wolfram-like syndrome def: "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." [Orphanet:411590] +subset: gard_rare {source="GARD:17683"} subset: ordo_disease {source="Orphanet:411590"} synonym: "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" RELATED [OMIM:614296] synonym: "WFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614296] @@ -272978,6 +280535,7 @@ synonym: "Wolfram-like syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Wolfram-like syndrome, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614296] xref: DOID:0080584 {source="MONDO:equivalentTo"} xref: EFO:0009063 {source="MONDO:equivalentTo"} +xref: GARD:17683 {source="Orphanet:411590"} xref: ICD10CM:E13.8 {source="Orphanet:411590/attributed", source="Orphanet:411590/ntbt", source="Orphanet:411590"} xref: MESH:C565631 {source="MONDO:equivalentTo"} xref: OMIM:614296 {source="Orphanet:411590/e", source="MONDO:equivalentTo", source="Orphanet:411590"} @@ -272995,6 +280553,7 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0013674 name: neurodegeneration with brain iron accumulation 4 def: "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." [Orphanet:289560] +subset: gard_rare {source="GARD:12569"} subset: ordo_disease {source="Orphanet:289560"} synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560] @@ -273007,6 +280566,7 @@ synonym: "neurodegeneration with brain iron accumulation caused by mutation in C synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560] xref: DOID:0110738 {source="MONDO:equivalentTo"} +xref: GARD:12569 {source="Orphanet:289560"} xref: ICD10CM:G23.0 {source="DOID:0110738", source="Orphanet:289560/attributed", source="Orphanet:289560/ntbt", source="Orphanet:289560"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C175707 {source="MONDO:equivalentTo"} @@ -273024,6 +280584,7 @@ property_value: confidence "106.50000000000016" xsd:double id: MONDO:0013675 name: multiple mitochondrial dysfunctions syndrome 2 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17662"} subset: ordo_disease {source="Orphanet:401874"} synonym: "BOLA3 deficiency" EXACT [Orphanet:401874] synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -273033,6 +280594,7 @@ synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299] xref: DOID:0080134 {source="MONDO:equivalentTo"} +xref: GARD:17662 {source="Orphanet:401874"} xref: ICD10CM:E88.8 {source="Orphanet:401874/attributed", source="Orphanet:401874/ntbt", source="Orphanet:401874"} xref: OMIM:614299 {source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo", source="Orphanet:401874/e"} xref: Orphanet:289573 {source="OMIM:614299"} @@ -273056,6 +280618,7 @@ replaced_by: MONDO:0100255 id: MONDO:0013677 name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18208"} synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] synonym: "EDMD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614302] synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:614302, OMIM:genemap2] @@ -273063,6 +280626,7 @@ synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" RELATED [OMIM synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614302] synonym: "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070252 {source="MONDO:equivalentTo"} +xref: GARD:18208 {source="OMIM:614302"} xref: OMIM:614302 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:614302"} xref: Orphanet:98853 {source="OMIM:614302"} @@ -273079,6 +280643,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013678 name: EDICT syndrome def: "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." [Orphanet:293936] +subset: gard_rare {source="GARD:17349"} subset: ordo_disease {source="Orphanet:293936"} synonym: "autosomal dominant keratoconus with early-onset anterior polar cataracts" EXACT [Orphanet:293936] synonym: "EDICT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614303] @@ -273089,6 +280654,7 @@ synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936] synonym: "keratoconus with cataract" RELATED [OMIM:614303] synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303] synonym: "KTCNCT" EXACT ABBREVIATION [Orphanet:293936] +xref: GARD:17349 {source="Orphanet:293936"} xref: OMIM:614303 {source="Orphanet:293936", source="MONDO:equivalentTo", source="Orphanet:293936/e"} xref: Orphanet:293936 {source="OMIM:614303", source="MONDO:equivalentTo"} xref: SCTID:722439009 {source="MONDO:equivalentTo"} @@ -273104,12 +280670,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013679 name: sclerosteosis 2 def: "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15786"} synonym: "LRP4 sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sclerosteosis 2" EXACT [MONDO:Lexical, OMIM:614305] synonym: "sclerosteosis caused by mutation in LRP4" EXACT [MONDO:design_pattern] synonym: "sclerosteosis type 2" EXACT [DOID:0060757, MONDORULE:1, OMIM:614305] synonym: "SOST2" EXACT ABBREVIATION [DOID:0060757, MONDO:Lexical, OMIM:614305] xref: DOID:0060757 {source="MONDO:equivalentTo"} +xref: GARD:15786 {source="OMIM:614305"} xref: ICD10CM:M85.2 {source="DOID:0060757"} xref: OMIM:614305 {source="MONDO:equivalentTo", source="DOID:0060757"} xref: Orphanet:3152 {source="OMIM:614305", source="DOID:0060757"} @@ -273135,12 +280703,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013681 name: alpha-methylacyl-CoA racemase deficiency def: "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." [https://github.com/monarch-initiative/mondo/issues/2632, NCIT:C119677] +subset: gard_rare {source="GARD:15787"} synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614307] synonym: "AMACR" EXACT ABBREVIATION [NCIT:C119677] synonym: "AMACR deficiency" EXACT [DOID:0060602, https://www.clinicalgenome.org/affiliation/40049/, OMIM:614307] synonym: "AMACRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614307] xref: DOID:0060602 {source="MONDO:equivalentTo"} xref: EFO:1001980 {source="MONDO:equivalentTo"} +xref: GARD:15787 {source="OMIM:614307"} xref: MESH:C565768 {source="MONDO:equivalentTo"} xref: NCIT:C119677 {source="MONDO:equivalentTo"} xref: OMIM:614307 {source="MONDO:equivalentTo", source="DOID:0060602"} @@ -273156,8 +280726,10 @@ property_value: excluded_subClassOf "'congenital bile acid synthesis defect 4'" [Term] id: MONDO:0013682 name: vesicoureteral reflux 4 +subset: gard_rare {source="GARD:18421"} synonym: "vesicoureteral reflux 4" EXACT [MONDO:Lexical, OMIM:614317] synonym: "VUR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614317] +xref: GARD:18421 {source="OMIM:614317"} xref: OMIM:614317 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:614317"} xref: UMLS:C3280439 {source="MONDO:equivalentTo", source="OMIM:614317", source="MONDO:ncbi_mim2gene_medline"} @@ -273167,8 +280739,10 @@ property_value: confidence "2.5986147714285717" xsd:double [Term] id: MONDO:0013683 name: vesicoureteral reflux 5 +subset: gard_rare {source="GARD:18422"} synonym: "vesicoureteral reflux 5" EXACT [MONDO:Lexical, OMIM:614318] synonym: "VUR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614318] +xref: GARD:18422 {source="OMIM:614318"} xref: OMIM:614318 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:614318"} xref: UMLS:C3280440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614318"} @@ -273178,8 +280752,10 @@ property_value: confidence "2.5986147714285717" xsd:double [Term] id: MONDO:0013684 name: vesicoureteral reflux 6 +subset: gard_rare {source="GARD:18423"} synonym: "vesicoureteral reflux 6" EXACT [MONDO:Lexical, OMIM:614319] synonym: "VUR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614319] +xref: GARD:18423 {source="OMIM:614319"} xref: OMIM:614319 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:614319"} xref: UMLS:C3280441 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614319"} @@ -273190,6 +280766,7 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0013685 name: pancreatic cancer, susceptibility to, 4 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15788"} subset: predisposition synonym: "BRCA1 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial pancreatic carcinoma caused by mutation in BRCA1" EXACT [MONDO:design_pattern] @@ -273197,6 +280774,7 @@ synonym: "pancreatic cancer, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:61 synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614320] synonym: "PNCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614320] synonym: "susceptibility to pancreatic cancer 4" RELATED [OMIM:614320] +xref: GARD:15788 {source="OMIM:614320"} xref: OMIM:614320 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:614320"} xref: UMLS:C3280442 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614320"} @@ -273211,10 +280789,12 @@ property_value: confidence "2.423076923076922" xsd:double id: MONDO:0013686 name: distal myopathy, Tateyama type def: "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." [Orphanet:488650] +subset: gard_rare {source="GARD:17900"} subset: ordo_disease synonym: "MPDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614321] synonym: "myopathy, distal, Tateyama type" RELATED [MONDO:Lexical, OMIM:614321] xref: DOID:0111191 {source="MONDO:equivalentTo"} +xref: GARD:17900 {source="Orphanet:488650"} xref: OMIM:614321 {source="MONDO:equivalentTo", source="Orphanet:488650"} xref: Orphanet:488650 {source="MONDO:equivalentTo"} xref: SCTID:711265009 {source="MONDO:equivalentTo"} @@ -273227,6 +280807,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013687 name: autosomal recessive spinocerebellar ataxia 12 def: "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." [Orphanet:284282] +subset: gard_rare {source="GARD:17313"} subset: ordo_disease {source="Orphanet:284282"} synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" EXACT [] synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282] @@ -273241,6 +280822,7 @@ synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE: synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080060 {source="MONDO:equivalentTo"} +xref: GARD:17313 {source="Orphanet:284282"} xref: ICD10CM:G11.1 {source="Orphanet:284282", source="Orphanet:284282/attributed", source="Orphanet:284282/ntbt"} xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="Orphanet:284282/e", source="DOID:0080060"} xref: Orphanet:284282 {source="OMIM:614322", source="MONDO:equivalentTo"} @@ -273255,7 +280837,7 @@ property_value: confidence "12.4375" xsd:double id: MONDO:0013688 name: linear and whorled nevoid hypermelanosis def: "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis] -subset: gard_rare {source="GARD:0011004"} +subset: gard_rare {source="GARD:11004"} subset: ordo_disease {source="Orphanet:79150"} synonym: "Becker Nevus" EXACT [NCIT:C3924] synonym: "Becker's Nevus" EXACT [NCIT:C3924] @@ -273272,6 +280854,7 @@ synonym: "reticulate hyperpigmentation of Iijima" RELATED [GARD:0011004] synonym: "zebra-like hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform lentiginous nevus" RELATED [GARD:0011004] +xref: GARD:11004 {source="Orphanet:79150"} xref: ICD10CM:L81.4 {source="Orphanet:79150", source="Orphanet:79150/attributed", source="Orphanet:79150/ntbt"} xref: NCIT:C3924 {source="MONDO:equivalentTo"} xref: OMIM:614323 {source="MONDO:equivalentTo", source="Orphanet:79150", source="Orphanet:79150/e"} @@ -273289,12 +280872,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11004/linear id: MONDO:0013689 name: ovarian dysgenesis 3 def: "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18041"} synonym: "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" EXACT [MONDO:design_pattern] synonym: "ODG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614324] synonym: "ovarian dysgenesis 3" EXACT [MONDO:Lexical, OMIM:614324] synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1, OMIM:614324] synonym: "PSMC3IP 46 XX gonadal dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080495 {source="MONDO:equivalentTo"} +xref: GARD:18041 {source="OMIM:614324"} xref: OMIM:614324 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:614324"} xref: UMLS:C3280471 {source="OMIM:614324", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -273326,6 +280911,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013691 name: Feingold syndrome type 2 def: "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." [Orphanet:391646] +subset: gard_rare {source="GARD:17625"} subset: ordo_clinical_subtype {source="Orphanet:391646"} synonym: "brachydactyly with short stature and microcephaly" RELATED [OMIM:614326] synonym: "brachydactyly-short stature-microcephaly syndrome" EXACT [Orphanet:391646] @@ -273337,6 +280923,7 @@ synonym: "FS2" EXACT ABBREVIATION [Orphanet:391646] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646] synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2" EXACT [Orphanet:391646] synonym: "MMT type 2" EXACT [Orphanet:391646] +xref: GARD:17625 {source="Orphanet:391646"} xref: ICD10CM:Q87.8 {source="Orphanet:391646/attributed", source="Orphanet:391646/ntbt", source="Orphanet:391646"} xref: OMIM:614326 {source="Orphanet:391646/e", source="MONDO:equivalentTo", source="Orphanet:391646"} xref: Orphanet:1305 {source="OMIM:614326"} @@ -273353,6 +280940,7 @@ property_value: confidence "5.000000000000001" xsd:double id: MONDO:0013692 name: BAP1-related tumor predisposition syndrome def: "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." [Orphanet:289539] +subset: gard_rare {source="GARD:13219"} subset: ordo_disease {source="Orphanet:289539"} synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219] synonym: "BAP1 tumour predisposition syndrome" RELATED OMO:0003005 [] @@ -273362,6 +280950,7 @@ synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327] synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539] synonym: "tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 [] +xref: GARD:13219 {source="Orphanet:289539"} xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"} xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"} xref: SCTID:765057007 {source="MONDO:equivalentTo"} @@ -273374,11 +280963,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013693 name: inflammatory skin and bowel disease, neonatal, 1 def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18429"} synonym: "ADAM17 neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inflammatory skin and bowel disease, neonatal, 1" EXACT [MONDO:Lexical, OMIM:614328] synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1, OMIM:614328] synonym: "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17" EXACT [MONDO:design_pattern] synonym: "NISBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614328] +xref: GARD:18429 {source="OMIM:614328"} xref: OMIM:614328 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="OMIM:614328"} xref: UMLS:C3280501 {source="MONDO:equivalentTo", source="OMIM:614328", source="MONDO:ncbi_mim2gene_medline"} @@ -273391,10 +280982,12 @@ property_value: confidence "29.33333333333344" xsd:double [Term] id: MONDO:0013694 name: intellectual disability, autosomal recessive 31 +subset: gard_rare {source="GARD:22553"} synonym: "intellectual disability, autosomal recessive 31" EXACT [MONDO:Lexical, OMIM:614329] synonym: "mental retardation, autosomal recessive 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:614329] synonym: "MRT31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614329] xref: DOID:0081191 {source="MONDO:equivalentTo"} +xref: GARD:22553 {source="OMIM:614329"} xref: OMIM:614329 {source="MONDO:equivalentTo"} xref: UMLS:C3280523 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614329"} is_a: MONDO:0019502 {source="DC-OMIM:614329", source="OMIM:614329"} ! autosomal recessive non-syndromic intellectual disability @@ -273404,12 +280997,14 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013695 name: colorectal cancer, hereditary nonpolyposis, type 6 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15789"} synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [OMIM:614331] synonym: "colorectal cancer, hereditary nonpolyposis, type 6" EXACT [MONDO:Lexical, OMIM:614331] synonym: "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2" EXACT [MONDO:design_pattern] synonym: "HNPCC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614331] synonym: "TGFBR2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070273 {source="MONDO:equivalentTo"} +xref: GARD:15789 {source="OMIM:614331"} xref: MESH:C566039 {source="MONDO:equivalentTo"} xref: OMIM:614331 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614331"} @@ -273443,10 +281038,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013697 name: intellectual disability, autosomal recessive 29 +subset: gard_rare {source="GARD:22554"} synonym: "intellectual disability, autosomal recessive 29" EXACT [MONDO:Lexical, OMIM:614333] synonym: "mental retardation, autosomal recessive 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:614333] synonym: "MRT29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614333] xref: DOID:0081192 {source="MONDO:equivalentTo"} +xref: GARD:22554 {source="OMIM:614333"} xref: OMIM:614333 {source="MONDO:equivalentTo"} xref: UMLS:C3280525 {source="OMIM:614333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614333", source="OMIM:614333"} ! autosomal recessive non-syndromic intellectual disability @@ -273455,9 +281052,11 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013698 name: arthrogryposis, distal, type 1B +subset: gard_rare {source="GARD:15790"} synonym: "arthrogryposis, distal, type 1B" EXACT [MONDO:Lexical, OMIM:614335] synonym: "DA1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614335] xref: DOID:0111598 {source="MONDO:equivalentTo"} +xref: GARD:15790 {source="OMIM:614335"} xref: OMIM:614335 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="OMIM:614335"} xref: UMLS:C3280526 {source="OMIM:614335", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -273470,11 +281069,13 @@ property_value: confidence "2.220446049250313E-16" xsd:double id: MONDO:0013699 name: Lynch syndrome 4 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15791"} synonym: "colorectal cancer, hereditary nonpolyposis, type 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614337] synonym: "hereditary nonpolyposis colon cancer caused by mutation in PMS2" EXACT [MONDO:design_pattern] synonym: "HNPCC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614337] synonym: "PMS2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070275 {source="MONDO:equivalentTo"} +xref: GARD:15791 {source="OMIM:614337"} xref: MESH:C563971 {source="MONDO:equivalentTo"} xref: OMIM:614337 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614337"} @@ -273493,6 +281094,7 @@ id: MONDO:0013700 name: pancreatic triacylglycerol lipase deficiency def: "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." [NCIT:C129030] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005073) ontology branch (https://orcid.org/0000-0002-1780-5237), and the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:17401"} subset: ordo_disease {source="Orphanet:309031"} synonym: "colipase, congenital absence of pancreatic" RELATED [OMIM:614338] synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [OMIM:614338] @@ -273503,6 +281105,7 @@ synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338] synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031] synonym: "PL deficiency" RELATED [OMIM:614338] synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338] +xref: GARD:17401 {source="Orphanet:309031"} xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129030 {source="MONDO:equivalentTo"} @@ -273543,6 +281146,7 @@ replaced_by: MONDO:0016396 id: MONDO:0013702 name: intellectual disability, autosomal recessive 27 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22555"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern] synonym: "intellectual developmental disorder, autosomal recessive 27" EXACT [OMIM:614340, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 27" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614340] @@ -273552,6 +281156,7 @@ synonym: "mental retardation, autosomal recessive 27" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:614340] synonym: "MRT27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340] xref: DOID:0081193 {source="MONDO:equivalentTo"} +xref: GARD:22555 {source="OMIM:614340"} xref: OMIM:614340 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614340"} xref: UMLS:C3280538 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614340"} @@ -273565,10 +281170,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013703 name: intellectual disability, autosomal recessive 33 +subset: gard_rare {source="GARD:22556"} synonym: "intellectual disability, autosomal recessive 33" EXACT [MONDO:Lexical, OMIM:614341] synonym: "mental retardation, autosomal recessive 33" RELATED DEPRECATED [MONDO:Lexical, OMIM:614341] synonym: "MRT33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614341] xref: DOID:0081194 {source="MONDO:equivalentTo"} +xref: GARD:22556 {source="OMIM:614341"} xref: OMIM:614341 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614341"} xref: UMLS:C3280539 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614341"} @@ -273578,10 +281185,12 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013704 name: intellectual disability, autosomal recessive 30 +subset: gard_rare {source="GARD:22557"} synonym: "intellectual disability, autosomal recessive 30" EXACT [MONDO:Lexical, OMIM:614342] synonym: "mental retardation, autosomal recessive 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:614342] synonym: "MRT30" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614342] xref: DOID:0081195 {source="MONDO:equivalentTo"} +xref: GARD:22557 {source="OMIM:614342"} xref: OMIM:614342 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614342"} xref: UMLS:C3280540 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614342"} @@ -273591,9 +281200,11 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013705 name: intellectual disability, autosomal recessive 19 +subset: gard_rare {source="GARD:22558"} synonym: "intellectual disability, autosomal recessive 19" EXACT [MONDO:Lexical, OMIM:614343] synonym: "mental retardation, autosomal recessive 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:614343] synonym: "MRT19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614343] +xref: GARD:22558 {source="OMIM:614343"} xref: OMIM:614343 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614343"} xref: UMLS:C3280541 {source="OMIM:614343", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -273603,10 +281214,12 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013706 name: intellectual disability, autosomal recessive 23 +subset: gard_rare {source="GARD:22559"} synonym: "intellectual disability, autosomal recessive 23" EXACT [MONDO:Lexical, OMIM:614344] synonym: "mental retardation, autosomal recessive 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:614344] synonym: "MRT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614344] xref: DOID:0081196 {source="MONDO:equivalentTo"} +xref: GARD:22559 {source="OMIM:614344"} xref: OMIM:614344 {source="MONDO:equivalentTo"} xref: UMLS:C3280542 {source="OMIM:614344", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614344", source="OMIM:614344"} ! autosomal recessive non-syndromic intellectual disability @@ -273615,10 +281228,12 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013707 name: intellectual disability, autosomal recessive 24 +subset: gard_rare {source="GARD:22560"} synonym: "intellectual disability, autosomal recessive 24" EXACT [MONDO:Lexical, OMIM:614345] synonym: "mental retardation, autosomal recessive 24" RELATED DEPRECATED [MONDO:Lexical, OMIM:614345] synonym: "MRT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614345] xref: DOID:0081197 {source="MONDO:equivalentTo"} +xref: GARD:22560 {source="OMIM:614345"} xref: OMIM:614345 {source="MONDO:equivalentTo"} xref: UMLS:C3280543 {source="OMIM:614345", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614345", source="OMIM:614345"} ! autosomal recessive non-syndromic intellectual disability @@ -273627,10 +281242,12 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013708 name: intellectual disability, autosomal recessive 25 +subset: gard_rare {source="GARD:22561"} synonym: "intellectual disability, autosomal recessive 25" EXACT [MONDO:Lexical, OMIM:614346] synonym: "mental retardation, autosomal recessive 25" RELATED DEPRECATED [MONDO:Lexical, OMIM:614346] synonym: "MRT25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614346] xref: DOID:0081198 {source="MONDO:equivalentTo"} +xref: GARD:22561 {source="OMIM:614346"} xref: OMIM:614346 {source="MONDO:equivalentTo"} xref: UMLS:C3280544 {source="OMIM:614346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614346", source="OMIM:614346"} ! autosomal recessive non-syndromic intellectual disability @@ -273639,10 +281256,12 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013709 name: intellectual disability, autosomal recessive 28 +subset: gard_rare {source="GARD:22562"} synonym: "intellectual disability, autosomal recessive 28" EXACT [MONDO:Lexical, OMIM:614347] synonym: "mental retardation, autosomal recessive 28" RELATED DEPRECATED [MONDO:Lexical, OMIM:614347] synonym: "MRT28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614347] xref: DOID:0081199 {source="MONDO:equivalentTo"} +xref: GARD:22562 {source="OMIM:614347"} xref: OMIM:614347 {source="MONDO:equivalentTo"} xref: UMLS:C3280545 {source="OMIM:614347", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:614347", source="OMIM:614347"} ! autosomal recessive non-syndromic intellectual disability @@ -273652,11 +281271,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013710 name: Lynch syndrome 5 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15792"} synonym: "colorectal cancer, hereditary nonpolyposis, type 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614350] synonym: "hereditary nonpolyposis colon cancer caused by mutation in MSH6" EXACT [MONDO:design_pattern] synonym: "HNPCC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614350] synonym: "MSH6 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070272 {source="MONDO:equivalentTo"} +xref: GARD:15792 {source="OMIM:614350"} xref: MESH:C563456 {source="MONDO:equivalentTo"} xref: OMIM:614350 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614350"} @@ -273673,10 +281294,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013711 name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +subset: gard_rare {source="GARD:17639"} subset: ordo_disease {source="Orphanet:397744"} synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369] synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744] synonym: "PNMHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614369] +xref: GARD:17639 {source="Orphanet:397744"} xref: ICD10CM:G60.0 {source="Orphanet:397744", source="Orphanet:397744/attributed", source="Orphanet:397744/ntbt"} xref: OMIM:614369 {source="MONDO:equivalentTo", source="Orphanet:397744", source="Orphanet:397744/e"} xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"} @@ -273690,6 +281313,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013712 name: surfactant metabolism dysfunction, pulmonary, 5 def: "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15793"} synonym: "Csf2Rb deficiency" RELATED [OMIM:614370] synonym: "CSF2RB hereditary pulmonary alveolar proteinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" EXACT [MONDO:design_pattern] @@ -273698,6 +281322,7 @@ synonym: "pulmonary alveolar proteinosis 5" RELATED [OMIM:614370] synonym: "SMDP5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614370] synonym: "surfactant metabolism dysfunction, pulmonary, 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614370] synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE:1, OMIM:614370] +xref: GARD:15793 {source="OMIM:614370"} xref: OMIM:614370 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="OMIM:614370"} xref: UMLS:C3280574 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614370"} @@ -273754,12 +281379,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013715 name: amyotrophic lateral sclerosis type 16 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15794"} synonym: "ALS16" EXACT ABBREVIATION [DOID:0060207, MONDO:Lexical, OMIM:614373] synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207, OMIM:614373] synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [DOID:0060207, MONDO:Lexical, OMIM:614373] synonym: "amyotrophic lateral sclerosis caused by mutation in SIGMAR1" EXACT [MONDO:design_pattern] synonym: "SIGMAR1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060207 {source="MONDO:equivalentTo"} +xref: GARD:15794 {source="OMIM:614373"} xref: OMIM:614373 {source="MONDO:equivalentTo", source="DOID:0060207"} xref: Orphanet:300605 {source="OMIM:614373"} xref: UMLS:C3280587 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614373"} @@ -273774,8 +281401,10 @@ property_value: confidence "0.028571428571429136" xsd:double [Term] id: MONDO:0013716 name: aortic aneurysm, familial abdominal, 4 +subset: gard_rare {source="GARD:16494"} synonym: "AAA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614375] synonym: "aortic aneurysm, familial abdominal, 4" EXACT [MONDO:Lexical, OMIM:614375] +xref: GARD:16494 {source="OMIM:614375"} xref: OMIM:614375 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="OMIM:614375"} xref: UMLS:C3280597 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614375"} @@ -273786,6 +281415,7 @@ property_value: confidence "1.144117647058823" xsd:double id: MONDO:0013717 name: asphyxiating thoracic dystrophy 5 def: "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15795"} synonym: "asphyxiating thoracic dystrophy 5" EXACT [OMIM:614376] synonym: "asphyxiating thoracic dystrophy type 5" EXACT [DOID:0110089, MONDORULE:1] synonym: "ATD5" EXACT ABBREVIATION [DOID:0110089] @@ -273794,6 +281424,7 @@ synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [DOI synonym: "SRTD5" EXACT ABBREVIATION [DOID:0110089, MONDO:Lexical, OMIM:614376] synonym: "WDR19 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110089 {source="MONDO:equivalentTo"} +xref: GARD:15795 {source="OMIM:614376"} xref: ICD10CM:Q77.2 {source="DOID:0110089"} xref: OMIM:614376 {source="MONDO:equivalentTo", source="DOID:0110089"} xref: Orphanet:474 {source="OMIM:614376"} @@ -273821,10 +281452,12 @@ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:6 [Term] id: MONDO:0013719 name: cranioectodermal dysplasia 4 +subset: gard_rare {source="GARD:15796"} synonym: "CED4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614378] synonym: "cranioectodermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614378] synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378] xref: DOID:0080806 {source="MONDO:equivalentTo"} +xref: GARD:15796 {source="OMIM:614378"} xref: OMIM:614378 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:614378"} xref: UMLS:C3280616 {source="OMIM:614378", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -273837,6 +281470,7 @@ property_value: confidence "2.47142857142857" xsd:double id: MONDO:0013720 name: complement component 4b deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15797"} synonym: "C4B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C4B deficiency" RELATED [OMIM:614379] synonym: "C4BD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614379] @@ -273844,6 +281478,7 @@ synonym: "classic complement early component deficiency caused by mutation in C4 synonym: "complement component 4B deficiency" RELATED [OMIM:614379] synonym: "complement component 4b deficiency" EXACT [MONDO:Lexical, OMIM:614379] xref: DOID:0060298 {source="MONDO:equivalentTo"} +xref: GARD:15797 {source="OMIM:614379"} xref: ICD10CM:D84.1 {source="DOID:0060298"} xref: OMIM:614379 {source="DOID:0060298", source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="OMIM:614379", source="DOID:0060298"} @@ -273859,6 +281494,7 @@ property_value: confidence "1.1504873407530516" xsd:double id: MONDO:0013721 name: complement component 4a deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15798"} synonym: "C4A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "C4A deficiency" RELATED [OMIM:614380] synonym: "C4AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614380] @@ -273866,6 +281502,7 @@ synonym: "classic complement early component deficiency caused by mutation in C4 synonym: "complement component 4A deficiency" RELATED [OMIM:614380] synonym: "complement component 4a deficiency" EXACT [MONDO:Lexical, OMIM:614380] xref: DOID:0060297 {source="MONDO:equivalentTo"} +xref: GARD:15798 {source="OMIM:614380"} xref: ICD10CM:D84.1 {source="DOID:0060297"} xref: MESH:C565167 {source="MONDO:equivalentTo"} xref: OMIM:614380 {source="DOID:0060297", source="MONDO:equivalentTo"} @@ -273884,6 +281521,7 @@ id: MONDO:0013722 name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." [MONDO:patterns/disease_series_by_gene] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:18624", source="GARD:1195"} subset: ordo_malformation_syndrome {source="Orphanet:85186"} synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [OMIM:213002] synonym: "endosteal sclerosis-cerebellar hypoplasia syndrome" EXACT [MONDO:0008940] @@ -273892,6 +281530,8 @@ synonym: "leukodystrophy caused by mutation in POLR3B" EXACT [MONDO:design_patte synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:614381] synonym: "POLR3B leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060797 {source="MONDO:equivalentTo"} +xref: GARD:1195 {source="Orphanet:85186"} +xref: GARD:18624 {source="OMIM:614381"} xref: ICD10CM:G11.1 {source="DOID:0060797"} xref: ICD10CM:Q87.8 {source="Orphanet:85186/attributed", source="Orphanet:85186/ntbt", source="Orphanet:85186"} xref: MESH:C535353 {source="Orphanet:85186/e", source="MONDO:equivalentTo", source="Orphanet:85186"} @@ -273965,11 +281605,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013725 name: colorectal cancer, hereditary nonpolyposis, type 7 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15799"} synonym: "colorectal cancer, hereditary nonpolyposis, type 7" EXACT [MONDO:Lexical, OMIM:614385] synonym: "hereditary nonpolyposis colon cancer caused by mutation in MLH3" EXACT [MONDO:design_pattern] synonym: "HNPCC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614385] synonym: "MLH3 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070276 {source="MONDO:equivalentTo"} +xref: GARD:15799 {source="OMIM:614385"} xref: MESH:C565777 {source="MONDO:equivalentTo"} xref: OMIM:614385 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614385"} @@ -273985,6 +281627,7 @@ property_value: confidence "1.8332670714421453" xsd:double [Term] id: MONDO:0013726 name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +subset: gard_rare {source="GARD:17509"} subset: ordo_disease {source="Orphanet:330050"} synonym: "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] synonym: "EMPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614388] @@ -273994,6 +281637,7 @@ synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal synonym: "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" EXACT CLINGEN_PREFERRED [] synonym: "lethal encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [UMLS:C3280660] xref: DOID:0070347 {source="MONDO:equivalentTo"} +xref: GARD:17509 {source="Orphanet:330050"} xref: ICD10CM:G31.8 {source="Orphanet:330050/attributed", source="Orphanet:330050/ntbt", source="Orphanet:330050"} xref: OMIM:614388 {source="Orphanet:330050/e", source="MONDO:equivalentTo", source="Orphanet:330050"} xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"} @@ -274070,6 +281714,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013730 name: graft versus host disease def: "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." [Orphanet:39812] +subset: gard_rare {source="GARD:16642"} subset: ordo_disease {source="Orphanet:39812"} synonym: "disease, graft-versus-host" EXACT [MESH:D006086] synonym: "disease, graft-vs-host" EXACT [MESH:D006086] @@ -274092,6 +281737,7 @@ synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063] synonym: "homologous wasting disease" RELATED [MESH:D006086] synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063] xref: DOID:0081267 {source="MONDO:equivalentTo"} +xref: GARD:16642 {source="Orphanet:39812"} xref: ICD10CM:T86.0 {source="Orphanet:39812/ntbt", source="Orphanet:39812"} xref: ICD9:279.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10018651 {source="Orphanet:39812/e", source="Orphanet:39812"} @@ -274111,6 +281757,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013731 name: MEGF10-related myopathy +subset: gard_rare {source="GARD:12199"} subset: ordo_disease {source="Orphanet:439212"} synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT OMO:0003005 [] synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT [PMID:22371254, PMID:27460346] @@ -274123,6 +281770,7 @@ synonym: "MEGF10-related myopathy" EXACT CLINGEN_PREFERRED [] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical, OMIM:614399] synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399] xref: DOID:0111333 {source="MONDO:equivalentTo"} +xref: GARD:12199 {source="Orphanet:439212"} xref: ICD10CM:G71.2 {source="Orphanet:439212", source="Orphanet:439212/attributed", source="Orphanet:439212/ntbt"} xref: OMIM:614399 {source="Orphanet:439212/e", source="MONDO:equivalentTo", source="Orphanet:439212"} xref: Orphanet:439212 {source="MONDO:equivalentTo"} @@ -274179,11 +281827,13 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0013735 name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome def: "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." [Orphanet:329332] +subset: gard_rare {source="GARD:17502"} subset: ordo_malformation_syndrome {source="Orphanet:329332"} synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614407] synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407] synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332] synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407] +xref: GARD:17502 {source="Orphanet:329332"} xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", source="Orphanet:329332"} xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"} xref: UMLS:C3280692 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614407"} @@ -274205,6 +281855,7 @@ replaced_by: MONDO:0008048 id: MONDO:0013737 name: hereditary spastic paraplegia 46 def: "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." [Orphanet:320391] +subset: gard_rare {source="GARD:17476"} subset: ordo_disease {source="Orphanet:320391"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798] @@ -274215,6 +281866,7 @@ synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE: synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409] synonym: "SPG46" EXACT ABBREVIATION [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391] xref: DOID:0110798 {source="MONDO:equivalentTo"} +xref: GARD:17476 {source="Orphanet:320391"} xref: ICD10CM:G11.4 {source="DOID:0110798", source="Orphanet:320391/attributed", source="Orphanet:320391/ntbt", source="Orphanet:320391"} xref: OMIM:614409 {source="DOID:0110798", source="Orphanet:320391/e", source="MONDO:equivalentTo", source="Orphanet:320391"} xref: Orphanet:320391 {source="DOID:0110798", source="MONDO:equivalentTo", source="OMIM:614409"} @@ -274231,12 +281883,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013738 name: autosomal recessive nonsyndromic hearing loss 96 def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13." [DOID:0110538, PMID:21937999] +subset: gard_rare {source="GARD:22642"} synonym: "autosomal recessive deafness 96" NARROW [DOID:0110538] synonym: "autosomal recessive nonsyndromic deafness 96" NARROW [OMIM:614414] synonym: "autosomal recessive nonsyndromic deafness type 96" NARROW [DOID:0110538, MONDORULE:2] synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical, OMIM:614414, OMIM:genemap2] synonym: "DFNB96" NARROW ABBREVIATION [DOID:0110538, MONDO:Lexical, OMIM:614414] xref: DOID:0110538 {source="MONDO:equivalentTo"} +xref: GARD:22642 {source="OMIM:614414"} xref: ICD10CM:H90.3 {source="DOID:0110538"} xref: OMIM:614414 {source="DOID:0110538", source="MONDO:equivalentTo"} xref: UMLS:C3147085 {source="OMIM:614414", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -274248,11 +281902,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013739 name: chilblain lupus 2 def: "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18494"} synonym: "CHBL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614415] synonym: "chilblain lupus 2" EXACT [MONDO:Lexical, OMIM:614415] synonym: "chilblain lupus caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1, OMIM:614415] synonym: "SAMHD1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18494 {source="OMIM:614415"} xref: OMIM:614415 {source="MONDO:equivalentTo"} xref: Orphanet:90280 {source="OMIM:614415"} xref: UMLS:C3280721 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614415"} @@ -274267,10 +281923,12 @@ property_value: confidence "1.6984126984126982" xsd:double id: MONDO:0013740 name: lethal occipital encephalocele-skeletal dysplasia syndrome def: "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." [Orphanet:293925] +subset: gard_rare {source="GARD:17348"} subset: ordo_malformation_syndrome {source="Orphanet:293925"} synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [OMIM:614416, OMIM:genemap2] synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416] synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614416] +xref: GARD:17348 {source="Orphanet:293925"} xref: ICD10CM:Q87.5 {source="Orphanet:293925/attributed", source="Orphanet:293925/ntbt", source="Orphanet:293925"} xref: OMIM:614416 {source="Orphanet:293925", source="MONDO:equivalentTo", source="Orphanet:293925/e"} xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"} @@ -274286,11 +281944,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013741 name: familial temporal lobe epilepsy 5 def: "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13." [DOID:0060752, PMID:21922598] +subset: gard_rare {source="GARD:18280"} synonym: "epilepsy, familial temporal lobe, 5" RELATED [MONDO:Lexical, OMIM:614417] synonym: "epilepsy, familial temporal lobe, type 5" EXACT [MONDORULE:1, OMIM:614417] synonym: "ETL5" EXACT ABBREVIATION [DOID:0060752, MONDO:Lexical, OMIM:614417] synonym: "familial temporal lobe epilepsy type 5" EXACT [DOID:0060752, MONDORULE:1] xref: DOID:0060752 {source="MONDO:equivalentTo"} +xref: GARD:18280 {source="OMIM:614417"} xref: OMIM:614417 {source="DOID:0060752", source="MONDO:equivalentTo"} xref: Orphanet:163717 {source="DOID:0060752"} xref: Orphanet:165805 {source="OMIM:614417"} @@ -274302,9 +281962,11 @@ property_value: confidence "0.26984126984127" xsd:double [Term] id: MONDO:0013742 name: obsolete familial mesial temporal lobe epilepsy with febrile seizures +subset: gard_rare {source="GARD:17011"} synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418] +xref: GARD:17011 {source="MONDO:obsoleteEquivalent", source="Orphanet:165805"} xref: Orphanet:165805 {source="MONDO:obsoleteEquivalent"} property_value: confidence "0.26984126984127" xsd:double property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -274318,6 +281980,7 @@ id: MONDO:0013743 name: autosomal systemic lupus erythematosus type 16 def: "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." [MONDO:patterns/hereditary] comment: Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 +subset: gard_rare {source="GARD:17368"} subset: ordo_disease {source="Orphanet:300345"} synonym: "autosomal SLE" BROAD [Orphanet:300345] synonym: "familial SLE" BROAD [Orphanet:300345] @@ -274325,6 +281988,7 @@ synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345] synonym: "SLEB16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614420] synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420] synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420] +xref: GARD:17368 {source="Orphanet:300345"} xref: ICD10CM:M32.8 {source="Orphanet:300345", source="Orphanet:300345/attributed", source="Orphanet:300345/ntbt"} xref: OMIM:614420 {source="Orphanet:300345", source="MONDO:equivalentTo", source="Orphanet:300345/e"} xref: Orphanet:300345 {source="OMIM:614420", source="MONDO:equivalentTo"} @@ -274338,6 +282002,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0013744 name: cataract 37 def: "A cataract that has material basis in variation in the region 12q24.2-q24.3." [DOID:0110252, PMID:21731060] +subset: gard_rare {source="GARD:15800"} synonym: "cataract 37" EXACT [MONDO:Lexical, OMIM:614422] synonym: "cataract 37, autosomal dominant" EXACT [OMIM:614422, OMIM:genemap2] synonym: "cataract type 37" EXACT [DOID:0110252, MONDORULE:2] @@ -274346,6 +282011,7 @@ synonym: "CCA5" NARROW ABBREVIATION [DOID:0110252] synonym: "congenital cataract cerulean type 5" NARROW [DOID:0110252] synonym: "CTRCT37" EXACT ABBREVIATION [DOID:0110252, MONDO:Lexical, OMIM:614422] xref: DOID:0110252 {source="MONDO:equivalentTo"} +xref: GARD:15800 {source="OMIM:614422"} xref: ICD10CM:Q12.0 {source="DOID:0110252"} xref: OMIM:614422 {source="MONDO:equivalentTo", source="DOID:0110252"} xref: Orphanet:217052 {source="OMIM:614422"} @@ -274362,12 +282028,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013745 name: Joubert syndrome 14 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15801"} synonym: "JBTS14" EXACT ABBREVIATION [DOID:0110983, MONDO:Lexical, OMIM:614424] synonym: "Joubert syndrome 14" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614424] synonym: "Joubert syndrome caused by mutation in TMEM237" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 14" EXACT [DOID:0110983, MONDORULE:2, OMIM:614424] synonym: "TMEM237 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110983 {source="MONDO:equivalentTo"} +xref: GARD:15801 {source="OMIM:614424"} xref: OMIM:614424 {source="MONDO:equivalentTo", source="DOID:0110983"} xref: Orphanet:220493 {source="OMIM:614424"} xref: Orphanet:220497 {source="OMIM:614424", source="MONDO:directSiblingOf"} @@ -274480,6 +282148,7 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0013751 name: cutis laxa, autosomal dominant 2 def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15802"} synonym: "ADCL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614434] synonym: "autosomal dominant cutis laxa 2" EXACT [DOID:0070136] synonym: "autosomal dominant cutis laxa caused by mutation in FBLN5" EXACT [MONDO:design_pattern] @@ -274487,6 +282156,7 @@ synonym: "cutis laxa, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614434] synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614434] synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070136 {source="MONDO:equivalentTo"} +xref: GARD:15802 {source="OMIM:614434"} xref: OMIM:614434 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="OMIM:614434"} xref: UMLS:C3280794 {source="OMIM:614434", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -274502,11 +282172,13 @@ property_value: confidence "29.99999999999996" xsd:double id: MONDO:0013752 name: hypoplastic left heart syndrome 2 def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15803"} synonym: "HLHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614435] synonym: "hypoplastic left heart syndrome 2" EXACT [MONDO:Lexical, OMIM:614435] synonym: "hypoplastic left heart syndrome caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1, OMIM:614435] synonym: "NKX2-5 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15803 {source="OMIM:614435"} xref: ICD10CM:Q23.4 {source="Orphanet:2248"} xref: MedDRA:10021076 {source="Orphanet:2248"} xref: MESH:D018636 {source="Orphanet:2248"} @@ -274523,7 +282195,7 @@ property_value: confidence "3.8000000000000007" xsd:double id: MONDO:0013753 name: Charcot-Marie-Tooth disease axonal type 2P def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:9195", source="GARD:12435"} subset: ordo_disease {source="Orphanet:99941", source="Orphanet:300319"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2G" EXACT [MONDO:0012070] synonym: "Charcot Marie Tooth disease type 2G" RELATED [GARD:0009195] @@ -274544,6 +282216,8 @@ synonym: "CMT2G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608591, Orphanet:9994 synonym: "CMT2P" EXACT ABBREVIATION [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319] synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110169 {source="MONDO:equivalentTo"} +xref: GARD:12435 {source="Orphanet:300319"} +xref: GARD:9195 {source="Orphanet:99941"} xref: ICD10CM:G60.0 {source="Orphanet:99941/attributed", source="Orphanet:99941/ntbt", source="Orphanet:99941", source="Orphanet:300319/attributed", source="Orphanet:300319/ntbt", source="Orphanet:300319", source="DOID:0110169"} xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentObsolete", source="Orphanet:99941/e"} xref: OMIM:614436 {source="Orphanet:300319/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:300319", source="DOID:0110169"} @@ -274564,10 +282238,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12435/charco id: MONDO:0013754 name: cutis laxa, autosomal recessive, type 1B def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." [DOID:0070133] +subset: gard_rare {source="GARD:15804"} synonym: "ARCL1B" EXACT ABBREVIATION [DOID:0070133, MONDO:Lexical, OMIM:614437] synonym: "autosomal recessive cutis laxa type IB" RELATED [DOID:0070133] synonym: "cutis laxa, autosomal recessive, type IB" RELATED [MONDO:Lexical, OMIM:614437] xref: DOID:0070133 {source="MONDO:equivalentTo"} +xref: GARD:15804 {source="OMIM:614437"} xref: ICD10CM:Q82.8 {source="DOID:0070133"} xref: OMIM:614437 {source="DOID:0070133", source="MONDO:equivalentTo"} xref: Orphanet:90349 {source="OMIM:614437"} @@ -274584,6 +282260,7 @@ property_value: confidence "63.33333333333324" xsd:double id: MONDO:0013755 name: PYCR1-related de Barsy syndrome def: "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17340"} subset: ordo_etiological_subtype {source="Orphanet:293633"} synonym: "ARCL3B" EXACT ABBREVIATION [DOID:0070138, MONDO:Lexical, OMIM:614438] synonym: "autosomal recessive cutis laxa type IIIB" RELATED [DOID:0070138] @@ -274595,6 +282272,7 @@ synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/d synonym: "PYCR1 deficiency" EXACT [Orphanet:293633] synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633] xref: DOID:0070138 {source="MONDO:equivalentTo"} +xref: GARD:17340 {source="Orphanet:293633"} xref: ICD10CM:Q82.8 {source="DOID:0070138"} xref: ICD10CM:Q87.8 {source="Orphanet:293633/attributed", source="Orphanet:293633/ntbt", source="Orphanet:293633"} xref: OMIM:614438 {source="Orphanet:293633/e", source="MONDO:equivalentTo", source="DOID:0070138", source="Orphanet:293633"} @@ -274612,6 +282290,7 @@ property_value: confidence "8.333333333333332" xsd:double id: MONDO:0013756 name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2 def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15805"} synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 2" EXACT [OMIM:614441, OMIM:genemap2] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:614441] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:614441] @@ -274620,6 +282299,7 @@ synonym: "PDP, autosomal recessive" RELATED [OMIM:614441] synonym: "PHOAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614441] synonym: "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" EXACT [MONDO:design_pattern] synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15805 {source="OMIM:614441"} xref: OMIM:614441 {source="MONDO:equivalentTo"} xref: Orphanet:2796 {source="OMIM:614441"} xref: UMLS:C3280800 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614441"} @@ -274661,6 +282341,7 @@ id: MONDO:0013758 name: Charcot-Marie-Tooth disease dominant intermediate E def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." [Orphanet:93114] comment: Not in the OMIM series. {source="OMIM:614455"} +subset: gard_rare {source="GARD:12011"} subset: ordo_disease {source="Orphanet:93114"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205] synonym: "Charcot-Marie-Tooth disease - nephropathy" RELATED [GARD:0012011] @@ -274672,6 +282353,7 @@ synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [DOID:0110205, synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [DOID:0110205, OMIM:614455] synonym: "CMTDIE" EXACT ABBREVIATION [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114] xref: DOID:0110205 {source="MONDO:equivalentTo"} +xref: GARD:12011 {source="Orphanet:93114"} xref: ICD10CM:G60.0 {source="DOID:0110205", source="Orphanet:93114", source="Orphanet:93114/attributed", source="Orphanet:93114/ntbt"} xref: OMIM:614455 {source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114", source="Orphanet:93114/e"} xref: Orphanet:93114 {source="DOID:0110205", source="OMIM:614455", source="MONDO:equivalentTo"} @@ -274686,6 +282368,7 @@ property_value: confidence "15.666666666666679" xsd:double id: MONDO:0013759 name: melanoma, cutaneous malignant, susceptibility to, 8 def: "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." [Orphanet:293822] +subset: gard_rare {source="GARD:17343"} subset: ordo_disease {source="Orphanet:293822"} subset: predisposition synonym: "CMM8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614456] @@ -274694,6 +282377,7 @@ synonym: "melanoma, cutaneous malignant, susceptibility to, 8" EXACT [MONDO:Lexi synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456] synonym: "MITF-related melanoma and renal cell carcinoma predisposition syndrome" EXACT [Orphanet:293822] synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456] +xref: GARD:17343 {source="Orphanet:293822"} xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", source="Orphanet:293822"} xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"} xref: UMLS:C3152204 {source="OMIM:614456", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -274710,11 +282394,13 @@ property_value: confidence "1.6325000000000003" xsd:double [Term] id: MONDO:0013760 name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome +subset: gard_rare {source="GARD:17515"} subset: ordo_disease {source="Orphanet:352333"} synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" EXACT [Orphanet:352333] synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical, OMIM:614457] synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] +xref: GARD:17515 {source="Orphanet:352333"} xref: ICD10CM:Q80.8 {source="Orphanet:352333/attributed", source="Orphanet:352333/ntbt", source="Orphanet:352333"} xref: OMIM:614457 {source="Orphanet:352333", source="MONDO:equivalentTo", source="Orphanet:352333/e"} xref: Orphanet:352333 {source="OMIM:614457", source="MONDO:equivalentTo"} @@ -274729,11 +282415,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013761 name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency +subset: gard_rare {source="GARD:13571"} subset: ordo_disease {source="Orphanet:293955"} synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT CLINGEN_PREFERRED [] synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458] synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458] synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614458] +xref: GARD:13571 {source="Orphanet:293955"} xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", source="Orphanet:293955"} xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"} xref: UMLS:C3280866 {source="OMIM:614458", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -274745,12 +282433,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013762 name: lipoic acid synthetase deficiency def: "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency] -subset: gard_rare {source="GARD:0012678"} +subset: gard_rare {source="GARD:12678"} subset: ordo_disease {source="Orphanet:401859"} synonym: "HGCLAS" RELATED ABBREVIATION [OMIM:614462] synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462] synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614462] synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462] +xref: GARD:12678 {source="Orphanet:401859"} xref: ICD10CM:E88.8 {source="Orphanet:401859", source="Orphanet:401859/attributed", source="Orphanet:401859/ntbt"} xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="Orphanet:401859/e"} xref: Orphanet:401859 {source="MONDO:equivalentTo", source="OMIM:614462"} @@ -274766,6 +282455,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12678/lipoic id: MONDO:0013763 name: Joubert syndrome 15 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15806"} synonym: "CEP41 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS15" EXACT ABBREVIATION [DOID:0110984, MONDO:Lexical, OMIM:614464] synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:614464] @@ -274774,6 +282464,7 @@ synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:614464] synonym: "Joubert syndrome caused by mutation in CEP41" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 15" EXACT [DOID:0110984, MONDORULE:2, OMIM:614464] xref: DOID:0110984 {source="MONDO:equivalentTo"} +xref: GARD:15806 {source="OMIM:614464"} xref: OMIM:614464 {source="DOID:0110984", source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="OMIM:614464"} xref: Orphanet:475 {source="OMIM:614464"} @@ -274791,12 +282482,14 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0013764 name: Joubert syndrome 16 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15807"} synonym: "JBTS16" EXACT ABBREVIATION [DOID:0110985, MONDO:Lexical, OMIM:614465] synonym: "Joubert syndrome 16" EXACT [MONDO:Lexical, OMIM:614465] synonym: "Joubert syndrome caused by mutation in TMEM138" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 16" EXACT [DOID:0110985, MONDORULE:2, OMIM:614465] synonym: "TMEM138 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110985 {source="MONDO:equivalentTo"} +xref: GARD:15807 {source="OMIM:614465"} xref: OMIM:614465 {source="DOID:0110985", source="MONDO:equivalentTo"} xref: Orphanet:2318 {source="OMIM:614465"} xref: UMLS:C3280906 {source="OMIM:614465", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -274830,6 +282523,7 @@ property_value: confidence "2.5555555555555554" xsd:double id: MONDO:0013766 name: familial cold autoinflammatory syndrome 3 def: "A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease." [Orphanet:300359] +subset: gard_rare {source="GARD:17369"} subset: ordo_disease {source="Orphanet:300359"} synonym: "antibody deficiency and immune dysregulation, PLCG2-associated" RELATED [OMIM:614468] synonym: "FACU" EXACT ABBREVIATION [Orphanet:300359] @@ -274843,6 +282537,7 @@ synonym: "plaid" EXACT [Orphanet:300359] synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359] xref: DOID:0090064 {source="MONDO:equivalentTo"} +xref: GARD:17369 {source="Orphanet:300359"} xref: ICD10CM:L50.2 {source="DOID:0090064", source="Orphanet:300359", source="Orphanet:300359/attributed", source="Orphanet:300359/ntbt"} xref: OMIM:614468 {source="DOID:0090064", source="MONDO:equivalentTo", source="Orphanet:300359", source="Orphanet:300359/e"} xref: Orphanet:300359 {source="DOID:0090064", source="OMIM:614468", source="MONDO:equivalentTo"} @@ -274860,6 +282555,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013767 name: autoimmune lymphoproliferative syndrome type 4 def: "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." [Orphanet:268114] +subset: gard_rare {source="GARD:17262"} subset: ordo_disease {source="Orphanet:268114"} synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114] synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114] @@ -274874,6 +282570,7 @@ synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110 synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470] synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [OMIM:614470, OMIM:genemap2] xref: DOID:0110117 {source="MONDO:equivalentTo"} +xref: GARD:17262 {source="Orphanet:268114"} xref: ICD10CM:D72.8 {source="Orphanet:268114/attributed", source="Orphanet:268114/ntbt", source="DOID:0110117", source="Orphanet:268114"} xref: OMIM:614470 {source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo", source="Orphanet:268114/e"} xref: Orphanet:268114 {source="DOID:0110117", source="MONDO:equivalentTo", source="OMIM:614470"} @@ -274948,11 +282645,13 @@ property_value: confidence "4.000000000000001" xsd:double [Term] id: MONDO:0013771 name: transient infantile hypertriglyceridemia and hepatosteatosis +subset: gard_rare {source="GARD:17363"} subset: ordo_disease {source="Orphanet:300293"} synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614480] synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480] synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293] synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:17363 {source="Orphanet:300293"} xref: OMIM:614480 {source="Orphanet:300293/e", source="MONDO:equivalentTo", source="Orphanet:300293"} xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"} xref: UMLS:C3280953 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614480"} @@ -274968,12 +282667,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013772 name: Huppke-Brendel syndrome +subset: gard_rare {source="GARD:17365"} subset: ordo_disease {source="Orphanet:300313"} synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614482] synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313] synonym: "congenital cataracts, hearing loss, and neurodegeneration" EXACT [MONDO:Lexical, OMIM:614482] synonym: "Huppke-Brendel syndrome" EXACT [OMIM:614482] synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313] +xref: GARD:17365 {source="Orphanet:300313"} xref: OMIM:614482 {source="Orphanet:300313", source="MONDO:equivalentTo", source="Orphanet:300313/e"} xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"} xref: UMLS:C3280965 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614482"} @@ -274988,6 +282689,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013773 name: porencephaly 2 def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15808"} synonym: "brain small vessel disease 2" EXACT [OMIM:614483, OMIM:genemap2] synonym: "COL4A2 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "POREN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614483] @@ -274995,6 +282697,7 @@ synonym: "porencephaly 2" EXACT [MONDO:Lexical, OMIM:614483] synonym: "porencephaly caused by mutation in COL4A2" EXACT [MONDO:design_pattern] synonym: "porencephaly type 2" EXACT [MONDORULE:1, OMIM:614483] xref: DOID:0112314 {source="MONDO:equivalentTo"} +xref: GARD:15808 {source="OMIM:614483"} xref: OMIM:614483 {source="MONDO:equivalentTo"} xref: Orphanet:2940 {source="OMIM:614483"} xref: Orphanet:99810 {source="OMIM:614483"} @@ -275010,12 +282713,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013774 name: trigonocephaly 2 def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18559"} synonym: "craniosynostosis, metopic" RELATED [OMIM:614485] synonym: "FREM1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated trigonocephaly caused by mutation in FREM1" EXACT [MONDO:design_pattern] synonym: "TRIGNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614485] synonym: "trigonocephaly 2" EXACT [MONDO:Lexical, OMIM:614485] synonym: "trigonocephaly type 2" EXACT [MONDORULE:1, OMIM:614485] +xref: GARD:18559 {source="OMIM:614485"} xref: OMIM:614485 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="OMIM:614485"} xref: UMLS:C3280974 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614485"} @@ -275029,6 +282734,7 @@ property_value: confidence "39.49999999999994" xsd:double [Term] id: MONDO:0013775 name: thrombomodulin-related bleeding disorder +subset: gard_rare {source="GARD:17726"} subset: ordo_disease {source="Orphanet:436169"} synonym: "THBD-related bleeding disorder" EXACT [Orphanet:436169] synonym: "THBD-related coagulopathy" EXACT [Orphanet:436169] @@ -275037,6 +282743,7 @@ synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169] synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [OMIM:614486, OMIM:genemap2] synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486] xref: DOID:0111908 {source="MONDO:equivalentTo"} +xref: GARD:17726 {source="Orphanet:436169"} xref: ICD10CM:D68.3 {source="Orphanet:436169/attributed", source="Orphanet:436169/ntbt", source="Orphanet:436169"} xref: MESH:C566057 {source="MONDO:equivalentTo"} xref: OMIM:614486 {source="Orphanet:436169/e", source="MONDO:equivalentTo", source="Orphanet:436169"} @@ -275054,6 +282761,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013776 name: spastic ataxia 5 def: "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." [Orphanet:313772] +subset: gard_rare {source="GARD:17409"} subset: ordo_disease {source="Orphanet:313772"} synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772] @@ -275065,6 +282773,7 @@ synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:61 synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1] synonym: "SPAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614487, Orphanet:313772] xref: DOID:0050944 {source="MONDO:equivalentTo"} +xref: GARD:17409 {source="Orphanet:313772"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:313772/attributed", source="Orphanet:313772/ntbt", source="Orphanet:313772"} xref: OMIM:614487 {source="Orphanet:313772/e", source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772"} xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"} @@ -275081,12 +282790,14 @@ property_value: confidence "2.25" xsd:double id: MONDO:0013777 name: pseudohypoaldosteronism type 2B def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16776"} subset: ordo_etiological_subtype {source="Orphanet:88939"} synonym: "PHA2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614491, Orphanet:88939] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491] synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491] synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16776 {source="Orphanet:88939"} xref: ICD10CM:I15.1 {source="Orphanet:88939", source="Orphanet:88939/attributed", source="Orphanet:88939/ntbt"} xref: MESH:C564161 {source="MONDO:equivalentTo"} xref: OMIM:614491 {source="Orphanet:88939/e", source="MONDO:equivalentTo", source="Orphanet:88939"} @@ -275103,12 +282814,14 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0013778 name: pseudohypoaldosteronism type 2C def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16777"} subset: ordo_etiological_subtype {source="Orphanet:88940"} synonym: "PHA2C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614492, Orphanet:88940] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492] synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492] synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16777 {source="Orphanet:88940"} xref: ICD10CM:I15.1 {source="Orphanet:88940", source="Orphanet:88940/attributed", source="Orphanet:88940/ntbt"} xref: MESH:C564162 {source="MONDO:equivalentTo"} xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="Orphanet:88940/e"} @@ -275125,12 +282838,14 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0013779 name: Wiskott-Aldrich syndrome 2 def: "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15809"} synonym: "WAS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614493] synonym: "Wipf1 deficiency" RELATED [OMIM:614493] synonym: "WIPF1 Wiskott-Aldrich syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, OMIM:614493] synonym: "Wiskott-Aldrich syndrome caused by mutation in WIPF1" EXACT [MONDO:design_pattern] synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1, OMIM:614493] +xref: GARD:15809 {source="OMIM:614493"} xref: NCIT:C176820 {source="MONDO:equivalentTo"} xref: OMIM:277970 {source="MONDO:equivalentObsolete"} xref: OMIM:614493 {source="MONDO:equivalentTo"} @@ -275144,10 +282859,12 @@ property_value: confidence "1.5846363636363643" xsd:double id: MONDO:0013780 name: retinitis pigmentosa 63 def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." [DOID:0110385, PMID:22083234] +subset: gard_rare {source="GARD:15810"} synonym: "retinitis pigmentosa 63" EXACT [MONDO:Lexical, OMIM:614494] synonym: "retinitis pigmentosa type 63" EXACT [DOID:0110385, MONDORULE:2] synonym: "RP63" EXACT ABBREVIATION [DOID:0110385, MONDO:Lexical, OMIM:614494] xref: DOID:0110385 {source="MONDO:equivalentTo"} +xref: GARD:15810 {source="OMIM:614494"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110385"} xref: OMIM:614494 {source="MONDO:equivalentTo", source="DOID:0110385"} xref: Orphanet:791 {source="OMIM:614494"} @@ -275158,6 +282875,7 @@ is_a: MONDO:0019200 {source="DC-OMIM:614494", source="DOID:0110385", source="OMI id: MONDO:0013781 name: pseudohypoaldosteronism type 2D def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17372"} subset: ordo_etiological_subtype {source="Orphanet:300525"} synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495] synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -275165,6 +282883,7 @@ synonym: "PHA2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614495, Orphanet:300525 synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] +xref: GARD:17372 {source="Orphanet:300525"} xref: ICD10CM:I15.1 {source="Orphanet:300525", source="Orphanet:300525/attributed", source="Orphanet:300525/ntbt"} xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="Orphanet:300525/e"} xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"} @@ -275180,6 +282899,7 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0013782 name: pseudohypoaldosteronism type 2E def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17373"} subset: ordo_etiological_subtype {source="Orphanet:300530"} synonym: "CUL3 pseudohypoaldosteronism type 2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Cul3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] @@ -275188,6 +282908,7 @@ synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT [] synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] +xref: GARD:17373 {source="Orphanet:300530"} xref: ICD10CM:I15.1 {source="Orphanet:300530", source="Orphanet:300530/attributed", source="Orphanet:300530/ntbt"} xref: OMIM:614496 {source="Orphanet:300530", source="MONDO:equivalentTo", source="Orphanet:300530/e"} xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"} @@ -275203,11 +282924,13 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0013783 name: microphthalmia, isolated, with coloboma 7 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15811"} synonym: "ABCB6 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCOPCB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614497] synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical, OMIM:614497] synonym: "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OMIM:614497] +xref: GARD:15811 {source="OMIM:614497"} xref: OMIM:614497 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:614497"} xref: UMLS:C3281027 {source="OMIM:614497", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -275220,6 +282943,7 @@ property_value: confidence "0.8448594714285722" xsd:double [Term] id: MONDO:0013784 name: neonatal-onset encephalopathy with rigidity and seizures +subset: gard_rare {source="GARD:17718"} subset: ordo_malformation_syndrome {source="Orphanet:435845"} synonym: "lethal neonatal rigidity-multifocal seizure syndrome" EXACT [Orphanet:435845] synonym: "lethal neonatal spasticity-epileptic encephalopathy syndrome" EXACT [Orphanet:435845] @@ -275227,6 +282951,7 @@ synonym: "neonatal-onset encephalopathy with rigidity and seizures" EXACT CLINGE synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498] synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614498] xref: EFO:0009144 {source="MONDO:equivalentTo"} +xref: GARD:17718 {source="Orphanet:435845"} xref: ICD10CM:G40.4 {source="Orphanet:435845/attributed", source="Orphanet:435845/ntbt", source="Orphanet:435845"} xref: OMIM:614498 {source="Orphanet:435845", source="MONDO:equivalentTo", source="Orphanet:435845/e"} xref: Orphanet:435845 {source="MONDO:equivalentTo"} @@ -275241,6 +282966,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013785 name: intellectual disability, autosomal recessive 34 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22563"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" EXACT [MONDO:design_pattern] synonym: "CRADD autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" EXACT [OMIM:614499, OMIM:genemap2] @@ -275252,6 +282978,7 @@ synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly synonym: "mental retardation, autosomal recessive type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:614499] synonym: "MRT34" RELATED DEPRECATED [MONDO:Lexical, OMIM:614499] xref: DOID:0081200 {source="MONDO:equivalentTo"} +xref: GARD:22563 {source="OMIM:614499"} xref: NCIT:C153179 {source="MONDO:equivalentTo"} xref: OMIM:614499 {source="MONDO:equivalentTo"} xref: UMLS:C3281044 {source="OMIM:614499", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -275266,6 +282993,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013786 name: cone-rod dystrophy 16 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15812"} synonym: "C8orf37 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 16" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614500] synonym: "cone-rod dystrophy caused by mutation in C8orf37" EXACT [MONDO:design_pattern] @@ -275274,6 +283002,7 @@ synonym: "CORD16" EXACT ABBREVIATION [DOID:0111022, MONDO:Lexical, OMIM:614500] synonym: "retinal dystrophy with early macular involvement" EXACT [DOID:0111022] synonym: "retinitis pigmentosa 64" RELATED [OMIM:614500] xref: DOID:0111022 {source="MONDO:equivalentTo"} +xref: GARD:15812 {source="OMIM:614500"} xref: OMIM:614500 {source="MONDO:equivalentTo", source="DOID:0111022"} xref: UMLS:C3281045 {source="OMIM:614500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3281046 {source="OMIM:614500", source="MONDO:notFoundInDiseaseSubset"} @@ -275299,6 +283028,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013788 name: Usher syndrome type 3B def: "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15813"} synonym: "HARS Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "USH3B" EXACT ABBREVIATION [DOID:0110842, MONDO:Lexical, OMIM:614504] synonym: "Usher syndrome caused by mutation in HARS" EXACT [MONDO:design_pattern] @@ -275306,6 +283036,7 @@ synonym: "Usher syndrome type IIIB" EXACT [DOID:0110842] synonym: "Usher syndrome, type 3B" RELATED [OMIM:614504] synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical, OMIM:614504] xref: DOID:0110842 {source="MONDO:equivalentTo"} +xref: GARD:15813 {source="OMIM:614504"} xref: ICD10CM:H35.5 {source="DOID:0110842", source="MONDO:relatedTo"} xref: OMIM:614504 {source="DOID:0110842", source="MONDO:equivalentTo"} xref: Orphanet:231183 {source="OMIM:614504"} @@ -275323,6 +283054,7 @@ property_value: confidence "2.4444444444444438" xsd:double id: MONDO:0013789 name: DDOST-congenital disorder of glycosylation def: "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." [Orphanet:300536] +subset: gard_rare {source="GARD:12398"} subset: ordo_disease {source="Orphanet:300536"} synonym: "carbohydrate deficient glycoprotein syndrome type" RELATED [GARD:0012398] synonym: "carbohydrate deficient glycoprotein syndrome type Ir" EXACT [Orphanet:300536] @@ -275336,6 +283068,7 @@ synonym: "DDOST-CDG" EXACT ABBREVIATION [Orphanet:300536] synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398] synonym: "DDOST-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080569 {source="MONDO:equivalentTo"} +xref: GARD:12398 {source="Orphanet:300536"} xref: ICD10CM:E77.8 {source="Orphanet:300536", source="Orphanet:300536/attributed", source="Orphanet:300536/ntbt"} xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="Orphanet:300536/e"} xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"} @@ -275354,11 +283087,13 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0013790 name: mirror movements 2 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15814"} synonym: "familial congenital mirror movements caused by mutation in RAD51" EXACT [MONDO:design_pattern] synonym: "mirror movements 2" EXACT [MONDO:Lexical, OMIM:614508] synonym: "mirror movements type 2" EXACT [MONDORULE:1, OMIM:614508] synonym: "MRMV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614508] synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15814 {source="OMIM:614508"} xref: OMIM:614508 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="OMIM:614508"} xref: UMLS:C3281089 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614508"} @@ -275371,10 +283106,12 @@ property_value: confidence "29.333333333333442" xsd:double [Term] id: MONDO:0013791 name: thrombophilia due to protein S deficiency, autosomal recessive +subset: gard_rare {source="GARD:18569"} synonym: "THPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614514] synonym: "thrombophilia 5 due to protein S deficiency, autosomal recessive" EXACT [OMIM:614514, OMIM:genemap2] synonym: "thrombophilia due to PROTEIN S deficiency, autosomal recessive" RELATED [OMIM:614514] synonym: "thrombophilia due to protein S deficiency, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614514] +xref: GARD:18569 {source="OMIM:614514"} xref: OMIM:614514 {source="MONDO:equivalentTo"} xref: Orphanet:743 {source="OMIM:614514"} xref: UMLS:C3281092 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614514"} @@ -275439,12 +283176,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013795 name: fibrochondrogenesis 2 def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15815"} synonym: "COL11A2 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FBCG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614524] synonym: "fibrochondrogenesis 2" EXACT [MONDO:Lexical, OMIM:614524] synonym: "fibrochondrogenesis caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1, OMIM:614524] xref: DOID:0080673 {source="MONDO:equivalentTo"} +xref: GARD:15815 {source="OMIM:614524"} xref: OMIM:614524 {source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="OMIM:614524"} xref: UMLS:C3281128 {source="OMIM:614524", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -275459,6 +283198,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013796 name: chromosome 17q12 duplication syndrome def: "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." [Orphanet:261272] +subset: gard_rare {source="GARD:13296"} subset: ordo_malformation_syndrome {source="Orphanet:261272"} synonym: "17q12 duplication" RELATED [GARD:0013296] synonym: "17q12 microduplication" RELATED [GARD:0013296] @@ -275468,6 +283208,7 @@ synonym: "dup(17)(q12)" EXACT [Orphanet:261272] synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296] synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272] xref: DOID:0060433 {source="MONDO:equivalentTo"} +xref: GARD:13296 {source="Orphanet:261272"} xref: OMIM:614526 {source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo", source="Orphanet:261272/e"} xref: Orphanet:261272 {source="DOID:0060433", source="MONDO:equivalentTo", source="OMIM:614526"} xref: SCTID:764435003 {source="MONDO:equivalentTo"} @@ -275483,6 +283224,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013797 name: chromosome 17q12 deletion syndrome def: "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." [Orphanet:261265] +subset: gard_rare {source="GARD:13297"} subset: ordo_malformation_syndrome {source="Orphanet:261265"} synonym: "17q12 deletion syndrome" RELATED [GARD:0013297] synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404] @@ -275491,6 +283233,7 @@ synonym: "chromosome 17q12 deletion syndrome" EXACT [OMIM:614527] synonym: "Del(17)(q12)" EXACT [Orphanet:261265] synonym: "monosomy 17q12" EXACT [Orphanet:261265] xref: DOID:0060404 {source="MONDO:equivalentTo"} +xref: GARD:13297 {source="Orphanet:261265"} xref: ICD10CM:Q93.5 {source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/attributed", source="Orphanet:261265/ntbt"} xref: OMIM:614527 {source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/e"} xref: Orphanet:261265 {source="MONDO:equivalentTo", source="DOID:0060404", source="OMIM:614527"} @@ -275537,6 +283280,7 @@ is_obsolete: true id: MONDO:0013800 name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type def: "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." [Orphanet:300179] +subset: gard_rare {source="GARD:17361"} subset: ordo_disease {source="Orphanet:300179"} synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179] synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179] @@ -275548,6 +283292,7 @@ synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" EXACT CLINGEN_PREFERRED [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" EXACT [OMIM:614557] +xref: GARD:17361 {source="Orphanet:300179"} xref: ICD10CM:Q79.6 {source="Orphanet:300179/attributed", source="Orphanet:300179/ntbt", source="Orphanet:300179"} xref: OMIM:614557 {source="Orphanet:300179", source="MONDO:equivalentTo", source="Orphanet:300179/e"} xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"} @@ -275563,6 +283308,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013801 name: developmental and epileptic encephalopathy, 13 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13085"} synonym: "DEE13" EXACT ABBREVIATION [OMIM:614558] synonym: "developmental and epileptic encephalopathy 13" EXACT [OMIM:614558, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] @@ -275574,6 +283320,7 @@ synonym: "SCN8A early infantile epileptic encephalopathy" EXACT [MONDO:design_pa synonym: "SCN8A encephalopathy" RELATED [GARD:0013085] synonym: "SCN8A epilepsy" RELATED [GARD:0013085] xref: DOID:0080445 {source="MONDO:equivalentTo"} +xref: GARD:13085 {source="OMIM:614558"} xref: OMIM:614558 {source="MONDO:equivalentTo"} xref: SCTID:765170001 {source="MONDO:equivalentTo"} xref: UMLS:C3281191 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614558"} @@ -275589,12 +283336,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013802 name: infantile cerebellar-retinal degeneration def: "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." [https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration] -subset: gard_rare {source="GARD:0013264"} +subset: gard_rare {source="GARD:13264"} subset: ordo_disease {source="Orphanet:313850"} synonym: "ICRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614559] synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264] synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559] xref: DOID:0050883 {source="MONDO:equivalentTo"} +xref: GARD:13264 {source="Orphanet:313850"} xref: ICD10CM:E88.8 {source="Orphanet:313850", source="Orphanet:313850/attributed", source="Orphanet:313850/ntbt"} xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="Orphanet:313850/e"} xref: Orphanet:313850 {source="MONDO:equivalentTo", source="OMIM:614559"} @@ -275609,10 +283357,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13264/infant [Term] id: MONDO:0013803 name: leukoencephalopathy with calcifications and cysts +subset: gard_rare {source="GARD:10732"} subset: ordo_disease synonym: "Labrune syndrome" RELATED [OMIM:614561] synonym: "LCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614561] synonym: "leukoencephalopathy, brain calcifications, and cysts" EXACT [MONDO:Lexical, OMIM:614561] +xref: GARD:10732 {source="Orphanet:542310"} xref: MESH:C000598644 {source="MONDO:equivalentTo"} xref: OMIM:614561 {source="Orphanet:542310", source="MONDO:equivalentTo"} xref: Orphanet:542310 {source="MONDO:equivalentTo"} @@ -275633,6 +283383,7 @@ replaced_by: MONDO:0007617 id: MONDO:0013805 name: intellectual disability, autosomal dominant 13 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16462"} synonym: "autosomal dominant intellectual disability 13" EXACT [DOID:0070043] synonym: "autosomal dominant mental retardation 13" EXACT DEPRECATED [DOID:0070043] synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043] @@ -275648,6 +283399,7 @@ synonym: "mental retardation, autosomal dominant type 13" EXACT DEPRECATED [MOND synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED DEPRECATED [OMIM:614563] synonym: "MRD13" EXACT ABBREVIATION [DOID:0070043, MONDO:Lexical, OMIM:614563] xref: DOID:0070043 {source="MONDO:equivalentTo"} +xref: GARD:16462 {source="OMIM:614563"} xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:614563"} xref: UMLS:C3281202 {source="OMIM:614563", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -275661,12 +283413,14 @@ property_value: confidence "0.7021739130434781" xsd:double [Term] id: MONDO:0013806 name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +subset: gard_rare {source="GARD:17413"} subset: ordo_disease {source="Orphanet:313846"} synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical, OMIM:614564] synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [Orphanet:313846] synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT CLINGEN_PREFERRED [] synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614564] synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564] +xref: GARD:17413 {source="Orphanet:313846"} xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="Orphanet:313846/e"} xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"} xref: UMLS:C3281203 {source="OMIM:614564", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -275680,6 +283434,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013807 name: congenital stationary night blindness 1E def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15816"} synonym: "congenital stationary night blindness 1E" EXACT CLINGEN_PREFERRED [] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [DOID:0110869] synonym: "congenital stationary night blindness caused by mutation in GPR179" EXACT [MONDO:design_pattern] @@ -275690,6 +283445,7 @@ synonym: "GPR179 congenital stationary night blindness" EXACT [MONDO:design_patt synonym: "night blindness, congenital stationary (complete), 1E, autosomal recessive" EXACT [OMIM:614565, OMIM:genemap2] synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical, OMIM:614565] xref: DOID:0110869 {source="MONDO:equivalentTo"} +xref: GARD:15816 {source="OMIM:614565"} xref: OMIM:614565 {source="MONDO:equivalentTo", source="DOID:0110869"} xref: UMLS:C3281215 {source="OMIM:614565", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016293 {source="DC-OMIM:614565", source="DOID:0110869", source="MONDO:Redundant", source="OMIM:614565"} ! congenital stationary night blindness @@ -275705,7 +283461,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013808 name: Maffucci syndrome def: "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." [Orphanet:163634] -subset: gard_rare {source="GARD:0006958"} +subset: gard_rare {source="GARD:6958"} subset: ordo_disease {source="Orphanet:163634"} synonym: "chondrodysplasia with hemangioma" EXACT [NCIT:C3213] synonym: "Chondroplasia angiomatosis" EXACT [NCIT:C3213] @@ -275722,6 +283478,7 @@ synonym: "Maffucci's anomalad" EXACT [NCIT:C3213] synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958] synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569] xref: DOID:0060221 {source="MONDO:equivalentTo"} +xref: GARD:6958 {source="Orphanet:163634"} xref: ICD10CM:Q78.4 {source="DOID:0060221", source="Orphanet:163634/inclusion", source="Orphanet:163634", source="Orphanet:163634/ntbt"} xref: NCIT:C3213 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:614569 {source="Orphanet:163634/e", source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634"} @@ -275750,6 +283507,7 @@ replaced_by: MONDO:0044720 [Term] id: MONDO:0013810 name: COG6-ongenital disorder of glycosylation +subset: gard_rare {source="GARD:10944"} subset: ordo_disease {source="Orphanet:464443"} synonym: "CDG IIL" RELATED [OMIM:614576] synonym: "CDG syndrome type IIL" EXACT [Orphanet:464443] @@ -275763,6 +283521,7 @@ synonym: "congenital disorder of glycosylation type 2l" EXACT [Orphanet:464443] synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443] synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576] xref: DOID:0070264 {source="MONDO:equivalentTo"} +xref: GARD:10944 {source="Orphanet:464443"} xref: ICD10CM:E77.8 {source="Orphanet:464443", source="Orphanet:464443/attributed", source="Orphanet:464443/ntbt"} xref: OMIM:614576 {source="Orphanet:464443", source="MONDO:equivalentTo", source="Orphanet:464443/e"} xref: Orphanet:464443 {source="MONDO:equivalentTo"} @@ -275778,6 +283537,7 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0013811 name: combined oxidative phosphorylation defect type 9 def: "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." [Orphanet:319509] +subset: gard_rare {source="GARD:17453"} subset: ordo_disease {source="Orphanet:319509"} synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern] @@ -275785,6 +283545,7 @@ synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE synonym: "COXPD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614582, Orphanet:319509] synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111472 {source="MONDO:equivalentTo"} +xref: GARD:17453 {source="Orphanet:319509"} xref: OMIM:614582 {source="Orphanet:319509", source="MONDO:equivalentTo", source="Orphanet:319509/e"} xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"} xref: SCTID:763209008 {source="MONDO:equivalentTo"} @@ -275800,6 +283561,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013812 name: Baraitser-winter syndrome 2 def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15817"} synonym: "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1" EXACT [MONDO:design_pattern] synonym: "Baraitser-WINTER syndrome 2" RELATED [OMIM:614583] @@ -275807,6 +283569,7 @@ synonym: "Baraitser-winter syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, O synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1, OMIM:614583] synonym: "BRWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614583] xref: DOID:0081113 {source="MONDO:equivalentTo"} +xref: GARD:15817 {source="OMIM:614583"} xref: OMIM:614583 {source="MONDO:equivalentTo"} xref: Orphanet:2995 {source="OMIM:614583"} xref: UMLS:C3281235 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614583"} @@ -275820,12 +283583,14 @@ property_value: confidence "2.547008547008547" xsd:double id: MONDO:0013813 name: dystonia 21 def: "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." [Orphanet:306734] +subset: gard_rare {source="GARD:17383"} subset: ordo_disease {source="Orphanet:306734"} synonym: "dystonia 21" EXACT [MONDO:Lexical, OMIM:614588] synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2] synonym: "DYT21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614588, Orphanet:306734] synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734] xref: DOID:0090046 {source="MONDO:equivalentTo"} +xref: GARD:17383 {source="Orphanet:306734"} xref: ICD10CM:G24.1 {source="Orphanet:306734", source="Orphanet:306734/attributed", source="Orphanet:306734/ntbt", source="DOID:0090046"} xref: OMIM:614588 {source="Orphanet:306734", source="MONDO:equivalentTo", source="Orphanet:306734/e", source="DOID:0090046"} xref: Orphanet:306734 {source="OMIM:614588", source="MONDO:equivalentTo", source="DOID:0090046"} @@ -275852,12 +283617,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013815 name: bent bone dysplasia syndrome 1 +subset: gard_rare {source="GARD:10965"} subset: ordo_disease {source="Orphanet:313855"} synonym: "BBDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614592] synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965] synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592] synonym: "FGFR2-related bent bone dysplasia" EXACT [PMID:31633310] synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855] +xref: GARD:10965 {source="Orphanet:313855"} xref: OMIM:614592 {source="Orphanet:313855", source="MONDO:equivalentTo", source="Orphanet:313855/e"} xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"} xref: UMLS:C3281247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614592"} @@ -275879,6 +283646,7 @@ replaced_by: MONDO:0019014 id: MONDO:0013817 name: preeclampsia/eclampsia 5 def: "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18393"} synonym: "CORIN preeclampsia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Corin preeclampsia" EXACT [MONDO:design_pattern] synonym: "PEE5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614595] @@ -275887,6 +283655,7 @@ synonym: "preeclampsia caused by mutation in Corin" EXACT [MONDO:design_pattern] synonym: "PREECLAMPSIA/eclampsia 5" RELATED [OMIM:614595] synonym: "preeclampsia/eclampsia 5" EXACT [MONDO:Lexical, OMIM:614595] synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1, OMIM:614595] +xref: GARD:18393 {source="OMIM:614595"} xref: OMIM:614595 {source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="OMIM:614595"} xref: UMLS:C3281288 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614595"} @@ -275900,6 +283669,7 @@ property_value: confidence "2.071428571428571" xsd:double id: MONDO:0013818 name: trichohepatoenteric syndrome 2 def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15819"} synonym: "SKIV2L tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "THES2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614602] synonym: "tricho-hepato-enteric syndrome caused by mutation in SKIV2L" EXACT [MONDO:design_pattern] @@ -275907,6 +283677,7 @@ synonym: "TRICHOHEPATOENTERIC syndrome 2" RELATED [OMIM:614602] synonym: "Trichohepatoenteric syndrome 2" EXACT [MONDO:Lexical, OMIM:614602] synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1, OMIM:614602] xref: DOID:0111416 {source="MONDO:equivalentTo"} +xref: GARD:15819 {source="OMIM:614602"} xref: OMIM:614602 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:614602"} xref: UMLS:C3281289 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614602"} @@ -275920,6 +283691,7 @@ property_value: confidence "2.4105263157894736" xsd:double id: MONDO:0013819 name: intellectual disability, autosomal dominant 14 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15820"} synonym: "ARID1A Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ARID1A-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "autosomal dominant intellectual disability 14" EXACT [DOID:0070044] @@ -275934,6 +283706,7 @@ synonym: "mental retardation, autosomal dominant 14" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:614607] synonym: "MRD14" EXACT ABBREVIATION [DOID:0070044, MONDO:Lexical, OMIM:614607] xref: DOID:0070044 {source="MONDO:equivalentTo"} +xref: GARD:15820 {source="OMIM:614607"} xref: OMIM:614607 {source="DOID:0070044", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614607"} xref: UMLS:C3553247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614607"} @@ -275951,6 +283724,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013820 name: intellectual disability, autosomal dominant 15 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15821"} synonym: "autosomal dominant intellectual disability 15" EXACT [DOID:0070045] synonym: "autosomal dominant mental retardation 15" EXACT DEPRECATED [DOID:0070045] synonym: "COFFIN-SIRIS syndrome 3" EXACT [OMIM:614608] @@ -275964,6 +283738,7 @@ synonym: "MRD15" EXACT ABBREVIATION [DOID:0070045, MONDO:Lexical, OMIM:614608] synonym: "SMARCB1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCB1-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0070045 {source="MONDO:equivalentTo"} +xref: GARD:15821 {source="OMIM:614608"} xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614608"} xref: UMLS:C3553248 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614608"} @@ -275982,6 +283757,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013821 name: intellectual disability, autosomal dominant 16 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15822"} synonym: "autosomal dominant intellectual disability 16" EXACT [DOID:0070046] synonym: "autosomal dominant mental retardation 16" EXACT DEPRECATED [DOID:0070046] synonym: "COFFIN-SIRIS syndrome 4" EXACT [OMIM:614609] @@ -275995,6 +283771,7 @@ synonym: "MRD16" EXACT ABBREVIATION [DOID:0070046, MONDO:Lexical, OMIM:614609] synonym: "SMARCA4 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCA4-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0070046 {source="MONDO:equivalentTo"} +xref: GARD:15822 {source="OMIM:614609"} xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614609"} xref: UMLS:C3553249 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614609"} @@ -276013,11 +283790,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013822 name: acrodysostosis 2 with or without hormone resistance def: "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15823"} synonym: "ACRDYS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614613] synonym: "acrodysostosis 2 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:614613] synonym: "acrodysostosis 2, with or without hormone resistance" EXACT [OMIM:614613, OMIM:genemap2] synonym: "acrodysostosis caused by mutation in PDE4D" EXACT [MONDO:design_pattern] synonym: "PDE4D acrodysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15823 {source="OMIM:614613"} xref: OMIM:614613 {source="MONDO:equivalentTo"} xref: Orphanet:280651 {source="OMIM:614613"} xref: Orphanet:950 {source="OMIM:614613"} @@ -276035,6 +283814,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013823 name: autosomal dominant nonsyndromic hearing loss 4B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18136"} synonym: "autosomal dominant deafness 4B" NARROW [DOID:0110574] synonym: "autosomal dominant nonsyndromic deafness 4B" NARROW [OMIM:614614] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16" NARROW [MONDO:design_pattern] @@ -276045,6 +283825,7 @@ synonym: "deafness, autosomal dominant 4b" NARROW [OMIM:614614, OMIM:genemap2] synonym: "deafness, autosomal dominant type 4B" NARROW [MONDORULE:4, OMIM:614614] synonym: "DFNA4B" NARROW ABBREVIATION [DOID:0110574, MONDO:Lexical, OMIM:614614] xref: DOID:0110574 {source="MONDO:equivalentTo"} +xref: GARD:18136 {source="OMIM:614614"} xref: ICD10CM:H90.3 {source="DOID:0110574"} xref: OMIM:614614 {source="MONDO:equivalentTo", source="DOID:0110574"} xref: UMLS:C3281297 {source="MONDO:equivalentTo", source="OMIM:614614", source="MONDO:ncbi_mim2gene_medline"} @@ -276059,12 +283840,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013824 name: Joubert syndrome 17 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15824"} synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS17" EXACT ABBREVIATION [DOID:0110986, MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome 17" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615] xref: DOID:0110986 {source="MONDO:equivalentTo"} +xref: GARD:15824 {source="OMIM:614615"} xref: NCIT:C175702 {source="MONDO:equivalentTo"} xref: OMIM:614615 {source="DOID:0110986", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:614615"} @@ -276078,6 +283861,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013825 name: congenital diarrhea 6 def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17417"} subset: ordo_disease {source="Orphanet:314373"} synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780] synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 [] @@ -276093,6 +283877,7 @@ synonym: "diarrhoea type 6" EXACT OMO:0003005 [] synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GUCY2C congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060780 {source="MONDO:equivalentTo"} +xref: GARD:17417 {source="Orphanet:314373"} xref: ICD10CM:P78.3 {source="DOID:0060780", source="Orphanet:314373", source="Orphanet:314373/attributed", source="Orphanet:314373/ntbt"} xref: OMIM:614616 {source="Orphanet:314373/e", source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373"} xref: Orphanet:314373 {source="DOID:0060780", source="MONDO:equivalentTo", source="OMIM:614616"} @@ -276111,6 +283896,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013826 name: autosomal recessive nonsyndromic hearing loss 86 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22643"} synonym: "autosomal recessive deafness 86" NARROW [DOID:0110532] synonym: "autosomal recessive nonsyndromic deafness 86" NARROW [OMIM:614617] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] @@ -276120,6 +283906,7 @@ synonym: "deafness, autosomal recessive type 86" NARROW [MONDORULE:2, OMIM:61461 synonym: "DFNB86" NARROW ABBREVIATION [DOID:0110532, MONDO:Lexical, OMIM:614617] synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110532 {source="MONDO:equivalentTo"} +xref: GARD:22643 {source="OMIM:614617"} xref: ICD10CM:H90.3 {source="DOID:0110532"} xref: OMIM:614617 {source="MONDO:equivalentTo", source="DOID:0110532"} xref: Orphanet:90636 {source="OMIM:614617"} @@ -276135,12 +283922,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013827 name: hyperekplexia 3 def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15825"} synonym: "hereditary hyperekplexia caused by mutation in SLC6A5" EXACT [MONDO:design_pattern] synonym: "HKPX3" EXACT ABBREVIATION [DOID:0060698, MONDO:Lexical, OMIM:614618] synonym: "hyperekplexia 3" EXACT [MONDO:Lexical, OMIM:614618] synonym: "hyperekplexia type 3" EXACT [DOID:0060698, MONDORULE:1, OMIM:614618] synonym: "SLC6A5 hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060698 {source="MONDO:equivalentTo"} +xref: GARD:15825 {source="OMIM:614618"} xref: ICD10CM:G25.8 {source="DOID:0060698"} xref: OMIM:614618 {source="MONDO:equivalentTo", source="DOID:0060698"} xref: Orphanet:3197 {source="DOID:0060698", source="OMIM:614618"} @@ -276155,12 +283944,14 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013828 name: hyperekplexia 2 def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15826"} synonym: "GLRB hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary hyperekplexia caused by mutation in GLRB" EXACT [MONDO:design_pattern] synonym: "HKPX2" EXACT ABBREVIATION [DOID:0060697, MONDO:Lexical, OMIM:614619] synonym: "hyperekplexia 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614619] synonym: "hyperekplexia type 2" EXACT [DOID:0060697, MONDORULE:1, OMIM:614619] xref: DOID:0060697 {source="MONDO:equivalentTo"} +xref: GARD:15826 {source="OMIM:614619"} xref: ICD10CM:G25.8 {source="DOID:0060697"} xref: OMIM:614619 {source="DOID:0060697", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="DOID:0060697", source="OMIM:614619"} @@ -276175,11 +283966,13 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013829 name: UV-sensitive syndrome 2 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15827"} synonym: "ERCC8 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, OMIM:614621] synonym: "UV-sensitive syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1, OMIM:614621] synonym: "UVSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614621] +xref: GARD:15827 {source="OMIM:614621"} xref: NCIT:C173110 {source="MONDO:equivalentTo"} xref: OMIM:614621 {source="MONDO:equivalentTo"} xref: Orphanet:178338 {source="OMIM:614621"} @@ -276235,11 +284028,13 @@ is_a: MONDO:0015486 {source="DC-OMIM:614629", source="OMIM:614629"} ! keratoconu id: MONDO:0013834 name: UV-sensitive syndrome 3 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15828"} synonym: "UV-sensitive syndrome 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614640] synonym: "UV-sensitive syndrome caused by mutation in UVSSA" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1, OMIM:614640] synonym: "UVSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614640] synonym: "UVSSA UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15828 {source="OMIM:614640"} xref: NCIT:C173107 {source="MONDO:equivalentTo"} xref: OMIM:614640 {source="MONDO:equivalentTo"} xref: Orphanet:178338 {source="OMIM:614640"} @@ -276255,12 +284050,14 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013835 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15829"} synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [OMIM:614643] xref: DOID:0111234 {source="MONDO:equivalentTo"} +xref: GARD:15829 {source="OMIM:614643"} xref: OMIM:614643 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614643", source="MONDO:relatedTo"} xref: UMLS:C3553330 {source="OMIM:614643", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -276273,11 +284070,13 @@ property_value: confidence "0.5294117647058822" xsd:double [Term] id: MONDO:0013836 name: familial steroid-resistant nephrotic syndrome with sensorineural deafness +subset: gard_rare {source="GARD:17295"} subset: ordo_disease {source="Orphanet:280406"} synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:614650] synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650] synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614650] xref: DOID:0070243 {source="MONDO:equivalentTo"} +xref: GARD:17295 {source="Orphanet:280406"} xref: ICD10CM:N04.8 {source="Orphanet:280406/attributed", source="Orphanet:280406/ntbt", source="Orphanet:280406"} xref: OMIM:614650 {source="Orphanet:280406", source="MONDO:equivalentTo", source="Orphanet:280406/e"} xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"} @@ -276291,12 +284090,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013837 name: deafness-encephaloneuropathy-obesity-valvulopathy syndrome def: "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." [Orphanet:254898] +subset: gard_rare {source="GARD:17230"} subset: ordo_disease {source="Orphanet:254898"} synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical, OMIM:614651] synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614651] synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614651] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898] xref: DOID:0070239 {source="MONDO:equivalentTo"} +xref: GARD:17230 {source="Orphanet:254898"} xref: ICD10CM:E88.8 {source="Orphanet:254898", source="Orphanet:254898/attributed", source="Orphanet:254898/ntbt"} xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source="Orphanet:254898/e"} xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"} @@ -276309,12 +284110,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013838 name: coenzyme Q10 deficiency, primary, 3 def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18379"} synonym: "coenzyme Q10 deficiency caused by mutation in PDSS2" EXACT [MONDO:design_pattern] synonym: "coenzyme Q10 deficiency, primary, 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614652] synonym: "coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1, OMIM:614652] synonym: "COQ10D3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614652] synonym: "PDSS2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070240 {source="MONDO:equivalentTo"} +xref: GARD:18379 {source="OMIM:614652"} xref: OMIM:614652 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:614652"} xref: UMLS:C3553358 {source="OMIM:614652", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -276328,6 +284131,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0013839 name: hereditary sensory and autonomic neuropathy type 6 def: "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12987"} subset: ordo_disease {source="Orphanet:314381"} synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381] @@ -276338,6 +284142,7 @@ synonym: "HSAN6" EXACT ABBREVIATION [DOID:0070151, MONDO:Lexical, OMIM:614653, O synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653] synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653] xref: DOID:0070151 {source="MONDO:equivalentTo"} +xref: GARD:12987 {source="Orphanet:314381"} xref: ICD10CM:G60.8 {source="Orphanet:314381", source="Orphanet:314381/attributed", source="Orphanet:314381/ntbt", source="DOID:0070151"} xref: OMIM:614653 {source="MONDO:equivalentTo", source="Orphanet:314381", source="DOID:0070151", source="Orphanet:314381/e"} xref: Orphanet:314381 {source="OMIM:614653", source="MONDO:equivalentTo", source="DOID:0070151"} @@ -276352,11 +284157,13 @@ property_value: confidence "0.7993530796457187" xsd:double id: MONDO:0013840 name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome def: "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." [Orphanet:319678] +subset: gard_rare {source="GARD:17470"} subset: ordo_disease {source="Orphanet:319678"} synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:614654] synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654] synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614654] xref: DOID:0070242 {source="MONDO:equivalentTo"} +xref: GARD:17470 {source="Orphanet:319678"} xref: ICD10CM:E88.8 {source="Orphanet:319678/attributed", source="Orphanet:319678/ntbt", source="Orphanet:319678"} xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", source="Orphanet:319678"} xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"} @@ -276379,6 +284186,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013842 name: cortisone reductase deficiency 2 def: "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." [NCIT:C131084] +subset: gard_rare {source="GARD:15830"} synonym: "11-beta-hydroxysteroid dehydrogenase type 1 deficiency" EXACT [NCIT:C131084] synonym: "cortisone reductase deficiency 2" EXACT [MONDO:Lexical, OMIM:614662] synonym: "cortisone reductase deficiency caused by mutation in HSD11B1" EXACT [MONDO:design_pattern] @@ -276386,6 +284194,7 @@ synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE: synonym: "CORTRD2" EXACT ABBREVIATION [DOID:0090140, MONDO:Lexical, OMIM:614662] synonym: "HSD11B1 cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090140 {source="MONDO:equivalentTo"} +xref: GARD:15830 {source="OMIM:614662"} xref: NCIT:C131084 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: OMIM:614662 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="OMIM:614662"} @@ -276401,11 +284210,13 @@ property_value: confidence "39.00000000000001" xsd:double id: MONDO:0013843 name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency def: "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17418"} subset: ordo_disease {source="Orphanet:314376"} synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "meconium ileus" BROAD [OMIM:614665, OMIM:genemap2] synonym: "meconium ileus caused by mutation in GUCY2C" EXACT [] synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376] +xref: GARD:17418 {source="Orphanet:314376"} xref: ICD10CM:P76.0 {source="Orphanet:314376/attributed", source="Orphanet:314376/ntbt", source="Orphanet:314376"} xref: ICD9:777.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:614665 {source="Orphanet:314376/e", source="MONDO:equivalentTo", source="Orphanet:314376"} @@ -276435,12 +284246,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013845 name: auriculocondylar syndrome 2 def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15831"} synonym: "ARCND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614669] synonym: "AURICULOCONDYLAR syndrome 2" RELATED [OMIM:614669] synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical, OMIM:614669] synonym: "auriculocondylar syndrome caused by mutation in PLCB4" EXACT [MONDO:design_pattern] synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1, OMIM:614669] synonym: "PLCB4 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15831 {source="OMIM:614669"} xref: OMIM:614669 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:614669"} xref: UMLS:C3553404 {source="MONDO:equivalentTo", source="OMIM:614669", source="MONDO:ncbi_mim2gene_medline"} @@ -276468,6 +284281,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013847 name: chromosome 16p11.2 duplication syndrome def: "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." [Orphanet:370079] +subset: gard_rare {source="GARD:12388"} subset: ordo_malformation_syndrome {source="Orphanet:370079"} subset: predisposition synonym: "16p11.2 duplication" RELATED [GARD:0012388] @@ -276481,6 +284295,7 @@ synonym: "proximal dup(16)(p11.2)" EXACT [DOID:0060430, Orphanet:370079] synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079] synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388] xref: DOID:0060430 {source="MONDO:equivalentTo"} +xref: GARD:12388 {source="Orphanet:370079"} xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="Orphanet:370079", source="Orphanet:370079/e"} xref: Orphanet:370079 {source="DOID:0060430", source="MONDO:equivalentTo", source="OMIM:614671"} xref: SCTID:765142003 {source="MONDO:equivalentTo"} @@ -276501,6 +284316,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013848 name: dilated cardiomyopathy 2B def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15832"} synonym: "cardiomyopathy, dilated, 2B" RELATED [MONDO:Lexical, OMIM:614672] synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4, OMIM:614672] synonym: "CMD2B" EXACT ABBREVIATION [DOID:0110441, MONDO:Lexical, OMIM:614672] @@ -276509,6 +284325,7 @@ synonym: "dilated cardiomyopathy type 2B" EXACT [DOID:0110441, MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in GATAD1" EXACT [MONDO:design_pattern] synonym: "GATAD1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110441 {source="MONDO:equivalentTo"} +xref: GARD:15832 {source="OMIM:614672"} xref: ICD10CM:I42.0 {source="DOID:0110441"} xref: OMIM:614672 {source="MONDO:equivalentTo", source="DOID:0110441"} xref: Orphanet:154 {source="OMIM:614672"} @@ -276521,11 +284338,13 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013849 name: microcephaly 8, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15833"} synonym: "autosomal recessive primary microcephaly caused by mutation in CEP135" EXACT [MONDO:design_pattern] synonym: "CEP135 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614673] synonym: "microcephaly 8, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614673] xref: DOID:0070282 {source="MONDO:equivalentTo"} +xref: GARD:15833 {source="OMIM:614673"} xref: OMIM:614673 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:614673"} xref: UMLS:C3553414 {source="OMIM:614673", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -276546,12 +284365,14 @@ replaced_by: MONDO:0044660 [Term] id: MONDO:0013851 name: autosomal dominant aplasia and myelodysplasia +subset: gard_rare {source="GARD:17420"} subset: ordo_disease {source="Orphanet:314399"} synonym: "autosomal dominant aplastic anaemia and myelodysplasia" EXACT OMO:0003005 [] synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399] synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675] +xref: GARD:17420 {source="Orphanet:314399"} xref: ICD10CM:D61.0 {source="Orphanet:314399/attributed", source="Orphanet:314399/ntbt", source="Orphanet:314399"} xref: OMIM:614675 {source="Orphanet:314399/e", source="MONDO:equivalentTo", source="Orphanet:314399"} xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"} @@ -276583,12 +284404,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013853 name: pontocerebellar hypoplasia type 1B def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15834"} synonym: "EXOSC3 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3" EXACT [MONDO:design_pattern] synonym: "PCH1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614678] synonym: "pontocerebellar hypoplasia type 1B" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical, OMIM:614678] xref: DOID:0060266 {source="MONDO:equivalentTo"} +xref: GARD:15834 {source="OMIM:614678"} xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="DOID:0060266", source="OMIM:614678"} xref: UMLS:C3553449 {source="OMIM:614678", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -276603,6 +284426,7 @@ property_value: confidence "48.285714285714285" xsd:double id: MONDO:0013854 name: primary ciliary dyskinesia 17 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15835"} synonym: "CCDC103 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD17" EXACT ABBREVIATION [DOID:0110621, MONDO:Lexical, OMIM:614679] synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical, OMIM:614679] @@ -276613,6 +284437,7 @@ synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in CCDC103" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 17" EXACT [DOID:0110621, MONDORULE:2] xref: DOID:0110621 {source="MONDO:equivalentTo"} +xref: GARD:15835 {source="OMIM:614679"} xref: ICD10CM:Q34.8 {source="DOID:0110621"} xref: OMIM:614679 {source="DOID:0110621", source="MONDO:equivalentTo"} xref: UMLS:C3542550 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614679"} @@ -276655,11 +284480,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013858 name: pontine tegmental cap dysplasia def: "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." [https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia] -subset: gard_rare {source="GARD:0010919"} +subset: gard_rare {source="GARD:10919"} subset: ordo_morphological_anomaly {source="Orphanet:269229"} synonym: "PONTINE tegmental CAP dysplasia" RELATED [OMIM:614688] synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688] synonym: "PTCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614688, Orphanet:269229] +xref: GARD:10919 {source="Orphanet:269229"} xref: ICD10CM:Q04.8 {source="Orphanet:269229", source="Orphanet:269229/ntbt"} xref: OMIM:614688 {source="MONDO:equivalentTo", source="Orphanet:269229", source="Orphanet:269229/e"} xref: Orphanet:269229 {source="OMIM:614688", source="MONDO:equivalentTo"} @@ -276701,6 +284527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013860 name: idiopathic membranous glomerulonephritis def: "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." [Orphanet:97560] +subset: gard_rare {source="GARD:9180"} subset: ordo_disease {source="Orphanet:97560"} synonym: "Extramembranous glomerulonephritis" RELATED [GARD:0009180] synonym: "glomerulonephritis, membranous" RELATED [GARD:0009180] @@ -276711,6 +284538,7 @@ synonym: "membranous GN" RELATED [GARD:0009180] synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060] synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692] synonym: "MGN" RELATED ABBREVIATION [GARD:0009180] +xref: GARD:9180 {source="Orphanet:97560"} xref: ICD10CM:N04.2 {source="Orphanet:97560/ntbt", source="Orphanet:97560"} xref: NCIT:C123060 {source="MONDO:equivalentTo"} xref: OMIM:614692 {source="Orphanet:97560/e", source="MONDO:equivalentTo", source="Orphanet:97560"} @@ -276734,10 +284562,12 @@ replaced_by: MONDO:0010936 [Term] id: MONDO:0013862 name: immunodeficiency, common variable, 7 +subset: gard_rare {source="GARD:15836"} synonym: "CVID7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614699] synonym: "immunodeficiency, common variable, 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614699] synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1, OMIM:614699] xref: DOID:0081150 {source="MONDO:equivalentTo"} +xref: GARD:15836 {source="OMIM:614699"} xref: OMIM:614699 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:614699"} xref: UMLS:C3542922 {source="OMIM:614699", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -276747,12 +284577,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013863 name: combined immunodeficiency due to LRBA deficiency +subset: gard_rare {source="GARD:13565"} subset: ordo_disease {source="Orphanet:445018"} synonym: "CID due to LRBA deficiency" EXACT [Orphanet:445018] synonym: "combined immunodeficiency due to LRBA deficiency" EXACT CLINGEN_PREFERRED [] synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614700] synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700] xref: DOID:0081151 {source="MONDO:equivalentTo"} +xref: GARD:13565 {source="Orphanet:445018"} xref: ICD10CM:D81.8 {source="Orphanet:445018/attributed", source="Orphanet:445018/ntbt", source="Orphanet:445018"} xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source="Orphanet:445018/e"} xref: Orphanet:1572 {source="OMIM:614700"} @@ -276774,6 +284606,7 @@ property_value: confidence "2.3230769230769237" xsd:double id: MONDO:0013864 name: Cornelia de Lange syndrome 4 def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15837"} synonym: "CDLS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614701] synonym: "Cornelia DE Lange syndrome 4" RELATED [OMIM:614701] synonym: "Cornelia de Lange syndrome 4" EXACT [MONDO:Lexical, OMIM:614701] @@ -276781,6 +284614,7 @@ synonym: "Cornelia de Lange syndrome caused by mutation in RAD21" EXACT [MONDO:d synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1, OMIM:614701] synonym: "RAD21 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080508 {source="MONDO:equivalentTo"} +xref: GARD:15837 {source="OMIM:614701"} xref: OMIM:614701 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:614701"} xref: UMLS:C3553517 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614701"} @@ -276796,6 +284630,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013865 name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency def: "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." [Orphanet:314637] +subset: gard_rare {source="GARD:17428"} subset: ordo_disease {source="Orphanet:314637"} synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [OMIM:614702] synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637] @@ -276806,6 +284641,7 @@ synonym: "COXPD10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614702, Orphanet:3146 synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111480 {source="MONDO:equivalentTo"} +xref: GARD:17428 {source="Orphanet:314637"} xref: ICD10CM:I42.2 {source="Orphanet:314637", source="Orphanet:314637/attributed", source="Orphanet:314637/ntbt"} xref: OMIM:614702 {source="MONDO:equivalentTo", source="Orphanet:314637", source="Orphanet:314637/e"} xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"} @@ -276821,6 +284657,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013866 name: neuronal ceroid lipofuscinosis 11 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17426"} subset: ordo_etiological_subtype {source="Orphanet:314629"} synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical, OMIM:614706] synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706] @@ -276832,6 +284669,7 @@ synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2] xref: DOID:0110732 {source="MONDO:equivalentTo"} +xref: GARD:17426 {source="Orphanet:314629"} xref: ICD10CM:E75.4 {source="DOID:0110732", source="Orphanet:314629", source="Orphanet:314629/attributed", source="Orphanet:314629/ntbt"} xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="Orphanet:314629/e"} xref: Orphanet:314629 {source="DOID:0110732", source="MONDO:equivalentTo", source="OMIM:614706"} @@ -276848,7 +284686,7 @@ property_value: confidence "0.625" xsd:double id: MONDO:0013867 name: brown-Vialetto-van Laere syndrome 2 def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0012861"} +subset: gard_rare {source="GARD:12861"} synonym: "BROWN-Vialetto-VAN Laere syndrome 2" RELATED [OMIM:614707] synonym: "brown-Vialetto-van Laere syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614707] synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" EXACT [MONDO:design_pattern] @@ -276856,6 +284694,7 @@ synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1, OMIM:614 synonym: "BVVLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614707] synonym: "SLC52A2 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080786 {source="MONDO:equivalentTo"} +xref: GARD:12861 {source="Orphanet:572550"} xref: HGNC:30224 {source="GARD:0012861"} xref: NCIT:C183529 {source="MONDO:equivalentTo"} xref: OMIM:614707 {source="MONDO:equivalentTo"} @@ -276872,9 +284711,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12861/brown- [Term] id: MONDO:0013868 name: porokeratosis 7, multiple types +subset: gard_rare {source="GARD:15838"} synonym: "POROK7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614714] synonym: "porokeratosis 7, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:614714] synonym: "porokeratosis 7, multiple types" EXACT [OMIM:614714] +xref: GARD:15838 {source="OMIM:614714"} xref: OMIM:614714 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:614714"} xref: UMLS:C0265970 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -276888,7 +284729,7 @@ property_value: confidence "1.1527777777777777" xsd:double id: MONDO:0013869 name: adenine phosphoribosyltransferase deficiency def: "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." [Orphanet:976] -subset: gard_rare +subset: gard_rare {source="GARD:546"} subset: ordo_disease {source="Orphanet:976"} synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [DOID:0060350, Orphanet:976] synonym: "2,8-dihydroxyadeninuria disease" EXACT [MONDO:cjm, PMID:23064195] @@ -276900,6 +284741,7 @@ synonym: "nephrolithiasis, Dha" RELATED [OMIM:614723] synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [OMIM:614723] synonym: "urolithiasis, Dha" RELATED [OMIM:614723] xref: DOID:0060350 {source="MONDO:equivalentTo"} +xref: GARD:546 {source="Orphanet:976"} xref: ICD10CM:E79.8 {source="Orphanet:976/attributed", source="Orphanet:976/ntbt", source="Orphanet:976"} xref: MESH:C538228 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: NCIT:C121564 {source="MONDO:equivalentTo", source="DOID:0060350"} @@ -276919,6 +284761,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10666/dihydr id: MONDO:0013870 name: TMEM165-congenital disorder of glycosylation def: "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." [Orphanet:314667] +subset: gard_rare {source="GARD:12413"} subset: ordo_disease {source="Orphanet:314667"} synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [Orphanet:314667] synonym: "CDG IIk" RELATED [OMIM:614727] @@ -276932,6 +284775,7 @@ synonym: "TMEM165-CDG" EXACT ABBREVIATION [Orphanet:314667] synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413] synonym: "TMEM165-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070263 {source="MONDO:equivalentTo"} +xref: GARD:12413 {source="Orphanet:314667"} xref: ICD10CM:E77.8 {source="Orphanet:314667", source="Orphanet:314667/attributed", source="Orphanet:314667/ntbt"} xref: OMIM:614727 {source="Orphanet:314667", source="MONDO:equivalentTo", source="Orphanet:314667/e"} xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"} @@ -276972,12 +284816,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013872 name: prostate cancer, hereditary, 2 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15839"} synonym: "ELAC2 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial prostate cancer caused by mutation in ELAC2" EXACT [MONDO:design_pattern] synonym: "HPC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614731] synonym: "prostate cancer, hereditary, 2" EXACT [MONDO:Lexical, OMIM:614731] synonym: "prostate cancer, hereditary, 2, susceptibility to" EXACT [OMIM:614731, OMIM:genemap2] synonym: "prostate cancer, hereditary, type 2" EXACT [MONDORULE:1, OMIM:614731] +xref: GARD:15839 {source="OMIM:614731"} xref: OMIM:614731 {source="MONDO:equivalentTo"} xref: UMLS:C3539120 {source="OMIM:614731", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0008315 {source="DC-OMIM:614731", source="MONDO:0013872/inferred", source="MONDO:Redundant"} ! prostate cancer @@ -276992,7 +284838,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013873 name: IMAGe syndrome def: "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." [Orphanet:85173] -subset: gard_rare {source="GARD:0012312"} +subset: gard_rare {source="GARD:12312"} subset: ordo_malformation_syndrome {source="Orphanet:85173"} synonym: "IMAGe syndrome" EXACT [OMIM:614732] synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [DOID:0050885] @@ -277000,6 +284846,7 @@ synonym: "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypo synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [OMIM:614732] synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173] xref: DOID:0050885 {source="MONDO:equivalentTo"} +xref: GARD:12312 {source="Orphanet:85173"} xref: ICD10CM:Q87.1 {source="Orphanet:85173/attributed", source="Orphanet:85173/ntbt", source="Orphanet:85173"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C130988 {source="MONDO:equivalentTo"} @@ -277023,6 +284870,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12312/image- id: MONDO:0013874 name: glucocorticoid deficiency 4 def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15840"} synonym: "familial glucocorticoid deficiency caused by mutation in NNT" EXACT [MONDO:design_pattern] synonym: "GCCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614736] synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical, OMIM:614736] @@ -277030,6 +284878,7 @@ synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficien synonym: "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" EXACT [OMIM:614736, OMIM:genemap2] synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1, OMIM:614736] synonym: "NNT familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15840 {source="OMIM:614736"} xref: NCIT:C131452 {source="MONDO:equivalentTo"} xref: OMIM:614736 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:614736"} @@ -277046,7 +284895,7 @@ id: MONDO:0013875 name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." [MONDO:patterns/disease_series_by_gene] comment: Present because it is in the OMIM series. {source="OMIM:614739"} -subset: gard_rare +subset: gard_rare {source="GARD:12963"} subset: ordo_disease {source="Orphanet:352328"} synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001] @@ -277063,6 +284912,7 @@ synonym: "MGCA6" EXACT ABBREVIATION [DOID:0110001] synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SERAC1 defect" RELATED [GARD:0012963] xref: DOID:0110001 {source="MONDO:equivalentTo"} +xref: GARD:12963 {source="Orphanet:352328"} xref: ICD10CM:E71.1 {source="Orphanet:352328", source="Orphanet:352328/attributed", source="Orphanet:352328/ntbt", source="DOID:0110001"} xref: OMIM:614739 {source="Orphanet:352328/e", source="MONDO:equivalentTo", source="Orphanet:352328", source="DOID:0110001"} xref: Orphanet:352328 {source="MONDO:equivalentTo", source="OMIM:614739", source="DOID:0110001"} @@ -277103,10 +284953,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013877 name: mitochondrial pyruvate carrier deficiency def: "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." [PMID:22628558] +subset: gard_rare {source="GARD:17771"} subset: ordo_disease {source="Orphanet:447784"} synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741] synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614741] xref: DOID:0080363 {source="MONDO:equivalentTo"} +xref: GARD:17771 {source="Orphanet:447784"} xref: ICD10CM:E74.4 {source="Orphanet:447784/attributed", source="Orphanet:447784/ntbt", source="Orphanet:447784"} xref: OMIM:614741 {source="Orphanet:447784/e", source="MONDO:equivalentTo", source="Orphanet:447784"} xref: Orphanet:447784 {source="MONDO:equivalentTo"} @@ -277162,11 +285014,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013880 name: facial paresis, hereditary congenital, 3 def: "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18437"} synonym: "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" EXACT [MONDO:design_pattern] synonym: "facial paresis, hereditary congenital, 3" EXACT [MONDO:Lexical, OMIM:614744] synonym: "facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1, OMIM:614744] synonym: "HCFP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614744] synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18437 {source="OMIM:614744"} xref: OMIM:614744 {source="MONDO:equivalentTo"} xref: Orphanet:306530 {source="OMIM:614744"} xref: UMLS:C3553625 {source="OMIM:614744", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277182,6 +285036,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013881 name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome def: "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:306504] +subset: gard_rare {source="GARD:17377"} subset: ordo_disease {source="Orphanet:306504"} synonym: "congenital ILNEB syndrome" EXACT [Orphanet:306504] synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [Orphanet:306504] @@ -277193,6 +285048,7 @@ synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullo synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504] synonym: "JEB-RR" EXACT [Orphanet:306504] synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504] +xref: GARD:17377 {source="Orphanet:306504"} xref: OMIM:614748 {source="Orphanet:306504", source="MONDO:equivalentTo", source="Orphanet:306504/e"} xref: Orphanet:306504 {source="MONDO:equivalentTo", source="OMIM:614748"} xref: UMLS:C3553636 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614748"} @@ -277210,6 +285066,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013882 name: hyperphosphatasia with intellectual disability syndrome 2 def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18351"} synonym: "glycosylphosphatidylinositol biosynthesis defect 6" RELATED [OMIM:614749] synonym: "HPMRS2" RELATED DEPRECATED [MONDO:Lexical, OMIM:614749] synonym: "hyperphosphatasia with intellectual disability syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614749] @@ -277218,6 +285075,7 @@ synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT DEPRECATED synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614749] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO" EXACT [MONDO:design_pattern] synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18351 {source="OMIM:614749"} xref: OMIM:614749 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:614749"} xref: UMLS:C3553637 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614749"} @@ -277231,6 +285089,7 @@ property_value: confidence "2.281173262883367" xsd:double id: MONDO:0013883 name: congenital myasthenic syndrome 13 def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18452"} synonym: "CMS13" EXACT ABBREVIATION [DOID:0110676, MONDO:Lexical, OMIM:614750] synonym: "CMSTA2" EXACT ABBREVIATION [DOID:0110676] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [DOID:0110676] @@ -277243,6 +285102,7 @@ synonym: "myasthenic syndrome, congenital, 13, with tubular aggregates" EXACT [O synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2, OMIM:614750] synonym: "myasthenic syndrome, congenital, with tubular aggregates 2" RELATED [OMIM:614750] xref: DOID:0110676 {source="MONDO:equivalentTo"} +xref: GARD:18452 {source="OMIM:614750"} xref: OMIM:614750 {source="DOID:0110676", source="MONDO:equivalentTo"} xref: Orphanet:353327 {source="OMIM:614750"} xref: Orphanet:590 {source="OMIM:614750"} @@ -277258,6 +285118,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013884 name: neuronopathy, distal hereditary motor, type 5B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18267"} synonym: "dHMN 5B" RELATED [OMIM:614751] synonym: "HMN 5B" RELATED [OMIM:614751] synonym: "HMN5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614751] @@ -277267,6 +285128,7 @@ synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [OMIM:614751] synonym: "REEP1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spinal muscular atrophy, distal, type 5B" RELATED [OMIM:614751] xref: DOID:0111205 {source="MONDO:equivalentTo"} +xref: GARD:18267 {source="OMIM:614751"} xref: OMIM:614751 {source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="OMIM:614751"} xref: UMLS:C3553656 {source="OMIM:614751", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277282,12 +285144,14 @@ id: MONDO:0013885 name: Malan overgrowth syndrome def: "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness." [Orphanet:420179] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:13811"} subset: ordo_malformation_syndrome {source="Orphanet:420179"} synonym: "Malan syndrome" RELATED [OMIM:614753] synonym: "Sotos syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614753, Orphanet:420179] synonym: "Sotos syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614753] synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614753] xref: DOID:0112102 {source="MONDO:equivalentTo"} +xref: GARD:13811 {source="Orphanet:420179"} xref: ICD10CM:Q87.3 {source="Orphanet:420179", source="Orphanet:420179/attributed", source="Orphanet:420179/ntbt"} xref: OMIM:614753 {source="Orphanet:420179", source="MONDO:equivalentTo", source="Orphanet:420179/e"} xref: Orphanet:420179 {source="OMIM:614753", source="MONDO:equivalentTo"} @@ -277307,6 +285171,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013886 name: cerebellar dysfunction with variable cognitive and behavioral abnormalities def: "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." [Orphanet:314647] +subset: gard_rare {source="GARD:17429"} subset: ordo_disease {source="Orphanet:314647"} synonym: "CANPMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614756] synonym: "cerebellar ataxia, nonprogressive, with intellectual disability" RELATED [MONDO:Lexical, OMIM:614756] @@ -277317,6 +285182,7 @@ synonym: "nonprogressive cerebellar ataxia with intellectual disability" RELATED synonym: "nonprogressive cerebellar ataxia with mental retardation" RELATED DEPRECATED [DOID:0050998] synonym: "nonprogressive cerebellar atxia with intellectual disability" EXACT CLINGEN_PREFERRED [] xref: DOID:0050998 {source="MONDO:equivalentTo"} +xref: GARD:17429 {source="Orphanet:314647"} xref: ICD10CM:G11.0 {source="Orphanet:314647/attributed", source="Orphanet:314647/ntbt", source="Orphanet:314647"} xref: OMIM:614756 {source="Orphanet:314647", source="MONDO:equivalentTo", source="DOID:0050998", source="Orphanet:314647/e"} xref: Orphanet:314647 {source="MONDO:equivalentTo", source="OMIM:614756"} @@ -277367,6 +285233,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013889 name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +subset: gard_rare {source="GARD:10945"} subset: ordo_malformation_syndrome {source="Orphanet:391677"} synonym: "short stature with optic atrophy and Pelger-Huët anomaly syndrome" RELATED [GARD:0010945] synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical, OMIM:614800] @@ -277374,6 +285241,7 @@ synonym: "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" EXACT CLING synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Orphanet:391677] synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800] synonym: "soph syndrome" EXACT [Orphanet:391677] +xref: GARD:10945 {source="Orphanet:391677"} xref: ICD10CM:Q87.1 {source="Orphanet:391677/attributed", source="Orphanet:391677/ntbt", source="Orphanet:391677"} xref: OMIM:614800 {source="Orphanet:391677/e", source="MONDO:equivalentTo", source="Orphanet:391677"} xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"} @@ -277389,6 +285257,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013890 name: congenital myopathy with internal nuclei and atypical cores def: "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." [Orphanet:319160] +subset: gard_rare {source="GARD:17443"} subset: ordo_disease {source="Orphanet:319160"} synonym: "centronuclear myopathy 4" EXACT [OMIM:614807, OMIM:genemap2] synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160] @@ -277396,6 +285265,7 @@ synonym: "CNM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614807, Orphanet:319160] synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807] synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807] xref: DOID:0111224 {source="MONDO:equivalentTo"} +xref: GARD:17443 {source="Orphanet:319160"} xref: ICD10CM:G71.2 {source="Orphanet:319160/attributed", source="Orphanet:319160/ntbt", source="Orphanet:319160"} xref: OMIM:614807 {source="Orphanet:319160", source="MONDO:equivalentTo", source="Orphanet:319160/e"} xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"} @@ -277410,12 +285280,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013891 name: amyotrophic lateral sclerosis type 18 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15841"} synonym: "ALS18" EXACT ABBREVIATION [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 18" EXACT CLINGEN_PREFERRED [MONDORULE:2, OMIM:614808] synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060209 {source="MONDO:equivalentTo"} +xref: GARD:15841 {source="OMIM:614808"} xref: OMIM:614808 {source="MONDO:equivalentTo", source="DOID:0060209"} xref: Orphanet:803 {source="OMIM:614808"} xref: UMLS:C3553719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614808"} @@ -277429,10 +285301,12 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0013892 name: C3 glomerulonephritis def: "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." [NCIT:P378] +subset: gard_rare {source="GARD:16487"} subset: ordo_histopathological_subtype {source="Orphanet:329931"} synonym: "CFHR5 deficiency" RELATED [OMIM:614809] synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043] synonym: "nephropathy due to CFHR5 deficiency" EXACT [OMIM:614809, OMIM:genemap2] +xref: GARD:16487 {source="Orphanet:329931"} xref: ICD10CM:N00.5 {source="Orphanet:329931/attributed", source="Orphanet:329931/ntbt", source="Orphanet:329931"} xref: NCIT:C123043 {source="MONDO:equivalentTo"} xref: OMIM:614809 {source="Orphanet:329931/e", source="MONDO:equivalentTo", source="Orphanet:329931"} @@ -277474,10 +285348,12 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013894 name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome def: "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene." [PMID:26791357] +subset: gard_rare {source="GARD:17419"} subset: ordo_disease {source="Orphanet:314394"} synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394] +xref: GARD:17419 {source="Orphanet:314394"} xref: ICD10CM:Q87.1 {source="Orphanet:314394/attributed", source="Orphanet:314394/ntbt", source="Orphanet:314394"} xref: OMIM:614813 {source="Orphanet:314394/e", source="MONDO:equivalentTo", source="Orphanet:314394"} xref: Orphanet:314394 {source="MONDO:equivalentTo", source="OMIM:614813"} @@ -277495,11 +285371,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013895 name: Adams-Oliver syndrome 3 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15842"} synonym: "Adams-Oliver syndrome 3" EXACT [MONDO:Lexical, OMIM:614814] synonym: "Adams-Oliver syndrome caused by mutation in RBPJ" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1, OMIM:614814] synonym: "AOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614814] synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15842 {source="OMIM:614814"} xref: OMIM:614814 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:614814"} xref: UMLS:C3553748 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614814"} @@ -277515,12 +285393,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013896 name: Joubert syndrome 18 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15843"} synonym: "JBTS18" EXACT ABBREVIATION [DOID:0110987, MONDO:Lexical, OMIM:614815] synonym: "Joubert syndrome 18" EXACT [MONDO:Lexical, OMIM:614815] synonym: "Joubert syndrome caused by mutation in TCTN3" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 18" EXACT [DOID:0110987, MONDORULE:2, OMIM:614815] synonym: "TCTN3 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110987 {source="MONDO:equivalentTo"} +xref: GARD:15843 {source="OMIM:614815"} xref: OMIM:614815 {source="DOID:0110987", source="MONDO:equivalentTo"} xref: Orphanet:2754 {source="OMIM:614815"} xref: UMLS:C3553758 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614815"} @@ -277534,6 +285414,7 @@ property_value: confidence "0.5677052714089748" xsd:double id: MONDO:0013897 name: Loeys-Dietz syndrome 4 def: "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10588"} synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" RELATED [OMIM:614816] synonym: "LDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614816] synonym: "Loeys-Dietz syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614816] @@ -277541,6 +285422,7 @@ synonym: "Loeys-Dietz syndrome caused by mutation in TGFB2" EXACT [MONDO:design_ synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1, OMIM:614816] synonym: "TGFB2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070233 {source="MONDO:equivalentTo"} +xref: GARD:10588 {source="OMIM:614816"} xref: OMIM:614816 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:614816"} xref: UMLS:C3553762 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614816"} @@ -277556,7 +285438,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013898 name: karyomegalic interstitial nephritis def: "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0011003"} +subset: gard_rare {source="GARD:11003"} subset: ordo_disease {source="Orphanet:401996"} synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern] @@ -277566,6 +285448,7 @@ synonym: "kin" EXACT [DOID:0060911, Orphanet:401996] synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, OMIM:614817] synonym: "systemic karyomegaly" EXACT [Orphanet:401996] xref: DOID:0060911 {source="MONDO:equivalentTo"} +xref: GARD:11003 {source="Orphanet:401996"} xref: ICD10CM:N11.8 {source="Orphanet:401996", source="Orphanet:401996/attributed", source="Orphanet:401996/ntbt", source="DOID:0060911"} xref: NCIT:C173626 {source="MONDO:equivalentTo"} xref: OMIM:614817 {source="Orphanet:401996", source="MONDO:equivalentTo", source="Orphanet:401996/e", source="DOID:0060911"} @@ -277585,12 +285468,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11003/karyom id: MONDO:0013899 name: Weill-Marchesani syndrome 3 def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15844"} synonym: "LTBP2 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Weill-Marchesani syndrome 3" EXACT [MONDO:Lexical, OMIM:614819] synonym: "Weill-Marchesani syndrome 3, recessive" EXACT [OMIM:614819, OMIM:genemap2] synonym: "Weill-Marchesani syndrome caused by mutation in LTBP2" EXACT [MONDO:design_pattern] synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1, OMIM:614819] synonym: "WMS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614819] +xref: GARD:15844 {source="OMIM:614819"} xref: OMIM:614819 {source="MONDO:equivalentTo"} xref: Orphanet:3449 {source="OMIM:614819"} xref: UMLS:C3553785 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614819"} @@ -277609,11 +285494,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013900 name: alternating hemiplegia of childhood 2 def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15845"} synonym: "AHC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614820] synonym: "alternating hemiplegia of childhood 2" EXACT [MONDO:Lexical, OMIM:614820] synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1, OMIM:614820] synonym: "ATP1A3 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15845 {source="OMIM:614820"} xref: OMIM:614820 {source="MONDO:equivalentTo"} xref: Orphanet:2131 {source="OMIM:614820"} xref: UMLS:C3553788 {source="OMIM:614820", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277627,6 +285514,7 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0013901 name: spermatogenic failure 10 def: "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18401"} synonym: "azoospermia caused by mutation in SEPT12" EXACT [MONDO:design_pattern] synonym: "SEPT12 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 10" EXACT [MONDO:Lexical, OMIM:614822] @@ -277634,6 +285522,7 @@ synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2, OMIM:614822] synonym: "spermatogenic failure with defective sperm annulus" RELATED [OMIM:614822] synonym: "SPGF10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614822] xref: DOID:0070178 {source="MONDO:equivalentTo"} +xref: GARD:18401 {source="OMIM:614822"} xref: OMIM:614822 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:614822"} xref: UMLS:C3553793 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614822"} @@ -277649,6 +285538,7 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0013902 name: aortic valve disease 2 def: "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18471"} synonym: "aortic valve disease 2" EXACT [MONDO:Lexical, OMIM:614823] synonym: "aortic valve disease caused by mutation in SMAD6" EXACT [MONDO:design_pattern] synonym: "aortic valve disease type 2" EXACT [MONDORULE:1, OMIM:614823] @@ -277657,6 +285547,7 @@ synonym: "AOVD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614823] synonym: "bicuspid aortic valve" RELATED [OMIM:614823] synonym: "SMAD6 aortic valve disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080334 {source="MONDO:equivalentTo"} +xref: GARD:18471 {source="OMIM:614823"} xref: OMIM:614823 {source="DOID:0080334", source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="OMIM:614823"} xref: UMLS:C3542024 {source="MONDO:equivalentTo", source="OMIM:614823", source="MONDO:ncbi_mim2gene_medline"} @@ -277683,6 +285574,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013904 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15846"} synonym: "MDDGA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614830] synonym: "muscle-eye-brain-POMGNT2 related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8" RELATED [OMIM:614830] @@ -277692,6 +285584,7 @@ synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in PO synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [OMIM:614830] xref: DOID:0111231 {source="MONDO:equivalentTo"} +xref: GARD:15846 {source="OMIM:614830"} xref: OMIM:614830 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614830", source="MONDO:relatedTo"} xref: UMLS:C3553813 {source="OMIM:614830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277707,6 +285600,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013905 name: autosomal recessive spinocerebellar ataxia 13 def: "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." [Orphanet:324262] +subset: gard_rare {source="GARD:17481"} subset: ordo_clinical_subtype {source="Orphanet:324262"} synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern] @@ -277720,6 +285614,7 @@ synonym: "SCAR13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614831, Orphanet:32426 synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831] synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831] xref: DOID:0080062 {source="MONDO:equivalentTo"} +xref: GARD:17481 {source="Orphanet:324262"} xref: ICD10CM:G11.1 {source="Orphanet:324262", source="Orphanet:324262/attributed", source="Orphanet:324262/ntbt"} xref: OMIM:614831 {source="Orphanet:324262/e", source="MONDO:equivalentTo", source="Orphanet:324262", source="DOID:0080062"} xref: Orphanet:324262 {source="OMIM:614831", source="MONDO:equivalentTo"} @@ -277735,6 +285630,7 @@ property_value: confidence "9.000000000000002" xsd:double id: MONDO:0013906 name: amelogenesis imperfecta hypomaturation type 2A4 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15847"} synonym: "AI2A4" EXACT ABBREVIATION [DOID:0110062, MONDO:Lexical, OMIM:614832] synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062] @@ -277743,6 +285639,7 @@ synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lex synonym: "amelogenesis imperfecta, type IIA4" EXACT [OMIM:614832, OMIM:genemap2] synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110062 {source="MONDO:equivalentTo"} +xref: GARD:15847 {source="OMIM:614832"} xref: ICD10CM:K00.5 {source="DOID:0110062"} xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"} xref: Orphanet:100033 {source="OMIM:614832"} @@ -277760,7 +285657,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013907 name: bilateral generalized polymicrogyria def: "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria] -subset: gard_rare {source="GARD:0010786"} +subset: gard_rare {source="GARD:10786"} subset: ordo_clinical_subtype {source="Orphanet:208447"} synonym: "bilateral generalized polymicrogyria" EXACT CLINGEN_PREFERRED [GARD:0010786] synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [OMIM:614833] @@ -277769,6 +285666,7 @@ synonym: "MSSP" RELATED ABBREVIATION [OMIM:614833] synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614833] synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833] xref: DOID:0080920 {source="MONDO:equivalentTo"} +xref: GARD:10786 {source="Orphanet:208447"} xref: ICD10CM:Q04.3 {source="Orphanet:208447/attributed", source="Orphanet:208447/ntbt", source="Orphanet:208447"} xref: Orphanet:208447 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="OMIM:614833"} @@ -277783,9 +285681,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10786/bilate [Term] id: MONDO:0013908 name: thyrotoxic periodic paralysis, susceptibility to, 3 +subset: gard_rare {source="GARD:15848"} subset: predisposition synonym: "thyrotoxic periodic paralysis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614834] synonym: "TTPP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614834] +xref: GARD:15848 {source="OMIM:614834"} xref: OMIM:614834 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:614834"} xref: UMLS:C3553839 {source="OMIM:614834", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -277812,11 +285712,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013910 name: hypogonadotropic hypogonadism 8 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15849"} synonym: "HH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614837] synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614837] synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1R" EXACT [MONDO:design_pattern] synonym: "KISS1R hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090074 {source="MONDO:equivalentTo"} +xref: GARD:15849 {source="OMIM:614837"} xref: ICD10CM:E23.0 {source="DOID:0090074", source="MONDO:relatedTo"} xref: OMIM:614837 {source="DOID:0090074", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="OMIM:614837"} @@ -277832,11 +285734,13 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013911 name: hypogonadotropic hypogonadism 9 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15850"} synonym: "HH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614838] synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614838] synonym: "hypogonadotropic hypogonadism caused by mutation in NSMF" EXACT [MONDO:design_pattern] synonym: "NSMF hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090085 {source="MONDO:equivalentTo"} +xref: GARD:15850 {source="OMIM:614838"} xref: ICD10CM:E23.0 {source="DOID:0090085", source="MONDO:relatedTo"} xref: OMIM:614838 {source="DOID:0090085", source="MONDO:equivalentTo"} xref: UMLS:C3553842 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614838"} @@ -277851,11 +285755,13 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013912 name: hypogonadotropic hypogonadism 10 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18600"} synonym: "HH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614839] synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614839] synonym: "hypogonadotropic hypogonadism caused by mutation in TAC3" EXACT [MONDO:design_pattern] synonym: "TAC3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090089 {source="MONDO:equivalentTo"} +xref: GARD:18600 {source="OMIM:614839"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090089"} xref: OMIM:614839 {source="DOID:0090089", source="MONDO:equivalentTo"} xref: UMLS:C3553843 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614839"} @@ -277869,11 +285775,13 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013913 name: hypogonadotropic hypogonadism 11 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15851"} synonym: "HH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614840] synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614840] synonym: "hypogonadotropic hypogonadism caused by mutation in TACR3" EXACT [MONDO:design_pattern] synonym: "TACR3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090071 {source="MONDO:equivalentTo"} +xref: GARD:15851 {source="OMIM:614840"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090071"} xref: OMIM:614840 {source="MONDO:equivalentTo", source="DOID:0090071"} xref: UMLS:C3553844 {source="OMIM:614840", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277888,7 +285796,7 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013914 name: hypogonadotropic hypogonadism 12 with or without anosmia def: "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." [DOID:0090072, PMID:19535795] -subset: gard_rare +subset: gard_rare {source="GARD:276"} synonym: "eunuchoidism familial hypogonadotropic" RELATED [GARD:0000276] synonym: "eunuchoidism, familial hypogonadotropic" EXACT [OMIM:614841] synonym: "familial hypogonadotrophic eunuchoidism" EXACT [DOID:0090072] @@ -277900,6 +285808,7 @@ synonym: "gonadotropin deficiency, familial idiopathic" RELATED [OMIM:614841] synonym: "HH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614841] synonym: "hypogonadotropic hypogonadism 12 with or without anosmia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614841] xref: DOID:0090072 {source="MONDO:equivalentTo"} +xref: GARD:276 {source="OMIM:614841"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090072"} xref: MESH:C535764 {source="MONDO:equivalentTo"} xref: OMIM:227200 {source="GARD:0000276", source="MONDO:equivalentObsolete"} @@ -277915,11 +285824,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/276/eunuchoi id: MONDO:0013915 name: hypogonadotropic hypogonadism 13 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18601"} synonym: "HH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614842] synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614842] synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1" EXACT [MONDO:design_pattern] synonym: "KISS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090073 {source="MONDO:equivalentTo"} +xref: GARD:18601 {source="OMIM:614842"} xref: ICD10CM:E23.0 {source="DOID:0090073", source="MONDO:relatedTo"} xref: OMIM:614842 {source="DOID:0090073", source="MONDO:equivalentTo"} xref: UMLS:C3541462 {source="OMIM:614842", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -277954,12 +285865,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013917 name: nephronophthisis 15 def: "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15852"} synonym: "CEP164 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in CEP164" EXACT [] synonym: "nephronophthisis 15" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614845] synonym: "nephronophthisis type 15" EXACT [DOID:0111123, MONDORULE:2, OMIM:614845] synonym: "NPHP15" EXACT ABBREVIATION [DOID:0111123, MONDO:Lexical, OMIM:614845] xref: DOID:0111123 {source="MONDO:equivalentTo"} +xref: GARD:15852 {source="OMIM:614845"} xref: OMIM:614845 {source="MONDO:equivalentTo", source="DOID:0111123"} xref: Orphanet:3156 {source="OMIM:614845"} xref: UMLS:C3541853 {source="MONDO:equivalentTo", source="OMIM:614845", source="MONDO:ncbi_mim2gene_medline"} @@ -277974,12 +285887,14 @@ property_value: confidence "26.3000000000001" xsd:double [Term] id: MONDO:0013918 name: distal tetrasomy 15q +subset: gard_rare {source="GARD:17424"} subset: ordo_etiological_subtype {source="Orphanet:314588"} synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4, Orphanet:314588] synonym: "levy-Shanske syndrome" RELATED [OMIM:614846] synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588] synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588] synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846] +xref: GARD:17424 {source="Orphanet:314588"} xref: ICD10CM:Q99.8 {source="Orphanet:314588", source="Orphanet:314588/attributed", source="Orphanet:314588/ntbt"} xref: OMIM:614846 {source="Orphanet:314588", source="MONDO:equivalentTo", source="Orphanet:314588/e"} xref: Orphanet:314585 {source="OMIM:614846"} @@ -278012,6 +285927,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013920 name: herpes simplex encephalitis, susceptibility to, 3 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15853"} subset: predisposition synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5" RELATED [OMIM:614849] synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849] @@ -278021,6 +285937,7 @@ synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849] synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849] synonym: "IIAE5" RELATED ABBREVIATION [OMIM:614849] synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15853 {source="OMIM:614849"} xref: OMIM:614849 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614849"} xref: UMLS:C3553868 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614849"} @@ -278039,6 +285956,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013921 name: herpes simplex encephalitis, susceptibility to, 4 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15854"} subset: predisposition synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6" RELATED [OMIM:614850] synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850] @@ -278048,6 +285966,7 @@ synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850] synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850] synonym: "IIAE6" RELATED ABBREVIATION [OMIM:614850] synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15854 {source="OMIM:614850"} xref: OMIM:614850 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614850"} xref: UMLS:C3553869 {source="OMIM:614850", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -278068,6 +285987,7 @@ id: MONDO:0013922 name: Seckel syndrome 7 def: "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." [Orphanet:319675] comment: ORDO calls this microcephalic primordial dwarfism, Dauber type +subset: gard_rare {source="GARD:17469"} subset: ordo_malformation_syndrome {source="Orphanet:319675"} synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675] synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -278076,6 +285996,7 @@ synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851] xref: DOID:0070011 {source="MONDO:equivalentTo"} +xref: GARD:17469 {source="Orphanet:319675"} xref: ICD10CM:Q87.1 {source="Orphanet:319675", source="Orphanet:319675/attributed", source="Orphanet:319675/ntbt"} xref: OMIM:614851 {source="Orphanet:319675/e", source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675"} xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"} @@ -278091,11 +286012,13 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013923 name: microcephaly 9, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15855"} synonym: "autosomal recessive primary microcephaly caused by mutation in CEP152" EXACT [MONDO:design_pattern] synonym: "CEP152 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614852] synonym: "microcephaly 9, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614852] xref: DOID:0070292 {source="MONDO:equivalentTo"} +xref: GARD:15855 {source="OMIM:614852"} xref: OMIM:614852 {source="MONDO:equivalentTo"} xref: UMLS:C3553886 {source="OMIM:614852", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016660 {source="DC-OMIM:614852", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly @@ -278108,6 +286031,7 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0013924 name: osteogenesis imperfecta type 13 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15856"} synonym: "BMP1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI, type 13" RELATED [OMIM:614856] synonym: "OI13" EXACT ABBREVIATION [DOID:0110342, MONDO:Lexical, OMIM:614856] @@ -278116,6 +286040,7 @@ synonym: "osteogenesis imperfecta type XIII" EXACT [DOID:0110342] synonym: "osteogenesis imperfecta, type 13" RELATED [OMIM:614856] synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical, OMIM:614856] xref: DOID:0110342 {source="MONDO:equivalentTo"} +xref: GARD:15856 {source="OMIM:614856"} xref: ICD10CM:Q78.0 {source="DOID:0110342"} xref: OMIM:614856 {source="MONDO:equivalentTo", source="DOID:0110342"} xref: Orphanet:216812 {source="OMIM:614856", source="MONDO:directSiblingOf"} @@ -278128,7 +286053,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013925 name: methylmalonic acidemia with homocystinuria, type cblJ -subset: gard_rare {source="GARD:0012621"} +subset: gard_rare {source="GARD:12621"} subset: ordo_clinical_subtype {source="Orphanet:369955"} synonym: "cblJ defects" EXACT [Orphanet:369955] synonym: "cobalamin J defect" EXACT [Orphanet:369955] @@ -278137,6 +286062,7 @@ synonym: "MAHCJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614857] synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:0012621] synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857] synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955] +xref: GARD:12621 {source="Orphanet:369955"} xref: ICD10CM:E71.1 {source="Orphanet:369955/attributed", source="Orphanet:369955/ntbt", source="Orphanet:369955"} xref: OMIM:614857 {source="Orphanet:369955", source="MONDO:equivalentTo", source="Orphanet:369955/e"} xref: Orphanet:26 {source="OMIM:614857"} @@ -278151,11 +286077,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12621/methyl id: MONDO:0013926 name: hypogonadotropic hypogonadism 14 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15857"} synonym: "HH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614858] synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614858] synonym: "hypogonadotropic hypogonadism caused by mutation in WDR11" EXACT [MONDO:design_pattern] synonym: "WDR11 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090087 {source="MONDO:equivalentTo"} +xref: GARD:15857 {source="OMIM:614858"} xref: ICD10CM:E23.0 {source="DOID:0090087", source="MONDO:relatedTo"} xref: OMIM:614858 {source="DOID:0090087", source="MONDO:equivalentTo"} xref: UMLS:C3540450 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614858"} @@ -278169,10 +286097,12 @@ property_value: confidence "1.018928274356262" xsd:double [Term] id: MONDO:0013927 name: peroxisome biogenesis disorder 3A (Zellweger) +subset: gard_rare {source="GARD:15858"} synonym: "PBD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614859] synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614859] synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [OMIM:614859] xref: DOID:0080478 {source="MONDO:equivalentTo"} +xref: GARD:15858 {source="OMIM:614859"} xref: MESH:C566633 {source="MONDO:equivalentTo"} xref: NCIT:C155752 {source="MONDO:equivalentTo"} xref: OMIM:614859 {source="MONDO:equivalentTo"} @@ -278189,6 +286119,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013928 name: dystonia 23 def: "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17694"} subset: ordo_disease {source="Orphanet:420492"} synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492] synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -278197,6 +286128,7 @@ synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860] synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern] synonym: "DYT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614860, Orphanet:420492] xref: DOID:0090051 {source="MONDO:equivalentTo"} +xref: GARD:17694 {source="Orphanet:420492"} xref: ICD10CM:G24.8 {source="DOID:0090051", source="Orphanet:420492/attributed", source="Orphanet:420492/ntbt", source="Orphanet:420492"} xref: OMIM:614860 {source="DOID:0090051", source="Orphanet:420492/e", source="MONDO:equivalentTo", source="Orphanet:420492"} xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"} @@ -278214,6 +286146,7 @@ id: MONDO:0013929 name: autosomal recessive nonsyndromic hearing loss 98 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22644"} synonym: "autosomal recessive deafness 98" NARROW [DOID:0110540] synonym: "autosomal recessive nonsyndromic deafness 98" NARROW CLINGEN_PREFERRED [OMIM:614861] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" NARROW [MONDO:design_pattern] @@ -278223,6 +286156,7 @@ synonym: "deafness, autosomal recessive type 98" NARROW [MONDORULE:2, OMIM:61486 synonym: "DFNB98" NARROW ABBREVIATION [DOID:0110540, MONDO:Lexical, OMIM:614861] synonym: "TSPEAR autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110540 {source="MONDO:equivalentTo"} +xref: GARD:22644 {source="OMIM:614861"} xref: ICD10CM:H90.3 {source="DOID:0110540"} xref: OMIM:614861 {source="MONDO:equivalentTo", source="DOID:0110540"} xref: UMLS:C3553932 {source="OMIM:614861", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -278236,6 +286170,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013930 name: peroxisome biogenesis disorder 4A (Zellweger) +subset: gard_rare {source="GARD:15859"} synonym: "classic peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PBD4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614862] synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614862] @@ -278243,6 +286178,7 @@ synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [OMIM synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [OMIM:614862] synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [OMIM:614862] xref: DOID:0080479 {source="MONDO:equivalentTo"} +xref: GARD:15859 {source="OMIM:614862"} xref: MESH:C563301 {source="MONDO:equivalentTo"} xref: NCIT:C155754 {source="MONDO:equivalentTo"} xref: OMIM:614862 {source="MONDO:equivalentTo"} @@ -278260,10 +286196,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013931 name: peroxisome biogenesis disorder 4B +subset: gard_rare {source="GARD:15860"} synonym: "non-classic peroxisome biogenesis disorder" BROAD [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PBD4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614863] synonym: "peroxisome biogenesis disorder 4B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614863] synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4, OMIM:614863] +xref: GARD:15860 {source="OMIM:614863"} xref: NCIT:C155755 {source="MONDO:equivalentTo"} xref: OMIM:614863 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614863"} @@ -278280,12 +286218,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013932 name: peroxisome biogenesis disorder 5A (Zellweger) +subset: gard_rare {source="GARD:15861"} synonym: "PBD5A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614866] synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [OMIM:614866] synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [OMIM:614866] xref: DOID:0080480 {source="MONDO:equivalentTo"} +xref: GARD:15861 {source="OMIM:614866"} xref: NCIT:C155756 {source="MONDO:equivalentTo"} xref: OMIM:614866 {source="MONDO:equivalentTo"} xref: UMLS:C3539010 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614866"} @@ -278301,9 +286241,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013933 name: peroxisome biogenesis disorder 5B +subset: gard_rare {source="GARD:15862"} synonym: "PBD5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614867] synonym: "peroxisome biogenesis disorder 5B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614867] synonym: "peroxisome biogenesis disorder type 5B" EXACT [MONDORULE:4, OMIM:614867] +xref: GARD:15862 {source="OMIM:614867"} xref: NCIT:C155757 {source="MONDO:equivalentTo"} xref: OMIM:614867 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614867"} @@ -278320,6 +286262,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013934 name: combined immunodeficiency due to STK4 deficiency def: "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." [https://orcid.org/0000-0001-5208-3432, Orphanet:314689] +subset: gard_rare {source="GARD:17430"} subset: ordo_disease {source="Orphanet:314689"} synonym: "CID due to STK4 deficiency" EXACT [Orphanet:314689] synonym: "MST1 deficiency" EXACT [OMIM:614868] @@ -278327,6 +286270,7 @@ synonym: "STK4 deficiency" EXACT [OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [OMIM:614868, OMIM:genemap2] synonym: "TIIAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614868] +xref: GARD:17430 {source="Orphanet:314689"} xref: ICD10CM:D81.8 {source="Orphanet:314689", source="Orphanet:314689/attributed", source="Orphanet:314689/ntbt"} xref: OMIM:614868 {source="Orphanet:314689", source="MONDO:equivalentTo", source="Orphanet:314689/e"} xref: Orphanet:314689 {source="MONDO:equivalentTo", source="OMIM:614868"} @@ -278340,6 +286284,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013935 name: Usher syndrome type 1J def: "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15863"} synonym: "CIB2 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "USH1J" EXACT ABBREVIATION [DOID:0110836, MONDO:Lexical, OMIM:614869] synonym: "Usher syndrome caused by mutation in CIB2" EXACT [MONDO:design_pattern] @@ -278347,6 +286292,7 @@ synonym: "Usher syndrome type Ij" EXACT [DOID:0110836] synonym: "Usher syndrome, type 1J" RELATED [OMIM:614869] synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical, OMIM:614869] xref: DOID:0110836 {source="MONDO:equivalentTo"} +xref: GARD:15863 {source="OMIM:614869"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110836"} xref: OMIM:614869 {source="MONDO:equivalentTo", source="DOID:0110836"} xref: Orphanet:231169 {source="OMIM:614869"} @@ -278363,11 +286309,13 @@ property_value: confidence "2.4444444444444438" xsd:double [Term] id: MONDO:0013936 name: peroxisome biogenesis disorder 6A (Zellweger) +subset: gard_rare {source="GARD:15864"} synonym: "PBD6A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614870] synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614870] synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [OMIM:614870] synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [OMIM:614870] xref: DOID:0080481 {source="MONDO:equivalentTo"} +xref: GARD:15864 {source="OMIM:614870"} xref: MESH:C566422 {source="MONDO:equivalentTo"} xref: NCIT:C155758 {source="MONDO:equivalentTo"} xref: OMIM:614870 {source="MONDO:equivalentTo"} @@ -278383,9 +286331,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013937 name: peroxisome biogenesis disorder 6B +subset: gard_rare {source="GARD:15865"} synonym: "PBD6B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614871] synonym: "peroxisome biogenesis disorder 6B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614871] synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4, OMIM:614871] +xref: GARD:15865 {source="OMIM:614871"} xref: NCIT:C155759 {source="MONDO:equivalentTo"} xref: OMIM:614871 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614871"} @@ -278401,11 +286351,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013938 name: peroxisome biogenesis disorder 7A (Zellweger) +subset: gard_rare {source="GARD:15866"} synonym: "PBD7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614872] synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614872] synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [OMIM:614872] synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [OMIM:614872] xref: DOID:0080482 {source="MONDO:equivalentTo"} +xref: GARD:15866 {source="OMIM:614872"} xref: OMIM:614872 {source="MONDO:equivalentTo"} xref: UMLS:C3539168 {source="OMIM:614872", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3553950 {source="OMIM:614872", source="MONDO:notFoundInDiseaseSubset"} @@ -278420,9 +286372,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013939 name: peroxisome biogenesis disorder 7B +subset: gard_rare {source="GARD:15867"} synonym: "PBD7B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614873] synonym: "peroxisome biogenesis disorder 7B" EXACT [MONDO:Lexical, OMIM:614873] synonym: "peroxisome biogenesis disorder type 7B" EXACT [MONDORULE:4, OMIM:614873] +xref: GARD:15867 {source="OMIM:614873"} xref: NCIT:C155761 {source="MONDO:equivalentTo"} xref: OMIM:614873 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614873"} @@ -278438,6 +286392,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013940 name: primary ciliary dyskinesia 18 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15868"} synonym: "CILD18" EXACT ABBREVIATION [DOID:0110604, MONDO:Lexical, OMIM:614874] synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical, OMIM:614874] synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [OMIM:614874] @@ -278447,6 +286402,7 @@ synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in DNAAF5" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 18" EXACT [DOID:0110604, MONDORULE:2] xref: DOID:0110604 {source="MONDO:equivalentTo"} +xref: GARD:15868 {source="OMIM:614874"} xref: ICD10CM:Q34.8 {source="DOID:0110604"} xref: OMIM:614874 {source="DOID:0110604", source="MONDO:equivalentTo"} xref: UMLS:C3543825 {source="OMIM:614874", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -278459,11 +286415,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013941 name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria def: "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." [Orphanet:99646] +subset: gard_rare {source="GARD:16902"} subset: ordo_disease {source="Orphanet:99646"} synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [OMIM:614875] synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] +xref: GARD:16902 {source="Orphanet:99646"} xref: OMIM:614875 {source="Orphanet:99646", source="MONDO:equivalentTo", source="Orphanet:99646/e"} xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"} xref: UMLS:C3553958 {source="OMIM:614875", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -278477,11 +286435,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013942 name: peroxisome biogenesis disorder 8A (Zellweger) +subset: gard_rare {source="GARD:15869"} synonym: "PBD8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614876] synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614876] synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [OMIM:614876] synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [OMIM:614876] xref: DOID:0080483 {source="MONDO:equivalentTo"} +xref: GARD:15869 {source="OMIM:614876"} xref: OMIM:614876 {source="MONDO:equivalentTo"} xref: UMLS:C1863998 {source="OMIM:614876", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1863999 {source="OMIM:614876", source="MONDO:notFoundInDiseaseSubset"} @@ -278495,9 +286455,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013943 name: peroxisome biogenesis disorder 8B +subset: gard_rare {source="GARD:15870"} synonym: "PBD8B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614877] synonym: "peroxisome biogenesis disorder 8B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614877] synonym: "peroxisome biogenesis disorder type 8B" EXACT [MONDORULE:4, OMIM:614877] +xref: GARD:15870 {source="OMIM:614877"} xref: NCIT:C155763 {source="MONDO:equivalentTo"} xref: OMIM:614877 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614877"} @@ -278513,10 +286475,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013944 name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +subset: gard_rare {source="GARD:17486"} subset: ordo_disease {source="Orphanet:324530"} synonym: "APLAID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614878, Orphanet:324530] synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [OMIM:614878, OMIM:genemap2] synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878] +xref: GARD:17486 {source="Orphanet:324530"} xref: OMIM:614878 {source="Orphanet:324530/e", source="MONDO:equivalentTo", source="Orphanet:324530"} xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"} xref: UMLS:C3553961 {source="MONDO:equivalentTo", source="OMIM:614878", source="MONDO:ncbi_mim2gene_medline"} @@ -278528,6 +286492,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013945 name: peroxisome biogenesis disorder 9B +subset: gard_rare {source="GARD:15871"} synonym: "PBD9B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614879] synonym: "peroxisome biogenesis disorder 9B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614879] synonym: "peroxisome biogenesis disorder type 9B" EXACT [MONDORULE:4, OMIM:614879] @@ -278535,6 +286500,7 @@ synonym: "peroxisome biogenesis disorder, complementation group 11" RELATED [OMI synonym: "peroxisome biogenesis disorder, complementation group R" RELATED [OMIM:614879] synonym: "peroxisome biogenesis disorder, PEX7-related, atypical" RELATED [OMIM:614879] synonym: "Refsum disease, adult, 2" RELATED [OMIM:614879] +xref: GARD:15871 {source="OMIM:614879"} xref: OMIM:614879 {source="MONDO:equivalentTo"} xref: Orphanet:773 {source="OMIM:614879"} xref: UMLS:C1866351 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614879"} @@ -278553,11 +286519,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013946 name: hypogonadotropic hypogonadism 15 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15872"} synonym: "HH15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614880] synonym: "HS6ST1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614880] synonym: "hypogonadotropic hypogonadism caused by mutation in HS6ST1" EXACT [MONDO:design_pattern] xref: DOID:0090075 {source="MONDO:equivalentTo"} +xref: GARD:15872 {source="OMIM:614880"} xref: OMIM:614880 {source="DOID:0090075", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="OMIM:614880"} xref: UMLS:C3553977 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614880"} @@ -278572,6 +286540,7 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013947 name: neuronopathy, distal hereditary motor, autosomal recessive 5 def: "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." [Orphanet:314485] +subset: gard_rare {source="GARD:18443", source="GARD:17421"} subset: ordo_disease {source="Orphanet:314485"} synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [Orphanet:314485] synonym: "DSMA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614881] @@ -278581,6 +286550,8 @@ synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [M synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485] synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [Orphanet:314485] xref: DOID:0111214 {source="MONDO:equivalentTo"} +xref: GARD:17421 {source="Orphanet:314485"} +xref: GARD:18443 {source="OMIM:614881"} xref: ICD10CM:G12.2 {source="Orphanet:314485/attributed", source="Orphanet:314485/ntbt", source="Orphanet:314485"} xref: OMIM:614881 {source="Orphanet:314485/e", source="MONDO:equivalentTo", source="Orphanet:314485"} xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"} @@ -278593,11 +286564,13 @@ property_value: confidence "12.437500000000002" xsd:double [Term] id: MONDO:0013948 name: peroxisome biogenesis disorder 10A (Zellweger) +subset: gard_rare {source="GARD:15873"} synonym: "PBD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614882] synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614882] synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [OMIM:614882] synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [OMIM:614882] xref: DOID:0080484 {source="MONDO:equivalentTo"} +xref: GARD:15873 {source="OMIM:614882"} xref: OMIM:614882 {source="MONDO:equivalentTo"} xref: Orphanet:912 {source="OMIM:614882"} xref: UMLS:C1864171 {source="OMIM:614882", source="MONDO:notFoundInDiseaseSubset"} @@ -278612,11 +286585,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013949 name: peroxisome biogenesis disorder 11A (Zellweger) +subset: gard_rare {source="GARD:15874"} synonym: "PBD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614883] synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614883] synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [OMIM:614883] synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [OMIM:614883] xref: DOID:0080485 {source="MONDO:equivalentTo"} +xref: GARD:15874 {source="OMIM:614883"} xref: OMIM:614883 {source="MONDO:equivalentTo"} xref: UMLS:C1866259 {source="OMIM:614883", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1866260 {source="OMIM:614883", source="MONDO:notFoundInDiseaseSubset"} @@ -278630,9 +286605,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013950 name: peroxisome biogenesis disorder 11B +subset: gard_rare {source="GARD:15875"} synonym: "PBD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614885] synonym: "peroxisome biogenesis disorder 11B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614885] synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4, OMIM:614885] +xref: GARD:15875 {source="OMIM:614885"} xref: OMIM:614885 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614885"} xref: Orphanet:772 {source="OMIM:614885"} @@ -278647,6 +286624,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013951 name: peroxisome biogenesis disorder 12A (Zellweger) +subset: gard_rare {source="GARD:15876"} synonym: "Cg14" RELATED [OMIM:614886] synonym: "Cgj" RELATED [OMIM:614886] synonym: "PBD12A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614886] @@ -278654,6 +286632,7 @@ synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT CLINGEN_PREFERRE synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [OMIM:614886] synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [OMIM:614886] xref: DOID:0080486 {source="MONDO:equivalentTo"} +xref: GARD:15876 {source="OMIM:614886"} xref: OMIM:614886 {source="MONDO:equivalentTo"} xref: UMLS:C1838299 {source="OMIM:614886", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1838300 {source="OMIM:614886", source="MONDO:notFoundInDiseaseSubset"} @@ -278669,10 +286648,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013952 name: peroxisome biogenesis disorder 13A (Zellweger) +subset: gard_rare {source="GARD:15877"} synonym: "PBD13A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614887] synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614887] synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [OMIM:614887] xref: DOID:0080487 {source="MONDO:equivalentTo"} +xref: GARD:15877 {source="OMIM:614887"} xref: MESH:C566624 {source="MONDO:equivalentTo"} xref: OMIM:614887 {source="MONDO:equivalentTo"} xref: UMLS:C1866257 {source="OMIM:614887", source="MONDO:notFoundInDiseaseSubset"} @@ -278710,6 +286691,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013954 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:12976"} subset: ordo_disease {source="Orphanet:319558"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" EXACT [] @@ -278723,6 +286705,7 @@ synonym: "Mendelian susceptibility to mycobacterial diseases due to complete int synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] xref: DOID:0111950 {source="MONDO:equivalentTo"} +xref: GARD:12976 {source="Orphanet:319558"} xref: ICD10CM:D84.8 {source="Orphanet:319558/attributed", source="Orphanet:319558/ntbt", source="Orphanet:319558"} xref: OMIM:614890 {source="Orphanet:319558/e", source="MONDO:equivalentTo", source="Orphanet:319558"} xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"} @@ -278736,6 +286719,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013955 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10984"} subset: ordo_disease {source="Orphanet:319552"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" EXACT [] @@ -278750,6 +286734,7 @@ synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 defic synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] xref: DOID:0111990 {source="MONDO:equivalentTo"} +xref: GARD:10984 {source="Orphanet:319552"} xref: ICD10CM:D84.8 {source="Orphanet:319552", source="Orphanet:319552/attributed", source="Orphanet:319552/ntbt"} xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="Orphanet:319552/e"} xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"} @@ -278762,6 +286747,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013956 name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." [https://orcid.org/0000-0001-5208-3432, Orphanet:319595] +subset: gard_rare {source="GARD:17462"} subset: ordo_disease {source="Orphanet:319595"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1" EXACT [] @@ -278775,6 +286761,7 @@ synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595] synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892] xref: DOID:0111945 {source="MONDO:equivalentTo"} +xref: GARD:17462 {source="Orphanet:319595"} xref: ICD10CM:D84.8 {source="Orphanet:319595", source="Orphanet:319595/attributed", source="Orphanet:319595/ntbt"} xref: OMIM:614892 {source="MONDO:equivalentTo", source="Orphanet:319595", source="Orphanet:319595/e"} xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"} @@ -278788,6 +286775,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013957 name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency def: "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319600] +subset: gard_rare {source="GARD:17463"} subset: ordo_disease {source="Orphanet:319600"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8" EXACT [] @@ -278802,6 +286790,7 @@ synonym: "Mendelian susceptibility to mycobacterial diseases due to partial inte synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600] xref: DOID:0111986 {source="MONDO:equivalentTo"} +xref: GARD:17463 {source="Orphanet:319600"} xref: ICD10CM:D84.8 {source="Orphanet:319600/attributed", source="Orphanet:319600/ntbt", source="Orphanet:319600"} xref: OMIM:614893 {source="Orphanet:319600/e", source="MONDO:equivalentTo", source="Orphanet:319600"} xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"} @@ -278822,7 +286811,7 @@ replaced_by: MONDO:0009194 id: MONDO:0013959 name: Charcot-Marie-Tooth disease type 4F def: "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." [Orphanet:99952] -subset: gard_rare {source="GARD:0012441"} +subset: gard_rare {source="GARD:12441"} subset: ordo_disease {source="Orphanet:99952"} synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" EXACT [] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" EXACT [MONDO:design_pattern] @@ -278832,6 +286821,7 @@ synonym: "CMT4F" EXACT ABBREVIATION [DOID:0110193, MONDO:Lexical, OMIM:614895, O synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110193 {source="MONDO:equivalentTo"} +xref: GARD:12441 {source="Orphanet:99952"} xref: ICD10CM:G60.0 {source="Orphanet:99952/attributed", source="Orphanet:99952/ntbt", source="Orphanet:99952", source="DOID:0110193"} xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="Orphanet:99952/e"} xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"} @@ -278850,9 +286840,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12441/charco id: MONDO:0013960 name: sinoatrial node dysfunction and deafness def: "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." [Orphanet:324321] +subset: gard_rare {source="GARD:17484"} subset: ordo_disease {source="Orphanet:324321"} synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614896] synonym: "sinoatrial node dysfunction and deafness" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614896] +xref: GARD:17484 {source="Orphanet:324321"} xref: OMIM:614896 {source="Orphanet:324321/e", source="MONDO:equivalentTo", source="Orphanet:324321"} xref: Orphanet:324321 {source="OMIM:614896", source="MONDO:equivalentTo"} xref: UMLS:C3554018 {source="OMIM:614896", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -278864,11 +286856,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013961 name: hypogonadotropic hypogonadism 16 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15878"} synonym: "HH16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614897] synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614897] synonym: "hypogonadotropic hypogonadism caused by mutation in SEMA3A" EXACT [MONDO:design_pattern] synonym: "SEMA3A hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090080 {source="MONDO:equivalentTo"} +xref: GARD:15878 {source="OMIM:614897"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090080"} xref: OMIM:614897 {source="MONDO:equivalentTo", source="DOID:0090080"} xref: UMLS:C3554021 {source="OMIM:614897", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -278883,6 +286877,7 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0013962 name: hereditary spastic paraplegia 53 def: "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." [Orphanet:319199] +subset: gard_rare {source="GARD:17445"} subset: ordo_disease {source="Orphanet:319199"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805] @@ -278893,6 +286888,7 @@ synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG53" EXACT ABBREVIATION [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199] synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110805 {source="MONDO:equivalentTo"} +xref: GARD:17445 {source="Orphanet:319199"} xref: ICD10CM:G11.4 {source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/attributed", source="Orphanet:319199/ntbt"} xref: OMIM:614898 {source="MONDO:equivalentTo", source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/e"} xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source="DOID:0110805"} @@ -278909,6 +286905,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013963 name: autosomal recessive nonsyndromic hearing loss 93 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22645"} synonym: "autosomal recessive deafness 93" NARROW [DOID:0110537] synonym: "autosomal recessive nonsyndromic deafness 93" NARROW CLINGEN_PREFERRED [OMIM:614899] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" NARROW [MONDO:design_pattern] @@ -278918,6 +286915,7 @@ synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical, OMIM:614899, synonym: "deafness, autosomal recessive type 93" NARROW [MONDORULE:2, OMIM:614899] synonym: "DFNB93" NARROW ABBREVIATION [DOID:0110537, MONDO:Lexical, OMIM:614899] xref: DOID:0110537 {source="MONDO:equivalentTo"} +xref: GARD:22645 {source="OMIM:614899"} xref: ICD10CM:H90.3 {source="DOID:0110537"} xref: OMIM:614899 {source="DOID:0110537", source="MONDO:equivalentTo"} xref: UMLS:C3470075 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614899"} @@ -278933,6 +286931,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013964 name: Diamond-Blackfan anemia 11 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15879"} synonym: "DBA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614900] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL26" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 11" EXACT OMO:0003005 [] @@ -278942,6 +286941,7 @@ synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900] synonym: "RPL26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111892 {source="MONDO:equivalentTo"} +xref: GARD:15879 {source="OMIM:614900"} xref: NCIT:C176920 {source="MONDO:equivalentTo"} xref: OMIM:614900 {source="MONDO:equivalentTo"} xref: UMLS:C3554042 {source="MONDO:equivalentTo", source="OMIM:614900", source="MONDO:ncbi_mim2gene_medline"} @@ -278954,13 +286954,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013965 name: lethal congenital contracture syndrome 4 def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." [MONDO:design_pattern] -subset: gard_rare {source="GARD:0012645"} +subset: gard_rare {source="GARD:12645"} synonym: "LCCS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614915] synonym: "lethal congenital contracture syndrome 4" EXACT [MONDO:Lexical, OMIM:614915] synonym: "lethal congenital contracture syndrome caused by mutation in MYBPC1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 4" EXACT [DOID:0060654, MONDORULE:1, OMIM:614915] synonym: "MYBPC1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060654 {source="MONDO:equivalentTo"} +xref: GARD:12645 {source="OMIM:614915"} xref: OMIM:614915 {source="MONDO:equivalentTo"} xref: Orphanet:137783 {source="OMIM:614915", source="MONDO:directSiblingOf"} xref: UMLS:C3554046 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614915"} @@ -278974,6 +286975,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12645/lethal id: MONDO:0013966 name: catecholaminergic polymorphic ventricular tachycardia 4 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15880"} synonym: "CALM1 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "catecholaminergic polymorphic ventricular tachycardia 4" EXACT CLINGEN_PREFERRED [] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1" EXACT [MONDO:design_pattern] @@ -278983,6 +286985,7 @@ synonym: "CVPT4" EXACT ABBREVIATION [DOID:0060678] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4" RELATED [MONDO:Lexical, OMIM:614916] synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 4" EXACT [MONDORULE:1, OMIM:614916] xref: DOID:0060678 {source="MONDO:equivalentTo"} +xref: GARD:15880 {source="OMIM:614916"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060678"} xref: OMIM:614916 {source="MONDO:equivalentTo", source="DOID:0060678"} xref: Orphanet:3286 {source="OMIM:614916"} @@ -278995,11 +286998,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013967 name: peroxisome biogenesis disorder 14B +subset: gard_rare {source="GARD:15881"} synonym: "peroxisome biogenesis disorder 14B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614920] synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920] synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PEX14B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614920] xref: DOID:0081274 {source="MONDO:equivalentTo"} +xref: GARD:15881 {source="OMIM:614920"} xref: OMIM:614920 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614920"} xref: Orphanet:772 {source="OMIM:614920"} @@ -279015,6 +287020,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013968 name: PGM1-congenital disorder of glycosylation +subset: gard_rare {source="GARD:4329"} subset: ordo_disease {source="Orphanet:319646"} synonym: "CDG it" RELATED [OMIM:614921] synonym: "CDG syndrome type It" EXACT [Orphanet:319646] @@ -279036,6 +287042,7 @@ synonym: "phosphoglucomutase deficiency type 1" RELATED [GARD:0004329] synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646] synonym: "type 14 glycogenosis" RELATED [GARD:0004329] xref: DOID:0080570 {source="MONDO:equivalentTo"} +xref: GARD:4329 {source="Orphanet:319646"} xref: ICD10CM:E77.8 {source="Orphanet:319646/attributed", source="Orphanet:319646/ntbt", source="Orphanet:319646"} xref: MESH:C567859 {source="MONDO:equivalentTo"} xref: OMIM:614921 {source="Orphanet:319646/e", source="MONDO:equivalentTo", source="Orphanet:319646"} @@ -279055,6 +287062,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013969 name: combined oxidative phosphorylation defect type 11 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17487"} subset: ordo_disease {source="Orphanet:324535"} synonym: "combined oxidative phosphorylation defect type 11" EXACT CLINGEN_PREFERRED [] synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922] @@ -279064,6 +287072,7 @@ synonym: "COXPD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614922, Orphanet:3245 synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922] synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111481 {source="MONDO:equivalentTo"} +xref: GARD:17487 {source="Orphanet:324535"} xref: ICD10CM:G31.8 {source="Orphanet:324535/attributed", source="Orphanet:324535/ntbt", source="Orphanet:324535"} xref: OMIM:614922 {source="Orphanet:324535", source="MONDO:equivalentTo", source="Orphanet:324535/e"} xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"} @@ -279079,6 +287088,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013970 name: branched-chain keto acid dehydrogenase kinase deficiency def: "A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." [https://orcid.org/0000-0001-5208-3432, Orphanet:308410] +subset: gard_rare {source="GARD:17389"} subset: ordo_disease {source="Orphanet:308410"} synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [DOID:0090126] synonym: "BCKDK deficiency" EXACT [DOID:0090126] @@ -279087,6 +287097,7 @@ synonym: "BCKDKD" EXACT ABBREVIATION [DOID:0090126, MONDO:Lexical, OMIM:614923] synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [OMIM:614923] synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614923] xref: DOID:0090126 {source="MONDO:equivalentTo"} +xref: GARD:17389 {source="Orphanet:308410"} xref: ICD10CM:E71.1 {source="DOID:0090126", source="Orphanet:308410/attributed", source="Orphanet:308410/ntbt", source="Orphanet:308410"} xref: OMIM:614923 {source="Orphanet:308410/e", source="MONDO:equivalentTo", source="DOID:0090126", source="Orphanet:308410"} xref: Orphanet:308410 {source="MONDO:equivalentTo", source="DOID:0090126", source="OMIM:614923"} @@ -279102,6 +287113,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013971 name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome def: "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." [Orphanet:314051] +subset: gard_rare {source="GARD:12893"} subset: ordo_disease {source="Orphanet:314051"} synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051] synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924] @@ -279113,6 +287125,7 @@ synonym: "leukoencephalopathy with thalamus and brainstem involvement and high l synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT CLINGEN_PREFERRED [] synonym: "LTBL" EXACT ABBREVIATION [Orphanet:314051] xref: DOID:0111493 {source="MONDO:equivalentTo"} +xref: GARD:12893 {source="Orphanet:314051"} xref: OMIM:614924 {source="MONDO:equivalentTo", source="Orphanet:314051", source="Orphanet:314051/e"} xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"} xref: SCTID:763366000 {source="MONDO:equivalentTo"} @@ -279129,11 +287142,13 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013972 name: Perrault syndrome 2 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15882"} synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614926] synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926, Orphanet:642976] synonym: "PRLTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614926] +xref: GARD:15882 {source="OMIM:614926"} xref: OMIM:614926 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:614926"} xref: Orphanet:642976 {source="MONDO:equivalentTo"} @@ -279148,9 +287163,11 @@ property_value: confidence "1.4822000130642108" xsd:double [Term] id: MONDO:0013973 name: ectodermal dysplasia 5, hair/nail type +subset: gard_rare {source="GARD:18063"} synonym: "ECTD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614927] synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [MONDO:Lexical, OMIM:614927] xref: DOID:0111657 {source="MONDO:equivalentTo"} +xref: GARD:18063 {source="OMIM:614927"} xref: OMIM:614927 {source="MONDO:equivalentTo"} xref: UMLS:C3554108 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614927"} is_a: MONDO:0019287 {source="DC-OMIM:614927", source="OMIM:614927"} ! ectodermal dysplasia syndrome @@ -279158,9 +287175,11 @@ is_a: MONDO:0019287 {source="DC-OMIM:614927", source="OMIM:614927"} ! ectodermal [Term] id: MONDO:0013974 name: ectodermal dysplasia 6, hair/nail type +subset: gard_rare {source="GARD:18064"} synonym: "ECTD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614928] synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [MONDO:Lexical, OMIM:614928] xref: DOID:0111659 {source="MONDO:equivalentTo"} +xref: GARD:18064 {source="OMIM:614928"} xref: OMIM:614928 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614928"} xref: UMLS:C3554111 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614928"} @@ -279172,11 +287191,13 @@ property_value: confidence "3.3790228975414154" xsd:double id: MONDO:0013975 name: ectodermal dysplasia 7, hair/nail type def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18065"} synonym: "ECTD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614929] synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [MONDO:Lexical, OMIM:614929] synonym: "KRT74 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT74" EXACT [MONDO:design_pattern] xref: DOID:0111660 {source="MONDO:equivalentTo"} +xref: GARD:18065 {source="OMIM:614929"} xref: OMIM:614929 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614929"} xref: UMLS:C3554117 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614929"} @@ -279191,11 +287212,13 @@ property_value: confidence "3.3790228975414154" xsd:double id: MONDO:0013976 name: ectodermal dysplasia 9, hair/nail type def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18066"} synonym: "ECTD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614931] synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [MONDO:Lexical, OMIM:614931] synonym: "HOXC13 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13" EXACT [MONDO:design_pattern] xref: DOID:0111656 {source="MONDO:equivalentTo"} +xref: GARD:18066 {source="OMIM:614931"} xref: OMIM:614931 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614931"} xref: UMLS:C3554127 {source="OMIM:614931", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -279210,6 +287233,7 @@ property_value: confidence "3.3790228975414154" xsd:double id: MONDO:0013977 name: combined oxidative phosphorylation defect type 13 def: "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." [Orphanet:319514] +subset: gard_rare {source="GARD:17454"} subset: ordo_disease {source="Orphanet:319514"} synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932] synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern] @@ -279217,6 +287241,7 @@ synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORUL synonym: "COXPD13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614932, Orphanet:319514] synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111467 {source="MONDO:equivalentTo"} +xref: GARD:17454 {source="Orphanet:319514"} xref: ICD10CM:G71.3 {source="Orphanet:319514/attributed", source="Orphanet:319514/ntbt", source="Orphanet:319514"} xref: OMIM:614932 {source="Orphanet:319514/e", source="MONDO:equivalentTo", source="Orphanet:319514"} xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"} @@ -279233,6 +287258,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013978 name: autosomal recessive nonsyndromic hearing loss 70 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22646"} synonym: "autosomal recessive deafness 70" NARROW [DOID:0110521] synonym: "autosomal recessive nonsyndromic deafness 70" NARROW [OMIM:614934] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" NARROW [MONDO:design_pattern] @@ -279242,6 +287268,7 @@ synonym: "deafness, autosomal recessive type 70" NARROW [MONDORULE:2, OMIM:61493 synonym: "DFNB70" NARROW ABBREVIATION [DOID:0110521, MONDO:Lexical, OMIM:614934] synonym: "PNPT1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110521 {source="MONDO:equivalentTo"} +xref: GARD:22646 {source="OMIM:614934"} xref: ICD10CM:H90.3 {source="DOID:0110521"} xref: OMIM:614934 {source="MONDO:equivalentTo", source="DOID:0110521"} xref: UMLS:C1824925 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614934"} @@ -279256,6 +287283,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013979 name: primary ciliary dyskinesia 19 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15883"} synonym: "CILD19" EXACT ABBREVIATION [DOID:0110608, MONDO:Lexical, OMIM:614935] synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical, OMIM:614935] synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [OMIM:614935] @@ -279266,6 +287294,7 @@ synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in LRRC6" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 19" EXACT [DOID:0110608, MONDORULE:2] xref: DOID:0110608 {source="MONDO:equivalentTo"} +xref: GARD:15883 {source="OMIM:614935"} xref: ICD10CM:Q34.8 {source="DOID:0110608"} xref: OMIM:614935 {source="MONDO:equivalentTo", source="DOID:0110608"} xref: UMLS:C3543826 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614935"} @@ -279277,9 +287306,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013980 name: palmoplantar keratoderma, punctate type ib +subset: gard_rare {source="GARD:15884"} synonym: "keratoderma, palmoplantar, punctate type IB" EXACT [OMIM:614936, OMIM:genemap2] synonym: "palmoplantar keratoderma, punctate type IB" RELATED [MONDO:Lexical, OMIM:614936] synonym: "PPKP1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614936] +xref: GARD:15884 {source="OMIM:614936"} xref: OMIM:614936 {source="MONDO:equivalentTo"} xref: Orphanet:79501 {source="OMIM:614936"} xref: UMLS:C3554145 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614936"} @@ -279291,11 +287322,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013981 name: myoclonus, familial def: "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." [Orphanet:319189] +subset: gard_rare {source="GARD:17444"} subset: ordo_disease {source="Orphanet:319189"} synonym: "familial cortical myoclonus" EXACT [OMIM:614937] synonym: "familial myoclonus" EXACT [OMIMPS:614937] synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614937] synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical, OMIM:614937] +xref: GARD:17444 {source="Orphanet:319189"} xref: ICD10CM:G25.3 {source="Orphanet:319189", source="Orphanet:319189/attributed", source="Orphanet:319189/ntbt"} xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="Orphanet:319189/e"} xref: Orphanet:319189 {source="MONDO:equivalentTo", source="OMIM:614937"} @@ -279308,10 +287341,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013982 name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +subset: gard_rare {source="GARD:18592"} synonym: "ECTD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614940] synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614940] synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:614940] xref: DOID:0111653 {source="MONDO:equivalentTo"} +xref: GARD:18592 {source="OMIM:614940"} xref: OMIM:614940 {source="MONDO:equivalentTo"} xref: Orphanet:1810 {source="OMIM:614940"} xref: Orphanet:238468 {source="OMIM:614940"} @@ -279324,11 +287359,13 @@ property_value: confidence "1.013902333975493" xsd:double [Term] id: MONDO:0013983 name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +subset: gard_rare {source="GARD:15885"} synonym: "ECTD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614941] synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614941] synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:614941] synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:614941] xref: DOID:0111654 {source="MONDO:equivalentTo"} +xref: GARD:15885 {source="OMIM:614941"} xref: OMIM:614941 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="OMIM:614941"} xref: Orphanet:248 {source="OMIM:614941"} @@ -279342,6 +287379,7 @@ property_value: confidence "1.013902333975493" xsd:double id: MONDO:0013984 name: autosomal recessive nonsyndromic hearing loss 84B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22647"} synonym: "autosomal recessive deafness 84B" NARROW [DOID:0110530] synonym: "autosomal recessive nonsyndromic deafness 84B" NARROW CLINGEN_PREFERRED [OMIM:614944] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL" NARROW [MONDO:design_pattern] @@ -279352,6 +287390,7 @@ synonym: "deafness, autosomal recessive type 84B" NARROW [MONDORULE:4, OMIM:6149 synonym: "DFNB84B" NARROW ABBREVIATION [DOID:0110530, MONDO:Lexical, OMIM:614944] synonym: "OTOGL autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110530 {source="MONDO:equivalentTo"} +xref: GARD:22647 {source="OMIM:614944"} xref: ICD10CM:H90.3 {source="DOID:0110530"} xref: OMIM:614944 {source="MONDO:equivalentTo", source="DOID:0110530"} xref: UMLS:C3554159 {source="MONDO:equivalentTo", source="OMIM:614944", source="MONDO:ncbi_mim2gene_medline"} @@ -279366,6 +287405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013985 name: autosomal recessive nonsyndromic hearing loss 18B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22648"} synonym: "autosomal recessive deafness 18B" NARROW [DOID:0110474] synonym: "autosomal recessive nonsyndromic deafness 18B" NARROW CLINGEN_PREFERRED [OMIM:614945] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" NARROW [MONDO:design_pattern] @@ -279376,6 +287416,7 @@ synonym: "deafness, autosomal recessive type 18B" NARROW [MONDORULE:4, OMIM:6149 synonym: "DFNB18B" NARROW ABBREVIATION [DOID:0110474, MONDO:Lexical, OMIM:614945] synonym: "OTOG autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110474 {source="MONDO:equivalentTo"} +xref: GARD:22648 {source="OMIM:614945"} xref: ICD10CM:H90.3 {source="DOID:0110474"} xref: OMIM:614945 {source="MONDO:equivalentTo", source="DOID:0110474"} xref: UMLS:C3554163 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614945"} @@ -279390,6 +287431,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013986 name: combined oxidative phosphorylation defect type 14 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17455"} subset: ordo_disease {source="Orphanet:319519"} synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946] synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern] @@ -279397,6 +287439,7 @@ synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORUL synonym: "COXPD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614946, Orphanet:319519] synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111477 {source="MONDO:equivalentTo"} +xref: GARD:17455 {source="Orphanet:319519"} xref: ICD10CM:E88.8 {source="Orphanet:319519/attributed", source="Orphanet:319519/ntbt", source="Orphanet:319519"} xref: OMIM:614946 {source="Orphanet:319519", source="MONDO:equivalentTo", source="Orphanet:319519/e"} xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"} @@ -279412,6 +287455,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013987 name: combined oxidative phosphorylation defect type 15 def: "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." [Orphanet:319524] +subset: gard_rare {source="GARD:17456"} subset: ordo_disease {source="Orphanet:319524"} synonym: "combined oxidative phosphorylation defect type 15" EXACT CLINGEN_PREFERRED [] synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947] @@ -279420,6 +287464,7 @@ synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORUL synonym: "COXPD15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614947, Orphanet:319524] synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111491 {source="MONDO:equivalentTo"} +xref: GARD:17456 {source="Orphanet:319524"} xref: ICD10CM:G31.8 {source="Orphanet:319524/attributed", source="Orphanet:319524/ntbt", source="Orphanet:319524"} xref: OMIM:614947 {source="Orphanet:319524/e", source="MONDO:equivalentTo", source="Orphanet:319524"} xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"} @@ -279449,6 +287494,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013989 name: developmental and epileptic encephalopathy, 14 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15886"} synonym: "DEE14" EXACT ABBREVIATION [OMIM:614959] synonym: "developmental and epileptic encephalopathy 14" EXACT [OMIM:614959, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] @@ -279457,6 +287503,7 @@ synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959] synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080439 {source="MONDO:equivalentTo"} +xref: GARD:15886 {source="OMIM:614959"} xref: OMIM:614959 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:614959"} xref: UMLS:C3554195 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614959"} @@ -279471,6 +287518,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013990 name: pontocerebellar hypoplasia type 8 def: "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." [Orphanet:324569] +subset: gard_rare {source="GARD:17488"} subset: ordo_malformation_syndrome {source="Orphanet:324569"} synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern] @@ -279479,6 +287527,7 @@ synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324 synonym: "pontocerebellar hypoplasia type 8" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961] xref: DOID:0060277 {source="MONDO:equivalentTo"} +xref: GARD:17488 {source="Orphanet:324569"} xref: ICD10CM:Q04.3 {source="Orphanet:324569/attributed", source="Orphanet:324569/ntbt", source="DOID:0060277", source="Orphanet:324569"} xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="MONDO:equivalentTo", source="Orphanet:324569/e"} xref: Orphanet:324569 {source="DOID:0060277", source="OMIM:614961", source="MONDO:equivalentTo"} @@ -279494,13 +287543,14 @@ property_value: confidence "229.00000000000284" xsd:double id: MONDO:0013991 name: obesity due to congenital leptin deficiency def: "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia." [Orphanet:66628] -subset: gard_rare {source="GARD:0013015"} +subset: gard_rare {source="GARD:13015"} subset: ordo_disease {source="Orphanet:66628"} synonym: "LEPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614962] synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical, OMIM:614962] synonym: "obesity, morbid, due to leptin deficiency" EXACT [OMIM:614962, OMIM:genemap2] synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962] xref: DOID:0111334 {source="MONDO:equivalentTo"} +xref: GARD:13015 {source="Orphanet:66628"} xref: ICD10CM:E66.8 {source="Orphanet:66628", source="Orphanet:66628/attributed", source="Orphanet:66628/ntbt"} xref: OMIM:614962 {source="MONDO:equivalentTo", source="Orphanet:66628", source="Orphanet:66628/e"} xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"} @@ -279519,11 +287569,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13015/obesit [Term] id: MONDO:0013992 name: obesity due to leptin receptor gene deficiency +subset: gard_rare {source="GARD:17083"} subset: ordo_disease {source="Orphanet:179494"} synonym: "leptin receptor deficiency" RELATED [OMIM:614963] synonym: "obesity due to leptin receptor gene deficiency" EXACT CLINGEN_PREFERRED [] synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963, OMIM:genemap2] synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963] +xref: GARD:17083 {source="Orphanet:179494"} xref: ICD10CM:E66.8 {source="Orphanet:179494/attributed", source="Orphanet:179494/ntbt", source="Orphanet:179494"} xref: NCIT:C120386 {source="MONDO:equivalentTo"} xref: OMIM:614963 {source="Orphanet:179494/e", source="MONDO:equivalentTo", source="Orphanet:179494"} @@ -279541,6 +287593,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013993 name: pontocerebellar hypoplasia type 7 def: "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." [Orphanet:284339] +subset: gard_rare {source="GARD:17315"} subset: ordo_malformation_syndrome {source="Orphanet:284339"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern] synonym: "PCH7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614969, Orphanet:284339] @@ -279548,6 +287601,7 @@ synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:61496 synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339] synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060276 {source="MONDO:equivalentTo"} +xref: GARD:17315 {source="Orphanet:284339"} xref: ICD10CM:Q04.3 {source="DOID:0060276", source="Orphanet:284339/attributed", source="Orphanet:284339/ntbt", source="Orphanet:284339"} xref: OMIM:614969 {source="Orphanet:284339/e", source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339"} xref: Orphanet:284339 {source="DOID:0060276", source="MONDO:equivalentTo", source="OMIM:614969"} @@ -279563,12 +287617,14 @@ property_value: confidence "6.000000000000003" xsd:double id: MONDO:0013994 name: Joubert syndrome 20 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15887"} synonym: "JBTS20" EXACT ABBREVIATION [DOID:0110989, MONDO:Lexical, OMIM:614970] synonym: "Joubert syndrome 20" EXACT [MONDO:Lexical, OMIM:614970] synonym: "Joubert syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 20" EXACT [DOID:0110989, MONDORULE:2, OMIM:614970] synonym: "TMEM231 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110989 {source="MONDO:equivalentTo"} +xref: GARD:15887 {source="OMIM:614970"} xref: OMIM:614970 {source="DOID:0110989", source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="OMIM:614970"} xref: Orphanet:475 {source="OMIM:614970"} @@ -279583,11 +287639,13 @@ property_value: confidence "0.7367352941176466" xsd:double [Term] id: MONDO:0013995 name: cholestasis, intrahepatic, of pregnancy, 3 +subset: gard_rare {source="GARD:15888"} synonym: "cholestasis, intrahepatic, of pregnancy 3" EXACT [MONDO:Lexical, OMIM:614972] synonym: "cholestasis, intrahepatic, of pregnancy type 3" EXACT [MONDORULE:1, OMIM:614972] synonym: "ICP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614972] xref: DOID:0070229 {source="MONDO:equivalentTo"} xref: EFO:0009150 {source="MONDO:equivalentTo"} +xref: GARD:15888 {source="OMIM:614972"} xref: OMIM:614972 {source="MONDO:equivalentTo"} xref: Orphanet:69665 {source="OMIM:614972"} xref: UMLS:C3554241 {source="OMIM:614972", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -279601,11 +287659,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013996 name: focal facial dermal dysplasia type II def: "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." [Orphanet:398173] +subset: gard_rare {source="GARD:17649"} subset: ordo_clinical_subtype {source="Orphanet:398173"} synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973] synonym: "FFDD type II" EXACT [Orphanet:398173] synonym: "FFDD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614973, Orphanet:398173] synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173] +xref: GARD:17649 {source="Orphanet:398173"} xref: ICD10CM:Q82.8 {source="Orphanet:398173/attributed", source="Orphanet:398173/ntbt", source="Orphanet:398173"} xref: OMIM:614973 {source="Orphanet:398173/e", source="MONDO:equivalentTo", source="Orphanet:398173"} xref: Orphanet:398166 {source="OMIM:614973"} @@ -279620,12 +287680,14 @@ property_value: confidence "0.440329218106996" xsd:double id: MONDO:0013997 name: focal facial dermal dysplasia type IV def: "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." [Orphanet:398189] +subset: gard_rare {source="GARD:17650"} subset: ordo_clinical_subtype {source="Orphanet:398189"} synonym: "FFDD type IV" EXACT [Orphanet:398189] synonym: "FFDD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974] synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189] +xref: GARD:17650 {source="Orphanet:398189"} xref: ICD10CM:Q82.8 {source="Orphanet:398189/attributed", source="Orphanet:398189/ntbt", source="Orphanet:398189"} xref: OMIM:614974 {source="Orphanet:398189", source="MONDO:equivalentTo", source="Orphanet:398189/e"} xref: Orphanet:398166 {source="OMIM:614974"} @@ -279639,12 +287701,14 @@ property_value: confidence "0.440329218106996" xsd:double id: MONDO:0013998 name: MEGF8-related Carpenter syndrome def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15889"} synonym: "CARPENTER syndrome 2" RELATED [OMIM:614976] synonym: "Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:614976] synonym: "Carpenter syndrome caused by mutation in MEGF8" EXACT [MONDO:design_pattern] synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:614976] synonym: "CRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614976] synonym: "MEGF8 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15889 {source="OMIM:614976"} xref: OMIM:614976 {source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="OMIM:614976"} xref: UMLS:C3554247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614976"} @@ -279660,9 +287724,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013999 name: optic nerve edema-splenomegaly syndrome def: "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." [Orphanet:313800] +subset: gard_rare {source="GARD:17411"} subset: ordo_disease {source="Orphanet:313800"} synonym: "ROSAH syndrome" EXACT [OMIM:614979, OMIM:genemap2] synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979] +xref: GARD:17411 {source="Orphanet:313800"} xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source="Orphanet:313800/e"} xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"} xref: UMLS:C3554278 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614979"} @@ -279697,10 +287763,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014001 name: Usher syndrome type 1K def: "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." [DOID:0110837, PMID:22718019] +subset: gard_rare {source="GARD:15890"} synonym: "USH1K" EXACT ABBREVIATION [DOID:0110837, MONDO:Lexical, OMIM:614990] synonym: "Usher syndrome type IK" EXACT [DOID:0110837] synonym: "USHER syndrome, type IK" RELATED [MONDO:Lexical, OMIM:614990] xref: DOID:0110837 {source="MONDO:equivalentTo"} +xref: GARD:15890 {source="OMIM:614990"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110837"} xref: OMIM:614990 {source="DOID:0110837", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:614990"} @@ -279715,6 +287783,7 @@ property_value: confidence "2.4444444444444438" xsd:double id: MONDO:0014002 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15891"} synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1] synonym: "ENFL5" EXACT ABBREVIATION [DOID:0060686, MONDO:Lexical, OMIM:615005] @@ -279724,6 +287793,7 @@ synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615 synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686] xref: DOID:0060686 {source="MONDO:equivalentTo"} +xref: GARD:15891 {source="OMIM:615005"} xref: OMIM:615005 {source="DOID:0060686", source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="OMIM:615005"} xref: UMLS:C3554306 {source="OMIM:615005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -279738,12 +287808,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014003 name: developmental and epileptic encephalopathy, 15 +subset: gard_rare {source="GARD:15892"} synonym: "DEE15" EXACT ABBREVIATION [OMIM:615006] synonym: "developmental and epileptic encephalopathy 15" EXACT [OMIM:615006, OMIM:genemap2] synonym: "EIEE15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615006] synonym: "epileptic encephalopathy, early infantile, 15" EXACT [MONDO:Lexical, OMIM:615006] synonym: "epileptic encephalopathy, early infantile, type 15" EXACT [MONDORULE:2, OMIM:615006] xref: DOID:0080414 {source="MONDO:equivalentTo"} +xref: GARD:15892 {source="OMIM:615006"} xref: OMIM:615006 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:615006"} xref: UMLS:C3554316 {source="OMIM:615006", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -279755,9 +287827,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014004 name: basal ganglia calcification, idiopathic, 4 +subset: gard_rare {source="GARD:15893"} synonym: "basal ganglia calcification, idiopathic, 4" EXACT [MONDO:Lexical, OMIM:615007] synonym: "basal ganglia calcification, idiopathic, type 4" EXACT [MONDORULE:1, OMIM:615007] synonym: "IBGC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615007] +xref: GARD:15893 {source="OMIM:615007"} xref: OMIM:615007 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="OMIM:615007"} xref: UMLS:C3554321 {source="OMIM:615007", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -279770,6 +287844,7 @@ property_value: confidence "0.5" xsd:double id: MONDO:0014005 name: immunoglobulin-mediated membranoproliferative glomerulonephritis def: "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." [NCIT:C123055] +subset: gard_rare {source="GARD:18557", source="GARD:17506"} subset: ordo_clinical_subtype {source="Orphanet:329903"} subset: predisposition synonym: "Ahus, susceptibility to, 7" RELATED [OMIM:615008] @@ -279784,6 +287859,8 @@ synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055] synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008] synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008] synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615008] +xref: GARD:17506 {source="Orphanet:329903"} +xref: GARD:18557 {source="OMIM:615008"} xref: ICD10CM:N00.5 {source="Orphanet:329903/attributed", source="Orphanet:329903/ntbt", source="Orphanet:329903"} xref: NCIT:C123055 {source="MONDO:equivalentTo"} xref: OMIM:615008 {source="Orphanet:329903", source="MONDO:equivalentTo", source="Orphanet:329903/e"} @@ -279807,6 +287884,7 @@ property_value: confidence "1.2474747474747478" xsd:double id: MONDO:0014006 name: Schuurs-Hoeijmakers syndrome def: "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." [Orphanet:329224] +subset: gard_rare {source="GARD:13043"} subset: ordo_malformation_syndrome {source="Orphanet:329224"} synonym: "autosomal dominant intellectual disability 17" EXACT [DOID:0070047] synonym: "autosomal dominant intellectual disability-17" RELATED [GARD:0013043] @@ -279821,6 +287899,7 @@ synonym: "PACS1-related syndrome" RELATED [GARD:0013043] synonym: "Schuurs-Hoeijmakers syndrome" EXACT CLINGEN_PREFERRED [OMIM:615009] synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047] xref: DOID:0070047 {source="MONDO:equivalentTo"} +xref: GARD:13043 {source="Orphanet:329224"} xref: NCIT:C150555 {source="MONDO:equivalentTo"} xref: OMIM:615009 {source="Orphanet:329224/e", source="DOID:0070047", source="MONDO:equivalentTo", source="Orphanet:329224"} xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"} @@ -279838,6 +287917,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014007 name: Aicardi-Goutieres syndrome 6 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15894"} synonym: "ADAR Aicardi-Goutieres syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Adar Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] synonym: "AGS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615010] @@ -279845,6 +287925,7 @@ synonym: "Aicardi-Goutieres syndrome 6" EXACT [MONDO:Lexical, OMIM:615010] synonym: "Aicardi-Goutieres syndrome caused by mutation in ADAR" EXACT [] synonym: "Aicardi-Goutieres syndrome caused by mutation in Adar" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1, OMIM:615010] +xref: GARD:15894 {source="OMIM:615010"} xref: OMIM:615010 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:615010"} xref: UMLS:C3539013 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615010"} @@ -279872,10 +287953,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014009 name: autosomal recessive congenital ichthyosis 7 def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." [DOID:0060716, PMID:16117785] +subset: gard_rare {source="GARD:15895"} synonym: "ARCI7" EXACT ABBREVIATION [DOID:0060716, MONDO:Lexical, OMIM:615022] synonym: "autosomal recessive congenital ichthyosis type 7" EXACT [DOID:0060716, MONDORULE:1] synonym: "ichthyosis, congenital, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:615022] xref: DOID:0060716 {source="MONDO:equivalentTo"} +xref: GARD:15895 {source="OMIM:615022"} xref: ICD10CM:Q80.2 {source="DOID:0060716"} xref: OMIM:615022 {source="MONDO:equivalentTo", source="DOID:0060716"} xref: Orphanet:79394 {source="OMIM:615022"} @@ -279889,12 +287972,14 @@ property_value: confidence "0.04999999999999982" xsd:double id: MONDO:0014010 name: autosomal recessive congenital ichthyosis 9 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15896"} synonym: "ARCI9" EXACT ABBREVIATION [DOID:0060718, MONDO:Lexical, OMIM:615023] synonym: "autosomal recessive congenital ichthyosis 9" EXACT CLINGEN_PREFERRED [] synonym: "autosomal recessive congenital ichthyosis type 9" EXACT [DOID:0060718, MONDORULE:1] synonym: "ichthyosis, congenital, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:615023] synonym: "ichthyosis, congenital, autosomal recessive type 9" EXACT [MONDORULE:1, OMIM:615023] xref: DOID:0060718 {source="MONDO:equivalentTo"} +xref: GARD:15896 {source="OMIM:615023"} xref: ICD10CM:Q80.2 {source="DOID:0060718"} xref: OMIM:615023 {source="MONDO:equivalentTo", source="DOID:0060718"} xref: Orphanet:79394 {source="OMIM:615023"} @@ -279913,11 +287998,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014011 name: autosomal recessive congenital ichthyosis 10 def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15897"} synonym: "ARCI10" EXACT ABBREVIATION [DOID:0060719, MONDO:Lexical, OMIM:615024] synonym: "autosomal recessive congenital ichthyosis type 10" EXACT [DOID:0060719, MONDORULE:2] synonym: "ichthyosis, congenital, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:615024] synonym: "ichthyosis, congenital, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:615024] xref: DOID:0060719 {source="MONDO:equivalentTo"} +xref: GARD:15897 {source="OMIM:615024"} xref: ICD10CM:Q80.2 {source="DOID:0060719"} xref: OMIM:615024 {source="DOID:0060719", source="MONDO:equivalentTo"} xref: Orphanet:79394 {source="OMIM:615024"} @@ -279936,6 +288023,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014012 name: Charcot-Marie-Tooth disease axonal type 2Q def: "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." [Orphanet:329258] +subset: gard_rare {source="GARD:12446"} subset: ordo_disease {source="Orphanet:329258"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] @@ -279948,6 +288036,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025] synonym: "CMT2Q" EXACT ABBREVIATION [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258] synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110170 {source="MONDO:equivalentTo"} +xref: GARD:12446 {source="Orphanet:329258"} xref: ICD10CM:G60.0 {source="DOID:0110170", source="Orphanet:329258/attributed", source="Orphanet:329258/ntbt", source="Orphanet:329258"} xref: OMIM:615025 {source="Orphanet:329258/e", source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258"} xref: Orphanet:329258 {source="OMIM:615025", source="DOID:0110170", source="MONDO:equivalentTo"} @@ -279962,10 +288051,12 @@ property_value: confidence "182.6666666666643" xsd:double [Term] id: MONDO:0014013 name: maternal riboflavin deficiency +subset: gard_rare {source="GARD:17686"} subset: ordo_disease {source="Orphanet:411712"} synonym: "maternal riboflavin deficiency" EXACT CLINGEN_PREFERRED [] synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615026] synonym: "riboflavin deficiency" BROAD [MONDO:Lexical, OMIM:615026] +xref: GARD:17686 {source="Orphanet:411712"} xref: ICD10CM:P00.4 {source="Orphanet:411712", source="Orphanet:411712/attributed", source="Orphanet:411712/ntbt"} xref: Orphanet:411712 {source="OMIM:615026", source="MONDO:equivalentTo"} xref: UMLS:C0035528 {source="OMIM:615026", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -279979,12 +288070,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014014 name: epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +subset: gard_rare {source="GARD:17691"} subset: ordo_disease {source="Orphanet:412189"} synonym: "EBNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615028] synonym: "EBS-AR exophilin 5" EXACT [Orphanet:412189] synonym: "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" EXACT [OMIM:615028, OMIM:genemap2] synonym: "epidermolysis bullosa simplex due to exophilin 5 deficiency" EXACT CLINGEN_PREFERRED [Orphanet:412189] synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615028] +xref: GARD:17691 {source="Orphanet:412189"} xref: ICD10CM:Q81.0 {source="Orphanet:412189/attributed", source="Orphanet:412189/ntbt", source="Orphanet:412189"} xref: OMIM:615028 {source="Orphanet:412189/e", source="MONDO:equivalentTo", source="Orphanet:412189"} xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"} @@ -280001,6 +288094,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014015 name: hereditary spastic paraplegia 56 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17480"} subset: ordo_disease {source="Orphanet:320411"} synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808] @@ -280010,6 +288104,7 @@ synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE: synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030] synonym: "SPG56" EXACT ABBREVIATION [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411] xref: DOID:0110808 {source="MONDO:equivalentTo"} +xref: GARD:17480 {source="Orphanet:320411"} xref: ICD10CM:G11.4 {source="Orphanet:320411/attributed", source="Orphanet:320411/ntbt", source="Orphanet:320411", source="DOID:0110808"} xref: OMIM:615030 {source="Orphanet:320411", source="MONDO:equivalentTo", source="DOID:0110808", source="Orphanet:320411/e"} xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", source="OMIM:615030"} @@ -280024,6 +288119,7 @@ property_value: confidence "15.666666666666679" xsd:double id: MONDO:0014016 name: hereditary spastic paraplegia 49 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13568"} subset: ordo_disease {source="Orphanet:320385"} synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801] @@ -280035,6 +288131,7 @@ synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385] synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110801 {source="MONDO:equivalentTo"} +xref: GARD:13568 {source="Orphanet:320385"} xref: ICD10CM:G11.4 {source="Orphanet:320385", source="DOID:0110801", source="Orphanet:320385/attributed", source="Orphanet:320385/ntbt"} xref: OMIM:615031 {source="Orphanet:320385", source="DOID:0110801", source="MONDO:equivalentTo", source="Orphanet:320385/e"} xref: Orphanet:320385 {source="DOID:0110801", source="MONDO:equivalentTo", source="OMIM:615031"} @@ -280072,6 +288169,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014018 name: hereditary spastic paraplegia 54 def: "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." [Orphanet:320380] +subset: gard_rare {source="GARD:17475"} subset: ordo_disease {source="Orphanet:320380"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806] @@ -280081,6 +288179,7 @@ synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE: synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033] synonym: "SPG54" EXACT ABBREVIATION [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380] xref: DOID:0110806 {source="MONDO:equivalentTo"} +xref: GARD:17475 {source="Orphanet:320380"} xref: ICD10CM:G11.4 {source="DOID:0110806", source="Orphanet:320380/attributed", source="Orphanet:320380/ntbt", source="Orphanet:320380"} xref: OMIM:615033 {source="Orphanet:320380/e", source="MONDO:equivalentTo", source="DOID:0110806", source="Orphanet:320380"} xref: Orphanet:320380 {source="MONDO:equivalentTo", source="DOID:0110806", source="OMIM:615033"} @@ -280098,6 +288197,7 @@ id: MONDO:0014019 name: dystonia 24 def: "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: DO classifies as purely focal +subset: gard_rare {source="GARD:17693"} subset: ordo_disease {source="Orphanet:420485"} synonym: "ANO3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [Orphanet:420485] @@ -280108,6 +288208,7 @@ synonym: "DYT-ANO3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cj synonym: "DYT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615034, Orphanet:420485] xref: DOID:0090052 {source="MONDO:equivalentTo"} xref: EFO:0009040 {source="MONDO:equivalentTo"} +xref: GARD:17693 {source="Orphanet:420485"} xref: ICD10CM:G24.8 {source="DOID:0090052", source="Orphanet:420485", source="Orphanet:420485/attributed", source="Orphanet:420485/ntbt"} xref: OMIM:615034 {source="DOID:0090052", source="Orphanet:420485", source="MONDO:equivalentTo", source="Orphanet:420485/e"} xref: Orphanet:420485 {source="DOID:0090052", source="MONDO:equivalentTo", source="OMIM:615034"} @@ -280121,6 +288222,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014020 name: hereditary spastic paraplegia 55 +subset: gard_rare {source="GARD:17474"} subset: ordo_disease {source="Orphanet:320375"} synonym: "autosomal recessive spastic paraplegia 55" EXACT [DOID:0110807] synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807] @@ -280128,6 +288230,7 @@ synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE: synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035] synonym: "SPG55" EXACT ABBREVIATION [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375] xref: DOID:0110807 {source="MONDO:equivalentTo"} +xref: GARD:17474 {source="Orphanet:320375"} xref: ICD10CM:G11.4 {source="Orphanet:320375/attributed", source="Orphanet:320375/ntbt", source="Orphanet:320375", source="DOID:0110807"} xref: OMIM:615035 {source="Orphanet:320375", source="MONDO:equivalentTo", source="Orphanet:320375/e", source="DOID:0110807"} xref: Orphanet:320375 {source="MONDO:equivalentTo", source="DOID:0110807", source="OMIM:615035"} @@ -280146,11 +288249,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014021 name: familial episodic pain syndrome with predominantly upper body involvement +subset: gard_rare {source="GARD:17618"} subset: ordo_clinical_subtype {source="Orphanet:391389"} synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040] synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040] synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615040] xref: DOID:0111729 {source="MONDO:equivalentTo"} +xref: GARD:17618 {source="Orphanet:391389"} xref: ICD10CM:M79.6 {source="Orphanet:391389", source="Orphanet:391389/attributed", source="Orphanet:391389/ntbt"} xref: OMIM:615040 {source="Orphanet:391389/e", source="MONDO:equivalentTo", source="Orphanet:391389"} xref: Orphanet:391384 {source="OMIM:615040"} @@ -280165,6 +288270,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014022 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15898"} synonym: "MDDGA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" RELATED [OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041] @@ -280172,6 +288278,7 @@ synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RX synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [OMIM:615041] xref: DOID:0111239 {source="MONDO:equivalentTo"} +xref: GARD:15898 {source="OMIM:615041"} xref: OMIM:615041 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615041"} xref: UMLS:C3554381 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615041"} @@ -280186,6 +288293,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014023 name: congenital muscular dystrophy with intellectual disability and severe epilepsy +subset: gard_rare {source="GARD:12416"} subset: ordo_disease {source="Orphanet:329178"} synonym: "carbohydrate deficient glycoprotein syndrome type Iu" EXACT [Orphanet:329178] synonym: "CDG Iu" RELATED [OMIM:615042] @@ -280198,6 +288306,7 @@ synonym: "congenital disorder of glycosylation type Iu" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, OMIM:615042] synonym: "DPM2-CDG" EXACT [Orphanet:329178] xref: DOID:0080571 {source="MONDO:equivalentTo"} +xref: GARD:12416 {source="Orphanet:329178"} xref: ICD10CM:E77.8 {source="Orphanet:329178/attributed", source="Orphanet:329178/ntbt", source="Orphanet:329178"} xref: OMIM:615042 {source="Orphanet:329178/e", source="MONDO:equivalentTo", source="Orphanet:329178"} xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"} @@ -280216,6 +288325,7 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0014024 name: hereditary spastic paraplegia 43 def: "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." [Orphanet:320370] +subset: gard_rare {source="GARD:17473"} subset: ordo_disease {source="Orphanet:320370"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795] @@ -280225,6 +288335,7 @@ synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE: synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043] synonym: "SPG43" EXACT ABBREVIATION [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370] xref: DOID:0110795 {source="MONDO:equivalentTo"} +xref: GARD:17473 {source="Orphanet:320370"} xref: ICD10CM:G11.4 {source="Orphanet:320370/attributed", source="Orphanet:320370/ntbt", source="Orphanet:320370", source="DOID:0110795"} xref: OMIM:615043 {source="Orphanet:320370/e", source="MONDO:equivalentTo", source="Orphanet:320370", source="DOID:0110795"} xref: Orphanet:320370 {source="MONDO:equivalentTo", source="OMIM:615043", source="DOID:0110795"} @@ -280239,10 +288350,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014025 name: lower motor neuron syndrome with late-adult onset +subset: gard_rare {source="GARD:17282"} subset: ordo_disease {source="Orphanet:276435"} synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615048] synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048] xref: DOID:0081356 {source="MONDO:equivalentTo"} +xref: GARD:17282 {source="Orphanet:276435"} xref: ICD10CM:G12.1 {source="Orphanet:276435", source="Orphanet:276435/attributed", source="Orphanet:276435/ntbt"} xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="Orphanet:276435/e"} xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"} @@ -280257,6 +288370,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014026 name: congenital stationary night blindness 1F def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15899"} synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [DOID:0110864] synonym: "congenital stationary night blindness caused by mutation in LRIT3" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1F" EXACT [DOID:0110864, MONDORULE:4] @@ -280265,6 +288379,7 @@ synonym: "LRIT3 congenital stationary night blindness" EXACT [MONDO:design_patte synonym: "night blindness, congenital stationary (complete), 1F, autosomal recessive" EXACT [OMIM:615058, OMIM:genemap2] synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical, OMIM:615058] xref: DOID:0110864 {source="MONDO:equivalentTo"} +xref: GARD:15899 {source="OMIM:615058"} xref: OMIM:615058 {source="DOID:0110864", source="MONDO:equivalentTo"} xref: Orphanet:215 {source="OMIM:615058"} xref: UMLS:C3554399 {source="OMIM:615058", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -280278,6 +288393,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014027 name: hypotrichosis 11 def: "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15900"} synonym: "hypotrichosis 11" EXACT [MONDO:Lexical, OMIM:615059] synonym: "hypotrichosis caused by mutation in SNRPE" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 11" EXACT [DOID:0110708, MONDORULE:2, OMIM:615059] @@ -280285,6 +288401,7 @@ synonym: "HYPT11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615059] synonym: "hypt11" EXACT [DOID:0110708] synonym: "SNRPE hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110708 {source="MONDO:equivalentTo"} +xref: GARD:15900 {source="OMIM:615059"} xref: OMIM:615059 {source="MONDO:equivalentTo", source="DOID:0110708"} xref: Orphanet:55654 {source="OMIM:615059"} xref: UMLS:C3554409 {source="OMIM:615059", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -280299,7 +288416,7 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0014028 name: distal arthrogryposis type 5D def: "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." [Orphanet:329457] -subset: gard_rare {source="GARD:0013059"} +subset: gard_rare {source="GARD:13059"} subset: ordo_disease {source="Orphanet:329457"} synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065] synonym: "DA5D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615065, Orphanet:329457] @@ -280308,6 +288425,7 @@ synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457] synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111594 {source="MONDO:equivalentTo"} +xref: GARD:13059 {source="Orphanet:329457"} xref: ICD10CM:Q68.8 {source="Orphanet:329457/attributed", source="Orphanet:329457/ntbt", source="Orphanet:329457"} xref: OMIM:615065 {source="Orphanet:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"} xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"} @@ -280323,6 +288441,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13059/distal id: MONDO:0014029 name: osteogenesis imperfecta type 14 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15901"} synonym: "OI, type 14" RELATED [OMIM:615066] synonym: "OI14" EXACT ABBREVIATION [DOID:0110343, MONDO:Lexical, OMIM:615066] synonym: "osteogenesis imperfecta caused by mutation in TMEM38B" EXACT [MONDO:design_pattern] @@ -280331,6 +288450,7 @@ synonym: "osteogenesis imperfecta, type 14" RELATED [OMIM:615066] synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical, OMIM:615066] synonym: "TMEM38B osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110343 {source="MONDO:equivalentTo"} +xref: GARD:15901 {source="OMIM:615066"} xref: ICD10CM:Q78.0 {source="DOID:0110343"} xref: OMIM:615066 {source="MONDO:equivalentTo", source="DOID:0110343"} xref: Orphanet:216820 {source="OMIM:615066", source="MONDO:directSiblingOf"} @@ -280347,6 +288467,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014030 name: primary ciliary dyskinesia 20 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15902"} synonym: "CCDC114 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD20" EXACT ABBREVIATION [DOID:0110625, MONDO:Lexical, OMIM:615067] synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical, OMIM:615067] @@ -280356,6 +288477,7 @@ synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in CCDC114" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 20" EXACT [DOID:0110625, MONDORULE:2] xref: DOID:0110625 {source="MONDO:equivalentTo"} +xref: GARD:15902 {source="OMIM:615067"} xref: ICD10CM:Q34.8 {source="DOID:0110625"} xref: OMIM:615067 {source="DOID:0110625", source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:615067"} @@ -280369,10 +288491,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014031 name: microcephalic primordial dwarfism, Alazami type def: "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." [Orphanet:319671] +subset: gard_rare {source="GARD:17468"} subset: ordo_malformation_syndrome {source="Orphanet:319671"} synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671] synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615071] synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071] +xref: GARD:17468 {source="Orphanet:319671"} xref: ICD10CM:Q87.1 {source="Orphanet:319671", source="Orphanet:319671/attributed", source="Orphanet:319671/ntbt"} xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="Orphanet:319671/e"} xref: Orphanet:319671 {source="MONDO:equivalentTo", source="OMIM:615071"} @@ -280390,11 +288514,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014032 name: brachydactyly type A1C def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15903"} synonym: "BDA1C" EXACT ABBREVIATION [DOID:0110977, MONDO:Lexical, OMIM:615072] synonym: "brachydactyly type A1 caused by mutation in GDF5" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical, OMIM:615072] synonym: "GDF5 brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110977 {source="MONDO:equivalentTo"} +xref: GARD:15903 {source="OMIM:615072"} xref: OMIM:615072 {source="DOID:0110977", source="MONDO:equivalentTo"} xref: Orphanet:93388 {source="OMIM:615072"} xref: UMLS:C3554446 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615072"} @@ -280406,6 +288532,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014033 name: dystonia 25 def: "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." [Orphanet:329466] +subset: gard_rare {source="GARD:10667"} subset: ordo_disease {source="Orphanet:329466"} synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [Orphanet:329466] synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073] @@ -280414,6 +288541,7 @@ synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_patt synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615073] synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090055 {source="MONDO:equivalentTo"} +xref: GARD:10667 {source="Orphanet:329466"} xref: ICD10CM:G24.1 {source="DOID:0090055", source="Orphanet:329466/attributed", source="Orphanet:329466/ntbt", source="Orphanet:329466"} xref: OMIM:615073 {source="Orphanet:329466/e", source="DOID:0090055", source="MONDO:equivalentTo", source="Orphanet:329466"} xref: Orphanet:329466 {source="DOID:0090055", source="MONDO:equivalentTo", source="OMIM:615073"} @@ -280430,6 +288558,7 @@ property_value: confidence "2.0" xsd:double id: MONDO:0014034 name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." [DOID:0070048] +subset: gard_rare {source="GARD:12815"} subset: ordo_disease {source="Orphanet:363686"} synonym: "autosomal dominant intellectual disability 18" EXACT [DOID:0070048] synonym: "autosomal dominant mental retardation 18" EXACT DEPRECATED [DOID:0070048] @@ -280443,6 +288572,7 @@ synonym: "mental retardation, autosomal dominant type 18" EXACT DEPRECATED [MOND synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical, OMIM:615074] synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070048 {source="MONDO:equivalentTo"} +xref: GARD:12815 {source="Orphanet:363686"} xref: ICD10CM:Q87.8 {source="Orphanet:363686", source="Orphanet:363686/attributed", source="Orphanet:363686/ntbt"} xref: OMIM:615074 {source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686", source="Orphanet:363686/e"} xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"} @@ -280461,7 +288591,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014035 name: severe intellectual disability-progressive spastic diplegia syndrome def: "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome] -subset: gard_rare {source="GARD:0003505"} +subset: gard_rare {source="GARD:3505"} subset: ordo_malformation_syndrome {source="Orphanet:404473"} synonym: "autosomal dominant intellectual disability 19" EXACT [DOID:0070049] synonym: "autosomal dominant mental retardation 19" EXACT DEPRECATED [DOID:0070049] @@ -280475,6 +288605,7 @@ synonym: "MRD19" EXACT ABBREVIATION [DOID:0070049, MONDO:Lexical, OMIM:615075] synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [OMIM:615075, OMIM:genemap2] synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070049 {source="MONDO:equivalentTo"} +xref: GARD:3505 {source="Orphanet:404473"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:404473/attributed", source="Orphanet:404473/ntbt", source="Orphanet:404473"} xref: OMIM:615075 {source="Orphanet:404473/e", source="DOID:0070049", source="MONDO:equivalentTo", source="Orphanet:404473"} xref: Orphanet:404473 {source="MONDO:equivalentTo", source="OMIM:615075"} @@ -280510,12 +288641,14 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0014037 name: spermatogenic failure 11 def: "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15904"} synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern] synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081] synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081] synonym: "SPGF11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615081] xref: DOID:0070180 {source="MONDO:equivalentTo"} +xref: GARD:15904 {source="OMIM:615081"} xref: OMIM:615081 {source="MONDO:equivalentTo"} xref: UMLS:C3554453 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615081"} is_a: MONDO:0004983 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! spermatogenic failure @@ -280530,6 +288663,7 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014038 name: colorectal cancer, susceptibility to, 12 def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18486"} subset: predisposition synonym: "colorectal cancer caused by mutation in POLE" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 12" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615083] @@ -280538,6 +288672,7 @@ synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2, OMI synonym: "CRCS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615083] synonym: "POLE colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to colorectal cancer 12" RELATED [OMIM:615083] +xref: GARD:18486 {source="OMIM:615083"} xref: OMIM:615083 {source="MONDO:equivalentTo"} xref: UMLS:C3554460 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615083"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -280550,6 +288685,7 @@ property_value: confidence "0.888162672476398" xsd:double id: MONDO:0014039 name: mitochondrial DNA depletion syndrome 11 def: "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." [Orphanet:352447] +subset: gard_rare {source="GARD:17517"} subset: ordo_disease {source="Orphanet:352447"} synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084] @@ -280561,6 +288697,7 @@ synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615084] synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447] synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447] xref: DOID:0080129 {source="MONDO:equivalentTo"} +xref: GARD:17517 {source="Orphanet:352447"} xref: ICD10CM:G71.3 {source="Orphanet:352447", source="Orphanet:352447/attributed", source="Orphanet:352447/ntbt"} xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="DOID:0080129", source="Orphanet:352447/e"} xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"} @@ -280575,6 +288712,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014040 name: autosomal recessive osteopetrosis 8 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15905"} synonym: "autosomal recessive malignant osteopetrosis caused by mutation in SNX10" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in SNX10" EXACT [] synonym: "autosomal recessive osteopetrosis type 8" EXACT [DOID:0110940, MONDORULE:1] @@ -280584,6 +288722,7 @@ synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:61 synonym: "SNX10 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "SNX10 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110940 {source="MONDO:equivalentTo"} +xref: GARD:15905 {source="OMIM:615085"} xref: NCIT:C150556 {source="MONDO:equivalentTo"} xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:615085"} @@ -280620,11 +288759,13 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014042 name: left ventricular noncompaction 7 def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15906"} synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, OMIM:615092] synonym: "left ventricular noncompaction caused by mutation in MIB1" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1, OMIM:615092] synonym: "LVNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615092] synonym: "MIB1 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15906 {source="OMIM:615092"} xref: NCIT:C157266 {source="MONDO:equivalentTo"} xref: OMIM:615092 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:615092"} @@ -280638,12 +288779,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014043 name: microcephalic primordial dwarfism due to ZNF335 deficiency def: "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." [Orphanet:329228] +subset: gard_rare {source="GARD:17498"} subset: ordo_malformation_syndrome {source="Orphanet:329228"} synonym: "MCPH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615095] synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228] synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095] synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294] xref: DOID:0070294 {source="MONDO:equivalentTo"} +xref: GARD:17498 {source="Orphanet:329228"} xref: ICD10CM:Q87.1 {source="Orphanet:329228", source="Orphanet:329228/attributed", source="Orphanet:329228/ntbt"} xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="Orphanet:329228/e"} xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"} @@ -280661,8 +288804,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014044 name: dysmorphism-conductive hearing loss-heart defect syndrome def: "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." [OMIM:615102] +subset: gard_rare {source="GARD:17328"} subset: ordo_malformation_syndrome {source="Orphanet:289553"} synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102] +xref: GARD:17328 {source="Orphanet:289553"} xref: ICD10CM:Q87.8 {source="Orphanet:289553/attributed", source="Orphanet:289553/ntbt", source="Orphanet:289553"} xref: OMIM:615102 {source="Orphanet:289553", source="MONDO:equivalentTo", source="Orphanet:289553/e"} xref: Orphanet:289553 {source="OMIM:615102", source="MONDO:equivalentTo"} @@ -280694,12 +288839,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014046 name: Cowden syndrome 4 def: "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16463"} synonym: "Cowden disease caused by mutation in KLLN" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 4" EXACT [MONDO:Lexical, OMIM:615107] synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1, OMIM:615107] synonym: "CWS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615107] synonym: "KLLN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081000 {source="MONDO:equivalentTo"} +xref: GARD:16463 {source="OMIM:615107"} xref: OMIM:615107 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615107"} xref: UMLS:C3554517 {source="OMIM:615107", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -280712,12 +288859,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014047 name: Cowden syndrome 5 def: "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16464"} synonym: "Cowden disease caused by mutation in PIK3CA" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 5" EXACT [MONDO:Lexical, OMIM:615108] synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1, OMIM:615108] synonym: "CWS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615108] synonym: "PIK3CA Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081001 {source="MONDO:equivalentTo"} +xref: GARD:16464 {source="OMIM:615108"} xref: OMIM:615108 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615108"} xref: UMLS:C3554518 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615108"} @@ -280731,12 +288880,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014048 name: Cowden syndrome 6 def: "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16465"} synonym: "AKT1 Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Cowden disease caused by mutation in AKT1" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 6" EXACT [MONDO:Lexical, OMIM:615109] synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1, OMIM:615109] synonym: "CWS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615109] xref: DOID:0081002 {source="MONDO:equivalentTo"} +xref: GARD:16465 {source="OMIM:615109"} xref: OMIM:615109 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615109"} xref: UMLS:C3554519 {source="MONDO:equivalentTo", source="OMIM:615109", source="MONDO:ncbi_mim2gene_medline"} @@ -280750,11 +288901,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014049 name: urofacial syndrome 2 def: "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15907"} synonym: "LRIG2 Ochoa syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Ochoa syndrome caused by mutation in LRIG2" EXACT [MONDO:design_pattern] synonym: "UFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615112] synonym: "urofacial syndrome 2" EXACT [MONDO:Lexical, OMIM:615112] synonym: "urofacial syndrome type 2" EXACT [MONDORULE:1, OMIM:615112] +xref: GARD:15907 {source="OMIM:615112"} xref: OMIM:615112 {source="MONDO:equivalentTo"} xref: UMLS:C3554520 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615112"} is_a: MONDO:0000463 {source="DC-OMIM:615112", source="MONDO:Redundant", source="OMIM:615112"} ! Ochoa syndrome @@ -280790,6 +288943,7 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0014051 name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18571"} synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615119] synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1, OMIM:615119] synonym: "CEMCOX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615119] @@ -280797,6 +288951,7 @@ synonym: "COX15 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pat synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COX15" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex IV deficiency, nuclear type 6" EXACT [OMIM:615119, OMIM:genemap2] xref: DOID:0080358 {source="MONDO:equivalentTo"} +xref: GARD:18571 {source="OMIM:615119"} xref: OMIM:615119 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:615119"} xref: UMLS:C3554534 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615119"} @@ -280811,6 +288966,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014052 name: congenital myasthenic syndrome 8 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15908"} synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS8" EXACT ABBREVIATION [DOID:0110657, MONDO:Lexical, OMIM:615120] synonym: "congenital myasthenic syndrome 8" EXACT CLINGEN_PREFERRED [] @@ -280824,6 +288980,7 @@ synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [OMI synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1, OMIM:615120] synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [OMIM:615120] xref: DOID:0110657 {source="MONDO:equivalentTo"} +xref: GARD:15908 {source="OMIM:615120"} xref: OMIM:615120 {source="DOID:0110657", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:615120"} xref: Orphanet:98914 {source="OMIM:615120"} @@ -280873,11 +289030,13 @@ property_value: confidence "3.012345679012345" xsd:double [Term] id: MONDO:0014055 name: epilepsy, familial adult myoclonic, 4 +subset: gard_rare {source="GARD:18085"} synonym: "cortical myoclonic tremor with epilepsy, familial, 4" RELATED [OMIM:615127] synonym: "epilepsy, familial ADULT myoclonic, 4" RELATED [MONDO:Lexical, OMIM:615127] synonym: "epilepsy, myoclonic, familial adult, 4" EXACT [OMIM:615127, OMIM:genemap2] synonym: "FAME4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615127] xref: DOID:0111693 {source="MONDO:equivalentTo"} +xref: GARD:18085 {source="OMIM:615127"} xref: OMIM:615127 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:615127"} xref: UMLS:C3554560 {source="OMIM:615127", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -280889,12 +289048,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014056 name: melanoma, cutaneous malignant, susceptibility to, 9 +subset: gard_rare {source="GARD:18581"} subset: predisposition synonym: "CMM9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615134] synonym: "melanoma, cutaneous malignant, 9" EXACT [OMIM:615134, OMIM:genemap2] synonym: "melanoma, cutaneous malignant, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:615134] synonym: "melanoma, cutaneous malignant, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:615134] synonym: "susceptibility to cutaneous malignant melanoma 9" RELATED [OMIM:615134] +xref: GARD:18581 {source="OMIM:615134"} xref: OMIM:615134 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:615134"} xref: UMLS:C3554574 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615134"} @@ -280909,8 +289070,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014057 name: maple syrup urine disease, mild variant +subset: gard_rare {source="GARD:18388"} synonym: "maple syrup urine disease, mild variant" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615135] synonym: "MSUDMV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615135] +xref: GARD:18388 {source="OMIM:615135"} xref: OMIM:615135 {source="MONDO:equivalentTo"} xref: Orphanet:268162 {source="OMIM:615135"} xref: Orphanet:511 {source="OMIM:615135"} @@ -280924,10 +289087,12 @@ property_value: confidence "0.6200294550810015" xsd:double id: MONDO:0014058 name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome def: "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:352712] +subset: gard_rare {source="GARD:17528"} subset: ordo_disease {source="Orphanet:352712"} synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils syndrome" EXACT [Orphanet:352712] +xref: GARD:17528 {source="Orphanet:352712"} xref: ICD10CM:Q87.1 {source="Orphanet:352712/attributed", source="Orphanet:352712/ntbt", source="Orphanet:352712"} xref: OMIM:615139 {source="Orphanet:352712/e", source="MONDO:equivalentTo", source="Orphanet:352712"} xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"} @@ -280940,12 +289105,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014059 name: microphthalmia, isolated, with coloboma 9 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15909"} synonym: "MCOPCB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615145] synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical, OMIM:615145] synonym: "microphthalmia, isolated, with coloboma caused by mutation in TENM3" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1, OMIM:615145] synonym: "microphthalmia, syndromic 15" EXACT [OMIM:615145, OMIM:genemap2] synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15909 {source="OMIM:615145"} xref: OMIM:615145 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:615145"} xref: UMLS:C3554592 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615145"} @@ -280960,10 +289127,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014060 name: progressive retinal dystrophy due to retinol transport defect comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:17529"} subset: ordo_disease {source="Orphanet:352718"} synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615147] synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147] synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718] +xref: GARD:17529 {source="Orphanet:352718"} xref: ICD10CM:H35.5 {source="Orphanet:352718", source="Orphanet:352718/attributed", source="Orphanet:352718/ntbt", source="MONDO:directSiblingOf"} xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="Orphanet:352718/e"} xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"} @@ -280977,11 +289146,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014061 name: Steel syndrome def: "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described." [Orphanet:438117] +subset: gard_rare {source="GARD:17735"} subset: ordo_disease {source="Orphanet:438117"} synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" EXACT [Orphanet:438117] synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155] synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155] synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615155] +xref: GARD:17735 {source="Orphanet:438117"} xref: ICD10CM:Q87.5 {source="Orphanet:438117", source="Orphanet:438117/attributed", source="Orphanet:438117/ntbt"} xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="Orphanet:438117/e"} xref: Orphanet:438117 {source="MONDO:equivalentTo"} @@ -280997,6 +289168,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014062 name: mitochondrial DNA deletion syndrome with progressive myopathy +subset: gard_rare {source="GARD:17518"} subset: ordo_disease {source="Orphanet:352470"} synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] @@ -281006,6 +289178,7 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156] synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156] xref: DOID:0111519 {source="MONDO:equivalentTo"} +xref: GARD:17518 {source="Orphanet:352470"} xref: ICD10CM:G71.3 {source="Orphanet:352470/attributed", source="Orphanet:352470/ntbt", source="Orphanet:352470"} xref: OMIM:615156 {source="Orphanet:352470/e", source="MONDO:equivalentTo", source="Orphanet:352470"} xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"} @@ -281019,6 +289192,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014063 name: mitochondrial complex III deficiency nuclear type 2 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15910"} synonym: "MC3DN2" EXACT ABBREVIATION [DOID:0060351, MONDO:Lexical, OMIM:615157] synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [OMIM:615157] synonym: "mitochondrial complex III deficiency caused by mutation in TTC19" EXACT [MONDO:design_pattern] @@ -281026,6 +289200,7 @@ synonym: "mitochondrial complex III deficiency nuclear type 2" EXACT CLINGEN_PRE synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:615157] synonym: "TTC19 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060351 {source="MONDO:equivalentTo"} +xref: GARD:15910 {source="OMIM:615157"} xref: OMIM:615157 {source="DOID:0060351", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615157"} xref: UMLS:C3554605 {source="OMIM:615157", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281041,12 +289216,14 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014064 name: mitochondrial complex III deficiency nuclear type 3 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15911"} synonym: "MC3DN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615158] synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [OMIM:615158] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRB" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:615158] synonym: "UQCRB mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080112 {source="MONDO:equivalentTo"} +xref: GARD:15911 {source="OMIM:615158"} xref: OMIM:615158 {source="DOID:0080112", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615158"} xref: UMLS:C3554606 {source="OMIM:615158", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281062,12 +289239,14 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014065 name: mitochondrial complex III deficiency nuclear type 4 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15912"} synonym: "MC3DN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615159] synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [OMIM:615159] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRQ" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615159] synonym: "UQCRQ mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080113 {source="MONDO:equivalentTo"} +xref: GARD:15912 {source="OMIM:615159"} xref: OMIM:615159 {source="MONDO:equivalentTo", source="DOID:0080113"} xref: Orphanet:1460 {source="OMIM:615159"} xref: UMLS:C3554607 {source="OMIM:615159", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281083,12 +289262,14 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014066 name: mitochondrial complex III deficiency nuclear type 5 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15913"} synonym: "MC3DN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615160] synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [OMIM:615160] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRC2" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical, OMIM:615160] synonym: "UQCRC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080114 {source="MONDO:equivalentTo"} +xref: GARD:15913 {source="OMIM:615160"} xref: OMIM:615160 {source="DOID:0080114", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615160"} xref: UMLS:C3554608 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615160"} @@ -281103,11 +289284,13 @@ property_value: confidence "17.88808347074" xsd:double [Term] id: MONDO:0014067 name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome +subset: gard_rare {source="GARD:17548"} subset: ordo_malformation_syndrome {source="Orphanet:357175"} synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162] synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] xref: DOID:0081201 {source="MONDO:equivalentTo"} +xref: GARD:17548 {source="Orphanet:357175"} xref: ICD10CM:Q87.8 {source="Orphanet:357175/attributed", source="Orphanet:357175/ntbt", source="Orphanet:357175"} xref: OMIM:615162 {source="Orphanet:357175/e", source="MONDO:equivalentTo", source="Orphanet:357175"} xref: Orphanet:357175 {source="MONDO:equivalentTo", source="OMIM:615162"} @@ -281122,10 +289305,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014068 name: cone-rod dystrophy 17 def: "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26." [DOID:0111023, PMID:22929024] +subset: gard_rare {source="GARD:15914"} synonym: "cone-rod dystrophy 17" EXACT [MONDO:Lexical, OMIM:615163] synonym: "cone-rod dystrophy type 17" EXACT [DOID:0111023, MONDORULE:2] synonym: "CORD17" EXACT ABBREVIATION [DOID:0111023, MONDO:Lexical, OMIM:615163] xref: DOID:0111023 {source="MONDO:equivalentTo"} +xref: GARD:15914 {source="OMIM:615163"} xref: OMIM:615163 {source="MONDO:equivalentTo", source="DOID:0111023"} xref: UMLS:C3554610 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615163"} is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023"} ! cone-rod dystrophy @@ -281133,11 +289318,13 @@ is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023"} ! cone-rod [Term] id: MONDO:0014069 name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome +subset: gard_rare {source="GARD:17551"} subset: ordo_malformation_syndrome {source="Orphanet:357332"} synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [OMIM:615170] synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332] synonym: "WAHAB syndrome" RELATED [OMIM:615170] synonym: "Wahab syndrome" EXACT [Orphanet:357332] +xref: GARD:17551 {source="Orphanet:357332"} xref: ICD10CM:Q87.2 {source="Orphanet:357332/attributed", source="Orphanet:357332/ntbt", source="Orphanet:357332"} xref: OMIM:615170 {source="Orphanet:357332/e", source="MONDO:equivalentTo", source="Orphanet:357332"} xref: Orphanet:357332 {source="MONDO:equivalentTo", source="OMIM:615170"} @@ -281149,6 +289336,7 @@ property_value: confidence "6.5" xsd:double id: MONDO:0014070 name: oculocutaneous albinism type 7 def: "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." [Orphanet:352745] +subset: gard_rare {source="GARD:17531"} subset: ordo_disease {source="Orphanet:352745"} synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179] synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179] @@ -281157,6 +289345,7 @@ synonym: "OCA7" EXACT ABBREVIATION [DOID:0070100, MONDO:Lexical, OMIM:615179, Or synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100] xref: DOID:0070100 {source="MONDO:equivalentTo"} +xref: GARD:17531 {source="Orphanet:352745"} xref: ICD10CM:E70.3 {source="Orphanet:352745/attributed", source="Orphanet:352745/ntbt", source="Orphanet:352745"} xref: OMIM:615179 {source="Orphanet:352745/e", source="DOID:0070100", source="MONDO:equivalentTo", source="Orphanet:352745"} xref: Orphanet:352745 {source="OMIM:615179", source="MONDO:equivalentTo"} @@ -281173,6 +289362,7 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014071 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15915"} synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MDDGA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" RELATED [OMIM:615181] @@ -281181,6 +289371,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye a synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [OMIM:615181] xref: DOID:0111230 {source="MONDO:equivalentTo"} +xref: GARD:15915 {source="OMIM:615181"} xref: OMIM:615181 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:615181"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615181"} @@ -281197,6 +289388,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014072 name: D,L-2-hydroxyglutaric aciduria def: "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." [Orphanet:356978] +subset: gard_rare {source="GARD:17540"} subset: ordo_disease {source="Orphanet:356978"} synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical, OMIM:615182] synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] @@ -281206,6 +289398,7 @@ synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT CLINGEN_PREFERRED [] synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615182] xref: DOID:0111619 {source="MONDO:equivalentTo"} +xref: GARD:17540 {source="Orphanet:356978"} xref: ICD10CM:E72.8 {source="Orphanet:356978", source="Orphanet:356978/attributed", source="Orphanet:356978/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615182 {source="MONDO:equivalentTo", source="Orphanet:356978", source="Orphanet:356978/e"} @@ -281221,6 +289414,7 @@ property_value: confidence "3.062500000000001" xsd:double id: MONDO:0014073 name: dilated cardiomyopathy 1II def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15916"} synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical, OMIM:615184] synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6, OMIM:615184] synonym: "CMD1II" EXACT ABBREVIATION [DOID:0110450, MONDO:Lexical, OMIM:615184] @@ -281228,6 +289422,7 @@ synonym: "CRYAB familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pa synonym: "dilated cardiomyopathy type 1II" EXACT [DOID:0110450, MONDORULE:6] synonym: "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] xref: DOID:0110450 {source="MONDO:equivalentTo"} +xref: GARD:15916 {source="OMIM:615184"} xref: ICD10CM:I42.0 {source="DOID:0110450"} xref: OMIM:615184 {source="MONDO:equivalentTo", source="DOID:0110450"} xref: UMLS:C3554649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615184"} @@ -281240,6 +289435,7 @@ id: MONDO:0014074 name: Charcot-Marie-Tooth disease dominant intermediate F def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." [Orphanet:352670] comment: Not in the OMIM series. {source="OMIM:615185"} +subset: gard_rare {source="GARD:9206"} subset: ordo_disease {source="Orphanet:352670"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206] synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [DOID:0110206, MONDORULE:1] @@ -281249,6 +289445,7 @@ synonym: "CMTDIF" EXACT ABBREVIATION [DOID:0110206, MONDO:Lexical, OMIM:615185, synonym: "DI-CMTF" RELATED [GARD:0009206] synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206] xref: DOID:0110206 {source="MONDO:equivalentTo"} +xref: GARD:9206 {source="Orphanet:352670"} xref: ICD10CM:G60.0 {source="Orphanet:352670", source="DOID:0110206", source="Orphanet:352670/attributed", source="Orphanet:352670/ntbt"} xref: OMIM:615185 {source="Orphanet:352670", source="DOID:0110206", source="MONDO:equivalentTo", source="Orphanet:352670/e"} xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"} @@ -281287,6 +289484,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014076 name: dyskeratosis congenita, autosomal recessive 5 def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." [DOID:0070020] +subset: gard_rare {source="GARD:15917"} synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [DOID:0070022] synonym: "DKCB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615190] synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [OMIM:615190] @@ -281294,6 +289492,7 @@ synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, O synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:615190] xref: DOID:0070020 {source="MONDO:relatedTo"} xref: DOID:0070022 {source="MONDO:equivalentTo"} +xref: GARD:15917 {source="OMIM:615190"} xref: NCIT:C176928 {source="MONDO:equivalentTo"} xref: OMIM:615190 {source="DOID:0070022", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:615190"} @@ -281312,6 +289511,7 @@ id: MONDO:0014077 name: cobblestone lissencephaly without muscular or ocular involvement def: "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." [Orphanet:352682] subset: clingen +subset: gard_rare {source="GARD:17526"} subset: ordo_disease {source="Orphanet:352682"} synonym: "cobblestone lissencephaly without muscular or eye involvement" EXACT [Orphanet:352682] synonym: "cobblestone lissencephaly without muscular or ocular involvement" EXACT CLINGEN_PREFERRED [] @@ -281321,6 +289521,7 @@ synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orpha synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191] xref: DOID:0112230 {source="MONDO:equivalentTo"} +xref: GARD:17526 {source="Orphanet:352682"} xref: ICD10CM:Q04.3 {source="Orphanet:352682/attributed", source="Orphanet:352682/ntbt", source="Orphanet:352682"} xref: OMIM:615191 {source="Orphanet:352682", source="MONDO:equivalentTo", source="Orphanet:352682/e"} xref: Orphanet:352682 {source="MONDO:equivalentTo", source="OMIM:615191"} @@ -281334,6 +289535,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014078 name: platelet-type bleeding disorder 15 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18272"} synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053] synonym: "BDPLT15" EXACT ABBREVIATION [DOID:0111053, MONDO:Lexical, OMIM:615193] @@ -281342,6 +289544,7 @@ synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1 synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [OMIM:615193] synonym: "platelet-type bleeding disorder 15" EXACT CLINGEN_PREFERRED [] xref: DOID:0111053 {source="MONDO:equivalentTo"} +xref: GARD:18272 {source="OMIM:615193"} xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"} xref: Orphanet:140957 {source="OMIM:615193"} xref: UMLS:C3554663 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615193"} @@ -281370,10 +289573,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014080 name: osteosclerotic metaphyseal dysplasia +subset: gard_rare {source="GARD:17931"} subset: ordo_malformation_syndrome synonym: "OSMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615198] synonym: "osteosclerotic metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:615198] xref: DOID:0081111 {source="MONDO:equivalentTo"} +xref: GARD:17931 {source="Orphanet:500548"} xref: OMIM:615198 {source="MONDO:equivalentTo", source="Orphanet:500548"} xref: Orphanet:500548 {source="MONDO:equivalentTo"} xref: UMLS:C3554665 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615198"} @@ -281385,6 +289590,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014081 name: severe combined immunodeficiency due to CARD11 deficiency def: "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." [Orphanet:357237] +subset: gard_rare {source="GARD:17549"} subset: ordo_disease {source="Orphanet:357237"} synonym: "CARD11 immunodeficiency" RELATED [OMIM:615206] synonym: "IMD11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615206] @@ -281394,6 +289600,7 @@ synonym: "immunodeficiency 11A" EXACT [OMIM:615206, OMIM:genemap2] synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206] synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237] xref: DOID:0111957 {source="MONDO:equivalentTo"} +xref: GARD:17549 {source="Orphanet:357237"} xref: ICD10CM:D81.2 {source="Orphanet:357237", source="Orphanet:357237/attributed", source="Orphanet:357237/ntbt"} xref: OMIM:615206 {source="Orphanet:357237", source="MONDO:equivalentTo", source="Orphanet:357237/e"} xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"} @@ -281406,12 +289613,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014082 name: cryptosporidiosis-chronic cholangitis-liver disease syndrome +subset: gard_rare {source="GARD:17550"} subset: ordo_disease {source="Orphanet:357329"} synonym: "cryptosporidiosis-chronic cholangitis-liver disease syndrome" EXACT CLINGEN_PREFERRED [] synonym: "IL21R immunodeficiency" RELATED [OMIM:615207] synonym: "IMD56" RELATED ABBREVIATION [OMIM:615207] synonym: "immunodeficiency 56" RELATED [OMIM:615207] xref: DOID:0111982 {source="MONDO:equivalentTo"} +xref: GARD:17550 {source="Orphanet:357329"} xref: ICD10CM:D81.8 {source="Orphanet:357329", source="Orphanet:357329/attributed", source="Orphanet:357329/ntbt"} xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="Orphanet:357329/e"} xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"} @@ -281425,12 +289634,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014083 name: agammaglobulinemia 7, autosomal recessive def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15918"} synonym: "agammaglobulinemia 7, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615214] synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [OMIM:615214] synonym: "AGM7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615214] synonym: "autosomal agammaglobulinemia caused by mutation in PIK3R1" EXACT [MONDO:design_pattern] synonym: "PIK3R1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081139 {source="MONDO:equivalentTo"} +xref: GARD:15918 {source="OMIM:615214"} xref: OMIM:615214 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:615214"} xref: Orphanet:33110 {source="OMIM:615214"} @@ -281445,11 +289656,13 @@ property_value: confidence "1.0498438571428572" xsd:double [Term] id: MONDO:0014084 name: ataxia with oculomotor apraxia type 3 +subset: gard_rare {source="GARD:13112"} synonym: "AOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615217] synonym: "ataxia-oculomotor apraxia 3" EXACT [DOID:0060557, MONDO:Lexical, OMIM:615217] synonym: "ataxia-oculomotor apraxia type 3" EXACT [MONDORULE:1, OMIM:615217] synonym: "ataxia-oculomotor apraxia-3" RELATED [GARD:0013112] xref: DOID:0060557 {source="MONDO:equivalentTo"} +xref: GARD:13112 {source="OMIM:615217"} xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"} xref: UMLS:C3554690 {source="OMIM:615217", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015244 {source="DOID:0050950", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia @@ -281481,6 +289694,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014086 name: osteogenesis imperfecta type 15 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15919"} synonym: "OI, type 15" RELATED [OMIM:615220] synonym: "OI15" EXACT ABBREVIATION [DOID:0110347, MONDO:Lexical, OMIM:615220] synonym: "osteogenesis imperfecta caused by mutation in WNT1" EXACT [MONDO:design_pattern] @@ -281489,6 +289703,7 @@ synonym: "osteogenesis imperfecta, type 15" RELATED [OMIM:615220] synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical, OMIM:615220] synonym: "WNT1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110347 {source="MONDO:equivalentTo"} +xref: GARD:15919 {source="OMIM:615220"} xref: ICD10CM:Q78.0 {source="DOID:0110347"} xref: OMIM:615220 {source="DOID:0110347", source="MONDO:equivalentTo"} xref: Orphanet:216812 {source="OMIM:615220", source="MONDO:directSiblingOf"} @@ -281506,6 +289721,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014087 name: Smith-McCort dysplasia 2 def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15921"} synonym: "RAB33B Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Smc2" RELATED [MONDO:Lexical, OMIM:615222] synonym: "SMITH-McCort dysplasia 2" RELATED [OMIM:615222] @@ -281513,6 +289729,7 @@ synonym: "Smith-McCort dysplasia 2" EXACT [MONDO:Lexical, OMIM:615222] synonym: "Smith-McCort dysplasia caused by mutation in RAB33B" EXACT [MONDO:design_pattern] synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1, OMIM:615222] xref: DOID:0081271 {source="MONDO:equivalentTo"} +xref: GARD:15921 {source="OMIM:615222"} xref: OMIM:615222 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="OMIM:615222"} xref: UMLS:C3714896 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615222"} @@ -281528,6 +289745,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014088 name: advanced sleep phase syndrome 2 def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15922"} synonym: "advanced sleep phase syndrome caused by mutation in CSNK1D" EXACT [MONDO:design_pattern] synonym: "advanced sleep phase syndrome type 2" EXACT [DOID:0110012, MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical, OMIM:615224] @@ -281537,6 +289755,7 @@ synonym: "CSNK1D advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MON synonym: "familial advanced sleep phase syndrome 2" EXACT [DOID:0110012] synonym: "FASPS2" EXACT ABBREVIATION [DOID:0110012, MONDO:Lexical, OMIM:615224] xref: DOID:0110012 {source="MONDO:equivalentTo"} +xref: GARD:15922 {source="OMIM:615224"} xref: OMIM:615224 {source="MONDO:equivalentTo", source="DOID:0110012"} xref: Orphanet:164736 {source="OMIM:615224"} xref: UMLS:C3808874 {source="OMIM:615224", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281550,6 +289769,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014089 name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome +subset: gard_rare {source="GARD:17525"} subset: ordo_disease {source="Orphanet:352662"} synonym: "CIDED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615225] synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical, OMIM:615225] @@ -281557,6 +289777,7 @@ synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerl synonym: "MSPC" EXACT ABBREVIATION [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT [] +xref: GARD:17525 {source="Orphanet:352662"} xref: ICD10CM:Q82.8 {source="Orphanet:352662/attributed", source="Orphanet:352662/ntbt", source="Orphanet:352662"} xref: OMIM:615225 {source="Orphanet:352662", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:352662/e"} xref: OMIM:616964 {source="MONDO:equivalentObsolete"} @@ -281571,8 +289792,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014090 name: polydactyly, postaxial, type A6 +subset: gard_rare {source="GARD:18176"} synonym: "PAPA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615226] synonym: "polydactyly, postaxial, type A6" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615226] +xref: GARD:18176 {source="OMIM:615226"} xref: OMIM:615226 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:615226"} xref: UMLS:C3808889 {source="OMIM:615226", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281584,6 +289807,7 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0014091 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4 def: "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18667"} synonym: "ATP5F1A mitochondrial complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MC5DN4" EXACT ABBREVIATION [DOID:0060333, MONDO:Lexical, OMIM:615228] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type" RELATED [OMIM:615228] @@ -281591,6 +289815,7 @@ synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" REL synonym: "mitochondrial complex deficiency caused by mutation in ATP5F1A" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615228] xref: DOID:0060333 {source="MONDO:equivalentTo"} +xref: GARD:18667 {source="OMIM:615228"} xref: ICD10CM:E88.8 {source="DOID:0060333"} xref: OMIM:615228 {source="DOID:0060333", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="OMIM:615228", source="DOID:0060333"} @@ -281631,12 +289856,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014093 name: retinitis pigmentosa 66 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15923"} synonym: "RBP3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 66" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615233] synonym: "retinitis pigmentosa caused by mutation in RBP3" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 66" EXACT [DOID:0110393, MONDORULE:2, OMIM:615233] synonym: "RP66" EXACT ABBREVIATION [DOID:0110393, MONDO:Lexical, OMIM:615233] xref: DOID:0110393 {source="MONDO:equivalentTo"} +xref: GARD:15923 {source="OMIM:615233"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110393"} xref: OMIM:615233 {source="MONDO:equivalentTo", source="DOID:0110393"} xref: Orphanet:791 {source="OMIM:615233"} @@ -281650,12 +289877,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014094 name: severe congenital hypochromic anemia with ringed sideroblasts def: "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." [Orphanet:300298] +subset: gard_rare {source="GARD:17364"} subset: ordo_disease {source="Orphanet:300298"} synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234] synonym: "severe congenital hypochromic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298] +xref: GARD:17364 {source="Orphanet:300298"} xref: ICD10CM:D64.0 {source="Orphanet:300298", source="Orphanet:300298/attributed", source="Orphanet:300298/ntbt"} xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="Orphanet:300298/e"} xref: Orphanet:300298 {source="OMIM:615234", source="MONDO:equivalentTo"} @@ -281675,6 +289904,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014095 name: dilated cardiomyopathy 1JJ def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15924"} synonym: "cardiomyopathy, dilated, 1JJ" RELATED [MONDO:Lexical, OMIM:615235] synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9, OMIM:615235] synonym: "CMD1JJ" EXACT ABBREVIATION [DOID:0110438, MONDO:Lexical, OMIM:615235] @@ -281682,6 +289912,7 @@ synonym: "dilated cardiomyopathy type 1JJ" EXACT [DOID:0110438, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" EXACT [MONDO:design_pattern] synonym: "LAMA4 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110438 {source="MONDO:equivalentTo"} +xref: GARD:15924 {source="OMIM:615235"} xref: ICD10CM:I42.0 {source="DOID:0110438"} xref: OMIM:615235 {source="DOID:0110438", source="MONDO:equivalentTo"} xref: UMLS:C3808935 {source="OMIM:615235", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281693,7 +289924,6 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0014096 name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome def: "This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." [Orphanet:137658] -subset: gard_rare {source="GARD:0003498"} subset: ordo_malformation_syndrome {source="Orphanet:137658"} synonym: "WOODS syndrome" RELATED [OMIM:615236] synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658] @@ -281712,9 +289942,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3498/microce id: MONDO:0014097 name: congenital short bowel syndrome def: "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." [Orphanet:2301] +subset: gard_rare {source="GARD:16592"} subset: ordo_morphological_anomaly {source="Orphanet:2301"} synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237] synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615237] +xref: GARD:16592 {source="Orphanet:2301"} xref: ICD10CM:Q43.8 {source="Orphanet:2301/attributed", source="Orphanet:2301/ntbt", source="Orphanet:2301"} xref: Orphanet:2301 {source="OMIM:615237", source="MONDO:equivalentTo"} xref: SCTID:715201005 {source="MONDO:equivalentTo"} @@ -281728,6 +289960,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014098 name: CIDEC-related familial partial lipodystrophy +subset: gard_rare {source="GARD:13125"} subset: ordo_disease {source="Orphanet:435651"} synonym: "CIDEC-related familial partial lipodystrophy" EXACT CLINGEN_PREFERRED [] synonym: "CIDEC-related FPLD" EXACT [Orphanet:435651] @@ -281735,6 +289968,7 @@ synonym: "FPLD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615238, Orphanet:435651 synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELATED [OMIM:615238] synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical, OMIM:615238] xref: DOID:0070203 {source="MONDO:equivalentTo"} +xref: GARD:13125 {source="Orphanet:435651"} xref: ICD10CM:E88.1 {source="Orphanet:435651/attributed", source="Orphanet:435651/ntbt", source="Orphanet:435651"} xref: OMIM:615238 {source="Orphanet:435651/e", source="MONDO:equivalentTo", source="Orphanet:435651"} xref: Orphanet:435651 {source="MONDO:equivalentTo"} @@ -281747,11 +289981,13 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014099 name: nephrotic syndrome, type 8 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15925"} synonym: "ARHGDIA nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nephrotic syndrome caused by mutation in ARHGDIA" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 8" EXACT [MONDO:Lexical, OMIM:615244] synonym: "NPHS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615244] xref: DOID:0080389 {source="MONDO:equivalentTo"} +xref: GARD:15925 {source="OMIM:615244"} xref: OMIM:615244 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:615244"} xref: UMLS:C3808953 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615244"} @@ -281768,6 +290004,7 @@ id: MONDO:0014100 name: dilated cardiomyopathy 1KK def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:15926"} synonym: "cardiomyopathy, dilated, 1KK" RELATED [MONDO:Lexical, OMIM:615248] synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9, OMIM:615248] synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [OMIM:615248] @@ -281778,6 +290015,7 @@ synonym: "dilated cardiomyopathy caused by mutation in MYPN" EXACT [MONDO:design synonym: "dilated cardiomyopathy type 1KK" EXACT [DOID:0110445, MONDORULE:9] synonym: "MYPN dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110445 {source="MONDO:equivalentTo"} +xref: GARD:15926 {source="OMIM:615248"} xref: ICD10CM:I42.0 {source="DOID:0110445"} xref: OMIM:615248 {source="DOID:0110445", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:615248", source="MONDO:relatedTo"} @@ -281798,6 +290036,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014101 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15927"} synonym: "MDDGA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" RELATED [OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249] @@ -281805,6 +290044,7 @@ synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in PO synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [OMIM:615249] xref: DOID:0111235 {source="MONDO:equivalentTo"} +xref: GARD:15927 {source="OMIM:615249"} xref: OMIM:615249 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615249"} xref: UMLS:C3808964 {source="OMIM:615249", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281820,11 +290060,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014102 name: hypogonadotropic hypogonadism 17 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15928"} synonym: "HH17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615266] synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615266] synonym: "hypogonadotropic hypogonadism caused by mutation in SPRY4" EXACT [MONDO:design_pattern] synonym: "SPRY4 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090079 {source="MONDO:equivalentTo"} +xref: GARD:15928 {source="OMIM:615266"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090079"} xref: OMIM:615266 {source="MONDO:equivalentTo", source="DOID:0090079"} xref: Orphanet:478 {source="OMIM:615266"} @@ -281840,12 +290082,14 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014103 name: hypogonadotropic hypogonadism 18 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15929"} synonym: "HH18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615267] synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615267] synonym: "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant" EXACT [OMIM:615267, OMIM:genemap2] synonym: "hypogonadotropic hypogonadism caused by mutation in IL17RD" EXACT [MONDO:design_pattern] synonym: "IL17RD hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090076 {source="MONDO:equivalentTo"} +xref: GARD:15929 {source="OMIM:615267"} xref: ICD10CM:E23.0 {source="DOID:0090076", source="MONDO:relatedTo"} xref: OMIM:615267 {source="DOID:0090076", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="OMIM:615267"} @@ -281862,6 +290106,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014104 name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15930"} synonym: "ATP8A2 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAMRQ4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615268] synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4" RELATED [OMIM:615268] @@ -281871,6 +290116,7 @@ synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrom synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT DEPRECATED [MONDO:Lexical, OMIM:615268] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615268] synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:design_pattern] +xref: GARD:15930 {source="OMIM:615268"} xref: OMIM:615268 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:615268"} xref: UMLS:C3808977 {source="OMIM:615268", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281884,11 +290130,13 @@ property_value: confidence "1.7625263157894744" xsd:double id: MONDO:0014105 name: hypogonadotropic hypogonadism 19 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15931"} synonym: "DUSP6 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615269] synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615269] synonym: "hypogonadotropic hypogonadism caused by mutation in DUSP6" EXACT [MONDO:design_pattern] xref: DOID:0090090 {source="MONDO:equivalentTo"} +xref: GARD:15931 {source="OMIM:615269"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090090"} xref: OMIM:615269 {source="MONDO:equivalentTo", source="DOID:0090090"} xref: UMLS:C3808981 {source="OMIM:615269", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -281903,11 +290151,13 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014106 name: hypogonadotropic hypogonadism 20 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15932"} synonym: "FGF17 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615270] synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615270] synonym: "hypogonadotropic hypogonadism caused by mutation in FGF17" EXACT [MONDO:design_pattern] xref: DOID:0090082 {source="MONDO:equivalentTo"} +xref: GARD:15932 {source="OMIM:615270"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090082"} xref: OMIM:615270 {source="MONDO:equivalentTo", source="DOID:0090082"} xref: UMLS:C3808983 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615270"} @@ -281922,12 +290172,14 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014107 name: hypogonadotropic hypogonadism 21 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15933"} synonym: "FLRT3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615271] synonym: "hypogonadotropic hypogonadism 21 with anosmia" EXACT [OMIM:615271, OMIM:genemap2] synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615271] synonym: "hypogonadotropic hypogonadism caused by mutation in FLRT3" EXACT [MONDO:design_pattern] xref: DOID:0090093 {source="MONDO:equivalentTo"} +xref: GARD:15933 {source="OMIM:615271"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090093"} xref: OMIM:615271 {source="MONDO:equivalentTo", source="DOID:0090093"} xref: Orphanet:478 {source="OMIM:615271"} @@ -281944,6 +290196,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014108 name: Fanconi anemia complementation group Q def: "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15934"} synonym: "ERCC4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi anaemia caused by mutation in ERCC4" EXACT OMO:0003005 [] @@ -281954,6 +290207,7 @@ synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical, OMIM: synonym: "Fanconi Anemia, complementation group type Q" EXACT [MONDORULE:1, OMIM:615272] synonym: "FANCQ" EXACT ABBREVIATION [DOID:0111093, MONDO:Lexical, OMIM:615272] xref: DOID:0111093 {source="MONDO:equivalentTo"} +xref: GARD:15934 {source="OMIM:615272"} xref: OMIM:615272 {source="DOID:0111093", source="MONDO:equivalentTo"} xref: UMLS:C3808988 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615272"} is_a: MONDO:0019391 {source="DC-OMIM:615272", source="DOID:0111093", source="MONDO:Redundant", source="OMIM:615272"} ! Fanconi anemia @@ -282023,6 +290277,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0014112 name: cardiofaciocutaneous syndrome 2 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15935"} synonym: "cardiofaciocutaneous syndrome 2" EXACT [MONDO:Lexical, OMIM:615278] synonym: "cardiofaciocutaneous syndrome caused by mutation in KRAS" EXACT [] synonym: "cardiofaciocutaneous syndrome caused by mutation in kras" EXACT [MONDO:design_pattern] @@ -282031,6 +290286,7 @@ synonym: "CFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615278] synonym: "KRAS cardiofaciocutaneous syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "kras cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] xref: DOID:0111461 {source="MONDO:equivalentTo"} +xref: GARD:15935 {source="OMIM:615278"} xref: OMIM:615278 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615278"} xref: UMLS:C3809005 {source="OMIM:615278", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282044,12 +290300,14 @@ property_value: confidence "0.42450142450142425" xsd:double id: MONDO:0014113 name: cardiofaciocutaneous syndrome 3 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15936"} synonym: "cardiofaciocutaneous syndrome 3" EXACT [MONDO:Lexical, OMIM:615279] synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1, OMIM:615279] synonym: "CFC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615279] synonym: "MAP2K1 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111462 {source="MONDO:equivalentTo"} +xref: GARD:15936 {source="OMIM:615279"} xref: OMIM:615279 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615279"} xref: UMLS:C3809006 {source="OMIM:615279", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282063,12 +290321,14 @@ property_value: confidence "0.42450142450142425" xsd:double id: MONDO:0014114 name: cardiofaciocutaneous syndrome 4 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15937"} synonym: "cardiofaciocutaneous syndrome 4" EXACT [MONDO:Lexical, OMIM:615280] synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K2" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1, OMIM:615280] synonym: "CFC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615280] synonym: "MAP2K2 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111463 {source="MONDO:equivalentTo"} +xref: GARD:15937 {source="OMIM:615280"} xref: OMIM:615280 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615280"} xref: UMLS:C3809007 {source="MONDO:equivalentTo", source="OMIM:615280", source="MONDO:ncbi_mim2gene_medline"} @@ -282081,10 +290341,12 @@ property_value: confidence "0.42450142450142425" xsd:double [Term] id: MONDO:0014115 name: hypomyelination with brain stem and spinal cord involvement and leg spasticity +subset: gard_rare {source="GARD:17554"} subset: ordo_disease {source="Orphanet:363412"} synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281] synonym: "HBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615281, Orphanet:363412] synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281] +xref: GARD:17554 {source="Orphanet:363412"} xref: ICD10CM:E75.2 {source="Orphanet:363412", source="Orphanet:363412/attributed", source="Orphanet:363412/ntbt"} xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="Orphanet:363412/e"} xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"} @@ -282116,6 +290378,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014117 name: Charcot-Marie-Tooth disease type 4B3 def: "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." [Orphanet:363981] +subset: gard_rare {source="GARD:17578"} subset: ordo_disease {source="Orphanet:363981"} synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981] @@ -282123,6 +290386,7 @@ synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:61 synonym: "CMT4B3" EXACT ABBREVIATION [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981] synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110194 {source="MONDO:equivalentTo"} +xref: GARD:17578 {source="Orphanet:363981"} xref: ICD10CM:G60.0 {source="Orphanet:363981/attributed", source="Orphanet:363981/ntbt", source="Orphanet:363981", source="DOID:0110194"} xref: OMIM:615284 {source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo", source="Orphanet:363981/e"} xref: Orphanet:363981 {source="DOID:0110194", source="MONDO:equivalentTo", source="OMIM:615284"} @@ -282138,12 +290402,14 @@ property_value: confidence "131.4999999999979" xsd:double [Term] id: MONDO:0014118 name: congenital neutropenia-myelofibrosis-nephromegaly syndrome +subset: gard_rare {source="GARD:17585"} subset: ordo_disease {source="Orphanet:369852"} synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [Orphanet:369852] synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285] synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615285] synonym: "vps45 deficiency" EXACT [Orphanet:369852] xref: DOID:0112132 {source="MONDO:equivalentTo"} +xref: GARD:17585 {source="Orphanet:369852"} xref: ICD10CM:D70 {source="Orphanet:369852", source="Orphanet:369852/attributed", source="Orphanet:369852/ntbt"} xref: OMIM:615285 {source="Orphanet:369852", source="MONDO:equivalentTo", source="Orphanet:369852/e"} xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"} @@ -282162,6 +290428,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014119 name: intellectual disability-strabismus syndrome +subset: gard_rare {source="GARD:17563"} subset: ordo_disease {source="Orphanet:363528"} synonym: "intellectual disability, autosomal recessive 36" RELATED [MONDO:Lexical, OMIM:615286] synonym: "intellectual disability, autosomal recessive type 36" EXACT [MONDORULE:2, OMIM:615286] @@ -282170,6 +290437,7 @@ synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MON synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [OMIM:615286, OMIM:genemap2] xref: DOID:0081099 {source="MONDO:equivalentTo"} +xref: GARD:17563 {source="Orphanet:363528"} xref: ICD10CM:H50.8 {source="Orphanet:363528/attributed", source="Orphanet:363528/ntbt", source="Orphanet:363528"} xref: OMIM:615286 {source="Orphanet:363528/e", source="MONDO:equivalentTo", source="Orphanet:363528"} xref: Orphanet:363528 {source="MONDO:equivalentTo", source="OMIM:615286"} @@ -282189,10 +290457,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014120 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +subset: gard_rare {source="GARD:15938"} synonym: "MDDGA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615287] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical, OMIM:615287] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [OMIM:615287] xref: DOID:0111238 {source="MONDO:equivalentTo"} +xref: GARD:15938 {source="OMIM:615287"} xref: OMIM:615287 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615287"} xref: UMLS:C3809042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615287"} @@ -282205,6 +290475,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014121 name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +subset: gard_rare {source="GARD:13222"} subset: ordo_clinical_subtype {source="Orphanet:363454"} synonym: "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2" RELATED [GARD:0013222] synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [Orphanet:363454] @@ -282213,6 +290484,7 @@ synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal domi synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [OMIM:615290, OMIM:genemap2] xref: DOID:0070349 {source="MONDO:equivalentTo"} +xref: GARD:13222 {source="Orphanet:363454"} xref: ICD10CM:G12.1 {source="Orphanet:363454/attributed", source="Orphanet:363454/ntbt", source="Orphanet:363454"} xref: OMIM:615290 {source="Orphanet:363454", source="MONDO:equivalentTo", source="Orphanet:363454/e"} xref: Orphanet:363447 {source="OMIM:615290"} @@ -282228,12 +290500,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014122 name: myofibromatosis, infantile, 2 def: "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15939"} synonym: "IMF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615293] synonym: "myofibromatosis caused by mutation in NOTCH3" EXACT [MONDO:design_pattern] synonym: "myofibromatosis, infantile 2" EXACT [OMIM:615293, OMIM:genemap2] synonym: "myofibromatosis, infantile, 2" EXACT [MONDO:Lexical, OMIM:615293] synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1, OMIM:615293] synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15939 {source="OMIM:615293"} xref: OMIM:615293 {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="OMIM:615293"} xref: UMLS:C3809084 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615293"} @@ -282248,6 +290522,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014123 name: primary ciliary dyskinesia 21 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15940"} synonym: "CILD21" EXACT ABBREVIATION [DOID:0110596, MONDO:Lexical, OMIM:615294] synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical, OMIM:615294] synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [OMIM:615294] @@ -282257,6 +290532,7 @@ synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [DOID:0110 synonym: "primary ciliary dyskinesia caused by mutation in DRC1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 21" EXACT [DOID:0110596, MONDORULE:2] xref: DOID:0110596 {source="MONDO:equivalentTo"} +xref: GARD:15940 {source="OMIM:615294"} xref: ICD10CM:Q34.8 {source="DOID:0110596"} xref: OMIM:615294 {source="MONDO:equivalentTo", source="DOID:0110596"} xref: UMLS:C3809087 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615294"} @@ -282269,11 +290545,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014124 name: Adams-Oliver syndrome 4 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15941"} synonym: "Adams-Oliver syndrome 4" EXACT [MONDO:Lexical, OMIM:615297] synonym: "Adams-Oliver syndrome caused by mutation in EOGT" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1, OMIM:615297] synonym: "AOS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615297] synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15941 {source="OMIM:615297"} xref: OMIM:615297 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:615297"} xref: UMLS:C3809092 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615297"} @@ -282289,12 +290567,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014125 name: symphalangism, proximal, 1B def: "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15942"} synonym: "GDF5 proximal symphalangism (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "proximal symphalangism (disease) caused by mutation in GDF5" EXACT [] synonym: "SYM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615298] synonym: "symphalangism, proximal, 1B" EXACT [MONDO:Lexical, OMIM:615298] synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4, OMIM:615298] xref: DOID:0080788 {source="MONDO:equivalentTo"} +xref: GARD:15942 {source="OMIM:615298"} xref: OMIM:615298 {source="MONDO:equivalentTo"} xref: Orphanet:3250 {source="OMIM:615298"} xref: UMLS:C3809104 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615298"} @@ -282308,11 +290588,13 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014126 name: Perrault syndrome 4 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15943"} synonym: "LARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 4" EXACT [MONDO:Lexical, OMIM:615300] synonym: "Perrault syndrome caused by mutation in LARS2" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1, OMIM:615300] synonym: "PRLTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615300] +xref: GARD:15943 {source="OMIM:615300"} xref: OMIM:615300 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:615300"} xref: UMLS:C3809105 {source="OMIM:615300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282327,11 +290609,13 @@ property_value: confidence "1.4822000130642108" xsd:double id: MONDO:0014127 name: oculocutaneous albinism type 5 def: "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." [Orphanet:370091] +subset: gard_rare {source="GARD:17598"} subset: ordo_disease {source="Orphanet:370091"} synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312] synonym: "OCA5" EXACT ABBREVIATION [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091] synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099] xref: DOID:0070099 {source="MONDO:equivalentTo"} +xref: GARD:17598 {source="Orphanet:370091"} xref: ICD10CM:E70.3 {source="Orphanet:370091/attributed", source="Orphanet:370091/ntbt", source="Orphanet:370091"} xref: OMIM:615312 {source="DOID:0070099", source="Orphanet:370091/e", source="MONDO:equivalentTo", source="Orphanet:370091"} xref: Orphanet:370091 {source="OMIM:615312", source="MONDO:equivalentTo"} @@ -282346,12 +290630,14 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014128 name: TCF12-related craniosynostosis def: "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:23354436] +subset: gard_rare {source="GARD:18047"} synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314] synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern] synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314] synonym: "CRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615314] synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TCF12-related craniosynostosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:18047 {source="OMIM:615314"} xref: OMIM:615314 {source="MONDO:equivalentTo"} xref: Orphanet:35098 {source="OMIM:615314"} xref: Orphanet:35099 {source="OMIM:615314"} @@ -282379,11 +290665,13 @@ replaced_by: MONDO:0011076 id: MONDO:0014130 name: Dowling-Degos disease 2 def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15944"} synonym: "DDD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615327] synonym: "Dowling-Degos disease 2" EXACT [MONDO:Lexical, OMIM:615327] synonym: "Dowling-Degos disease caused by mutation in POFUT1" EXACT [MONDO:design_pattern] synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1, OMIM:615327] synonym: "POFUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15944 {source="OMIM:615327"} xref: OMIM:615327 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:615327"} xref: UMLS:C3809147 {source="OMIM:615327", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282397,9 +290685,11 @@ property_value: confidence "1.323033492822967" xsd:double [Term] id: MONDO:0014131 name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +subset: gard_rare {source="GARD:17562"} subset: ordo_disease {source="Orphanet:363523"} synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328] synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615328] +xref: GARD:17562 {source="Orphanet:363523"} xref: ICD10CM:Q82.8 {source="Orphanet:363523", source="Orphanet:363523/attributed", source="Orphanet:363523/ntbt"} xref: OMIM:615328 {source="MONDO:equivalentTo", source="Orphanet:363523", source="Orphanet:363523/e"} xref: Orphanet:363523 {source="MONDO:equivalentTo", source="OMIM:615328"} @@ -282416,6 +290706,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014132 name: multiple mitochondrial dysfunctions syndrome 3 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17555"} subset: ordo_disease {source="Orphanet:363424"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern] synonym: "IBA57 deficiency" EXACT [Orphanet:363424] @@ -282424,6 +290715,7 @@ synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330] xref: DOID:0080135 {source="MONDO:equivalentTo"} +xref: GARD:17555 {source="Orphanet:363424"} xref: ICD10CM:G31.8 {source="Orphanet:363424", source="Orphanet:363424/attributed", source="Orphanet:363424/ntbt"} xref: OMIM:615330 {source="MONDO:equivalentTo", source="DOID:0080135", source="Orphanet:363424", source="Orphanet:363424/e"} xref: Orphanet:289573 {source="OMIM:615330"} @@ -282438,12 +290730,14 @@ property_value: confidence "2.6923076923076925" xsd:double [Term] id: MONDO:0014133 name: developmental and epileptic encephalopathy, 16 +subset: gard_rare {source="GARD:15945"} synonym: "DEE16" EXACT ABBREVIATION [OMIM:615338] synonym: "developmental and epileptic encephalopathy 16" EXACT [OMIM:615338, OMIM:genemap2] synonym: "EIEE16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615338] synonym: "epileptic encephalopathy, early infantile, 16" EXACT [MONDO:Lexical, OMIM:615338] synonym: "epileptic encephalopathy, early infantile, type 16" EXACT [MONDORULE:2, OMIM:615338] xref: DOID:0080449 {source="MONDO:equivalentTo"} +xref: GARD:15945 {source="OMIM:615338"} xref: OMIM:615338 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:615338"} xref: Orphanet:352596 {source="MONDO:relatedTo", source="OMIM:615338"} @@ -282457,11 +290751,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014134 name: pulmonary hypertension, primary, 2 def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18394"} synonym: "PPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615342] synonym: "primary pulmonary hypertension caused by mutation in SMAD9" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 2" EXACT [MONDO:Lexical, OMIM:615342] synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1, OMIM:615342] synonym: "SMAD9 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18394 {source="OMIM:615342"} xref: OMIM:615342 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="OMIM:615342"} xref: UMLS:C1423690 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:615342"} @@ -282531,6 +290827,7 @@ property_value: confidence "29.999999999999957" xsd:double id: MONDO:0014138 name: nemaline myopathy 8 def: "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129871] +subset: gard_rare {source="GARD:15946"} synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM8" EXACT ABBREVIATION [DOID:0110930, MONDO:Lexical, OMIM:615348] synonym: "nemaline myopathy 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615348] @@ -282538,6 +290835,7 @@ synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930] synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1, OMIM:615348] xref: DOID:0110930 {source="MONDO:equivalentTo"} +xref: GARD:15946 {source="OMIM:615348"} xref: NCIT:C129871 {source="MONDO:equivalentTo"} xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:615348"} @@ -282554,6 +290852,7 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0014139 name: Ehlers-Danlos syndrome, spondylodysplastic type, 2 def: "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17974", source="GARD:15947"} subset: ordo_subtype_of_a_disorder synonym: "B3GALT6 Ehlers-Danlos syndrome progeroid type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "B3GALT6-related spEDS" EXACT [Orphanet:536467] @@ -282567,6 +290866,8 @@ synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical, OMIM: synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [OMIM:615349] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2" EXACT [OMIM:615349] synonym: "spEDS-B3GALT6" EXACT [Orphanet:536467] +xref: GARD:15947 {source="OMIM:615349"} +xref: GARD:17974 {source="Orphanet:536467"} xref: ICD10CM:Q79.6 {source="MONDO:mondoSubClassOfSource", source="Orphanet:536467"} xref: OMIM:615349 {source="MONDO:equivalentTo", source="Orphanet:536467"} xref: Orphanet:536467 {source="MONDO:equivalentTo"} @@ -282581,11 +290882,13 @@ property_value: confidence "0.924259768009768" xsd:double [Term] id: MONDO:0014140 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +subset: gard_rare {source="GARD:15948"} synonym: "MDDGA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615350] synonym: "muscle-eye-brain-GMPPB related" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical, OMIM:615350] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [OMIM:615350] xref: DOID:0111233 {source="MONDO:equivalentTo"} +xref: GARD:15948 {source="OMIM:615350"} xref: OMIM:615350 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:615350"} xref: UMLS:C3809216 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615350"} @@ -282620,6 +290923,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014142 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." [Orphanet:363623] +subset: gard_rare {source="GARD:12544"} subset: ordo_disease {source="Orphanet:363623"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" EXACT [MONDO:design_pattern] synonym: "GMPPB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -282634,6 +290938,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELAT synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [DOID:0110294] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [OMIM:615352] xref: DOID:0110294 {source="MONDO:equivalentTo"} +xref: GARD:12544 {source="Orphanet:363623"} xref: ICD10CM:G71.0 {source="DOID:0110294"} xref: ICD10CM:G71.2 {source="Orphanet:363623", source="Orphanet:363623/attributed", source="Orphanet:363623/ntbt"} xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="Orphanet:363623/e"} @@ -282653,12 +290958,14 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0014143 name: Noonan syndrome 8 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15949"} synonym: "Noonan syndrome 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615355] synonym: "Noonan syndrome caused by mutation in RIT1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 8" EXACT [DOID:0060586, MONDORULE:1, OMIM:615355] synonym: "NS8" EXACT ABBREVIATION [DOID:0060586, MONDO:Lexical, OMIM:615355] synonym: "RIT1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060586 {source="MONDO:equivalentTo"} +xref: GARD:15949 {source="OMIM:615355"} xref: NCIT:C176936 {source="MONDO:equivalentTo"} xref: OMIM:615355 {source="DOID:0060586", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:615355"} @@ -282673,6 +290980,7 @@ property_value: confidence "1.9999999999999991" xsd:double id: MONDO:0014144 name: autosomal recessive limb-girdle muscular dystrophy type R18 def: "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." [https://orcid.org/0000-0001-5208-3432, Orphanet:369840, PMID:30055862] +subset: gard_rare {source="GARD:12543"} subset: ordo_disease {source="Orphanet:369840"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2S" EXACT [Orphanet:369840] @@ -282682,6 +290990,7 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 18" EXACT [OMIM:6 synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356] synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110287 {source="MONDO:equivalentTo"} +xref: GARD:12543 {source="Orphanet:369840"} xref: ICD10CM:G71.0 {source="Orphanet:369840", source="Orphanet:369840/attributed", source="Orphanet:369840/ntbt", source="DOID:0110287"} xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="Orphanet:369840/e", source="DOID:0110287"} xref: Orphanet:369840 {source="OMIM:615356", source="MONDO:equivalentTo", source="DOID:0110287"} @@ -282699,12 +291008,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014145 name: Leber congenital amaurosis 17 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15950"} synonym: "GDF6 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA17" EXACT ABBREVIATION [DOID:0110217, MONDO:Lexical, OMIM:615360] synonym: "Leber congenital amaurosis 17" EXACT [MONDO:Lexical, OMIM:615360] synonym: "Leber congenital amaurosis caused by mutation in GDF6" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 17" EXACT [DOID:0110217, MONDORULE:2, OMIM:615360] xref: DOID:0110217 {source="MONDO:equivalentTo"} +xref: GARD:15950 {source="OMIM:615360"} xref: ICD10CM:H35.5 {source="DOID:0110217", source="MONDO:relatedTo"} xref: OMIM:615360 {source="DOID:0110217", source="MONDO:equivalentTo"} xref: UMLS:C3715164 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615360"} @@ -282719,11 +291030,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014146 name: autosomal dominant hypocalcemia 2 def: "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0090108] +subset: gard_rare {source="GARD:15951"} synonym: "autosomal dominant hypocalcemia type 2" EXACT [DOID:0090108, MONDORULE:1] synonym: "HYPOC2" EXACT ABBREVIATION [DOID:0090108, MONDO:Lexical, OMIM:615361] synonym: "hypocalcemia, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:615361] synonym: "hypocalcemia, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:615361] xref: DOID:0090108 {source="MONDO:equivalentTo"} +xref: GARD:15951 {source="OMIM:615361"} xref: OMIM:615361 {source="MONDO:equivalentTo", source="DOID:0090108"} xref: Orphanet:2238 {source="OMIM:615361"} xref: Orphanet:428 {source="OMIM:615361"} @@ -282735,6 +291048,7 @@ property_value: confidence "0.11111111111111116" xsd:double id: MONDO:0014147 name: neuronal ceroid lipofuscinosis 13 def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17527"} subset: ordo_etiological_subtype {source="Orphanet:352709"} synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical, OMIM:615362] synonym: "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" EXACT [OMIM:615362, OMIM:genemap2] @@ -282747,6 +291061,7 @@ synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2] xref: DOID:0110727 {source="MONDO:equivalentTo"} +xref: GARD:17527 {source="Orphanet:352709"} xref: ICD10CM:E75.4 {source="Orphanet:352709/attributed", source="Orphanet:352709/ntbt", source="Orphanet:352709", source="DOID:0110727"} xref: OMIM:615362 {source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo", source="Orphanet:352709/e"} xref: Orphanet:352709 {source="DOID:0110727", source="MONDO:equivalentTo", source="OMIM:615362"} @@ -282764,6 +291079,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014148 name: estrogen resistance syndrome def: "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." [Orphanet:785] +subset: gard_rare {source="GARD:16548"} subset: ordo_disease {source="Orphanet:785"} synonym: "estrogen insensitivity" RELATED [OMIM:615363] synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363] @@ -282771,6 +291087,7 @@ synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615363] synonym: "oestrogen insensitivity" RELATED OMO:0003005 [] synonym: "oestrogen resistance" RELATED OMO:0003005 [] xref: EFO:0009042 {source="MONDO:equivalentTo"} +xref: GARD:16548 {source="Orphanet:785"} xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="Orphanet:785/e"} xref: Orphanet:785 {source="MONDO:equivalentTo", source="OMIM:615363"} xref: SCTID:724555000 {source="MONDO:equivalentTo"} @@ -282790,11 +291107,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014149 name: fetal akinesia-cerebral and retinal hemorrhage syndrome def: "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." [Orphanet:363409] +subset: gard_rare {source="GARD:17553"} subset: ordo_disease {source="Orphanet:363409"} synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368] synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368] +xref: GARD:17553 {source="Orphanet:363409"} xref: ICD10CM:G71.2 {source="Orphanet:363409/attributed", source="Orphanet:363409/ntbt", source="Orphanet:363409"} xref: OMIM:615368 {source="Orphanet:363409/e", source="MONDO:equivalentTo", source="Orphanet:363409"} xref: Orphanet:363409 {source="OMIM:615368", source="MONDO:equivalentTo"} @@ -282809,6 +291128,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014150 name: developmental and epileptic encephalopathy 94 def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." [DOID:0060475, OMIM:615369, PMID:23708187, PMID:24207121] +subset: gard_rare {source="GARD:13197"} synonym: "CHCHD10-related disorders" RELATED [GARD:0013197] synonym: "CHD2 myoclonic encephalopathy" RELATED [GARD:0013197] synonym: "childhood onset epileptic encephalopathy" EXACT CLINGEN_PREFERRED [DOID:0060475] @@ -282818,6 +291138,7 @@ synonym: "developmental and epileptic encephalopathy 94" EXACT [OMIM:615369] synonym: "EEOC" EXACT ABBREVIATION [DOID:0060475, MONDO:Lexical, OMIM:615369] synonym: "epileptic encephalopathy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615369] xref: DOID:0081325 {source="MONDO:equivalentTo"} +xref: GARD:13197 {source="OMIM:615369"} xref: OMIM:615369 {source="DOID:0060475", source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="OMIM:615369"} xref: Orphanet:2382 {source="OMIM:615369"} @@ -282849,6 +291170,7 @@ id: MONDO:0014152 name: left ventricular noncompaction 8 def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." [MONDO:patterns/disease_series_by_gene] comment: This appears in the series 115200 because of an included entity. {source="OMIM:615373"} +subset: gard_rare {source="GARD:15952"} synonym: "cardiomyopathy, dilated, 1Ll" RELATED [OMIM:615373] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 8" EXACT [MONDO:Lexical, OMIM:615373] @@ -282856,6 +291178,7 @@ synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1, OMIM:615373 synonym: "LVNC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615373] synonym: "PRDM16 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081157 {source="MONDO:equivalentTo"} +xref: GARD:15952 {source="OMIM:615373"} xref: OMIM:615373 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:615373"} xref: UMLS:C3809288 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615373"} @@ -282868,12 +291191,14 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0014153 name: cone-rod dystrophy 18 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15953"} synonym: "cone-rod dystrophy 18" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615374] synonym: "cone-rod dystrophy caused by mutation in RAB28" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 18" EXACT [DOID:0111024, MONDORULE:2, OMIM:615374] synonym: "CORD18" EXACT ABBREVIATION [DOID:0111024, MONDO:Lexical, OMIM:615374] synonym: "RAB28 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111024 {source="MONDO:equivalentTo"} +xref: GARD:15953 {source="OMIM:615374"} xref: OMIM:615374 {source="MONDO:equivalentTo", source="DOID:0111024"} xref: Orphanet:1872 {source="OMIM:615374"} xref: UMLS:C3809299 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615374"} @@ -282888,6 +291213,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014154 name: Charcot-Marie-Tooth disease recessive intermediate C def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." [Orphanet:369867] +subset: gard_rare {source="GARD:17587"} subset: ordo_disease {source="Orphanet:369867"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198] synonym: "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern] @@ -282900,6 +291226,7 @@ synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MOND synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867] synonym: "RI-CMTC" EXACT [DOID:0110198] xref: DOID:0110198 {source="MONDO:equivalentTo"} +xref: GARD:17587 {source="Orphanet:369867"} xref: ICD10CM:G60.0 {source="Orphanet:369867/attributed", source="Orphanet:369867/ntbt", source="Orphanet:369867", source="DOID:0110198"} xref: OMIM:615376 {source="Orphanet:369867", source="MONDO:equivalentTo", source="DOID:0110198", source="Orphanet:369867/e"} xref: Orphanet:369867 {source="MONDO:equivalentTo", source="DOID:0110198", source="OMIM:615376"} @@ -282915,11 +291242,13 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0014155 name: atrial fibrillation, familial, 13 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15954"} synonym: "ATFB13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615377] synonym: "atrial fibrillation, familial, 13" EXACT [MONDO:Lexical, OMIM:615377] synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2, OMIM:615377] synonym: "familial atrial fibrillation caused by mutation in SCN1B" EXACT [MONDO:design_pattern] synonym: "SCN1B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15954 {source="OMIM:615377"} xref: OMIM:615377 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:615377"} xref: UMLS:C3809311 {source="OMIM:615377", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282932,11 +291261,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014156 name: atrial fibrillation, familial, 14 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15955"} synonym: "ATFB14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615378] synonym: "atrial fibrillation, familial, 14" EXACT [MONDO:Lexical, OMIM:615378] synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2, OMIM:615378] synonym: "familial atrial fibrillation caused by mutation in SCN2B" EXACT [MONDO:design_pattern] synonym: "SCN2B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15955 {source="OMIM:615378"} xref: OMIM:615378 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:615378"} xref: UMLS:C3809312 {source="OMIM:615378", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -282948,12 +291279,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014157 name: mandibular hypoplasia-deafness-progeroid syndrome +subset: gard_rare {source="GARD:10989"} subset: ordo_disease {source="Orphanet:363649"} synonym: "mandibular hypoplasia, deafness, progeroid features" RELATED [GARD:0010989] synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical, OMIM:615381] synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet:363649] synonym: "MDP syndrome" EXACT [Orphanet:363649] synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615381] +xref: GARD:10989 {source="Orphanet:363649"} xref: ICD10CM:E34.8 {source="Orphanet:363649/attributed", source="Orphanet:363649/ntbt", source="Orphanet:363649"} xref: OMIM:615381 {source="Orphanet:363649/e", source="MONDO:equivalentTo", source="Orphanet:363649"} xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"} @@ -282968,6 +291301,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014158 name: nephronophthisis 16 def: "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18183"} subset: ordo_clinical_subtype {source="Orphanet:93591"} synonym: "ANKS6 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive infantile nephronophthisis" RELATED [Orphanet:93591] @@ -282978,6 +291312,7 @@ synonym: "nephronophthisis 16" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:6153 synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382] synonym: "NPHP16" EXACT ABBREVIATION [DOID:0111124, MONDO:Lexical, OMIM:615382] xref: DOID:0111124 {source="MONDO:equivalentTo"} +xref: GARD:18183 {source="OMIM:615382"} xref: ICD10CM:Q61.5 {source="Orphanet:93591/attributed", source="Orphanet:93591/ntbt", source="Orphanet:93591"} xref: OMIM:615382 {source="MONDO:equivalentTo", source="DOID:0111124", source="Orphanet:93591"} xref: Orphanet:655 {source="OMIM:615382"} @@ -282995,6 +291330,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0014159 name: autosomal recessive spinocerebellar ataxia 14 def: "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." [Orphanet:352403] +subset: gard_rare {source="GARD:17516"} subset: ordo_disease {source="Orphanet:352403"} synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403] synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern] @@ -283011,6 +291347,7 @@ synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386] synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080058 {source="MONDO:equivalentTo"} +xref: GARD:17516 {source="Orphanet:352403"} xref: ICD10CM:G11.1 {source="Orphanet:352403", source="Orphanet:352403/attributed", source="Orphanet:352403/ntbt"} xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="Orphanet:352403/e"} xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"} @@ -283026,6 +291363,7 @@ property_value: confidence "12.4375" xsd:double id: MONDO:0014160 name: TCR-alpha-beta-positive T-cell deficiency def: "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." [DOID:0111977, https://orcid.org/0000-0003-4062-6158, OMIM:615387] +subset: gard_rare {source="GARD:17646"} subset: ordo_disease {source="Orphanet:397959"} synonym: "IMD7" EXACT ABBREVIATION [DOID:0111977, OMIM:615387] synonym: "immunodeficiency 7" RELATED [OMIM:615387] @@ -283034,6 +291372,7 @@ synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387] synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959] synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387] xref: DOID:0111977 {source="MONDO:equivalentTo"} +xref: GARD:17646 {source="Orphanet:397959"} xref: ICD10CM:D84.8 {source="Orphanet:397959/attributed", source="Orphanet:397959/ntbt", source="Orphanet:397959"} xref: OMIM:615387 {source="Orphanet:397959/e", source="MONDO:equivalentTo", source="Orphanet:397959"} xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"} @@ -283045,8 +291384,10 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014161 name: vesicoureteral reflux 7 +subset: gard_rare {source="GARD:18424"} synonym: "vesicoureteral reflux 7" EXACT [MONDO:Lexical, OMIM:615390] synonym: "VUR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615390] +xref: GARD:18424 {source="OMIM:615390"} xref: OMIM:615390 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:615390"} xref: UMLS:C3809337 {source="MONDO:equivalentTo", source="OMIM:615390", source="MONDO:ncbi_mim2gene_medline"} @@ -283057,6 +291398,7 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0014162 name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency def: "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." [Orphanet:352563] +subset: gard_rare {source="GARD:12892"} subset: ordo_disease {source="Orphanet:352563"} synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563] synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395] @@ -283065,6 +291407,7 @@ synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORUL synonym: "COXPD16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615395, Orphanet:352563] synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111469 {source="MONDO:equivalentTo"} +xref: GARD:12892 {source="Orphanet:352563"} xref: ICD10CM:I42.2 {source="Orphanet:352563/attributed", source="Orphanet:352563/ntbt", source="Orphanet:352563"} xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="Orphanet:352563/e"} xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"} @@ -283080,12 +291423,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014163 name: left ventricular noncompaction 10 def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15956"} synonym: "cardiomyopathy, dilated, 1Mm" RELATED [OMIM:615396] synonym: "left ventricular noncompaction 10" EXACT [MONDO:Lexical, OMIM:615396] synonym: "left ventricular noncompaction caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2, OMIM:615396] synonym: "LVNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615396] synonym: "MYBPC3 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15956 {source="OMIM:615396"} xref: OMIM:615396 {source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:615396"} xref: Orphanet:54260 {source="OMIM:615396"} @@ -283101,11 +291446,13 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0014164 name: Meckel syndrome, type 11 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15957"} synonym: "meckel syndrome 11" EXACT [OMIM:615397, OMIM:genemap2] synonym: "Meckel syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 11" EXACT [MONDO:Lexical, OMIM:615397] synonym: "MKS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615397] synonym: "TMEM231 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15957 {source="OMIM:615397"} xref: OMIM:615397 {source="MONDO:equivalentTo"} xref: Orphanet:564 {source="OMIM:615397"} xref: UMLS:C3809352 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615397"} @@ -283120,6 +291467,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014165 name: multiple congenital anomalies-hypotonia-seizures syndrome 3 def: "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." [https://orcid.org/0000-0001-5208-3432, Orphanet:369837] +subset: gard_rare {source="GARD:17584"} subset: ordo_malformation_syndrome {source="Orphanet:369837"} synonym: "congenital disorder of glycosylation due to PIGT deficiency" EXACT [Orphanet:369837] synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [OMIM:615398] @@ -283135,6 +291483,7 @@ synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disabil synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PIGT-CDG" EXACT [Orphanet:369837] xref: DOID:0080140 {source="MONDO:equivalentTo"} +xref: GARD:17584 {source="Orphanet:369837"} xref: ICD10CM:Q87.8 {source="Orphanet:369837", source="Orphanet:369837/attributed", source="Orphanet:369837/ntbt"} xref: MESH:C566367 {source="MONDO:equivalentTo"} xref: OMIM:603530 {source="MONDO:equivalentObsolete"} @@ -283161,12 +291510,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014166 name: paroxysmal nocturnal hemoglobinuria 2 def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15958"} synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399] synonym: "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" EXACT [OMIM:615399, OMIM:genemap2] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern] synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399] synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PNH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615399] +xref: GARD:15958 {source="OMIM:615399"} xref: OMIM:615399 {source="MONDO:equivalentTo"} xref: Orphanet:447 {source="OMIM:615399"} xref: UMLS:C3809369 {source="OMIM:615399", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283181,6 +291532,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014167 name: epilepsy, familial adult myoclonic, 5 def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18086"} synonym: "CNTN2 epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [OMIM:615400] synonym: "epilepsy, familial adult myoclonic caused by mutation in CNTN2" EXACT [MONDO:design_pattern] @@ -283190,6 +291542,7 @@ synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1, OMIM:6 synonym: "epilepsy, myoclonic, familial adult, 5" EXACT [OMIM:615400, OMIM:genemap2] synonym: "FAME5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615400] xref: DOID:0111691 {source="MONDO:equivalentTo"} +xref: GARD:18086 {source="OMIM:615400"} xref: OMIM:615400 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:615400"} xref: UMLS:C3809374 {source="OMIM:615400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283204,6 +291557,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014168 name: severe combined immunodeficiency due to CORO1A deficiency +subset: gard_rare {source="GARD:17144"} subset: ordo_disease {source="Orphanet:228003"} synonym: "coronin-1A deficiency" EXACT [MONDO:0000579] synonym: "IMD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615401] @@ -283214,6 +291568,7 @@ synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003] synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT CLINGEN_PREFERRED [] synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003] xref: DOID:0060019 {source="MONDO:equivalentTo"} +xref: GARD:17144 {source="Orphanet:228003"} xref: ICD10CM:D81.2 {source="Orphanet:228003/attributed", source="Orphanet:228003/ntbt", source="Orphanet:228003"} xref: OMIM:615401 {source="Orphanet:228003/e", source="MONDO:equivalentTo", source="Orphanet:228003"} xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"} @@ -283227,11 +291582,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014169 name: dyschromatosis universalis hereditaria 3 def: "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15959"} synonym: "ABCB6 dyschromatosis universalis hereditaria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DUH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615402] synonym: "dyschromatosis universalis hereditaria 3" EXACT [MONDO:Lexical, OMIM:615402] synonym: "dyschromatosis universalis hereditaria caused by mutation in ABCB6" EXACT [MONDO:design_pattern] synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMIM:615402] +xref: GARD:15959 {source="OMIM:615402"} xref: OMIM:615402 {source="MONDO:equivalentTo"} xref: Orphanet:241 {source="OMIM:615402"} xref: UMLS:C3809394 {source="OMIM:615402", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283283,12 +291640,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014172 name: spermatogenic failure 12 def: "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15960"} synonym: "azoospermia caused by mutation in NANOS1" EXACT [MONDO:design_pattern] synonym: "NANOS1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spermatogenic failure 12" EXACT [MONDO:Lexical, OMIM:615413] synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2, OMIM:615413] synonym: "SPGF12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615413] xref: DOID:0070171 {source="MONDO:equivalentTo"} +xref: GARD:15960 {source="OMIM:615413"} xref: OMIM:615413 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615413"} xref: Orphanet:399808 {source="OMIM:615413"} @@ -283323,11 +291682,13 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0014174 name: renal-hepatic-pancreatic dysplasia 2 def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18432"} synonym: "NEK8 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "renal-hepatic-pancreatic dysplasia 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615415] synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1, OMIM:615415] synonym: "RHPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615415] +xref: GARD:18432 {source="OMIM:615415"} xref: OMIM:615415 {source="MONDO:equivalentTo"} xref: Orphanet:294415 {source="OMIM:615415"} xref: UMLS:C3809434 {source="OMIM:615415", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283341,6 +291702,7 @@ property_value: confidence "5.0" xsd:double id: MONDO:0014175 name: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive def: "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." [NCIT:C129977] +subset: gard_rare {source="GARD:15961"} synonym: "mitochondrial DNA depletion syndrome 12" EXACT CLINGEN_PREFERRED [] synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical, OMIM:615418] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [OMIM:615418, OMIM:genemap2] @@ -283351,6 +291713,7 @@ synonym: "MTDPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615418] synonym: "MTDPS12B" EXACT ABBREVIATION [OMIM:615418] xref: DOID:0080130 {source="MONDO:directSiblingOf"} xref: DOID:0080335 {source="MONDO:equivalentTo"} +xref: GARD:15961 {source="OMIM:615418"} xref: NCIT:C129977 {source="MONDO:equivalentTo"} xref: OMIM:615418 {source="DOID:0080130", source="MONDO:equivalentTo", source="DOID:0080335"} xref: Orphanet:1369 {source="OMIM:615418"} @@ -283366,6 +291729,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014176 name: hypotonia, infantile, with psychomotor retardation and characteristic facies def: "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." [Orphanet:371364] +subset: gard_rare {source="GARD:17609"} subset: ordo_disease {source="Orphanet:371364"} subset: prototype_pattern synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIM:615419] @@ -283373,6 +291737,7 @@ synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MO synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615419] synonym: "IHPRF syndrome" EXACT [Orphanet:371364] synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364] +xref: GARD:17609 {source="Orphanet:371364"} xref: ICD10CM:Q87.8 {source="Orphanet:371364", source="Orphanet:371364/attributed", source="Orphanet:371364/ntbt"} xref: OMIMPS:615419 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:371364 {source="MONDO:equivalentTo", source="OMIM:615419"} @@ -283401,6 +291766,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014178 name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15962"} synonym: "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IBMPFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615422] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" EXACT [MONDO:Lexical, OMIM:615422] @@ -283408,6 +291774,7 @@ synonym: "inclusion body myopathy with early-onset Paget disease with or without synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1" EXACT [MONDO:design_pattern] synonym: "multisystem Proteinopathy 2" RELATED [OMIM:615422] xref: DOID:0111384 {source="MONDO:equivalentTo"} +xref: GARD:15962 {source="OMIM:615422"} xref: OMIM:615422 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615422"} xref: UMLS:C3809468 {source="OMIM:615422", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283420,6 +291787,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014179 name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15963"} synonym: "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IBMPFD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615424] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" EXACT [MONDO:Lexical, OMIM:615424] @@ -283428,6 +291796,7 @@ synonym: "inclusion body myopathy with early-onset paget disease without frontot synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] synonym: "multisystem Proteinopathy 3" RELATED [OMIM:615424] xref: DOID:0111386 {source="MONDO:equivalentTo"} +xref: GARD:15963 {source="OMIM:615424"} xref: OMIM:615424 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615424"} xref: UMLS:C3809469 {source="OMIM:615424", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283440,6 +291809,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014180 name: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +subset: gard_rare {source="GARD:17690"} subset: ordo_disease {source="Orphanet:412181"} synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181] synonym: "EBS-AR BP230" EXACT [Orphanet:412181] @@ -283449,6 +291819,7 @@ synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181] synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425] synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425] +xref: GARD:17690 {source="Orphanet:412181"} xref: ICD10CM:Q81.0 {source="Orphanet:412181", source="Orphanet:412181/attributed", source="Orphanet:412181/ntbt"} xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="Orphanet:412181/e"} xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"} @@ -283463,12 +291834,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014181 name: amyotrophic lateral sclerosis type 20 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15964"} synonym: "ALS20" EXACT ABBREVIATION [DOID:0060211, MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis 20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 20" EXACT [MONDORULE:2, OMIM:615426] synonym: "HNRNPA1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060211 {source="MONDO:equivalentTo"} +xref: GARD:15964 {source="OMIM:615426"} xref: OMIM:615426 {source="DOID:0060211", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:615426"} xref: UMLS:C3715156 {source="OMIM:615426", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283482,6 +291855,7 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0014182 name: autosomal recessive nonsyndromic hearing loss 88 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22649"} synonym: "autosomal recessive deafness 88" NARROW [DOID:0110533] synonym: "autosomal recessive nonsyndromic deafness 88" NARROW [OMIM:615429] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" NARROW [MONDO:design_pattern] @@ -283491,6 +291865,7 @@ synonym: "deafness, autosomal recessive type 88" NARROW [MONDORULE:2, OMIM:61542 synonym: "DFNB88" NARROW ABBREVIATION [DOID:0110533, MONDO:Lexical, OMIM:615429] synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110533 {source="MONDO:equivalentTo"} +xref: GARD:22649 {source="OMIM:615429"} xref: ICD10CM:H90.3 {source="DOID:0110533"} xref: OMIM:615429 {source="DOID:0110533", source="MONDO:equivalentTo"} xref: UMLS:C2829267 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615429"} @@ -283504,8 +291879,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014183 name: myopia 23, autosomal recessive +subset: gard_rare {source="GARD:18198"} synonym: "myopia 23, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615431] synonym: "MYP23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615431] +xref: GARD:18198 {source="OMIM:615431"} xref: OMIM:615431 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="OMIM:615431"} xref: UMLS:C3809482 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615431"} @@ -283531,12 +291908,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014185 name: chromosome 3q13.31 deletion syndrome def: "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." [Orphanet:1621] +subset: gard_rare {source="GARD:16573"} subset: ordo_malformation_syndrome {source="Orphanet:1621"} synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418] synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433] synonym: "Del(3)(q13)" EXACT [Orphanet:1621] synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621] xref: DOID:0060418 {source="MONDO:equivalentTo"} +xref: GARD:16573 {source="Orphanet:1621"} xref: ICD10CM:Q93.5 {source="Orphanet:1621", source="Orphanet:1621/attributed", source="Orphanet:1621/ntbt"} xref: MESH:C536808 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} xref: OMIM:615433 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} @@ -283556,10 +291935,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014186 name: retinitis pigmentosa with or without situs inversus def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15965"} synonym: "ARL2BP retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa caused by mutation in ARL2BP" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa with or without situs inversus" EXACT CLINGEN_PREFERRED [OMIM:615434] xref: DOID:0110419 {source="MONDO:equivalentTo"} +xref: GARD:15965 {source="OMIM:615434"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"} xref: OMIM:615434 {source="DOID:0110419", source="MONDO:equivalentTo"} xref: UMLS:C3809503 {source="OMIM:615434", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} @@ -283572,11 +291953,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014187 name: aortic aneurysm, familial thoracic 8 def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15966"} synonym: "AAT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615436] synonym: "aortic aneurysm, familial thoracic 8" EXACT [MONDO:Lexical, OMIM:615436] synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1, OMIM:615436] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1" EXACT [MONDO:design_pattern] synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15966 {source="OMIM:615436"} xref: OMIM:615436 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:615436"} xref: UMLS:C3809513 {source="OMIM:615436", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283621,6 +292004,7 @@ id: MONDO:0014190 name: combined oxidative phosphorylation defect type 17 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:17589"} subset: ordo_disease {source="Orphanet:369913"} synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440] synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern] @@ -283628,6 +292012,7 @@ synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORUL synonym: "COXPD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615440, Orphanet:369913] synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111496 {source="MONDO:equivalentTo"} +xref: GARD:17589 {source="Orphanet:369913"} xref: ICD10CM:E88.8 {source="Orphanet:369913", source="Orphanet:369913/attributed", source="Orphanet:369913/ntbt"} xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="Orphanet:369913/e"} xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"} @@ -283643,6 +292028,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014191 name: catecholaminergic polymorphic ventricular tachycardia 5 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15967"} synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [OMIM:615441, OMIM:genemap2] synonym: "catecholaminergic polymorphic ventricular tachycardia 5" EXACT CLINGEN_PREFERRED [] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" EXACT [MONDO:design_pattern] @@ -283652,6 +292038,7 @@ synonym: "CVPT5" EXACT ABBREVIATION [DOID:0060679] synonym: "TRDN catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical, OMIM:615441] xref: DOID:0060679 {source="MONDO:equivalentTo"} +xref: GARD:15967 {source="OMIM:615441"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060679"} xref: OMIM:615441 {source="MONDO:equivalentTo", source="DOID:0060679"} xref: Orphanet:3286 {source="OMIM:615441"} @@ -283666,6 +292053,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014192 name: primary ciliary dyskinesia 22 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15968"} synonym: "CILD22" EXACT ABBREVIATION [DOID:0110597, MONDO:Lexical, OMIM:615444] synonym: "ciliary dyskinesia, primary, 22" RELATED [MONDO:Lexical, OMIM:615444] synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELATED [OMIM:615444] @@ -283675,6 +292063,7 @@ synonym: "primary ciliary dyskinesia caused by mutation in ZMYND10" EXACT [MONDO synonym: "primary ciliary dyskinesia type 22" EXACT [DOID:0110597, MONDORULE:2] synonym: "ZMYND10 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110597 {source="MONDO:equivalentTo"} +xref: GARD:15968 {source="OMIM:615444"} xref: ICD10CM:Q34.8 {source="DOID:0110597"} xref: OMIM:615444 {source="MONDO:equivalentTo", source="DOID:0110597"} xref: UMLS:C3809543 {source="OMIM:615444", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -283687,6 +292076,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014193 name: primary ciliary dyskinesia 23 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15969"} synonym: "ARMC4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD23" EXACT ABBREVIATION [DOID:0110609, MONDO:Lexical, OMIM:615451] synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical, OMIM:615451] @@ -283696,6 +292086,7 @@ synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in ARMC4" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 23" EXACT [DOID:0110609, MONDORULE:2] xref: DOID:0110609 {source="MONDO:equivalentTo"} +xref: GARD:15969 {source="OMIM:615451"} xref: ICD10CM:Q34.8 {source="DOID:0110609"} xref: OMIM:615451 {source="MONDO:equivalentTo", source="DOID:0110609"} xref: Orphanet:244 {source="OMIM:615451"} @@ -283709,12 +292100,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014194 name: mitochondrial complex III deficiency nuclear type 6 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15970"} synonym: "CYC1 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MC3DN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615453] synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [OMIM:615453] synonym: "mitochondrial complex III deficiency caused by mutation in CYC1" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical, OMIM:615453] xref: DOID:0080115 {source="MONDO:equivalentTo"} +xref: GARD:15970 {source="OMIM:615453"} xref: OMIM:615453 {source="MONDO:equivalentTo", source="DOID:0080115"} xref: Orphanet:1460 {source="OMIM:615453"} xref: UMLS:C3809553 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615453"} @@ -283729,12 +292122,14 @@ property_value: confidence "17.88808347074" xsd:double [Term] id: MONDO:0014195 name: microcornea-myopic chorioretinal atrophy +subset: gard_rare {source="GARD:17593"} subset: ordo_disease {source="Orphanet:369970"} synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical, OMIM:615458] synonym: "microcornea-myopic chorioretinal atrophy" EXACT CLINGEN_PREFERRED [] synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589] synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615458] synonym: "MMCAT syndrome" EXACT [Orphanet:369970] +xref: GARD:17593 {source="Orphanet:369970"} xref: ICD10CM:Q15.8 {source="Orphanet:369970/attributed", source="Orphanet:369970/ntbt", source="Orphanet:369970"} xref: OMIM:615458 {source="Orphanet:369970/e", source="MONDO:equivalentTo", source="Orphanet:369970"} xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"} @@ -283746,6 +292141,7 @@ property_value: confidence "2.846153846153847" xsd:double [Term] id: MONDO:0014196 name: Hartsfield-Bixler-Demyer syndrome +subset: gard_rare {source="GARD:2725"} subset: ordo_malformation_syndrome {source="Orphanet:2117"} synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical, OMIM:615465] synonym: "Hartsfield-Bixler-Demyer syndrome" EXACT CLINGEN_PREFERRED [] @@ -283753,6 +292149,7 @@ synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELAT synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117] synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117] synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615465] +xref: GARD:2725 {source="Orphanet:2117"} xref: ICD10CM:Q87.8 {source="Orphanet:2117", source="Orphanet:2117/attributed", source="Orphanet:2117/ntbt"} xref: MESH:C564484 {source="MONDO:equivalentTo"} xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="Orphanet:2117/e"} @@ -283775,12 +292172,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014197 name: combined immunodeficiency due to MALT1 deficiency def: "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." [Orphanet:397964] +subset: gard_rare {source="GARD:17647"} subset: ordo_disease {source="Orphanet:397964"} synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468] xref: DOID:0111988 {source="MONDO:equivalentTo"} +xref: GARD:17647 {source="Orphanet:397964"} xref: ICD10CM:D81.8 {source="Orphanet:397964", source="Orphanet:397964/attributed", source="Orphanet:397964/ntbt"} xref: OMIM:615468 {source="MONDO:equivalentTo", source="Orphanet:397964", source="Orphanet:397964/e"} xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"} @@ -283794,6 +292193,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014198 name: mitochondrial DNA depletion syndrome 13 def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13298"} subset: ordo_disease {source="Orphanet:369897"} synonym: "BXL4-related early-onset mitochondrial encephalopathy" RELATED [GARD:0013298] synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [GARD:0013298] @@ -283807,6 +292207,7 @@ synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with var synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897] synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615471] xref: DOID:0080131 {source="MONDO:equivalentTo"} +xref: GARD:13298 {source="Orphanet:369897"} xref: ICD10CM:E88.8 {source="Orphanet:369897/attributed", source="Orphanet:369897/ntbt", source="Orphanet:369897"} xref: NCIT:C172095 {source="MONDO:equivalentTo"} xref: OMIM:615471 {source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo", source="Orphanet:369897/e"} @@ -283824,6 +292225,7 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014199 name: developmental and epileptic encephalopathy, 17 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13378"} synonym: "DEE17" EXACT ABBREVIATION [OMIM:615473] synonym: "developmental and epileptic encephalopathy 17" EXACT [OMIM:615473, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern] @@ -283834,6 +292236,7 @@ synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2 synonym: "GNAO1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378] xref: DOID:0080450 {source="MONDO:equivalentTo"} +xref: GARD:13378 {source="OMIM:615473"} xref: OMIM:615473 {source="MONDO:equivalentTo"} xref: UMLS:C3809606 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615473"} is_a: MONDO:0100062 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy @@ -283846,6 +292249,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014200 name: aldosterone-producing adenoma with seizures and neurological abnormalities +subset: gard_rare {source="GARD:17591"} subset: ordo_disease {source="Orphanet:369929"} synonym: "aldosterone-secreting adenoma" RELATED [Orphanet:85142] synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929] @@ -283856,6 +292260,7 @@ synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orph synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615474] synonym: "primary aldosteronism due to Conn adenoma" RELATED [Orphanet:85142] synonym: "primary aldosteronism, seizures, and neurologic abnormalities" EXACT [MONDO:Lexical, OMIM:615474] +xref: GARD:17591 {source="Orphanet:369929"} xref: ICD10CM:E26.0 {source="Orphanet:369929/attributed", source="Orphanet:369929/ntbt", source="Orphanet:369929"} xref: OMIM:615474 {source="Orphanet:369929/e", source="MONDO:equivalentTo", source="Orphanet:369929"} xref: Orphanet:369929 {source="MONDO:equivalentTo", source="OMIM:615474"} @@ -283869,6 +292274,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014201 name: developmental and epileptic encephalopathy, 18 +subset: gard_rare {source="GARD:13676"} subset: ordo_disease {source="Orphanet:369894"} synonym: "DEE18" EXACT ABBREVIATION [OMIM:615476] synonym: "developmental and epileptic encephalopathy 18" EXACT [OMIM:615476, OMIM:genemap2] @@ -283877,6 +292283,7 @@ synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, 18" EXACT [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476] xref: DOID:0080413 {source="MONDO:equivalentTo"} +xref: GARD:13676 {source="OMIM:615476"} xref: ICD10CM:G40.4 {source="Orphanet:369894/attributed", source="Orphanet:369894/ntbt", source="Orphanet:369894"} xref: OMIM:615476 {source="Orphanet:369894/e", source="MONDO:equivalentTo", source="Orphanet:369894"} xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentObsolete"} @@ -283892,6 +292299,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014202 name: primary ciliary dyskinesia 24 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15971"} synonym: "CILD24" EXACT ABBREVIATION [DOID:0110628, MONDO:Lexical, OMIM:615481] synonym: "ciliary dyskinesia, primary, 24" RELATED [MONDO:Lexical, OMIM:615481] synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [OMIM:615481] @@ -283902,6 +292310,7 @@ synonym: "primary ciliary dyskinesia caused by mutation in RSPH1" EXACT [MONDO:d synonym: "primary ciliary dyskinesia type 24" EXACT [DOID:0110628, MONDORULE:2] synonym: "RSPH1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110628 {source="MONDO:equivalentTo"} +xref: GARD:15971 {source="OMIM:615481"} xref: ICD10CM:Q34.8 {source="DOID:0110628"} xref: OMIM:615481 {source="DOID:0110628", source="MONDO:equivalentTo"} xref: UMLS:C3809634 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615481"} @@ -283914,6 +292323,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014203 name: primary ciliary dyskinesia 25 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15972"} synonym: "CILD25" EXACT ABBREVIATION [DOID:0110615, MONDO:Lexical, OMIM:615482] synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical, OMIM:615482] synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [OMIM:615482] @@ -283923,6 +292333,7 @@ synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in DNAAF4" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 25" EXACT [DOID:0110615, MONDORULE:2] xref: DOID:0110615 {source="MONDO:equivalentTo"} +xref: GARD:15972 {source="OMIM:615482"} xref: ICD10CM:Q34.8 {source="DOID:0110615"} xref: OMIM:615482 {source="DOID:0110615", source="MONDO:equivalentTo"} xref: UMLS:C3809641 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615482"} @@ -283934,9 +292345,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014204 name: basal ganglia calcification, idiopathic, 5 +subset: gard_rare {source="GARD:15973"} synonym: "basal ganglia calcification, idiopathic, 5" EXACT [MONDO:Lexical, OMIM:615483] synonym: "basal ganglia calcification, idiopathic, type 5" EXACT [MONDORULE:1, OMIM:615483] synonym: "IBGC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615483] +xref: GARD:15973 {source="OMIM:615483"} xref: OMIM:615483 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="OMIM:615483"} xref: UMLS:C3809645 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615483"} @@ -283948,12 +292361,14 @@ property_value: confidence "0.5" xsd:double [Term] id: MONDO:0014205 name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +subset: gard_rare {source="GARD:13259"} subset: ordo_disease {source="Orphanet:352577"} synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485] synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577] synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615485] synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0080893 {source="MONDO:equivalentTo"} +xref: GARD:13259 {source="Orphanet:352577"} xref: ICD10CM:Q87.0 {source="Orphanet:352577", source="Orphanet:352577/attributed", source="Orphanet:352577/ntbt"} xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="Orphanet:352577/e"} xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"} @@ -283968,6 +292383,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014206 name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +subset: gard_rare {source="GARD:17746"} subset: ordo_disease {source="Orphanet:440427"} synonym: "hereditary pulmonary alveolar proteinosis with hepatic involvement" EXACT [Orphanet:440427] synonym: "ILLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615486] @@ -283977,6 +292393,7 @@ synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486 synonym: "PAP, Reunion island type" EXACT [Orphanet:440427] synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486] synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427] +xref: GARD:17746 {source="Orphanet:440427"} xref: ICD10CM:J84.0 {source="Orphanet:440427", source="Orphanet:440427/attributed", source="Orphanet:440427/ntbt"} xref: OMIM:615486 {source="Orphanet:440427/e", source="MONDO:equivalentTo", source="Orphanet:440427"} xref: Orphanet:370088 {source="MONDO:relatedTo", source="OMIM:615486"} @@ -284011,7 +292428,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014208 name: Charcot-Marie-Tooth disease type 2R def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0012451"} +subset: gard_rare {source="GARD:12451"} subset: ordo_disease {source="Orphanet:397968"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern] @@ -284024,6 +292441,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490] synonym: "CMT2R" EXACT ABBREVIATION [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968] synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110161 {source="MONDO:equivalentTo"} +xref: GARD:12451 {source="Orphanet:397968"} xref: ICD10CM:G60.0 {source="DOID:0110161", source="Orphanet:397968/attributed", source="Orphanet:397968/ntbt", source="Orphanet:397968"} xref: OMIM:615490 {source="Orphanet:397968/e", source="DOID:0110161", source="MONDO:equivalentTo", source="Orphanet:397968"} xref: Orphanet:397968 {source="DOID:0110161", source="MONDO:equivalentTo", source="OMIM:615490"} @@ -284041,12 +292459,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12451/charco id: MONDO:0014209 name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome def: "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." [Orphanet:352654] +subset: gard_rare {source="GARD:17523"} subset: ordo_disease {source="Orphanet:352654"} synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615491] synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491] synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491] synonym: "SPG79" RELATED ABBREVIATION [OMIM:615491] xref: DOID:0112344 {source="MONDO:equivalentTo"} +xref: GARD:17523 {source="Orphanet:352654"} xref: ICD10CM:G31.8 {source="Orphanet:352654", source="Orphanet:352654/attributed", source="Orphanet:352654/ntbt"} xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="Orphanet:352654/e"} xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"} @@ -284059,6 +292479,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014210 name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome +subset: gard_rare {source="GARD:17541"} subset: ordo_disease {source="Orphanet:356996"} synonym: "intellectual disability, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:615493] synonym: "intellectual disability, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:615493] @@ -284067,6 +292488,7 @@ synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MON synonym: "mental retardation, autosomal recessive, 37" EXACT [OMIM:615493, OMIM:genemap2] synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] xref: DOID:0081202 {source="MONDO:equivalentTo"} +xref: GARD:17541 {source="Orphanet:356996"} xref: ICD10CM:G93.8 {source="Orphanet:356996/attributed", source="Orphanet:356996/ntbt", source="Orphanet:356996"} xref: OMIM:615493 {source="Orphanet:356996", source="MONDO:equivalentTo", source="Orphanet:356996/e"} xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"} @@ -284082,6 +292504,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014211 name: primary ciliary dyskinesia 26 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15974"} synonym: "CFAP298 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD26" EXACT ABBREVIATION [DOID:0110627, MONDO:Lexical, OMIM:615500] synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical, OMIM:615500] @@ -284091,6 +292514,7 @@ synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [D synonym: "primary ciliary dyskinesia caused by mutation in CFAP298" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 26" EXACT [DOID:0110627, MONDORULE:2] xref: DOID:0110627 {source="MONDO:equivalentTo"} +xref: GARD:15974 {source="OMIM:615500"} xref: ICD10CM:Q34.8 {source="DOID:0110627"} xref: OMIM:615500 {source="MONDO:equivalentTo", source="DOID:0110627"} xref: UMLS:C3809684 {source="OMIM:615500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284103,6 +292527,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014212 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C def: "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." [DOID:0111166] +subset: gard_rare {source="GARD:17388"} subset: ordo_etiological_subtype {source="Orphanet:308400"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [DOID:0111166, Orphanet:308400] synonym: "MOCOD type C" EXACT [DOID:0111166, Orphanet:308400] @@ -284113,6 +292538,7 @@ synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166] synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501] synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501] xref: DOID:0111166 {source="MONDO:equivalentTo"} +xref: GARD:17388 {source="Orphanet:308400"} xref: ICD10CM:E72.1 {source="Orphanet:308400", source="Orphanet:308400/attributed", source="Orphanet:308400/ntbt"} xref: MESH:C565374 {source="MONDO:equivalentTo"} xref: OMIM:615501 {source="Orphanet:308400/e", source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400"} @@ -284129,6 +292555,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014213 name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +subset: gard_rare {source="GARD:17566"} subset: ordo_disease {source="Orphanet:363611"} synonym: "autosomal dominant intellectual disability 21" EXACT [DOID:0070051] synonym: "autosomal dominant mental retardation 21" EXACT DEPRECATED [DOID:0070051] @@ -284139,6 +292566,7 @@ synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:615502] synonym: "MRD21" EXACT ABBREVIATION [DOID:0070051, MONDO:Lexical, OMIM:615502] xref: DOID:0070051 {source="MONDO:equivalentTo"} +xref: GARD:17566 {source="Orphanet:363611"} xref: ICD10CM:Q87.8 {source="Orphanet:363611", source="Orphanet:363611/attributed", source="Orphanet:363611/ntbt"} xref: OMIM:615502 {source="MONDO:equivalentTo", source="Orphanet:363611", source="DOID:0070051", source="Orphanet:363611/e"} xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"} @@ -284156,12 +292584,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014214 name: short-rib thoracic dysplasia 8 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." [DOID:0110094, PMID:23910462] +subset: gard_rare {source="GARD:15975"} synonym: "short rib-polydactyly syndrome type VI" EXACT [DOID:0110094] synonym: "short rib-polydactyly syndrome, type 6" RELATED [OMIM:615503] synonym: "short-rib thoracic dysplasia 8 with or without polydactyly" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615503] synonym: "SRPS6" EXACT ABBREVIATION [DOID:0110094] synonym: "SRTD8" EXACT ABBREVIATION [DOID:0110094, MONDO:Lexical, OMIM:615503] xref: DOID:0110094 {source="MONDO:equivalentTo"} +xref: GARD:15975 {source="OMIM:615503"} xref: ICD10CM:Q77.2 {source="DOID:0110094"} xref: OMIM:615503 {source="MONDO:equivalentTo", source="DOID:0110094"} xref: Orphanet:93271 {source="OMIM:615503"} @@ -284175,6 +292605,7 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014215 name: primary ciliary dyskinesia 27 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15976"} synonym: "CCDC65 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD27" EXACT ABBREVIATION [DOID:0110611, MONDO:Lexical, OMIM:615504] synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical, OMIM:615504] @@ -284184,6 +292615,7 @@ synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [DOID:0110 synonym: "primary ciliary dyskinesia caused by mutation in CCDC65" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 27" EXACT [DOID:0110611, MONDORULE:2] xref: DOID:0110611 {source="MONDO:equivalentTo"} +xref: GARD:15976 {source="OMIM:615504"} xref: ICD10CM:Q34.8 {source="DOID:0110611"} xref: OMIM:615504 {source="DOID:0110611", source="MONDO:equivalentTo"} xref: UMLS:C3809701 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615504"} @@ -284196,6 +292628,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014216 name: primary ciliary dyskinesia 28 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15977"} synonym: "CILD28" EXACT ABBREVIATION [DOID:0110607, MONDO:Lexical, OMIM:615505] synonym: "ciliary dyskinesia, primary, 28" RELATED [MONDO:Lexical, OMIM:615505] synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELATED [OMIM:615505] @@ -284205,6 +292638,7 @@ synonym: "primary ciliary dyskinesia caused by mutation in SPAG1" EXACT [MONDO:d synonym: "primary ciliary dyskinesia type 28" EXACT [DOID:0110607, MONDORULE:2] synonym: "SPAG1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110607 {source="MONDO:equivalentTo"} +xref: GARD:15977 {source="OMIM:615505"} xref: ICD10CM:Q34.8 {source="DOID:0110607"} xref: OMIM:615505 {source="MONDO:equivalentTo", source="DOID:0110607"} xref: UMLS:C3809706 {source="MONDO:equivalentTo", source="OMIM:615505", source="MONDO:ncbi_mim2gene_medline"} @@ -284217,11 +292651,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014217 name: telangiectasia, hereditary hemorrhagic, type 5 def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15978"} synonym: "GDF2 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GDF2 related HHT-like syndrome" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "hereditary hemorrhagic telangiectasia caused by mutation in GDF2" EXACT [MONDO:design_pattern] synonym: "HHT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615506] synonym: "telangiectasia, hereditary hemorrhagic, type 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615506] +xref: GARD:15978 {source="OMIM:615506"} xref: OMIM:615506 {source="MONDO:equivalentTo"} xref: Orphanet:774 {source="OMIM:615506"} xref: UMLS:C3809710 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615506"} @@ -284236,6 +292672,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014218 name: severe dermatitis-multiple allergies-metabolic wasting syndrome +subset: gard_rare {source="GARD:17594"} subset: ordo_disease {source="Orphanet:369992"} synonym: "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" EXACT [Orphanet:369992] synonym: "EPKHE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615508] @@ -284244,6 +292681,7 @@ synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis synonym: "SAM syndrome" EXACT [Orphanet:369992] synonym: "Sam syndrome" RELATED [OMIM:615508] synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508] +xref: GARD:17594 {source="Orphanet:369992"} xref: ICD10CM:Q82.8 {source="Orphanet:369992/attributed", source="Orphanet:369992/ntbt", source="Orphanet:369992"} xref: OMIM:615508 {source="Orphanet:369992/e", source="MONDO:equivalentTo", source="Orphanet:369992"} xref: Orphanet:369992 {source="MONDO:equivalentTo", source="OMIM:615508"} @@ -284263,11 +292701,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014219 name: alacrima, achalasia, and intellectual disability syndrome +subset: gard_rare {source="GARD:12404"} synonym: "AAMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:615510] synonym: "alacrima, achalasia, and intellectual disability syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615510] synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:615510] synonym: "GMPPA-CDG" RELATED [GARD:0012404] xref: DOID:0112321 {source="MONDO:equivalentTo"} +xref: GARD:12404 {source="OMIM:615510"} xref: OMIM:615510 {source="MONDO:equivalentTo"} xref: Orphanet:869 {source="OMIM:615510"} xref: UMLS:C3809738 {source="OMIM:615510", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} @@ -284279,7 +292719,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014220 name: myopathy due to myoadenylate deaminase deficiency -subset: gard_rare +subset: gard_rare {source="GARD:15248"} subset: prototype_pattern synonym: "adenosine monophosphate deaminase 1 deficiency" RELATED [GARD:0000547] synonym: "adenosine monophosphate deaminase deficiency" RELATED [GARD:0000547] @@ -284291,6 +292731,7 @@ synonym: "MMDD" RELATED ABBREVIATION [GARD:0000547, MONDO:Lexical, OMIM:615511] synonym: "myoadenylate deaminase deficiency" RELATED [GARD:0000547] synonym: "myoadenylate deaminase deficiency, myopathy due to" RELATED [OMIM:615511] synonym: "myopathy due to myoadenylate deaminase deficiency" EXACT [GARD:0000547, MONDO:Lexical, OMIM:615511] +xref: GARD:15248 {source="OMIM:615511"} xref: NCIT:C157504 {source="MONDO:equivalentTo"} xref: OMIM:615511 {source="MONDO:equivalentTo", source="GARD:0000547"} xref: Orphanet:45 {source="OMIM:615511", source="GARD:0000547"} @@ -284306,7 +292747,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/547/adenosin id: MONDO:0014221 name: triosephosphate isomerase deficiency def: "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." [Orphanet:868] -subset: gard_rare {source="GARD:0005287"} +subset: gard_rare {source="GARD:5287"} subset: ordo_disease {source="Orphanet:868"} synonym: "hemolytic anaemia due to triosephosphate isomerase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [OMIM:615512, OMIM:genemap2] @@ -284315,6 +292756,7 @@ synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615512] synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884] synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512] xref: DOID:0050884 {source="MONDO:equivalentTo"} +xref: GARD:5287 {source="Orphanet:868"} xref: ICD10CM:D55.2 {source="Orphanet:868", source="Orphanet:868/attributed", source="Orphanet:868/ntbt"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566029 {source="MONDO:equivalentTo"} @@ -284338,6 +292780,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5287/triosep [Term] id: MONDO:0014222 name: immunodeficiency 14 +subset: gard_rare {source="GARD:15979"} synonym: "Activated PI3K-Delta syndrome" RELATED [OMIM:615513] synonym: "IMD14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615513] synonym: "immunodeficiency 14" EXACT [MONDO:Lexical, OMIM:615513] @@ -284345,6 +292788,7 @@ synonym: "immunodeficiency 14A, autosomal dominant" EXACT [OMIM:615513, OMIM:gen synonym: "immunodeficiency type 14" EXACT [MONDORULE:2, OMIM:615513] synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" RELATED [OMIM:615513] xref: DOID:0111936 {source="MONDO:equivalentTo"} +xref: GARD:15979 {source="OMIM:615513"} xref: OMIM:615513 {source="MONDO:equivalentTo"} xref: Orphanet:397596 {source="OMIM:615513"} xref: UMLS:C3714976 {source="OMIM:615513", source="MONDO:ncbi_mim2gene_medline"} @@ -284357,12 +292801,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014223 name: amyotrophic lateral sclerosis type 19 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15980"} synonym: "ALS19" EXACT ABBREVIATION [DOID:0060210, MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis 19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis caused by mutation in ERBB4" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 19" EXACT CLINGEN_PREFERRED [MONDORULE:2, OMIM:615515] synonym: "ERBB4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060210 {source="MONDO:equivalentTo"} +xref: GARD:15980 {source="OMIM:615515"} xref: OMIM:615515 {source="DOID:0060210", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:615515"} xref: UMLS:C3715155 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615515"} @@ -284376,6 +292822,7 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0014224 name: developmental delay with autism spectrum disorder and gait instability def: "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." [Orphanet:329195] +subset: gard_rare {source="GARD:17496"} subset: ordo_disease {source="Orphanet:329195"} synonym: "developmental delay with ASD and gait instability" EXACT [Orphanet:329195] synonym: "intellectual developmental disorder, autosomal recessive 38" EXACT [OMIM:615516, OMIM:genemap2] @@ -284385,6 +292832,7 @@ synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:615516] synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] xref: DOID:0081203 {source="MONDO:equivalentTo"} +xref: GARD:17496 {source="Orphanet:329195"} xref: OMIM:615516 {source="Orphanet:329195", source="MONDO:equivalentTo", source="Orphanet:329195/e"} xref: Orphanet:329195 {source="MONDO:equivalentTo", source="OMIM:615516"} xref: UMLS:C3809753 {source="MONDO:equivalentTo", source="OMIM:615516", source="MONDO:ncbi_mim2gene_medline"} @@ -284402,6 +292850,7 @@ id: MONDO:0014225 name: hemochromatosis type 5 def: "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor notes: ORDO treats this as two diseases +subset: gard_rare {source="GARD:13472"} subset: merged_class subset: ordo_disease {source="Orphanet:247790", source="Orphanet:447792"} synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -284412,6 +292861,7 @@ synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:de synonym: "HFE5" EXACT ABBREVIATION [DOID:0111031, MONDO:Lexical, OMIM:615517] synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517] xref: DOID:0111031 {source="MONDO:equivalentTo"} +xref: GARD:13472 {source="Orphanet:247790"} xref: ICD10CM:E83.1 {source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792", source="Orphanet:247790/attributed", source="Orphanet:247790/ntbt", source="Orphanet:447792/attributed", source="Orphanet:447792/ntbt"} xref: MESH:C565020 {source="MONDO:equivalentTo"} xref: OMIM:615517 {source="Orphanet:247790/e", source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790"} @@ -284431,6 +292881,7 @@ property_value: confidence "13.769230769230768" xsd:double id: MONDO:0014226 name: idiopathic CD4 lymphocytopenia def: "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." [https://orcid.org/0000-0001-5208-3432, Orphanet:228000] +subset: gard_rare {source="GARD:12375"} subset: ordo_disease {source="Orphanet:228000"} synonym: "ICL" RELATED ABBREVIATION [GARD:0012375] synonym: "idiopathic Cd4 lymphopenia" RELATED [OMIM:615518] @@ -284439,6 +292890,7 @@ synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518] xref: DOID:0111987 {source="MONDO:equivalentTo"} +xref: GARD:12375 {source="Orphanet:228000"} xref: ICD10CM:D72.8 {source="Orphanet:228000/attributed", source="Orphanet:228000/ntbt", source="Orphanet:228000"} xref: OMIM:615518 {source="Orphanet:228000/e", source="MONDO:equivalentTo", source="Orphanet:228000"} xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"} @@ -284453,6 +292905,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014227 name: hypopigmentation-punctate palmoplantar keratoderma syndrome +subset: gard_rare {source="GARD:12384"} subset: ordo_disease {source="Orphanet:324561"} synonym: "COLE disease" RELATED [MONDO:Lexical, OMIM:615522] synonym: "Cole disease" EXACT [Orphanet:324561] @@ -284462,6 +292915,7 @@ synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma" EXACT synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [OMIM:615522] synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561] synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384] +xref: GARD:12384 {source="Orphanet:324561"} xref: ICD10CM:Q82.8 {source="Orphanet:324561/attributed", source="Orphanet:324561/ntbt", source="Orphanet:324561"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615522 {source="Orphanet:324561/e", source="MONDO:equivalentTo", source="Orphanet:324561"} @@ -284477,11 +292931,13 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014228 name: corneal dystrophy, Fuchs endothelial, 8 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18223"} synonym: "AGBL1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "corneal dystrophy, Fuchs endothelial, 8" EXACT [MONDO:Lexical, OMIM:615523] synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1, OMIM:615523] synonym: "FECD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615523] synonym: "Fuchs' endothelial dystrophy caused by mutation in AGBL1" EXACT [MONDO:design_pattern] +xref: GARD:18223 {source="OMIM:615523"} xref: OMIM:615523 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:615523"} xref: UMLS:C3809798 {source="OMIM:615523", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284495,7 +292951,7 @@ property_value: confidence "4.749999999999999" xsd:double id: MONDO:0014229 name: microphthalmia, syndromic 12 def: "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." [https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12] -subset: gard_rare {source="GARD:0013235"} +subset: gard_rare {source="GARD:13235"} synonym: "MCOPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615524] synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects" RELATED [OMIM:615524] synonym: "microphthalmia, syndromic 12" EXACT [MONDO:Lexical, OMIM:615524] @@ -284504,6 +292960,7 @@ synonym: "RARB syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patt synonym: "syndromic microphthalmia caused by mutation in RARB" EXACT [MONDO:design_pattern] synonym: "syndromic microphthalmia-12" RELATED [GARD:0013235] xref: DOID:0111800 {source="MONDO:equivalentTo"} +xref: GARD:13235 {source="OMIM:615524"} xref: OMIM:615524 {source="MONDO:equivalentTo"} xref: Orphanet:2470 {source="OMIM:615524"} xref: UMLS:C3809803 {source="OMIM:615524", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284518,12 +292975,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13235/syndro id: MONDO:0014230 name: candidiasis, familial, 8 def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15981"} synonym: "CANDF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615527] synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:615527] synonym: "candidiasis, familial, 8" EXACT [MONDO:Lexical, OMIM:615527] synonym: "candidiasis, familial, type 8" EXACT [MONDORULE:1, OMIM:615527] synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2" EXACT [] synonym: "TRAF3IP2 chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:15981 {source="OMIM:615527"} xref: OMIM:615527 {source="MONDO:equivalentTo"} xref: UMLS:C3714992 {source="MONDO:equivalentTo", source="OMIM:615527", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015279 {source="OMIM:615527"} ! chronic mucocutaneous candidiasis @@ -284536,6 +292995,7 @@ property_value: confidence "2.323076923076922" xsd:double id: MONDO:0014231 name: juvenile onset Parkinson disease 19A def: "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18461"} synonym: "DNAJC6 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "juvenile onset Parkinson disease 19A" EXACT CLINGEN_PREFERRED [] synonym: "juvenile onset Parkinson disease type 19A" EXACT [DOID:0060891, MONDORULE:4] @@ -284548,6 +293008,7 @@ synonym: "Parkinson disease 19A, juvenile-onset" RELATED [OMIM:615528] synonym: "Parkinson disease 19B, early-onset" RELATED [OMIM:615528] synonym: "Parkinson disease caused by mutation in DNAJC6" EXACT [MONDO:design_pattern] xref: DOID:0060891 {source="MONDO:equivalentTo"} +xref: GARD:18461 {source="OMIM:615528"} xref: ICD10CM:G20 {source="DOID:0060891"} xref: OMIM:615528 {source="DOID:0060891", source="MONDO:equivalentTo"} xref: Orphanet:391411 {source="DOID:0060891", source="OMIM:615528"} @@ -284564,12 +293025,14 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0014232 name: craniosynostosis 5, susceptibility to def: "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18046"} subset: predisposition synonym: "ALX4 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:615529] synonym: "craniosynostosis caused by mutation in ALX4" EXACT [MONDO:design_pattern] synonym: "CRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615529] synonym: "susceptibility to craniosynostosis 5" RELATED [OMIM:615529] +xref: GARD:18046 {source="OMIM:615529"} xref: OMIM:615529 {source="MONDO:equivalentTo"} xref: Orphanet:35093 {source="OMIM:615529"} xref: UMLS:C3809819 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615529"} @@ -284583,6 +293046,7 @@ property_value: confidence "3.2857142857142865" xsd:double id: MONDO:0014233 name: early-onset Parkinson disease 20 def: "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18462"} synonym: "early-onset Parkinson disease type 20" EXACT [DOID:0060898, MONDORULE:2] synonym: "early-onset Parkinson's disease 20" RELATED [DOID:0060898] synonym: "PARK20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615530] @@ -284590,6 +293054,7 @@ synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical, OMIM:615530 synonym: "Parkinson disease caused by mutation in SYNJ1" EXACT [MONDO:design_pattern] synonym: "SYNJ1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060898 {source="MONDO:equivalentTo"} +xref: GARD:18462 {source="OMIM:615530"} xref: OMIM:615530 {source="MONDO:equivalentTo", source="DOID:0060898"} xref: Orphanet:391411 {source="MONDO:relatedTo", source="OMIM:615530"} xref: UMLS:C3809824 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615530"} @@ -284604,6 +293069,7 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0014234 name: reticulate acropigmentation of Kitamura def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [DOID:0060258, PMID:22808308] +subset: gard_rare {source="GARD:17079"} subset: ordo_disease {source="Orphanet:178307"} synonym: "acropigmentatio reticularis" RELATED [OMIM:615537] synonym: "Kitamura reticulate acropigmentation" RELATED [OMIM:615537] @@ -284612,6 +293078,7 @@ synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258, Orphanet:178307] synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537] synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537] xref: DOID:0060258 {source="MONDO:equivalentTo"} +xref: GARD:17079 {source="Orphanet:178307"} xref: ICD10CM:L81.8 {source="Orphanet:178307/attributed", source="Orphanet:178307/ntbt", source="Orphanet:178307"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562924 {source="DOID:0060258", source="MONDO:directSiblingOf"} @@ -284643,6 +293110,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014236 name: Ehlers-Danlos syndrome, musculocontractural type 2 def: "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15982"} synonym: "DSE Ehlers-Danlos syndrome, musculocontractural type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EDSMC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615539] synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615539] @@ -284650,6 +293118,7 @@ synonym: "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615539] xref: DOID:0080735 {source="MONDO:equivalentTo"} xref: DOID:0080737 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:15982 {source="OMIM:615539"} xref: OMIM:615539 {source="MONDO:equivalentTo"} xref: Orphanet:2953 {source="OMIM:615539"} xref: UMLS:C3809845 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615539"} @@ -284665,6 +293134,7 @@ id: MONDO:0014237 name: autosomal recessive nonsyndromic hearing loss 76 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:22650"} synonym: "autosomal recessive deafness 76" NARROW [DOID:0110524] synonym: "autosomal recessive nonsyndromic deafness 76" NARROW CLINGEN_PREFERRED [OMIM:615540] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" NARROW [MONDO:design_pattern] @@ -284674,6 +293144,7 @@ synonym: "deafness, autosomal recessive type 76" NARROW [MONDORULE:2, OMIM:61554 synonym: "DFNB76" NARROW ABBREVIATION [DOID:0110524, MONDO:Lexical, OMIM:615540] synonym: "SYNE4 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110524 {source="MONDO:equivalentTo"} +xref: GARD:22650 {source="OMIM:615540"} xref: ICD10CM:H90.3 {source="DOID:0110524"} xref: OMIM:615540 {source="DOID:0110524", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:615540"} @@ -284688,6 +293159,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014238 name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17611"} subset: ordo_malformation_syndrome {source="Orphanet:391307"} synonym: "intellectual disability, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:615541] synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:615541] @@ -284695,6 +293167,7 @@ synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:615541] synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] xref: DOID:0081204 {source="MONDO:equivalentTo"} +xref: GARD:17611 {source="Orphanet:391307"} xref: ICD10CM:Q87.8 {source="Orphanet:391307", source="Orphanet:391307/attributed", source="Orphanet:391307/ntbt"} xref: OMIM:615541 {source="Orphanet:391307", source="MONDO:equivalentTo", source="Orphanet:391307/e"} xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"} @@ -284709,8 +293182,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014239 name: testicular anomalies with or without congenital heart disease +subset: gard_rare {source="GARD:18360"} synonym: "TACHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615542] synonym: "testicular anomalies with or without congenital heart disease" EXACT [MONDO:Lexical, OMIM:615542] +xref: GARD:18360 {source="OMIM:615542"} xref: OMIM:615542 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="OMIM:615542"} xref: UMLS:C3809858 {source="OMIM:615542", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284722,11 +293197,13 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0014240 name: periventricular nodular heterotopia 6 def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15983"} synonym: "ERMARD periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "periventricular nodular heterotopia 6" EXACT [MONDO:Lexical, OMIM:615544] synonym: "periventricular nodular heterotopia caused by mutation in ERMARD" EXACT [MONDO:design_pattern] synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1, OMIM:615544] synonym: "PVNH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615544] +xref: GARD:15983 {source="OMIM:615544"} xref: OMIM:615544 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:615544"} xref: Orphanet:98892 {source="OMIM:615544"} @@ -284767,6 +293244,7 @@ property_value: confidence "0.1805555555555558" xsd:double id: MONDO:0014242 name: van Maldergem syndrome 2 def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15984"} synonym: "FAT4 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "VAN Maldergem syndrome 2" RELATED [OMIM:615546] synonym: "van Maldergem syndrome 2" EXACT [MONDO:Lexical, OMIM:615546] @@ -284774,6 +293252,7 @@ synonym: "van Maldergem syndrome caused by mutation in FAT4" EXACT [MONDO:design synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1, OMIM:615546] synonym: "VMLDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615546] xref: DOID:0080586 {source="MONDO:equivalentTo"} +xref: GARD:15984 {source="OMIM:615546"} xref: OMIM:615546 {source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="OMIM:615546"} xref: UMLS:C3809875 {source="OMIM:615546", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284786,6 +293265,7 @@ property_value: confidence "0.09890109890109877" xsd:double [Term] id: MONDO:0014243 name: Schaaf-Yang syndrome +subset: gard_rare {source="GARD:13316"} subset: ordo_etiological_subtype {source="Orphanet:398069"} synonym: "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" EXACT [MONDO:0008820, OMIM:208080] synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT DEPRECATED [OMIM:208080] @@ -284799,6 +293279,7 @@ synonym: "PWS due to a point mutation" RELATED DEPRECATED [Orphanet:398069] synonym: "Schaaf-Yang syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615547, Orphanet:398069, PMID:24076603] synonym: "SHFYNG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615547] xref: DOID:0111715 {source="MONDO:equivalentTo"} +xref: GARD:13316 {source="Orphanet:398069"} xref: ICD10CM:Q87.1 {source="Orphanet:398069", source="Orphanet:398069/attributed", source="Orphanet:398069/ntbt"} xref: MESH:C535385 {source="MONDO:equivalentTo"} xref: OMIM:208080 {source="MONDO:equivalentObsolete"} @@ -284818,7 +293299,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014244 name: hereditary sensory and autonomic neuropathy type 7 def: "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" [https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7] -subset: gard_rare {source="GARD:0012732"} +subset: gard_rare {source="GARD:12732"} subset: ordo_disease {source="Orphanet:391397"} synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern] synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] @@ -284834,6 +293315,7 @@ synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:61 synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548] synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070149 {source="MONDO:equivalentTo"} +xref: GARD:12732 {source="Orphanet:391397"} xref: ICD10CM:G60.8 {source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/attributed", source="Orphanet:391397/ntbt"} xref: NCIT:C125388 {source="MONDO:equivalentTo"} xref: OMIM:615548 {source="MONDO:equivalentTo", source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/e"} @@ -284848,6 +293330,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12732/heredi id: MONDO:0014245 name: Diamond-Blackfan anemia 12 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15985"} synonym: "DBA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615550] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL15" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 12" EXACT OMO:0003005 [] @@ -284857,6 +293340,7 @@ synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550] synonym: "RPL15 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111882 {source="MONDO:equivalentTo"} +xref: GARD:15985 {source="OMIM:615550"} xref: OMIM:615550 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:615550"} xref: UMLS:C3809888 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615550"} @@ -284869,12 +293353,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014246 name: episodic pain syndrome, familial, 2 def: "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18440"} synonym: "episodic pain syndrome, familial, 2" EXACT [MONDO:Lexical, OMIM:615551] synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615551] synonym: "familial episodic pain syndrome caused by mutation in SCN10A" EXACT [MONDO:design_pattern] synonym: "FEPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615551] synonym: "SCN10A familial episodic pain syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111730 {source="MONDO:equivalentTo"} +xref: GARD:18440 {source="OMIM:615551"} xref: OMIM:615551 {source="MONDO:equivalentTo"} xref: Orphanet:306577 {source="OMIM:615551"} xref: UMLS:C3809893 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615551"} @@ -284888,11 +293374,13 @@ property_value: confidence "2.5" xsd:double id: MONDO:0014247 name: familial episodic pain syndrome with predominantly lower limb involvement def: "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." [NCIT:C125390] +subset: gard_rare {source="GARD:17619"} subset: ordo_clinical_subtype {source="Orphanet:391392"} synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552] synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552] synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615552] xref: DOID:0111731 {source="MONDO:equivalentTo"} +xref: GARD:17619 {source="Orphanet:391392"} xref: ICD10CM:M79.6 {source="Orphanet:391392", source="Orphanet:391392/attributed", source="Orphanet:391392/ntbt"} xref: NCIT:C125390 {source="MONDO:equivalentTo"} xref: OMIM:615552 {source="Orphanet:391392", source="MONDO:equivalentTo", source="Orphanet:391392/e"} @@ -284908,12 +293396,14 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014248 name: autism spectrum disorder - epilepsy - arthrogryposis syndrome def: "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." [Orphanet:370943] +subset: gard_rare {source="GARD:17604"} subset: ordo_disease {source="Orphanet:370943"} synonym: "AMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT [OMIM:615553, OMIM:genemap2] synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical, OMIM:615553] synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] synonym: "SLC35A3-CDG" EXACT [Orphanet:370943] +xref: GARD:17604 {source="Orphanet:370943"} xref: ICD10CM:Q87.8 {source="Orphanet:370943/attributed", source="Orphanet:370943/ntbt", source="Orphanet:370943"} xref: OMIM:615553 {source="Orphanet:370943/e", source="MONDO:equivalentTo", source="Orphanet:370943"} xref: Orphanet:370943 {source="OMIM:615553", source="MONDO:equivalentTo"} @@ -284948,12 +293438,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014250 name: familial hyperprolactinemia def: "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." [Orphanet:397685] +subset: gard_rare {source="GARD:17634"} subset: ordo_disease {source="Orphanet:397685"} synonym: "familial hyperprolactinemia" EXACT [Orphanet:397685] synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:397685] synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary] synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615555] synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555] +xref: GARD:17634 {source="Orphanet:397685"} xref: ICD10CM:E22.1 {source="Orphanet:397685/attributed", source="Orphanet:397685/ntbt", source="MONDO:relatedTo", source="Orphanet:397685"} xref: OMIM:615555 {source="Orphanet:397685", source="MONDO:equivalentTo", source="Orphanet:397685/e"} xref: Orphanet:397685 {source="OMIM:615555", source="MONDO:equivalentTo"} @@ -284968,10 +293460,12 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014251 name: melioidosis, susceptibility to +subset: gard_rare {source="GARD:15986"} subset: predisposition synonym: "melioidosis, resistance to" RELATED [OMIM:615557] synonym: "melioidosis, susceptibility to" EXACT [OMIM:615557] synonym: "susceptibility to melioidosis" RELATED [OMIM:615557] +xref: GARD:15986 {source="OMIM:615557"} xref: OMIM:615557 {source="MONDO:equivalentTo"} xref: Orphanet:31202 {source="OMIM:615557"} xref: UMLS:C3715193 {source="OMIM:615557", source="MONDO:notFoundInDiseaseSubset"} @@ -284986,6 +293480,7 @@ property_value: confidence "34.333333333333464" xsd:double id: MONDO:0014252 name: familial hypobetalipoproteinemia 1 def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2876"} synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558] synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial hypobetalipoproteinemia 1" EXACT CLINGEN_PREFERRED [] @@ -284999,6 +293494,7 @@ synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615 synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1, OMIM:615558] synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [OMIM:615558] xref: DOID:0111062 {source="MONDO:equivalentTo"} +xref: GARD:2876 {source="OMIM:615558"} xref: MESH:C566267 {source="MONDO:equivalentTo"} xref: OMIM:615558 {source="MONDO:equivalentTo", source="DOID:0111062"} xref: Orphanet:426 {source="OMIM:615558"} @@ -285042,12 +293538,14 @@ consider: MONDO:8000024 id: MONDO:0014254 name: otofaciocervical syndrome 2 def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:16503"} synonym: "OFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615560] synonym: "OTFCS2" RELATED ABBREVIATION [OMIM:615560] synonym: "otofaciocervical syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615560] synonym: "otofaciocervical syndrome caused by mutation in PAX1" EXACT [MONDO:design_pattern] synonym: "otofaciocervical syndrome type 2" EXACT [MONDORULE:1, OMIM:615560] synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16503 {source="OMIM:615560"} xref: OMIM:615560 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:615560"} xref: UMLS:C3714942 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615560"} @@ -285072,12 +293570,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014256 name: retinitis pigmentosa 67 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15988"} synonym: "NEK2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 67" EXACT [MONDO:Lexical, OMIM:615565] synonym: "retinitis pigmentosa caused by mutation in NEK2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 67" EXACT [DOID:0110359, MONDORULE:2, OMIM:615565] synonym: "RP67" EXACT ABBREVIATION [DOID:0110359, MONDO:Lexical, OMIM:615565] xref: DOID:0110359 {source="MONDO:equivalentTo"} +xref: GARD:15988 {source="OMIM:615565"} xref: ICD10CM:H35.5 {source="DOID:0110359", source="MONDO:relatedTo"} xref: OMIM:615565 {source="DOID:0110359", source="MONDO:equivalentTo"} xref: UMLS:C3809954 {source="OMIM:615565", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -285090,11 +293590,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014257 name: nephrotic syndrome, type 9 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15989"} synonym: "COQ8B nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nephrotic syndrome caused by mutation in COQ8B" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 9" EXACT [MONDO:Lexical, OMIM:615573] synonym: "NPHS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615573] xref: DOID:0080391 {source="MONDO:equivalentTo"} +xref: GARD:15989 {source="OMIM:615573"} xref: OMIM:615573 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:615573"} xref: UMLS:C3809965 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615573"} @@ -285109,11 +293611,13 @@ property_value: confidence "0.5000000000000002" xsd:double [Term] id: MONDO:0014258 name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +subset: gard_rare {source="GARD:17617"} subset: ordo_disease {source="Orphanet:391376"} synonym: "Asns deficiency" RELATED [OMIM:615574] synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615574] synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376] synonym: "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:17617 {source="Orphanet:391376"} xref: ICD10CM:E72.8 {source="Orphanet:391376", source="Orphanet:391376/attributed", source="Orphanet:391376/ntbt"} xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="Orphanet:391376/e"} xref: Orphanet:391376 {source="MONDO:equivalentTo", source="OMIM:615574"} @@ -285132,6 +293636,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014259 name: neuronopathy, distal hereditary motor, type 2D def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18265"} synonym: "FBXO38 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HMN 2D" RELATED [OMIM:615575] synonym: "HMN2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615575] @@ -285140,6 +293645,7 @@ synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexica synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [OMIM:615575] synonym: "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" RELATED [OMIM:615575] xref: DOID:0111210 {source="MONDO:equivalentTo"} +xref: GARD:18265 {source="OMIM:615575"} xref: OMIM:615575 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="OMIM:615575"} xref: UMLS:C3711384 {source="OMIM:615575", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -285154,6 +293660,7 @@ property_value: confidence "0.519607843137255" xsd:double id: MONDO:0014260 name: immunodeficiency, common variable, 10 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15990"} synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern] synonym: "CVID10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615577] synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577] @@ -285162,6 +293669,7 @@ synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:6 synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577] synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081152 {source="MONDO:equivalentTo"} +xref: GARD:15990 {source="OMIM:615577"} xref: OMIM:615577 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:615577"} xref: Orphanet:293978 {source="OMIM:615577"} @@ -285175,6 +293683,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014261 name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:17615"} subset: ordo_disease {source="Orphanet:391348"} synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578] synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern] @@ -285182,6 +293691,7 @@ synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORUL synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615578] synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111484 {source="MONDO:equivalentTo"} +xref: GARD:17615 {source="Orphanet:391348"} xref: ICD10CM:E88.8 {source="Orphanet:391348/attributed", source="Orphanet:391348/ntbt", source="Orphanet:391348"} xref: OMIM:615578 {source="Orphanet:391348/e", source="MONDO:equivalentTo", source="Orphanet:391348"} xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"} @@ -285197,13 +293707,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014262 name: Rienhoff syndrome def: "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." [EFO:1000012] -subset: gard_rare {source="GARD:0012356"} +subset: gard_rare {source="GARD:12356"} synonym: "LDS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615582] synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical, OMIM:615582] synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1, OMIM:615582] synonym: "Rienhoff syndrome" EXACT CLINGEN_PREFERRED [OMIM:615582] xref: DOID:0070236 {source="MONDO:equivalentTo"} xref: EFO:1000012 {source="MONDO:equivalentTo"} +xref: GARD:12356 {source="OMIM:615582"} xref: OMIM:615582 {source="EFO:1000012", source="MONDO:equivalentTo"} xref: UMLS:C3810012 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615582"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease @@ -285219,10 +293730,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12356/rienho [Term] id: MONDO:0014263 name: 8q24.3 microdeletion syndrome +subset: gard_rare {source="GARD:12814"} subset: ordo_malformation_syndrome synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [OMIM:615583] synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583] synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615583] +xref: GARD:12814 {source="Orphanet:508488"} xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"} xref: Orphanet:508488 {source="MONDO:equivalentTo"} xref: UMLS:C3810023 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615583"} @@ -285298,6 +293811,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014267 name: severe combined immunodeficiency due to IKK2 deficiency def: "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." [Orphanet:397787] +subset: gard_rare {source="GARD:18468", source="GARD:17641"} subset: ordo_disease {source="Orphanet:397787"} synonym: "IMD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615592] synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592] @@ -285305,6 +293819,8 @@ synonym: "immunodeficiency 15B" EXACT [OMIM:615592, OMIM:genemap2] synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592] synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787] xref: DOID:0111959 {source="MONDO:equivalentTo"} +xref: GARD:17641 {source="Orphanet:397787"} +xref: GARD:18468 {source="OMIM:615592"} xref: ICD10CM:D81.2 {source="Orphanet:397787", source="Orphanet:397787/attributed", source="Orphanet:397787/ntbt"} xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="Orphanet:397787/e"} xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"} @@ -285318,6 +293834,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014268 name: combined immunodeficiency due to OX40 deficiency def: "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." [Orphanet:431149] +subset: gard_rare {source="GARD:17710"} subset: ordo_disease {source="Orphanet:431149"} synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [Orphanet:431149] synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [Orphanet:431149] @@ -285327,6 +293844,7 @@ synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593] synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593] synonym: "OX40 deficiency" RELATED [OMIM:615593] xref: DOID:0111935 {source="MONDO:equivalentTo"} +xref: GARD:17710 {source="Orphanet:431149"} xref: ICD10CM:D81.8 {source="Orphanet:431149", source="Orphanet:431149/attributed", source="Orphanet:431149/ntbt"} xref: OMIM:615593 {source="MONDO:equivalentTo", source="Orphanet:431149", source="Orphanet:431149/e"} xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"} @@ -285342,12 +293860,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014269 name: combined oxidative phosphorylation deficiency 19 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18466"} synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595] synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2, OMIM:615595] synonym: "COXPD19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615595] synonym: "LYRM4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111476 {source="MONDO:equivalentTo"} +xref: GARD:18466 {source="OMIM:615595"} xref: OMIM:615595 {source="MONDO:equivalentTo"} xref: Orphanet:397593 {source="OMIM:615595"} xref: UMLS:C3810055 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615595"} @@ -285361,6 +293881,7 @@ property_value: confidence "28.000000000000053" xsd:double id: MONDO:0014270 name: STT3A-congenital disorder of glycosylation def: "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." [Orphanet:370921] +subset: gard_rare {source="GARD:17602"} subset: ordo_disease {source="Orphanet:370921"} synonym: "CDG Iw" RELATED [OMIM:615596] synonym: "CDG syndrome type Iw" EXACT [Orphanet:370921] @@ -285373,6 +293894,7 @@ synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EX synonym: "STT3A-CDG" EXACT ABBREVIATION [Orphanet:370921] synonym: "STT3A-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080572 {source="MONDO:equivalentTo"} +xref: GARD:17602 {source="Orphanet:370921"} xref: ICD10CM:E77.8 {source="Orphanet:370921/attributed", source="Orphanet:370921/ntbt", source="Orphanet:370921"} xref: OMIM:615596 {source="Orphanet:370921/e", source="MONDO:equivalentTo", source="Orphanet:370921"} xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"} @@ -285390,6 +293912,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014271 name: STT3B-congenital disorder of glycosylation def: "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." [Orphanet:370924] +subset: gard_rare {source="GARD:17603"} subset: ordo_disease {source="Orphanet:370924"} synonym: "carbohydrate deficient glycoprotein syndrome type IX" EXACT [Orphanet:370924] synonym: "CDG IX" RELATED [OMIM:615597] @@ -285402,6 +293925,7 @@ synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, synonym: "STT3B-CDG" EXACT ABBREVIATION [Orphanet:370924] synonym: "STT3B-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] xref: DOID:0080573 {source="MONDO:equivalentTo"} +xref: GARD:17603 {source="Orphanet:370924"} xref: ICD10CM:E77.8 {source="Orphanet:370924", source="Orphanet:370924/attributed", source="Orphanet:370924/ntbt"} xref: MESH:C535751 {source="MONDO:equivalentTo"} xref: OMIM:615597 {source="Orphanet:370924", source="MONDO:equivalentTo", source="Orphanet:370924/e"} @@ -285420,11 +293944,13 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0014272 name: palmoplantar keratoderma, Nagashima type def: "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." [Orphanet:140966] +subset: gard_rare {source="GARD:16967"} subset: ordo_disease {source="Orphanet:140966"} synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966] synonym: "palmoplantar keratoderma, Nagashima type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615598] synonym: "PPK, Nagashima type" EXACT [Orphanet:140966] synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615598] +xref: GARD:16967 {source="Orphanet:140966"} xref: ICD10CM:Q82.8 {source="Orphanet:140966/attributed", source="Orphanet:140966/ntbt", source="Orphanet:140966"} xref: OMIM:615598 {source="Orphanet:140966/e", source="MONDO:equivalentTo", source="Orphanet:140966"} xref: Orphanet:140966 {source="OMIM:615598", source="MONDO:equivalentTo"} @@ -285443,6 +293969,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014273 name: microcephaly-thin corpus callosum-intellectual disability syndrome def: "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." [Orphanet:397951] +subset: gard_rare {source="GARD:17645"} subset: ordo_disease {source="Orphanet:397951"} synonym: "intellectual developmental disorder, autosomal recessive 40" EXACT [OMIM:615599, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:615599] @@ -285452,6 +293979,7 @@ synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MON synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT CLINGEN_PREFERRED [] synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] xref: DOID:0081205 {source="MONDO:equivalentTo"} +xref: GARD:17645 {source="Orphanet:397951"} xref: ICD10CM:Q87.8 {source="Orphanet:397951", source="Orphanet:397951/attributed", source="Orphanet:397951/ntbt"} xref: OMIM:615599 {source="MONDO:equivalentTo", source="Orphanet:397951", source="Orphanet:397951/e"} xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"} @@ -285467,10 +293995,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014274 name: L-ferritin deficiency +subset: gard_rare {source="GARD:17748"} subset: ordo_biological_anomaly {source="Orphanet:440731"} synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604] synonym: "L-ferritin deficiency, dominant and recessive" EXACT [OMIM:615604, OMIM:genemap2] synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615604] +xref: GARD:17748 {source="Orphanet:440731"} xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="Orphanet:440731/e"} xref: Orphanet:440731 {source="MONDO:equivalentTo"} xref: UMLS:C3810090 {source="MONDO:equivalentTo", source="OMIM:615604", source="MONDO:ncbi_mim2gene_medline"} @@ -285484,12 +294014,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014275 name: Fanconi renotubular syndrome 3 def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15991"} synonym: "EHHADH Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi renotubular syndrome 3" EXACT [MONDO:Lexical, OMIM:615605] synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1, OMIM:615605] synonym: "Fanconi syndrome caused by mutation in EHHADH" EXACT [MONDO:design_pattern] synonym: "FRTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615605] xref: DOID:0080759 {source="MONDO:equivalentTo"} +xref: GARD:15991 {source="OMIM:615605"} xref: OMIM:615605 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="OMIM:615605"} xref: UMLS:C3810100 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615605"} @@ -285504,7 +294036,7 @@ property_value: confidence "1.382352941176471" xsd:double id: MONDO:0014276 name: combined immunodeficiency due to CD3gamma deficiency def: "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." [Orphanet:169082] -subset: gard_rare +subset: gard_rare {source="GARD:17046"} subset: ordo_disease {source="Orphanet:169082"} synonym: "CD3 deficiency" EXACT [GARD:0009521] synonym: "CD3-gamma deficiency" EXACT [OMIM:615607] @@ -285517,6 +294049,7 @@ synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607] synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [OMIM:615607] xref: DOID:0060018 {source="MONDO:equivalentTo"} xref: DOID:0111973 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:17046 {source="Orphanet:169082"} xref: ICD10CM:D81.2 {source="Orphanet:169082", source="Orphanet:169082/attributed", source="Orphanet:169082/ntbt"} xref: OMIM:615607 {source="MONDO:equivalentTo", source="Orphanet:169082", source="Orphanet:169082/e"} xref: Orphanet:169082 {source="MONDO:equivalentTo", source="OMIM:615607"} @@ -285548,6 +294081,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0014278 name: immunodeficiency 18 def: "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." [PMID:15546002] +subset: gard_rare {source="GARD:18295"} synonym: "CD3-Epsilon deficiency" EXACT [OMIM:615615] synonym: "IMD18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615615] synonym: "immunodeficiency 18" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615615] @@ -285556,6 +294090,7 @@ synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [ synonym: "immunodeficiency type 18" EXACT [MONDORULE:2, OMIM:615615] xref: DOID:0060017 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111971 {source="MONDO:equivalentTo"} +xref: GARD:18295 {source="OMIM:615615"} xref: OMIM:615615 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="OMIM:615615"} xref: UMLS:C3810127 {source="MONDO:equivalentTo", source="OMIM:615615", source="MONDO:ncbi_mim2gene_medline"} @@ -285577,6 +294112,7 @@ replaced_by: MONDO:0000908 id: MONDO:0014280 name: immunodeficiency 19 def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18296"} synonym: "CD3-Delta deficiency" RELATED [OMIM:615617] synonym: "CD3D" EXACT ABBREVIATION [DOID:0060016] synonym: "CD3D severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -285589,6 +294125,7 @@ synonym: "severe combined immunodeficiency (disease) caused by mutation in CD3D" synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617] xref: DOID:0060016 {source="MONDO:equivalentTo"} xref: DOID:0111972 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:18296 {source="OMIM:615617"} xref: OMIM:615617 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="OMIM:615617"} xref: UMLS:C3810147 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615617"} @@ -285603,9 +294140,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014281 name: cholangiocarcinoma, susceptibility to +subset: gard_rare {source="GARD:15992"} subset: predisposition synonym: "Chlc, susceptibility to" RELATED [OMIM:615619] synonym: "cholangiocarcinoma, susceptibility to" EXACT [OMIM:615619] +xref: GARD:15992 {source="OMIM:615619"} xref: OMIM:615619 {source="MONDO:equivalentTo"} xref: Orphanet:70567 {source="OMIM:615619"} xref: UMLS:C3810156 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615619"} @@ -285620,6 +294159,7 @@ id: MONDO:0014282 name: hereditary spastic paraplegia 72 def: "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance +subset: gard_rare {source="GARD:17660"} subset: ordo_disease {source="Orphanet:401849"} subset: ordo_inheritance_inconsistent synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817] @@ -285630,6 +294170,7 @@ synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625, OMIM:g synonym: "spastic paraplegia 72, autosomal recessive" NARROW [OMIM:615625, OMIM:genemap2] synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, OMIM:615625, Orphanet:401849] xref: DOID:0110817 {source="MONDO:equivalentTo"} +xref: GARD:17660 {source="Orphanet:401849"} xref: ICD10CM:G11.4 {source="DOID:0110817", source="Orphanet:401849/attributed", source="Orphanet:401849/ntbt", source="Orphanet:401849"} xref: OMIM:615625 {source="Orphanet:401849/e", source="MONDO:equivalentTo", source="DOID:0110817", source="Orphanet:401849"} xref: Orphanet:401849 {source="MONDO:equivalentTo", source="OMIM:615625", source="DOID:0110817"} @@ -285646,6 +294187,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014283 name: autosomal dominant nonsyndromic hearing loss 56 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18137"} synonym: "autosomal dominant deafness 56" NARROW [DOID:0110581] synonym: "autosomal dominant nonsyndromic deafness 56" NARROW [OMIM:615629] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" NARROW [MONDO:design_pattern] @@ -285655,6 +294197,7 @@ synonym: "deafness, autosomal dominant type 56" NARROW [MONDORULE:2, OMIM:615629 synonym: "DFNA56" NARROW ABBREVIATION [DOID:0110581, MONDO:Lexical, OMIM:615629] synonym: "TNC autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110581 {source="MONDO:equivalentTo"} +xref: GARD:18137 {source="OMIM:615629"} xref: ICD10CM:H90.3 {source="DOID:0110581"} xref: OMIM:615629 {source="MONDO:equivalentTo", source="DOID:0110581"} xref: UMLS:C3810170 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615629"} @@ -285669,9 +294212,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014284 name: short-rib thoracic dysplasia 10 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." [DOID:0110091, PMID:24140113] +subset: gard_rare {source="GARD:15993"} synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615630] synonym: "SRTD10" EXACT ABBREVIATION [DOID:0110091, MONDO:Lexical, OMIM:615630] xref: DOID:0110091 {source="MONDO:equivalentTo"} +xref: GARD:15993 {source="OMIM:615630"} xref: ICD10CM:Q77.2 {source="DOID:0110091"} xref: ICD10CM:Q87.5 {source="DOID:0110091"} xref: OMIM:615630 {source="DOID:0110091", source="MONDO:equivalentTo"} @@ -285685,12 +294230,14 @@ property_value: confidence "0.7173913043478257" xsd:double [Term] id: MONDO:0014285 name: congenital dyserythropoietic anemia type type 1B +subset: gard_rare {source="GARD:15994"} synonym: "anemia, congenital dyserythropoietic, type IB" EXACT [MONDO:Lexical, OMIM:615631] synonym: "CDA, type IB" RELATED [OMIM:615631] synonym: "CDAN1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615631] synonym: "congenital dyserythropoietic anemia type type 1B" EXACT CLINGEN_PREFERRED [] synonym: "dyserythropoietic anemia, congenital, type IB" EXACT [OMIM:615631, OMIM:genemap2] xref: DOID:0111397 {source="MONDO:equivalentTo"} +xref: GARD:15994 {source="OMIM:615631"} xref: OMIM:615631 {source="MONDO:equivalentTo"} xref: Orphanet:98869 {source="OMIM:615631"} xref: UMLS:C3810185 {source="OMIM:615631", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -285706,6 +294253,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014286 name: neuropathy, hereditary sensory, type 1F def: "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15995"} synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern] synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154] @@ -285715,6 +294263,7 @@ synonym: "HSN1F" EXACT ABBREVIATION [DOID:0070154, MONDO:Lexical, OMIM:615632] synonym: "neuropathy, hereditary sensory, type 1F" EXACT CLINGEN_PREFERRED [] synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical, OMIM:615632] xref: DOID:0070154 {source="MONDO:equivalentTo"} +xref: GARD:15995 {source="OMIM:615632"} xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:615632"} xref: UMLS:C3810194 {source="OMIM:615632", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -285727,9 +294276,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014287 name: short-rib thoracic dysplasia 11 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." [DOID:0110095, PMID:24183449] +subset: gard_rare {source="GARD:15996"} synonym: "short-rib thoracic dysplasia 11 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615633] synonym: "SRTD11" EXACT ABBREVIATION [DOID:0110095, MONDO:Lexical, OMIM:615633] xref: DOID:0110095 {source="MONDO:equivalentTo"} +xref: GARD:15996 {source="OMIM:615633"} xref: ICD10CM:Q77.2 {source="DOID:0110095"} xref: OMIM:615633 {source="DOID:0110095", source="MONDO:equivalentTo"} xref: Orphanet:474 {source="OMIM:615633"} @@ -285744,12 +294295,14 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014288 name: Joubert syndrome 21 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15997"} synonym: "CSPP1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS21" EXACT ABBREVIATION [DOID:0110990, MONDO:Lexical, OMIM:615636] synonym: "Joubert syndrome 21" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615636] synonym: "Joubert syndrome caused by mutation in CSPP1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 21" EXACT [DOID:0110990, MONDORULE:2, OMIM:615636] xref: DOID:0110990 {source="MONDO:equivalentTo"} +xref: GARD:15997 {source="OMIM:615636"} xref: OMIM:615636 {source="MONDO:equivalentTo", source="DOID:0110990"} xref: Orphanet:397715 {source="OMIM:615636"} xref: Orphanet:475 {source="OMIM:615636"} @@ -285765,6 +294318,7 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0014289 name: macrocephaly-developmental delay syndrome def: "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." [Orphanet:397612] +subset: gard_rare {source="GARD:17630"} subset: ordo_malformation_syndrome {source="Orphanet:397612"} synonym: "intellectual disability, autosomal recessive 41" RELATED [MONDO:Lexical, OMIM:615637] synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE:2, OMIM:615637] @@ -285772,6 +294326,7 @@ synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:615637] synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] xref: DOID:0081206 {source="MONDO:equivalentTo"} +xref: GARD:17630 {source="Orphanet:397612"} xref: ICD10CM:Q75.3 {source="Orphanet:397612", source="Orphanet:397612/attributed", source="Orphanet:397612/ntbt"} xref: OMIM:615637 {source="MONDO:equivalentTo", source="Orphanet:397612", source="Orphanet:397612/e"} xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"} @@ -285787,6 +294342,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014290 name: neurodegeneration with brain iron accumulation 6 def: "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." [Orphanet:397725] +subset: gard_rare {source="GARD:12571"} subset: ordo_disease {source="Orphanet:397725"} synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725] @@ -285797,6 +294353,7 @@ synonym: "neurodegeneration with brain iron accumulation caused by mutation in C synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725] synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643] xref: DOID:0110740 {source="MONDO:equivalentTo"} +xref: GARD:12571 {source="Orphanet:397725"} xref: ICD10CM:G23.0 {source="Orphanet:397725", source="Orphanet:397725/attributed", source="Orphanet:397725/ntbt", source="DOID:0110740"} xref: OMIM:615643 {source="Orphanet:397725/e", source="MONDO:equivalentTo", source="Orphanet:397725", source="DOID:0110740"} xref: Orphanet:397725 {source="OMIM:615643", source="MONDO:equivalentTo", source="DOID:0110740"} @@ -285812,12 +294369,14 @@ property_value: confidence "14.384615384615389" xsd:double id: MONDO:0014291 name: autosomal dominant nonsyndromic hearing loss 54 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." [DOID:0110580, PMID:15490091] +subset: gard_rare {source="GARD:18138"} synonym: "autosomal dominant deafness 54" NARROW [DOID:0110580] synonym: "autosomal dominant nonsyndromic deafness 54" NARROW [OMIM:615649] synonym: "autosomal dominant nonsyndromic deafness type 54" NARROW [DOID:0110580, MONDORULE:2] synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical, OMIM:615649, OMIM:genemap2] synonym: "DFNA54" NARROW ABBREVIATION [DOID:0110580, MONDO:Lexical, OMIM:615649] xref: DOID:0110580 {source="MONDO:equivalentTo"} +xref: GARD:18138 {source="OMIM:615649"} xref: ICD10CM:H90.3 {source="DOID:0110580"} xref: OMIM:615649 {source="MONDO:equivalentTo", source="DOID:0110580"} xref: UMLS:C1539274 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:615649"} @@ -285829,9 +294388,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014292 name: leukoencephalopathy with mild cerebellar ataxia and white matter edema +subset: gard_rare {source="GARD:17565"} subset: ordo_disease {source="Orphanet:363540"} synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651] synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615651] +xref: GARD:17565 {source="Orphanet:363540"} xref: ICD10CM:E75.2 {source="Orphanet:363540", source="Orphanet:363540/attributed", source="Orphanet:363540/ntbt"} xref: NCIT:C171603 {source="MONDO:equivalentTo"} xref: OMIM:615651 {source="Orphanet:363540", source="MONDO:equivalentTo", source="Orphanet:363540/e"} @@ -285846,12 +294407,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014293 name: autosomal dominant nonsyndromic hearing loss 58 def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." [DOID:0110582, PMID:19159392] +subset: gard_rare {source="GARD:18139"} synonym: "autosomal dominant deafness 58" NARROW [DOID:0110582] synonym: "autosomal dominant nonsyndromic deafness 58" NARROW [OMIM:615654] synonym: "autosomal dominant nonsyndromic deafness type 58" NARROW [DOID:0110582, MONDORULE:2] synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical, OMIM:615654, OMIM:genemap2] synonym: "DFNA58" NARROW ABBREVIATION [DOID:0110582, MONDO:Lexical, OMIM:615654] xref: DOID:0110582 {source="MONDO:equivalentTo"} +xref: GARD:18139 {source="OMIM:615654"} xref: ICD10CM:H90.3 {source="DOID:0110582"} xref: OMIM:615654 {source="MONDO:equivalentTo", source="DOID:0110582"} xref: UMLS:C2681408 {source="OMIM:615654", source="MONDO:notFoundInDiseaseSubset"} @@ -285864,6 +294427,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014294 name: chromosome 15q11.2 deletion syndrome def: "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." [Orphanet:261183] +subset: gard_rare {source="GARD:10525"} subset: ordo_malformation_syndrome {source="Orphanet:261183"} synonym: "15q11.2 BP1-BP2 microdeletion syndrome" EXACT [Orphanet:261183] synonym: "15q11.2 microdeletion" RELATED [GARD:0010525] @@ -285874,6 +294438,7 @@ synonym: "chromosome 15q11.2 microdeletion" RELATED [GARD:0010525] synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183] synonym: "monosomy 15q11.2" EXACT [Orphanet:261183] xref: DOID:0060393 {source="MONDO:equivalentTo"} +xref: GARD:10525 {source="Orphanet:261183"} xref: ICD10CM:Q93.5 {source="Orphanet:261183", source="Orphanet:261183/attributed", source="Orphanet:261183/ntbt"} xref: MESH:C557830 {source="DOID:0060393"} xref: OMIM:615656 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"} @@ -285891,6 +294456,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014295 name: hereditary spastic paraplegia 57 def: "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." [Orphanet:431329] +subset: gard_rare {source="GARD:17712"} subset: ordo_disease {source="Orphanet:431329"} synonym: "autosomal recessive spastic paraplegia 57" EXACT [DOID:0110809] synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809] @@ -285902,6 +294468,7 @@ synonym: "SPG57" EXACT ABBREVIATION [DOID:0110809, MONDO:Lexical, OMIM:615658, O synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110809 {source="MONDO:equivalentTo"} xref: EFO:0009017 {source="MONDO:equivalentTo"} +xref: GARD:17712 {source="Orphanet:431329"} xref: ICD10CM:G11.4 {source="Orphanet:431329/attributed", source="Orphanet:431329/ntbt", source="Orphanet:431329", source="DOID:0110809"} xref: OMIM:615658 {source="Orphanet:431329/e", source="MONDO:equivalentTo", source="Orphanet:431329", source="DOID:0110809"} xref: Orphanet:431329 {source="MONDO:equivalentTo", source="OMIM:615658", source="DOID:0110809"} @@ -285920,6 +294487,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014296 name: Warburg micro syndrome 4 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15998"} synonym: "micro syndrome 4" EXACT [DOID:0110719] synonym: "TBC1D20 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM4" EXACT ABBREVIATION [DOID:0110719, MONDO:Lexical, OMIM:615663] @@ -285928,6 +294496,7 @@ synonym: "Warburg micro syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM synonym: "Warburg micro syndrome caused by mutation in TBC1D20" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 4" EXACT [DOID:0110719, MONDORULE:1, OMIM:615663] xref: DOID:0110719 {source="MONDO:equivalentTo"} +xref: GARD:15998 {source="OMIM:615663"} xref: ICD10CM:Q87.0 {source="DOID:0110719"} xref: OMIM:615663 {source="MONDO:equivalentTo", source="DOID:0110719"} xref: Orphanet:2510 {source="OMIM:615663"} @@ -285943,12 +294512,14 @@ property_value: confidence "0.8609986602670641" xsd:double id: MONDO:0014297 name: Joubert syndrome 22 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15999"} synonym: "JBTS22" EXACT ABBREVIATION [DOID:0110991, MONDO:Lexical, OMIM:615665] synonym: "Joubert syndrome 22" EXACT [MONDO:Lexical, OMIM:615665] synonym: "Joubert syndrome caused by mutation in PDE6D" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 22" EXACT [DOID:0110991, MONDORULE:2, OMIM:615665] synonym: "PDE6D Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110991 {source="MONDO:equivalentTo"} +xref: GARD:15999 {source="OMIM:615665"} xref: OMIM:615665 {source="MONDO:equivalentTo", source="DOID:0110991"} xref: Orphanet:2754 {source="OMIM:615665"} xref: UMLS:C3810278 {source="OMIM:615665", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -285962,10 +294533,12 @@ property_value: confidence "0.5677052714089748" xsd:double id: MONDO:0014298 name: chromosome 5q12 deletion syndrome def: "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." [Orphanet:439822] +subset: gard_rare {source="GARD:17742"} subset: ordo_malformation_syndrome {source="Orphanet:439822"} synonym: "chromosome 5q12 deletion syndrome" EXACT [OMIM:615668] synonym: "PDE4D haploinsufficiency syndrome" RELATED [Orphanet:439822] xref: DOID:0060421 {source="MONDO:equivalentTo"} +xref: GARD:17742 {source="Orphanet:439822"} xref: OMIM:615668 {source="Orphanet:439822", source="Orphanet:439822/nd", source="DOID:0060421", source="MONDO:equivalentTo"} xref: Orphanet:439822 {source="MONDO:equivalentTo"} xref: UMLS:C3810282 {source="OMIM:615668", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -285983,11 +294556,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014299 name: schwannomatosis 2 +subset: gard_rare {source="GARD:16000"} synonym: "SCHWANNOMATOSIS 2" RELATED [OMIM:615670] synonym: "schwannomatosis 2" EXACT [MONDO:Lexical, OMIM:615670] synonym: "Schwannomatosis type 2" EXACT [MONDORULE:1, OMIM:615670] synonym: "schwannomatosis-2, susceptibility to" RELATED [OMIM:615670, OMIM:genemap2] synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615670] +xref: GARD:16000 {source="OMIM:615670"} xref: OMIM:615670 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:615670"} xref: UMLS:C3810283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615670"} @@ -286001,10 +294576,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014300 name: proximal myopathy with extrapyramidal signs def: "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." [Orphanet:401768] +subset: gard_rare {source="GARD:12978"} subset: ordo_disease {source="Orphanet:401768"} synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615673] synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673] xref: DOID:0111335 {source="MONDO:equivalentTo"} +xref: GARD:12978 {source="Orphanet:401768"} xref: ICD10CM:G71.3 {source="Orphanet:401768", source="Orphanet:401768/attributed", source="Orphanet:401768/ntbt"} xref: OMIM:615673 {source="MONDO:equivalentTo", source="Orphanet:401768", source="Orphanet:401768/e"} xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"} @@ -286019,8 +294596,10 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014301 name: dowling-degos disease 3 +subset: gard_rare {source="GARD:16001"} synonym: "DDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615674] synonym: "Dowling-Degos disease 3" RELATED [MONDO:Lexical, OMIM:615674] +xref: GARD:16001 {source="OMIM:615674"} xref: OMIM:615674 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:615674"} xref: UMLS:C3810286 {source="OMIM:615674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286032,6 +294611,7 @@ property_value: confidence "1.323033492822967" xsd:double id: MONDO:0014302 name: hereditary spastic paraplegia 62 def: "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." [Orphanet:401785] +subset: gard_rare {source="GARD:17657"} subset: ordo_disease {source="Orphanet:401785"} synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813] @@ -286041,6 +294621,7 @@ synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE: synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681] synonym: "SPG62" EXACT ABBREVIATION [DOID:0110813, OMIM:615681, Orphanet:401785] xref: DOID:0110813 {source="MONDO:equivalentTo"} +xref: GARD:17657 {source="Orphanet:401785"} xref: ICD10CM:G11.4 {source="Orphanet:401785", source="DOID:0110813", source="Orphanet:401785/attributed", source="Orphanet:401785/ntbt"} xref: OMIM:615681 {source="Orphanet:401785", source="DOID:0110813", source="MONDO:equivalentTo", source="Orphanet:401785/e"} xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"} @@ -286056,6 +294637,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014303 name: hereditary spastic paraplegia 64 def: "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." [Orphanet:401810] +subset: gard_rare {source="GARD:17659"} subset: ordo_disease {source="Orphanet:401810"} synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815] @@ -286065,6 +294647,7 @@ synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE: synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683] synonym: "SPG64" EXACT ABBREVIATION [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810] xref: DOID:0110815 {source="MONDO:equivalentTo"} +xref: GARD:17659 {source="Orphanet:401810"} xref: ICD10CM:G11.4 {source="Orphanet:401810/attributed", source="Orphanet:401810/ntbt", source="Orphanet:401810", source="DOID:0110815"} xref: OMIM:615683 {source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo", source="Orphanet:401810/e"} xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", source="OMIM:615683"} @@ -286081,6 +294664,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014304 name: hereditary spastic paraplegia 61 def: "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." [Orphanet:401780] +subset: gard_rare {source="GARD:17656"} subset: ordo_disease {source="Orphanet:401780"} synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern] @@ -286091,6 +294675,7 @@ synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE: synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685] synonym: "SPG61" EXACT ABBREVIATION [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780] xref: DOID:0110812 {source="MONDO:equivalentTo"} +xref: GARD:17656 {source="Orphanet:401780"} xref: ICD10CM:G11.4 {source="DOID:0110812", source="Orphanet:401780/attributed", source="Orphanet:401780/ntbt", source="Orphanet:401780"} xref: OMIM:615685 {source="Orphanet:401780/e", source="DOID:0110812", source="MONDO:equivalentTo", source="Orphanet:401780"} xref: Orphanet:401780 {source="OMIM:615685", source="DOID:0110812", source="MONDO:equivalentTo"} @@ -286107,6 +294692,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014305 name: hereditary spastic paraplegia 63 def: "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." [Orphanet:401805] +subset: gard_rare {source="GARD:17658"} subset: ordo_disease {source="Orphanet:401805"} synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] @@ -286117,6 +294703,7 @@ synonym: "spastic paraplegia 63" EXACT [DOID:0110814] synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686] synonym: "SPG63" EXACT ABBREVIATION [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805] xref: DOID:0110814 {source="MONDO:equivalentTo"} +xref: GARD:17658 {source="Orphanet:401805"} xref: ICD10CM:G11.4 {source="DOID:0110814", source="Orphanet:401805/attributed", source="Orphanet:401805/ntbt", source="Orphanet:401805"} xref: OMIM:615686 {source="Orphanet:401805/e", source="MONDO:equivalentTo", source="DOID:0110814", source="Orphanet:401805"} xref: Orphanet:401805 {source="OMIM:615686", source="MONDO:equivalentTo", source="DOID:0110814"} @@ -286132,6 +294719,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014306 name: vasculitis due to ADA2 deficiency def: "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." [Orphanet:404553] +subset: gard_rare {source="GARD:12383"} subset: ordo_disease {source="Orphanet:404553"} synonym: "ADA2 deficiency" EXACT [OMIM:615688] synonym: "adenosine deaminase 2 deficiency" EXACT [GARD:0012383] @@ -286141,6 +294729,7 @@ synonym: "PAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615688] synonym: "polyarteritis nodosa, childhood-onset" EXACT [MONDO:Lexical, OMIM:615688] synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553] synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688, OMIM:genemap2] +xref: GARD:12383 {source="Orphanet:404553"} xref: ICD10CM:M30.8 {source="Orphanet:404553/attributed", source="Orphanet:404553/ntbt", source="Orphanet:404553"} xref: OMIM:615688 {source="Orphanet:404553/e", source="MONDO:equivalentTo", source="Orphanet:404553"} xref: Orphanet:404553 {source="OMIM:615688", source="MONDO:equivalentTo"} @@ -286162,11 +294751,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014307 name: Dowling-Degos disease 4 def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16002"} synonym: "DDD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615696] synonym: "Dowling-Degos disease 4" EXACT [MONDO:Lexical, OMIM:615696] synonym: "Dowling-Degos disease caused by mutation in POGLUT1" EXACT [MONDO:design_pattern] synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1, OMIM:615696] synonym: "POGLUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16002 {source="OMIM:615696"} xref: OMIM:615696 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:615696"} xref: UMLS:C3810313 {source="OMIM:615696", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286182,10 +294773,12 @@ id: MONDO:0014308 name: familial temporal lobe epilepsy 6 def: "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26." [DOID:0060749, PMID:24021842] comment: Editor note: TODO +subset: gard_rare {source="GARD:18281"} synonym: "epilepsy, familial temporal lobe, 6" RELATED [MONDO:Lexical, OMIM:615697] synonym: "ETL6" EXACT ABBREVIATION [DOID:0060749, MONDO:Lexical, OMIM:615697] synonym: "familial temporal lobe epilepsy type 6" EXACT [DOID:0060749, MONDORULE:1] xref: DOID:0060749 {source="MONDO:equivalentTo"} +xref: GARD:18281 {source="OMIM:615697"} xref: OMIM:615697 {source="MONDO:equivalentTo", source="DOID:0060749"} xref: Orphanet:163717 {source="OMIM:615697", source="DOID:0060749"} xref: UMLS:C3810320 {source="OMIM:615697", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286195,9 +294788,11 @@ property_value: confidence "0.26984126984127" xsd:double [Term] id: MONDO:0014309 name: obesity due to CEP19 deficiency +subset: gard_rare {source="GARD:17631"} subset: ordo_disease {source="Orphanet:397615"} synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703] synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615703] +xref: GARD:17631 {source="Orphanet:397615"} xref: ICD10CM:E66.8 {source="Orphanet:397615", source="Orphanet:397615/attributed", source="Orphanet:397615/ntbt"} xref: OMIM:615703 {source="Orphanet:397615/e", source="MONDO:equivalentTo", source="Orphanet:397615"} xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"} @@ -286212,6 +294807,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014310 name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement def: "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." [Orphanet:221043] +subset: gard_rare {source="GARD:13218"} subset: ordo_disease {source="Orphanet:221043"} synonym: "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [GARD:0013218] synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [Orphanet:221043] @@ -286219,6 +294815,7 @@ synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [OMIM:615704] synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704] synonym: "POIKTMP syndrome" EXACT [Orphanet:221043] +xref: GARD:13218 {source="Orphanet:221043"} xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="Orphanet:221043/attributed", source="Orphanet:221043/ntbt"} xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="Orphanet:221043/e"} xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"} @@ -286233,6 +294830,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014311 name: autosomal recessive spinocerebellar ataxia 15 def: "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17678"} subset: ordo_disease {source="Orphanet:404499"} synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" EXACT [] synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499] @@ -286246,6 +294844,7 @@ synonym: "SCAR15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615705, Orphanet:40449 synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705] synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705] xref: DOID:0080057 {source="MONDO:equivalentTo"} +xref: GARD:17678 {source="Orphanet:404499"} xref: ICD10CM:G11.1 {source="Orphanet:404499/attributed", source="Orphanet:404499/ntbt", source="Orphanet:404499"} xref: OMIM:615705 {source="DOID:0080057", source="Orphanet:404499/e", source="MONDO:equivalentTo", source="Orphanet:404499"} xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"} @@ -286259,10 +294858,12 @@ property_value: confidence "12.4375" xsd:double [Term] id: MONDO:0014312 name: auriculocondylar syndrome 3 +subset: gard_rare {source="GARD:16003"} synonym: "ARCND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615706] synonym: "AURICULOCONDYLAR syndrome 3" RELATED [OMIM:615706] synonym: "Auriculocondylar syndrome 3" EXACT [MONDO:Lexical, OMIM:615706] synonym: "Auriculocondylar syndrome type 3" EXACT [MONDORULE:1, OMIM:615706] +xref: GARD:16003 {source="OMIM:615706"} xref: OMIM:615706 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:615706"} xref: UMLS:C3810332 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615706"} @@ -286274,6 +294875,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014313 name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity +subset: gard_rare {source="GARD:17732"} subset: ordo_disease {source="Orphanet:437552"} synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [Orphanet:437552] synonym: "CD16 deficiency" EXACT [Orphanet:437552] @@ -286281,6 +294883,7 @@ synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707] xref: DOID:0111941 {source="MONDO:equivalentTo"} +xref: GARD:17732 {source="Orphanet:437552"} xref: ICD10CM:D84.8 {source="Orphanet:437552/attributed", source="Orphanet:437552/ntbt", source="Orphanet:437552"} xref: OMIM:615707 {source="Orphanet:437552/e", source="MONDO:equivalentTo", source="Orphanet:437552"} xref: Orphanet:437552 {source="MONDO:equivalentTo"} @@ -286296,9 +294899,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014314 name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome +subset: gard_rare {source="GARD:17642"} subset: ordo_malformation_syndrome {source="Orphanet:397927"} synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709] synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615709] +xref: GARD:17642 {source="Orphanet:397927"} xref: ICD10CM:Q87.5 {source="Orphanet:397927/attributed", source="Orphanet:397927/ntbt", source="Orphanet:397927"} xref: OMIM:615709 {source="Orphanet:397927/e", source="MONDO:equivalentTo", source="Orphanet:397927"} xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"} @@ -286341,12 +294946,14 @@ property_value: confidence "1.7975949917804632" xsd:double [Term] id: MONDO:0014317 name: pancytopenia-developmental delay syndrome +subset: gard_rare {source="GARD:17655"} subset: ordo_disease {source="Orphanet:401764"} synonym: "BMFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615715] synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715] synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715] synonym: "pancytopenia-developmental delay syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764] +xref: GARD:17655 {source="Orphanet:401764"} xref: ICD10CM:D61.0 {source="Orphanet:401764/attributed", source="Orphanet:401764/ntbt", source="Orphanet:401764"} xref: OMIM:615715 {source="Orphanet:401764", source="MONDO:equivalentTo", source="Orphanet:401764/e"} xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"} @@ -286360,6 +294967,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014318 name: hyperphosphatasia with intellectual disability syndrome 4 def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18352"} synonym: "glycosylphosphatidylinositol biosynthesis defect 10" RELATED [OMIM:615716] synonym: "HPMRS4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615716] synonym: "hyperphosphatasia with intellectual disability syndrome 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615716] @@ -286368,6 +294976,7 @@ synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT DEPRECATED synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615716] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3" EXACT [MONDO:design_pattern] synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18352 {source="OMIM:615716"} xref: OMIM:615716 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:615716"} xref: UMLS:C3810354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615716"} @@ -286399,11 +295008,13 @@ property_value: confidence "0.0" xsd:double id: MONDO:0014320 name: Bosch-Boonstra-Schaaf optic atrophy syndrome def: "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." [Orphanet:401777] +subset: gard_rare {source="GARD:12903"} subset: ordo_disease {source="Orphanet:401777"} synonym: "BBSOAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615722] synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [Orphanet:401777] xref: DOID:0112226 {source="MONDO:equivalentTo"} +xref: GARD:12903 {source="Orphanet:401777"} xref: ICD10CM:H47.2 {source="Orphanet:401777/attributed", source="Orphanet:401777/ntbt", source="MONDO:relatedTo", source="Orphanet:401777"} xref: OMIM:615722 {source="Orphanet:401777", source="MONDO:equivalentTo", source="Orphanet:401777/e"} xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"} @@ -286459,12 +295070,14 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0014323 name: retinitis pigmentosa 68 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16004"} synonym: "retinitis pigmentosa 68" EXACT [MONDO:Lexical, OMIM:615725] synonym: "retinitis pigmentosa caused by mutation in SLC7A14" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 68" EXACT [DOID:0110374, MONDORULE:2, OMIM:615725] synonym: "RP68" EXACT ABBREVIATION [DOID:0110374, MONDO:Lexical, OMIM:615725] synonym: "SLC7A14 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110374 {source="MONDO:equivalentTo"} +xref: GARD:16004 {source="OMIM:615725"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110374"} xref: OMIM:615725 {source="MONDO:equivalentTo", source="DOID:0110374"} xref: UMLS:C3810380 {source="MONDO:equivalentTo", source="OMIM:615725", source="MONDO:ncbi_mim2gene_medline"} @@ -286477,11 +295090,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014324 name: pachyonychia congenita 3 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16005"} synonym: "KRT6A pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 3" EXACT [MONDO:Lexical, OMIM:615726] synonym: "pachyonychia congenita caused by mutation in KRT6A" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1, OMIM:615726] synonym: "PC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615726] +xref: GARD:16005 {source="OMIM:615726"} xref: OMIM:615726 {source="MONDO:equivalentTo"} xref: Orphanet:2309 {source="OMIM:615726"} xref: UMLS:C3714948 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615726"} @@ -286495,11 +295110,13 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014325 name: pachyonychia congenita 4 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16006"} synonym: "KRT6B pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 4" EXACT [MONDO:Lexical, OMIM:615728] synonym: "pachyonychia congenita caused by mutation in KRT6B" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1, OMIM:615728] synonym: "PC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615728] +xref: GARD:16006 {source="OMIM:615728"} xref: OMIM:615728 {source="MONDO:equivalentTo"} xref: Orphanet:2309 {source="OMIM:615728"} xref: UMLS:C3714949 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615728"} @@ -286513,12 +295130,14 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014326 name: nemaline myopathy 9 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16007"} synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM9" EXACT ABBREVIATION [DOID:0110929, MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy 9" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1, OMIM:615731] xref: DOID:0110929 {source="MONDO:equivalentTo"} +xref: GARD:16007 {source="OMIM:615731"} xref: OMIM:615731 {source="MONDO:equivalentTo", source="DOID:0110929"} xref: Orphanet:607 {source="OMIM:615731"} xref: UMLS:C3810384 {source="OMIM:615731", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286535,11 +295154,13 @@ property_value: confidence "1.022727272727273" xsd:double [Term] id: MONDO:0014327 name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse +subset: gard_rare {source="GARD:17669"} subset: ordo_disease {source="Orphanet:402003"} synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [Orphanet:402003] synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" EXACT [MONDO:Lexical, OMIM:615735] synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615735] xref: DOID:0111710 {source="MONDO:equivalentTo"} +xref: GARD:17669 {source="Orphanet:402003"} xref: ICD10CM:Q82.8 {source="Orphanet:402003/attributed", source="Orphanet:402003/ntbt", source="Orphanet:402003"} xref: OMIM:615735 {source="Orphanet:402003/e", source="MONDO:equivalentTo", source="Orphanet:402003"} xref: Orphanet:402003 {source="MONDO:equivalentTo", source="OMIM:615735"} @@ -286555,6 +295176,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014328 name: developmental and epileptic encephalopathy, 19 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16008"} synonym: "DEE19" EXACT ABBREVIATION [OMIM:615744] synonym: "developmental and epileptic encephalopathy 19" EXACT [OMIM:615744, OMIM:genemap2] synonym: "Early Infantile epileptic encephalopathy 19" EXACT [NCIT:C142802] @@ -286564,6 +295186,7 @@ synonym: "epileptic encephalopathy, early infantile, 19" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2, OMIM:615744] synonym: "GABRA1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080431 {source="MONDO:equivalentTo"} +xref: GARD:16008 {source="OMIM:615744"} xref: NCIT:C142802 {source="MONDO:equivalentTo"} xref: OMIM:615744 {source="MONDO:equivalentTo"} xref: Orphanet:33069 {source="OMIM:615744"} @@ -286580,6 +295203,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014329 name: atrial standstill 2 def: "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18612"} synonym: "atrial dilation and standstill" RELATED [OMIM:615745] synonym: "atrial standstill 2" EXACT [MONDO:Lexical, OMIM:615745] synonym: "atrial standstill caused by mutation in NPPA" EXACT [MONDO:design_pattern] @@ -286588,6 +295212,7 @@ synonym: "ATRST2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615745] synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [OMIM:615745] synonym: "NPPA atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080663 {source="MONDO:equivalentTo"} +xref: GARD:18612 {source="OMIM:615745"} xref: OMIM:615745 {source="MONDO:equivalentTo"} xref: Orphanet:1344 {source="OMIM:615745"} xref: UMLS:C3810401 {source="OMIM:615745", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286610,10 +295235,12 @@ is_obsolete: true id: MONDO:0014331 name: Moyamoya disease with early-onset achalasia def: "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." [Orphanet:401945] +subset: gard_rare {source="GARD:17664"} subset: ordo_disease {source="Orphanet:401945"} synonym: "moyamoya 6 with achalasia" EXACT [OMIM:615750, OMIM:genemap2] synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750] synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615750] +xref: GARD:17664 {source="Orphanet:401945"} xref: ICD10CM:I67.5 {source="Orphanet:401945", source="Orphanet:401945/attributed", source="Orphanet:401945/ntbt"} xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="Orphanet:401945/e"} xref: Orphanet:401945 {source="MONDO:equivalentTo", source="OMIM:615750"} @@ -286629,6 +295256,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014332 name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +subset: gard_rare {source="GARD:13201"} subset: ordo_disease {source="Orphanet:401948"} synonym: "CA-VA deficiency" EXACT [Orphanet:401948] synonym: "CA5AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615751] @@ -286638,6 +295266,7 @@ synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MOND synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD:0013201] synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT CLINGEN_PREFERRED [] synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201] +xref: GARD:13201 {source="Orphanet:401948"} xref: ICD10CM:E74.8 {source="Orphanet:401948/attributed", source="Orphanet:401948/ntbt", source="Orphanet:401948"} xref: OMIM:615751 {source="Orphanet:401948/e", source="MONDO:equivalentTo", source="Orphanet:401948"} xref: Orphanet:401948 {source="OMIM:615751", source="MONDO:equivalentTo"} @@ -286653,10 +295282,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014333 name: polymicrogyria, bilateral perisylvian, autosomal recessive +subset: gard_rare {source="GARD:16009"} synonym: "BPPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615752] synonym: "Pmgr" RELATED [OMIM:615752] synonym: "polymicrogyria, bilateral perisylvian" EXACT [OMIM:615752, OMIM:genemap2] synonym: "polymicrogyria, bilateral perisylvian, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615752] +xref: GARD:16009 {source="OMIM:615752"} xref: OMIM:615752 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="OMIM:615752"} xref: Orphanet:98889 {source="OMIM:615752"} @@ -286669,6 +295300,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014334 name: severe combined immunodeficiency due to LCK deficiency +subset: gard_rare {source="GARD:17288"} subset: ordo_disease {source="Orphanet:280142"} synonym: "IMD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615758] synonym: "immunodeficiency 22" RELATED [MONDO:Lexical, OMIM:615758] @@ -286677,6 +295309,7 @@ synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] xref: DOID:0111937 {source="MONDO:equivalentTo"} +xref: GARD:17288 {source="Orphanet:280142"} xref: ICD10CM:D81.1 {source="Orphanet:280142", source="Orphanet:280142/attributed", source="Orphanet:280142/ntbt"} xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="Orphanet:280142/e"} xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"} @@ -286688,11 +295321,13 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014335 name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +subset: gard_rare {source="GARD:17672"} subset: ordo_malformation_syndrome {source="Orphanet:404437"} synonym: "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" EXACT CLINGEN_PREFERRED [] synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [OMIM:615760, OMIM:genemap2] synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760] synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615760] +xref: GARD:17672 {source="Orphanet:404437"} xref: ICD10CM:G98 {source="Orphanet:404437/attributed", source="Orphanet:404437/ntbt", source="Orphanet:404437"} xref: OMIM:615760 {source="Orphanet:404437", source="MONDO:equivalentTo", source="Orphanet:404437/e"} xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"} @@ -286706,6 +295341,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014336 name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +subset: gard_rare {source="GARD:17673"} subset: ordo_malformation_syndrome {source="Orphanet:404440"} synonym: "autosomal dominant intellectual disability 23" EXACT [DOID:0070053] synonym: "autosomal dominant mental retardation 23" EXACT DEPRECATED [DOID:0070053] @@ -286718,6 +295354,7 @@ synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2, OMIM:615761] synonym: "MRD23" EXACT ABBREVIATION [DOID:0070053, MONDO:Lexical, OMIM:615761] xref: DOID:0070053 {source="MONDO:equivalentTo"} +xref: GARD:17673 {source="Orphanet:404440"} xref: ICD10CM:Q87.0 {source="Orphanet:404440/attributed", source="Orphanet:404440/ntbt", source="Orphanet:404440"} xref: OMIM:615761 {source="DOID:0070053", source="Orphanet:404440/e", source="MONDO:equivalentTo", source="Orphanet:404440"} xref: Orphanet:404440 {source="MONDO:equivalentTo", source="OMIM:615761"} @@ -286754,6 +295391,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014338 name: IL21-related infantile inflammatory bowel disease +subset: gard_rare {source="GARD:17852"} subset: ordo_disease {source="Orphanet:477661"} synonym: "CVID11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615767] synonym: "IL21 deficiency" RELATED [OMIM:615767] @@ -286761,6 +295399,7 @@ synonym: "IL21-related infantile IBD" EXACT [Orphanet:477661] synonym: "immunodeficiency, common variable, 11" RELATED [MONDO:Lexical, OMIM:615767] synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2, OMIM:615767] xref: DOID:0081153 {source="MONDO:equivalentTo"} +xref: GARD:17852 {source="Orphanet:477661"} xref: OMIM:615767 {source="MONDO:equivalentTo", source="Orphanet:477661"} xref: Orphanet:238569 {source="OMIM:615767"} xref: Orphanet:477661 {source="MONDO:equivalentTo"} @@ -286775,6 +295414,7 @@ property_value: confidence "0.9166666666666665" xsd:double id: MONDO:0014339 name: autosomal recessive spinocerebellar ataxia 16 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17689"} subset: ordo_disease {source="Orphanet:412057"} synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057] @@ -286786,6 +295426,7 @@ synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768] synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080029 {source="MONDO:equivalentTo"} +xref: GARD:17689 {source="Orphanet:412057"} xref: ICD10CM:G11.1 {source="Orphanet:412057/attributed", source="Orphanet:412057/ntbt", source="Orphanet:412057"} xref: OMIM:615768 {source="Orphanet:412057/e", source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057"} xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"} @@ -286800,12 +295441,14 @@ property_value: confidence "12.4375" xsd:double id: MONDO:0014340 name: atrial fibrillation, familial, 15 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16010"} synonym: "ATFB15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615770] synonym: "atrial fibrillation 15" EXACT [OMIM:615770, OMIM:genemap2] synonym: "atrial fibrillation, familial, 15" EXACT [MONDO:Lexical, OMIM:615770] synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2, OMIM:615770] synonym: "familial atrial fibrillation caused by mutation in NUP155" EXACT [MONDO:design_pattern] synonym: "NUP155 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16010 {source="OMIM:615770"} xref: OMIM:615770 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:615770"} xref: UMLS:C4014269 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286840,11 +295483,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014342 name: female infertility due to zona pellucida defect def: "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." [Orphanet:404466] +subset: gard_rare {source="GARD:17675"} subset: ordo_disease {source="Orphanet:404466"} synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774] synonym: "oocyte maturation defect 1" RELATED [OMIM:615774] synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615774] synonym: "OOMD1" RELATED ABBREVIATION [OMIM:615774] +xref: GARD:17675 {source="Orphanet:404466"} xref: ICD10CM:N97.8 {source="Orphanet:404466/attributed", source="Orphanet:404466/ntbt", source="Orphanet:404466"} xref: OMIM:615774 {source="Orphanet:404466/e", source="MONDO:equivalentTo", source="Orphanet:404466"} xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"} @@ -286858,12 +295503,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014343 name: Desbuquois dysplasia 2 def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16466"} synonym: "Baratela-Scott syndrome" EXACT [MONDO:0010470, OMIM:300881] synonym: "DBQD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern] synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777] synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16466 {source="OMIM:615777"} xref: OMIM:615777 {source="MONDO:equivalentTo"} xref: Orphanet:1425 {source="OMIM:615777"} xref: UMLS:C3550876 {source="MONDO:equivalentObsolete", source="OMIM:300881", source="MONDO:ncbi_mim2gene_medline"} @@ -286900,12 +295547,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014345 name: retinitis pigmentosa 69 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16011"} synonym: "KIZ retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 69" EXACT [MONDO:Lexical, OMIM:615780] synonym: "retinitis pigmentosa caused by mutation in KIZ" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 69" EXACT [DOID:0110410, MONDORULE:2, OMIM:615780] synonym: "RP69" EXACT ABBREVIATION [DOID:0110410, MONDO:Lexical, OMIM:615780] xref: DOID:0110410 {source="MONDO:equivalentTo"} +xref: GARD:16011 {source="OMIM:615780"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110410"} xref: OMIM:615780 {source="MONDO:equivalentTo", source="DOID:0110410"} xref: UMLS:C4014312 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286917,11 +295566,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014346 name: white sponge nevus 2 +subset: gard_rare {source="GARD:16012"} synonym: "WHITE sponge NEVUS 2" RELATED [OMIM:615785] synonym: "white sponge nevus 2" EXACT [MONDO:Lexical, OMIM:615785] synonym: "White sponge Nevus type 2" EXACT [MONDORULE:1, OMIM:615785] synonym: "WSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615785] xref: DOID:0081288 {source="MONDO:equivalentTo"} +xref: GARD:16012 {source="OMIM:615785"} xref: OMIM:615785 {source="MONDO:equivalentTo"} xref: Orphanet:171723 {source="OMIM:615785"} xref: UMLS:C4014321 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -286944,6 +295595,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014348 name: intellectual disability, autosomal recessive 42 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22564"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" EXACT [MONDO:design_pattern] synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [OMIM:615802] synonym: "intellectual disability, autosomal recessive 42" EXACT [MONDO:Lexical, OMIM:615802] @@ -286953,6 +295605,7 @@ synonym: "mental retardation, autosomal recessive type 42" EXACT DEPRECATED [MON synonym: "MRT42" RELATED DEPRECATED [MONDO:Lexical, OMIM:615802] synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT [OMIM:615802, OMIM:genemap2] synonym: "PGAP1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:22564 {source="OMIM:615802"} xref: OMIM:615802 {source="MONDO:equivalentTo"} xref: UMLS:C4014343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:615802", source="MONDO:Redundant", source="OMIM:615802"} ! autosomal recessive non-syndromic intellectual disability @@ -286966,6 +295619,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014349 name: pontocerebellar hypoplasia type 10 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17680"} subset: ordo_malformation_syndrome {source="Orphanet:411493"} synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493] @@ -286973,6 +295627,7 @@ synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" E synonym: "PCH10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615803, Orphanet:411493] synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803] xref: DOID:0060279 {source="MONDO:equivalentTo"} +xref: GARD:17680 {source="Orphanet:411493"} xref: ICD10CM:Q04.3 {source="Orphanet:411493/attributed", source="Orphanet:411493/ntbt", source="Orphanet:411493"} xref: OMIM:615803 {source="Orphanet:411493/e", source="DOID:0060279", source="MONDO:equivalentTo", source="Orphanet:411493"} xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", source="OMIM:615803"} @@ -286987,12 +295642,14 @@ property_value: confidence "229.0000000000029" xsd:double id: MONDO:0014350 name: Seckel syndrome 8 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16013"} synonym: "DNA2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL8" EXACT ABBREVIATION [DOID:0070009, MONDO:Lexical, OMIM:615807] synonym: "Seckel syndrome 8" EXACT [MONDO:Lexical, OMIM:615807] synonym: "Seckel syndrome caused by mutation in DNA2" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1, OMIM:615807] xref: DOID:0070009 {source="MONDO:equivalentTo"} +xref: GARD:16013 {source="OMIM:615807"} xref: OMIM:615807 {source="MONDO:equivalentTo", source="DOID:0070009"} xref: Orphanet:808 {source="OMIM:615807"} xref: UMLS:C3891452 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287009,12 +295666,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014351 name: pontocerebellar hypoplasia type 9 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17590"} subset: ordo_malformation_syndrome {source="Orphanet:369920"} synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "PCH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615809, Orphanet:369920] synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809] xref: DOID:0060278 {source="MONDO:equivalentTo"} +xref: GARD:17590 {source="Orphanet:369920"} xref: ICD10CM:Q04.3 {source="Orphanet:369920", source="Orphanet:369920/attributed", source="Orphanet:369920/ntbt", source="DOID:0060278"} xref: OMIM:615809 {source="Orphanet:369920", source="DOID:0060278", source="MONDO:equivalentTo", source="Orphanet:369920/e"} xref: Orphanet:369920 {source="DOID:0060278", source="MONDO:equivalentTo", source="OMIM:615809"} @@ -287048,6 +295707,7 @@ property_value: confidence "6.407407407407407" xsd:double [Term] id: MONDO:0014353 name: immunodeficiency 23 +subset: gard_rare {source="GARD:4331"} subset: ordo_disease {source="Orphanet:443811"} synonym: "CID due to PGM3 deficiency" EXACT [Orphanet:443811] synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [Orphanet:443811] @@ -287062,6 +295722,7 @@ synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [Orphanet:44381 synonym: "phosphoglucomutase 3 deficiency" EXACT [GARD:0004331] synonym: "phosphoglucomutase deficiency type 3" EXACT [GARD:0004331] xref: DOID:0111953 {source="MONDO:equivalentTo"} +xref: GARD:4331 {source="Orphanet:443811"} xref: ICD10CM:E77.8 {source="Orphanet:443811", source="Orphanet:443811/attributed", source="Orphanet:443811/ntbt"} xref: MESH:C565684 {source="MONDO:equivalentTo"} xref: OMIM:216920 {source="MONDO:equivalentObsolete"} @@ -287079,6 +295740,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014354 name: intellectual disability, autosomal recessive 43 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22565"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" EXACT [MONDO:design_pattern] synonym: "intellectual developmental disorder, autosomal recessive 43" EXACT [OMIM:615817, OMIM:genemap2] synonym: "intellectual disability, autosomal recessive 43" EXACT [MONDO:Lexical, OMIM:615817] @@ -287088,6 +295750,7 @@ synonym: "mental retardation, autosomal recessive type 43" EXACT DEPRECATED [MON synonym: "MRT43" RELATED DEPRECATED [MONDO:Lexical, OMIM:615817] synonym: "WASHC4 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081207 {source="MONDO:equivalentTo"} +xref: GARD:22565 {source="OMIM:615817"} xref: OMIM:615817 {source="MONDO:equivalentTo"} xref: UMLS:C4014386 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:615817", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability @@ -287100,10 +295763,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014355 name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +subset: gard_rare {source="GARD:16014"} synonym: "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical, OMIM:615821] synonym: "DCWHKTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615821] synonym: "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" EXACT OMO:0003005 [] synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" EXACT [OMIM:615821, OMIM:genemap2] +xref: GARD:16014 {source="OMIM:615821"} xref: OMIM:615821 {source="MONDO:equivalentTo"} xref: Orphanet:65282 {source="OMIM:615821"} xref: UMLS:C4014393 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287116,12 +295781,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014356 name: mitochondrial complex III deficiency nuclear type 7 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16015"} synonym: "MC3DN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615824] synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [OMIM:615824] synonym: "mitochondrial complex III deficiency caused by mutation in UQCC2" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical, OMIM:615824] synonym: "UQCC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080116 {source="MONDO:equivalentTo"} +xref: GARD:16015 {source="OMIM:615824"} xref: OMIM:615824 {source="MONDO:equivalentTo", source="DOID:0080116"} xref: Orphanet:1460 {source="OMIM:615824"} xref: UMLS:C4014408 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287137,6 +295804,7 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014357 name: intellectual disability, autosomal dominant 24 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16467"} synonym: "autosomal dominant intellectual disability 24" EXACT [DOID:0070054] synonym: "autosomal dominant mental retardation 24" EXACT DEPRECATED [DOID:0070054] synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [DOID:0070054] @@ -287149,6 +295817,7 @@ synonym: "mental retardation, autosomal dominant type 24" EXACT DEPRECATED [MOND synonym: "MRD24" EXACT ABBREVIATION [DOID:0070054, MONDO:Lexical, OMIM:615828] synonym: "Vulto-van Silfout-de Vries syndrome" EXACT [OMIM:615828, OMIM:genemap2] xref: DOID:0070054 {source="MONDO:equivalentTo"} +xref: GARD:16467 {source="OMIM:615828"} xref: OMIM:615828 {source="DOID:0070054", source="MONDO:equivalentTo"} xref: UMLS:C4014414 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:615828"} ! intellectual disability, autosomal dominant @@ -287162,6 +295831,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014358 name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +subset: gard_rare {source="GARD:13409"} subset: ordo_malformation_syndrome {source="Orphanet:412069"} synonym: "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" EXACT CLINGEN_PREFERRED [] synonym: "autosomal dominant intellectual disability 25" EXACT [DOID:0070055] @@ -287172,6 +295842,7 @@ synonym: "MRD25" EXACT ABBREVIATION [DOID:0070055] synonym: "Xia-Gibbs syndrome" EXACT [OMIM:615829, Orphanet:412069] xref: DOID:0070055 {source="MONDO:equivalentTo"} xref: EFO:0009015 {source="MONDO:equivalentTo"} +xref: GARD:13409 {source="Orphanet:412069"} xref: ICD10CM:Q87.8 {source="Orphanet:412069", source="Orphanet:412069/attributed", source="Orphanet:412069/ntbt"} xref: OMIM:615829 {source="Orphanet:412069", source="DOID:0070055", source="MONDO:equivalentTo", source="Orphanet:412069/e"} xref: Orphanet:412069 {source="MONDO:equivalentTo", source="OMIM:615829"} @@ -287188,6 +295859,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014359 name: pigmented nodular adrenocortical disease, primary, 4 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16016"} synonym: "ACTH-independent adrenal Cushing syndrome, somatic" RELATED [OMIM:615830] synonym: "chromosome 19P13 Duplication syndrome" RELATED [OMIM:615830] synonym: "Cushing syndrome, ACTH-independent adrenal, somatic" EXACT [OMIM:615830, OMIM:genemap2] @@ -287197,6 +295869,7 @@ synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MOND synonym: "PPNAD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615830] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" EXACT [MONDO:design_pattern] synonym: "PRKACA primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16016 {source="OMIM:615830"} xref: OMIM:615830 {source="MONDO:equivalentTo"} xref: Orphanet:423668 {source="OMIM:615830"} xref: UMLS:C4014425 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287211,6 +295884,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014360 name: developmental and epileptic encephalopathy, 21 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16017"} synonym: "DEE21" EXACT ABBREVIATION [OMIM:615833] synonym: "developmental and epileptic encephalopathy 21" EXACT [OMIM:615833, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern] @@ -287219,6 +295893,7 @@ synonym: "epileptic encephalopathy, early infantile, 21" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2, OMIM:615833] synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080443 {source="MONDO:equivalentTo"} +xref: GARD:16017 {source="OMIM:615833"} xref: OMIM:615833 {source="MONDO:equivalentTo"} xref: UMLS:C4014430 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -287233,6 +295908,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014361 name: autism spectrum disorder due to AUTS2 deficiency def: "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." [Orphanet:352490] +subset: gard_rare {source="GARD:17520"} subset: ordo_disease {source="Orphanet:352490"} synonym: "ASD due to AUTS2 deficiency" EXACT [Orphanet:352490] synonym: "autism spectrum disorder due to AUTS2 deficiency" EXACT CLINGEN_PREFERRED [] @@ -287245,6 +295921,7 @@ synonym: "mental retardation, autosomal dominant 26" EXACT DEPRECATED [MONDO:Lex synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2, OMIM:615834] synonym: "MRD26" EXACT DEPRECATED [DOID:0070056, MONDO:Lexical, OMIM:615834] xref: DOID:0070056 {source="MONDO:equivalentTo"} +xref: GARD:17520 {source="Orphanet:352490"} xref: OMIM:615834 {source="DOID:0070056", source="Orphanet:352490/e", source="MONDO:equivalentTo", source="Orphanet:352490"} xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"} xref: UMLS:C4014435 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287273,6 +295950,7 @@ intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (H id: MONDO:0014363 name: autosomal recessive nonsyndromic hearing loss 101 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22651"} synonym: "autosomal recessive deafness 101" NARROW [DOID:0110462] synonym: "autosomal recessive nonsyndromic deafness 101" NARROW [OMIM:615837] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" NARROW [MONDO:design_pattern] @@ -287282,6 +295960,7 @@ synonym: "deafness, autosomal recessive type 101" NARROW [MONDORULE:2, OMIM:6158 synonym: "DFNB101" NARROW ABBREVIATION [DOID:0110462, MONDO:Lexical, OMIM:615837] synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110462 {source="MONDO:equivalentTo"} +xref: GARD:22651 {source="OMIM:615837"} xref: ICD10CM:H90.3 {source="DOID:0110462"} xref: OMIM:615837 {source="MONDO:equivalentTo", source="DOID:0110462"} xref: Orphanet:90636 {source="OMIM:615837"} @@ -287297,6 +295976,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014364 name: mitochondrial complex III deficiency nuclear type 8 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16018"} synonym: "LYRM7 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MC3DN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615838] synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [OMIM:615838] @@ -287304,6 +295984,7 @@ synonym: "mitochondrial complex III deficiency caused by mutation in LYRM7" EXAC synonym: "mitochondrial complex III deficiency nuclear type 8" EXACT CLINGEN_PREFERRED [] synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical, OMIM:615838] xref: DOID:0080117 {source="MONDO:equivalentTo"} +xref: GARD:16018 {source="OMIM:615838"} xref: OMIM:615838 {source="MONDO:equivalentTo", source="DOID:0080117"} xref: Orphanet:1460 {source="OMIM:615838"} xref: UMLS:C4014440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287319,12 +296000,14 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014365 name: spermatogenic failure 13 def: "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16019"} synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841] synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841] synonym: "SPGF13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615841] synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070182 {source="MONDO:equivalentTo"} +xref: GARD:16019 {source="OMIM:615841"} xref: OMIM:615841 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615841"} xref: UMLS:C4014449 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287340,12 +296023,14 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014366 name: spermatogenic failure 14 def: "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16020"} synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 14" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615842] synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842] synonym: "SPGF14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615842] synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070179 {source="MONDO:equivalentTo"} +xref: GARD:16020 {source="OMIM:615842"} xref: OMIM:615842 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615842"} xref: UMLS:C4014454 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287361,11 +296046,13 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014367 name: Aicardi-Goutieres syndrome 7 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16021"} synonym: "AGS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846] synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16021 {source="OMIM:615846"} xref: NCIT:C168585 {source="MONDO:equivalentTo"} xref: OMIM:615846 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:615846"} @@ -287379,11 +296066,13 @@ property_value: confidence "0.5" xsd:double [Term] id: MONDO:0014368 name: melanoma, cutaneous malignant, susceptibility to, 10 +subset: gard_rare {source="GARD:18582"} subset: predisposition synonym: "CMM10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615848] synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848] synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848] synonym: "susceptibility to cutaneous malignant melanoma 10" RELATED [OMIM:615848] +xref: GARD:18582 {source="OMIM:615848"} xref: OMIM:615848 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:615848"} xref: UMLS:C4014476 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -287401,12 +296090,14 @@ property_value: confidence "1.6325000000000003" xsd:double id: MONDO:0014369 name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome def: "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." [Orphanet:420584] +subset: gard_rare {source="GARD:13349"} subset: ordo_malformation_syndrome {source="Orphanet:420584"} synonym: "CJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615849] synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical, OMIM:615849] synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849] synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849] xref: DOID:0080328 {source="MONDO:equivalentTo"} +xref: GARD:13349 {source="Orphanet:420584"} xref: ICD10CM:Q87.8 {source="Orphanet:420584", source="Orphanet:420584/attributed", source="Orphanet:420584/ntbt"} xref: OMIM:615849 {source="Orphanet:420584", source="MONDO:equivalentTo", source="Orphanet:420584/e", source="DOID:0080328"} xref: Orphanet:420584 {source="MONDO:equivalentTo", source="OMIM:615849"} @@ -287424,12 +296115,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014370 name: pontocerebellar hypoplasia type 2E def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18348"} synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" EXACT [MONDO:design_pattern] synonym: "PCH2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615851] synonym: "pontocerebellar hypoplasia type 2E" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical, OMIM:615851] synonym: "VPS53 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060271 {source="MONDO:equivalentTo"} +xref: GARD:18348 {source="OMIM:615851"} xref: OMIM:615851 {source="MONDO:equivalentTo", source="DOID:0060271"} xref: Orphanet:247198 {source="OMIM:615851"} xref: UMLS:C4014488 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287442,6 +296135,7 @@ property_value: confidence "28.000000000000046" xsd:double [Term] id: MONDO:0014371 name: developmental and epileptic encephalopathy, 23 +subset: gard_rare {source="GARD:17687"} subset: ordo_malformation_syndrome {source="Orphanet:411986"} synonym: "developmental and epileptic encephalopathy 23" EXACT [OMIM:615859, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy, 23" EXACT CLINGEN_PREFERRED [] @@ -287451,6 +296145,7 @@ synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism synonym: "epileptic encephalopathy, early infantile, 23" EXACT [MONDO:Lexical, OMIM:615859] synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2, OMIM:615859] xref: DOID:0080415 {source="MONDO:equivalentTo"} +xref: GARD:17687 {source="Orphanet:411986"} xref: ICD10CM:G40.4 {source="Orphanet:411986/attributed", source="Orphanet:411986/ntbt", source="Orphanet:411986"} xref: OMIM:615859 {source="Orphanet:411986", source="MONDO:equivalentTo", source="Orphanet:411986/e"} xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"} @@ -287471,12 +296166,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 id: MONDO:0014372 name: cone-rod dystrophy 19 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16022"} synonym: "cone-rod dystrophy 19" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615860] synonym: "cone-rod dystrophy caused by mutation in TTLL5" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 19" EXACT [DOID:0111025, MONDORULE:2, OMIM:615860] synonym: "CORD19" EXACT ABBREVIATION [DOID:0111025, MONDO:Lexical, OMIM:615860] synonym: "TTLL5 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111025 {source="MONDO:equivalentTo"} +xref: GARD:16022 {source="OMIM:615860"} xref: OMIM:615860 {source="MONDO:equivalentTo", source="DOID:0111025"} xref: UMLS:C4014501 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy @@ -287528,6 +296225,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014375 name: congenital diarrhea 7 with exudative enteropathy def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." [Orphanet:329242] +subset: gard_rare {source="GARD:17500"} subset: ordo_disease {source="Orphanet:329242"} synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778] @@ -287545,6 +296243,7 @@ synonym: "diarrhoea 7" RELATED OMO:0003005 [] synonym: "diarrhoea 7, protein-losing enteropathy type" EXACT OMO:0003005 [] synonym: "diarrhoea type 7" EXACT OMO:0003005 [] xref: DOID:0060778 {source="MONDO:equivalentTo"} +xref: GARD:17500 {source="Orphanet:329242"} xref: ICD10CM:P78.3 {source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/attributed", source="Orphanet:329242/ntbt"} xref: OMIM:615863 {source="MONDO:equivalentTo", source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/e"} xref: Orphanet:329242 {source="OMIM:615863", source="MONDO:equivalentTo", source="DOID:0060778"} @@ -287562,6 +296261,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014376 name: intellectual disability, autosomal dominant 27 +subset: gard_rare {source="GARD:16023"} synonym: "autosomal dominant intellectual disability 27" EXACT [DOID:0070057] synonym: "autosomal dominant mental retardation 27" EXACT DEPRECATED [DOID:0070057] synonym: "autosomal dominant non-syndromic intellectual disability 27" RELATED [DOID:0070057] @@ -287573,6 +296273,7 @@ synonym: "mental retardation, autosomal dominant 27" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:615866] synonym: "MRD27" EXACT ABBREVIATION [DOID:0070057, MONDO:Lexical, OMIM:615866] xref: DOID:0070057 {source="MONDO:equivalentTo"} +xref: GARD:16023 {source="OMIM:615866"} xref: OMIM:615866 {source="DOID:0070057", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:615866"} xref: UMLS:C4014528 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287586,6 +296287,7 @@ property_value: confidence "1.258011707790705" xsd:double id: MONDO:0014377 name: developmental and epileptic encephalopathy, 24 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16024"} synonym: "DEE24" EXACT ABBREVIATION [OMIM:615871] synonym: "developmental and epileptic encephalopathy 24" EXACT [OMIM:615871, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern] @@ -287594,6 +296296,7 @@ synonym: "epileptic encephalopathy, early infantile, 24" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2, OMIM:615871] synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080429 {source="MONDO:equivalentTo"} +xref: GARD:16024 {source="OMIM:615871"} xref: OMIM:615871 {source="MONDO:equivalentTo"} xref: UMLS:C4014531 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -287608,6 +296311,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014378 name: primary ciliary dyskinesia 29 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16025"} synonym: "CCNO primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD29" EXACT ABBREVIATION [DOID:0110600, MONDO:Lexical, OMIM:615872] synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical, OMIM:615872] @@ -287617,6 +296321,7 @@ synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [DOID:0110 synonym: "primary ciliary dyskinesia caused by mutation in CCNO" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 29" EXACT [DOID:0110600, MONDORULE:2] xref: DOID:0110600 {source="MONDO:equivalentTo"} +xref: GARD:16025 {source="OMIM:615872"} xref: ICD10CM:Q34.8 {source="DOID:0110600"} xref: NCIT:C172393 {source="MONDO:equivalentTo"} xref: OMIM:615872 {source="DOID:0110600", source="MONDO:equivalentTo"} @@ -287631,6 +296336,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014379 name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." [DOID:0070058] +subset: gard_rare {source="GARD:12931"} subset: ordo_malformation_syndrome {source="Orphanet:404448"} synonym: "ADNP syndrome" RELATED [GARD:0012931] synonym: "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" EXACT CLINGEN_PREFERRED [] @@ -287642,6 +296348,7 @@ synonym: "intellectual disability, autosomal dominant 28" RELATED [OMIM:615873] synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [OMIM:615873] synonym: "MRD28" EXACT ABBREVIATION [DOID:0070058] xref: DOID:0070058 {source="MONDO:equivalentTo"} +xref: GARD:12931 {source="Orphanet:404448"} xref: ICD10CM:Q87.0 {source="Orphanet:404448/attributed", source="Orphanet:404448/ntbt", source="Orphanet:404448"} xref: OMIM:615873 {source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo", source="Orphanet:404448/e"} xref: Orphanet:404448 {source="OMIM:615873", source="MONDO:equivalentTo"} @@ -287659,6 +296366,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014380 name: colobomatous microphthalmia-rhizomelic dysplasia syndrome def: "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." [Orphanet:424099] +subset: gard_rare {source="GARD:17707"} subset: ordo_malformation_syndrome {source="Orphanet:424099"} synonym: "MCOPS14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615877] synonym: "MCSKS" RELATED ABBREVIATION [OMIM:615877] @@ -287669,6 +296377,7 @@ synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2, OMIM:615877] synonym: "microphthalmia-coloboma-rhizomelic skeletal dysplasia" EXACT [Orphanet:424099] synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [OMIM:615877] xref: DOID:0111802 {source="MONDO:equivalentTo"} +xref: GARD:17707 {source="Orphanet:424099"} xref: ICD10CM:Q87.5 {source="Orphanet:424099/attributed", source="Orphanet:424099/ntbt", source="Orphanet:424099"} xref: OMIM:615877 {source="Orphanet:424099/e", source="MONDO:equivalentTo", source="Orphanet:424099"} xref: Orphanet:424099 {source="MONDO:equivalentTo"} @@ -287684,6 +296393,7 @@ id: MONDO:0014381 name: cholestasis, progressive familial intrahepatic, 4 alt_id: MONDO:0018803 def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18621", source="GARD:9803"} subset: ordo_clinical_subtype {source="Orphanet:480483"} synonym: "cholestasis, progressive familial intrahepatic 4" RELATED [GARD:0009803] synonym: "cholestasis, progressive familial intrahepatic, 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615878] @@ -287695,6 +296405,8 @@ synonym: "progressive familial intrahepatic cholestasis type 4" EXACT [] synonym: "TJP2 deficit" EXACT [Orphanet:480483] synonym: "TJP2 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070224 {source="MONDO:equivalentTo"} +xref: GARD:18621 {source="OMIM:615878"} +xref: GARD:9803 {source="Orphanet:480483"} xref: OMIM:615878 {source="MONDO:equivalentTo", source="DOID:0070224"} xref: Orphanet:172 {source="OMIM:615878"} xref: Orphanet:480483 {source="MONDO:equivalentTo", source="DOID:0070224"} @@ -287711,6 +296423,7 @@ property_value: confidence "0.16666666666666674" xsd:double id: MONDO:0014382 name: Tatton-Brown-Rahman overgrowth syndrome def: "A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures." [Orphanet:404443] +subset: gard_rare {source="GARD:17674"} subset: ordo_malformation_syndrome {source="Orphanet:404443"} synonym: "DNMT3A-related overgrowth syndrome" EXACT [Orphanet:404443] synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:404443] @@ -287718,6 +296431,7 @@ synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT CLINGEN_PREFERRED [Orph synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879] synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615879] xref: DOID:0112339 {source="MONDO:equivalentTo"} +xref: GARD:17674 {source="Orphanet:404443"} xref: ICD10CM:Q87.3 {source="Orphanet:404443/attributed", source="Orphanet:404443/ntbt", source="Orphanet:404443"} xref: OMIM:615879 {source="Orphanet:404443/e", source="MONDO:equivalentTo", source="Orphanet:404443"} xref: Orphanet:404443 {source="MONDO:equivalentTo", source="OMIM:615879"} @@ -287738,12 +296452,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014383 name: myopathy, tubular aggregate, 2 def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16026"} synonym: "myopathy, tubular aggregate, 2" EXACT [MONDO:Lexical, OMIM:615883] synonym: "myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1, OMIM:615883] synonym: "ORAI1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TAM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615883] synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:design_pattern] xref: DOID:0080686 {source="MONDO:equivalentTo"} +xref: GARD:16026 {source="OMIM:615883"} xref: OMIM:615883 {source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="OMIM:615883"} xref: UMLS:C4014557 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287757,6 +296473,7 @@ property_value: confidence "2.4105263157894736" xsd:double id: MONDO:0014384 name: hypotrichosis 12 def: "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16027"} synonym: "hypotrichosis 12" EXACT [MONDO:Lexical, OMIM:615885] synonym: "hypotrichosis caused by mutation in RPL21" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 12" EXACT [DOID:0110709, MONDORULE:2, OMIM:615885] @@ -287764,6 +296481,7 @@ synonym: "HYPT12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615885] synonym: "hypt12" EXACT [DOID:0110709] synonym: "RPL21 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110709 {source="MONDO:equivalentTo"} +xref: GARD:16027 {source="OMIM:615885"} xref: OMIM:615885 {source="MONDO:equivalentTo", source="DOID:0110709"} xref: Orphanet:55654 {source="OMIM:615885"} xref: UMLS:C4014563 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287778,6 +296496,7 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0014385 name: amelogenesis imperfecta hypomaturation type 2A5 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16028"} synonym: "AI2A5" EXACT ABBREVIATION [DOID:0110063, MONDO:Lexical, OMIM:615887] synonym: "amelogenesis imperfecta caused by mutation in SLC24A4" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [DOID:0110063] @@ -287786,6 +296505,7 @@ synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lex synonym: "amelogenesis imperfecta, type IIA5" EXACT [OMIM:615887, OMIM:genemap2] synonym: "SLC24A4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110063 {source="MONDO:equivalentTo"} +xref: GARD:16028 {source="OMIM:615887"} xref: ICD10CM:K00.5 {source="DOID:0110063"} xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"} xref: Orphanet:100033 {source="OMIM:615887"} @@ -287803,6 +296523,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014386 name: platelet-type bleeding disorder 18 def: "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." [Orphanet:420566] +subset: gard_rare {source="GARD:17695"} subset: ordo_disease {source="Orphanet:420566"} synonym: "BDPLT18" EXACT ABBREVIATION [DOID:0111051, MONDO:Lexical, OMIM:615888] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [DOID:0111051, Orphanet:420566] @@ -287812,6 +296533,7 @@ synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGR synonym: "platelet-type bleeding disorder 18" EXACT CLINGEN_PREFERRED [] synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111051 {source="MONDO:equivalentTo"} +xref: GARD:17695 {source="Orphanet:420566"} xref: ICD10CM:D69.1 {source="Orphanet:420566/attributed", source="Orphanet:420566/ntbt", source="Orphanet:420566", source="DOID:0111051"} xref: OMIM:615888 {source="Orphanet:420566", source="MONDO:equivalentTo", source="DOID:0111051", source="Orphanet:420566/e"} xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"} @@ -287826,8 +296548,10 @@ property_value: confidence "13.769230769230768" xsd:double [Term] id: MONDO:0014387 name: leukoencephalopathy, progressive, with ovarian failure +subset: gard_rare {source="GARD:18252"} synonym: "leukoencephalopathy, progressive, with ovarian failure" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615889] synonym: "LKENP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615889] +xref: GARD:18252 {source="OMIM:615889"} xref: OMIM:615889 {source="MONDO:equivalentTo"} xref: UMLS:C4014588 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -287842,10 +296566,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014388 name: familial median cleft of the upper and lower lips def: "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." [Orphanet:401942] +subset: gard_rare {source="GARD:17663"} subset: ordo_malformation_syndrome {source="Orphanet:401942"} synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615892] synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892] xref: DOID:0080407 {source="MONDO:equivalentTo"} +xref: GARD:17663 {source="Orphanet:401942"} xref: ICD10CM:Q36.1 {source="Orphanet:401942/attributed", source="Orphanet:401942/ntbt", source="Orphanet:401942"} xref: OMIM:615892 {source="Orphanet:401942", source="MONDO:equivalentTo", source="Orphanet:401942/e"} xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"} @@ -287859,11 +296585,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014389 name: polyglucosan body myopathy 1 with or without immunodeficiency def: "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." [Orphanet:397937] +subset: gard_rare {source="GARD:17643"} subset: ordo_disease {source="Orphanet:397937"} synonym: "PGBM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615895, Orphanet:397937] synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895] synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348] synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" EXACT [OMIM:615895] +xref: GARD:17643 {source="Orphanet:397937"} xref: ICD10CM:E74.0 {source="Orphanet:397937/attributed", source="Orphanet:397937/ntbt", source="Orphanet:397937"} xref: OMIM:615895 {source="MONDO:equivalentTo", source="Orphanet:397937/ntbt", source="Orphanet:397937"} xref: Orphanet:329173 {source="OMIM:615895", source="MONDO:relatedTo"} @@ -287882,6 +296610,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014390 name: hypotrichosis 13 def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16029"} synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896] synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896] @@ -287891,6 +296620,7 @@ synonym: "HYPT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615896] synonym: "hypt13" EXACT [DOID:0110710] synonym: "KRT71 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110710 {source="MONDO:equivalentTo"} +xref: GARD:16029 {source="OMIM:615896"} xref: OMIM:615896 {source="DOID:0110710", source="MONDO:equivalentTo"} xref: Orphanet:170 {source="OMIM:615896"} xref: UMLS:C4014616 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287905,12 +296635,14 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0014391 name: severe combined immunodeficiency due to CTPS1 deficiency def: "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." [Orphanet:420573] +subset: gard_rare {source="GARD:17696"} subset: ordo_disease {source="Orphanet:420573"} synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897] synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573] xref: DOID:0111938 {source="MONDO:equivalentTo"} +xref: GARD:17696 {source="Orphanet:420573"} xref: ICD10CM:D81.2 {source="Orphanet:420573", source="Orphanet:420573/attributed", source="Orphanet:420573/ntbt"} xref: OMIM:615897 {source="Orphanet:420573", source="MONDO:equivalentTo", source="Orphanet:420573/e"} xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"} @@ -287924,7 +296656,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014392 name: developmental and epileptic encephalopathy, 25 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0012901"} +subset: gard_rare {source="GARD:12901"} synonym: "DEE25" EXACT ABBREVIATION [OMIM:615905] synonym: "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" EXACT [OMIM:615905, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy, 25" EXACT CLINGEN_PREFERRED [] @@ -287936,6 +296668,7 @@ synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2 synonym: "SLC13A5 deficiency" RELATED [GARD:0012901] synonym: "SLC13A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080453 {source="MONDO:equivalentTo"} +xref: GARD:12901 {source="OMIM:615905"} xref: OMIM:615905 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="GARD:0012901"} xref: UMLS:C4014621 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287952,12 +296685,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12901/early- id: MONDO:0014393 name: lymphatic malformation 4 def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16468"} synonym: "hereditary lymphedema caused by mutation in VEGFC" EXACT [MONDO:design_pattern] synonym: "LMPH1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615907] synonym: "lymphedema, hereditary, 1D" EXACT [MONDO:Lexical, OMIM:615907] synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4, OMIM:615907] synonym: "VEGFC hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070209 {source="MONDO:equivalentTo"} +xref: GARD:16468 {source="OMIM:615907"} xref: OMIM:615907 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:615907"} xref: UMLS:C4014628 {source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} @@ -287969,6 +296704,7 @@ property_value: confidence "2.599999999999999" xsd:double id: MONDO:0014394 name: Diamond-Blackfan anemia 13 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16030"} synonym: "DBA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615909] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS29" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 13" EXACT OMO:0003005 [] @@ -287978,6 +296714,7 @@ synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909] synonym: "RPS29 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111889 {source="MONDO:equivalentTo"} +xref: GARD:16030 {source="OMIM:615909"} xref: OMIM:615909 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:615909"} xref: UMLS:C4014641 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -287990,10 +296727,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014395 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2 def: "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [DOID:0060214, OMIM:615911, PMID:24934289] +subset: gard_rare {source="GARD:18397"} synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [DOID:0060214, MONDO:Lexical, OMIM:615911] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2" EXACT [MONDORULE:1, OMIM:615911] synonym: "FTDALS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615911] xref: DOID:0060214 {source="MONDO:equivalentTo"} +xref: GARD:18397 {source="OMIM:615911"} xref: OMIM:615911 {source="MONDO:equivalentTo", source="DOID:0060214"} xref: Orphanet:275872 {source="OMIM:615911"} xref: UMLS:C4014648 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288007,6 +296746,7 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0014396 name: dilated cardiomyopathy 1NN def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16031"} synonym: "cardiomyopathy, dilated, 1NN" RELATED [MONDO:Lexical, OMIM:615916] synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9, OMIM:615916] synonym: "CMD1NN" EXACT ABBREVIATION [DOID:0110432, MONDO:Lexical, OMIM:615916] @@ -288014,6 +296754,7 @@ synonym: "dilated cardiomyopathy type 1NN" EXACT [DOID:0110432, MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in RAF1" EXACT [MONDO:design_pattern] synonym: "RAF1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110432 {source="MONDO:equivalentTo"} +xref: GARD:16031 {source="OMIM:615916"} xref: ICD10CM:I42.0 {source="DOID:0110432"} xref: OMIM:615916 {source="MONDO:equivalentTo", source="DOID:0110432"} xref: UMLS:C4014656 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288025,6 +296766,7 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0014397 name: combined oxidative phosphorylation defect type 20 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17699"} subset: ordo_disease {source="Orphanet:420728"} synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917] synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern] @@ -288032,6 +296774,7 @@ synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORUL synonym: "COXPD20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615917, Orphanet:420728] synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111478 {source="MONDO:equivalentTo"} +xref: GARD:17699 {source="Orphanet:420728"} xref: ICD10CM:G31.8 {source="Orphanet:420728/attributed", source="Orphanet:420728/ntbt", source="Orphanet:420728"} xref: OMIM:615917 {source="Orphanet:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"} xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"} @@ -288047,6 +296790,7 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014398 name: combined oxidative phosphorylation defect type 21 def: "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." [Orphanet:420733] +subset: gard_rare {source="GARD:17700"} subset: ordo_disease {source="Orphanet:420733"} synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical, OMIM:615918] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TARS2" EXACT [MONDO:design_pattern] @@ -288055,6 +296799,7 @@ synonym: "COXPD21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615918, Orphanet:4207 synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111465 {source="MONDO:equivalentTo"} xref: EFO:0009032 {source="MONDO:equivalentTo"} +xref: GARD:17700 {source="Orphanet:420733"} xref: ICD10CM:E88.8 {source="Orphanet:420733", source="Orphanet:420733/attributed", source="Orphanet:420733/ntbt"} xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source="Orphanet:420733/e"} xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"} @@ -288070,11 +296815,13 @@ property_value: confidence "2.846153846153847" xsd:double [Term] id: MONDO:0014399 name: ataxia-telangiectasia-like disorder 2 +subset: gard_rare {source="GARD:17736"} subset: ordo_disease {source="Orphanet:438134"} synonym: "ataxia-telangiectasia-like disorder 2" EXACT [MONDO:Lexical, OMIM:615919] synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1, OMIM:615919] synonym: "ATLD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615919] synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [Orphanet:438134] +xref: GARD:17736 {source="Orphanet:438134"} xref: ICD10CM:G11.3 {source="Orphanet:438134", source="Orphanet:438134/attributed", source="Orphanet:438134/ntbt"} xref: OMIM:615919 {source="Orphanet:438134/e", source="MONDO:equivalentTo", source="Orphanet:438134"} xref: Orphanet:438134 {source="MONDO:equivalentTo"} @@ -288096,12 +296843,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014400 name: retinitis pigmentosa 70 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16032"} synonym: "PRPF4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 70" EXACT [MONDO:Lexical, OMIM:615922] synonym: "retinitis pigmentosa caused by mutation in PRPF4" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 70" EXACT [DOID:0110392, MONDORULE:2, OMIM:615922] synonym: "RP70" EXACT ABBREVIATION [DOID:0110392, MONDO:Lexical, OMIM:615922] xref: DOID:0110392 {source="MONDO:equivalentTo"} +xref: GARD:16032 {source="OMIM:615922"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110392"} xref: OMIM:615922 {source="DOID:0110392", source="MONDO:equivalentTo"} xref: UMLS:C4014681 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288114,12 +296863,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014401 name: tall stature-scoliosis-macrodactyly of the great toes syndrome def: "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." [Orphanet:329191] +subset: gard_rare {source="GARD:17495"} subset: ordo_disease {source="Orphanet:329191"} synonym: "ECDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615923] synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM:615923] synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191] xref: DOID:0070316 {source="MONDO:equivalentTo"} +xref: GARD:17495 {source="Orphanet:329191"} xref: OMIM:615923 {source="Orphanet:329191", source="MONDO:equivalentTo", source="Orphanet:329191/e"} xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"} xref: UMLS:C4014690 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288135,10 +296886,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014402 name: severe neurodegenerative syndrome with lipodystrophy +subset: gard_rare {source="GARD:17552"} subset: ordo_disease {source="Orphanet:363400"} synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924] synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615924] synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400] +xref: GARD:17552 {source="Orphanet:363400"} xref: ICD10CM:G31.8 {source="Orphanet:363400", source="Orphanet:363400/attributed", source="Orphanet:363400/ntbt"} xref: OMIM:615924 {source="MONDO:equivalentTo", source="Orphanet:363400", source="Orphanet:363400/e"} xref: Orphanet:363400 {source="MONDO:equivalentTo", source="OMIM:615924"} @@ -288154,11 +296907,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014403 name: short stature due to GHSR deficiency def: "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." [Orphanet:314811] +subset: gard_rare {source="GARD:17436"} subset: ordo_disease {source="Orphanet:314811"} synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615925] synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811] synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925] synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811] +xref: GARD:17436 {source="Orphanet:314811"} xref: ICD10CM:E34.3 {source="Orphanet:314811/attributed", source="Orphanet:314811/ntbt", source="Orphanet:314811"} xref: OMIM:615925 {source="Orphanet:314811", source="MONDO:equivalentTo", source="Orphanet:314811/e"} xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"} @@ -288185,11 +296940,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014405 name: STING-associated vasculopathy with onset in infancy def: "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." [Orphanet:425120] -subset: gard_rare {source="GARD:0012357"} +subset: gard_rare {source="GARD:12357"} subset: ordo_disease {source="Orphanet:425120"} synonym: "SAVI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615934, Orphanet:425120] synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934] xref: DOID:0111457 {source="MONDO:equivalentTo"} +xref: GARD:12357 {source="Orphanet:425120"} xref: ICD10CM:M35.8 {source="Orphanet:425120/attributed", source="Orphanet:425120/ntbt", source="Orphanet:425120"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:615934 {source="Orphanet:425120/e", source="MONDO:equivalentTo", source="Orphanet:425120"} @@ -288210,12 +296966,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12357/sting- id: MONDO:0014406 name: pancreatic agenesis 2 def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:16033"} synonym: "PAGEN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615935] synonym: "pancreatic agenesis 2" EXACT [MONDO:Lexical, OMIM:615935] synonym: "pancreatic agenesis caused by mutation in PTF1A" EXACT [MONDO:design_pattern] synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1, OMIM:615935] synonym: "pancreatic hypoplasia, congenital 2" RELATED [OMIM:615935] synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16033 {source="OMIM:615935"} xref: OMIM:615935 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="OMIM:615935"} xref: UMLS:C4014737 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288229,11 +296987,13 @@ property_value: confidence "2.250000000000001" xsd:double id: MONDO:0014407 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18078"} synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern] synonym: "MPPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615937] +xref: GARD:18078 {source="OMIM:615937"} xref: OMIM:615937 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="OMIM:615937"} xref: UMLS:C4014738 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288247,11 +297007,13 @@ property_value: confidence "2.941120607787275" xsd:double id: MONDO:0014408 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18079"} synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern] synonym: "MPPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615938] +xref: GARD:18079 {source="OMIM:615938"} xref: OMIM:615938 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="OMIM:615938"} xref: UMLS:C4014742 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288265,6 +297027,7 @@ property_value: confidence "2.941120607787275" xsd:double id: MONDO:0014409 name: intellectual disability, autosomal recessive 44 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22566"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 44" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615942] synonym: "intellectual disability, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:615942] @@ -288273,6 +297036,7 @@ synonym: "mental retardation, autosomal recessive type 44" EXACT DEPRECATED [MON synonym: "METTL23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MRT44" RELATED DEPRECATED [MONDO:Lexical, OMIM:615942] xref: DOID:0081208 {source="MONDO:equivalentTo"} +xref: GARD:22566 {source="OMIM:615942"} xref: OMIM:615942 {source="MONDO:equivalentTo"} xref: UMLS:C4014745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:615942", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability @@ -288285,11 +297049,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0014410 name: spinocerebellar ataxia type 37 def: "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements." [Orphanet:363710] +subset: gard_rare {source="GARD:12368"} subset: ordo_disease {source="Orphanet:363710"} synonym: "SCA37" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615945, Orphanet:363710] synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945] synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710] xref: DOID:0050984 {source="MONDO:equivalentTo"} +xref: GARD:12368 {source="Orphanet:363710"} xref: ICD10CM:G11.8 {source="Orphanet:363710", source="Orphanet:363710/attributed", source="Orphanet:363710/ntbt"} xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="Orphanet:363710", source="Orphanet:363710/e"} xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"} @@ -288315,12 +297081,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014412 name: hyperlipoproteinemia, type 1D def: "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17973"} subset: ordo_etiological_subtype synonym: "familial hyperlipidemia caused by mutation in GPIHBP1" EXACT [MONDO:design_pattern] synonym: "GPIHBP1 familial hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hyperlipoproteinemia, type 1D" EXACT CLINGEN_PREFERRED [] synonym: "hyperlipoproteinemia, type ID" RELATED [OMIM:615947] xref: DOID:0111420 {source="MONDO:equivalentTo"} +xref: GARD:17973 {source="Orphanet:535458"} xref: OMIM:615947 {source="Orphanet:535458", source="MONDO:equivalentTo"} xref: Orphanet:411 {source="OMIM:615947"} xref: Orphanet:535458 {source="MONDO:equivalentTo"} @@ -288337,6 +297105,7 @@ property_value: confidence "5.6" xsd:double id: MONDO:0014413 name: orofaciodigital syndrome type 14 def: "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." [Orphanet:434179] +subset: gard_rare {source="GARD:13655"} subset: ordo_malformation_syndrome {source="Orphanet:434179"} synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179] @@ -288346,6 +297115,7 @@ synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948] synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern] synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948] synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948] +xref: GARD:13655 {source="Orphanet:434179"} xref: ICD10CM:Q87.0 {source="Orphanet:434179", source="Orphanet:434179/ntbt", source="Orphanet:434179/inclusion"} xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="Orphanet:434179/e"} xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"} @@ -288365,11 +297135,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014414 name: STAT3-related early-onset multisystem autoimmune disease +subset: gard_rare {source="GARD:17737"} subset: ordo_disease {source="Orphanet:438159"} synonym: "ADMIO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615952] synonym: "ADMIO1" RELATED ABBREVIATION [OMIM:615952] synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:615952] synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [OMIM:615952] +xref: GARD:17737 {source="Orphanet:438159"} xref: ICD10CM:M35.8 {source="Orphanet:438159/attributed", source="Orphanet:438159/ntbt", source="Orphanet:438159"} xref: OMIM:615952 {source="Orphanet:438159/e", source="MONDO:equivalentTo", source="Orphanet:438159"} xref: Orphanet:438159 {source="MONDO:equivalentTo"} @@ -288398,6 +297170,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014416 name: ACTH-independent macronodular adrenal hyperplasia 2 def: "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:16034"} synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [MONDO:Lexical, OMIM:615954] synonym: "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation" EXACT [OMIM:615954, OMIM:genemap2] synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1, OMIM:615954] @@ -288406,6 +297179,7 @@ synonym: "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" EXACT synonym: "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" EXACT [MONDO:design_pattern] synonym: "primary macronodular adrenal hyperplasia" RELATED [OMIM:615954] xref: DOID:0111624 {source="MONDO:equivalentTo"} +xref: GARD:16034 {source="OMIM:615954"} xref: OMIM:615954 {source="MONDO:equivalentTo"} xref: Orphanet:189427 {source="OMIM:615954"} xref: UMLS:C4014803 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288420,12 +297194,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014417 name: spinocerebellar ataxia type 38 def: "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." [Orphanet:423296] +subset: gard_rare {source="GARD:12369"} subset: ordo_disease {source="Orphanet:423296"} synonym: "SCA38" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615957, Orphanet:423296] synonym: "spinocerebellar ataxia 38" RELATED [MONDO:Lexical, OMIM:615957] synonym: "spinocerebellar ataxia type 38" EXACT [MONDORULE:2, OMIM:615957] xref: DOID:0050985 {source="MONDO:equivalentTo"} xref: EFO:0009056 {source="MONDO:equivalentTo"} +xref: GARD:12369 {source="Orphanet:423296"} xref: ICD10CM:G11.8 {source="Orphanet:423296/attributed", source="Orphanet:423296/ntbt", source="Orphanet:423296"} xref: OMIM:615957 {source="Orphanet:423296/e", source="MONDO:equivalentTo", source="DOID:0050985", source="Orphanet:423296"} xref: Orphanet:423296 {source="MONDO:equivalentTo", source="OMIM:615957"} @@ -288441,6 +297217,7 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014418 name: myopathy, centronuclear, 5 def: "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16035"} synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern] synonym: "centronuclear myopathy 5" EXACT [OMIM:615959, OMIM:genemap2] synonym: "CNM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615959] @@ -288448,6 +297225,7 @@ synonym: "myopathy, centronuclear, 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OM synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959] synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111222 {source="MONDO:equivalentTo"} +xref: GARD:16035 {source="OMIM:615959"} xref: OMIM:615959 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="OMIM:615959"} xref: UMLS:C4014814 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288463,11 +297241,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014419 name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome def: "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." [Orphanet:370022] +subset: gard_rare {source="GARD:17597"} subset: ordo_disease {source="Orphanet:370022"} synonym: "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" EXACT CLINGEN_PREFERRED [] synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960] synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022] synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615960] +xref: GARD:17597 {source="Orphanet:370022"} xref: ICD10CM:G11.1 {source="Orphanet:370022", source="Orphanet:370022/attributed", source="Orphanet:370022/ntbt"} xref: OMIM:615960 {source="MONDO:equivalentTo", source="Orphanet:370022", source="Orphanet:370022/e"} xref: Orphanet:370022 {source="OMIM:615960", source="MONDO:equivalentTo"} @@ -288485,10 +297265,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014420 name: short stature due to primary acid-labile subunit deficiency def: "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." [Orphanet:140941] +subset: gard_rare {source="GARD:16964"} subset: ordo_disease {source="Orphanet:140941"} synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961] synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2] synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961] +xref: GARD:16964 {source="Orphanet:140941"} xref: ICD10CM:E34.3 {source="Orphanet:140941", source="Orphanet:140941/attributed", source="Orphanet:140941/ntbt"} xref: OMIM:615961 {source="Orphanet:140941/e", source="MONDO:equivalentTo", source="Orphanet:140941"} xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"} @@ -288503,7 +297285,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014421 name: glucocorticoid resistance comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163|https://orcid.org/0000-0002-2825-0621) -subset: gard_rare {source="GARD:0002499"} +subset: gard_rare {source="GARD:2499"} subset: ordo_disease {source="Orphanet:786"} synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [OMIM:615962] synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615962] @@ -288513,6 +297295,7 @@ synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962] synonym: "glucocorticoid resistance, generalised" RELATED OMO:0003005 [] synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962] synonym: "Grl deficiency" RELATED [OMIM:615962] +xref: GARD:2499 {source="Orphanet:786"} xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"} xref: MESH:C564221 {source="MONDO:equivalentTo"} xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="Orphanet:786/e"} @@ -288529,11 +297312,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2499/glucoco id: MONDO:0014422 name: vesicoureteral reflux 8 def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18425"} synonym: "TNXB vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in TNXB" EXACT [] synonym: "vesicoureteral reflux 8" EXACT [MONDO:Lexical, OMIM:615963] synonym: "vesicoureteral reflux type 8" EXACT [MONDORULE:1, OMIM:615963] synonym: "VUR8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615963] +xref: GARD:18425 {source="OMIM:615963"} xref: OMIM:615963 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="OMIM:615963"} xref: UMLS:C4014831 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288547,12 +297332,14 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0014423 name: severe combined immunodeficiency due to DNA-PKcs deficiency def: "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." [Orphanet:317425] +subset: gard_rare {source="GARD:17441"} subset: ordo_disease {source="Orphanet:317425"} synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [OMIM:615966, OMIM:genemap2] synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425] xref: DOID:0111961 {source="MONDO:equivalentTo"} +xref: GARD:17441 {source="Orphanet:317425"} xref: ICD10CM:D81.1 {source="Orphanet:317425", source="Orphanet:317425/attributed", source="Orphanet:317425/ntbt"} xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="Orphanet:317425/e"} xref: Orphanet:317425 {source="MONDO:equivalentTo", source="OMIM:615966"} @@ -288568,9 +297355,11 @@ id: MONDO:0014424 name: obsolete congenital deficiency in alpha-fetoprotein def: "OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." [Orphanet:168612] comment: This is a biological anomaly and not a disease. +subset: gard_rare {source="GARD:17040"} subset: ordo_biological_anomaly {source="Orphanet:168612"} synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615969] synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969] +xref: GARD:17040 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612"} xref: MESH:C566300 {source="MONDO:obsoleteEquivalent"} xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612", source="Orphanet:168612/e"} xref: Orphanet:168612 {source="MONDO:obsoleteEquivalent", source="OMIM:615969"} @@ -288585,10 +297374,12 @@ id: MONDO:0014425 name: obsolete hereditary persistence of alpha-fetoprotein def: "OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" [Orphanet:168615] comment: This is a biological anomaly and not a disease. +subset: gard_rare {source="GARD:18647"} subset: ordo_biological_anomaly {source="Orphanet:168615"} synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970] synonym: "hereditary persistence of alpha-fetoprotein" EXACT [OMIM:615970, OMIM:genemap2] synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615970] +xref: GARD:18647 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615"} xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="Orphanet:168615/e"} xref: Orphanet:168615 {source="MONDO:obsoleteEquivalent", source="OMIM:615970"} xref: SCTID:716697002 {source="MONDO:obsoleteEquivalent"} @@ -288603,12 +297394,14 @@ is_obsolete: true id: MONDO:0014426 name: nanophthalmos 4 def: "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18629"} synonym: "Nanophthalmia 4" RELATED [OMIM:615972] synonym: "nanophthalmia caused by mutation in TMEM98" EXACT [MONDO:design_pattern] synonym: "nanophthalmos 4" EXACT [MONDO:Lexical, OMIM:615972] synonym: "nanophthalmos type 4" EXACT [MONDORULE:1, OMIM:615972] synonym: "NNO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615972] synonym: "TMEM98 nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18629 {source="OMIM:615972"} xref: OMIM:615972 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:615972"} xref: UMLS:C4014848 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288623,12 +297416,14 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0014427 name: cone-rod dystrophy 20 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16036"} synonym: "cone-rod dystrophy 20" EXACT [MONDO:Lexical, OMIM:615973] synonym: "cone-rod dystrophy caused by mutation in POC1B" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy type 20" EXACT [DOID:0111026, MONDORULE:2, OMIM:615973] synonym: "CORD20" EXACT ABBREVIATION [DOID:0111026, MONDO:Lexical, OMIM:615973] synonym: "POC1B cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111026 {source="MONDO:equivalentTo"} +xref: GARD:16036 {source="OMIM:615973"} xref: OMIM:615973 {source="MONDO:equivalentTo", source="DOID:0111026"} xref: UMLS:C4014856 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy @@ -288640,6 +297435,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014428 name: autosomal recessive nonsyndromic hearing loss 102 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22652"} synonym: "autosomal recessive deafness 102" NARROW [DOID:0110463] synonym: "autosomal recessive nonsyndromic deafness 102" NARROW CLINGEN_PREFERRED [OMIM:615974] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" NARROW [MONDO:design_pattern] @@ -288649,6 +297445,7 @@ synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2, OMIM:6159 synonym: "DFNB102" NARROW ABBREVIATION [DOID:0110463, MONDO:Lexical, OMIM:615974] synonym: "EPS8 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110463 {source="MONDO:equivalentTo"} +xref: GARD:22652 {source="OMIM:615974"} xref: ICD10CM:H90.3 {source="DOID:0110463"} xref: OMIM:615974 {source="MONDO:equivalentTo", source="DOID:0110463"} xref: UMLS:C3892050 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288663,6 +297460,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014429 name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319581] {source="https://orcid.org/0000-0001-5208-3432"} +subset: gard_rare {source="GARD:17461"} subset: ordo_disease {source="Orphanet:319581"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT [] @@ -288677,6 +297475,7 @@ synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [OMIM:615978, OMIM:ge synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" EXACT [OMIM:615978] synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978] xref: DOID:0111956 {source="MONDO:equivalentTo"} +xref: GARD:17461 {source="Orphanet:319581"} xref: ICD10CM:D84.8 {source="Orphanet:319581/attributed", source="Orphanet:319581/ntbt", source="Orphanet:319581"} xref: OMIM:615978 {source="Orphanet:319581", source="MONDO:equivalentTo", source="Orphanet:319581/e"} xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"} @@ -288690,6 +297489,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014430 name: intellectual disability, autosomal recessive 45 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22567"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31" EXACT [MONDO:design_pattern] synonym: "FBXO31 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual disability, autosomal recessive 45" EXACT [MONDO:Lexical, OMIM:615979] @@ -288698,6 +297498,7 @@ synonym: "mental retardation, autosomal recessive 45" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 45" EXACT DEPRECATED [MONDORULE:2, OMIM:615979] synonym: "MRT45" RELATED DEPRECATED [MONDO:Lexical, OMIM:615979] xref: DOID:0081209 {source="MONDO:equivalentTo"} +xref: GARD:22567 {source="OMIM:615979"} xref: OMIM:615979 {source="MONDO:equivalentTo"} xref: UMLS:C4014864 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:615979", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability @@ -288709,7 +297510,7 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0014431 name: LIPE-related familial partial lipodystrophy -subset: gard_rare {source="GARD:0013126"} +subset: gard_rare {source="GARD:13126"} subset: ordo_disease {source="Orphanet:435660"} synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [DOID:0070206] synonym: "familial partial lipodystrophy type 6" RELATED [DOID:0070206] @@ -288718,6 +297519,7 @@ synonym: "LIPE-related FPLD" EXACT [Orphanet:435660] synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [OMIM:615980] synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980] xref: DOID:0070206 {source="MONDO:equivalentTo"} +xref: GARD:13126 {source="Orphanet:435660"} xref: ICD10CM:E88.1 {source="Orphanet:435660/attributed", source="Orphanet:435660/ntbt", source="Orphanet:435660"} xref: OMIM:615980 {source="Orphanet:435660/e", source="MONDO:equivalentTo", source="Orphanet:435660"} xref: Orphanet:435660 {source="MONDO:equivalentTo"} @@ -288732,6 +297534,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13126/lipe-r id: MONDO:0014432 name: Bardet-Biedl syndrome 2 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:821"} synonym: "Bardet-Biedl syndrome" RELATED [GARD:0000821] synonym: "Bardet-Biedl syndrome 2" EXACT [MONDO:Lexical, OMIM:615981] synonym: "Bardet-Biedl syndrome caused by mutation in BBS2" EXACT [MONDO:design_pattern] @@ -288740,6 +297543,7 @@ synonym: "BBS" RELATED ABBREVIATION [GARD:0000821] synonym: "BBS2" EXACT ABBREVIATION [DOID:0110124, GARD:0000821, MONDO:Lexical, OMIM:615981] synonym: "BBS2 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110124 {source="MONDO:equivalentTo"} +xref: GARD:821 {source="OMIM:615981"} xref: ICD10CM:Q87.89 {source="DOID:0110124"} xref: MESH:C537910 {source="MONDO:equivalentTo"} xref: OMIM:615981 {source="MONDO:equivalentTo", source="DOID:0110124"} @@ -288754,12 +297558,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014433 name: Bardet-Biedl syndrome 4 -subset: gard_rare {source="GARD:0000823"} +subset: gard_rare {source="GARD:823"} synonym: "Bardet-Biedl syndrome 4" EXACT [MONDO:Lexical, OMIM:615982] synonym: "Bardet-Biedl syndrome type 4" EXACT [DOID:0110126, MONDORULE:1, OMIM:615982] synonym: "BBS4" EXACT ABBREVIATION [DOID:0110126, MONDO:Lexical, OMIM:615982] xref: DOID:0110126 {source="MONDO:equivalentTo"} xref: EFO:0009024 {source="MONDO:equivalentTo"} +xref: GARD:823 {source="OMIM:615982"} xref: ICD10CM:Q87.89 {source="DOID:0110126"} xref: MESH:C537912 {source="MONDO:equivalentTo"} xref: OMIM:615982 {source="DOID:0110126", source="MONDO:equivalentTo"} @@ -288774,7 +297579,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/823/bardet-b id: MONDO:0014434 name: Bardet-Biedl syndrome 5 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010204"} +subset: gard_rare {source="GARD:10204"} synonym: "Bardet-Biedl syndrome 5" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615983] synonym: "Bardet-Biedl syndrome caused by mutation in BBS5" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 5" EXACT [DOID:0110127, MONDORULE:1, OMIM:615983] @@ -288782,6 +297587,7 @@ synonym: "BBS5" EXACT ABBREVIATION [DOID:0110127, MONDO:Lexical, OMIM:615983] synonym: "BBS5 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110127 {source="MONDO:equivalentTo"} xref: EFO:0009025 {source="MONDO:equivalentTo"} +xref: GARD:10204 {source="OMIM:615983"} xref: ICD10CM:Q87.89 {source="DOID:0110127"} xref: OMIM:615983 {source="DOID:0110127", source="MONDO:equivalentTo"} xref: UMLS:C3892039 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288796,7 +297602,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10204/bardet id: MONDO:0014435 name: Bardet-Biedl syndrome 7 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010206"} +subset: gard_rare {source="GARD:10206"} synonym: "Bardet-Biedl syndrome 7" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615984] synonym: "Bardet-Biedl syndrome caused by mutation in BBS7" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 7" EXACT [DOID:0110129, MONDORULE:1, OMIM:615984] @@ -288804,6 +297610,7 @@ synonym: "BBS7" EXACT ABBREVIATION [DOID:0110129, MONDO:Lexical, OMIM:615984] synonym: "BBS7 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110129 {source="MONDO:equivalentTo"} xref: EFO:0009026 {source="MONDO:equivalentTo"} +xref: GARD:10206 {source="OMIM:615984"} xref: ICD10CM:Q87.89 {source="DOID:0110129"} xref: MESH:C565916 {source="MONDO:equivalentTo"} xref: OMIM:615984 {source="DOID:0110129", source="MONDO:equivalentTo"} @@ -288819,13 +297626,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10206/bardet id: MONDO:0014436 name: Bardet-Biedl syndrome 8 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010207"} +subset: gard_rare {source="GARD:10207"} synonym: "Bardet-Biedl syndrome 8" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615985] synonym: "Bardet-Biedl syndrome caused by mutation in TTC8" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 8" EXACT [DOID:0110130, MONDORULE:1, OMIM:615985] synonym: "BBS8" EXACT ABBREVIATION [DOID:0110130, MONDO:Lexical, OMIM:615985] synonym: "TTC8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110130 {source="MONDO:equivalentTo"} +xref: GARD:10207 {source="OMIM:615985"} xref: ICD10CM:Q87.89 {source="DOID:0110130"} xref: MESH:C565917 {source="MONDO:equivalentTo"} xref: OMIM:615985 {source="MONDO:equivalentTo", source="DOID:0110130"} @@ -288841,7 +297649,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10207/bardet id: MONDO:0014437 name: Bardet-Biedl syndrome 9 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0010208"} +subset: gard_rare {source="GARD:10208"} synonym: "Bardet-Biedl syndrome 9" EXACT [MONDO:Lexical, OMIM:615986] synonym: "Bardet-Biedl syndrome caused by mutation in BBS9" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 9" EXACT [DOID:0110131, MONDORULE:1, OMIM:615986] @@ -288849,6 +297657,7 @@ synonym: "BBS9" EXACT ABBREVIATION [DOID:0110131, MONDO:Lexical, OMIM:615986] synonym: "BBS9 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110131 {source="MONDO:equivalentTo"} xref: EFO:0009027 {source="MONDO:equivalentTo"} +xref: GARD:10208 {source="OMIM:615986"} xref: ICD10CM:Q87.89 {source="DOID:0110131"} xref: MESH:C565918 {source="MONDO:equivalentTo"} xref: OMIM:615986 {source="MONDO:equivalentTo", source="DOID:0110131"} @@ -288864,6 +297673,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10208/bardet id: MONDO:0014438 name: Bardet-Biedl syndrome 10 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10209"} synonym: "Bardet-Biedl syndrome 10" EXACT [MONDO:Lexical, OMIM:615987] synonym: "Bardet-Biedl syndrome caused by mutation in BBS10" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 10" EXACT [DOID:0110132, MONDORULE:2, OMIM:615987] @@ -288871,6 +297681,7 @@ synonym: "BBS10" EXACT ABBREVIATION [DOID:0110132, MONDO:Lexical, OMIM:615987] synonym: "BBS10 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110132 {source="MONDO:equivalentTo"} xref: EFO:0009022 {source="MONDO:equivalentTo"} +xref: GARD:10209 {source="OMIM:615987"} xref: ICD10CM:Q87.89 {source="DOID:0110132"} xref: MESH:C565919 {source="MONDO:equivalentTo"} xref: OMIM:615987 {source="MONDO:equivalentTo", source="DOID:0110132"} @@ -288885,12 +297696,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014439 name: Bardet-Biedl syndrome 11 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10210"} synonym: "Bardet-Biedl syndrome 11" EXACT [MONDO:Lexical, OMIM:615988] synonym: "Bardet-Biedl syndrome caused by mutation in TRIM32" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 11" EXACT [DOID:0110133, MONDORULE:2, OMIM:615988] synonym: "BBS11" EXACT ABBREVIATION [DOID:0110133, MONDO:Lexical, OMIM:615988] synonym: "TRIM32 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110133 {source="MONDO:equivalentTo"} +xref: GARD:10210 {source="OMIM:615988"} xref: ICD10CM:Q87.89 {source="DOID:0110133"} xref: MESH:C565920 {source="MONDO:equivalentTo"} xref: OMIM:615988 {source="MONDO:equivalentTo", source="DOID:0110133"} @@ -288907,6 +297720,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014440 name: Bardet-Biedl syndrome 12 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:10211"} synonym: "Bardet-Biedl syndrome 12" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615989] synonym: "Bardet-Biedl syndrome caused by mutation in BBS12" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 12" EXACT [DOID:0110134, MONDORULE:2, OMIM:615989] @@ -288914,6 +297728,7 @@ synonym: "BBS12" EXACT ABBREVIATION [DOID:0110134, MONDO:Lexical, OMIM:615989] synonym: "BBS12 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110134 {source="MONDO:equivalentTo"} xref: EFO:0009023 {source="MONDO:equivalentTo"} +xref: GARD:10211 {source="OMIM:615989"} xref: ICD10CM:Q87.89 {source="DOID:0110134"} xref: MESH:C565921 {source="MONDO:equivalentTo"} xref: OMIM:615989 {source="MONDO:equivalentTo", source="DOID:0110134"} @@ -288928,12 +297743,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014441 name: Bardet-Biedl syndrome 13 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16037"} synonym: "Bardet-Biedl syndrome 13" EXACT [MONDO:Lexical, OMIM:615990] synonym: "Bardet-Biedl syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 13" EXACT [DOID:0110135, MONDORULE:2, OMIM:615990] synonym: "BBS13" EXACT ABBREVIATION [DOID:0110135, MONDO:Lexical, OMIM:615990] synonym: "MKS1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110135 {source="MONDO:equivalentTo"} +xref: GARD:16037 {source="OMIM:615990"} xref: ICD10CM:Q87.89 {source="DOID:0110135"} xref: MESH:C567140 {source="MONDO:equivalentTo"} xref: OMIM:615990 {source="MONDO:equivalentTo", source="DOID:0110135"} @@ -288950,11 +297767,13 @@ id: MONDO:0014442 name: Bardet-Biedl syndrome 14 def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." [DOID:0110136, PMID:18327255] subset: clingen +subset: gard_rare {source="GARD:16038"} synonym: "Bardet-Biedl syndrome 14" EXACT [MONDO:Lexical, OMIM:615991] synonym: "Bardet-Biedl syndrome 14, modifier of" EXACT [OMIM:615991, OMIM:genemap2] synonym: "Bardet-Biedl syndrome type 14" EXACT [DOID:0110136, MONDORULE:2, OMIM:615991] synonym: "BBS14" EXACT ABBREVIATION [DOID:0110136, MONDO:Lexical, OMIM:615991] xref: DOID:0110136 {source="MONDO:equivalentTo"} +xref: GARD:16038 {source="OMIM:615991"} xref: ICD10CM:Q87.89 {source="DOID:0110136"} xref: MESH:C567141 {source="MONDO:equivalentTo"} xref: OMIM:615991 {source="MONDO:equivalentTo", source="DOID:0110136"} @@ -288971,12 +297790,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014443 name: Bardet-Biedl syndrome 15 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16039"} synonym: "Bardet-Biedl syndrome 15" EXACT [MONDO:Lexical, OMIM:615992] synonym: "Bardet-Biedl syndrome caused by mutation in WDPCP" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 15" EXACT [DOID:0110137, MONDORULE:2, OMIM:615992] synonym: "BBS15" EXACT ABBREVIATION [DOID:0110137, MONDO:Lexical, OMIM:615992] synonym: "WDPCP Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110137 {source="MONDO:equivalentTo"} +xref: GARD:16039 {source="OMIM:615992"} xref: ICD10CM:Q87.89 {source="DOID:0110137"} xref: OMIM:615992 {source="DOID:0110137", source="MONDO:equivalentTo"} xref: Orphanet:110 {source="OMIM:615992"} @@ -288991,12 +297812,14 @@ id: MONDO:0014444 name: Bardet-Biedl syndrome 16 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:16040"} synonym: "Bardet-Biedl syndrome 16" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615993] synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993] synonym: "BBS16" EXACT ABBREVIATION [DOID:0110138, MONDO:Lexical, OMIM:615993] synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110138 {source="MONDO:equivalentTo"} +xref: GARD:16040 {source="OMIM:615993"} xref: ICD10CM:Q87.89 {source="DOID:0110138"} xref: OMIM:615993 {source="DOID:0110138", source="MONDO:equivalentTo"} xref: Orphanet:110 {source="OMIM:615993"} @@ -289011,12 +297834,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014445 name: Bardet-Biedl syndrome 17 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16041"} synonym: "Bardet-Biedl syndrome 17" EXACT [MONDO:Lexical, OMIM:615994] synonym: "Bardet-Biedl syndrome caused by mutation in LZTFL1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 17" EXACT [DOID:0110139, MONDORULE:2, OMIM:615994] synonym: "BBS17" EXACT ABBREVIATION [DOID:0110139, MONDO:Lexical, OMIM:615994] synonym: "LZTFL1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110139 {source="MONDO:equivalentTo"} +xref: GARD:16041 {source="OMIM:615994"} xref: ICD10CM:Q87.89 {source="DOID:0110139"} xref: OMIM:615994 {source="DOID:0110139", source="MONDO:equivalentTo"} xref: UMLS:C3714980 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289030,12 +297855,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014446 name: Bardet-Biedl syndrome 18 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16042"} synonym: "Bardet-Biedl syndrome 18" EXACT [MONDO:Lexical, OMIM:615995] synonym: "Bardet-Biedl syndrome caused by mutation in BBIP1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 18" EXACT [DOID:0110140, MONDORULE:2, OMIM:615995] synonym: "BBIP1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BBS18" EXACT ABBREVIATION [DOID:0110140, MONDO:Lexical, OMIM:615995] xref: DOID:0110140 {source="MONDO:equivalentTo"} +xref: GARD:16042 {source="OMIM:615995"} xref: ICD10CM:Q87.89 {source="DOID:0110140"} xref: OMIM:615995 {source="MONDO:equivalentTo", source="DOID:0110140"} xref: UMLS:C3806174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289049,12 +297876,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014447 name: Bardet-Biedl syndrome 19 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16043"} synonym: "Bardet-Biedl syndrome 19" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615996] synonym: "Bardet-Biedl syndrome caused by mutation in IFT27" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 19" EXACT [DOID:0110141, MONDORULE:2, OMIM:615996] synonym: "BBS19" EXACT ABBREVIATION [DOID:0110141, MONDO:Lexical, OMIM:615996] synonym: "IFT27 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110141 {source="MONDO:equivalentTo"} +xref: GARD:16043 {source="OMIM:615996"} xref: ICD10CM:Q87.89 {source="DOID:0110141"} xref: OMIM:615996 {source="MONDO:equivalentTo", source="DOID:0110141"} xref: UMLS:C3889475 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289095,10 +297924,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014449 name: congenital analbuminemia def: "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." [Orphanet:86816] -subset: gard_rare {source="GARD:0013056"} +subset: gard_rare {source="GARD:13056"} subset: ordo_disease {source="Orphanet:86816"} synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616000] synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000] +xref: GARD:13056 {source="Orphanet:86816"} xref: ICD10CM:R77.0 {source="Orphanet:86816", source="Orphanet:86816/attributed", source="Orphanet:86816/ntbt"} xref: NCIT:C124851 {source="MONDO:equivalentTo"} xref: OMIM:616000 {source="Orphanet:86816/e", source="MONDO:equivalentTo", source="Orphanet:86816"} @@ -289118,11 +297948,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13056/congen id: MONDO:0014450 name: breasts and/or nipples, aplasia or hypoplasia of, 2 def: "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16044"} synonym: "BNAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001] synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern] synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16044 {source="OMIM:616001"} xref: OMIM:616001 {source="MONDO:equivalentTo"} xref: Orphanet:180188 {source="OMIM:616001"} xref: UMLS:C4014918 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289136,6 +297968,7 @@ property_value: confidence "2.547008547008547" xsd:double id: MONDO:0014451 name: focal segmental glomerulosclerosis 7 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16045"} synonym: "focal segmental glomerulosclerosis 7" EXACT [MONDO:Lexical, OMIM:616002] synonym: "focal segmental glomerulosclerosis caused by mutation in PAX2" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 7" EXACT [DOID:0111132, MONDORULE:1, OMIM:616002] @@ -289143,6 +297976,7 @@ synonym: "FSGS7" EXACT ABBREVIATION [DOID:0111132, MONDO:Lexical, OMIM:616002] synonym: "glomerulosclerosis, focal segmental, 7" RELATED [OMIM:616002] synonym: "PAX2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111132 {source="MONDO:equivalentTo"} +xref: GARD:16045 {source="OMIM:616002"} xref: ICD10CM:N04.1 {source="DOID:0111132"} xref: OMIM:616002 {source="MONDO:equivalentTo", source="DOID:0111132"} xref: Orphanet:656 {source="MONDO:relatedTo", source="OMIM:616002"} @@ -289157,7 +297991,7 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0014452 name: familial dysfibrinogenemia def: "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." [Orphanet:98881] -subset: gard_rare +subset: gard_rare {source="GARD:2004"} subset: ordo_clinical_subtype {source="Orphanet:98881"} synonym: "congenital dysfibrinogenemia" RELATED [GARD:0002004] synonym: "dysfibrinogenemia" EXACT [NCIT:C131659] @@ -289166,6 +298000,7 @@ synonym: "dysfibrinogenemia, familial" RELATED [GARD:0002004] synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004] synonym: "hypodysfibrinogenemia" EXACT [OMIM:616004, OMIM:genemap2] synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004] +xref: GARD:2004 {source="Orphanet:98881"} xref: ICD10CM:D68.2 {source="Orphanet:98881/attributed", source="Orphanet:98881/ntbt", source="Orphanet:98881"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131659 {source="MONDO:equivalentTo"} @@ -289186,10 +298021,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2004/dysfibr [Term] id: MONDO:0014453 name: immunodeficiency 36 +subset: gard_rare {source="GARD:16046"} synonym: "IMD36" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616005] synonym: "immunodeficiency 36" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616005] synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005] xref: DOID:0111949 {source="MONDO:equivalentTo"} +xref: GARD:16046 {source="OMIM:616005"} xref: OMIM:616005 {source="MONDO:equivalentTo"} xref: Orphanet:397596 {source="OMIM:616005"} xref: UMLS:C4014934 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289201,11 +298038,13 @@ property_value: confidence "1.1527777777777777" xsd:double id: MONDO:0014454 name: Hennekam lymphangiectasia-lymphedema syndrome 2 def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16047"} synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006] synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006] synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] synonym: "HKLLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616006] +xref: GARD:16047 {source="OMIM:616006"} xref: OMIM:616006 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:616006"} xref: UMLS:C4014939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289218,9 +298057,11 @@ property_value: confidence "6.142857142857143" xsd:double [Term] id: MONDO:0014455 name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome +subset: gard_rare {source="GARD:17727"} subset: ordo_disease {source="Orphanet:436174"} synonym: "CAGSSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616007, Orphanet:436174] synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007] +xref: GARD:17727 {source="Orphanet:436174"} xref: ICD10CM:Q87.8 {source="Orphanet:436174", source="Orphanet:436174/attributed", source="Orphanet:436174/ntbt"} xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="Orphanet:436174/e"} xref: Orphanet:436174 {source="MONDO:equivalentTo"} @@ -289237,10 +298078,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014456 name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +subset: gard_rare {source="GARD:17702"} subset: ordo_disease {source="Orphanet:423384"} synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022] synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616022] xref: DOID:0112134 {source="MONDO:equivalentTo"} +xref: GARD:17702 {source="Orphanet:423384"} xref: ICD10CM:D70 {source="Orphanet:423384/attributed", source="Orphanet:423384/ntbt", source="Orphanet:423384"} xref: OMIM:616022 {source="Orphanet:423384/e", source="MONDO:equivalentTo", source="Orphanet:423384"} xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"} @@ -289259,6 +298102,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014457 name: hyperphosphatasia with intellectual disability syndrome 5 def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18353"} synonym: "glycosylphosphatidylinositol biosynthesis defect 11" RELATED [OMIM:616025] synonym: "GPIBD11" RELATED ABBREVIATION [OMIM:616025] synonym: "HPMRS5" RELATED DEPRECATED [MONDO:Lexical, OMIM:616025] @@ -289268,6 +298112,7 @@ synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT DEPRECATED synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:616025] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW" EXACT [MONDO:design_pattern] synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18353 {source="OMIM:616025"} xref: OMIM:616025 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:616025"} xref: UMLS:C4014958 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289282,6 +298127,7 @@ property_value: confidence "2.281173262883367" xsd:double id: MONDO:0014458 name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16048"} synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" EXACT [MONDO:Lexical, OMIM:616026] synonym: "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" EXACT [OMIM:616026, OMIM:genemap2] synonym: "Fanconi syndrome caused by mutation in HNF4A" EXACT [MONDO:design_pattern] @@ -289289,6 +298135,7 @@ synonym: "FRTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616026] synonym: "FRTS4 with MODY" RELATED [OMIM:616026] synonym: "HNF4A Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080760 {source="MONDO:equivalentTo"} +xref: GARD:16048 {source="OMIM:616026"} xref: OMIM:616026 {source="MONDO:equivalentTo"} xref: Orphanet:93111 {source="OMIM:616026"} xref: UMLS:C4014962 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289304,6 +298151,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014459 name: Adams-Oliver syndrome 5 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16049"} synonym: "Adams-Oliver syndrome 5" EXACT [MONDO:Lexical, OMIM:616028] synonym: "Adams-Oliver syndrome caused by mutation in NOTCH1" EXACT [] synonym: "Adams-Oliver syndrome caused by mutation in Notch1" EXACT [MONDO:design_pattern] @@ -289311,6 +298159,7 @@ synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1, OMIM:616028] synonym: "AOS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616028] synonym: "NOTCH1 Adams-Oliver syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Notch1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] +xref: GARD:16049 {source="OMIM:616028"} xref: OMIM:616028 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:616028"} xref: UMLS:C4014970 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289326,11 +298175,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014460 name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome def: "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." [Orphanet:423454] +subset: gard_rare {source="GARD:17703"} subset: ordo_disease {source="Orphanet:423454"} synonym: "ECTDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616029] synonym: "ectodermal dysplasia-short stature syndrome" EXACT [Orphanet:423454] synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical, OMIM:616029] synonym: "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" EXACT [Orphanet:423454] +xref: GARD:17703 {source="Orphanet:423454"} xref: ICD10CM:Q82.8 {source="Orphanet:423454", source="Orphanet:423454/attributed", source="Orphanet:423454/ntbt"} xref: OMIM:616029 {source="Orphanet:423454", source="MONDO:equivalentTo", source="Orphanet:423454/e"} xref: Orphanet:423454 {source="OMIM:616029", source="MONDO:equivalentTo"} @@ -289345,12 +298196,14 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014461 name: hypogonadotropic hypogonadism 22 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16050"} synonym: "FEZF1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HH22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616030] synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [MONDO:Lexical, OMIM:616030] synonym: "hypogonadotropic hypogonadism 22, with or without anosmia" EXACT [OMIM:616030, OMIM:genemap2] synonym: "hypogonadotropic hypogonadism caused by mutation in FEZF1" EXACT [MONDO:design_pattern] xref: DOID:0090081 {source="MONDO:equivalentTo"} +xref: GARD:16050 {source="OMIM:616030"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090081"} xref: OMIM:616030 {source="MONDO:equivalentTo", source="DOID:0090081"} xref: Orphanet:478 {source="OMIM:616030"} @@ -289367,6 +298220,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014462 name: focal segmental glomerulosclerosis 8 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16051"} synonym: "ANLN focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 8" EXACT [MONDO:Lexical, OMIM:616032] synonym: "focal segmental glomerulosclerosis caused by mutation in ANLN" EXACT [MONDO:design_pattern] @@ -289374,6 +298228,7 @@ synonym: "focal segmental glomerulosclerosis type 8" EXACT [DOID:0111133, MONDOR synonym: "FSGS8" EXACT ABBREVIATION [DOID:0111133, MONDO:Lexical, OMIM:616032] synonym: "glomerulosclerosis, focal segmental, 8" RELATED [OMIM:616032] xref: DOID:0111133 {source="MONDO:equivalentTo"} +xref: GARD:16051 {source="OMIM:616032"} xref: ICD10CM:N04.1 {source="DOID:0111133"} xref: OMIM:616032 {source="MONDO:equivalentTo", source="DOID:0111133"} xref: UMLS:C4014993 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289393,6 +298248,7 @@ replaced_by: MONDO:0000208 id: MONDO:0014464 name: progressive encephalopathy with leukodystrophy due to DECR deficiency def: "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." [Orphanet:431361] +subset: gard_rare {source="GARD:10327"} subset: ordo_disease {source="Orphanet:431361"} synonym: "2,4-alpha dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "2,4-dienoyl-CoA reductase deficiency" EXACT [MONDO:Lexical, OMIM:616034, Orphanet:431361] @@ -289400,6 +298256,7 @@ synonym: "DECR deficiency with hyperlysinemia" EXACT [Orphanet:431361] synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616034] synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:10327 {source="Orphanet:431361"} xref: ICD10CM:G31.8 {source="Orphanet:431361/attributed", source="Orphanet:431361/ntbt", source="Orphanet:431361"} xref: MESH:C565624 {source="MONDO:equivalentTo"} xref: OMIM:616034 {source="Orphanet:431361/e", source="MONDO:equivalentTo", source="Orphanet:431361"} @@ -289414,6 +298271,7 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014465 name: primary ciliary dyskinesia 30 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16052"} synonym: "CCDC151 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD30" EXACT ABBREVIATION [DOID:0110624, MONDO:Lexical, OMIM:616037] synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical, OMIM:616037] @@ -289423,6 +298281,7 @@ synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [DOID:0110 synonym: "primary ciliary dyskinesia caused by mutation in CCDC151" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 30" EXACT [DOID:0110624, MONDORULE:2] xref: DOID:0110624 {source="MONDO:equivalentTo"} +xref: GARD:16052 {source="OMIM:616037"} xref: ICD10CM:Q34.8 {source="DOID:0110624"} xref: OMIM:616037 {source="DOID:0110624", source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:616037"} @@ -289436,6 +298295,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014466 name: Neu-Laxova syndrome 2 def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22335"} synonym: "NEU-Laxova syndrome 2" RELATED [OMIM:616038] synonym: "Neu-Laxova syndrome 2" EXACT [MONDO:Lexical, OMIM:616038] synonym: "Neu-Laxova syndrome caused by mutation in PSAT1" EXACT [MONDO:design_pattern] @@ -289445,6 +298305,7 @@ synonym: "NLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616038] synonym: "phosphoserine aminotransferase deficiency, prenatal form" EXACT [Orphanet:583602] synonym: "PSAT1 Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080075 {source="MONDO:equivalentTo"} +xref: GARD:22335 {source="Orphanet:583602"} xref: ICD10CM:E88.8 {source="Orphanet:583602"} xref: OMIM:616038 {source="DOID:0080075", source="MONDO:equivalentTo"} xref: Orphanet:2671 {source="OMIM:616038"} @@ -289460,6 +298321,7 @@ property_value: confidence "3.6800000000000015" xsd:double id: MONDO:0014467 name: Charcot-Marie-Tooth disease recessive intermediate D def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17723"} subset: ordo_disease {source="Orphanet:435998"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203] synonym: "Charcot-Marie-Tooth disease caused by mutation in COX6A1" EXACT [MONDO:design_pattern] @@ -289470,6 +298332,7 @@ synonym: "CMTRID" EXACT ABBREVIATION [DOID:0110203, MONDO:Lexical, OMIM:616039] synonym: "COX6A1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998] xref: DOID:0110203 {source="MONDO:equivalentTo"} +xref: GARD:17723 {source="Orphanet:435998"} xref: ICD10CM:G60.0 {source="Orphanet:435998/attributed", source="Orphanet:435998/ntbt", source="DOID:0110203", source="Orphanet:435998"} xref: OMIM:616039 {source="DOID:0110203", source="Orphanet:435998", source="MONDO:equivalentTo", source="Orphanet:435998/e"} xref: Orphanet:435998 {source="DOID:0110203", source="MONDO:equivalentTo"} @@ -289486,6 +298349,7 @@ property_value: confidence "14.999999999999948" xsd:double id: MONDO:0014468 name: congenital myasthenic syndrome 7 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16053"} synonym: "CMS7" EXACT ABBREVIATION [DOID:0110659, MONDO:Lexical, OMIM:616040] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [DOID:0110659] synonym: "congenital myasthenic syndrome caused by mutation in SYT2" EXACT [MONDO:design_pattern] @@ -289495,6 +298359,7 @@ synonym: "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neu synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [OMIM:616040] synonym: "SYT2 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110659 {source="MONDO:equivalentTo"} +xref: GARD:16053 {source="OMIM:616040"} xref: OMIM:616040 {source="DOID:0110659", source="MONDO:equivalentTo"} xref: UMLS:C4015038 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018940 {source="DOID:0110659", source="MONDO:Redundant", source="OMIM:616040"} ! congenital myasthenic syndrome @@ -289508,6 +298373,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014469 name: autosomal recessive nonsyndromic hearing loss 103 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22653"} synonym: "autosomal recessive deafness 103" NARROW [DOID:0110464] synonym: "autosomal recessive nonsyndromic deafness 103" NARROW [OMIM:616042] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" NARROW [MONDO:design_pattern] @@ -289517,6 +298383,7 @@ synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical, OMIM:616042, synonym: "deafness, autosomal recessive type 103" NARROW [MONDORULE:2, OMIM:616042] synonym: "DFNB103" NARROW ABBREVIATION [DOID:0110464, MONDO:Lexical, OMIM:616042] xref: DOID:0110464 {source="MONDO:equivalentTo"} +xref: GARD:22653 {source="OMIM:616042"} xref: ICD10CM:H90.3 {source="DOID:0110464"} xref: OMIM:616042 {source="MONDO:equivalentTo", source="DOID:0110464"} xref: UMLS:C4015050 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289531,6 +298398,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014470 name: autosomal dominant nonsyndromic hearing loss 65 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18140"} synonym: "autosomal dominant deafness 65" NARROW [DOID:0110586] synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [OMIM:616044] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] @@ -289540,6 +298408,7 @@ synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2, OMIM:616044 synonym: "DFNA65" NARROW ABBREVIATION [DOID:0110586, MONDO:Lexical, OMIM:616044] synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110586 {source="MONDO:equivalentTo"} +xref: GARD:18140 {source="OMIM:616044"} xref: ICD10CM:H90.3 {source="DOID:0110586"} xref: OMIM:616044 {source="MONDO:equivalentTo", source="DOID:0110586"} xref: UMLS:C3892048 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289555,11 +298424,13 @@ id: MONDO:0014471 name: mitochondrial proton-transporting ATP synthase complex deficiency def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913] comment: Consider splitting out nuclear type for OMIMPS +subset: gard_rare {source="GARD:18649"} subset: ordo_disease {source="Orphanet:254913"} synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} +xref: GARD:18649 {source="Orphanet:254913"} xref: ICD10CM:E88.8 {source="Orphanet:254913/attributed", source="Orphanet:254913/ntbt", source="Orphanet:254913"} xref: OMIMPS:604273 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"} @@ -289574,6 +298445,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604273"} ! inheri [Term] id: MONDO:0014472 name: periodic fever-infantile enterocolitis-autoinflammatory syndrome +subset: gard_rare {source="GARD:17725"} subset: ordo_disease {source="Orphanet:436166"} synonym: "AIFEC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616050] synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical, OMIM:616050] @@ -289583,6 +298455,7 @@ synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:4361 synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related macrophage activation syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related MAS" EXACT [Orphanet:436166] +xref: GARD:17725 {source="Orphanet:436166"} xref: ICD10CM:E85.0 {source="Orphanet:436166/attributed", source="Orphanet:436166/ntbt", source="Orphanet:436166"} xref: OMIM:616050 {source="Orphanet:436166/e", source="MONDO:equivalentTo", source="Orphanet:436166"} xref: Orphanet:436166 {source="MONDO:equivalentTo"} @@ -289595,11 +298468,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014473 name: microcephaly 13, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16054"} synonym: "autosomal recessive primary microcephaly caused by mutation in CENPE" EXACT [MONDO:design_pattern] synonym: "CENPE autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616051] synonym: "microcephaly 13, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616051] xref: DOID:0070283 {source="MONDO:equivalentTo"} +xref: GARD:16054 {source="OMIM:616051"} xref: OMIM:616051 {source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:616051"} xref: UMLS:C4015080 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289617,6 +298492,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014474 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17519"} subset: ordo_disease {source="Orphanet:352479"} synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479] @@ -289628,6 +298504,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052] xref: DOID:0110295 {source="MONDO:equivalentTo"} +xref: GARD:17519 {source="Orphanet:352479"} xref: ICD10CM:G71.0 {source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/attributed", source="Orphanet:352479/ntbt"} xref: OMIM:616052 {source="MONDO:equivalentTo", source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/e"} xref: Orphanet:352479 {source="MONDO:equivalentTo", source="DOID:0110295", source="OMIM:616052"} @@ -289646,12 +298523,14 @@ property_value: confidence "14.99999999999995" xsd:double id: MONDO:0014475 name: spinocerebellar ataxia type 40 def: "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." [Orphanet:423275] +subset: gard_rare {source="GARD:12371"} subset: ordo_disease {source="Orphanet:423275"} synonym: "SCA40" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616053, Orphanet:423275] synonym: "spinocerebellar ataxia 40" RELATED [MONDO:Lexical, OMIM:616053] synonym: "spinocerebellar ataxia type 40" EXACT [MONDORULE:2, OMIM:616053] xref: DOID:0050986 {source="MONDO:equivalentTo"} xref: EFO:0009057 {source="MONDO:equivalentTo"} +xref: GARD:12371 {source="Orphanet:423275"} xref: ICD10CM:G11.8 {source="Orphanet:423275/attributed", source="Orphanet:423275/ntbt", source="Orphanet:423275"} xref: OMIM:616053 {source="Orphanet:423275/e", source="DOID:0050986", source="MONDO:equivalentTo", source="Orphanet:423275"} xref: Orphanet:423275 {source="MONDO:equivalentTo", source="OMIM:616053"} @@ -289666,12 +298545,14 @@ property_value: confidence "15.5625" xsd:double [Term] id: MONDO:0014476 name: episodic ataxia type 8 +subset: gard_rare {source="GARD:17665"} subset: ordo_disease {source="Orphanet:401953"} synonym: "EA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616055] synonym: "episodic ataxia type 8" EXACT [Orphanet:401953] synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953] synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055] xref: DOID:0050996 {source="MONDO:equivalentTo"} +xref: GARD:17665 {source="Orphanet:401953"} xref: ICD10CM:G11.8 {source="Orphanet:401953/attributed", source="Orphanet:401953/ntbt", source="Orphanet:401953"} xref: OMIM:616055 {source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996", source="Orphanet:401953/e"} xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"} @@ -289683,7 +298564,7 @@ property_value: confidence "1.333333333333333" xsd:double id: MONDO:0014477 name: developmental and epileptic encephalopathy, 26 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0012391"} +subset: gard_rare {source="GARD:12391"} synonym: "DEE26" EXACT ABBREVIATION [OMIM:616056] synonym: "developmental and epileptic encephalopathy 26" EXACT [OMIM:616056, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy 26" EXACT [GARD:0012391] @@ -289693,6 +298574,7 @@ synonym: "epileptic encephalopathy, early infantile, 26" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2, OMIM:616056] synonym: "KCNB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080461 {source="MONDO:equivalentTo"} +xref: GARD:12391 {source="OMIM:616056"} xref: OMIM:616056 {source="MONDO:equivalentTo"} xref: UMLS:C4015119 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -289708,11 +298590,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12391/early- id: MONDO:0014478 name: mirror movements 3 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16055"} synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern] synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059] synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059] synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616059] +xref: GARD:16055 {source="OMIM:616059"} xref: OMIM:616059 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="OMIM:616059"} xref: UMLS:C4015124 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289725,8 +298609,10 @@ property_value: confidence "29.333333333333442" xsd:double [Term] id: MONDO:0014479 name: porokeratosis 8, disseminated superficial actinic type +subset: gard_rare {source="GARD:16056"} synonym: "POROK8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616063] synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:616063] +xref: GARD:16056 {source="OMIM:616063"} xref: OMIM:616063 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="OMIM:616063"} xref: UMLS:C4015128 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289738,6 +298624,7 @@ property_value: confidence "1.1527777777777777" xsd:double [Term] id: MONDO:0014480 name: 46,XY sex reversal 9 +subset: gard_rare {source="GARD:18361"} synonym: "46,XY SEX reversal 9" RELATED [OMIM:616067] synonym: "46,XY sex reversal 9" EXACT [MONDO:Lexical, OMIM:616067] synonym: "46,XY Sex reversal type 9" EXACT [MONDORULE:1, OMIM:616067] @@ -289745,6 +298632,7 @@ synonym: "46,XY Sex reversal, Zfpm2-related" RELATED [OMIM:616067] synonym: "46XY sex reversal 9" EXACT [OMIM:616067, OMIM:genemap2] synonym: "SRXY9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616067] xref: DOID:0111770 {source="MONDO:equivalentTo"} +xref: GARD:18361 {source="OMIM:616067"} xref: OMIM:616067 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="OMIM:616067"} xref: UMLS:C4015129 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289758,11 +298646,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014481 name: inflammatory skin and bowel disease, neonatal, 2 def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18430"} synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069] synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069] synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern] synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616069] +xref: GARD:18430 {source="OMIM:616069"} xref: OMIM:616069 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="OMIM:616069"} xref: UMLS:C4015130 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289776,7 +298666,7 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014482 name: intellectual disability, autosomal dominant 29 def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:13379"} synonym: "autosomal dominant intellectual disability 29" EXACT [DOID:0070059, GARD:0013379] synonym: "autosomal dominant mental retardation 29" EXACT DEPRECATED [DOID:0070059, GARD:0013379] synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059] @@ -289792,6 +298682,7 @@ synonym: "SETBP1 related developmental delay" RELATED [GARD:0013379] synonym: "SETBP1-related disorder" RELATED [GARD:0013379] synonym: "SETBP1-related intellectual disability" RELATED [GARD:0013379] xref: DOID:0070059 {source="MONDO:equivalentTo"} +xref: GARD:13379 {source="OMIM:616078"} xref: OMIM:616078 {source="GARD:0013379", source="MONDO:equivalentTo", source="DOID:0070059"} xref: Orphanet:436151 {source="GARD:0013379"} xref: UMLS:C4015141 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289805,10 +298696,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014483 name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies +subset: gard_rare {source="GARD:17640"} subset: ordo_disease {source="Orphanet:397758"} synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616079] synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758] synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079] +xref: GARD:17640 {source="Orphanet:397758"} xref: ICD10CM:H35.5 {source="Orphanet:397758", source="Orphanet:397758/attributed", source="Orphanet:397758/ntbt", source="MONDO:directSiblingOf"} xref: OMIM:616079 {source="Orphanet:397758/e", source="MONDO:equivalentTo", source="Orphanet:397758"} xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"} @@ -289821,11 +298714,13 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014484 name: microcephaly 12, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16057"} synonym: "autosomal recessive primary microcephaly caused by mutation in CDK6" EXACT [MONDO:design_pattern] synonym: "CDK6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616080] synonym: "microcephaly 12, primary, autosomal recessive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616080] xref: DOID:0070284 {source="MONDO:equivalentTo"} +xref: GARD:16057 {source="OMIM:616080"} xref: OMIM:616080 {source="MONDO:equivalentTo"} xref: UMLS:C4015156 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016660 {source="DC-OMIM:616080", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly @@ -289838,12 +298733,14 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0014485 name: pontocerebellar hypoplasia, type 1C def: "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16058"} synonym: "EXOSC8 pontocerebellar hypoplasia type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [OMIM:616081] synonym: "PCH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616081] synonym: "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8" EXACT [MONDO:design_pattern] synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081] xref: DOID:0112334 {source="MONDO:equivalentTo"} +xref: GARD:16058 {source="OMIM:616081"} xref: OMIM:616081 {source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="OMIM:616081"} xref: UMLS:C4015160 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -289857,6 +298754,7 @@ property_value: confidence "48.285714285714285" xsd:double id: MONDO:0014486 name: intellectual disability, autosomal dominant 30 def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13136"} synonym: "autosomal dominant intellectual disability 30" EXACT [DOID:0070060, GARD:0013136] synonym: "autosomal dominant mental retardation 30" EXACT DEPRECATED [DOID:0070060] synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [DOID:0070060] @@ -289868,6 +298766,7 @@ synonym: "mental retardation, autosomal dominant type 30" EXACT DEPRECATED [MOND synonym: "MRD30" EXACT ABBREVIATION [DOID:0070060, MONDO:Lexical, OMIM:616083] synonym: "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070060 {source="MONDO:equivalentTo"} +xref: GARD:13136 {source="OMIM:616083"} xref: OMIM:616083 {source="MONDO:equivalentTo", source="DOID:0070060"} xref: UMLS:C4015167 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -289882,12 +298781,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014487 name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome def: "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." [Orphanet:369861] +subset: gard_rare {source="GARD:17586"} subset: ordo_disease {source="Orphanet:369861"} synonym: "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED OMO:0003005 [] synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084] synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084] synonym: "SIFD syndrome" EXACT [Orphanet:369861] xref: DOID:0080209 {source="MONDO:equivalentTo"} +xref: GARD:17586 {source="Orphanet:369861"} xref: ICD10CM:D64.0 {source="Orphanet:369861/attributed", source="Orphanet:369861/ntbt", source="Orphanet:369861"} xref: OMIM:616084 {source="Orphanet:369861/e", source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209"} xref: Orphanet:369861 {source="MONDO:equivalentTo", source="OMIM:616084"} @@ -289921,12 +298822,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014489 name: limb-girdle muscular dystrophy due to POMK deficiency def: "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." [Orphanet:445110] +subset: gard_rare {source="GARD:17769"} subset: ordo_disease {source="Orphanet:445110"} synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110] synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094] xref: DOID:0112381 {source="MONDO:equivalentTo"} +xref: GARD:17769 {source="Orphanet:445110"} xref: ICD10CM:G71.0 {source="Orphanet:445110/attributed", source="Orphanet:445110/ntbt", source="Orphanet:445110"} xref: OMIM:616094 {source="Orphanet:445110/e", source="MONDO:equivalentTo", source="Orphanet:445110"} xref: Orphanet:445110 {source="MONDO:equivalentTo"} @@ -289939,9 +298842,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014490 name: ketoacidosis due to monocarboxylate transporter-1 deficiency +subset: gard_rare {source="GARD:17733"} subset: ordo_disease {source="Orphanet:438075"} synonym: "MCT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616095] synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical, OMIM:616095] +xref: GARD:17733 {source="Orphanet:438075"} xref: ICD10CM:E88.8 {source="Orphanet:438075", source="Orphanet:438075/attributed", source="Orphanet:438075/ntbt"} xref: OMIM:616095 {source="MONDO:equivalentTo", source="Orphanet:438075", source="Orphanet:438075/e"} xref: Orphanet:438075 {source="MONDO:equivalentTo"} @@ -289979,6 +298884,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014492 name: wooly hair-palmoplantar keratoderma syndrome def: "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." [Orphanet:420686] +subset: gard_rare {source="GARD:17697"} subset: ordo_disease {source="Orphanet:420686"} synonym: "keratoderma with woolly hair type IV" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type IV" EXACT [Orphanet:420686] @@ -289988,6 +298894,7 @@ synonym: "palmoplantar keratoderma and wooly hair" RELATED [MONDO:Lexical, OMIM: synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616099] synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT OMO:0003005 [] synonym: "wooly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686] +xref: GARD:17697 {source="Orphanet:420686"} xref: ICD10CM:Q82.8 {source="Orphanet:420686/attributed", source="Orphanet:420686/ntbt", source="Orphanet:420686"} xref: OMIM:616099 {source="Orphanet:420686", source="MONDO:equivalentTo", source="Orphanet:420686/e"} xref: Orphanet:420686 {source="MONDO:equivalentTo", source="OMIM:616099"} @@ -290001,7 +298908,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014493 name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency def: "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." [NCIT:C126341] -subset: gard_rare {source="GARD:0012316"} +subset: gard_rare {source="GARD:12316"} subset: ordo_disease {source="Orphanet:436159"} synonym: "ALPS due to CTLA4 haploinsuffiency" EXACT [Orphanet:436159] synonym: "ALPS type 5" EXACT [Orphanet:436159] @@ -290017,6 +298924,7 @@ synonym: "CTLA-4 haploinsufficiency with autoimmune infiltration disease" EXACT synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341] synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100] synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100, OMIM:genemap2] +xref: GARD:12316 {source="Orphanet:436159"} xref: ICD10CM:D47.9 {source="Orphanet:436159", source="Orphanet:436159/attributed", source="Orphanet:436159/ntbt"} xref: NCIT:C126341 {source="MONDO:equivalentTo"} xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="Orphanet:436159/e"} @@ -290033,6 +298941,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12316/autoim id: MONDO:0014494 name: psoriasis 15, pustular, susceptibility to def: "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16059"} subset: predisposition synonym: "AP1S3 generalised pustular psoriasis" EXACT OMO:0003005 [] synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -290042,6 +298951,7 @@ synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM: synonym: "PSORS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616106] synonym: "susceptibility to pustular psoriasis 15" RELATED [OMIM:616106] xref: DOID:0111281 {source="MONDO:equivalentTo"} +xref: GARD:16059 {source="OMIM:616106"} xref: OMIM:616106 {source="MONDO:equivalentTo"} xref: Orphanet:247353 {source="OMIM:616106"} xref: UMLS:C4015235 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -290055,10 +298965,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014495 name: retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:17730"} subset: ordo_disease {source="Orphanet:436245"} synonym: "RDJCSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616108] synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical, OMIM:616108] synonym: "retinal dystrophy-juvenile cataract-short stature syndrome" EXACT [Orphanet:436245] +xref: GARD:17730 {source="Orphanet:436245"} xref: ICD10CM:Q87.8 {source="Orphanet:436245/attributed", source="Orphanet:436245/btnt", source="Orphanet:436245"} xref: OMIM:616108 {source="Orphanet:436245/e", source="MONDO:equivalentTo", source="Orphanet:436245"} xref: Orphanet:436245 {source="MONDO:equivalentTo"} @@ -290080,12 +298992,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014496 name: mitochondrial complex III deficiency nuclear type 9 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16060"} synonym: "MC3DN9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616111] synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [OMIM:616111] synonym: "mitochondrial complex III deficiency caused by mutation in UQCC3" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical, OMIM:616111] synonym: "UQCC3 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080118 {source="MONDO:equivalentTo"} +xref: GARD:16060 {source="OMIM:616111"} xref: OMIM:616111 {source="MONDO:equivalentTo", source="DOID:0080118"} xref: Orphanet:1460 {source="OMIM:616111"} xref: UMLS:C4015253 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290100,9 +299014,11 @@ property_value: confidence "17.88808347074" xsd:double [Term] id: MONDO:0014497 name: polyendocrine-polyneuropathy syndrome +subset: gard_rare {source="GARD:17787"} subset: ordo_disease {source="Orphanet:453533"} synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616113] synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113] +xref: GARD:17787 {source="Orphanet:453533"} xref: OMIM:616113 {source="Orphanet:453533", source="MONDO:equivalentTo", source="Orphanet:453533/e"} xref: Orphanet:453533 {source="MONDO:equivalentTo"} xref: UMLS:C4015261 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290121,6 +299037,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014498 name: familial cold autoinflammatory syndrome 4 def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16061", source="GARD:18014"} subset: ordo_disease {source="Orphanet:576349"} synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern] @@ -290129,6 +299046,8 @@ synonym: "FCAS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616115] synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRC4-related familial cold autoinflammatory syndrome" EXACT [Orphanet:576349] xref: DOID:0090065 {source="MONDO:equivalentTo"} +xref: GARD:16061 {source="OMIM:616115"} +xref: GARD:18014 {source="Orphanet:576349"} xref: ICD10CM:L50.2 {source="DOID:0090065"} xref: OMIM:616115 {source="DOID:0090065", source="MONDO:equivalentTo"} xref: Orphanet:47045 {source="DOID:0090065"} @@ -290146,6 +299065,7 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0014499 name: intellectual disability, autosomal recessive 46 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22568"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1" EXACT [MONDO:design_pattern] synonym: "intellectual disability, autosomal recessive 46" EXACT [MONDO:Lexical, OMIM:616116] synonym: "intellectual disability, autosomal recessive type 46" EXACT [MONDORULE:2, OMIM:616116] @@ -290154,6 +299074,7 @@ synonym: "mental retardation, autosomal recessive type 46" EXACT DEPRECATED [MON synonym: "MRT46" RELATED DEPRECATED [MONDO:Lexical, OMIM:616116] synonym: "NDST1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081210 {source="MONDO:equivalentTo"} +xref: GARD:22568 {source="OMIM:616116"} xref: OMIM:616116 {source="MONDO:equivalentTo"} xref: UMLS:C4015283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:616116", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability @@ -290166,11 +299087,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0014500 name: atrial conduction disease def: "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." [EFO:0005304] +subset: gard_rare {source="GARD:17729"} subset: ordo_disease {source="Orphanet:436242"} synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:616117] synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616117] synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242] xref: EFO:0005304 {source="MONDO:equivalentTo"} +xref: GARD:17729 {source="Orphanet:436242"} xref: ICD10CM:I45.8 {source="Orphanet:436242", source="Orphanet:436242/attributed", source="Orphanet:436242/ntbt"} xref: OMIM:616117 {source="Orphanet:436242/e", source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242"} xref: Orphanet:436242 {source="MONDO:equivalentTo"} @@ -290196,6 +299119,7 @@ id: MONDO:0014502 name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." [Orphanet:319563] comment: Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease +subset: gard_rare {source="GARD:17458"} subset: ordo_disease {source="Orphanet:319563"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" EXACT [] @@ -290207,6 +299131,7 @@ synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial di synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126] synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563] xref: DOID:0111934 {source="MONDO:equivalentTo"} +xref: GARD:17458 {source="Orphanet:319563"} xref: ICD10CM:D84.8 {source="Orphanet:319563", source="Orphanet:319563/attributed", source="Orphanet:319563/ntbt"} xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="Orphanet:319563/e"} xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"} @@ -290221,6 +299146,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014503 name: autosomal recessive spinocerebellar ataxia 17 def: "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17786"} subset: ordo_disease {source="Orphanet:453521"} synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [Orphanet:453521] synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" EXACT [MONDO:design_pattern] @@ -290231,6 +299157,7 @@ synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:45 synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127] synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2, OMIM:616127] xref: DOID:0080064 {source="MONDO:equivalentTo"} +xref: GARD:17786 {source="Orphanet:453521"} xref: ICD10CM:G11.1 {source="Orphanet:453521/attributed", source="Orphanet:453521/ntbt", source="Orphanet:453521"} xref: OMIM:616127 {source="DOID:0080064", source="Orphanet:453521", source="MONDO:equivalentTo", source="Orphanet:453521/e"} xref: Orphanet:453521 {source="MONDO:equivalentTo"} @@ -290248,11 +299175,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014504 name: Perrault syndrome 5 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16062"} synonym: "Perrault syndrome 5" EXACT [MONDO:Lexical, OMIM:616138] synonym: "Perrault syndrome caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1, OMIM:616138] synonym: "PRLTS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616138] synonym: "TWNK Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16062 {source="OMIM:616138"} xref: OMIM:616138 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:616138"} xref: UMLS:C4015307 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290267,6 +299196,7 @@ property_value: confidence "1.4822000130642108" xsd:double id: MONDO:0014505 name: developmental and epileptic encephalopathy, 27 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16063"} synonym: "DEE27" EXACT ABBREVIATION [OMIM:616139] synonym: "developmental and epileptic encephalopathy 27" EXACT [OMIM:616139, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] @@ -290275,6 +299205,7 @@ synonym: "epileptic encephalopathy, early infantile, 27" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2, OMIM:616139] synonym: "GRIN2B early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080444 {source="MONDO:equivalentTo"} +xref: GARD:16063 {source="OMIM:616139"} xref: OMIM:616139 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:616139"} xref: UMLS:C4015316 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290290,6 +299221,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014506 name: hypomyelinating leukodystrophy 9 def: "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17734"} subset: ordo_disease {source="Orphanet:438114"} synonym: "HLD9" EXACT ABBREVIATION [DOID:0060791, MONDO:Lexical, OMIM:616140] synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1] @@ -290299,6 +299231,7 @@ synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:6161 synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791] xref: DOID:0060791 {source="MONDO:equivalentTo"} +xref: GARD:17734 {source="Orphanet:438114"} xref: ICD10CM:E75.2 {source="DOID:0060791", source="Orphanet:438114/attributed", source="Orphanet:438114/ntbt", source="Orphanet:438114"} xref: OMIM:616140 {source="DOID:0060791", source="Orphanet:438114/e", source="MONDO:equivalentTo", source="Orphanet:438114"} xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"} @@ -290316,7 +299249,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014507 name: Catel-Manzke syndrome def: "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." [Orphanet:1388] -subset: gard_rare {source="GARD:0000028"} +subset: gard_rare {source="GARD:28"} subset: ordo_malformation_syndrome {source="Orphanet:1388"} synonym: "Catel Manzke syndrome" RELATED [GARD:0000028] synonym: "Catel-Manzke syndrome" EXACT [MONDO:Lexical, OMIM:616145] @@ -290331,6 +299264,7 @@ synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orph synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145] synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] xref: DOID:0081122 {source="MONDO:equivalentTo"} +xref: GARD:28 {source="Orphanet:1388"} xref: ICD10CM:Q87.8 {source="Orphanet:1388/attributed", source="Orphanet:1388/ntbt", source="Orphanet:1388"} xref: MESH:C535347 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="Orphanet:1388/nd"} @@ -290355,11 +299289,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/28/catel-man id: MONDO:0014508 name: vitelliform macular dystrophy 4 def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16064"} synonym: "IMPG1 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular dystrophy, vitelliform, 4" EXACT [MONDO:Lexical, OMIM:616151] synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1, OMIM:616151] synonym: "vitelliform macular dystrophy caused by mutation in IMPG1" EXACT [MONDO:design_pattern] synonym: "VMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616151] +xref: GARD:16064 {source="OMIM:616151"} xref: OMIM:616151 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:616151"} xref: UMLS:C4015342 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290373,11 +299309,13 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014509 name: vitelliform macular dystrophy 5 def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16065"} synonym: "IMPG2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular dystrophy, vitelliform, 5" EXACT [MONDO:Lexical, OMIM:616152] synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1, OMIM:616152] synonym: "vitelliform macular dystrophy caused by mutation in IMPG2" EXACT [MONDO:design_pattern] synonym: "VMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616152] +xref: GARD:16065 {source="OMIM:616152"} xref: OMIM:616152 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:616152"} xref: UMLS:C4015343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290390,6 +299328,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014510 name: fatty acyl-CoA reductase 1 deficiency +subset: gard_rare {source="GARD:13319"} subset: ordo_disease {source="Orphanet:438178"} synonym: "FAR1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "fatty acyl-CoA reductase 1 deficiency" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] @@ -290402,6 +299341,7 @@ synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT [] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178] xref: DOID:0081243 {source="MONDO:equivalentTo"} +xref: GARD:13319 {source="Orphanet:438178"} xref: ICD10CM:E71.3 {source="Orphanet:438178", source="Orphanet:438178/attributed", source="Orphanet:438178/ntbt"} xref: OMIM:616154 {source="Orphanet:438178/e", source="MONDO:equivalentTo", source="Orphanet:438178"} xref: Orphanet:438178 {source="MONDO:equivalentTo"} @@ -290421,6 +299361,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014511 name: Charcot-Marie-Tooth disease axonal type 2S def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17751"} subset: ordo_disease {source="Orphanet:443073"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] @@ -290432,6 +299373,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155] synonym: "CMT2S" EXACT ABBREVIATION [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073] synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110171 {source="MONDO:equivalentTo"} +xref: GARD:17751 {source="Orphanet:443073"} xref: ICD10CM:G60.0 {source="Orphanet:443073", source="Orphanet:443073/attributed", source="Orphanet:443073/ntbt"} xref: OMIM:616155 {source="Orphanet:443073/e", source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073"} xref: Orphanet:443073 {source="MONDO:equivalentTo", source="DOID:0110171"} @@ -290447,6 +299389,7 @@ property_value: confidence "0.4999999999999998" xsd:double id: MONDO:0014512 name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation def: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." [Orphanet:438216] +subset: gard_rare {source="GARD:17740"} subset: ordo_clinical_subtype {source="Orphanet:438216"} synonym: "autosomal dominant intellectual disability 31" EXACT [DOID:0070061] synonym: "autosomal dominant mental retardation 31" EXACT DEPRECATED [DOID:0070061] @@ -290459,6 +299402,7 @@ synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical, OMIM:616158] synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158, OMIM:genemap2] synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070061 {source="MONDO:equivalentTo"} +xref: GARD:17740 {source="Orphanet:438216"} xref: ICD10CM:G40.4 {source="Orphanet:438216", source="Orphanet:438216/attributed", source="Orphanet:438216/ntbt"} xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="Orphanet:438216/e", source="DOID:0070061"} xref: Orphanet:438216 {source="MONDO:equivalentTo"} @@ -290476,12 +299420,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014513 name: nemaline myopathy 10 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16066"} synonym: "LMOD3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM10" EXACT ABBREVIATION [DOID:0110931, MONDO:Lexical, OMIM:616165] synonym: "nemaline myopathy 10" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616165] synonym: "nemaline myopathy caused by mutation in LMOD3" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 10" EXACT [DOID:0110931, MONDORULE:2, OMIM:616165] xref: DOID:0110931 {source="MONDO:equivalentTo"} +xref: GARD:16066 {source="OMIM:616165"} xref: OMIM:616165 {source="DOID:0110931", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:616165"} xref: UMLS:C4015360 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290497,12 +299443,14 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0014514 name: aortic aneurysm, familial thoracic 9 def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16067"} synonym: "AAT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616166] synonym: "aortic aneurysm, familial thoracic 9" EXACT [MONDO:Lexical, OMIM:616166] synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1, OMIM:616166] synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [OMIM:616166] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" EXACT [MONDO:design_pattern] synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16067 {source="OMIM:616166"} xref: OMIM:616166 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:616166"} xref: UMLS:C4015368 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290547,6 +299495,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014517 name: generalized epilepsy with febrile seizures plus, type 9 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18668"} synonym: "Gefs+, type 9" RELATED [OMIM:616172] synonym: "GEFSP9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616172] synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT OMO:0003005 [] @@ -290559,6 +299508,7 @@ synonym: "STX1b generalised epilepsy with febrile seizures plus" EXACT OMO:00030 synonym: "STX1B generalized epilepsy with febrile seizures plus" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "STX1b generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern] xref: DOID:0111301 {source="MONDO:equivalentTo"} +xref: GARD:18668 {source="OMIM:616172"} xref: OMIM:616172 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:616172"} xref: UMLS:C4015395 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290571,6 +299521,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014518 name: platelet-type bleeding disorder 19 def: "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17738"} subset: ordo_disease {source="Orphanet:438207"} synonym: "BDPLT19" EXACT ABBREVIATION [DOID:0111048, MONDO:Lexical, OMIM:616176] synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical, OMIM:616176] @@ -290578,6 +299529,7 @@ synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKA synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048] xref: DOID:0111048 {source="MONDO:equivalentTo"} +xref: GARD:17738 {source="Orphanet:438207"} xref: ICD10CM:D69.4 {source="Orphanet:438207/attributed", source="Orphanet:438207/ntbt", source="Orphanet:438207", source="DOID:0111048"} xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source="Orphanet:438207/e", source="DOID:0111048"} xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"} @@ -290603,11 +299555,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014520 name: 46,XX ovarian dysgenesis-short stature syndrome +subset: gard_rare {source="GARD:17760"} subset: ordo_disease {source="Orphanet:444048"} synonym: "ODG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616185] synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical, OMIM:616185] synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1, OMIM:616185] xref: DOID:0080496 {source="MONDO:equivalentTo"} +xref: GARD:17760 {source="Orphanet:444048"} xref: ICD10CM:Q96.8 {source="Orphanet:444048/attributed", source="Orphanet:444048/ntbt", source="Orphanet:444048"} xref: OMIM:616185 {source="Orphanet:444048", source="MONDO:equivalentTo", source="Orphanet:444048/e"} xref: Orphanet:444048 {source="MONDO:equivalentTo"} @@ -290620,6 +299574,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014521 name: progressive myoclonic epilepsy type 7 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17715"} subset: ordo_disease {source="Orphanet:435438"} synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical, OMIM:616187] synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1, OMIM:616187] @@ -290632,6 +299587,7 @@ synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MON synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438] synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438] xref: DOID:0111447 {source="MONDO:equivalentTo"} +xref: GARD:17715 {source="Orphanet:435438"} xref: ICD10CM:G40.3 {source="Orphanet:435438/attributed", source="Orphanet:435438/ntbt", source="Orphanet:435438"} xref: NCIT:C142804 {source="MONDO:equivalentTo"} xref: OMIM:616187 {source="Orphanet:435438", source="MONDO:equivalentTo", source="Orphanet:435438/e"} @@ -290660,10 +299616,12 @@ property_value: confidence "0.30809469528042244" xsd:double [Term] id: MONDO:0014523 name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome +subset: gard_rare {source="GARD:17768"} subset: ordo_disease {source="Orphanet:445062"} synonym: "ACPHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616192] synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical, OMIM:616192] synonym: "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" EXACT [Orphanet:445062] +xref: GARD:17768 {source="Orphanet:445062"} xref: OMIM:616192 {source="MONDO:equivalentTo", source="Orphanet:445062", source="Orphanet:445062/e"} xref: Orphanet:445062 {source="MONDO:equivalentTo"} xref: UMLS:C4015436 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290678,6 +299636,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014524 name: intellectual disability, autosomal recessive 47 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:22569"} synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" EXACT [MONDO:design_pattern] synonym: "FMN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "intellectual developmental disorder, autosomal recessive 47" EXACT [OMIM:616193, OMIM:genemap2] @@ -290687,6 +299646,7 @@ synonym: "mental retardation, autosomal recessive 47" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 47" EXACT DEPRECATED [MONDORULE:2, OMIM:616193] synonym: "MRT47" RELATED DEPRECATED [MONDO:Lexical, OMIM:616193] xref: DOID:0081211 {source="MONDO:equivalentTo"} +xref: GARD:22569 {source="OMIM:616193"} xref: OMIM:616193 {source="MONDO:equivalentTo"} xref: UMLS:C4015444 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019502 {source="DC-OMIM:616193", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability @@ -290700,6 +299660,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014525 name: combined oxidative phosphorylation defect type 23 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17759"} subset: ordo_disease {source="Orphanet:444013"} synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical, OMIM:616198] synonym: "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3" EXACT [MONDO:design_pattern] @@ -290708,6 +299669,7 @@ synonym: "COXPD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616198, Orphanet:4440 synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111500 {source="MONDO:equivalentTo"} xref: EFO:0009033 {source="MONDO:equivalentTo"} +xref: GARD:17759 {source="Orphanet:444013"} xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="Orphanet:444013/e"} xref: Orphanet:444013 {source="MONDO:equivalentTo"} xref: UMLS:C4015447 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290725,12 +299687,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014526 name: polyglucosan body myopathy type 2 def: "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17793"} subset: ordo_disease {source="Orphanet:456369"} synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern] synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199] +xref: GARD:17793 {source="Orphanet:456369"} xref: ICD10CM:E74.0 {source="Orphanet:456369", source="Orphanet:456369/attributed", source="Orphanet:456369/ntbt"} xref: OMIM:616199 {source="Orphanet:456369", source="MONDO:equivalentTo", source="Orphanet:456369/e"} xref: Orphanet:456369 {source="MONDO:equivalentTo"} @@ -290748,11 +299712,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014527 name: progeroid features-hepatocellular carcinoma predisposition syndrome +subset: gard_rare {source="GARD:17722"} subset: ordo_disease {source="Orphanet:435953"} synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616200] synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200] synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953] xref: DOID:0111264 {source="MONDO:equivalentTo"} +xref: GARD:17722 {source="Orphanet:435953"} xref: OMIM:616200 {source="Orphanet:435953", source="MONDO:equivalentTo", source="Orphanet:435953/e"} xref: Orphanet:435953 {source="MONDO:equivalentTo"} xref: UMLS:C4015461 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290767,6 +299733,7 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014528 name: chronic atrial and intestinal dysrhythmia def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [DOID:0060339, PMID:25282101] +subset: gard_rare {source="GARD:12281"} subset: ordo_disease {source="Orphanet:435988"} synonym: "caid" RELATED [MONDO:Lexical, OMIM:616201] synonym: "caid syndrome" EXACT [DOID:0060339, Orphanet:435988, PMID:25282101] @@ -290776,6 +299743,7 @@ synonym: "chronic atrial dysrhythmia-intestinal motility disorder" EXACT [Orphan synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281] synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281] xref: DOID:0060339 {source="MONDO:equivalentTo"} +xref: GARD:12281 {source="Orphanet:435988"} xref: ICD10CM:K59.8 {source="Orphanet:435988/attributed", source="Orphanet:435988/ntbt", source="Orphanet:435988"} xref: OMIM:616201 {source="Orphanet:435988", source="MONDO:equivalentTo", source="Orphanet:435988/e", source="DOID:0060339"} xref: Orphanet:435988 {source="MONDO:equivalentTo"} @@ -290793,6 +299761,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014529 name: cerebellar-facial-dental syndrome def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32." [DOID:0080898] +subset: gard_rare {source="GARD:17761"} subset: ordo_malformation_syndrome {source="Orphanet:444072"} synonym: "cerebellar-facial-dental syndrome" EXACT [OMIM:616202] synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical, OMIM:616202] @@ -290800,6 +299769,7 @@ synonym: "Cerebellofaciodental syndrome" EXACT [Orphanet:444072] synonym: "CFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616202] xref: DOID:0080898 {source="MONDO:equivalentTo"} xref: EFO:0009030 {source="MONDO:equivalentTo"} +xref: GARD:17761 {source="Orphanet:444072"} xref: ICD10CM:Q87.0 {source="Orphanet:444072", source="Orphanet:444072/attributed", source="Orphanet:444072/ntbt"} xref: OMIM:616202 {source="MONDO:equivalentTo", source="Orphanet:444072", source="Orphanet:444072/e"} xref: Orphanet:444072 {source="MONDO:equivalentTo"} @@ -290818,6 +299788,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014530 name: autosomal recessive spinocerebellar ataxia 18 def: "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." [Orphanet:363432] +subset: gard_rare {source="GARD:17557"} subset: ordo_clinical_subtype {source="Orphanet:363432"} synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern] @@ -290830,6 +299801,7 @@ synonym: "SCAR18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616204, Orphanet:36343 synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204] synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204] xref: DOID:0080042 {source="MONDO:equivalentTo"} +xref: GARD:17557 {source="Orphanet:363432"} xref: ICD10CM:G11.1 {source="Orphanet:363432/attributed", source="Orphanet:363432/ntbt", source="Orphanet:363432"} xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="MONDO:equivalentTo", source="Orphanet:363432/e"} xref: Orphanet:363429 {source="OMIM:616204"} @@ -290845,6 +299817,7 @@ property_value: confidence "9.000000000000002" xsd:double id: MONDO:0014531 name: amyotrophic lateral sclerosis type 22 def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16068"} synonym: "ALS 22" EXACT [DOID:0060355] synonym: "ALS22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616208] synonym: "amyotrophic lateral sclerosis 22" EXACT [DOID:0060355] @@ -290853,6 +299826,7 @@ synonym: "amyotrophic lateral sclerosis caused by mutation in TUBA4A" EXACT [MON synonym: "amyotrophic lateral sclerosis type 22" EXACT CLINGEN_PREFERRED [DOID:0060355] synonym: "TUBA4A amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060355 {source="MONDO:equivalentTo"} +xref: GARD:16068 {source="OMIM:616208"} xref: OMIM:616208 {source="DOID:0060355", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:616208"} xref: UMLS:C4015512 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -290865,10 +299839,12 @@ property_value: confidence "0.028571428571429136" xsd:double [Term] id: MONDO:0014532 name: autosomal dominant mitochondrial myopathy with exercise intolerance +subset: gard_rare {source="GARD:17794"} subset: ordo_disease {source="Orphanet:457050"} synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616209] synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209] xref: DOID:0081357 {source="MONDO:equivalentTo"} +xref: GARD:17794 {source="Orphanet:457050"} xref: ICD10CM:G71.3 {source="Orphanet:457050", source="Orphanet:457050/attributed", source="Orphanet:457050/ntbt"} xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="Orphanet:457050/e"} xref: Orphanet:457050 {source="MONDO:equivalentTo"} @@ -290882,6 +299858,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014533 name: developmental and epileptic encephalopathy, 28 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16069"} synonym: "DEE28" EXACT ABBREVIATION [OMIM:616211] synonym: "developmental and epileptic encephalopathy 28" EXACT [OMIM:616211, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern] @@ -290892,6 +299869,7 @@ synonym: "WOREE syndrome" EXACT [PMID:30356099] synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WWOX-related epileptic encephalopathy" EXACT [PMID:30356099] xref: DOID:0080452 {source="MONDO:equivalentTo"} +xref: GARD:16069 {source="OMIM:616211"} xref: OMIM:616211 {source="MONDO:equivalentTo"} xref: UMLS:C4015519 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -290960,12 +299938,14 @@ property_value: confidence "0.1428571428571428" xsd:double id: MONDO:0014537 name: nephronophthisis 19 def: "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18081"} synonym: "DCDC2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in DCDC2" EXACT [] synonym: "nephronophthisis 19" EXACT [MONDO:Lexical, OMIM:616217] synonym: "nephronophthisis type 19" EXACT [DOID:0111126, MONDORULE:2, OMIM:616217] synonym: "NPHP19" EXACT ABBREVIATION [DOID:0111126, MONDO:Lexical, OMIM:616217] xref: DOID:0111126 {source="MONDO:equivalentTo"} +xref: GARD:18081 {source="OMIM:616217"} xref: OMIM:616217 {source="MONDO:equivalentTo", source="DOID:0111126"} xref: UMLS:C4015542 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019005 {source="DC-OMIM:616217", source="DOID:0111126", source="MONDO:Redundant", source="OMIM:616217"} ! nephronophthisis @@ -290979,12 +299959,14 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014538 name: fibrosis of extraocular muscles, congenital, 5 def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18164"} synonym: "CFEOM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616219] synonym: "COL25A1 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital fibrosis of extraocular muscles caused by mutation in COL25A1" EXACT [MONDO:design_pattern] synonym: "fibrosis of extraocular muscles, congenital, 5" EXACT [MONDO:Lexical, OMIM:616219] synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1, OMIM:616219] xref: DOID:0081020 {source="MONDO:equivalentTo"} +xref: GARD:18164 {source="OMIM:616219"} xref: OMIM:616219 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:616219"} xref: UMLS:C4015552 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291000,6 +299982,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014539 name: focal segmental glomerulosclerosis 9 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16070"} synonym: "CRB2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 9" EXACT [MONDO:Lexical, OMIM:616220] synonym: "focal segmental glomerulosclerosis caused by mutation in CRB2" EXACT [MONDO:design_pattern] @@ -291007,6 +299990,7 @@ synonym: "focal segmental glomerulosclerosis type 9" EXACT [DOID:0111134, MONDOR synonym: "FSGS9" EXACT ABBREVIATION [DOID:0111134, MONDO:Lexical, OMIM:616220] synonym: "glomerulosclerosis, focal segmental, 9" RELATED [OMIM:616220] xref: DOID:0111134 {source="MONDO:equivalentTo"} +xref: GARD:16070 {source="OMIM:616220"} xref: ICD10CM:N04.1 {source="DOID:0111134"} xref: OMIM:616220 {source="MONDO:equivalentTo", source="DOID:0111134"} xref: UMLS:C4015555 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291021,6 +300005,7 @@ id: MONDO:0014540 name: amelogenesis imperfecta type 1H def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series. {source="OMIM:616221"} +subset: gard_rare {source="GARD:16071"} synonym: "AI1H" EXACT ABBREVIATION [DOID:0110064, MONDO:Lexical, OMIM:616221] synonym: "amelogenesis imperfecta caused by mutation in ITGB6" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta type IH" EXACT [DOID:0110064] @@ -291028,6 +300013,7 @@ synonym: "amelogenesis imperfecta, type 1H" RELATED [OMIM:616221] synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical, OMIM:616221] synonym: "ITGB6 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110064 {source="MONDO:equivalentTo"} +xref: GARD:16071 {source="OMIM:616221"} xref: ICD10CM:K00.5 {source="DOID:0110064"} xref: OMIM:616221 {source="MONDO:equivalentTo", source="DOID:0110064"} xref: Orphanet:100031 {source="OMIM:616221"} @@ -291044,12 +300030,14 @@ property_value: confidence "1.2580117077907054" xsd:double id: MONDO:0014541 name: motor developmental delay due to 14q32.2 paternally expressed gene defect def: "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." [NCIT:C120409] +subset: gard_rare {source="GARD:13431"} subset: ordo_malformation_syndrome {source="Orphanet:254516"} synonym: "maternal uniparental disomy chromosome 14 syndrome" EXACT [NCIT:C120409] synonym: "mUPD14 syndrome" EXACT [NCIT:C120409] synonym: "TEMPLE syndrome" RELATED [OMIM:616222] synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222] xref: DOID:0111713 {source="MONDO:equivalentTo"} +xref: GARD:13431 {source="Orphanet:254516"} xref: NCIT:C120409 {source="MONDO:equivalentTo"} xref: OMIM:616222 {source="Orphanet:254516/e", source="MONDO:equivalentTo", source="Orphanet:254516"} xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"} @@ -291065,6 +300053,7 @@ id: MONDO:0014542 name: congenital myasthenic syndrome 15 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." [MONDO:patterns/disease_series_by_gene] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:18453"} synonym: "ALG14 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS15" EXACT ABBREVIATION [DOID:0110658, MONDO:Lexical, OMIM:616227] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [DOID:0110658] @@ -291075,6 +300064,7 @@ synonym: "myasthenic syndrome, congenital, 15, without tubular aggregates" EXACT synonym: "myasthenic syndrome, congenital, type 15" EXACT [MONDORULE:2, OMIM:616227] synonym: "myasthenic syndrome, congenital, without tubular aggregates" RELATED [OMIM:616227] xref: DOID:0110658 {source="MONDO:equivalentTo"} +xref: GARD:18453 {source="OMIM:616227"} xref: OMIM:616227 {source="DOID:0110658", source="MONDO:equivalentTo"} xref: Orphanet:353327 {source="OMIM:616227"} xref: Orphanet:590 {source="OMIM:616227"} @@ -291093,6 +300083,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014543 name: congenital myasthenic syndrome 14 def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18454"} synonym: "ALG2 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS14" EXACT ABBREVIATION [DOID:0110669, MONDO:Lexical, OMIM:616228] synonym: "CMSTA3" EXACT ABBREVIATION [DOID:0110669] @@ -291106,6 +300097,7 @@ synonym: "myasthenic syndrome, congenital, 14, with tubular aggregates" EXACT [O synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2, OMIM:616228] synonym: "myasthenic syndrome, congenital, with tubular aggregates 3" RELATED [OMIM:616228] xref: DOID:0110669 {source="MONDO:equivalentTo"} +xref: GARD:18454 {source="OMIM:616228"} xref: OMIM:616228 {source="DOID:0110669", source="MONDO:equivalentTo"} xref: Orphanet:353327 {source="OMIM:616228"} xref: Orphanet:590 {source="OMIM:616228"} @@ -291121,6 +300113,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014544 name: osteogenesis imperfecta type 16 def: "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." [DOID:0110345, PMID:24079343] +subset: gard_rare {source="GARD:16072"} synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [DOID:0110345] synonym: "chromosome 11P11.2 deletion syndrome, 91.3-Kb" RELATED [OMIM:616229] synonym: "OI, type 16" RELATED [OMIM:616229] @@ -291129,6 +300122,7 @@ synonym: "osteogenesis imperfecta type XVI" EXACT [DOID:0110345] synonym: "osteogenesis imperfecta, type 16" RELATED [OMIM:616229] synonym: "osteogenesis imperfecta, type XVI" RELATED [MONDO:Lexical, OMIM:616229] xref: DOID:0110345 {source="MONDO:equivalentTo"} +xref: GARD:16072 {source="OMIM:616229"} xref: ICD10CM:Q78.0 {source="DOID:0110345"} xref: OMIM:616229 {source="MONDO:equivalentTo", source="DOID:0110345"} xref: Orphanet:216812 {source="OMIM:616229", source="MONDO:directSiblingOf"} @@ -291141,6 +300135,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014545 name: progressive myoclonic epilepsy type 8 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17706"} subset: ordo_disease {source="Orphanet:424027"} synonym: "CERS1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical, OMIM:616230] @@ -291151,6 +300146,7 @@ synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MON synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027] synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027] xref: DOID:0111451 {source="MONDO:equivalentTo"} +xref: GARD:17706 {source="Orphanet:424027"} xref: ICD10CM:G40.3 {source="Orphanet:424027", source="Orphanet:424027/attributed", source="Orphanet:424027/ntbt"} xref: OMIM:616230 {source="Orphanet:424027", source="MONDO:equivalentTo", source="Orphanet:424027/e"} xref: Orphanet:424027 {source="MONDO:equivalentTo", source="OMIM:616230"} @@ -291166,9 +300162,11 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014546 name: myopathy due to calsequestrin and SERCA1 protein overload def: "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." [Orphanet:88635] +subset: gard_rare {source="GARD:16770"} subset: ordo_disease {source="Orphanet:88635"} synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231] synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616231] +xref: GARD:16770 {source="Orphanet:88635"} xref: ICD10CM:G71.8 {source="Orphanet:88635/attributed", source="Orphanet:88635/ntbt", source="Orphanet:88635"} xref: OMIM:616231 {source="Orphanet:88635", source="MONDO:equivalentTo", source="Orphanet:88635/e"} xref: Orphanet:88635 {source="MONDO:equivalentTo", source="OMIM:616231"} @@ -291184,6 +300182,7 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014547 name: combined oxidative phosphorylation defect type 24 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17765"} subset: ordo_disease {source="Orphanet:444458"} synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical, OMIM:616239] synonym: "combined oxidative phosphorylation deficiency caused by mutation in NARS2" EXACT [MONDO:design_pattern] @@ -291192,6 +300191,7 @@ synonym: "COXPD24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616239, Orphanet:4444 synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111485 {source="MONDO:equivalentTo"} xref: EFO:0009034 {source="MONDO:equivalentTo"} +xref: GARD:17765 {source="Orphanet:444458"} xref: ICD10CM:G71.3 {source="Orphanet:444458/attributed", source="Orphanet:444458/ntbt", source="Orphanet:444458"} xref: OMIM:616239 {source="Orphanet:444458", source="MONDO:equivalentTo", source="Orphanet:444458/e"} xref: Orphanet:444458 {source="MONDO:equivalentTo"} @@ -291207,12 +300207,14 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014548 name: long QT syndrome 14 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16073"} synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247] synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247] synonym: "LQT14" EXACT ABBREVIATION [DOID:0110655, MONDO:Lexical, OMIM:616247] xref: DOID:0110655 {source="MONDO:equivalentTo"} +xref: GARD:16073 {source="OMIM:616247"} xref: ICD10CM:I45.8 {source="DOID:0110655"} xref: NCIT:C177534 {source="MONDO:equivalentTo"} xref: OMIM:616247 {source="DOID:0110655", source="MONDO:equivalentTo"} @@ -291246,12 +300248,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014550 name: long QT syndrome 15 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16074"} synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249] synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249] synonym: "LQT15" EXACT ABBREVIATION [DOID:0110656, MONDO:Lexical, OMIM:616249] xref: DOID:0110656 {source="MONDO:equivalentTo"} +xref: GARD:16074 {source="OMIM:616249"} xref: ICD10CM:I45.8 {source="DOID:0110656"} xref: OMIM:616249 {source="DOID:0110656", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:616249", source="MONDO:directSiblingOf"} @@ -291278,10 +300282,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014552 name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome def: "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." [Orphanet:439897] +subset: gard_rare {source="GARD:17743"} subset: ordo_malformation_syndrome {source="Orphanet:439897"} synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical, OMIM:616258] synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2, OMIM:616258] synonym: "MKS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616258] +xref: GARD:17743 {source="Orphanet:439897"} xref: OMIM:616258 {source="Orphanet:439897/e", source="MONDO:equivalentTo", source="Orphanet:439897"} xref: Orphanet:439897 {source="MONDO:equivalentTo"} xref: UMLS:C4015701 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291318,6 +300324,7 @@ replaced_by: MONDO:0024189 id: MONDO:0014555 name: peeling skin syndrome type A def: "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." [Orphanet:263548] +subset: gard_rare {source="GARD:17258"} subset: ordo_clinical_subtype {source="Orphanet:263548"} synonym: "generalised deciduous skin type A" EXACT OMO:0003005 [] synonym: "generalised peeling skin syndrome type A" EXACT OMO:0003005 [] @@ -291330,6 +300337,7 @@ synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265] synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265] synonym: "PSS type A" EXACT [Orphanet:263548] synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616265] +xref: GARD:17258 {source="Orphanet:263548"} xref: ICD10CM:Q80.8 {source="Orphanet:263548/attributed", source="Orphanet:263548/ntbt", source="Orphanet:263548"} xref: OMIM:616265 {source="Orphanet:263548/e", source="MONDO:equivalentTo", source="Orphanet:263548"} xref: Orphanet:263543 {source="OMIM:616265"} @@ -291344,6 +300352,7 @@ property_value: confidence "2.9705882352941173" xsd:double id: MONDO:0014556 name: congenital contractures of the limbs and face, hypotonia, and developmental delay def: "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases." [Orphanet:562528] +subset: gard_rare {source="GARD:18622", source="GARD:16075"} subset: ordo_disorder synonym: "CLIFAHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616266] synonym: "CLIFAHDD syndrome" EXACT [Orphanet:562528] @@ -291351,6 +300360,8 @@ synonym: "congenital contractures of the limbs and face, hypotonia, and developm synonym: "congenital limbs-face contractures-hypotonia-developmental delay syndrome" EXACT [Orphanet:562528] xref: DOID:0081048 {source="MONDO:equivalentTo"} xref: EFO:1001868 {source="MONDO:equivalentTo"} +xref: GARD:16075 {source="Orphanet:562528"} +xref: GARD:18622 {source="OMIM:616266"} xref: ICD10CM:Q87.8 {source="MONDO:mondoSubClassOfSource", source="Orphanet:562528"} xref: OMIM:616266 {source="MONDO:equivalentTo", source="Orphanet:562528"} xref: Orphanet:562528 {source="MONDO:equivalentTo"} @@ -291365,7 +300376,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014557 name: ataxia - oculomotor apraxia type 4 def: "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare {source="GARD:0013111"} +subset: gard_rare {source="GARD:13111"} subset: ordo_disease {source="Orphanet:459033"} synonym: "AOA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616267, Orphanet:459033] synonym: "ataxia - oculomotor apraxia type 4" EXACT [MONDORULE:1, OMIM:616267] @@ -291374,6 +300385,7 @@ synonym: "ataxia-oculomotor apraxia-4" RELATED [GARD:0013111] synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP" EXACT [MONDO:design_pattern] synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: EFO:0009016 {source="MONDO:equivalentTo"} +xref: GARD:13111 {source="Orphanet:459033"} xref: OMIM:616267 {source="Orphanet:459033/e", source="MONDO:equivalentTo", source="Orphanet:459033"} xref: Orphanet:459033 {source="MONDO:equivalentTo"} xref: UMLS:C4225397 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291388,6 +300400,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13111/ataxia id: MONDO:0014558 name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome def: "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." [Orphanet:457193] +subset: gard_rare {source="GARD:17797"} subset: ordo_malformation_syndrome {source="Orphanet:457193"} synonym: "Arboleda-Tham syndrome" EXACT [OMIM:616268, OMIM:genemap2] synonym: "autosomal dominant intellectual disability 32" EXACT [DOID:0070062] @@ -291401,6 +300414,7 @@ synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:616268] synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical, OMIM:616268] xref: DOID:0070062 {source="MONDO:equivalentTo"} +xref: GARD:17797 {source="Orphanet:457193"} xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="Orphanet:457193/e", source="DOID:0070062"} xref: Orphanet:457193 {source="MONDO:equivalentTo"} xref: UMLS:C4225396 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -291421,6 +300435,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014559 name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +subset: gard_rare {source="GARD:17798"} subset: ordo_disease {source="Orphanet:457212"} synonym: "intellectual disability, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:616269] synonym: "intellectual disability, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:616269] @@ -291428,6 +300443,7 @@ synonym: "mental retardation, autosomal recessive 48" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 48" EXACT DEPRECATED [MONDORULE:2, OMIM:616269] synonym: "MRT48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269] xref: DOID:0081212 {source="MONDO:equivalentTo"} +xref: GARD:17798 {source="Orphanet:457212"} xref: OMIM:616269 {source="Orphanet:457212/e", source="MONDO:equivalentTo", source="Orphanet:457212"} xref: Orphanet:457212 {source="MONDO:equivalentTo"} xref: UMLS:C4225395 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291444,6 +300460,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014560 name: amelogenesis imperfecta type 1F def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16076"} synonym: "AI1F" EXACT ABBREVIATION [DOID:0110065, MONDO:Lexical, OMIM:616270] synonym: "AMBN amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amelogenesis imperfecta caused by mutation in AMBN" EXACT [MONDO:design_pattern] @@ -291453,6 +300470,7 @@ synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [OMIM:616270] synonym: "amelogenesis imperfecta, type 1F" RELATED [OMIM:616270] synonym: "amelogenesis imperfecta, type IF" RELATED [MONDO:Lexical, OMIM:616270] xref: DOID:0110065 {source="MONDO:equivalentTo"} +xref: GARD:16076 {source="OMIM:616270"} xref: ICD10CM:K00.5 {source="DOID:0110065"} xref: OMIM:616270 {source="MONDO:equivalentTo", source="DOID:0110065"} xref: Orphanet:100031 {source="OMIM:616270"} @@ -291469,6 +300487,7 @@ property_value: confidence "1.2580117077907054" xsd:double id: MONDO:0014561 name: 3-methylglutaconic aciduria, type VIIB comment: Present because it is in the OMIM series. {source="OMIM:616271"} +subset: gard_rare {source="GARD:17767"} subset: ordo_disease {source="Orphanet:445038"} synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003] synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003] @@ -291484,6 +300503,7 @@ synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003] xref: DOID:0081134 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110003 {source="MONDO:equivalentTo"} xref: EFO:0009014 {source="MONDO:equivalentTo"} +xref: GARD:17767 {source="Orphanet:445038"} xref: ICD10CM:E71.1 {source="Orphanet:445038/attributed", source="Orphanet:445038/ntbt", source="Orphanet:445038"} xref: OMIM:616271 {source="Orphanet:445038", source="MONDO:equivalentTo", source="Orphanet:445038/e", source="DOID:0110003"} xref: Orphanet:445038 {source="MONDO:equivalentTo", source="DOID:0110003"} @@ -291498,6 +300518,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014562 name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +subset: gard_rare {source="GARD:17796"} subset: ordo_disease {source="Orphanet:457185"} synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical, OMIM:616276] synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1, OMIM:616276] @@ -291505,6 +300526,7 @@ synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616276] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185] synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244] xref: DOID:0070244 {source="MONDO:equivalentTo"} +xref: GARD:17796 {source="Orphanet:457185"} xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", source="Orphanet:457185"} xref: Orphanet:457185 {source="MONDO:equivalentTo"} xref: UMLS:C4225392 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291515,10 +300537,12 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014563 name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +subset: gard_rare {source="GARD:13019"} synonym: "ECHS1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616277] synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency" RELATED [OMIM:616277] synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616277] synonym: "short-chain enoyl-CoA hydratase deficiency" RELATED [GARD:0013019] +xref: GARD:13019 {source="OMIM:616277"} xref: OMIM:616277 {source="MONDO:equivalentTo"} xref: Orphanet:506 {source="OMIM:616277"} xref: UMLS:C4225391 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291571,6 +300595,7 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0014566 name: Charcot-Marie-Tooth disease axonal type 2U def: "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." [Orphanet:397735] +subset: gard_rare {source="GARD:17638"} subset: ordo_disease {source="Orphanet:397735"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735] @@ -291583,6 +300608,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280] synonym: "CMT2U" EXACT ABBREVIATION [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735] synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110173 {source="MONDO:equivalentTo"} +xref: GARD:17638 {source="Orphanet:397735"} xref: ICD10CM:G60.0 {source="DOID:0110173", source="Orphanet:397735/attributed", source="Orphanet:397735/ntbt", source="Orphanet:397735"} xref: OMIM:616280 {source="Orphanet:397735/e", source="MONDO:equivalentTo", source="DOID:0110173", source="Orphanet:397735"} xref: Orphanet:397735 {source="MONDO:equivalentTo", source="OMIM:616280", source="DOID:0110173"} @@ -291598,6 +300624,7 @@ property_value: confidence "15.666666666666679" xsd:double [Term] id: MONDO:0014567 name: glutamate pyruvate transaminase 2 deficiency +subset: gard_rare {source="GARD:17853"} subset: ordo_disease {source="Orphanet:477673"} synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "GPT2 deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, PMID:31471722] @@ -291606,6 +300633,7 @@ synonym: "mental retardation, autosomal recessive type 49" EXACT DEPRECATED [MON synonym: "MRT49" EXACT DEPRECATED [OMIM:616281] synonym: "neurodevelopmental disorder with microcephaly and spastic paraplegia" EXACT [OMIM:616281, OMIM:genemap2] synonym: "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" EXACT [Orphanet:477673] +xref: GARD:17853 {source="Orphanet:477673"} xref: OMIM:616281 {source="Orphanet:477673", source="MONDO:equivalentTo"} xref: Orphanet:477673 {source="MONDO:equivalentTo"} xref: UMLS:C4225388 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -291628,6 +300656,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014568 name: hereditary spastic paraplegia 73 def: "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." [Orphanet:444099] +subset: gard_rare {source="GARD:17763"} subset: ordo_disease {source="Orphanet:444099"} synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818] @@ -291637,6 +300666,7 @@ synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE: synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282] synonym: "SPG73" EXACT ABBREVIATION [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099] xref: DOID:0110818 {source="MONDO:equivalentTo"} +xref: GARD:17763 {source="Orphanet:444099"} xref: ICD10CM:G11.4 {source="Orphanet:444099/attributed", source="Orphanet:444099/ntbt", source="DOID:0110818", source="Orphanet:444099"} xref: OMIM:616282 {source="Orphanet:444099/e", source="MONDO:equivalentTo", source="DOID:0110818", source="Orphanet:444099"} xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"} @@ -291651,11 +300681,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014569 name: lethal congenital contracture syndrome 7 def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:18564"} synonym: "CNTNAP1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCCS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616286] synonym: "lethal congenital contracture syndrome 7" EXACT [MONDO:Lexical, OMIM:616286] synonym: "lethal congenital contracture syndrome caused by mutation in CNTNAP1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMIM:616286] +xref: GARD:18564 {source="OMIM:616286"} xref: OMIM:616286 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:616286"} xref: UMLS:C4225386 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291671,11 +300703,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014570 name: lethal congenital contracture syndrome 8 def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:18565"} synonym: "ADCY6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCCS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616287] synonym: "lethal congenital contracture syndrome 8" EXACT [MONDO:Lexical, OMIM:616287] synonym: "lethal congenital contracture syndrome caused by mutation in ADCY6" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMIM:616287] +xref: GARD:18565 {source="OMIM:616287"} xref: OMIM:616287 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:616287"} xref: UMLS:C4225385 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291690,11 +300724,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014571 name: optic atrophy 9 +subset: gard_rare {source="GARD:18199"} synonym: "ACO2 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive isolated optic atrophy caused by mutation in ACO2" EXACT [MONDO:design_pattern] synonym: "OPA9" RELATED ABBREVIATION [OMIM:616289] synonym: "optic atrophy 9" EXACT [OMIM:616289] xref: DOID:0111442 {source="MONDO:equivalentTo"} +xref: GARD:18199 {source="OMIM:616289"} xref: OMIM:616289 {source="MONDO:equivalentTo"} xref: UMLS:C4085249 {source="MONDO:equivalentTo"} xref: UMLS:C4225384 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -291704,6 +300740,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014572 name: Lichtenstein-Knorr syndrome +subset: gard_rare {source="GARD:17780"} subset: ordo_disease {source="Orphanet:448251"} synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [DOID:0080065] synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [DOID:0080065, MONDORULE:2] @@ -291714,6 +300751,7 @@ synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss synd synonym: "SCAR19" EXACT ABBREVIATION [Orphanet:448251] synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291] xref: DOID:0080065 {source="MONDO:equivalentTo"} +xref: GARD:17780 {source="Orphanet:448251"} xref: ICD10CM:G11.1 {source="Orphanet:448251", source="Orphanet:448251/attributed", source="Orphanet:448251/ntbt"} xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="Orphanet:448251", source="Orphanet:448251/e"} xref: Orphanet:448251 {source="MONDO:equivalentTo"} @@ -291726,12 +300764,14 @@ property_value: confidence "3.062499999999999" xsd:double id: MONDO:0014573 name: Cole-Carpenter syndrome 2 def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16077"} synonym: "CLCRP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616294] synonym: "COLE-CARPENTER syndrome 2" RELATED [OMIM:616294] synonym: "Cole-Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:616294] synonym: "Cole-Carpenter syndrome caused by mutation in SEC24D" EXACT [MONDO:design_pattern] synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:616294] synonym: "SEC24D Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16077 {source="OMIM:616294"} xref: OMIM:616294 {source="MONDO:equivalentTo"} xref: Orphanet:2050 {source="OMIM:616294"} xref: UMLS:C4225382 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291746,11 +300786,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014574 name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +subset: gard_rare {source="GARD:17764"} subset: ordo_disease {source="Orphanet:444138"} synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" RELATED [MONDO:Lexical, OMIM:616295] synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [Orphanet:444138] synonym: "plack" RELATED [MONDO:Lexical, OMIM:616295] synonym: "plack syndrome" EXACT [Orphanet:444138] +xref: GARD:17764 {source="Orphanet:444138"} xref: ICD10CM:Q82.8 {source="Orphanet:444138/attributed", source="Orphanet:444138/ntbt", source="Orphanet:444138"} xref: OMIM:616295 {source="Orphanet:444138", source="MONDO:equivalentTo", source="Orphanet:444138/e"} xref: Orphanet:444138 {source="MONDO:equivalentTo"} @@ -291767,11 +300809,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014575 name: Singleton-Merten syndrome 2 def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16078"} synonym: "DDX58 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SGMRT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616298] synonym: "singleton-Merten dysplasia caused by mutation in DDX58" EXACT [MONDO:design_pattern] synonym: "singleton-Merten syndrome 2" EXACT [MONDO:Lexical, OMIM:616298] synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298] +xref: GARD:16078 {source="OMIM:616298"} xref: OMIM:616298 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="OMIM:616298"} xref: UMLS:C4225380 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291786,9 +300830,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014576 name: lipoyl transferase 1 deficiency +subset: gard_rare {source="GARD:12680"} subset: ordo_disease {source="Orphanet:401862"} synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299] synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616299] +xref: GARD:12680 {source="Orphanet:401862"} xref: ICD10CM:E88.8 {source="Orphanet:401862", source="Orphanet:401862/attributed", source="Orphanet:401862/ntbt"} xref: OMIM:616299 {source="Orphanet:401862", source="MONDO:equivalentTo", source="Orphanet:401862/e"} xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"} @@ -291801,9 +300847,11 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014577 name: short-rib thoracic dysplasia 13 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." [DOID:0110093, PMID:25361962] +subset: gard_rare {source="GARD:16079"} synonym: "short-rib thoracic dysplasia 13 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:616300] synonym: "SRTD13" EXACT ABBREVIATION [DOID:0110093, MONDO:Lexical, OMIM:616300] xref: DOID:0110093 {source="MONDO:equivalentTo"} +xref: GARD:16079 {source="OMIM:616300"} xref: ICD10CM:Q77.2 {source="DOID:0110093"} xref: OMIM:616300 {source="DOID:0110093", source="MONDO:equivalentTo"} xref: Orphanet:474 {source="OMIM:616300"} @@ -291816,6 +300864,7 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014578 name: congenital myasthenic syndrome 17 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16080"} synonym: "CMS17" EXACT ABBREVIATION [DOID:0110674, MONDO:Lexical, OMIM:616304] synonym: "congenital myasthenic syndrome caused by mutation in LRP4" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 17" EXACT [DOID:0110674, MONDORULE:2] @@ -291823,6 +300872,7 @@ synonym: "LRP4 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MOND synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical, OMIM:616304] synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2, OMIM:616304] xref: DOID:0110674 {source="MONDO:equivalentTo"} +xref: GARD:16080 {source="OMIM:616304"} xref: OMIM:616304 {source="MONDO:equivalentTo", source="DOID:0110674"} xref: Orphanet:590 {source="OMIM:616304"} xref: UMLS:C4225377 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291837,12 +300887,14 @@ property_value: confidence "3.24884739376658" xsd:double id: MONDO:0014579 name: Senior-Loken syndrome 8 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16081"} synonym: "SENIOR-Loken syndrome 8" RELATED [OMIM:616307] synonym: "Senior-Loken syndrome 8" EXACT [MONDO:Lexical, OMIM:616307] synonym: "Senior-Loken syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1, OMIM:616307] synonym: "SLSN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616307] synonym: "WDR19 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16081 {source="OMIM:616307"} xref: OMIM:616307 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:616307"} xref: UMLS:C4225376 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291856,6 +300908,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014580 name: intellectual disability, autosomal dominant 33 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16082"} synonym: "autosomal dominant intellectual disability 33" EXACT [DOID:0070063] synonym: "autosomal dominant mental retardation 33" EXACT DEPRECATED [DOID:0070063] synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [DOID:0070063] @@ -291867,6 +300920,7 @@ synonym: "mental retardation, autosomal dominant 33" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 33" EXACT DEPRECATED [MONDORULE:2, OMIM:616311] synonym: "MRD33" EXACT ABBREVIATION [DOID:0070063, MONDO:Lexical, OMIM:616311] xref: DOID:0070063 {source="MONDO:equivalentTo"} +xref: GARD:16082 {source="OMIM:616311"} xref: OMIM:616311 {source="MONDO:equivalentTo", source="DOID:0070063"} xref: Orphanet:2514 {source="MONDO:relatedTo", source="OMIM:616311"} xref: UMLS:C4225375 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -291882,6 +300936,7 @@ property_value: confidence "4.025" xsd:double id: MONDO:0014581 name: congenital myasthenic syndrome 2A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110681, PMID:25792100, PMID:8872460] +subset: gard_rare {source="GARD:9895"} synonym: "CMS IIa" RELATED [GARD:0009895] synonym: "CMS2A" EXACT ABBREVIATION [DOID:0110681, GARD:0009895, MONDO:Lexical, OMIM:616313] synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [DOID:0110681] @@ -291893,6 +300948,7 @@ synonym: "myasthenic syndrome, congenital, type IIa" RELATED [GARD:0009895] synonym: "SCCMS" RELATED ABBREVIATION [GARD:0009895] synonym: "slow channel congenital myasthenic syndrome" RELATED [GARD:0009895] xref: DOID:0110681 {source="MONDO:equivalentTo"} +xref: GARD:9895 {source="OMIM:616313"} xref: OMIM:616313 {source="MONDO:equivalentTo", source="DOID:0110681"} xref: Orphanet:590 {source="OMIM:616313"} xref: UMLS:C4225374 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291907,11 +300963,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014582 name: congenital myasthenic syndrome 2C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110680, PMID:10562302, PMID:25792100] +subset: gard_rare {source="GARD:16083"} synonym: "CMS2C" EXACT ABBREVIATION [DOID:0110680, MONDO:Lexical, OMIM:616314] synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [DOID:0110680] synonym: "congenital myasthenic syndrome type 2C" EXACT [DOID:0110680, MONDORULE:4] synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616314] xref: DOID:0110680 {source="MONDO:equivalentTo"} +xref: GARD:16083 {source="OMIM:616314"} xref: OMIM:616314 {source="MONDO:equivalentTo", source="DOID:0110680"} xref: Orphanet:590 {source="OMIM:616314"} xref: UMLS:C4225373 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -291926,11 +300984,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014583 name: congenital myasthenic syndrome 3A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110666, PMID:11782989, PMID:25792100] +subset: gard_rare {source="GARD:16084"} synonym: "CMS3A" EXACT ABBREVIATION [DOID:0110666, MONDO:Lexical, OMIM:616321] synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [DOID:0110666] synonym: "congenital myasthenic syndrome type 3A" EXACT [DOID:0110666, MONDORULE:4] synonym: "myasthenic syndrome, congenital, 3A, slow-channel" RELATED [MONDO:Lexical, OMIM:616321] xref: DOID:0110666 {source="MONDO:equivalentTo"} +xref: GARD:16084 {source="OMIM:616321"} xref: OMIM:616321 {source="DOID:0110666", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616321"} xref: Orphanet:98913 {source="OMIM:616321"} @@ -291946,11 +301006,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014584 name: congenital myasthenic syndrome 3B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110665, PMID:11435464, PMID:25792100] +subset: gard_rare {source="GARD:16085"} synonym: "CMS3B" EXACT ABBREVIATION [DOID:0110665, MONDO:Lexical, OMIM:616322] synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [DOID:0110665] synonym: "congenital myasthenic syndrome type 3B" EXACT [DOID:0110665, MONDORULE:4] synonym: "myasthenic syndrome, congenital, 3B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616322] xref: DOID:0110665 {source="MONDO:equivalentTo"} +xref: GARD:16085 {source="OMIM:616322"} xref: OMIM:616322 {source="DOID:0110665", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616322"} xref: Orphanet:98913 {source="OMIM:616322"} @@ -291966,11 +301028,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014585 name: congenital myasthenic syndrome 3C def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110664, PMID:16916845] +subset: gard_rare {source="GARD:16086"} synonym: "CMS3C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616323] synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [DOID:0110664] synonym: "congenital myasthenic syndrome type 3C" EXACT [DOID:0110664, MONDORULE:4] synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616323] xref: DOID:0110664 {source="MONDO:equivalentTo"} +xref: GARD:16086 {source="OMIM:616323"} xref: OMIM:616323 {source="MONDO:equivalentTo", source="DOID:0110664"} xref: Orphanet:590 {source="OMIM:616323"} xref: Orphanet:98913 {source="OMIM:616323"} @@ -291986,11 +301050,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014586 name: congenital myasthenic syndrome 4B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110677, PMID:25792100, PMID:8755487] +subset: gard_rare {source="GARD:16087"} synonym: "CMS4B" EXACT ABBREVIATION [DOID:0110677, MONDO:Lexical, OMIM:616324] synonym: "congenital myasthenic syndrome 4B fast-channel" EXACT [DOID:0110677] synonym: "congenital myasthenic syndrome type 4B" EXACT [DOID:0110677, MONDORULE:4] synonym: "myasthenic syndrome, congenital, 4B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616324] xref: DOID:0110677 {source="MONDO:equivalentTo"} +xref: GARD:16087 {source="OMIM:616324"} xref: OMIM:616324 {source="DOID:0110677", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616324"} xref: UMLS:C4225369 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292005,6 +301071,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014587 name: congenital myasthenic syndrome 9 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16088"} synonym: "CMS9" EXACT ABBREVIATION [DOID:0110670, MONDO:Lexical, OMIM:616325] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [DOID:0110670] synonym: "congenital myasthenic syndrome caused by mutation in MUSK" EXACT [MONDO:design_pattern] @@ -292012,6 +301079,7 @@ synonym: "congenital myasthenic syndrome type 9" EXACT [DOID:0110670, MONDORULE: synonym: "MUSK congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616325] xref: DOID:0110670 {source="MONDO:equivalentTo"} +xref: GARD:16088 {source="OMIM:616325"} xref: OMIM:616325 {source="MONDO:equivalentTo", source="DOID:0110670"} xref: Orphanet:590 {source="OMIM:616325"} xref: UMLS:C4225368 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292028,6 +301096,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014588 name: congenital myasthenic syndrome 11 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16089"} synonym: "CMS Ie" EXACT [DOID:0110675] synonym: "Cms Ie" RELATED [OMIM:616326] synonym: "Cms Ie, formerly" RELATED [OMIM:616326] @@ -292042,6 +301111,7 @@ synonym: "myasthenic syndrome, congenital, Ie" RELATED [OMIM:616326] synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [OMIM:616326] synonym: "RAPSN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110675 {source="MONDO:equivalentTo"} +xref: GARD:16089 {source="OMIM:616326"} xref: MESH:C563831 {source="MONDO:equivalentTo"} xref: OMIM:616326 {source="MONDO:equivalentTo", source="DOID:0110675"} xref: Orphanet:590 {source="OMIM:616326"} @@ -292059,6 +301129,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014589 name: maturity-onset diabetes of the young type 13 def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16090"} synonym: "KCNJ11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11" EXACT [] synonym: "maturity-onset diabetes of the young, type 13" RELATED [MONDO:Lexical, OMIM:616329] @@ -292066,6 +301137,7 @@ synonym: "MODY type 13" EXACT [DOID:0111110] synonym: "MODY, type 13" RELATED [OMIM:616329] synonym: "MODY13" EXACT ABBREVIATION [DOID:0111110, MONDO:Lexical, OMIM:616329] xref: DOID:0111110 {source="MONDO:equivalentTo"} +xref: GARD:16090 {source="OMIM:616329"} xref: OMIM:616329 {source="MONDO:equivalentTo", source="DOID:0111110"} xref: UMLS:C4225365 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018911 {source="DC-OMIM:616329", source="DOID:0111110", source="MONDO:Redundant"} ! maturity-onset diabetes of the young @@ -292078,6 +301150,7 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014590 name: congenital myasthenic syndrome 18 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16091"} synonym: "CMS18" EXACT ABBREVIATION [DOID:0110683, MONDO:Lexical, OMIM:616330] synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 18" EXACT [DOID:0110683, MONDORULE:2] @@ -292086,6 +301159,7 @@ synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2, OMIM:616330] synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110683 {source="MONDO:equivalentTo"} +xref: GARD:16091 {source="OMIM:616330"} xref: OMIM:616330 {source="MONDO:equivalentTo", source="DOID:0110683"} xref: Orphanet:590 {source="OMIM:616330"} xref: Orphanet:98914 {source="OMIM:616330"} @@ -292102,6 +301176,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014591 name: autosomal dominant Robinow syndrome 2 def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18548"} synonym: "autosomal dominant Robinow syndrome caused by mutation in DVL1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant Robinow syndrome type 2" EXACT [DOID:0060765, MONDORULE:1] synonym: "DRS2" EXACT ABBREVIATION [DOID:0060765, MONDO:Lexical, OMIM:616331] @@ -292109,6 +301184,7 @@ synonym: "DVL1 autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:616331] synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616331] xref: DOID:0060765 {source="MONDO:equivalentTo"} +xref: GARD:18548 {source="OMIM:616331"} xref: ICD10CM:Q87.1 {source="DOID:0060765"} xref: OMIM:616331 {source="DOID:0060765", source="MONDO:equivalentTo"} xref: Orphanet:3107 {source="DOID:0060765", source="OMIM:616331"} @@ -292126,6 +301202,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014592 name: microcephaly and chorioretinopathy 3 def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18482"} synonym: "MCCRP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616335] synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" EXACT [MONDO:design_pattern] synonym: "microcephaly and chorioretinopathy type 3" EXACT [DOID:0080107, MONDORULE:1] @@ -292133,6 +301210,7 @@ synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [M synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1, OMIM:616335] synonym: "TUBGCP4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080107 {source="MONDO:equivalentTo"} +xref: GARD:18482 {source="OMIM:616335"} xref: OMIM:616335 {source="MONDO:equivalentTo", source="DOID:0080107"} xref: Orphanet:2518 {source="OMIM:616335"} xref: UMLS:C4225362 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292146,6 +301224,7 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014593 name: developmental and epileptic encephalopathy, 29 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16092"} synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE29" EXACT ABBREVIATION [OMIM:616339] synonym: "developmental and epileptic encephalopathy 29" EXACT [OMIM:616339, OMIM:genemap2] @@ -292154,6 +301233,7 @@ synonym: "EIEE29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2, OMIM:616339] xref: DOID:0080451 {source="MONDO:equivalentTo"} +xref: GARD:16092 {source="OMIM:616339"} xref: OMIM:616339 {source="MONDO:equivalentTo"} xref: UMLS:C4225361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -292168,6 +301248,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014594 name: autosomal dominant nonsyndromic hearing loss 67 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18141"} synonym: "autosomal dominant deafness 67" NARROW [DOID:0110588] synonym: "autosomal dominant nonsyndromic deafness 67" NARROW [OMIM:616340] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" NARROW [MONDO:design_pattern] @@ -292177,6 +301258,7 @@ synonym: "deafness, autosomal dominant type 67" NARROW [MONDORULE:2, OMIM:616340 synonym: "DFNA67" NARROW ABBREVIATION [DOID:0110588, MONDO:Lexical, OMIM:616340] synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110588 {source="MONDO:equivalentTo"} +xref: GARD:18141 {source="OMIM:616340"} xref: ICD10CM:H90.3 {source="DOID:0110588"} xref: OMIM:616340 {source="DOID:0110588", source="MONDO:equivalentTo"} xref: UMLS:C4084712 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292191,6 +301273,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014595 name: developmental and epileptic encephalopathy, 30 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16093"} synonym: "DEE30" EXACT ABBREVIATION [OMIM:616341] synonym: "developmental and epileptic encephalopathy 30" EXACT [OMIM:616341, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern] @@ -292199,6 +301282,7 @@ synonym: "epileptic encephalopathy, early infantile, 30" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2, OMIM:616341] synonym: "SIK1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080465 {source="MONDO:equivalentTo"} +xref: GARD:16093 {source="OMIM:616341"} xref: OMIM:616341 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="OMIM:616341"} xref: Orphanet:3451 {source="OMIM:616341"} @@ -292245,6 +301329,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014598 name: developmental and epileptic encephalopathy, 31 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16094"} synonym: "DEE31" EXACT ABBREVIATION [OMIM:616346] synonym: "developmental and epileptic encephalopathy 31" EXACT [OMIM:616346, OMIM:genemap2] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -292253,6 +301338,7 @@ synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616346] synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346] synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2, OMIM:616346] xref: DOID:0080437 {source="MONDO:equivalentTo"} +xref: GARD:16094 {source="OMIM:616346"} xref: OMIM:616346 {source="MONDO:equivalentTo"} xref: Orphanet:2382 {source="OMIM:616346"} xref: UMLS:C4225357 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292294,6 +301380,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014600 name: dyskeratosis congenita, autosomal recessive 6 def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16095"} synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [DOID:0070024] synonym: "DKCB6" EXACT ABBREVIATION [DOID:0070024, MONDO:Lexical, OMIM:616353] synonym: "dyskeratosis congenita caused by mutation in PARN" EXACT [MONDO:design_pattern] @@ -292301,6 +301388,7 @@ synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, O synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:616353] synonym: "PARN dyskeratosis congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070024 {source="MONDO:equivalentTo"} +xref: GARD:16095 {source="OMIM:616353"} xref: NCIT:C176929 {source="MONDO:equivalentTo"} xref: OMIM:616353 {source="DOID:0070024", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:616353"} @@ -292316,6 +301404,7 @@ property_value: confidence "0.8958333333333335" xsd:double id: MONDO:0014601 name: autosomal recessive spinocerebellar ataxia 20 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17636"} subset: ordo_malformation_syndrome {source="Orphanet:397709"} synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709] @@ -292326,6 +301415,7 @@ synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_patte synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354] synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354] xref: DOID:0080066 {source="MONDO:equivalentTo"} +xref: GARD:17636 {source="Orphanet:397709"} xref: ICD10CM:Q87.8 {source="Orphanet:397709", source="Orphanet:397709/attributed", source="Orphanet:397709/ntbt"} xref: OMIM:616354 {source="Orphanet:397709", source="DOID:0080066", source="MONDO:equivalentTo", source="Orphanet:397709/e"} xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"} @@ -292346,6 +301436,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014602 name: intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." [DOID:0070065] +subset: gard_rare {source="GARD:17802"} subset: ordo_malformation_syndrome {source="Orphanet:457279"} synonym: "autosomal dominant intellectual disability 35" EXACT [DOID:0070065] synonym: "autosomal dominant mental retardation 35" EXACT DEPRECATED [DOID:0070065] @@ -292356,6 +301447,7 @@ synonym: "mental retardation, autosomal dominant 35" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 35" EXACT DEPRECATED [MONDORULE:2, OMIM:616355] synonym: "MRD35" EXACT ABBREVIATION [DOID:0070065, MONDO:Lexical, OMIM:616355] xref: DOID:0070065 {source="MONDO:equivalentTo"} +xref: GARD:17802 {source="Orphanet:457279"} xref: OMIM:616355 {source="DOID:0070065", source="Orphanet:457279", source="MONDO:equivalentTo", source="Orphanet:457279/e"} xref: Orphanet:457279 {source="MONDO:equivalentTo"} xref: UMLS:C4225354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292372,6 +301464,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014603 name: autosomal dominant nonsyndromic hearing loss 40 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18142"} synonym: "autosomal dominant deafness 40" NARROW [DOID:0110566] synonym: "autosomal dominant nonsyndromic deafness 40" NARROW CLINGEN_PREFERRED [OMIM:616357] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" NARROW [MONDO:design_pattern] @@ -292381,6 +301474,7 @@ synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357, O synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2, OMIM:616357] synonym: "DFNA40" NARROW ABBREVIATION [DOID:0110566, MONDO:Lexical, OMIM:616357] xref: DOID:0110566 {source="MONDO:equivalentTo"} +xref: GARD:18142 {source="OMIM:616357"} xref: ICD10CM:H90.3 {source="DOID:0110566"} xref: OMIM:616357 {source="DOID:0110566", source="MONDO:equivalentTo"} xref: UMLS:C4084708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292395,12 +301489,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014604 name: Parkinson disease 21 def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18480"} synonym: "DNAJC13 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in DNAJC13" EXACT [MONDO:design_pattern] synonym: "PARK21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616361] synonym: "Parkinson disease 21" EXACT [MONDO:Lexical, OMIM:616361] synonym: "Parkinson disease type 21" EXACT [MONDORULE:2, OMIM:616361] xref: DOID:0111251 {source="MONDO:equivalentTo"} +xref: GARD:18480 {source="OMIM:616361"} xref: OMIM:616361 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:616361"} xref: UMLS:C4225353 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292415,6 +301511,7 @@ property_value: confidence "0.3096492687679333" xsd:double [Term] id: MONDO:0014605 name: microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17803"} subset: ordo_malformation_syndrome {source="Orphanet:457284"} synonym: "autosomal dominant intellectual disability 36" EXACT [DOID:0070066] synonym: "autosomal dominant mental retardation 36" EXACT DEPRECATED [DOID:0070066] @@ -292425,6 +301522,7 @@ synonym: "mental retardation, autosomal dominant 36" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:616362] synonym: "MRD36" EXACT ABBREVIATION [DOID:0070066, MONDO:Lexical, OMIM:616362] xref: DOID:0070066 {source="MONDO:equivalentTo"} +xref: GARD:17803 {source="Orphanet:457284"} xref: OMIM:616362 {source="Orphanet:457284/e", source="DOID:0070066", source="MONDO:equivalentTo", source="Orphanet:457284"} xref: Orphanet:457284 {source="MONDO:equivalentTo"} xref: UMLS:C4225352 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -292441,6 +301539,7 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014606 name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678] +subset: gard_rare {source="GARD:13774"} subset: ordo_disease {source="Orphanet:468678"} synonym: "autosomal dominant intellectual disability 37" EXACT [DOID:0070067] synonym: "autosomal dominant mental retardation 37" EXACT DEPRECATED [DOID:0070067] @@ -292455,6 +301554,7 @@ synonym: "White-Sutton syndrome" RELATED [DOID:0070067, OMIM:616364] synonym: "WHSUS" EXACT ABBREVIATION [DOID:0070067] xref: DOID:0070067 {source="MONDO:equivalentTo"} xref: EFO:0009079 {source="MONDO:equivalentTo"} +xref: GARD:13774 {source="Orphanet:468678"} xref: OMIM:616364 {source="DOID:0070067", source="Orphanet:468678", source="MONDO:equivalentTo"} xref: Orphanet:468678 {source="MONDO:equivalentTo"} xref: UMLS:C4225351 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -292472,6 +301572,7 @@ id: MONDO:0014607 name: developmental and epileptic encephalopathy, 32 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +subset: gard_rare {source="GARD:16096"} synonym: "DEE32" EXACT ABBREVIATION [] synonym: "developmental and epileptic encephalopathy 32" EXACT [OMIM:616366, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNA2" EXACT [MONDO:design_pattern] @@ -292480,6 +301581,7 @@ synonym: "epileptic encephalopathy, early infantile, 32" EXACT [MONDO:Lexical, O synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2, OMIM:616366] synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080416 {source="MONDO:equivalentTo"} +xref: GARD:16096 {source="OMIM:616366"} xref: OMIM:616366 {source="MONDO:equivalentTo"} xref: UMLS:C4225350 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -292494,10 +301596,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014608 name: mandibulofacial dysostosis with alopecia def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [DOID:0060365, PMID:25772936] +subset: gard_rare {source="GARD:17758"} subset: ordo_malformation_syndrome {source="Orphanet:443995"} synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367] synonym: "MFDA" EXACT ABBREVIATION [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995] xref: DOID:0060365 {source="MONDO:equivalentTo"} +xref: GARD:17758 {source="Orphanet:443995"} xref: ICD10CM:Q75.4 {source="Orphanet:443995/attributed", source="Orphanet:443995/ntbt", source="Orphanet:443995"} xref: OMIM:616367 {source="DOID:0060365", source="Orphanet:443995", source="MONDO:equivalentTo", source="Orphanet:443995/e"} xref: Orphanet:443995 {source="MONDO:equivalentTo"} @@ -292515,11 +301619,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014609 name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +subset: gard_rare {source="GARD:12845"} subset: ordo_malformation_syndrome {source="Orphanet:444077"} synonym: "CHOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616368] synonym: "CHOPS syndrome" EXACT [MONDO:Lexical, OMIM:616368, Orphanet:444077] synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [OMIM:616368] xref: EFO:0009031 {source="MONDO:equivalentTo"} +xref: GARD:12845 {source="Orphanet:444077"} xref: ICD10CM:Q87.8 {source="Orphanet:444077/attributed", source="Orphanet:444077/ntbt", source="Orphanet:444077"} xref: OMIM:616368 {source="Orphanet:444077/e", source="MONDO:equivalentTo", source="Orphanet:444077"} xref: Orphanet:444077 {source="MONDO:equivalentTo"} @@ -292551,6 +301657,7 @@ replaced_by: MONDO:0009477 id: MONDO:0014611 name: multiple mitochondrial dysfunctions syndrome 4 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17809"} subset: ordo_disease {source="Orphanet:457406"} synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern] synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -292558,6 +301665,7 @@ synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370] xref: DOID:0080136 {source="MONDO:equivalentTo"} +xref: GARD:17809 {source="Orphanet:457406"} xref: OMIM:616370 {source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406", source="Orphanet:457406/e"} xref: Orphanet:457406 {source="MONDO:equivalentTo"} xref: UMLS:C4225348 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292573,12 +301681,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014612 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16097"} synonym: "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PFBMFT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616371] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4" RELATED [OMIM:616371] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical, OMIM:616371] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" EXACT [MONDORULE:1, OMIM:616371] +xref: GARD:16097 {source="OMIM:616371"} xref: OMIM:616371 {source="MONDO:equivalentTo"} xref: Orphanet:2032 {source="OMIM:616371"} xref: UMLS:C4225347 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292593,12 +301703,14 @@ property_value: confidence "0.5823588235294124" xsd:double id: MONDO:0014613 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16098"} synonym: "PFBMFT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616373] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3" RELATED [OMIM:616373] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical, OMIM:616373] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" EXACT [MONDORULE:1, OMIM:616373] synonym: "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16098 {source="OMIM:616373"} xref: OMIM:616373 {source="MONDO:equivalentTo"} xref: Orphanet:2032 {source="OMIM:616373"} xref: UMLS:C4225346 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292613,10 +301725,12 @@ property_value: confidence "0.5823588235294124" xsd:double id: MONDO:0014614 name: congenital stationary night blindness 1G def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110714, PMID:22190596] +subset: gard_rare {source="GARD:16099"} synonym: "congenital stationary night blindness type 1G" EXACT [DOID:0110714, MONDORULE:4] synonym: "CSNB1G" EXACT ABBREVIATION [DOID:0110714, MONDO:Lexical, OMIM:616389] synonym: "night blindness, congenital stationary, type 1G" RELATED [MONDO:Lexical, OMIM:616389] xref: DOID:0110714 {source="MONDO:equivalentTo"} +xref: GARD:16099 {source="OMIM:616389"} xref: OMIM:616389 {source="DOID:0110714", source="MONDO:equivalentTo"} xref: Orphanet:215 {source="OMIM:616389"} xref: UMLS:C4225345 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292631,9 +301745,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014615 name: trichothiodystrophy 2, photosensitive +subset: gard_rare {source="GARD:16100"} synonym: "trichothiodystrophy 2, photosensitive" EXACT [MONDO:Lexical, OMIM:616390] synonym: "TTD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616390] xref: DOID:0111869 {source="MONDO:equivalentTo"} +xref: GARD:16100 {source="OMIM:616390"} xref: NCIT:C173103 {source="MONDO:equivalentTo"} xref: OMIM:616390 {source="MONDO:equivalentTo"} xref: UMLS:C4225344 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292663,6 +301779,7 @@ is_obsolete: true id: MONDO:0014617 name: intellectual disability, autosomal dominant 38 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16469"} synonym: "autosomal dominant intellectual disability 38" EXACT [DOID:0070068] synonym: "autosomal dominant mental retardation 38" EXACT DEPRECATED [DOID:0070068] synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [DOID:0070068] @@ -292676,6 +301793,7 @@ synonym: "MRD38" EXACT ABBREVIATION [DOID:0070068, MONDO:Lexical, OMIM:616393] synonym: "PRELDS" EXACT ABBREVIATION [DOID:0070068] synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [DOID:0070068, OMIM:616393] xref: DOID:0070068 {source="MONDO:equivalentTo"} +xref: GARD:16469 {source="OMIM:616393"} xref: OMIM:616393 {source="DOID:0070068", source="MONDO:equivalentTo"} xref: UMLS:C4225343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616393"} ! intellectual disability, autosomal dominant @@ -292689,12 +301807,14 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0014618 name: retinitis pigmentosa 71 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16101"} synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394] synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394] synonym: "RP71" EXACT ABBREVIATION [DOID:0110363, MONDO:Lexical, OMIM:616394] xref: DOID:0110363 {source="MONDO:equivalentTo"} +xref: GARD:16101 {source="OMIM:616394"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110363"} xref: OMIM:616394 {source="MONDO:equivalentTo", source="DOID:0110363"} xref: UMLS:C4225342 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292706,10 +301826,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014619 name: trichothiodystrophy 3, photosensitive +subset: gard_rare {source="GARD:16102"} synonym: "trichothiodystrophy 3, photosensitive" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616395] synonym: "trichothiodystrophy, complementation group A" RELATED [OMIM:616395] synonym: "TTD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616395] xref: DOID:0111871 {source="MONDO:equivalentTo"} +xref: GARD:16102 {source="OMIM:616395"} xref: NCIT:C173099 {source="MONDO:equivalentTo"} xref: OMIM:616395 {source="MONDO:equivalentTo"} xref: UMLS:C4017171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292724,12 +301846,14 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0014620 name: myoclonic dystonia 26 def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16103"} synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398] synonym: "DYT26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616398] synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2] synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern] xref: DOID:0090036 {source="MONDO:equivalentTo"} +xref: GARD:16103 {source="OMIM:616398"} xref: OMIM:616398 {source="DOID:0090036", source="MONDO:equivalentTo"} xref: UMLS:C4225341 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000903 {source="DOID:0090036", source="MONDO:Redundant"} ! myoclonus-dystonia syndrome @@ -292743,12 +301867,14 @@ property_value: confidence "0.14285714285714324" xsd:double id: MONDO:0014621 name: Brugada syndrome 9 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16104"} synonym: "BRGDA9" EXACT ABBREVIATION [DOID:0110226, MONDO:Lexical, OMIM:616399] synonym: "Brugada syndrome 9" EXACT [MONDO:Lexical, OMIM:616399] synonym: "Brugada syndrome caused by mutation in KCND3" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 9" EXACT [DOID:0110226, MONDORULE:1, OMIM:616399] synonym: "KCND3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110226 {source="MONDO:equivalentTo"} +xref: GARD:16104 {source="OMIM:616399"} xref: ICD10CM:I49.8 {source="DOID:0110226"} xref: OMIM:616399 {source="DOID:0110226", source="MONDO:equivalentTo"} xref: Orphanet:130 {source="OMIM:616399"} @@ -292761,12 +301887,15 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014622 name: isolated focal non-epidermolytic palmoplantar keratoderma +subset: gard_rare {source="GARD:17781", source="GARD:18488"} subset: ordo_disease {source="Orphanet:448264"} synonym: "FNEPPK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616400] synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical, OMIM:616400] synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1, OMIM:616400] xref: DOID:0111708 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111711 {source="MONDO:equivalentTo"} +xref: GARD:17781 {source="Orphanet:448264"} +xref: GARD:18488 {source="OMIM:616400"} xref: OMIM:616400 {source="Orphanet:448264/e", source="MONDO:equivalentTo", source="Orphanet:448264"} xref: Orphanet:448264 {source="MONDO:equivalentTo"} xref: UMLS:C4225339 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292783,11 +301912,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014623 name: microcephaly 14, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16105"} synonym: "autosomal recessive primary microcephaly caused by mutation in SASS6" EXACT [MONDO:design_pattern] synonym: "MCPH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616402] synonym: "microcephaly 14, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616402] synonym: "SASS6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070279 {source="MONDO:equivalentTo"} +xref: GARD:16105 {source="OMIM:616402"} xref: OMIM:616402 {source="MONDO:equivalentTo"} xref: UMLS:C4225338 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0016660 {source="DC-OMIM:616402", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly @@ -292822,6 +301953,7 @@ is_a: MONDO:0004753 {source="DOID:10235"} ! mechanical strabismus id: MONDO:0014625 name: developmental and epileptic encephalopathy, 33 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16106"} synonym: "DEE33" EXACT ABBREVIATION [OMIM:616366] synonym: "developmental and epileptic encephalopathy 33" EXACT [OMIM:616409, OMIM:genemap2] synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] @@ -292830,6 +301962,7 @@ synonym: "EIEE33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616409] synonym: "epileptic encephalopathy, early infantile, 33" EXACT [MONDO:Lexical, OMIM:616409] synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2, OMIM:616409] xref: DOID:0080463 {source="MONDO:equivalentTo"} +xref: GARD:16106 {source="OMIM:616409"} xref: OMIM:616409 {source="MONDO:equivalentTo"} xref: UMLS:C4225337 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy @@ -292844,12 +301977,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014626 name: spinocerebellar ataxia type 41 def: "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." [Orphanet:458798] +subset: gard_rare {source="GARD:17810"} subset: ordo_disease {source="Orphanet:458798"} synonym: "SCA41" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616410, Orphanet:458798] synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical, OMIM:616410] synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, OMIM:616410] xref: DOID:0111744 {source="MONDO:equivalentTo"} xref: EFO:0009058 {source="MONDO:equivalentTo"} +xref: GARD:17810 {source="Orphanet:458798"} xref: ICD10CM:G11.2 {source="Orphanet:458798", source="Orphanet:458798/attributed", source="Orphanet:458798/ntbt"} xref: OMIM:616410 {source="Orphanet:458798", source="MONDO:equivalentTo", source="Orphanet:458798/e"} xref: Orphanet:458798 {source="MONDO:equivalentTo"} @@ -292862,6 +301997,7 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014627 name: dystonia 27 def: "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17819"} subset: ordo_disease {source="Orphanet:464440"} synonym: "COL6A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystonia 27" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616411] @@ -292870,6 +302006,7 @@ synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pa synonym: "DYT27" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616411] synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440] xref: DOID:0090050 {source="MONDO:equivalentTo"} +xref: GARD:17819 {source="Orphanet:464440"} xref: ICD10CM:G24.1 {source="Orphanet:464440", source="Orphanet:464440/attributed", source="Orphanet:464440/ntbt", source="DOID:0090050"} xref: OMIM:616411 {source="Orphanet:464440", source="MONDO:equivalentTo", source="Orphanet:464440/e", source="DOID:0090050"} xref: Orphanet:464440 {source="MONDO:equivalentTo", source="DOID:0090050"} @@ -292886,11 +302023,13 @@ property_value: confidence "2.0" xsd:double id: MONDO:0014628 name: basal ganglia calcification, idiopathic, 6 def: "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16107"} synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413] synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413] synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern] synonym: "IBGC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616413] synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16107 {source="OMIM:616413"} xref: OMIM:616413 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="OMIM:616413"} xref: UMLS:C4225335 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292906,12 +302045,14 @@ id: MONDO:0014629 name: autoimmune interstitial lung disease-arthritis syndrome def: "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." [Orphanet:444092] comment: Editor note: check relationship to RA-ILD +subset: gard_rare {source="GARD:17762"} subset: ordo_disease {source="Orphanet:444092"} synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616414] synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414] synonym: "copa defect" EXACT [Orphanet:444092] synonym: "copa syndrome" EXACT [Orphanet:444092] xref: DOID:0081242 {source="MONDO:equivalentTo"} +xref: GARD:17762 {source="Orphanet:444092"} xref: ICD10CM:J84.8 {source="Orphanet:444092", source="Orphanet:444092/attributed", source="Orphanet:444092/ntbt"} xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="Orphanet:444092/e"} xref: Orphanet:444092 {source="MONDO:equivalentTo"} @@ -292927,6 +302068,7 @@ property_value: confidence "2.6923076923076925" xsd:double [Term] id: MONDO:0014630 name: familial adenomatous polyposis 3 +subset: gard_rare {source="GARD:17790"} subset: ordo_clinical_subtype {source="Orphanet:454840"} synonym: "familial adenomatous polyposis 3" EXACT [MONDO:Lexical, OMIM:616415] synonym: "familial adenomatous polyposis type 3" EXACT [MONDORULE:1, OMIM:616415] @@ -292935,6 +302077,7 @@ synonym: "NTHL1-related AFAP" EXACT [Orphanet:454840] synonym: "NTHL1-related attenuated familial adenomatous polyposis" EXACT CLINGEN_PREFERRED [Orphanet:454840] synonym: "NTHL1-related attenuated FAP" EXACT [Orphanet:454840] xref: DOID:0080411 {source="MONDO:equivalentTo"} +xref: GARD:17790 {source="Orphanet:454840"} xref: ICD10CM:D12.6 {source="Orphanet:454840", source="Orphanet:454840/attributed", source="Orphanet:454840/ntbt"} xref: OMIM:616415 {source="Orphanet:454840", source="MONDO:equivalentTo", source="Orphanet:454840/e"} xref: Orphanet:454840 {source="MONDO:equivalentTo"} @@ -292979,9 +302122,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014633 name: myoclonic-atonic epilepsy +subset: gard_rare {source="GARD:16108"} synonym: "mae" RELATED [MONDO:Lexical, OMIM:616421] synonym: "myoclonic-atonic epilepsy" EXACT [MONDO:Lexical, OMIM:616421] xref: DOID:0060475 {source="MONDO:equivalentTo"} +xref: GARD:16108 {source="OMIM:616421"} xref: OMIM:616421 {source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="OMIM:616421"} xref: UMLS:C4085238 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -292992,6 +302137,7 @@ property_value: confidence "6.200000000000001" xsd:double [Term] id: MONDO:0014634 name: 46,XY sex reversal 10 +subset: gard_rare {source="GARD:16109"} synonym: "46,XY SEX reversal 10" RELATED [OMIM:616425] synonym: "46,XY sex reversal 10" EXACT [MONDO:Lexical, OMIM:616425] synonym: "46,XY Sex reversal type 10" EXACT [MONDORULE:2, OMIM:616425] @@ -292999,6 +302145,7 @@ synonym: "46XY sex reversal 10" EXACT [OMIM:616425, OMIM:genemap2] synonym: "chromosome 17Q24 deletion syndrome" RELATED [OMIM:616425] synonym: "SRXY10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616425] xref: DOID:0111775 {source="MONDO:equivalentTo"} +xref: GARD:16109 {source="OMIM:616425"} xref: OMIM:616425 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:616425"} xref: Orphanet:251510 {source="OMIM:616425"} @@ -293013,11 +302160,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014635 name: microphthalmia, isolated, with coloboma 10 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16110"} synonym: "MCOPCB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616428] synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical, OMIM:616428] synonym: "microphthalmia, isolated, with coloboma caused by mutation in RBP4" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2, OMIM:616428] synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:16110 {source="OMIM:616428"} xref: OMIM:616428 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:616428"} xref: UMLS:C4225330 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -293031,6 +302180,7 @@ property_value: confidence "0.8448594714285722" xsd:double id: MONDO:0014636 name: combined oxidative phosphorylation defect type 25 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17775"} subset: ordo_disease {source="Orphanet:447954"} synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical, OMIM:616430] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MARS2" EXACT [MONDO:design_pattern] @@ -293039,6 +302189,7 @@ synonym: "COXPD25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616430, Orphanet:4479 synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111468 {source="MONDO:equivalentTo"} xref: EFO:0009035 {source="MONDO:equivalentTo"} +xref: GARD:17775 {source="Orphanet:447954"} xref: ICD10CM:E88.8 {source="Orphanet:447954", source="Orphanet:447954/attributed", source="Orphanet:447954/ntbt"} xref: OMIM:616430 {source="Orphanet:447954", source="MONDO:equivalentTo", source="Orphanet:447954/e"} xref: Orphanet:447954 {source="MONDO:equivalentTo"} @@ -293053,12 +302204,13 @@ property_value: confidence "2.846153846153847" xsd:double [Term] id: MONDO:0014637 name: DOCK2 deficiency -subset: gard_rare {source="GARD:0012653"} +subset: gard_rare {source="GARD:12653"} subset: ordo_disease {source="Orphanet:447737"} synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433] xref: DOID:0111951 {source="MONDO:equivalentTo"} +xref: GARD:12653 {source="Orphanet:447737"} xref: ICD10CM:D81.8 {source="Orphanet:447737", source="Orphanet:447737/attributed", source="Orphanet:447737/ntbt"} xref: OMIM:616433 {source="MONDO:equivalentTo", source="Orphanet:447737", source="Orphanet:447737/e"} xref: Orphanet:447737 {source="MONDO:equivalentTo"} @@ -293073,6 +302225,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12653/dock2- id: MONDO:0014638 name: Fanconi anemia complementation group T def: "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16111"} synonym: "Fanconi anaemia caused by mutation in UBE2T" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type T" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern] @@ -293083,6 +302236,7 @@ synonym: "FANCT" EXACT ABBREVIATION [DOID:0111081, MONDO:Lexical, OMIM:616435] synonym: "UBE2T Fanconi anaemia" EXACT OMO:0003005 [] synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111081 {source="MONDO:equivalentTo"} +xref: GARD:16111 {source="OMIM:616435"} xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"} xref: UMLS:C4084840 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019391 {source="DC-OMIM:616435", source="DOID:0111081", source="MONDO:Redundant", source="OMIM:616435"} ! Fanconi anemia @@ -293095,11 +302249,13 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0014639 name: familial temporal lobe epilepsy 7 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." [DOID:0060751, PMID:26046367] +subset: gard_rare {source="GARD:16112"} synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical, OMIM:616436] synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1, OMIM:616436] synonym: "ETL7" EXACT ABBREVIATION [DOID:0060751, MONDO:Lexical, OMIM:616436] synonym: "familial temporal lobe epilepsy type 7" EXACT [DOID:0060751, MONDORULE:1] xref: DOID:0060751 {source="MONDO:equivalentTo"} +xref: GARD:16112 {source="OMIM:616436"} xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="OMIM:616436", source="DOID:0060751"} xref: UMLS:C4225327 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -293111,10 +302267,12 @@ property_value: confidence "5.0" xsd:double id: MONDO:0014640 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3 def: "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." [DOID:0110068, PMID:22084127] +subset: gard_rare {source="GARD:16113"} synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" EXACT [DOID:0110068, MONDO:Lexical, OMIM:616437] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3" EXACT [MONDORULE:1, OMIM:616437] synonym: "FTDALS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616437] xref: DOID:0110068 {source="MONDO:equivalentTo"} +xref: GARD:16113 {source="OMIM:616437"} xref: OMIM:616437 {source="MONDO:equivalentTo", source="DOID:0110068"} xref: Orphanet:275864 {source="OMIM:616437"} xref: Orphanet:275872 {source="OMIM:616437"} @@ -293131,10 +302289,12 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0014641 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." [DOID:0110069, PMID:25700176] +subset: gard_rare {source="GARD:18398"} synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" EXACT [DOID:0110069, MONDO:Lexical, OMIM:616439] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1, OMIM:616439] synonym: "FTDALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616439] xref: DOID:0110069 {source="MONDO:equivalentTo"} +xref: GARD:18398 {source="OMIM:616439"} xref: OMIM:616439 {source="MONDO:equivalentTo", source="DOID:0110069"} xref: Orphanet:275872 {source="OMIM:616439"} xref: UMLS:C4225325 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -293148,11 +302308,13 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0014642 name: candidiasis, familial, 9 def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16114"} synonym: "CANDF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616445] synonym: "candidiasis, familial, 9" EXACT [MONDO:Lexical, OMIM:616445] synonym: "candidiasis, familial, type 9" EXACT [MONDORULE:1, OMIM:616445] synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC" EXACT [] synonym: "IL17RC chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:16114 {source="OMIM:616445"} xref: OMIM:616445 {source="MONDO:equivalentTo"} xref: UMLS:C4225324 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015279 {source="OMIM:616445"} ! chronic mucocutaneous candidiasis @@ -293164,10 +302326,12 @@ property_value: confidence "2.323076923076922" xsd:double [Term] id: MONDO:0014643 name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +subset: gard_rare {source="GARD:17821"} subset: ordo_malformation_syndrome {source="Orphanet:464738"} synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [OMIM:616449, OMIM:genemap2] synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449] synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616449] +xref: GARD:17821 {source="Orphanet:464738"} xref: OMIM:616449 {source="Orphanet:464738/e", source="MONDO:equivalentTo", source="Orphanet:464738"} xref: Orphanet:464738 {source="MONDO:equivalentTo"} xref: UMLS:C4225323 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -293185,6 +302349,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014644 name: hereditary spastic paraplegia 74 def: "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." [Orphanet:468661] +subset: gard_rare {source="GARD:17842"} subset: ordo_disease {source="Orphanet:468661"} synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819] synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661] @@ -293194,6 +302359,7 @@ synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MOND synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451] synonym: "SPG74" EXACT ABBREVIATION [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661] xref: DOID:0110819 {source="MONDO:equivalentTo"} +xref: GARD:17842 {source="Orphanet:468661"} xref: OMIM:616451 {source="MONDO:equivalentTo", source="DOID:0110819", source="Orphanet:468661"} xref: Orphanet:468661 {source="MONDO:equivalentTo", source="DOID:0110819"} xref: UMLS:C4225322 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -293209,11 +302375,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014645 name: BENTA disease def: "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." [Orphanet:182090, PMID:30545973] subset: disease_grouping +subset: gard_rare {source="GARD:7501"} subset: ordo_group_of_disorders {source="Orphanet:182090"} synonym: "idiopathic pulmonary hypertension" RELATED [GARD:0007501] synonym: "PAH" EXACT ABBREVIATION [Orphanet:182090] @@ -314911,6 +326089,7 @@ synonym: "PAH with overt features of venous/capillaries involvement" NARROW [PMI synonym: "PPH" RELATED ABBREVIATION [GARD:0007501] synonym: "pulmonary arterial hypertension" EXACT CLINGEN_PREFERRED [] synonym: "PVOD/PCH" NARROW ABBREVIATION [PMID:30545973] +xref: GARD:7501 {source="Orphanet:182090"} xref: MedDRA:10064911 {source="Orphanet:182090/e", source="Orphanet:182090"} xref: MESH:C536282 {source="Orphanet:182090/e", source="Orphanet:182090"} xref: MESH:D000081029 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -314930,11 +326109,13 @@ id: MONDO:0015925 name: interstitial lung disease def: "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." [MESH:D017563] subset: disease_grouping +subset: gard_rare {source="GARD:20244"} subset: ordo_group_of_disorders {source="Orphanet:182095"} synonym: "ILD" EXACT ABBREVIATION [DOID:3082, Orphanet:182095] synonym: "interstitial lung disease" EXACT [MONDO:0005370] xref: DOID:3082 {source="EFO:0004244", source="MONDO:equivalentTo"} xref: EFO:0004244 {source="MONDO:equivalentTo"} +xref: GARD:20244 {source="Orphanet:182095"} xref: ICD10CM:J80-J84 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:J84.9 {source="DOID:3082"} xref: MedDRA:10022611 {source="Orphanet:182095", source="Orphanet:182095/e"} @@ -314954,10 +326135,12 @@ id: MONDO:0015926 name: pneumoconiosis def: "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis." [NCIT:C26861] subset: disease_grouping +subset: gard_rare {source="GARD:20245"} subset: ordo_group_of_disorders {source="Orphanet:182098"} synonym: "Black lung disease" RELATED [GARD:0008356] synonym: "coal worker's pneumoconiosis" RELATED [GARD:0008356] xref: DOID:10316 {source="MONDO:equivalentTo"} +xref: GARD:20245 {source="Orphanet:182098"} xref: ICD10CM:J64 {source="DOID:10316"} xref: ICD9:505 {source="DOID:10316", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035653 {source="Orphanet:182098", source="Orphanet:182098/e"} @@ -314980,7 +326163,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015927 name: idiopathic eosinophilic pneumonia subset: disease_grouping +subset: gard_rare {source="GARD:20246"} subset: ordo_group_of_disorders {source="Orphanet:182101"} +xref: GARD:20246 {source="Orphanet:182101"} xref: ICD10CM:J82 {source="Orphanet:182101", source="Orphanet:182101/ntbt"} xref: Orphanet:182101 {source="MONDO:equivalentTo"} xref: SCTID:708031000 {source="MONDO:equivalentTo"} @@ -314992,9 +326177,11 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0015928 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20247"} subset: ordo_group_of_disorders {source="Orphanet:182104"} synonym: "CTD-ILD" EXACT [Orphanet:182104] synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [Orphanet:182104] +xref: GARD:20247 {source="MONDO:obsoleteEquivalent", source="Orphanet:182104"} xref: Orphanet:182104 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200522 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -315006,7 +326193,9 @@ consider: MONDO:0015925 id: MONDO:0015929 name: thoracic malformation subset: disease_grouping +subset: gard_rare {source="GARD:20248"} subset: ordo_group_of_disorders {source="Orphanet:182108"} +xref: GARD:20248 {source="Orphanet:182108"} xref: Orphanet:182108 {source="MONDO:equivalentTo"} is_a: MONDO:0020001 {source="Orphanet:182108"} ! respiratory or thoracic malformation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -315014,6 +326203,8 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0015930 name: obsolete respiratory malformation +subset: gard_rare {source="GARD:20249"} +xref: GARD:20249 {source="MONDO:obsoleteEquivalent", source="Orphanet:182111"} xref: Orphanet:182111 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -315024,7 +326215,9 @@ is_obsolete: true id: MONDO:0015931 name: obsolete rare urogenital tumor subset: disease_grouping +subset: gard_rare {source="GARD:20250"} subset: ordo_group_of_disorders {source="Orphanet:182114"} +xref: GARD:20250 {source="MONDO:obsoleteEquivalent", source="Orphanet:182114"} xref: Orphanet:182114 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200523 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315035,10 +326228,12 @@ replaced_by: MONDO:0005070 id: MONDO:0015932 name: obsolete non-syndromic urogenital tract malformation of female def: "OBSOLETE. A non-syndromic urogenital tract malformation that involves the female organism." [MONDO:design_pattern] +subset: gard_rare {source="GARD:20251"} synonym: "female organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "isolated urogenital tract malformation of female" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic urogenital tract malformation of female organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of female" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:20251 {source="MONDO:obsoleteEquivalent", source="Orphanet:182117"} xref: Orphanet:182117 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -315050,10 +326245,12 @@ is_obsolete: true id: MONDO:0015933 name: obsolete non-syndromic urogenital tract malformation of male def: "OBSOLETE. A non-syndromic urogenital tract malformation that involves the male organism." [MONDO:design_pattern] +subset: gard_rare {source="GARD:20252"} synonym: "isolated urogenital tract malformation of male" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "male organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic urogenital tract malformation of male organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of male" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:20252 {source="MONDO:obsoleteEquivalent", source="Orphanet:182121"} xref: Orphanet:182121 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -315064,9 +326261,11 @@ is_obsolete: true [Term] id: MONDO:0015934 name: obsolete non-syndromic urogenital tract malformation of male and female +subset: gard_rare {source="GARD:20253"} subset: ordo_group_of_disorders {source="Orphanet:182124"} synonym: "isolated urogenital tract malformation of male and female" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic urogenital tract malformation of male and female" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:20253 {source="MONDO:obsoleteEquivalent", source="Orphanet:182124"} xref: Orphanet:182124 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI @@ -315075,7 +326274,9 @@ is_obsolete: true [Term] id: MONDO:0015935 name: extragonadal germinoma +subset: gard_rare {source="GARD:2005"} subset: ordo_disease {source="Orphanet:182127"} +xref: GARD:2005 {source="Orphanet:182127"} xref: MedDRA:10018207 {source="Orphanet:182127/e", source="Orphanet:182127"} xref: MESH:D018237 {source="Orphanet:182127/e", source="MONDO:relatedTo", source="Orphanet:182127"} xref: Orphanet:182127 {source="MONDO:equivalentTo"} @@ -315089,9 +326290,11 @@ id: MONDO:0015936 name: obsolete rare tumor of endocrine glands def: "OBSOLETE. A rare tumor that involves the endocrine gland." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:20254"} subset: ordo_group_of_disorders {source="Orphanet:182130"} synonym: "endocrine gland rare tumor" EXACT [MONDO:patterns/location] synonym: "tumor of endocrine glands" RELATED [Orphanet:182130] +xref: GARD:20254 {source="MONDO:obsoleteEquivalent", source="Orphanet:182130"} xref: MedDRA:10061121 {source="Orphanet:182130", source="Orphanet:182130/e"} xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0014132 {source="Orphanet:182130", source="Orphanet:182130/e"} @@ -315126,8 +326329,10 @@ name: obsolete systemic autoimmune disease def: "OBSOLETE. An autoimmune form of systemic disease." [MONDO:patterns/autoimmune] comment: This is a grouping class that is considered out of scope. subset: disease_grouping +subset: gard_rare {source="GARD:20256"} subset: ordo_group_of_disorders {source="Orphanet:182228"} synonym: "autoimmune systemic disease" EXACT [] +xref: GARD:20256 {source="MONDO:obsoleteEquivalent", source="Orphanet:182228"} xref: Orphanet:182228 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200529 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -315140,9 +326345,11 @@ id: MONDO:0015940 name: obsolete rare rheumatologic disease def: "OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:20257"} subset: ordo_group_of_disorders {source="Orphanet:182231"} synonym: "rare rheumatologic disorder" EXACT [MONDO:cjm, MONDO:patterns/rare] synonym: "rare rheumatological disease" EXACT [MONDO:cjm] +xref: GARD:20257 {source="MONDO:obsoleteEquivalent", source="Orphanet:182231"} xref: Orphanet:182231 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200530 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315153,11 +326360,12 @@ replaced_by: MONDO:0005554 id: MONDO:0015941 name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome def: "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." [Orphanet:1825] -subset: gard_rare +subset: gard_rare {source="GARD:2178"} subset: ordo_malformation_syndrome {source="Orphanet:1825"} synonym: "epiphyseal dysplasia hearing loss dysmorphism" RELATED [GARD:0002178] synonym: "Finucane Kurtz Scott syndrome" RELATED [GARD:0002178] synonym: "Finucane-Kurtz-Scott syndrome" EXACT [Orphanet:1825] +xref: GARD:2178 {source="Orphanet:1825"} xref: ICD10CM:Q87.0 {source="Orphanet:1825/attributed", source="Orphanet:1825/ntbt", source="Orphanet:1825"} xref: Orphanet:1825 {source="GARD:0002178", source="MONDO:equivalentTo"} xref: SCTID:766870005 {source="MONDO:equivalentTo"} @@ -315173,11 +326381,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2178/epiphys id: MONDO:0015942 name: frontometaphyseal dysplasia def: "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." [Orphanet:1826] +subset: gard_rare {source="GARD:826"} subset: ordo_disease {source="Orphanet:1826"} subset: prototype_pattern synonym: "FMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305620] synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620] xref: DOID:0111785 {source="MONDO:equivalentTo"} +xref: GARD:826 {source="Orphanet:1826"} xref: ICD10CM:Q78.5 {source="Orphanet:1826/attributed", source="Orphanet:1826/ntbt", source="Orphanet:1826"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538064 {source="Orphanet:1826/e", source="MONDO:equivalentTo", source="Orphanet:1826"} @@ -315194,6 +326404,7 @@ property_value: confidence "0.46118721461187207" xsd:double id: MONDO:0015943 name: eosinophilic granulomatosis with polyangiitis def: "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." [Orphanet:183] +subset: gard_rare {source="GARD:6111"} subset: ordo_disease {source="Orphanet:183"} synonym: "allergic angiitides" EXACT [MESH:D015267] synonym: "allergic angiitides, granulomatous" EXACT [MESH:D015267] @@ -315234,6 +326445,7 @@ synonym: "vasculitis, Churg-Strauss" EXACT [MESH:D015267] synonym: "vasculitis, eosinophilic granulomatous" EXACT [MESH:D015267] xref: DOID:3049 {source="MONDO:equivalentTo", source="EFO:0007208"} xref: EFO:0007208 {source="MONDO:equivalentTo"} +xref: GARD:6111 {source="Orphanet:183"} xref: ICD10CM:M30.1 {source="DOID:3049", source="Orphanet:183", source="Orphanet:183/e"} xref: MedDRA:10048594 {source="Orphanet:183", source="Orphanet:183/e"} xref: MESH:C531653 {source="Orphanet:183", source="Orphanet:183/e"} @@ -315259,11 +326471,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015944 name: axial mesodermal dysplasia spectrum def: "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." [Orphanet:1834] -subset: gard_rare {source="GARD:0000213"} +subset: gard_rare {source="GARD:213"} subset: ordo_malformation_syndrome {source="Orphanet:1834"} synonym: "blastogenesis defect" EXACT [Orphanet:1834] synonym: "Russell Weaver Bull syndrome" RELATED [GARD:0000213] synonym: "Russell-Weaver-Bull syndrome" EXACT [Orphanet:1834] +xref: GARD:213 {source="Orphanet:1834"} xref: ICD10CM:Q87.8 {source="Orphanet:1834/attributed", source="Orphanet:1834/ntbt", source="Orphanet:1834"} xref: MESH:C537790 {source="Orphanet:1834/e", source="MONDO:equivalentTo", source="Orphanet:1834"} xref: Orphanet:1834 {source="MONDO:equivalentTo"} @@ -315280,8 +326493,10 @@ id: MONDO:0015945 name: obsolete polymalformative genetic syndrome with increased risk of developing cancer def: "OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." [Orphanet:183422] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome' +subset: gard_rare {source="GARD:20259"} subset: ordo_group_of_disorders {source="Orphanet:183422"} synonym: "PGSIRC" EXACT ABBREVIATION [MONDO:cjm] +xref: GARD:20259 {source="MONDO:obsoleteEquivalent", source="Orphanet:183422"} xref: Orphanet:183422 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200541 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -315293,8 +326508,10 @@ consider: MONDO:0015356 id: MONDO:0015946 name: obsolete rare genetic epidermal disorder subset: disease_grouping +subset: gard_rare {source="GARD:20260"} subset: ordo_group_of_disorders {source="Orphanet:183426"} synonym: "genetic epidermal disorder" RELATED [Orphanet:183426] +xref: GARD:20260 {source="MONDO:obsoleteEquivalent", source="Orphanet:183426"} xref: Orphanet:183426 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200542 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315306,6 +326523,7 @@ id: MONDO:0015947 name: inherited ichthyosis def: "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary, PMID:20643494] subset: disease_grouping +subset: gard_rare {source="GARD:20261"} subset: ordo_group_of_disorders {source="Orphanet:183435"} synonym: "congenital ichthyosis" RELATED [] synonym: "congenital ichthyosis of skin" EXACT [] @@ -315315,6 +326533,7 @@ synonym: "genetic ichthyosis" EXACT [Orphanet:183435] synonym: "hereditary ichthyosis (disease)" EXACT [MONDO:patterns/hereditary] synonym: "ichthyosis congenita" RELATED [] synonym: "inherited genetic ichthyosis" EXACT [MONDO:cjm] +xref: GARD:20261 {source="Orphanet:183435"} xref: ICD10CM:Q80 {source="MONDO:equivalentTo"} xref: ICD9:757.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021202 {source="Orphanet:183435/e", source="Orphanet:183435"} @@ -315333,8 +326552,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015948 name: obsolete rare genetic skin vascular disorder subset: disease_grouping +subset: gard_rare {source="GARD:20273"} subset: ordo_group_of_disorders {source="Orphanet:183478"} synonym: "genetic skin vascular disorder" RELATED [Orphanet:183478] +xref: GARD:20273 {source="MONDO:obsoleteEquivalent", source="Orphanet:183478"} xref: Orphanet:183478 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200545 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315345,8 +326566,10 @@ replaced_by: MONDO:0000001 id: MONDO:0015949 name: obsolete rare genetic subcutaneous tissue disorder subset: disease_grouping +subset: gard_rare {source="GARD:20275"} subset: ordo_group_of_disorders {source="Orphanet:183484"} synonym: "genetic subcutaneous tissue disorder" RELATED [Orphanet:183484] +xref: GARD:20275 {source="MONDO:obsoleteEquivalent", source="Orphanet:183484"} xref: Orphanet:183484 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200546 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315356,8 +326579,10 @@ replaced_by: MONDO:0000001 [Term] id: MONDO:0015950 name: obsolete inherited skin tumor +subset: gard_rare {source="GARD:20276"} synonym: "genetic skin tumor" RELATED [Orphanet:183487] synonym: "genetic skin tumour" RELATED OMO:0003005 [] +xref: GARD:20276 {source="MONDO:obsoleteEquivalent", source="Orphanet:183487"} xref: Orphanet:183487 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200547 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -315372,12 +326597,14 @@ id: MONDO:0015951 name: hereditary photodermatosis def: "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." [https://pubmed.ncbi.nlm.nih.gov/27745641] subset: disease_grouping +subset: gard_rare {source="GARD:20277"} subset: mondo_rare {source="PMID:27745641"} subset: ordo_group_of_disorders {source="Orphanet:183490"} synonym: "genetic photosensitivity" EXACT [] synonym: "genetic skin photosensitivity" EXACT [Orphanet:183490] synonym: "photogenodermatosis" BROAD [Orphanet:183490] synonym: "photogénodermatose" BROAD [Orphanet:183490] +xref: GARD:20277 {source="Orphanet:183490"} xref: Orphanet:183490 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="Orphanet:183490"} ! skin disorder relationship: disease_has_feature HP:0000992 ! Cutaneous photosensitivity @@ -315393,7 +326620,9 @@ replaced_by: MONDO:0024237 [Term] id: MONDO:0015953 name: obsolete genetic central nervous system and retinal vascular disease +subset: gard_rare {source="GARD:20281"} subset: ordo_group_of_disorders {source="Orphanet:183503"} +xref: GARD:20281 {source="MONDO:obsoleteEquivalent", source="Orphanet:183503"} xref: Orphanet:183503 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200550 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} @@ -315405,8 +326634,10 @@ consider: MONDO:0005071 id: MONDO:0015954 name: obsolete rare genetic headache disorder subset: disease_grouping +subset: gard_rare {source="GARD:20283"} subset: ordo_group_of_disorders {source="Orphanet:183509"} synonym: "rare genetic headache" EXACT [Orphanet:183509] +xref: GARD:20283 {source="MONDO:obsoleteEquivalent", source="Orphanet:183509"} xref: Orphanet:183509 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226801 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315418,8 +326649,10 @@ id: MONDO:0015955 name: obsolete rare genetic epilepsy def: "OBSOLETE. A form of epilepsy that is both rare and inborn." [MONDO:patterns/rare_genetic] subset: disease_grouping +subset: gard_rare {source="GARD:20284"} subset: ordo_group_of_disorders {source="Orphanet:183512"} synonym: "rare genetic epilepsy" EXACT [] +xref: GARD:20284 {source="MONDO:obsoleteEquivalent", source="Orphanet:183512"} xref: Orphanet:183512 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226802 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315438,8 +326671,10 @@ id: MONDO:0015957 name: obsolete rare genetic movement disorder def: "OBSOLETE. Rare genetic movement disorder." [] subset: disease_grouping +subset: gard_rare {source="GARD:20287"} subset: ordo_group_of_disorders {source="Orphanet:183521"} synonym: "rare genetic movement disorder" EXACT [] +xref: GARD:20287 {source="MONDO:obsoleteEquivalent", source="Orphanet:183521"} xref: Orphanet:183521 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226803 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315451,8 +326686,10 @@ id: MONDO:0015958 name: obsolete rare genetic bone disease def: "OBSOLETE. Rare genetic bone disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:20288"} subset: ordo_group_of_disorders {source="Orphanet:183524"} synonym: "rare genetic bone disease" EXACT [] +xref: GARD:20288 {source="MONDO:obsoleteEquivalent", source="Orphanet:183524"} xref: Orphanet:183524 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200553 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315463,8 +326700,10 @@ replaced_by: MONDO:0005381 id: MONDO:0015959 name: obsolete inherited syndrome with bone tumors as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:20289"} subset: ordo_group_of_disorders {source="Orphanet:183527"} synonym: "genetic bone tumor" RELATED [Orphanet:183527] +xref: GARD:20289 {source="Orphanet:183527", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183527 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200554 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315476,7 +326715,9 @@ replaced_by: MONDO:0005070 id: MONDO:0015960 name: obsolete rare genetic developmental defect during embryogenesis subset: disease_grouping +subset: gard_rare {source="GARD:20290"} subset: ordo_group_of_disorders {source="Orphanet:183530"} +xref: GARD:20290 {source="MONDO:obsoleteEquivalent", source="Orphanet:183530"} xref: Orphanet:183530 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226804 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315486,7 +326727,9 @@ replaced_by: MONDO:0021147 [Term] id: MONDO:0015961 name: obsolete hereditary head and neck malformation +subset: gard_rare {source="GARD:20303"} synonym: "genetic head and neck malformation" EXACT [Orphanet:183583] +xref: GARD:20303 {source="MONDO:obsoleteEquivalent", source="Orphanet:183583"} xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:183583 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -315498,8 +326741,10 @@ is_obsolete: true id: MONDO:0015962 name: inherited renal tubular disease subset: disease_grouping +subset: gard_rare {source="GARD:20306"} subset: ordo_group_of_disorders {source="Orphanet:183592"} synonym: "genetic renal tubular disease" RELATED [Orphanet:183592] +xref: GARD:20306 {source="Orphanet:183592"} xref: Orphanet:183592 {source="MONDO:equivalentTo"} xref: UMLS:CN200561 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:183592"} ! kidney disorder @@ -315512,8 +326757,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare id: MONDO:0015963 name: obsolete inherited renal tumor subset: disease_grouping +subset: gard_rare {source="GARD:20307"} subset: ordo_group_of_disorders {source="Orphanet:183595"} synonym: "genetic renal tumor" RELATED [Orphanet:183595] +xref: GARD:20307 {source="MONDO:obsoleteEquivalent", source="Orphanet:183595"} xref: Orphanet:183595 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200562 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -315545,8 +326792,10 @@ is_obsolete: true id: MONDO:0015966 name: obsolete hereditary eye tumor subset: disease_grouping +subset: gard_rare {source="GARD:20310"} subset: ordo_group_of_disorders {source="Orphanet:183619"} synonym: "genetic eye tumor" RELATED [Orphanet:183619] +xref: GARD:20310 {source="MONDO:obsoleteEquivalent", source="Orphanet:183619"} xref: Orphanet:183619 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200566 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -315556,9 +326805,11 @@ id: MONDO:0015967 name: monogenic diabetes def: "Diabetes mellitus that is caused by mutations in a single gene." [https://doi.org/10.2337/dci20-0065] subset: disease_grouping +subset: gard_rare {source="GARD:20312"} subset: ordo_group_of_disorders {source="Orphanet:183625"} synonym: "monogenic diabetes" EXACT CLINGEN_PREFERRED [] synonym: "rare genetic diabetes mellitus" EXACT [] +xref: GARD:20312 {source="Orphanet:183625"} xref: NCIT:C129739 {source="MONDO:equivalentTo"} xref: Orphanet:183625 {source="MONDO:equivalentTo"} xref: UMLS:CN226817 {source="MONDO:notFoundInDiseaseSubset"} @@ -315571,7 +326822,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015968 name: obsolete rare genetic hypothalamic or pituitary disease subset: disease_grouping +subset: gard_rare {source="GARD:20313"} subset: ordo_group_of_disorders {source="Orphanet:183628"} +xref: GARD:20313 {source="Orphanet:183628", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183628 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200567 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -315584,8 +326837,10 @@ id: MONDO:0015969 name: obsolete rare genetic thyroid disease def: "OBSOLETE. Rare genetic thyroid disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:20314"} subset: ordo_group_of_disorders {source="Orphanet:183631"} synonym: "rare genetic thyroid disease" EXACT [] +xref: GARD:20314 {source="MONDO:obsoleteEquivalent", source="Orphanet:183631"} xref: Orphanet:183631 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200568 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315596,7 +326851,9 @@ replaced_by: MONDO:0003240 id: MONDO:0015970 name: obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder subset: disease_grouping +subset: gard_rare {source="GARD:20315"} subset: ordo_group_of_disorders {source="Orphanet:183634"} +xref: GARD:20315 {source="MONDO:obsoleteEquivalent", source="Orphanet:183634"} xref: Orphanet:183634 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200569 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -315608,7 +326865,9 @@ is_obsolete: true id: MONDO:0015971 name: obsolete rare genetic adrenal disease subset: disease_grouping +subset: gard_rare {source="GARD:20316"} subset: ordo_group_of_disorders {source="Orphanet:183637"} +xref: GARD:20316 {source="Orphanet:183637", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183637 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200570 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315620,10 +326879,12 @@ id: MONDO:0015972 name: obsolete rare constitutional anemia def: "OBSOLETE. A form of anemia (disease) that is both rare and inborn." [MONDO:patterns/rare_genetic] subset: disease_grouping +subset: gard_rare {source="GARD:20318"} subset: ordo_group_of_disorders {source="Orphanet:183651"} synonym: "rare constitutional anemia (disease)" EXACT [MONDO:patterns/rare_genetic] synonym: "rare genetic anemia (disease)" EXACT [] synonym: "rare inborn anemia (disease)" EXACT [MONDO:patterns/rare_genetic] +xref: GARD:20318 {source="MONDO:obsoleteEquivalent", source="Orphanet:183651"} xref: Orphanet:183651 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226818 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315641,6 +326902,7 @@ id: MONDO:0015974 name: severe combined immunodeficiency def: "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." [Orphanet:183660] subset: disease_grouping +subset: gard_rare {source="GARD:7628"} subset: ordo_group_of_disorders {source="Orphanet:183660"} synonym: "combined T and B cell inborn immunodeficiency" EXACT [DOID:627] synonym: "SCID" EXACT ABBREVIATION [DOID:627, NCIT:C3472, Orphanet:183660] @@ -315648,6 +326910,7 @@ synonym: "severe combined immunodeficiency" EXACT CLINGEN_PREFERRED [MONDO:ambig synonym: "severe combined immunodeficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0003833] synonym: "severe combined immunodeficiency disease" EXACT [NCIT:C3472] xref: DOID:627 {source="MONDO:equivalentTo"} +xref: GARD:7628 {source="Orphanet:183660"} xref: HP:0004430 {source="MONDO:otherHierarchy"} xref: ICD10CM:D81.0 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} xref: ICD10CM:D81.1 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} @@ -315668,7 +326931,9 @@ property_value: IAO:0000589 "severe combined immunodeficiency (disease)" xsd:str [Term] id: MONDO:0015975 name: obsolete hyper-IgM syndrome with susceptibility to opportunistic infections +subset: gard_rare {source="GARD:17084"} synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663] +xref: GARD:17084 {source="MONDO:obsoleteEquivalent", source="Orphanet:183663"} xref: ICD10CM:D80.5 {source="Orphanet:183663", source="Orphanet:183663/attributed", source="Orphanet:183663/ntbt"} xref: Orphanet:183663 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200572 {source="MONDO:obsoleteEquivalent"} @@ -315683,7 +326948,9 @@ is_obsolete: true [Term] id: MONDO:0015976 name: obsolete hyper-IgM syndrome without susceptibility to opportunistic infections +subset: gard_rare {source="GARD:17085"} synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666] +xref: GARD:17085 {source="MONDO:obsoleteEquivalent", source="Orphanet:183666"} xref: ICD10CM:D80.5 {source="Orphanet:183666/attributed", source="Orphanet:183666/ntbt", source="Orphanet:183666"} xref: Orphanet:183666 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200573 {source="MONDO:obsoleteEquivalent"} @@ -315699,7 +326966,7 @@ id: MONDO:0015977 name: agammaglobulinemia def: "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." [NCIT:P378] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20320"} subset: ordo_group_of_disorders {source="Orphanet:183669"} synonym: "agammaglobulinemia" EXACT CLINGEN_PREFERRED [] synonym: "antibody Deficiency" RELATED [GARD:0007455] @@ -315709,6 +326976,7 @@ synonym: "IGHM" EXACT ABBREVIATION [DOID:2583] synonym: "Immunoglobulin Deficiency" RELATED [GARD:0007455] synonym: "mu heavy chain deficiency" EXACT [DOID:2583] xref: DOID:2583 {source="MONDO:equivalentTo"} +xref: GARD:20320 {source="Orphanet:183669"} xref: ICD10CM:D80.1 {source="DOID:2583"} xref: ICD9:279.00 {source="DOID:2583"} xref: MedDRA:10001471 {source="Orphanet:183669/e", source="Orphanet:183669"} @@ -315732,9 +327000,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601495"} ! inheri id: MONDO:0015978 name: functional neutrophil defect subset: disease_grouping +subset: gard_rare {source="GARD:20321"} subset: ordo_group_of_disorders {source="Orphanet:183681"} synonym: "neutrophil disease" EXACT [MONDO:cjm] synonym: "neutrophilopathy" EXACT [MONDO:cjm] +xref: GARD:20321 {source="Orphanet:183681"} xref: Orphanet:183681 {source="MONDO:equivalentTo"} xref: SCTID:105600002 {source="MONDO:equivalentTo"} is_a: MONDO:0004805 {source="https://orcid.org/0000-0001-7941-2961"} ! leukocyte disorder @@ -315748,9 +327018,11 @@ id: MONDO:0015979 name: hereditary predisposition to infections comment: Reason: out of scope. MONDO:excludeGrouping. Term to consider:MONDO:0020573 inherited disease susceptibility subset: disease_grouping +subset: gard_rare {source="GARD:20322"} subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:183710"} synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710] +xref: GARD:20322 {source="Orphanet:183710"} xref: ICD10CM:D84.8 {source="Orphanet:183710/attributed", source="Orphanet:183710/ntbt", source="Orphanet:183710"} xref: Orphanet:183710 {source="MONDO:equivalentTo"} intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -315763,8 +327035,10 @@ property_value: IAO:0006012 "2022-09-01" xsd:string id: MONDO:0015980 name: obsolete rare genetic gynecological and obstetrical diseases subset: disease_grouping +subset: gard_rare {source="GARD:20323"} subset: ordo_group_of_disorders {source="Orphanet:183731"} synonym: "rare genetic female reproductive system disease" EXACT [MONDO:cjm] +xref: GARD:20323 {source="MONDO:obsoleteEquivalent", source="Orphanet:183731"} xref: Orphanet:183731 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200580 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315775,9 +327049,11 @@ replaced_by: MONDO:0002263 id: MONDO:0015981 name: obsolete inherited gynecological tumor subset: disease_grouping +subset: gard_rare {source="GARD:20324"} subset: ordo_group_of_disorders {source="Orphanet:183734"} synonym: "genetic gynecological tumor" EXACT [Orphanet:183734] synonym: "rare genetic female reproductive system tumor" EXACT [MONDO:cjm] +xref: GARD:20324 {source="MONDO:obsoleteEquivalent", source="Orphanet:183734"} xref: Orphanet:183734 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200581 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -315787,8 +327063,10 @@ id: MONDO:0015982 name: obsolete rare genetic intellectual disability def: "OBSOLETE. Rare genetic intellectual disability." [] subset: disease_grouping +subset: gard_rare {source="GARD:20325"} subset: ordo_group_of_disorders {source="Orphanet:183757"} synonym: "rare genetic intellectual disability" EXACT [] +xref: GARD:20325 {source="MONDO:obsoleteEquivalent", source="Orphanet:183757"} xref: Orphanet:183757 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226821 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315800,8 +327078,10 @@ id: MONDO:0015983 name: obsolete rare genetic syndromic intellectual disability def: "OBSOLETE. Rare genetic syndromic intellectual disability." [] subset: disease_grouping +subset: gard_rare {source="GARD:20326"} subset: ordo_group_of_disorders {source="Orphanet:183763"} synonym: "rare genetic syndromic intellectual disability" EXACT [] +xref: GARD:20326 {source="MONDO:obsoleteEquivalent", source="Orphanet:183763"} xref: Orphanet:183763 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226822 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315813,8 +327093,10 @@ id: MONDO:0015984 name: obsolete rare genetic immune disease def: "OBSOLETE. Rare genetic immune system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:20327"} subset: ordo_group_of_disorders {source="Orphanet:183770"} synonym: "rare genetic immune system disease" EXACT [] +xref: GARD:20327 {source="MONDO:obsoleteEquivalent", source="Orphanet:183770"} xref: Orphanet:183770 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200582 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -315825,7 +327107,6 @@ replaced_by: MONDO:0005046 id: MONDO:0015985 name: bone dysplasia, Azouz type def: "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." [Orphanet:1844] -subset: gard_rare {source="GARD:0000920"} subset: ordo_malformation_syndrome {source="Orphanet:1844"} synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920] xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"} @@ -315840,10 +327121,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/920/bone-dys id: MONDO:0015986 name: bilateral renal agenesis def: "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." [Orphanet:1848] +subset: gard_rare {source="GARD:16579"} subset: ordo_clinical_subtype {source="Orphanet:1848"} synonym: "bilateral renal aplasia" RELATED [DOID:0080200] synonym: "renal agenesis, bilateral" RELATED [Orphanet:1848] xref: DOID:0080200 {source="MONDO:equivalentTo"} +xref: GARD:16579 {source="Orphanet:1848"} xref: ICD10CM:Q60.1 {source="Orphanet:1848/e", source="Orphanet:1848/specific", source="MONDO:equivalentTo", source="Orphanet:1848"} xref: MESH:C536482 {source="Orphanet:1848/e", source="Orphanet:1848"} xref: NCIT:C101219 {source="MONDO:equivalentTo"} @@ -315855,11 +327138,13 @@ is_a: MONDO:0018470 {source="DOID:0080200", source="NCIT:C101219", source="Orpha id: MONDO:0015987 name: scimitar syndrome def: "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." [Orphanet:185] +subset: gard_rare {source="GARD:18680"} subset: ordo_malformation_syndrome {source="Orphanet:185"} synonym: "congenital pulmonary venolobar syndrome" EXACT [Orphanet:185] synonym: "Epibronchial right pulmonary vein syndrome" EXACT [Orphanet:185] synonym: "Halasz syndrome" EXACT [Orphanet:185] synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185] +xref: GARD:18680 {source="Orphanet:185"} xref: ICD10CM:Q26.8 {source="Orphanet:185/ntbt", source="Orphanet:185"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051951 {source="Orphanet:185/e", source="Orphanet:185"} @@ -315876,9 +327161,11 @@ is_a: MONDO:0020292 {source="Orphanet:185"} ! congenital anomaly of the great ar id: MONDO:0015988 name: multicystic dysplastic kidney def: "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." [Orphanet:1851] +subset: gard_rare {source="GARD:18748"} subset: ordo_morphological_anomaly {source="Orphanet:1851"} synonym: "MCDK" EXACT ABBREVIATION [Orphanet:1851] synonym: "multicystic renal dysplasia" EXACT [Orphanet:1851] +xref: GARD:18748 {source="Orphanet:1851"} xref: ICD10CM:Q61.4 {source="Orphanet:1851/ntbt", source="Orphanet:1851/inclusion", source="Orphanet:1851"} xref: ICD9:753.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D021782 {source="Orphanet:1851", source="MONDO:equivalentTo", source="Orphanet:1851/e"} @@ -315905,7 +327192,9 @@ id: MONDO:0015990 name: focal, segmental or multifocal dystonia def: "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." [Orphanet:1866] subset: disease_grouping +subset: gard_rare {source="GARD:18749"} subset: ordo_group_of_disorders {source="Orphanet:1866"} +xref: GARD:18749 {source="Orphanet:1866"} xref: ICD10CM:G24.3 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} xref: ICD10CM:G24.4 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} xref: ICD10CM:G24.5 {source="MONDO:relatedTo", source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} @@ -315918,10 +327207,12 @@ id: MONDO:0015991 name: citrullinemia def: "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." [Orphanet:187] subset: disease_grouping +subset: gard_rare {source="GARD:16522"} subset: ordo_group_of_disorders {source="Orphanet:187"} synonym: "ass deficiency" NARROW [DOID:9273] synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273] xref: DOID:9273 {source="MONDO:equivalentTo"} +xref: GARD:16522 {source="Orphanet:187"} xref: ICD10CM:E72.2 {source="Orphanet:187/inclusion", source="Orphanet:187/ntbt", source="Orphanet:187"} xref: ICD10CM:E72.23 {source="MONDO:equivalentTo", source="DOID:9273"} xref: MESH:D020159 {source="Orphanet:187/e", source="MONDO:equivalentTo", source="DOID:9273", source="Orphanet:187"} @@ -315944,11 +327235,13 @@ replaced_by: MONDO:0000455 id: MONDO:0015993 name: cone-rod dystrophy def: "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." [Orphanet:1872] +subset: gard_rare {source="GARD:10790"} subset: ordo_disease {source="Orphanet:1872"} synonym: "cone rod dystrophy" RELATED [Orphanet:1872] synonym: "cone-rod retinal dystrophy" EXACT [DOID:0050572] synonym: "CRD" EXACT ABBREVIATION [Orphanet:1872] xref: DOID:0050572 {source="MONDO:equivalentTo"} +xref: GARD:10790 {source="Orphanet:1872"} xref: ICD10CM:H35.5 {source="Orphanet:1872/attributed", source="Orphanet:1872/ntbt", source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872"} xref: MESH:D000071700 {source="MONDO:equivalentTo"} xref: OMIMPS:120970 {source="MONDO:equivalentTo"} @@ -315959,7 +327252,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:120970"} ! inheri [Term] id: MONDO:0015994 name: muscular dystrophy-white matter spongiosis syndrome -subset: gard_rare subset: ordo_disease {source="Orphanet:1877"} synonym: "Atrophie blanche" RELATED [GARD:0003854] synonym: "muscular dystrophy white matter spongiosis" RELATED [GARD:0003854] @@ -315974,11 +327266,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3854/muscula id: MONDO:0015995 name: melorheostosis with osteopoikilosis def: "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." [Orphanet:1879] -subset: gard_rare +subset: gard_rare {source="GARD:3690"} subset: ordo_malformation_syndrome {source="Orphanet:1879"} synonym: "dystrophy osseous sclerosing mixed" RELATED [GARD:0003800] synonym: "mixed sclerosing bone dystrophy" EXACT [Orphanet:1879] synonym: "MSBD syndrome" EXACT [Orphanet:1879] +xref: GARD:3690 {source="Orphanet:1879"} xref: ICD10CM:M85.8 {source="Orphanet:1879", source="Orphanet:1879/attributed", source="Orphanet:1879/ntbt"} xref: MESH:C563593 {source="MONDO:equivalentTo"} xref: Orphanet:1879 {source="MONDO:equivalentTo"} @@ -315999,10 +327292,12 @@ replaced_by: MONDO:0001956 id: MONDO:0015997 name: ectopia lentis-chorioretinal dystrophy-myopia syndrome def: "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." [Orphanet:1884] +subset: gard_rare {source="GARD:3999"} subset: ordo_disease {source="Orphanet:1884"} synonym: "ectopia lentis chorioretinal dystrophy myopia" RELATED [GARD:0003999] synonym: "noble Bass Sherman syndrome" RELATED [GARD:0003999] synonym: "noble-Bass-Sherman syndrome" EXACT [Orphanet:1884] +xref: GARD:3999 {source="Orphanet:1884"} xref: ICD10CM:Q15.8 {source="Orphanet:1884/attributed", source="Orphanet:1884/ntbt", source="Orphanet:1884"} xref: MESH:C536124 {source="MONDO:equivalentTo"} xref: Orphanet:1884 {source="MONDO:equivalentTo"} @@ -316016,7 +327311,7 @@ is_a: MONDO:0019118 {source="Orphanet:1884"} ! inherited retinal dystrophy id: MONDO:0015998 name: isolated ectopia lentis def: "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." [Orphanet:1885] -subset: gard_rare {source="GARD:0012251"} +subset: gard_rare {source="GARD:12251"} subset: ordo_malformation_syndrome {source="Orphanet:1885"} synonym: "congenital ectopic lens" RELATED [NCIT:C34566] synonym: "ectopia lentis syndrome" EXACT [Orphanet:1885] @@ -316025,6 +327320,7 @@ synonym: "IEL" EXACT ABBREVIATION [DOID:0111148] synonym: "isolated lens position anomaly" EXACT [] synonym: "nonsyndromic lens position anomaly" EXACT [MONDO:patterns/isolated] xref: DOID:0111148 {source="MONDO:equivalentTo"} +xref: GARD:12251 {source="Orphanet:1885"} xref: ICD10CM:Q12.1 {source="Orphanet:1885", source="Orphanet:1885/specific", source="Orphanet:1885/e", source="DOID:0111148"} xref: MedDRA:10014145 {source="Orphanet:1885", source="Orphanet:1885/e"} xref: MESH:C536184 {source="MONDO:equivalentTo", source="Orphanet:1885", source="Orphanet:1885/e"} @@ -316048,13 +327344,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12251/isolat id: MONDO:0015999 name: primary pigmented nodular adrenocortical disease def: "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." [Orphanet:189439] -subset: gard_rare {source="GARD:0010906"} +subset: gard_rare {source="GARD:10906"} subset: ordo_disease {source="Orphanet:189439"} synonym: "pigmented nodular adrenocortical disease" EXACT [MONDO:0000084] synonym: "pigmented nodular adrenocortical disease, primary" EXACT [OMIMPS:610489] synonym: "PPNAD" EXACT ABBREVIATION [Orphanet:189439] synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196] xref: DOID:0060280 {source="MONDO:equivalentTo"} +xref: GARD:10906 {source="Orphanet:189439"} xref: ICD10CM:E24.8 {source="Orphanet:189439/attributed", source="Orphanet:189439/ntbt", source="Orphanet:189439"} xref: MESH:C566469 {source="DOID:0060280"} xref: MESH:C566472 {source="DOID:0060280"} @@ -316075,7 +327372,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10906/primar [Term] id: MONDO:0016000 name: familial isolated hypoparathyroidism due to impaired PTH secretion +subset: gard_rare {source="GARD:17088"} subset: ordo_clinical_subtype {source="Orphanet:189466"} +xref: GARD:17088 {source="Orphanet:189466"} xref: ICD10CM:E20.8 {source="Orphanet:189466/attributed", source="Orphanet:189466/ntbt", source="Orphanet:189466"} xref: Orphanet:189466 {source="MONDO:equivalentTo"} xref: UMLS:CN200646 {source="MONDO:equivalentTo"} @@ -316088,12 +327387,13 @@ id: MONDO:0016001 name: 2-hydroxyglutaric aciduria def: "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." [Orphanet:19] subset: disease_grouping -subset: gard_rare {source="GARD:0010761"} +subset: gard_rare {source="GARD:10761"} subset: ordo_group_of_disorders {source="Orphanet:19"} synonym: "2-HGA" RELATED [MESH:C535306] synonym: "2-hydroxyglutaric acidemia" EXACT [Orphanet:19] synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306] xref: DOID:0050573 {source="MONDO:equivalentTo"} +xref: GARD:10761 {source="Orphanet:19"} xref: ICD10CM:E72.8 {source="Orphanet:19/attributed", source="Orphanet:19/ntbt", source="Orphanet:19"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535306 {source="MONDO:equivalentTo"} @@ -316111,6 +327411,7 @@ id: MONDO:0016002 name: Ehlers-Danlos syndrome, kyphoscoliotic type 1 def: "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." [Orphanet:1900] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:22216"} subset: ordo_disease {source="Orphanet:1900"} synonym: "EDS 6" EXACT [OMIM:225400] synonym: "EDS 6 (formerly)" RELATED [GARD:0002083] @@ -316145,6 +327446,7 @@ synonym: "kyphoscoliotic Ehlers-Danlos syndrome" RELATED [GARD:0002083] synonym: "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" EXACT [Orphanet:1900] synonym: "nevo syndrome" EXACT DEPRECATED [MESH:C536198, OMIM:225400, PMID:19760654] xref: DOID:0080734 {source="MONDO:equivalentTo"} +xref: GARD:22216 {source="Orphanet:1900"} xref: ICD10CM:Q79.6 {source="Orphanet:1900/attributed", source="Orphanet:1900/ntbt", source="Orphanet:1900"} xref: MESH:C536198 {source="MONDO:equivalentTo"} xref: NCIT:C125700 {source="MONDO:equivalentTo"} @@ -316171,9 +327473,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016003 name: ehrlichiosis def: "An disease or disorder caused by infection with Ehrlichia." [MONDO:patterns/specific_infectious_disease_by_agent] +subset: gard_rare {source="GARD:2092"} subset: ordo_disease {source="Orphanet:1902"} synonym: "human ehrlichiosis" EXACT [DOID:10242] xref: DOID:10242 {source="MONDO:equivalentTo"} +xref: GARD:2092 {source="Orphanet:1902"} xref: ICD10CM:A48.8 {source="Orphanet:1902/ntbt", source="Orphanet:1902"} xref: ICD10CM:A77.4 {source="DOID:10242"} xref: ICD10CM:A77.40 {source="DOID:10242"} @@ -316196,7 +327500,7 @@ relationship: transmitted_by NCBITaxon:6944 ! Ixodes id: MONDO:0016004 name: aminopterin/methotrexate embryofetopathy def: "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." [Orphanet:1908] -subset: gard_rare +subset: gard_rare {source="GARD:2294"} subset: ordo_malformation_syndrome {source="Orphanet:1908"} synonym: "aminopterin embryopathy syndrome" EXACT [GARD:0002294, Orphanet:1908] synonym: "aminopterin fetopathy syndrome" RELATED [GARD:0002294] @@ -316205,6 +327509,7 @@ synonym: "fetal aminopterin syndrome" EXACT [Orphanet:1908] synonym: "fetal methotrexate syndrome" RELATED [GARD:0002294] synonym: "foetal aminopterin syndrome" EXACT OMO:0003005 [] synonym: "foetal methotrexate syndrome" RELATED OMO:0003005 [] +xref: GARD:2294 {source="Orphanet:1908"} xref: ICD10CM:Q86.8 {source="Orphanet:1908/ntbt", source="Orphanet:1908"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071183 {source="Orphanet:1908", source="Orphanet:1908/e"} @@ -316218,10 +327523,12 @@ is_a: MONDO:0016677 {source="Orphanet:1908"} ! toxic or drug-related embryofetop id: MONDO:0016005 name: indomethacin embryofetopathy def: "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." [Orphanet:1909] +subset: gard_rare {source="GARD:2303"} subset: ordo_malformation_syndrome {source="Orphanet:1909"} synonym: "antenatal indomethacin exposure" RELATED [GARD:0002994] synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909] synonym: "foetal indomethacin syndrome" EXACT OMO:0003005 [] +xref: GARD:2303 {source="Orphanet:1909"} xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="Orphanet:1909/ntbt"} xref: Orphanet:1909 {source="MONDO:equivalentTo"} xref: SCTID:715430001 {source="MONDO:equivalentTo"} @@ -316233,6 +327540,7 @@ is_a: MONDO:0016677 {source="Orphanet:1909"} ! toxic or drug-related embryofetop id: MONDO:0016006 name: Cockayne syndrome def: "A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:191] +subset: gard_rare {source="GARD:6122"} subset: ordo_disease {source="Orphanet:191"} synonym: "Cockayne's syndrome" RELATED [DOID:2962] synonym: "dwarfism-retinal atrophy-deafness syndrome" RELATED [GARD:0006122] @@ -316240,6 +327548,7 @@ synonym: "Neill-Dingwall syndrome" EXACT [DOID:2962] synonym: "progeria-like syndrome" RELATED [GARD:0006122] synonym: "progeroid nanism" RELATED [GARD:0006122] xref: DOID:2962 {source="MONDO:equivalentTo"} +xref: GARD:6122 {source="Orphanet:191"} xref: ICD10CM:Q87.1 {source="Orphanet:191/ntbt", source="Orphanet:191/inclusion", source="Orphanet:191", source="DOID:2962"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10009835 {source="Orphanet:191", source="Orphanet:191/e"} @@ -316274,13 +327583,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016007 name: cocaine embryofetopathy def: "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." [Orphanet:1911] -subset: gard_rare +subset: gard_rare {source="GARD:1413"} subset: ordo_malformation_syndrome {source="Orphanet:1911"} synonym: "cocaine antenatal exposure" RELATED [GARD:0001413] synonym: "cocaine fetopathy" RELATED [GARD:0001413] synonym: "fetal cocaine syndrome" EXACT [GARD:0001413, Orphanet:1911] synonym: "foetal cocaine syndrome" EXACT OMO:0003005 [] synonym: "prenatal cocaine exposure" RELATED [GARD:0001413] +xref: GARD:1413 {source="Orphanet:1911"} xref: ICD10CM:Q86.8 {source="Orphanet:1911/ntbt", source="Orphanet:1911"} xref: ICD9:760.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1911 {source="MONDO:equivalentTo"} @@ -316293,7 +327603,7 @@ relationship: realized_in_response_to_stimulus CHEBI:27958 ! cocaine id: MONDO:0016008 name: fetal hydantoin syndrome def: "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." [Orphanet:1912] -subset: gard_rare {source="GARD:0006435"} +subset: gard_rare {source="GARD:6435"} subset: ordo_malformation_syndrome {source="Orphanet:1912"} synonym: "Dilantin embryopathy" RELATED [GARD:0006435] synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912] @@ -316301,6 +327611,7 @@ synonym: "FHS" EXACT [OMIM:617955] synonym: "foetal dihydantoin syndrome" EXACT OMO:0003005 [] synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912] synonym: "phenytoin embryopathy" RELATED [GARD:0006435] +xref: GARD:6435 {source="Orphanet:1912"} xref: ICD10CM:Q86.1 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016508 {source="Orphanet:1912/e", source="Orphanet:1912"} @@ -316320,7 +327631,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6435/fetal-h id: MONDO:0016009 name: fetal trimethadione syndrome def: "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." [Orphanet:1913] +subset: gard_rare {source="GARD:18750"} subset: ordo_malformation_syndrome {source="Orphanet:1913"} +xref: GARD:18750 {source="Orphanet:1913"} xref: ICD10CM:Q86.8 {source="Orphanet:1913/ntbt", source="Orphanet:1913"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537798 {source="Orphanet:1913/e", source="MONDO:equivalentTo", source="Orphanet:1913"} @@ -316334,7 +327647,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016010 name: vitamin K-antagonist embryofetopathy def: "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." [NCIT:C98906] -subset: gard_rare +subset: gard_rare {source="GARD:8580"} subset: ordo_malformation_syndrome {source="Orphanet:1914"} synonym: "congenital warfarin syndrome" RELATED [GARD:0008580] synonym: "coumarin embryopathy" RELATED [GARD:0008580] @@ -316356,6 +327669,7 @@ synonym: "vitamin K-antagonist embryopathy" EXACT [Orphanet:1914] synonym: "warfarin embryofetopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin embryopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin syndrome" RELATED [GARD:0008580] +xref: GARD:8580 {source="Orphanet:1914"} xref: ICD10CM:Q86.2 {source="Orphanet:1914/ntbt", source="Orphanet:1914"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051445 {source="Orphanet:1914/e", source="Orphanet:1914"} @@ -316372,6 +327686,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8580/warfari id: MONDO:0016011 name: fetal alcohol syndrome def: "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." [Orphanet:1915] +subset: gard_rare {source="GARD:599"} subset: ordo_malformation_syndrome {source="Orphanet:1915"} synonym: "alcohol-related birth defects" RELATED [Orphanet:1915] synonym: "alcohol-related neurodevelopmental disorder" EXACT [MONDO:0000394, Orphanet:1915] @@ -316384,6 +327699,7 @@ synonym: "foetal alcohol spectrum disorders" BROAD OMO:0003005 [] synonym: "static encephalopathy" RELATED [DOID:0050667] xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050667 {source="MONDO:equivalentTo"} +xref: GARD:599 {source="Orphanet:1915"} xref: ICD10CM:Q86.0 {source="Orphanet:1915/e", source="Orphanet:1915"} xref: MedDRA:10016845 {source="Orphanet:1915/e", source="Orphanet:1915"} xref: MESH:D005310 {source="Orphanet:1915/e", source="Orphanet:1915"} @@ -316402,7 +327718,7 @@ is_a: MONDO:0016677 {source="Orphanet:1915"} ! toxic or drug-related embryofetop id: MONDO:0016012 name: diethylstilbestrol syndrome def: "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." [Orphanet:1916] -subset: gard_rare {source="GARD:0001859"} +subset: gard_rare {source="GARD:1859"} subset: ordo_disease {source="Orphanet:1916"} synonym: "antenatal diethylstilbestrol exposure" RELATED [GARD:0001859] synonym: "DES embryofetopathy" EXACT [Orphanet:1916] @@ -316411,6 +327727,7 @@ synonym: "diethylstilbestrol embryofetopathy" EXACT [Orphanet:1916] synonym: "Distilbene embryofetopathy" EXACT [Orphanet:1916] synonym: "fetal diethylstilbestrol syndrome" RELATED [GARD:0001859] synonym: "foetal diethylstilbestrol syndrome" RELATED OMO:0003005 [] +xref: GARD:1859 {source="Orphanet:1916"} xref: ICD10CM:Q86.8 {source="Orphanet:1916/ntbt", source="Orphanet:1916"} xref: MedDRA:10012780 {source="Orphanet:1916/e", source="Orphanet:1916"} xref: NCIT:C113422 {source="MONDO:equivalentTo"} @@ -316427,11 +327744,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1859/diethyl id: MONDO:0016013 name: fetal methylmercury syndrome def: "Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." [Orphanet:1917] -subset: gard_rare {source="GARD:0003575"} +subset: gard_rare {source="GARD:3575"} subset: ordo_malformation_syndrome {source="Orphanet:1917"} synonym: "Methyl mercury antenatal exposure" RELATED [GARD:0003575] synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917] synonym: "Minamata disease" RELATED [Orphanet:1917] +xref: GARD:3575 {source="Orphanet:1917"} xref: ICD10CM:T56.1 {source="Orphanet:1917", source="Orphanet:1917/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020262 {source="MONDO:equivalentTo"} @@ -316446,10 +327764,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3575/fetal-m id: MONDO:0016014 name: fetal minoxidil syndrome def: "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available." [Orphanet:1918] -subset: gard_rare {source="GARD:0002308"} +subset: gard_rare {source="GARD:2308"} subset: ordo_malformation_syndrome {source="Orphanet:1918"} synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308] synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918] +xref: GARD:2308 {source="Orphanet:1918"} xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="Orphanet:1918/ntbt"} xref: ICD9:760.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1918 {source="MONDO:equivalentTo"} @@ -316462,8 +327781,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2308/fetal-m id: MONDO:0016015 name: phenobarbital embryopathy def: "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." [Orphanet:1919] +subset: gard_rare {source="GARD:4315"} subset: ordo_malformation_syndrome {source="Orphanet:1919"} synonym: "phenobarbital antenatal exposure" RELATED [GARD:0004315] +xref: GARD:4315 {source="Orphanet:1919"} xref: ICD10CM:Q86.8 {source="Orphanet:1919/ntbt", source="Orphanet:1919"} xref: Orphanet:1919 {source="MONDO:equivalentTo"} xref: SCTID:715431002 {source="MONDO:equivalentTo"} @@ -316475,11 +327796,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016016 name: toluene embryopathy def: "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." [Orphanet:1920] -subset: gard_rare +subset: gard_rare {source="GARD:18751"} subset: ordo_malformation_syndrome {source="Orphanet:1920"} synonym: "Hersh Podruch Weisskopk syndrome" RELATED [MESH:C538114] synonym: "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" RELATED [GARD:0002672] synonym: "toluene embryopathy" EXACT [GARD:0002672, MESH:C538114] +xref: GARD:18751 {source="Orphanet:1920"} xref: ICD10CM:Q86.8 {source="Orphanet:1920", source="Orphanet:1920/ntbt"} xref: MESH:C538114 {source="MONDO:equivalentTo", source="UMLS:C2931737"} xref: Orphanet:1920 {source="MONDO:equivalentTo"} @@ -316492,7 +327814,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016017 name: methimazole embryofetopathy def: "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." [Orphanet:1923] -subset: gard_rare +subset: gard_rare {source="GARD:3573"} subset: ordo_malformation_syndrome {source="Orphanet:1923"} synonym: "fetal methimazole syndrome" RELATED [GARD:0003573] synonym: "foetal methimazole syndrome" RELATED OMO:0003005 [] @@ -316502,6 +327824,7 @@ synonym: "Methimazole/carbimazole embryofetopathy" EXACT [GARD:0003573, Orphanet synonym: "Methimazole/carbimazole embryopathy" EXACT [GARD:0003573, Orphanet:1923] synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923] synonym: "MMI/CMZ embryopathy" EXACT [Orphanet:1923] +xref: GARD:3573 {source="Orphanet:1923"} xref: ICD10CM:Q86.8 {source="Orphanet:1923", source="Orphanet:1923/ntbt"} xref: Orphanet:1923 {source="MONDO:equivalentTo", source="GARD:0003573"} xref: SCTID:724144006 {source="MONDO:equivalentTo"} @@ -316514,7 +327837,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3573/methima id: MONDO:0016018 name: diabetic embryopathy def: "Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother." [Orphanet:1926] +subset: gard_rare {source="GARD:16580"} subset: ordo_malformation_syndrome {source="Orphanet:1926"} +xref: GARD:16580 {source="Orphanet:1926"} xref: ICD10CM:P00.4 {source="Orphanet:1926/btnt", source="Orphanet:1926"} xref: NCIT:C113485 {source="MONDO:equivalentTo"} xref: Orphanet:1926 {source="MONDO:equivalentTo"} @@ -316530,12 +327855,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016019 name: Rasmussen subacute encephalitis def: "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." [NCIT:C125384] +subset: gard_rare {source="GARD:18752"} subset: ordo_disease {source="Orphanet:1929"} synonym: "CFE" EXACT ABBREVIATION [NCIT:C125384] synonym: "chronic focal encephalitis" EXACT [NCIT:C125384] synonym: "Rasmussen encephalitis" EXACT [NCIT:C125384] synonym: "Rasmussen syndrome" EXACT [Orphanet:1929] synonym: "RE" RELATED ABBREVIATION [GARD:0007527] +xref: GARD:18752 {source="Orphanet:1929"} xref: ICD10CM:G04.8 {source="Orphanet:1929", source="Orphanet:1929/ntbt"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535291 {source="Orphanet:1929", source="MONDO:equivalentTo", source="Orphanet:1929/e"} @@ -316552,8 +327879,10 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0016020 name: frontal encephalocele +subset: gard_rare {source="GARD:18753"} subset: ordo_clinical_subtype {source="Orphanet:1931"} synonym: "anterior encephalocele" EXACT [Orphanet:1931] +xref: GARD:18753 {source="Orphanet:1931"} xref: ICD10CM:Q01.0 {source="MONDO:equivalentTo", source="Orphanet:1931/specific", source="Orphanet:1931", source="Orphanet:1931/e"} xref: Orphanet:1931 {source="MONDO:equivalentTo"} xref: SCTID:253103006 {source="MONDO:equivalentTo"} @@ -316573,6 +327902,7 @@ replaced_by: MONDO:0100062 id: MONDO:0016022 name: early myoclonic encephalopathy def: "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." [Orphanet:1935] +subset: gard_rare {source="GARD:16581"} subset: ordo_clinical_syndrome {source="Orphanet:1935"} synonym: "early myoclonic encephalopathy" EXACT [MONDO:0002506] synonym: "early myoclonic encephalopathy with suppression-bursts" EXACT [Orphanet:1935] @@ -316586,6 +327916,7 @@ synonym: "myoclonic seizure disorder" EXACT [DOID:308] synonym: "myoclonus epilepsy" RELATED [GARD:0007142] xref: DOID:308 {source="MONDO:equivalentTo"} xref: EFO:1001900 {source="MONDO:equivalentTo"} +xref: GARD:16581 {source="Orphanet:1935"} xref: ICD10CM:G40.4 {source="Orphanet:1935/e", source="Orphanet:1935/inclusion", source="Orphanet:1935"} xref: MESH:D004831 {source="DOID:308"} xref: NCIT:C116593 {source="MONDO:equivalentTo"} @@ -316627,7 +327958,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016025 name: myoclonic-astatic epilepsy def: "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." [Orphanet:1942] -subset: gard_rare +subset: gard_rare {source="GARD:2169"} subset: ordo_disease {source="Orphanet:1942"} synonym: "Doose syndrome" EXACT [GARD:0002169, Orphanet:1942] synonym: "EMAS" EXACT ABBREVIATION [Orphanet:1942] @@ -316638,6 +327969,7 @@ synonym: "mae" RELATED [Orphanet:1942] synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169] synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942] synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942] +xref: GARD:2169 {source="Orphanet:1942"} xref: ICD10CM:G40.4 {source="Orphanet:1942", source="Orphanet:1942/attributed", source="Orphanet:1942/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo"} @@ -316653,8 +327985,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2169/myoclon id: MONDO:0016026 name: infant epilepsy with migrant focal crisis def: "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown." [Orphanet:1943] -subset: gard_rare {source="GARD:0002995"} +subset: gard_rare {source="GARD:2995"} subset: ordo_disease {source="Orphanet:1943"} +xref: GARD:2995 {source="Orphanet:1943"} xref: ICD10CM:G40.4 {source="Orphanet:1943", source="Orphanet:1943/ntbt"} xref: Orphanet:1943 {source="MONDO:equivalentTo"} xref: SCTID:724274009 {source="MONDO:equivalentTo"} @@ -316667,6 +328000,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2995/infant- id: MONDO:0016027 name: benign neonatal seizures def: "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." [Orphanet:1949] +subset: gard_rare {source="GARD:1519"} subset: ordo_disease {source="Orphanet:1949"} synonym: "benign familal neonatal seizures" EXACT [NCIT:C117307] synonym: "benign familial convulsion" EXACT [NCIT:C117307] @@ -316677,6 +328011,7 @@ synonym: "benign neonatal convulsions" EXACT [DOID:14264] synonym: "BFNS" EXACT ABBREVIATION [Orphanet:1949] synonym: "seizures, benign familial neonatal" EXACT [OMIMPS:121200] xref: DOID:14264 {source="MONDO:equivalentTo"} +xref: GARD:1519 {source="Orphanet:1949"} xref: ICD10CM:G40.3 {source="Orphanet:1949/attributed", source="Orphanet:1949/ntbt", source="Orphanet:1949"} xref: MedDRA:10067866 {source="Orphanet:1949/e", source="Orphanet:1949"} xref: MESH:C535466 {source="Orphanet:1949/e", source="Orphanet:1949"} @@ -316721,8 +328056,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016029 name: esthesioneuroblastoma def: "A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." [https://orcid.org/0000-0001-5208-3432, Orphanet:1957] +subset: gard_rare {source="GARD:2197"} subset: ordo_disease {source="Orphanet:1957"} synonym: "olfactory neuroblastoma" RELATED [Orphanet:1957] +xref: GARD:2197 {source="Orphanet:1957"} xref: ICD10CM:C30.0 {source="Orphanet:1957/ntbt", source="Orphanet:1957"} xref: Orphanet:1957 {source="MONDO:equivalentTo"} xref: SCTID:422886007 {source="MONDO:equivalentTo"} @@ -316733,7 +328070,7 @@ is_a: MONDO:0016713 {source="Orphanet:1957"} ! central nervous system Ewing sarc id: MONDO:0016030 name: Evans syndrome def: "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." [Orphanet:1959] -subset: gard_rare {source="GARD:0006389"} +subset: gard_rare {source="GARD:6389"} subset: ordo_disease {source="Orphanet:1959"} synonym: "autoimmune hemolytic anaemia and autoimmune thrombocytopenia" EXACT OMO:0003005 [] synonym: "autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [Orphanet:1959] @@ -316741,6 +328078,7 @@ synonym: "Evan syndrome" RELATED [GARD:0006389] synonym: "Evans' syndrome" EXACT [MONDO:0004683] synonym: "immune pancytopenia" EXACT [Orphanet:1959] xref: DOID:8931 {source="MONDO:equivalentTo"} +xref: GARD:6389 {source="Orphanet:1959"} xref: ICD10CM:D69.3 {source="Orphanet:1959/ntbt", source="Orphanet:1959"} xref: ICD10CM:D69.41 {source="DOID:8931", source="MONDO:equivalentTo"} xref: ICD9:287.32 {source="DOID:8931", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -316761,10 +328099,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6389/evans-s [Term] id: MONDO:0016031 name: facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome +subset: gard_rare {source="GARD:2221"} subset: ordo_malformation_syndrome {source="Orphanet:1969"} synonym: "faces syndrome" EXACT [Orphanet:1969] synonym: "facial features (unique), anorexia, cachexia, eye and skin anomalies" RELATED [GARD:0002221] synonym: "Friedman-Goodman syndrome" EXACT [Orphanet:1969] +xref: GARD:2221 {source="Orphanet:1969"} xref: ICD10CM:Q87.0 {source="Orphanet:1969/attributed", source="Orphanet:1969/ntbt", source="Orphanet:1969"} xref: MESH:C536384 {source="Orphanet:1969/e", source="MONDO:equivalentTo", source="Orphanet:1969"} xref: Orphanet:1969 {source="MONDO:equivalentTo"} @@ -316777,9 +328117,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0016032 name: femoral agenesis/hypoplasia def: "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." [Orphanet:1987] +subset: gard_rare {source="GARD:1503"} subset: ordo_malformation_syndrome {source="Orphanet:1987"} synonym: "congenital short femur" EXACT [Orphanet:1987] synonym: "femoral intercalary meromelia" EXACT [Orphanet:1987] +xref: GARD:1503 {source="Orphanet:1987"} xref: ICD10CM:Q72.4 {source="Orphanet:1987/specific", source="Orphanet:1987", source="Orphanet:1987/e"} xref: ICD9:755.34 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1987 {source="MONDO:equivalentTo"} @@ -316794,6 +328136,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016033 name: Cornelia de Lange syndrome def: "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." [] +subset: gard_rare {source="GARD:10109"} subset: ordo_malformation_syndrome {source="Orphanet:199"} synonym: "Brachmann de Lange syndrome" EXACT [DOID:11725] synonym: "Brachmann-de Lange syndrome" EXACT [Orphanet:199] @@ -316801,6 +328144,7 @@ synonym: "CDLS" RELATED ABBREVIATION [GARD:0010109] synonym: "Cornelia de Lange syndrome" EXACT CLINGEN_PREFERRED [] synonym: "De Lange syndrome" EXACT [DOID:11725] xref: DOID:11725 {source="MONDO:equivalentTo"} +xref: GARD:10109 {source="Orphanet:199"} xref: ICD10CM:Q87.1 {source="DOID:11725", source="Orphanet:199/ntbt", source="Orphanet:199/inclusion", source="Orphanet:199"} xref: MedDRA:10056354 {source="Orphanet:199/e", source="Orphanet:199"} xref: MESH:D003635 {source="Orphanet:199/e", source="DOID:11725", source="Orphanet:199"} @@ -316827,7 +328171,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016034 name: obsolete cleft lip with or without cleft palate +subset: gard_rare {source="GARD:18754"} synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991] +xref: GARD:18754 {source="Orphanet:1991", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q36.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"} @@ -316851,12 +328197,13 @@ is_obsolete: true id: MONDO:0016035 name: Nelson syndrome def: "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." [NCIT:P378] -subset: gard_rare {source="GARD:0007170"} +subset: gard_rare {source="GARD:7170"} subset: ordo_disease {source="Orphanet:199244"} synonym: "dermal Ridges" RELATED [GARD:0007170] synonym: "Nelson's syndrome" EXACT [DOID:4968] synonym: "Ridges-off-the-end syndrome" RELATED [GARD:0007170] xref: DOID:4968 {source="MONDO:equivalentTo"} +xref: GARD:7170 {source="Orphanet:199244"} xref: ICD10CM:E24.1 {source="Orphanet:199244", source="Orphanet:199244/e", source="DOID:4968"} xref: MedDRA:10028913 {source="Orphanet:199244", source="Orphanet:199244/e"} xref: MESH:C531754 {source="MONDO:equivalentTo"} @@ -316883,9 +328230,11 @@ id: MONDO:0016037 name: superficial Fibromatosis def: "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." [NCIT:C6814] subset: disease_grouping +subset: gard_rare {source="GARD:20328"} subset: ordo_group_of_disorders {source="Orphanet:199257"} synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814] xref: EFO:1000556 {source="MONDO:equivalentTo"} +xref: GARD:20328 {source="Orphanet:199257"} xref: ICD10CM:M72.8 {source="Orphanet:199257/ntbt", source="Orphanet:199257"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="MONDO:exact-label-match"} @@ -316899,6 +328248,7 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:199257"} ! obs id: MONDO:0016038 name: calcified aponeurotic fibroma def: "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." [NCIT:C4818] +subset: gard_rare {source="GARD:20329"} subset: ordo_disease {source="Orphanet:199260"} synonym: "calcifying aponeurotic fibroma" RELATED [Orphanet:199260] synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818] @@ -316906,6 +328256,7 @@ synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260] synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818] synonym: "Keasby tumor" EXACT [Orphanet:199260] synonym: "Keasby tumour" EXACT OMO:0003005 [] +xref: GARD:20329 {source="Orphanet:199260"} xref: ICD10CM:M72.8 {source="Orphanet:199260/ntbt", source="Orphanet:199260"} xref: NCIT:C4818 {source="MONDO:equivalentTo"} xref: Orphanet:199260 {source="MONDO:equivalentTo"} @@ -316917,7 +328268,7 @@ is_a: MONDO:0016037 {source="Orphanet:199260"} ! superficial Fibromatosis [Term] id: MONDO:0016039 name: infantile digital fibromatosis -subset: gard_rare {source="GARD:0008487"} +subset: gard_rare {source="GARD:8487"} subset: ordo_disease {source="Orphanet:199267"} synonym: "asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes" RELATED [GARD:0008487] synonym: "digital fibrous tumor of Reye" EXACT [NCIT:C3456] @@ -316934,6 +328285,7 @@ synonym: "Reye tumour" EXACT OMO:0003005 [] synonym: "Reye's tumor" EXACT [NCIT:C3456, Orphanet:199267] synonym: "Reye's tumour" EXACT OMO:0003005 [] xref: EFO:1000301 {source="MONDO:equivalentTo"} +xref: GARD:8487 {source="Orphanet:199267"} xref: HP:0025197 {source="MONDO:otherHierarchy"} xref: ICD10CM:M72.8 {source="Orphanet:199267/ntbt", source="Orphanet:199267"} xref: ICD9:238.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -316951,11 +328303,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8487/infanti id: MONDO:0016040 name: harlequin syndrome def: "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." [Orphanet:199282] -subset: gard_rare {source="GARD:0008610"} +subset: gard_rare {source="GARD:8610"} subset: ordo_disease {source="Orphanet:199282"} synonym: "progressive isolated segmental anhidrosis" EXACT [Orphanet:199282] synonym: "sudden onset of unilateral flushing and sweating" RELATED [GARD:0008610] synonym: "unilateral loss of facial flushing and sweating with contralateral anhidrosis" RELATED [GARD:0008610] +xref: GARD:8610 {source="Orphanet:199282"} xref: ICD10CM:G90.8 {source="Orphanet:199282/attributed", source="Orphanet:199282/ntbt", source="Orphanet:199282"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535634 {source="Orphanet:199282/e", source="MONDO:equivalentTo", source="Orphanet:199282"} @@ -316970,7 +328323,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8610/harlequ id: MONDO:0016041 name: congenital microgastria def: "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." [Orphanet:199293] +subset: gard_rare {source="GARD:20330"} subset: ordo_morphological_anomaly {source="Orphanet:199293"} +xref: GARD:20330 {source="Orphanet:199293"} xref: ICD10CM:Q40.2 {source="Orphanet:199293/ntbt", source="Orphanet:199293"} xref: ICD9:750.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:199293 {source="MONDO:equivalentTo"} @@ -316985,7 +328340,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016042 name: late-onset isolated ACTH deficiency def: "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." [Orphanet:199299] +subset: gard_rare {source="GARD:20331"} subset: ordo_disease {source="Orphanet:199299"} +xref: GARD:20331 {source="Orphanet:199299"} xref: ICD10CM:E23.6 {source="Orphanet:199299", source="Orphanet:199299/ntbt"} xref: Orphanet:199299 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone deficiency @@ -316994,9 +328351,11 @@ is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone defi id: MONDO:0016043 name: isolated cleft lip def: "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." [Orphanet:199302] +subset: gard_rare {source="GARD:17091"} subset: ordo_morphological_anomaly {source="Orphanet:199302"} synonym: "isolated cleft lip (disease)" EXACT [] synonym: "nonsyndromic cleft lip (disease)" EXACT [MONDO:patterns/isolated] +xref: GARD:17091 {source="Orphanet:199302"} xref: ICD10CM:Q36.0 {source="Orphanet:199302", source="Orphanet:199302/btnt"} xref: ICD10CM:Q36.1 {source="Orphanet:199302", source="Orphanet:199302/btnt"} xref: ICD10CM:Q36.9 {source="Orphanet:199302", source="Orphanet:199302/btnt"} @@ -317013,11 +328372,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016044 name: cleft lip/palate def: "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." [Orphanet:199306] +subset: gard_rare {source="GARD:17092"} subset: ordo_morphological_anomaly {source="Orphanet:199306"} synonym: "alveolar cleft lip and palate" EXACT [Orphanet:199306] synonym: "cleft lip and palate" EXACT [Orphanet:199306] synonym: "cleft lip-alveolus-palate syndrome" EXACT [Orphanet:199306] synonym: "FLP" EXACT ABBREVIATION [Orphanet:199306] +xref: GARD:17092 {source="Orphanet:199306"} xref: ICD10CM:Q35-Q37 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q37.0 {source="Orphanet:199306/btnt", source="Orphanet:199306"} xref: ICD10CM:Q37.1 {source="Orphanet:199306/btnt", source="Orphanet:199306"} @@ -317043,8 +328404,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016045 name: tetragametic chimerism def: "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." [Orphanet:199310] +subset: gard_rare {source="GARD:20332"} subset: ordo_malformation_syndrome {source="Orphanet:199310"} synonym: "46,XX/46,XY chimerism" EXACT [Orphanet:199310] +xref: GARD:20332 {source="Orphanet:199310"} xref: ICD10CM:Q99.0 {source="Orphanet:199310", source="Orphanet:199310/e", source="Orphanet:199310/specific"} xref: Orphanet:199310 {source="MONDO:equivalentTo"} xref: UMLS:CN200724 {source="MONDO:equivalentTo"} @@ -317054,7 +328417,9 @@ is_a: MONDO:0017975 {source="Orphanet:199310"} ! sex chromosome disorder of sex id: MONDO:0016046 name: familial clubfoot with or without associated lower limb anomalies def: "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." [Orphanet:199315] +subset: gard_rare {source="GARD:17093"} subset: ordo_malformation_syndrome {source="Orphanet:199315"} +xref: GARD:17093 {source="Orphanet:199315"} xref: ICD10CM:Q66.8 {source="Orphanet:199315", source="Orphanet:199315/attributed", source="Orphanet:199315/ntbt"} xref: Orphanet:199315 {source="MONDO:equivalentTo"} xref: UMLS:CN200725 {source="MONDO:equivalentTo"} @@ -317069,8 +328434,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016047 name: endophthalmitis def: "An infectious process affecting the internal structures of the eye." [NCIT:C34586] +subset: gard_rare {source="GARD:20333"} subset: ordo_disease {source="Orphanet:199323"} xref: DOID:4692 {source="MONDO:equivalentTo"} +xref: GARD:20333 {source="Orphanet:199323"} xref: ICD10CM:H44.0 {source="Orphanet:199323/btnt", source="Orphanet:199323"} xref: ICD10CM:H44.1 {source="Orphanet:199323/btnt", source="Orphanet:199323"} xref: ICD9:360.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -317092,7 +328459,9 @@ intersection_of: disease_has_inflammation_site UBERON:0010230 ! eyeball of camer id: MONDO:0016048 name: isolated autosomal dominant hypomagnesemia, Glaudemans type def: "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." [Orphanet:199326] +subset: gard_rare {source="GARD:20334"} subset: ordo_disease {source="Orphanet:199326"} +xref: GARD:20334 {source="Orphanet:199326"} xref: ICD10CM:E83.4 {source="Orphanet:199326", source="Orphanet:199326/attributed", source="Orphanet:199326/ntbt"} xref: Orphanet:199326 {source="MONDO:equivalentTo"} xref: SCTID:722008003 {source="MONDO:equivalentTo"} @@ -317103,7 +328472,9 @@ is_a: MONDO:0017626 {source="Orphanet:199326"} ! familial primary hypomagnesemia id: MONDO:0016049 name: congenital myopathy, Paradas type def: "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." [Orphanet:199329] +subset: gard_rare {source="GARD:20335"} subset: ordo_disease {source="Orphanet:199329"} +xref: GARD:20335 {source="Orphanet:199329"} xref: ICD10CM:G71.2 {source="Orphanet:199329", source="Orphanet:199329/attributed", source="Orphanet:199329/ntbt"} xref: Orphanet:199329 {source="MONDO:equivalentTo"} is_a: MONDO:0016145 {source="Orphanet:199329"} ! qualitative or quantitative defects of dysferlin @@ -317123,12 +328494,14 @@ replaced_by: MONDO:0011841 id: MONDO:0016051 name: cleft lip-retinopathy syndrome def: "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." [Orphanet:1995] +subset: gard_rare {source="GARD:435"} subset: ordo_malformation_syndrome {source="Orphanet:1995"} synonym: "Ausems Wittebol-Post Hennekam syndrome" RELATED [GARD:0000435] synonym: "Ausems-Wittebol Post-Hennekam syndrome" EXACT [Orphanet:1995] synonym: "cleft lip with progressive retinopathy" RELATED [GARD:0000435] synonym: "cleft lip-cone rod dystrophy syndrome" EXACT [Orphanet:1995] synonym: "cleft lip-progressive retinopathy syndrome" EXACT [Orphanet:1995] +xref: GARD:435 {source="Orphanet:1995"} xref: ICD10CM:Q87.8 {source="Orphanet:1995", source="Orphanet:1995/attributed", source="Orphanet:1995/ntbt"} xref: MESH:C538272 {source="MONDO:equivalentTo"} xref: Orphanet:1995 {source="MONDO:equivalentTo"} @@ -317142,8 +328515,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016052 name: atypical autism def: "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" [Orphanet:199627] +subset: gard_rare {source="GARD:20336"} subset: ordo_disease {source="Orphanet:199627"} xref: DOID:0060042 {source="MONDO:equivalentTo"} +xref: GARD:20336 {source="Orphanet:199627"} xref: ICD9:299.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003747 {source="Orphanet:199627/e", source="Orphanet:199627"} xref: Orphanet:199627 {source="MONDO:equivalentTo"} @@ -317156,7 +328531,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare id: MONDO:0016053 name: isolated cerebellar vermis hypoplasia def: "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." [Orphanet:199630] +subset: gard_rare {source="GARD:20337"} subset: ordo_morphological_anomaly {source="Orphanet:199630"} +xref: GARD:20337 {source="Orphanet:199630"} xref: ICD10CM:Q04.3 {source="Orphanet:199630/ntbt", source="Orphanet:199630"} xref: Orphanet:199630 {source="MONDO:equivalentTo"} xref: SCTID:766709000 {source="MONDO:equivalentTo"} @@ -317168,7 +328545,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016054 name: obsolete cerebral malformation +subset: gard_rare {source="GARD:20338"} synonym: "brain malformation" EXACT [Orphanet:199633] +xref: GARD:20338 {source="MONDO:obsoleteEquivalent", source="Orphanet:199633"} xref: Orphanet:199633 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0266449 {source="Orphanet:199633", source="MONDO:notFoundInDiseaseSubset"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:199633", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! obsolete non-syndromic central nervous system malformation @@ -317182,7 +328561,9 @@ is_obsolete: true id: MONDO:0016055 name: obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:20339"} subset: ordo_group_of_disorders {source="Orphanet:199639"} +xref: GARD:20339 {source="MONDO:obsoleteEquivalent", source="Orphanet:199639"} xref: Orphanet:199639 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200739 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -317193,11 +328574,13 @@ is_obsolete: true [Term] id: MONDO:0016056 name: isolated congenital microcephaly +subset: gard_rare {source="GARD:3603"} subset: ordo_malformation_syndrome {source="Orphanet:199642"} synonym: "microcephaly, primary" EXACT [MONDO:design_pattern] synonym: "primary microcephaly" EXACT [DOID:0070297] synonym: "true microcephaly" EXACT [DOID:0070297] xref: DOID:0070297 {source="MONDO:equivalentTo"} +xref: GARD:3603 {source="Orphanet:199642"} xref: ICD10CM:Q02 {source="Orphanet:199642/attributed", source="Orphanet:199642/ntbt", source="Orphanet:199642"} xref: MedDRA:10027534 {source="Orphanet:199642", source="Orphanet:199642/e"} xref: Orphanet:199642 {source="MONDO:equivalentTo"} @@ -317210,11 +328593,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0016057 name: isolated encephalocele def: "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." [MESH:D004677] +subset: gard_rare {source="GARD:6333"} subset: ordo_morphological_anomaly {source="Orphanet:199647"} synonym: "bifid cranium" RELATED [GARD:0006333] synonym: "craniocele" RELATED [GARD:0006333] synonym: "cranium bifidum" RELATED [GARD:0006333] synonym: "encephalocele" RELATED [GARD:0006333] +xref: GARD:6333 {source="Orphanet:199647"} xref: ICD10CM:Q01.0 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} xref: ICD10CM:Q01.1 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} xref: ICD10CM:Q01.2 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} @@ -317229,7 +328614,9 @@ is_a: MONDO:0017078 {source="Orphanet:199647"} ! cephalocele id: MONDO:0016058 name: paroxysmal dystonia subset: disease_grouping +subset: gard_rare {source="GARD:20340"} subset: ordo_group_of_disorders {source="Orphanet:200037"} +xref: GARD:20340 {source="Orphanet:200037"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:200037 {source="MONDO:equivalentTo"} xref: SCTID:230310003 {source="MONDO:equivalentTo"} @@ -317240,8 +328627,10 @@ is_a: MONDO:0020065 {source="Orphanet:200037"} ! combined dystonia id: MONDO:0016059 name: cleft lip/palate-deafness-sacral lipoma syndrome def: "Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." [Orphanet:2003] +subset: gard_rare {source="GARD:18755"} subset: ordo_malformation_syndrome {source="Orphanet:2003"} synonym: "Lowry-Yong syndrome" EXACT [Orphanet:2003] +xref: GARD:18755 {source="Orphanet:2003"} xref: ICD10CM:Q87.8 {source="Orphanet:2003", source="Orphanet:2003/attributed", source="Orphanet:2003/ntbt"} xref: Orphanet:2003 {source="MONDO:equivalentTo"} xref: SCTID:716007007 {source="MONDO:equivalentTo"} @@ -317252,6 +328641,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0016060 name: laryngotracheoesophageal cleft def: "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." [Orphanet:2004] +subset: gard_rare {source="GARD:3188"} subset: ordo_morphological_anomaly {source="Orphanet:2004"} synonym: "congenital cleft larynx" EXACT [NCIT:C98622] synonym: "Larnygeotracheoesophageal cleft" EXACT [NCIT:C98622] @@ -317261,6 +328651,7 @@ synonym: "laryngo-tracheo-esophageal diastema" EXACT [Orphanet:2004] synonym: "LC" EXACT ABBREVIATION [Orphanet:2004] synonym: "LTEC" EXACT ABBREVIATION [Orphanet:2004] synonym: "tracheal cleft" EXACT [NCIT:C98622] +xref: GARD:3188 {source="Orphanet:2004"} xref: ICD10CM:Q32.1 {source="Orphanet:2004/ntbt", source="Orphanet:2004"} xref: MESH:C537875 {source="MONDO:equivalentTo"} xref: NCIT:C98622 {source="MONDO:equivalentTo"} @@ -317274,7 +328665,9 @@ relationship: has_characteristic MONDO:0021136 ! rare [Term] id: MONDO:0016061 name: immunodeficiency with factor H anomaly +subset: gard_rare {source="GARD:17099"} subset: ordo_disease {source="Orphanet:200421"} +xref: GARD:17099 {source="Orphanet:200421"} xref: ICD10CM:D84.1 {source="Orphanet:200421", source="Orphanet:200421/attributed", source="Orphanet:200421/ntbt"} xref: Orphanet:200421 {source="MONDO:equivalentTo"} xref: UMLS:C0398777 {source="Orphanet:200421", source="MONDO:notFoundInDiseaseSubset"} @@ -317285,8 +328678,10 @@ property_value: confidence "1.2474747474747478" xsd:double id: MONDO:0016062 name: median cleft lip/mandibule def: "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." [Orphanet:2006] +subset: gard_rare {source="GARD:18756"} subset: ordo_morphological_anomaly {source="Orphanet:2006"} synonym: "median cleft lower facial stage" EXACT [Orphanet:2006] +xref: GARD:18756 {source="Orphanet:2006"} xref: ICD10CM:Q36.1 {source="Orphanet:2006", source="Orphanet:2006/ntbt"} xref: Orphanet:2006 {source="MONDO:equivalentTo"} xref: SCTID:723383005 {source="MONDO:equivalentTo"} @@ -317299,6 +328694,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016063 name: Cowden disease def: "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group." [Orphanet:201] +subset: gard_rare {source="GARD:6202"} subset: ordo_disease {source="Orphanet:201"} synonym: "CD" RELATED ABBREVIATION [GARD:0006202] synonym: "Cowden disease" EXACT [NCIT:C3076, Orphanet:201] @@ -317310,6 +328706,7 @@ synonym: "MHAM" RELATED ABBREVIATION [GARD:0006202] synonym: "multiple hamartoma syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:201] synonym: "PTEN hamartoma syndrome" RELATED EXCLUDE [NCIT:C3076] xref: DOID:6457 {source="MONDO:equivalentTo"} +xref: GARD:6202 {source="Orphanet:201"} xref: ICD10CM:Q85.8 {source="Orphanet:201/attributed", source="Orphanet:201/ntbt", source="Orphanet:201"} xref: MedDRA:10051906 {source="Orphanet:201/e", source="Orphanet:201"} xref: MESH:D006223 {source="DOID:6457", source="Orphanet:201/e", source="MONDO:equivalentTo", source="Orphanet:201"} @@ -317334,11 +328731,13 @@ id: MONDO:0016064 name: cleft palate def: "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." [Orphanet:2014] subset: disease_grouping +subset: gard_rare {source="GARD:1896"} subset: ordo_group_of_disorders {source="Orphanet:2014"} synonym: "cleft velum" RELATED EXCLUDE [DOID:674] synonym: "palatoschisis" EXACT [DOID:674] synonym: "uranostaphyloschisis" EXACT [DOID:674] xref: DOID:674 {source="MONDO:equivalentTo"} +xref: GARD:1896 {source="Orphanet:2014"} xref: ICD10CM:Q35 {source="DOID:674"} xref: ICD10CM:Q35.1 {source="Orphanet:2014", source="Orphanet:2014/btnt"} xref: ICD10CM:Q35.3 {source="Orphanet:2014", source="Orphanet:2014/btnt"} @@ -317368,10 +328767,11 @@ is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skel id: MONDO:0016065 name: cleft palate-short stature-vertebral anomalies syndrome def: "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." [Orphanet:2015] -subset: gard_rare +subset: gard_rare {source="GARD:1392"} subset: ordo_malformation_syndrome {source="Orphanet:2015"} synonym: "cleft palate short stature vertebral anomalies" RELATED [GARD:0001392] synonym: "Mathieu-De Broca-Bony syndrome" EXACT [GARD:0001392, Orphanet:2015] +xref: GARD:1392 {source="Orphanet:2015"} xref: ICD10CM:Q87.0 {source="Orphanet:2015/attributed", source="Orphanet:2015/ntbt", source="Orphanet:2015"} xref: Orphanet:2015 {source="MONDO:equivalentTo", source="GARD:0001392"} xref: SCTID:719466009 {source="MONDO:equivalentTo"} @@ -317387,11 +328787,12 @@ id: MONDO:0016066 name: sternal cleft def: "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." [Orphanet:2017] subset: disease_grouping -subset: gard_rare {source="GARD:0005012"} +subset: gard_rare {source="GARD:5012"} subset: ordo_group_of_disorders {source="Orphanet:2017"} synonym: "cleft sternum" EXACT [Orphanet:2017] synonym: "congenital sternal cleft" RELATED [GARD:0005012] synonym: "sternum bifidum" EXACT [Orphanet:2017] +xref: GARD:5012 {source="Orphanet:2017"} xref: ICD10CM:Q76.7 {source="Orphanet:2017", source="Orphanet:2017/ntbt"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537489 {source="MONDO:equivalentTo", source="Orphanet:2017", source="Orphanet:2017/e"} @@ -317406,11 +328807,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5012/sternal id: MONDO:0016067 name: Crandall syndrome def: "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." [https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome] -subset: gard_rare {source="GARD:0001561"} +subset: gard_rare {source="GARD:1561"} subset: ordo_disease {source="Orphanet:202"} synonym: "alopecia deafness hypogonadism" RELATED [GARD:0001561] synonym: "alopecia-deafness-hypogonadism syndrome" EXACT [Orphanet:202] synonym: "alopecia-sensorineural deafness-hypogonadism syndrome" EXACT [Orphanet:202] +xref: GARD:1561 {source="Orphanet:202"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:202 {source="MONDO:equivalentTo"} xref: SCTID:278098005 {source="MONDO:equivalentTo"} @@ -317422,9 +328824,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1561/crandal id: MONDO:0016068 name: fibrochondrogenesis def: "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." [https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis] -subset: gard_rare {source="GARD:0002321"} +subset: gard_rare {source="GARD:2321"} subset: ordo_disease {source="Orphanet:2021"} xref: DOID:0060465 {source="MONDO:equivalentTo"} +xref: GARD:2321 {source="Orphanet:2021"} xref: ICD10CM:Q77.7 {source="Orphanet:2021/attributed", source="Orphanet:2021/ntbt", source="Orphanet:2021"} xref: MESH:C562524 {source="DOID:0060465", source="MONDO:equivalentTo"} xref: OMIMPS:228520 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -317442,12 +328845,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2321/fibroch id: MONDO:0016070 name: hereditary gingival fibromatosis def: "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." [Orphanet:2024] +subset: gard_rare {source="GARD:16582"} subset: ordo_malformation_syndrome {source="Orphanet:2024"} synonym: "autosomal dominant gingival fibromatosis" EXACT [Orphanet:2024] synonym: "autosomal dominant gingival hyperplasia" EXACT [Orphanet:2024] synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466] synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024] xref: DOID:0060466 {source="MONDO:equivalentTo"} +xref: GARD:16582 {source="Orphanet:2024"} xref: ICD10CM:K06.1 {source="Orphanet:2024/attributed", source="Orphanet:2024/ntbt", source="Orphanet:2024"} xref: MESH:C562884 {source="DOID:0060466"} xref: OMIMPS:135300 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -317463,11 +328868,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135300"} ! inheri id: MONDO:0016071 name: juvenile hyaline fibromatosis def: "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." [Orphanet:2028] +subset: gard_rare {source="GARD:16583"} subset: ordo_disease {source="Orphanet:2028"} synonym: "mesenchymal dysplasia" EXACT [NCIT:C98297] synonym: "Molluscum fibrosum" EXACT [NCIT:C98297] synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028] synonym: "Puretic syndrome" EXACT [Orphanet:2028] +xref: GARD:16583 {source="Orphanet:2028"} xref: ICD10CM:M72.8 {source="Orphanet:2028", source="Orphanet:2028/attributed", source="Orphanet:2028/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057770 {source="Orphanet:2028", source="Orphanet:2028/e"} @@ -317488,7 +328895,9 @@ property_value: confidence "6.435897435897435" xsd:double id: MONDO:0016072 name: obsolete anomaly of puberty or/and menstrual cycle of genetic origin def: "OBSOLETE. An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20341"} synonym: "genetic anomaly of puberty or/and menstrual cycle" EXACT [MONDO:patterns/genetic] +xref: GARD:20341 {source="Orphanet:202940", source="MONDO:obsoleteEquivalent"} xref: Orphanet:202940 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -317501,11 +328910,13 @@ id: MONDO:0016073 name: syndromic microphthalmia def: "A microphthalmia that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: disease_grouping +subset: gard_rare {source="GARD:20342"} subset: ordo_group_of_disorders {source="Orphanet:202948"} synonym: "microphthalmia, syndromic" EXACT [OMIMPS:309800] synonym: "syndrome associated with microphthalmia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic microphthalmia" EXACT [MONDO:0000064, MONDO:patterns/syndromic] xref: DOID:0080636 {source="MONDO:equivalentTo"} +xref: GARD:20342 {source="Orphanet:202948"} xref: OMIMPS:309800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:202948 {source="MONDO:equivalentTo"} xref: UMLS:CN226833 {source="MONDO:equivalentTo"} @@ -317525,9 +328936,11 @@ id: MONDO:0016075 name: filariasis def: "A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation." [Orphanet:2034] subset: disease_grouping +subset: gard_rare {source="GARD:18757"} subset: ordo_group_of_disorders {source="Orphanet:2034"} synonym: "disease due to superfamily Filarioidea" EXACT [DOID:1080] xref: DOID:1080 {source="MONDO:equivalentTo"} +xref: GARD:18757 {source="Orphanet:2034"} xref: ICD10CM:B74 {source="MONDO:equivalentTo", source="DOID:1080"} xref: ICD10CM:B74.0 {source="Orphanet:2034", source="Orphanet:2034/e"} xref: ICD10CM:B74.1 {source="Orphanet:2034", source="Orphanet:2034/e"} @@ -317560,12 +328973,14 @@ replaced_by: MONDO:0005761 [Term] id: MONDO:0016077 name: congenital aortopulmonary window +subset: gard_rare {source="GARD:738"} subset: ordo_morphological_anomaly {source="Orphanet:2037"} synonym: "aorta-pulmonary artery fistula" RELATED [GARD:0000738] synonym: "aorto-pulmonary artery fistula" RELATED [GARD:0000738] synonym: "aortopulmonary fistula" RELATED [GARD:0000738] synonym: "congenital aortopulmonary artery fistula" EXACT [Orphanet:2037] synonym: "congenital aortopulmonary septal defect" EXACT [Orphanet:2037] +xref: GARD:738 {source="Orphanet:2037"} xref: ICD10CM:Q21.4 {source="Orphanet:2037", source="Orphanet:2037/e"} xref: MESH:C537782 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"} xref: Orphanet:2037 {source="MONDO:equivalentTo"} @@ -317577,7 +328992,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016078 name: congenital systemic arteriovenous fistula +subset: gard_rare {source="GARD:18758"} subset: ordo_morphological_anomaly {source="Orphanet:2039"} +xref: GARD:18758 {source="Orphanet:2039"} xref: ICD10CM:Q27.3 {source="Orphanet:2039", source="Orphanet:2039/ntbt"} xref: Orphanet:2039 {source="MONDO:equivalentTo"} is_a: MONDO:0020296 {source="Orphanet:2039"} ! congenital arteriovenous fistula @@ -317586,8 +329003,10 @@ is_a: MONDO:0020296 {source="Orphanet:2039"} ! congenital arteriovenous fistula id: MONDO:0016079 name: sporadic Creutzfeldt-Jakob disease def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD)." [Orphanet:204] +subset: gard_rare {source="GARD:6956"} subset: ordo_disease {source="Orphanet:204"} synonym: "sporadic CJD" EXACT [Orphanet:204] +xref: GARD:6956 {source="Orphanet:204"} xref: ICD10CM:A81.0 {source="Orphanet:204/ntbt", source="Orphanet:204"} xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011384 {source="Orphanet:204", source="Orphanet:204/e"} @@ -317602,8 +329021,9 @@ property_value: confidence "3.0" xsd:double id: MONDO:0016080 name: congenital bronchobiliary fistula def: "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." [Orphanet:2040] -subset: gard_rare {source="GARD:0001475"} +subset: gard_rare {source="GARD:1475"} subset: ordo_morphological_anomaly {source="Orphanet:2040"} +xref: GARD:1475 {source="Orphanet:2040"} xref: ICD10CM:Q32.4 {source="Orphanet:2040/ntbt", source="Orphanet:2040"} xref: Orphanet:2040 {source="MONDO:equivalentTo"} xref: SCTID:719452004 {source="MONDO:equivalentTo"} @@ -317617,9 +329037,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1475/congeni id: MONDO:0016081 name: coronary arterial fistulas def: "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." [Orphanet:2041] +subset: gard_rare {source="GARD:1533"} subset: ordo_morphological_anomaly {source="Orphanet:2041"} synonym: "Coronaro-cardiac fistula" EXACT [Orphanet:2041] synonym: "coronary arterial malformations" EXACT [Orphanet:2041] +xref: GARD:1533 {source="Orphanet:2041"} xref: ICD10CM:Q24.5 {source="Orphanet:2041/ntbt", source="Orphanet:2041"} xref: MedDRA:10069441 {source="Orphanet:2041/e", source="Orphanet:2041"} xref: Orphanet:2041 {source="MONDO:equivalentTo"} @@ -317640,10 +329062,11 @@ consider: MONDO:0008586 id: MONDO:0016083 name: FLOTCH syndrome def: "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." [Orphanet:2045] -subset: gard_rare {source="GARD:0002346"} +subset: gard_rare {source="GARD:2346"} subset: ordo_disease {source="Orphanet:2045"} synonym: "familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity" RELATED [GARD:0002346] synonym: "leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome" EXACT [Orphanet:2045] +xref: GARD:2346 {source="Orphanet:2045"} xref: ICD10CM:L60.8 {source="Orphanet:2045", source="Orphanet:2045/attributed", source="Orphanet:2045/ntbt"} xref: MESH:C537065 {source="Orphanet:2045", source="MONDO:equivalentTo", source="Orphanet:2045/e"} xref: Orphanet:2045 {source="MONDO:equivalentTo"} @@ -317661,10 +329084,12 @@ replaced_by: MONDO:0009044 id: MONDO:0016085 name: Cole-Carpenter syndrome def: "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2050] +subset: gard_rare {source="GARD:1425"} subset: ordo_malformation_syndrome {source="Orphanet:2050"} synonym: "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome" EXACT [Orphanet:2050] synonym: "Cole Carpenter syndrome" RELATED [GARD:0001425] xref: DOID:0060438 {source="MONDO:equivalentTo"} +xref: GARD:1425 {source="Orphanet:2050"} xref: ICD10CM:Q78.0 {source="Orphanet:2050", source="Orphanet:2050/attributed", source="Orphanet:2050/ntbt"} xref: MESH:C535963 {source="Orphanet:2050/e", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438"} xref: NCIT:C130985 {source="MONDO:equivalentTo"} @@ -317683,7 +329108,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:112240"} ! inheri id: MONDO:0016086 name: osteochondritis of tarsal/metatarsal bone def: "A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls." [Orphanet:563991] -subset: gard_rare +subset: gard_rare {source="GARD:6842"} subset: ordo_disease {source="Orphanet:2054"} synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:2054, Orphanet:563991] synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM:732.5] @@ -317695,6 +329120,7 @@ synonym: "navicular Osteochondrosis" RELATED [GARD:0006842] synonym: "osteochondritis of tarsal/metatarsal bone" EXACT [GARD:0006842] synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:2054] xref: DOID:11760 {source="MONDO:equivalentTo"} +xref: GARD:6842 {source="Orphanet:563991"} xref: ICD10CM:M93.2 {source="Orphanet:2054/ntbt", source="Orphanet:2054"} xref: ICD9:732.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11760"} xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:equivalentObsolete"} @@ -317713,8 +329139,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6842/kohler- id: MONDO:0016087 name: progressive non-infectious anterior vertebral fusion def: "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." [Orphanet:2062] +subset: gard_rare {source="GARD:18759"} subset: ordo_malformation_syndrome {source="Orphanet:2062"} synonym: "Copenhagen syndrome" EXACT [Orphanet:2062] +xref: GARD:18759 {source="Orphanet:2062"} xref: ICD10CM:Q87.8 {source="Orphanet:2062/attributed", source="Orphanet:2062/ntbt", source="Orphanet:2062"} xref: Orphanet:2062 {source="MONDO:equivalentTo"} xref: SCTID:719268008 {source="MONDO:equivalentTo"} @@ -317731,10 +329159,12 @@ id: MONDO:0016088 name: hypoxanthine-guanine phosphoribosyltransferase deficiency def: "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." [Orphanet:206428] subset: disease_grouping +subset: gard_rare {source="GARD:2943"} subset: ordo_group_of_disorders {source="Orphanet:206428"} synonym: "HPRT deficiency" EXACT [Orphanet:206428] synonym: "HPRT1 deficiency" EXACT [Orphanet:206428] synonym: "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" EXACT [Orphanet:206428] +xref: GARD:2943 {source="Orphanet:206428"} xref: ICD10CM:E79.8 {source="Orphanet:206428/attributed", source="Orphanet:206428/ntbt", source="Orphanet:206428"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206428 {source="MONDO:equivalentTo"} @@ -317747,9 +329177,11 @@ relationship: excluded_subClassOf MONDO:0020112 {source="Orphanet:206428"} ! vit [Term] id: MONDO:0016089 name: infantile Krabbe disease +subset: gard_rare {source="GARD:20343"} subset: ordo_clinical_subtype {source="Orphanet:206436"} synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436] synonym: "Krabbe disease, early-onset" EXACT [Orphanet:206436] +xref: GARD:20343 {source="Orphanet:206436"} xref: ICD10CM:E75.2 {source="Orphanet:206436", source="Orphanet:206436/attributed", source="Orphanet:206436/ntbt"} xref: Orphanet:206436 {source="MONDO:equivalentTo"} xref: SCTID:238030005 {source="MONDO:equivalentTo"} @@ -317761,8 +329193,10 @@ intersection_of: has_characteristic HP:0003593 ! Infantile onset [Term] id: MONDO:0016090 name: late-infantile/juvenile Krabbe disease +subset: gard_rare {source="GARD:20344"} subset: ordo_clinical_subtype {source="Orphanet:206443"} synonym: "Krabbe disease, late-onset" EXACT [Orphanet:206443] +xref: GARD:20344 {source="Orphanet:206443"} xref: ICD10CM:E75.2 {source="Orphanet:206443/attributed", source="Orphanet:206443/ntbt", source="Orphanet:206443"} xref: Orphanet:206443 {source="MONDO:equivalentTo"} xref: SCTID:41142009 {source="MONDO:equivalentTo"} @@ -317776,8 +329210,10 @@ intersection_of: has_characteristic HP:0003621 ! Juvenile onset id: MONDO:0016091 name: adult Krabbe disease def: "A Krabbe disease that occurs in an adult." [MONDO:design_pattern] +subset: gard_rare {source="GARD:20345"} subset: ordo_clinical_subtype {source="Orphanet:206448"} synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +xref: GARD:20345 {source="Orphanet:206448"} xref: ICD10CM:E75.2 {source="Orphanet:206448/attributed", source="Orphanet:206448/ntbt", source="Orphanet:206448"} xref: Orphanet:206448 {source="MONDO:equivalentTo"} xref: UMLS:C0268252 {source="Orphanet:206448", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206448/e"} @@ -317791,9 +329227,11 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0016092 name: serous or mucinous cystadenoma of childhood def: "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." [Orphanet:206470] +subset: gard_rare {source="GARD:20346"} subset: ordo_disease {source="Orphanet:206470"} synonym: "mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] synonym: "serous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] +xref: GARD:20346 {source="Orphanet:206470"} xref: ICD10CM:D27 {source="Orphanet:206470", source="Orphanet:206470/ntbt"} xref: Orphanet:206470 {source="MONDO:equivalentTo"} is_a: MONDO:0000646 {source="Orphanet:206470"} ! ovarian benign neoplasm @@ -317803,6 +329241,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare id: MONDO:0016093 name: borderline epithelial tumor of ovary def: "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." [NCIT:P378] +subset: gard_rare {source="GARD:9363"} subset: ordo_disease {source="Orphanet:206473"} synonym: "borderline epithelial neoplasm of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial neoplasm of the ovary" EXACT [NCIT:C4783] @@ -317835,6 +329274,7 @@ synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783] synonym: "ovarian tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "ovarian tumours of low malignant potential" EXACT OMO:0003005 [] xref: EFO:1000140 {source="MONDO:equivalentTo"} +xref: GARD:9363 {source="Orphanet:206473"} xref: ICD10CM:C56 {source="Orphanet:206473/ntbt", source="Orphanet:206473"} xref: NCIT:C4783 {source="MONDO:equivalentTo"} xref: Orphanet:206473 {source="MONDO:equivalentTo"} @@ -317849,12 +329289,14 @@ relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive id: MONDO:0016094 name: vaginal germ cell malignant tumor def: "A malignant germ cell tumor that involves the vagina." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20347"} subset: ordo_disease {source="Orphanet:206489"} synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489] synonym: "malignant germ cell tumour of the vagina" RELATED OMO:0003005 [] synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "vagina malignant germ cell tumour" EXACT OMO:0003005 [] synonym: "vaginal germ cell cancer" EXACT [Orphanet:206489] +xref: GARD:20347 {source="Orphanet:206489"} xref: ICD10CM:C52 {source="Orphanet:206489/ntbt", source="Orphanet:206489"} xref: Orphanet:206489 {source="MONDO:equivalentTo"} xref: UMLS:CN200860 {source="MONDO:equivalentTo"} @@ -317866,12 +329308,14 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina id: MONDO:0016095 name: vaginal rhabdomyosarcoma def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." [NCIT:C128080] +subset: gard_rare {source="GARD:20348"} subset: ordo_disease {source="Orphanet:206492"} synonym: "rhabdomyosarcoma (disease) of vagina" EXACT [] synonym: "vagina rhabdomyosarcoma" EXACT [] synonym: "vagina rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "vaginal rhabdomyosarcoma" EXACT [NCIT:C128080] synonym: "vulvovaginal rhabdomyosarcoma" RELATED [Orphanet:206492] +xref: GARD:20348 {source="Orphanet:206492"} xref: ICD10CM:C52 {source="Orphanet:206492", source="Orphanet:206492/ntbt"} xref: NCIT:C128080 {source="MONDO:equivalentTo"} xref: Orphanet:206492 {source="MONDO:equivalentTo"} @@ -317886,6 +329330,7 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina id: MONDO:0016096 name: malignant non-dysgerminomatous germ cell tumor of ovary def: "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." [NCIT:C102870] +subset: gard_rare {source="GARD:20349"} subset: ordo_disease {source="Orphanet:206538"} synonym: "non-dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:206538] synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870] @@ -317894,6 +329339,7 @@ synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870] synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870] synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870] synonym: "ovarian Nondysgerminomatous germ cell tumour" EXACT OMO:0003005 [] +xref: GARD:20349 {source="Orphanet:206538"} xref: ICD10CM:C56 {source="Orphanet:206538/ntbt", source="Orphanet:206538"} xref: NCIT:C102870 {source="MONDO:equivalentTo"} xref: Orphanet:206538 {source="MONDO:equivalentTo"} @@ -317910,7 +329356,9 @@ intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant id: MONDO:0016097 name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers def: "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." [Orphanet:206546] +subset: gard_rare {source="GARD:20350"} subset: ordo_disease {source="Orphanet:206546"} +xref: GARD:20350 {source="Orphanet:206546"} xref: ICD10CM:G71.0 {source="Orphanet:206546", source="Orphanet:206546/attributed", source="Orphanet:206546/ntbt"} xref: Orphanet:206546 {source="MONDO:equivalentTo"} xref: SCTID:765197008 {source="MONDO:equivalentTo"} @@ -317929,6 +329377,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016098 name: immune-mediated necrotizing myopathy def: "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." [Orphanet:206569] +subset: gard_rare {source="GARD:20351"} subset: ordo_disease {source="Orphanet:206569"} synonym: "anti-HMG-CoA myopathy" EXACT [Orphanet:206569] synonym: "anti-SRP myopathy" EXACT [Orphanet:206569] @@ -317937,6 +329386,7 @@ synonym: "immune myopathy with myocyte necrosis" EXACT [Orphanet:206569] synonym: "IMNM" EXACT ABBREVIATION [Orphanet:206569] synonym: "NAM" EXACT ABBREVIATION [Orphanet:206569] synonym: "necrotizing autoimmune myopathy" RELATED [GARD:0013307] +xref: GARD:20351 {source="Orphanet:206569"} xref: ICD10CM:G72.4 {source="Orphanet:206569/ntbt", source="Orphanet:206569"} xref: Orphanet:206569 {source="MONDO:equivalentTo"} xref: SCTID:715863001 {source="MONDO:equivalentTo"} @@ -317947,19 +329397,23 @@ is_a: MONDO:0020122 {source="Orphanet:206569"} ! acquired idiopathic inflammator id: MONDO:0016099 name: overlap myositis def: "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." [Orphanet:206572] +subset: gard_rare {source="GARD:20352"} subset: ordo_disease {source="Orphanet:206572"} synonym: "adult-onset overlap myositis" EXACT [Orphanet:206572] synonym: "non-specific myositis" EXACT [Orphanet:206572] +xref: GARD:20352 {source="Orphanet:206572"} xref: Orphanet:206572 {source="MONDO:equivalentTo"} is_a: MONDO:0020122 {source="Orphanet:206572"} ! acquired idiopathic inflammatory myopathy [Term] id: MONDO:0016100 name: rippling muscle disease with myasthenia gravis +subset: gard_rare {source="GARD:20353"} subset: ordo_disease {source="Orphanet:206575"} synonym: "acquired rippling muscle disease" BROAD [Orphanet:206575] synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575] synonym: "Rmd-MG" EXACT [PMID:14694511] +xref: GARD:20353 {source="Orphanet:206575"} xref: ICD10CM:G70.8 {source="Orphanet:206575/ntbt", source="Orphanet:206575"} xref: Orphanet:206575 {source="MONDO:equivalentTo"} xref: UMLS:CN200870 {source="MONDO:equivalentTo"} @@ -317971,12 +329425,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016101 name: neurolymphomatosis def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380] +subset: gard_rare {source="GARD:20354"} subset: ordo_disease {source="Orphanet:206586"} synonym: "fowl paralyses" RELATED OMO:0003005 [] synonym: "fowl paralysis" RELATED [GARD:0006974] synonym: "fowl paralyzes" RELATED [GARD:0006974] synonym: "Marek disease" RELATED [GARD:0006974] synonym: "Marek's disease" RELATED [GARD:0006974] +xref: GARD:20354 {source="Orphanet:206586"} xref: MESH:D000077162 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D008380 {source="MONDO:equivalentTo"} xref: Orphanet:206586 {source="MONDO:equivalentTo"} @@ -317988,9 +329444,11 @@ is_a: MONDO:0005108 {source="https://orcid.org/0000-0001-5208-3432"} ! viral inf id: MONDO:0016102 name: subacute inflammatory demyelinating polyneuropathy def: "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." [Orphanet:206594] +subset: gard_rare {source="GARD:20355"} subset: ordo_disease {source="Orphanet:206594"} synonym: "SIDP" EXACT ABBREVIATION [MONDO:cjm] synonym: "subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:206594] +xref: GARD:20355 {source="Orphanet:206594"} xref: ICD10CM:G61.8 {source="Orphanet:206594/ntbt", source="Orphanet:206594"} xref: Orphanet:206594 {source="MONDO:equivalentTo"} xref: SCTID:277189006 {source="MONDO:equivalentTo"} @@ -318002,12 +329460,14 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0016103 name: isolated asymptomatic elevation of creatine phosphokinase def: "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia] +subset: gard_rare {source="GARD:20356"} subset: ordo_biological_anomaly {source="Orphanet:206599"} synonym: "hyperCKmia" EXACT [NCIT:C148327] synonym: "idiopathic asymptomatic hyperCKemia" EXACT [Orphanet:206599] synonym: "isolated asymptomatic hyperCKemia" EXACT [Orphanet:206599] synonym: "isolated hyperCKemia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1385/] xref: DOID:0111338 {source="MONDO:equivalentTo"} +xref: GARD:20356 {source="Orphanet:206599"} xref: NCIT:C148327 {source="MONDO:equivalentTo"} xref: Orphanet:206599 {source="MONDO:equivalentTo"} is_a: MONDO:0016146 {source="Orphanet:206599", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy @@ -318020,9 +329480,11 @@ id: MONDO:0016104 name: obsolete infectious disease with peripheral neuropathy def: "OBSOLETE. An infectious process affecting the peripheral nerves." [NCIT:C27589] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease' +subset: gard_rare {source="GARD:20357"} subset: ordo_group_of_disorders {source="Orphanet:206613"} synonym: "peripheral nerve infection" EXACT [NCIT:C27589] synonym: "peripheral nervous system infectious disorder" EXACT [NCIT:C27589] +xref: GARD:20357 {source="Orphanet:206613", source="MONDO:obsoleteEquivalent"} xref: NCIT:C27589 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206613 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1278821 {source="Orphanet:206613", source="MONDO:obsoleteEquivalent"} @@ -318036,8 +329498,10 @@ id: MONDO:0016105 name: acquired skeletal muscle disease def: "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20359"} subset: ordo_group_of_disorders {source="Orphanet:206638"} synonym: "acquired skeletal muscle disease" EXACT [MONDO:patterns/acquired] +xref: GARD:20359 {source="Orphanet:206638"} xref: Orphanet:206638 {source="MONDO:equivalentTo"} xref: UMLS:CN200878 {source="MONDO:equivalentTo"} is_a: MONDO:0020120 {source="MONDO:Redundant", source="Orphanet:206638"} ! skeletal muscle disorder @@ -318048,8 +329512,10 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0016106 name: progressive muscular dystrophy subset: disease_grouping +subset: gard_rare {source="GARD:20360"} subset: ordo_group_of_disorders {source="Orphanet:206644"} synonym: "progressive muscular dystrophy" EXACT CLINGEN_PREFERRED [] +xref: GARD:20360 {source="Orphanet:206644"} xref: ICD10CM:G71.0 {source="Orphanet:206644", source="Orphanet:206644/attributed", source="Orphanet:206644/ntbt"} xref: Orphanet:206644 {source="MONDO:equivalentTo"} xref: UMLS:CN241791 {source="MONDO:equivalentTo"} @@ -318060,12 +329526,14 @@ id: MONDO:0016107 name: myotonic dystrophy def: "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." [NCIT:C84914] subset: disease_grouping +subset: gard_rare {source="GARD:10419"} subset: ordo_group_of_disorders {source="Orphanet:206647"} synonym: "inherited myotonic dystrophy" EXACT [MONDO:cjm] synonym: "myotonia atrophica" RELATED [GARD:0010419] synonym: "myotonia dystrophica" RELATED [GARD:0010419] synonym: "myotonic disease" RELATED [DOID:450] xref: DOID:450 {source="MONDO:equivalentTo"} +xref: GARD:10419 {source="Orphanet:206647"} xref: ICD10CM:G71.1 {source="Orphanet:206647", source="Orphanet:206647/attributed", source="Orphanet:206647/ntbt", source="DOID:450"} xref: ICD9:359.2 {source="DOID:450"} xref: MedDRA:10068871 {source="Orphanet:206647", source="Orphanet:206647/e"} @@ -318096,8 +329564,10 @@ id: MONDO:0016108 name: autosomal dominant distal myopathy def: "Autosomal dominant form of distal myopathy." [MONDO:patterns/autosomal_dominant] subset: disease_grouping +subset: gard_rare {source="GARD:20361"} subset: ordo_group_of_disorders {source="Orphanet:206650"} synonym: "distal myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:20361 {source="Orphanet:206650"} xref: ICD10CM:G71.0 {source="Orphanet:206650", source="Orphanet:206650/attributed", source="Orphanet:206650/ntbt"} xref: Orphanet:206650 {source="MONDO:equivalentTo"} xref: UMLS:CN229018 {source="MONDO:equivalentTo"} @@ -318109,7 +329579,9 @@ intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance id: MONDO:0016109 name: obsolete autosomal recessive distal myopathy def: "OBSOLETE. Autosomal recessive form of distal myopathy." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:20362"} synonym: "distal myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:20362 {source="MONDO:obsoleteEquivalent", source="Orphanet:206653"} xref: ICD10CM:G71.0 {source="Orphanet:206653/attributed", source="Orphanet:206653/ntbt", source="Orphanet:206653"} xref: Orphanet:206653 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229019 {source="MONDO:obsoleteEquivalent"} @@ -318126,9 +329598,11 @@ name: obsolete non-dystrophic myopathy def: "OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." [NCIT:C122787] comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:20363"} subset: ordo_group_of_disorders {source="Orphanet:206656"} synonym: "non dystrophic myotonia" EXACT [NCIT:C122787] synonym: "non-dystrophic myotonia" EXACT [NCIT:C122787] +xref: GARD:20363 {source="Orphanet:206656", source="MONDO:obsoleteEquivalent"} xref: NCIT:C122787 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206656 {source="MONDO:obsoleteEquivalent"} xref: SCTID:424795008 {source="MONDO:obsoleteEquivalent"} @@ -318148,10 +329622,11 @@ is_obsolete: true id: MONDO:0016112 name: hereditary inclusion-body myopathy subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20364"} subset: ordo_group_of_disorders {source="Orphanet:206662"} synonym: "cytoplasmic body myopathy" RELATED [GARD:0001658] synonym: "inclusion myopathy" EXACT [Orphanet:206662] +xref: GARD:20364 {source="Orphanet:206662"} xref: ICD10CM:G71.8 {source="Orphanet:206662/attributed", source="Orphanet:206662/ntbt", source="Orphanet:206662"} xref: Orphanet:206662 {source="MONDO:equivalentTo"} is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy @@ -318163,11 +329638,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1658/cytopla id: MONDO:0016113 name: bulbospinal muscular atrophy subset: disease_grouping +subset: gard_rare {source="GARD:20365"} subset: ordo_group_of_disorders {source="Orphanet:206701"} synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] synonym: "SBMA" EXACT ABBREVIATION [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] synonym: "spinal and bulbal muscular atrophy" EXACT [Wikipedia:Spinal_and_bulbar_muscular_atrophy] synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] +xref: GARD:20365 {source="Orphanet:206701"} xref: ICD10CM:G12.2 {source="Orphanet:206701/attributed", source="Orphanet:206701/ntbt", source="Orphanet:206701"} xref: Orphanet:206701 {source="MONDO:equivalentTo"} xref: SCTID:230253001 {source="MONDO:equivalentTo"} @@ -318179,10 +329656,12 @@ is_a: MONDO:0020128 {source="Orphanet:206701", source="Orphanet:206701/inferred" id: MONDO:0016114 name: obsolete bulbospinal muscular atrophy of childhood def: "OBSOLETE. A bulbospinal muscular atrophy that occurs during childhood." [MONDO:design_pattern] +subset: gard_rare {source="GARD:20366"} synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/childhood] synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "paediatric bulbospinal muscular atrophy" EXACT OMO:0003005 [] synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +xref: GARD:20366 {source="MONDO:obsoleteEquivalent", source="Orphanet:206704"} xref: ICD10CM:G12.2 {source="Orphanet:206704/attributed", source="Orphanet:206704/ntbt", source="Orphanet:206704"} xref: Orphanet:206704 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318194,9 +329673,11 @@ is_obsolete: true id: MONDO:0016115 name: obsolete bulbospinal muscular atrophy of adulthood def: "OBSOLETE. A bulbospinal muscular atrophy that occurs in an adult." [MONDO:design_pattern] +subset: gard_rare {source="GARD:20367"} synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707] synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +xref: GARD:20367 {source="MONDO:obsoleteEquivalent", source="Orphanet:206707"} xref: ICD10CM:G12.2 {source="Orphanet:206707", source="Orphanet:206707/attributed", source="Orphanet:206707/ntbt"} xref: Orphanet:206707 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318207,6 +329688,8 @@ is_obsolete: true [Term] id: MONDO:0016116 name: obsolete generalized bulbospinal muscular atrophy +subset: gard_rare {source="GARD:20368"} +xref: GARD:20368 {source="Orphanet:206710", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.2 {source="Orphanet:206710", source="Orphanet:206710/attributed", source="Orphanet:206710/ntbt"} xref: Orphanet:206710 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318218,8 +329701,10 @@ is_obsolete: true id: MONDO:0016117 name: obsolete muscular lipidosis subset: disease_grouping +subset: gard_rare {source="GARD:20369"} subset: ordo_group_of_disorders {source="Orphanet:206953"} synonym: "lipid storage myopathy" EXACT [Orphanet:206953] +xref: GARD:20369 {source="Orphanet:206953", source="MONDO:obsoleteEquivalent"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206953 {source="MONDO:obsoleteEquivalent"} xref: SCTID:240095001 {source="MONDO:obsoleteEquivalent"} @@ -318233,8 +329718,10 @@ id: MONDO:0016118 name: obsolete muscular glycogenosis comment: Reason of obsoletion: grouping class - MONDO:excludeGrouping. Term to consider: -none subset: disease_grouping +subset: gard_rare {source="GARD:20370"} subset: ordo_group_of_disorders {source="Orphanet:206959"} synonym: "glycogen storage myopathy" EXACT [Orphanet:206959] +xref: GARD:20370 {source="MONDO:obsoleteEquivalent", source="Orphanet:206959"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:206959", source="Orphanet:206959/attributed", source="Orphanet:206959/ntbt"} xref: Orphanet:206959 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318251,7 +329738,9 @@ replaced_by: MONDO:0009637 id: MONDO:0016120 name: myotonic syndrome subset: disease_grouping +subset: gard_rare {source="GARD:20372"} subset: ordo_group_of_disorders {source="Orphanet:206970"} +xref: GARD:20372 {source="Orphanet:206970"} xref: ICD10CM:G71.1 {source="Orphanet:206970/specific", source="Orphanet:206970/e", source="Orphanet:206970"} xref: MedDRA:10028658 {source="Orphanet:206970/e", source="Orphanet:206970"} xref: MESH:D020967 {source="Orphanet:206970/e", source="MONDO:equivalentTo", source="Orphanet:206970"} @@ -318265,6 +329754,8 @@ intersection_of: disease_has_major_feature HP:0002486 ! Myotonia [Term] id: MONDO:0016121 name: obsolete congenital myotonia +subset: gard_rare {source="GARD:20373"} +xref: GARD:20373 {source="MONDO:obsoleteEquivalent", source="Orphanet:206973"} xref: ICD10CM:G71.1 {source="Orphanet:206973/ntbt", source="Orphanet:206973/inclusion", source="Orphanet:206973"} xref: Orphanet:206973 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0027127 {source="Orphanet:206973"} @@ -318280,9 +329771,11 @@ id: MONDO:0016122 name: periodic paralysis comment: Editor note: classified as genetic in ORDO but we treat as neutral here subset: disease_grouping +subset: gard_rare {source="GARD:20374"} subset: ordo_group_of_disorders {source="Orphanet:206976"} synonym: "periodic paralysis" EXACT [MONDO:ambiguous] synonym: "periodic paralysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:20374 {source="Orphanet:206976"} xref: HP:0003768 {source="MONDO:otherHierarchy"} xref: ICD10CM:G72.3 {source="Orphanet:206976", source="Orphanet:206976/e"} xref: MedDRA:10016208 {source="Orphanet:206976", source="Orphanet:206976/e"} @@ -318300,7 +329793,9 @@ id: MONDO:0016123 name: obsolete muscular tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: muscle cancer'-MONDO:0005864\n\nEditor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. subset: disease_grouping +subset: gard_rare {source="GARD:20375"} subset: ordo_group_of_disorders {source="Orphanet:206982"} +xref: GARD:20375 {source="MONDO:obsoleteEquivalent", source="Orphanet:206982"} xref: Orphanet:206982 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0282606 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206982"} relationship: excluded_subClassOf MONDO:0016105 {source="Orphanet:206982"} ! acquired skeletal muscle disease @@ -318320,6 +329815,8 @@ consider: MONDO:0016105 [Term] id: MONDO:0016125 name: obsolete infectious, fungal or parasitic myopathy +subset: gard_rare {source="GARD:20376"} +xref: GARD:20376 {source="Orphanet:206988", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M60.0 {source="Orphanet:206988", source="Orphanet:206988/e"} xref: Orphanet:206988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318331,7 +329828,9 @@ is_obsolete: true [Term] id: MONDO:0016126 name: viral myositis +subset: gard_rare {source="GARD:20377"} subset: ordo_disease {source="Orphanet:206991"} +xref: GARD:20377 {source="Orphanet:206991"} xref: ICD10CM:M60.0 {source="Orphanet:206991", source="Orphanet:206991/ntbt"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051512 {source="Orphanet:206991/e", source="Orphanet:206991"} @@ -318345,7 +329844,9 @@ intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue [Term] id: MONDO:0016127 name: bacterial myositis +subset: gard_rare {source="GARD:20378"} subset: ordo_disease {source="Orphanet:206994"} +xref: GARD:20378 {source="Orphanet:206994"} xref: ICD10CM:M60.0 {source="Orphanet:206994/ntbt", source="Orphanet:206994"} xref: Orphanet:206994 {source="MONDO:equivalentTo"} xref: SCTID:30330001 {source="MONDO:equivalentTo"} @@ -318357,7 +329858,9 @@ intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue id: MONDO:0016128 name: parasitic myositis subset: disease_grouping +subset: gard_rare {source="GARD:20379"} subset: ordo_group_of_disorders {source="Orphanet:206997"} +xref: GARD:20379 {source="Orphanet:206997"} xref: ICD10CM:M60.0 {source="Orphanet:206997", source="Orphanet:206997/ntbt"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206997 {source="MONDO:equivalentTo"} @@ -318374,12 +329877,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016129 name: eosinophilic gastroenteritis def: "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." [Orphanet:2070] +subset: gard_rare {source="GARD:9142"} subset: ordo_disease {source="Orphanet:2070"} synonym: "EGE" EXACT ABBREVIATION [Orphanet:2070] synonym: "eosinophilic enteritis" EXACT [Orphanet:2070] synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330] synonym: "eosinophilic gastroenterocolitis" EXACT [Orphanet:2070] xref: DOID:4031 {source="MONDO:equivalentTo"} +xref: GARD:9142 {source="Orphanet:2070"} xref: ICD10CM:K52.8 {source="Orphanet:2070", source="Orphanet:2070/ntbt"} xref: ICD9:558.41 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4031"} xref: MedDRA:10017902 {source="Orphanet:2070", source="Orphanet:2070/e"} @@ -318399,7 +329904,9 @@ intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine [Term] id: MONDO:0016130 name: fungal myositis +subset: gard_rare {source="GARD:20380"} subset: ordo_disease {source="Orphanet:207000"} +xref: GARD:20380 {source="Orphanet:207000"} xref: ICD10CM:M60.0 {source="Orphanet:207000", source="Orphanet:207000/ntbt"} xref: Orphanet:207000 {source="MONDO:equivalentTo"} xref: SCTID:240111007 {source="MONDO:equivalentTo"} @@ -318412,7 +329919,9 @@ intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue id: MONDO:0016131 name: obsolete spinal muscular atrophy associated with central nervous system anomaly subset: disease_grouping +subset: gard_rare {source="GARD:20381"} subset: ordo_group_of_disorders {source="Orphanet:207012"} +xref: GARD:20381 {source="MONDO:obsoleteEquivalent", source="Orphanet:207012"} xref: Orphanet:207012 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -318420,7 +329929,9 @@ is_obsolete: true id: MONDO:0016132 name: obsolete rare hereditary disease with peripheral neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:12733"} subset: ordo_group_of_disorders {source="Orphanet:207015"} +xref: GARD:12733 {source="MONDO:obsoleteEquivalent", source="Orphanet:207015"} xref: Orphanet:207015 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0392553 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:207015"} property_value: IAO:0000231 OMO:0001000 @@ -318432,7 +329943,9 @@ is_obsolete: true id: MONDO:0016133 name: obsolete rare hereditary metabolic disease with peripheral neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:20382"} subset: ordo_group_of_disorders {source="Orphanet:207018"} +xref: GARD:20382 {source="Orphanet:207018", source="MONDO:obsoleteEquivalent"} xref: Orphanet:207018 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200897 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -318444,7 +329957,9 @@ is_obsolete: true id: MONDO:0016134 name: obsolete rare hereditary systemic disease with peripheral neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:20383"} subset: ordo_group_of_disorders {source="Orphanet:207021"} +xref: GARD:20383 {source="MONDO:obsoleteEquivalent", source="Orphanet:207021"} xref: Orphanet:207021 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200898 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -318456,7 +329971,9 @@ is_obsolete: true id: MONDO:0016135 name: obsolete rare hereditary neurologic disease with peripheral neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:20384"} subset: ordo_group_of_disorders {source="Orphanet:207025"} +xref: GARD:20384 {source="MONDO:obsoleteEquivalent", source="Orphanet:207025"} xref: Orphanet:207025 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200899 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -318468,7 +329985,9 @@ is_obsolete: true id: MONDO:0016136 name: obsolete cerebellar ataxia with peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebellar ataxia' +subset: gard_rare {source="GARD:20385"} subset: ordo_group_of_disorders {source="Orphanet:207028"} +xref: GARD:20385 {source="MONDO:obsoleteEquivalent", source="Orphanet:207028"} xref: ICD10CM:G60.2 {source="Orphanet:207028/specific", source="Orphanet:207028/e", source="Orphanet:207028"} xref: Orphanet:207028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -318480,8 +329999,10 @@ consider: MONDO:0000437 id: MONDO:0016137 name: obsolete acute and subacute inflammatory demyelinating polyneuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired peripheral neuropathy' +subset: gard_rare {source="GARD:20386"} subset: ordo_group_of_disorders {source="Orphanet:207038"} synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:207038] +xref: GARD:20386 {source="MONDO:obsoleteEquivalent", source="Orphanet:207038"} xref: Orphanet:207038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -318492,7 +330013,9 @@ consider: MONDO:0015923 id: MONDO:0016138 name: obsolete malignant lymphoma with peripheral neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:20387"} subset: ordo_group_of_disorders {source="Orphanet:207046"} +xref: GARD:20387 {source="MONDO:obsoleteEquivalent", source="Orphanet:207046"} xref: Orphanet:207046 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -318500,7 +330023,9 @@ is_obsolete: true id: MONDO:0016139 name: qualitative or quantitative protein defects in neuromuscular diseases subset: disease_grouping +subset: gard_rare {source="GARD:20388"} subset: ordo_group_of_disorders {source="Orphanet:207049"} +xref: GARD:20388 {source="Orphanet:207049"} xref: Orphanet:207049 {source="MONDO:equivalentTo"} xref: UMLS:CN200901 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder @@ -318511,8 +330036,10 @@ id: MONDO:0016140 name: sarcoglycanopathy def: "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." [MESH:D058088] subset: disease_grouping +subset: gard_rare {source="GARD:20389"} subset: ordo_group_of_disorders {source="Orphanet:207052"} synonym: "qualitative or quantitative defects of sarcoglycan" EXACT [Orphanet:207052] +xref: GARD:20389 {source="Orphanet:207052"} xref: MESH:D058088 {source="MONDO:equivalentTo"} xref: Orphanet:207052 {source="MONDO:equivalentTo"} xref: UMLS:C2936331 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:207052"} @@ -318525,8 +330052,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016141 name: qualitative or quantitative defects of alpha-sarcoglycan subset: disease_grouping +subset: gard_rare {source="GARD:20390"} subset: ordo_group_of_disorders {source="Orphanet:207060"} synonym: "alpha-sarcoglycanopathy" EXACT [MONDO:cjm] +xref: GARD:20390 {source="Orphanet:207060"} xref: Orphanet:207060 {source="MONDO:equivalentTo"} is_a: MONDO:0016140 {source="Orphanet:207060"} ! sarcoglycanopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 {source="Orphanet:207060"} ! SGCA @@ -318536,9 +330065,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016142 name: qualitative or quantitative defects of beta-sarcoglycan subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20391"} subset: ordo_group_of_disorders {source="Orphanet:207063"} synonym: "beta-sarcoglycanopathy" EXACT [MONDO:cjm] +xref: GARD:20391 {source="Orphanet:207063"} xref: HGNC:10806 {source="GARD:0000870", source="MONDO:otherHierarchy"} xref: MESH:C535435 {source="MONDO:equivalentTo"} xref: Orphanet:207063 {source="MONDO:equivalentTo"} @@ -318551,8 +330081,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016143 name: qualitative or quantitative defects of gamma-sarcoglycan subset: disease_grouping +subset: gard_rare {source="GARD:20392"} subset: ordo_group_of_disorders {source="Orphanet:207067"} synonym: "gamma-sarcoglycanopathy" NARROW [MONDO:cjm] +xref: GARD:20392 {source="Orphanet:207067"} xref: Orphanet:207067 {source="MONDO:equivalentTo"} is_a: MONDO:0016140 {source="Orphanet:207067"} ! sarcoglycanopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 {source="Orphanet:207067"} ! SGCG @@ -318562,9 +330094,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016144 name: qualitative or quantitative defects of delta-sarcoglycan subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20393"} subset: ordo_group_of_disorders {source="Orphanet:207070"} synonym: "delta-sarcoglycanopathy" EXACT [MONDO:cjm] +xref: GARD:20393 {source="Orphanet:207070"} xref: Orphanet:207070 {source="MONDO:equivalentTo"} xref: UMLS:CN072428 {source="MONDO:equivalentTo"} is_a: MONDO:0016140 {source="Orphanet:207070"} ! sarcoglycanopathy @@ -318575,9 +330108,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016145 name: qualitative or quantitative defects of dysferlin subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:2003"} subset: ordo_group_of_disorders {source="Orphanet:207073"} synonym: "dysferlinopathy" EXACT [Orphanet:207073] +xref: GARD:2003 {source="Orphanet:207073"} xref: MESH:C537995 {source="MONDO:equivalentTo"} xref: Orphanet:207073 {source="MONDO:equivalentTo"} xref: UMLS:C2931687 {source="Orphanet:207073", source="MONDO:equivalentTo"} @@ -318590,8 +330124,10 @@ id: MONDO:0016146 name: caveolinopathy def: "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" [https://www.ncbi.nlm.nih.gov/books/NBK1385/] subset: disease_grouping +subset: gard_rare {source="GARD:20394"} subset: ordo_group_of_disorders {source="Orphanet:207078"} synonym: "qualitative or quantitative defects of caveolin-3" EXACT [Orphanet:207078] +xref: GARD:20394 {source="Orphanet:207078"} xref: Orphanet:207078 {source="MONDO:equivalentTo"} xref: UMLS:CN043575 {source="MONDO:equivalentTo"} is_a: MONDO:0003939 {source="https://orcid.org/0000-0001-5208-3432"} ! muscle tissue disorder @@ -318603,8 +330139,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0016147 name: qualitative or quantitative defects of dystrophin subset: disease_grouping +subset: gard_rare {source="GARD:2031"} subset: ordo_group_of_disorders {source="Orphanet:207085"} synonym: "dystrophinopathy" EXACT [Orphanet:207085] +xref: GARD:2031 {source="Orphanet:207085"} xref: Orphanet:207085 {source="MONDO:equivalentTo"} xref: UMLS:CN043595 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:207085"} ! qualitative or quantitative protein defects in neuromuscular diseases @@ -318621,6 +330159,8 @@ consider: MONDO:0016139 [Term] id: MONDO:0016149 name: obsolete qualitative or quantitative defects of merosin +subset: gard_rare {source="GARD:20396"} +xref: GARD:20396 {source="MONDO:obsoleteEquivalent", source="Orphanet:207094"} xref: Orphanet:207094 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318630,7 +330170,9 @@ is_obsolete: true [Term] id: MONDO:0016150 name: obsolete qualitative or quantitative defects of integrin alpha-7 +subset: gard_rare {source="GARD:20397"} synonym: "integrinopathy" EXACT [Orphanet:207098] +xref: GARD:20397 {source="MONDO:obsoleteEquivalent", source="Orphanet:207098"} xref: Orphanet:207098 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318641,7 +330183,9 @@ is_obsolete: true id: MONDO:0016151 name: qualitative or quantitative defects of perlecan subset: disease_grouping +subset: gard_rare {source="GARD:20398"} subset: ordo_group_of_disorders {source="Orphanet:207101"} +xref: GARD:20398 {source="Orphanet:207101"} xref: Orphanet:207101 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:207101"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="Orphanet:207101"} ! HSPG2 @@ -318650,6 +330194,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016152 name: obsolete qualitative or quantitative defects of calpain +subset: gard_rare {source="GARD:20399"} +xref: GARD:20399 {source="MONDO:obsoleteEquivalent", source="Orphanet:207104"} xref: Orphanet:207104 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318660,7 +330206,9 @@ is_obsolete: true id: MONDO:0016153 name: qualitative or quantitative defects of TRIM32 subset: disease_grouping +subset: gard_rare {source="GARD:20400"} subset: ordo_group_of_disorders {source="Orphanet:207107"} +xref: GARD:20400 {source="Orphanet:207107"} xref: Orphanet:207107 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:207107"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32 @@ -318669,6 +330217,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016154 name: obsolete qualitative or quantitative defects of myotubularin +subset: gard_rare {source="GARD:20401"} +xref: GARD:20401 {source="MONDO:obsoleteEquivalent", source="Orphanet:207110"} xref: Orphanet:207110 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318679,9 +330229,11 @@ is_obsolete: true id: MONDO:0016155 name: qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan subset: disease_grouping +subset: gard_rare {source="GARD:20402"} subset: ordo_group_of_disorders {source="Orphanet:207113"} synonym: "secondary alpha-dystroglycanopathy" EXACT [Orphanet:207113] synonym: "secondary dystroglycanopathy" EXACT [Orphanet:207113] +xref: GARD:20402 {source="Orphanet:207113"} xref: Orphanet:207113 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0017741 ! disorder of protein O-glycosylation @@ -318693,7 +330245,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016156 name: qualitative or quantitative defects of FKRP subset: disease_grouping +subset: gard_rare {source="GARD:20403"} subset: ordo_group_of_disorders {source="Orphanet:207119"} +xref: GARD:20403 {source="Orphanet:207119"} xref: Orphanet:207119 {source="MONDO:equivalentTo"} is_a: MONDO:0016155 {source="Orphanet:207119"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318701,6 +330255,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016157 name: obsolete qualitative or quantitative defects of fukutin +subset: gard_rare {source="GARD:20404"} +xref: GARD:20404 {source="MONDO:obsoleteEquivalent", source="Orphanet:207122"} xref: Orphanet:207122 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318713,7 +330269,7 @@ is_obsolete: true id: MONDO:0016158 name: narcolepsy-cataplexy syndrome def: "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [Orphanet:2073] -subset: gard_rare {source="GARD:0007162"} +subset: gard_rare {source="GARD:7162"} subset: ordo_disease {source="Orphanet:2073"} synonym: "GC)lineau disease" EXACT [Orphanet:2073] synonym: "Gelineau syndrome" RELATED [GARD:0007162] @@ -318725,6 +330281,7 @@ synonym: "narcoleptic syndrome" RELATED [GARD:0007162] synonym: "paroxysmal sleep" RELATED [GARD:0007162] xref: DOID:8986 {source="EFO:0000614"} xref: EFO:0000614 {source="MONDO:equivalentTo"} +xref: GARD:7162 {source="Orphanet:2073"} xref: ICD10CM:G47.4 {source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: ICD10CM:G47.41 {source="DOID:8986"} xref: ICD10CM:G47.419 {source="DOID:8986", source="MONDO:directSiblingOf"} @@ -318748,10 +330305,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7162/narcole [Term] id: MONDO:0016159 name: Gemignani syndrome -subset: gard_rare {source="GARD:0002451"} +subset: gard_rare {source="GARD:2451"} subset: ordo_malformation_syndrome {source="Orphanet:2074"} synonym: "spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness" RELATED [GARD:0002451] synonym: "spinocerebellar ataxia-amyotrophy-deafness syndrome" EXACT [Orphanet:2074] +xref: GARD:2451 {source="Orphanet:2074"} xref: MESH:C537678 {source="Orphanet:2074/e", source="MONDO:equivalentTo", source="Orphanet:2074"} xref: Orphanet:2074 {source="MONDO:equivalentTo"} xref: UMLS:C2931587 {source="Orphanet:2074/e", source="MONDO:equivalentTo", source="Orphanet:2074"} @@ -318762,7 +330320,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2451/gemigna id: MONDO:0016160 name: X-linked intellectual disability-epilepsy syndrome subset: disease_grouping +subset: gard_rare {source="GARD:16584"} subset: ordo_group_of_disorders {source="Orphanet:2076"} +xref: GARD:16584 {source="Orphanet:2076"} xref: Orphanet:2076 {source="MONDO:equivalentTo"} xref: UMLS:CN226857 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:2076"} ! monogenic epilepsy @@ -318773,7 +330333,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016161 name: cerebral gigantism-jaw cysts syndrome def: "Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." [Orphanet:2081] -subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2081"} synonym: "cerebral gigantism jaw cysts" RELATED [GARD:0001206] synonym: "Cramer Niederdellmann syndrome" RELATED [GARD:0001206] @@ -318789,9 +330348,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1206/cerebra id: MONDO:0016162 name: bilateral frontal polymicrogyria def: "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria] -subset: gard_rare {source="GARD:0010783"} +subset: gard_rare {source="GARD:10783"} subset: ordo_clinical_subtype {source="Orphanet:208444"} xref: DOID:0080921 {source="MONDO:equivalentTo"} +xref: GARD:10783 {source="Orphanet:208444"} xref: ICD10CM:Q04.3 {source="Orphanet:208444/attributed", source="Orphanet:208444/ntbt", source="Orphanet:208444"} xref: Orphanet:208444 {source="MONDO:equivalentTo"} is_a: MONDO:0017091 {source="Orphanet:208444"} ! bilateral polymicrogyria @@ -318801,6 +330361,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10783/bilate id: MONDO:0016163 name: autosomal dominant cerebellar ataxia type II subset: disease_grouping +subset: gard_rare {source="GARD:4955", source="GARD:20405"} subset: ordo_disease {source="Orphanet:94147"} subset: ordo_group_of_disorders {source="Orphanet:208508"} synonym: "Adca, type 2" RELATED [OMIM:164500] @@ -318824,6 +330385,8 @@ synonym: "SCA7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164500, Orphanet:94147] synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical, OMIM:164500] synonym: "spinocerebellar ataxia type 7" EXACT [MONDORULE:1, OMIM:164500] xref: DOID:0050958 {source="MONDO:equivalentTo"} +xref: GARD:20405 {source="Orphanet:208508"} +xref: GARD:4955 {source="Orphanet:94147"} xref: ICD10CM:G11.8 {source="Orphanet:94147/attributed", source="Orphanet:94147/ntbt", source="Orphanet:94147"} xref: NCIT:C126562 {source="MONDO:equivalentTo"} xref: OMIM:164500 {source="Orphanet:94147", source="MONDO:equivalentTo", source="Orphanet:94147/e", source="DOID:0050958"} @@ -318842,7 +330405,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016164 name: herpetiform pemphigus def: "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." [Orphanet:208524] +subset: gard_rare {source="GARD:20406"} subset: ordo_disease {source="Orphanet:208524"} +xref: GARD:20406 {source="Orphanet:208524"} xref: ICD10CM:L10.2 {source="Orphanet:208524/ntbt", source="Orphanet:208524"} xref: Orphanet:208524 {source="MONDO:equivalentTo"} xref: UMLS:CN226858 {source="MONDO:equivalentTo"} @@ -318859,8 +330424,10 @@ id: MONDO:0016165 name: hereditary hypoparathyroidism def: "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:20407"} subset: ordo_group_of_disorders {source="Orphanet:208593"} synonym: "genetic hypoparathyroidism" EXACT [MONDO:patterns/genetic] +xref: GARD:20407 {source="Orphanet:208593"} xref: Orphanet:208593 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted"} ! endocrine system disorder intersection_of: MONDO:0001220 ! hypoparathyroidism @@ -318872,8 +330439,10 @@ id: MONDO:0016166 name: hereditary hyperparathyroidism def: "An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:20408"} subset: ordo_group_of_disorders {source="Orphanet:208596"} synonym: "genetic hyperparathyroidism" EXACT [MONDO:patterns/genetic] +xref: GARD:20408 {source="Orphanet:208596"} xref: OMIMPS:145000 {source="MONDO:equivalentTo"} xref: Orphanet:208596 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted"} ! endocrine system disorder @@ -318886,7 +330455,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016167 name: optic pathway glioma def: "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." [Orphanet:2086] -subset: gard_rare {source="GARD:0004107"} +subset: gard_rare {source="GARD:4107"} subset: ordo_disease {source="Orphanet:2086"} synonym: "glioma of optic tract" EXACT [NCIT:C8567] synonym: "glioma of the optic tract" EXACT [NCIT:C8567] @@ -318895,6 +330464,7 @@ synonym: "glioma of visual pathway" EXACT [NCIT:C8567] synonym: "optic pathway glioma" EXACT [NCIT:C8567] synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567] synonym: "visual pathway glioma" EXACT [NCIT:C8567] +xref: GARD:4107 {source="Orphanet:2086"} xref: ICD10CM:D33.3 {source="Orphanet:2086/ntbt", source="Orphanet:2086"} xref: NCIT:C8567 {source="MONDO:equivalentTo"} xref: Orphanet:2086 {source="MONDO:equivalentTo"} @@ -318910,9 +330480,11 @@ id: MONDO:0016168 name: cryopyrin-associated periodic syndrome def: "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." [Orphanet:208650] subset: disease_grouping +subset: gard_rare {source="GARD:10927"} subset: ordo_group_of_disorders {source="Orphanet:208650"} synonym: "caps" BROAD [Orphanet:208650] synonym: "Cryopyrinopathy" EXACT [Orphanet:208650] +xref: GARD:10927 {source="Orphanet:208650"} xref: ICD10CM:E85.0 {source="Orphanet:208650", source="Orphanet:208650/attributed", source="Orphanet:208650/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068850 {source="Orphanet:208650", source="Orphanet:208650/e"} @@ -318931,9 +330503,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016169 name: obsolete chronic acquired demyelinating polyneuropathy def: "OBSOLETE. Chronic form of acquired peripheral neuropathy." [MONDO:patterns/chronic] +subset: gard_rare {source="GARD:20409"} synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "CADP" EXACT ABBREVIATION [Orphanet:208974] synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern] +xref: GARD:20409 {source="MONDO:obsoleteEquivalent", source="Orphanet:208974"} xref: Orphanet:208974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318944,7 +330518,9 @@ is_obsolete: true id: MONDO:0016170 name: obsolete chronic polyradiculoneuropathy def: "OBSOLETE. Chronic form of polyradiculoneuropathy." [MONDO:patterns/chronic] +subset: gard_rare {source="GARD:20410"} synonym: "polyradiculoneuropathy, chronic" EXACT [MONDO:patterns/chronic] +xref: GARD:20410 {source="Orphanet:208978", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G61.8 {source="Orphanet:208978/ntbt", source="Orphanet:208978"} xref: Orphanet:208978 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -318956,7 +330532,9 @@ is_obsolete: true [Term] id: MONDO:0016171 name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies +subset: gard_rare {source="GARD:20411"} subset: ordo_disease {source="Orphanet:208981"} +xref: GARD:20411 {source="Orphanet:208981"} xref: ICD10CM:G61.8 {source="Orphanet:208981/ntbt", source="Orphanet:208981"} xref: Orphanet:208981 {source="MONDO:equivalentTo"} is_a: MONDO:0006915 {source="https://orcid.org/0000-0002-4142-7153"} ! polyradiculoneuropathy @@ -318967,8 +330545,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016172 name: obsolete acquired sensory ganglionopathy def: "OBSOLETE. An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:20412"} synonym: "acquired sensory ganglionopathy" EXACT [MONDO:patterns/acquired] synonym: "acquired sensory neuronopathy" EXACT [Orphanet:208984] +xref: GARD:20412 {source="MONDO:obsoleteEquivalent", source="Orphanet:208984"} xref: Orphanet:208984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318978,7 +330558,9 @@ is_obsolete: true [Term] id: MONDO:0016173 name: obsolete non-paraneoplastic sensory ganglionopathy +subset: gard_rare {source="GARD:20413"} synonym: "non-paraneoplastic sensory neuronopathy" EXACT [Orphanet:208989] +xref: GARD:20413 {source="Orphanet:208989", source="MONDO:obsoleteEquivalent"} xref: Orphanet:208989 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -318988,7 +330570,9 @@ is_obsolete: true [Term] id: MONDO:0016174 name: obsolete paraneoplastic sensory ganglionopathy +subset: gard_rare {source="GARD:20414"} synonym: "paraneoplastic sensory neuronopathy" EXACT [Orphanet:208999] +xref: GARD:20414 {source="Orphanet:208999", source="MONDO:obsoleteEquivalent"} xref: Orphanet:208999 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319001,7 +330585,7 @@ id: MONDO:0016175 name: cutis laxa def: "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." [Orphanet:209] subset: disease_grouping -subset: gard_rare {source="GARD:0006227"} +subset: gard_rare {source="GARD:6227"} subset: ordo_group_of_disorders {source="Orphanet:209"} synonym: "cutis laxa" EXACT [DOID:3144] synonym: "elastolysis" EXACT [NCIT:C84663] @@ -319009,6 +330593,7 @@ synonym: "generalised elastolysis" RELATED OMO:0003005 [] synonym: "generalized elastolysis" RELATED [GARD:0006227] synonym: "loose skin" EXACT [DOID:3144] xref: DOID:3144 {source="MONDO:equivalentTo"} +xref: GARD:6227 {source="Orphanet:209"} xref: ICD10CM:Q82.8 {source="DOID:3144", source="Orphanet:209/inclusion", source="Orphanet:209", source="Orphanet:209/ntbt"} xref: MedDRA:10011692 {source="Orphanet:209", source="Orphanet:209/e"} xref: MESH:D003483 {source="DOID:3144", source="MONDO:equivalentTo", source="Orphanet:209", source="Orphanet:209/e"} @@ -319027,7 +330612,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6227/cutis-l [Term] id: MONDO:0016176 name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy +subset: gard_rare {source="GARD:20415"} subset: ordo_disease {source="Orphanet:209004"} +xref: GARD:20415 {source="Orphanet:209004"} xref: ICD10CM:G61.8 {source="Orphanet:209004", source="Orphanet:209004/ntbt"} xref: Orphanet:209004 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:209004"} ! acquired peripheral neuropathy @@ -319036,7 +330623,9 @@ is_a: MONDO:0015923 {source="Orphanet:209004"} ! acquired peripheral neuropathy id: MONDO:0016177 name: obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' +subset: gard_rare {source="GARD:20416"} subset: ordo_group_of_disorders {source="Orphanet:209007"} +xref: GARD:20416 {source="MONDO:obsoleteEquivalent", source="Orphanet:209007"} xref: Orphanet:209007 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200929 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -319048,7 +330637,9 @@ consider: MONDO:0021166 id: MONDO:0016178 name: obsolete peripheral neuropathy associated with monoclonal gammopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peripheral neuropathy associated with monoclonal gammopathy' +subset: gard_rare {source="GARD:20417"} subset: ordo_group_of_disorders {source="Orphanet:209010"} +xref: GARD:20417 {source="MONDO:obsoleteEquivalent", source="Orphanet:209010"} xref: Orphanet:209010 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -319058,6 +330649,8 @@ consider: MONDO:0016178 [Term] id: MONDO:0016179 name: obsolete acquired amyloid peripheral neuropathy +subset: gard_rare {source="GARD:20418"} +xref: GARD:20418 {source="MONDO:obsoleteEquivalent", source="Orphanet:209013"} xref: Orphanet:209013 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319068,7 +330661,9 @@ is_obsolete: true id: MONDO:0016180 name: obsolete hematological disease associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease +subset: gard_rare {source="GARD:20419"} subset: ordo_group_of_disorders {source="Orphanet:209016"} +xref: GARD:20419 {source="MONDO:obsoleteEquivalent", source="Orphanet:209016"} xref: Orphanet:209016 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200930 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -319080,7 +330675,9 @@ consider: MONDO:0005570 id: MONDO:0016181 name: obsolete solid tumor associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neoplasm +subset: gard_rare {source="GARD:20420"} subset: ordo_group_of_disorders {source="Orphanet:209019"} +xref: GARD:20420 {source="MONDO:obsoleteEquivalent", source="Orphanet:209019"} xref: Orphanet:209019 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200931 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -319091,7 +330688,9 @@ consider: MONDO:0005070 [Term] id: MONDO:0016182 name: obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase +subset: gard_rare {source="GARD:20421"} synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [Orphanet:209024] +xref: GARD:20421 {source="MONDO:obsoleteEquivalent", source="Orphanet:209024"} xref: Orphanet:209024 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319103,6 +330702,8 @@ is_obsolete: true [Term] id: MONDO:0016183 name: obsolete qualitative or quantitative defects of protein glycosyltransferase-like +subset: gard_rare {source="GARD:20422"} +xref: GARD:20422 {source="MONDO:obsoleteEquivalent", source="Orphanet:209027"} xref: Orphanet:209027 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319115,8 +330716,10 @@ is_obsolete: true id: MONDO:0016184 name: qualitative or quantitative defects of protein O-mannosyltransferase 1 subset: disease_grouping +subset: gard_rare {source="GARD:20423"} subset: ordo_group_of_disorders {source="Orphanet:209030"} synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 1" EXACT [MONDORULE:1, Orphanet:209030] +xref: GARD:20423 {source="Orphanet:209030"} xref: Orphanet:209030 {source="MONDO:equivalentTo"} is_a: MONDO:0016155 {source="Orphanet:209030"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319125,8 +330728,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016185 name: qualitative or quantitative defects of protein O-mannosyltransferase 2 subset: disease_grouping +subset: gard_rare {source="GARD:20424"} subset: ordo_group_of_disorders {source="Orphanet:209033"} synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 2" EXACT [MONDORULE:1, Orphanet:209033] +xref: GARD:20424 {source="Orphanet:209033"} xref: Orphanet:209033 {source="MONDO:equivalentTo"} is_a: MONDO:0016155 {source="Orphanet:209033"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319135,7 +330740,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016186 name: qualitative or quantitative defects of myofibrillar proteins subset: disease_grouping +subset: gard_rare {source="GARD:20425"} subset: ordo_group_of_disorders {source="Orphanet:209038"} +xref: GARD:20425 {source="Orphanet:209038"} xref: Orphanet:209038 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209038"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319144,7 +330751,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016187 name: qualitative or quantitative defects of desmin subset: disease_grouping +subset: gard_rare {source="GARD:20426"} subset: ordo_group_of_disorders {source="Orphanet:209041"} +xref: GARD:20426 {source="Orphanet:209041"} xref: Orphanet:209041 {source="MONDO:equivalentTo"} is_a: MONDO:0016186 {source="Orphanet:209041"} ! qualitative or quantitative defects of myofibrillar proteins intersection_of: MONDO:0000001 ! disease @@ -319155,7 +330764,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016188 name: qualitative or quantitative defects of alphaB-cristallin subset: disease_grouping +subset: gard_rare {source="GARD:20427"} subset: ordo_group_of_disorders {source="Orphanet:209044"} +xref: GARD:20427 {source="Orphanet:209044"} xref: Orphanet:209044 {source="MONDO:equivalentTo"} is_a: MONDO:0016186 {source="Orphanet:209044"} ! qualitative or quantitative defects of myofibrillar proteins property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319164,8 +330775,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016189 name: qualitative or quantitative defects of filamin C subset: disease_grouping +subset: gard_rare {source="GARD:20428"} subset: ordo_group_of_disorders {source="Orphanet:209047"} synonym: "qualitative or quantitative defects of filamin type C" EXACT [MONDORULE:1, Orphanet:209047] +xref: GARD:20428 {source="Orphanet:209047"} xref: Orphanet:209047 {source="MONDO:equivalentTo"} is_a: MONDO:0016186 {source="Orphanet:209047"} ! qualitative or quantitative defects of myofibrillar proteins property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319174,7 +330787,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016190 name: qualitative or quantitative defects of protein ZASP subset: disease_grouping +subset: gard_rare {source="GARD:20429"} subset: ordo_group_of_disorders {source="Orphanet:209050"} +xref: GARD:20429 {source="Orphanet:209050"} xref: Orphanet:209050 {source="MONDO:equivalentTo"} is_a: MONDO:0016186 {source="Orphanet:209050"} ! qualitative or quantitative defects of myofibrillar proteins property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319183,7 +330798,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016191 name: qualitative or quantitative defects of titin subset: disease_grouping +subset: gard_rare {source="GARD:20430"} subset: ordo_group_of_disorders {source="Orphanet:209053"} +xref: GARD:20430 {source="Orphanet:209053"} xref: Orphanet:209053 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209053"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319192,7 +330809,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016192 name: qualitative or quantitative defects of telethonin subset: disease_grouping +subset: gard_rare {source="GARD:20431"} subset: ordo_group_of_disorders {source="Orphanet:209056"} +xref: GARD:20431 {source="Orphanet:209056"} xref: Orphanet:209056 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209056"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="Orphanet:209056"} ! TCAP @@ -319202,7 +330821,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016193 name: qualitative or quantitative defects of alpha-actin subset: disease_grouping +subset: gard_rare {source="GARD:20432"} subset: ordo_group_of_disorders {source="Orphanet:209059"} +xref: GARD:20432 {source="Orphanet:209059"} xref: Orphanet:209059 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209059"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319211,7 +330832,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016194 name: qualitative or quantitative defects of nebulin subset: disease_grouping +subset: gard_rare {source="GARD:20433"} subset: ordo_group_of_disorders {source="Orphanet:209182"} +xref: GARD:20433 {source="Orphanet:209182"} xref: Orphanet:209182 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209182"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319220,7 +330843,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016195 name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7) subset: disease_grouping +subset: gard_rare {source="GARD:20434"} subset: ordo_group_of_disorders {source="Orphanet:209185"} +xref: GARD:20434 {source="Orphanet:209185"} xref: Orphanet:209185 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209185"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:209185"} ! MYH7 @@ -319229,6 +330854,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016196 name: obsolete qualitative or quantitative defects of emerin +subset: gard_rare {source="GARD:20435"} +xref: GARD:20435 {source="MONDO:obsoleteEquivalent", source="Orphanet:209188"} xref: Orphanet:209188 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319239,7 +330866,9 @@ is_obsolete: true id: MONDO:0016197 name: qualitative or quantitative defects of selenoprotein N1 subset: disease_grouping +subset: gard_rare {source="GARD:20436"} subset: ordo_group_of_disorders {source="Orphanet:209193"} +xref: GARD:20436 {source="Orphanet:209193"} xref: Orphanet:209193 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209193"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319248,7 +330877,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016198 name: qualitative or quantitative defects of plectin subset: disease_grouping +subset: gard_rare {source="GARD:20437"} subset: ordo_group_of_disorders {source="Orphanet:209196"} +xref: GARD:20437 {source="Orphanet:209196"} xref: Orphanet:209196 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209196"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="Orphanet:209196"} ! PLEC @@ -319258,7 +330889,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016199 name: qualitative or quantitative defects of protein SERCA1 subset: disease_grouping +subset: gard_rare {source="GARD:20438"} subset: ordo_group_of_disorders {source="Orphanet:209199"} +xref: GARD:20438 {source="Orphanet:209199"} xref: Orphanet:209199 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:209199"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319266,7 +330899,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016200 name: obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase +subset: gard_rare {source="GARD:20439"} synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1, Orphanet:209203] +xref: GARD:20439 {source="MONDO:obsoleteEquivalent", source="Orphanet:209203"} xref: Orphanet:209203 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319276,6 +330911,8 @@ is_obsolete: true [Term] id: MONDO:0016201 name: obsolete qualitative or quantitative defects of myotilin +subset: gard_rare {source="GARD:20440"} +xref: GARD:20440 {source="MONDO:obsoleteEquivalent", source="Orphanet:209224"} xref: Orphanet:209224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319286,9 +330923,11 @@ is_obsolete: true id: MONDO:0016202 name: autosomal dominant rhegmatogenous retinal detachment def: "Autosomal dominant form of rhegmatogenous retinal detachment." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:17104"} subset: ordo_disease {source="Orphanet:209867"} synonym: "DRRD" EXACT [OMIM:609508] synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:609508] +xref: GARD:17104 {source="Orphanet:209867"} xref: ICD10CM:H33.0 {source="Orphanet:209867", source="Orphanet:209867/attributed", source="Orphanet:209867/ntbt"} xref: OMIM:609508 {source="Orphanet:209867", source="Orphanet:209867/ntbt", source="MONDO:includedEntryInOMIM"} xref: Orphanet:209867 {source="MONDO:equivalentTo"} @@ -319302,7 +330941,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016203 name: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency +subset: gard_rare {source="GARD:20441"} subset: ordo_disease {source="Orphanet:209902"} +xref: GARD:20441 {source="Orphanet:209902"} xref: ICD10CM:E78.0 {source="Orphanet:209902/attributed", source="Orphanet:209902/ntbt", source="Orphanet:209902"} xref: Orphanet:209902 {source="MONDO:equivalentTo"} is_a: MONDO:0005439 ! familial hypercholesterolemia @@ -319313,8 +330954,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare id: MONDO:0016204 name: idiopathic copper-associated cirrhosis def: "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." [Orphanet:209919] +subset: gard_rare {source="GARD:17106"} subset: ordo_disease {source="Orphanet:209919"} synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919] +xref: GARD:17106 {source="Orphanet:209919"} xref: ICD10CM:K74.6 {source="Orphanet:209919", source="Orphanet:209919/ntbt"} xref: Orphanet:209919 {source="MONDO:equivalentTo"} xref: SCTID:715864007 {source="MONDO:equivalentTo"} @@ -319327,9 +330970,11 @@ property_value: confidence "3.0" xsd:double [Term] id: MONDO:0016205 name: IRVAN syndrome +subset: gard_rare {source="GARD:12868"} subset: ordo_disease {source="Orphanet:209943"} synonym: "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" EXACT [Orphanet:209943] synonym: "idiopathic retinal-aneurysms-neuroretinitis syndrome" RELATED [GARD:0012868] +xref: GARD:12868 {source="Orphanet:209943"} xref: ICD10CM:H35.0 {source="Orphanet:209943/attributed", source="Orphanet:209943/ntbt", source="Orphanet:209943"} xref: Orphanet:209943 {source="MONDO:equivalentTo"} xref: UMLS:C3665812 {source="MONDO:equivalentTo", source="Orphanet:209943"} @@ -319339,7 +330984,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare [Term] id: MONDO:0016206 name: idiopathic uveal effusion syndrome +subset: gard_rare {source="GARD:20442"} subset: ordo_disease {source="Orphanet:209956"} +xref: GARD:20442 {source="Orphanet:209956"} xref: Orphanet:209956 {source="MONDO:equivalentTo"} xref: UMLS:CN200962 {source="MONDO:equivalentTo"} is_a: MONDO:0017255 {source="Orphanet:209956"} ! panuveitis @@ -319350,6 +330997,7 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0016207 name: phacoanaphylactic uveitis def: "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." [https://medical-dictionary.thefreedictionary.com/phacoanaphylactic+uveitis] +subset: gard_rare {source="GARD:20443"} subset: ordo_disease {source="Orphanet:209959"} synonym: "endophthalmitis phacoanaphylactica" EXACT [Orphanet:209959] synonym: "lens-induced endophthalmitis" EXACT [Orphanet:209959] @@ -319358,6 +331006,7 @@ synonym: "lens-induced uveitis" EXACT [Orphanet:209959] synonym: "Phacoallergic endophthalmitis" EXACT [Orphanet:209959] synonym: "Phacoantigenic endophthalmitis" EXACT [Orphanet:209959] synonym: "Phako-anaphylactic endophthalmitis" EXACT [Orphanet:209959] +xref: GARD:20443 {source="Orphanet:209959"} xref: ICD10CM:H20.2 {source="Orphanet:209959", source="Orphanet:209959/e"} xref: Orphanet:209959 {source="MONDO:equivalentTo"} xref: SCTID:410494003 {source="MONDO:equivalentTo"} @@ -319370,7 +331019,9 @@ is_a: MONDO:0017634 {source="Orphanet:209959"} ! non-infectious anterior uveitis id: MONDO:0016208 name: solitary rectal ulcer syndrome def: "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." [Orphanet:209964] +subset: gard_rare {source="GARD:20444"} subset: ordo_disease {source="Orphanet:209964"} +xref: GARD:20444 {source="Orphanet:209964"} xref: ICD10CM:K62.6 {source="MONDO:relatedTo", source="Orphanet:209964/ntbt", source="Orphanet:209964"} xref: Orphanet:209964 {source="MONDO:equivalentTo"} xref: SCTID:716685003 {source="MONDO:equivalentTo"} @@ -319383,9 +331034,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare id: MONDO:0016209 name: benign familial nocturnal alternating hemiplegia of childhood def: "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities." [Orphanet:209973] +subset: gard_rare {source="GARD:20445"} subset: ordo_disease {source="Orphanet:209973"} synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [Orphanet:209973] synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [Orphanet:209973] +xref: GARD:20445 {source="Orphanet:209973"} xref: Orphanet:209973 {source="MONDO:equivalentTo"} xref: UMLS:CN226880 {source="MONDO:equivalentTo"} is_a: MONDO:0016210 {source="Orphanet:209973"} ! alternating hemiplegia @@ -319394,7 +331047,9 @@ is_a: MONDO:0016210 {source="Orphanet:209973"} ! alternating hemiplegia id: MONDO:0016210 name: alternating hemiplegia subset: disease_grouping +subset: gard_rare {source="GARD:20446"} subset: ordo_group_of_disorders {source="Orphanet:209978"} +xref: GARD:20446 {source="Orphanet:209978"} xref: Orphanet:209978 {source="MONDO:equivalentTo"} xref: SCTID:404689008 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder @@ -319402,8 +331057,10 @@ is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodeve [Term] id: MONDO:0016211 name: non-papillary transitional cell carcinoma of the bladder +subset: gard_rare {source="GARD:20447"} subset: ordo_disease {source="Orphanet:209989"} synonym: "non-papillary urothelial carcinoma" EXACT [Orphanet:209989] +xref: GARD:20447 {source="Orphanet:209989"} xref: ICD10CM:C67.0 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: ICD10CM:C67.1 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: ICD10CM:C67.2 {source="Orphanet:209989", source="Orphanet:209989/btnt"} @@ -319432,7 +331089,9 @@ replaced_by: MONDO:0005725 id: MONDO:0016213 name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome def: "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." [Orphanet:210133] +subset: gard_rare {source="GARD:20448"} subset: ordo_disease {source="Orphanet:210133"} +xref: GARD:20448 {source="Orphanet:210133"} xref: ICD10CM:Q82.8 {source="Orphanet:210133/attributed", source="Orphanet:210133/ntbt", source="Orphanet:210133"} xref: Orphanet:210133 {source="MONDO:equivalentTo"} xref: UMLS:CN226881 {source="MONDO:equivalentTo"} @@ -319442,7 +331101,9 @@ is_a: MONDO:0019289 {source="Orphanet:210133"} ! hyperpigmentation of the skin id: MONDO:0016214 name: pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome def: "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." [Orphanet:210136] +subset: gard_rare {source="GARD:20449"} subset: ordo_disease {source="Orphanet:210136"} +xref: GARD:20449 {source="Orphanet:210136"} xref: Orphanet:210136 {source="MONDO:equivalentTo"} xref: UMLS:CN200975 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder @@ -319454,6 +331115,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016215 name: spastic quadriplegic cerebral palsy def: "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." [NCIT:C116904] +subset: gard_rare {source="GARD:17109"} subset: ordo_disease {source="Orphanet:210141"} synonym: "inherited congenital spastic quadriplegia" EXACT [Orphanet:210141] synonym: "inherited congenital spastic tetraplegia" RELATED [Orphanet:210141] @@ -319463,6 +331125,7 @@ synonym: "spastic quadriplegic cerebral palsy" EXACT [DOID:10970, GARD:0010447, synonym: "spastic tetraplegia cerebral palsy" EXACT [GARD:0010447] synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970] xref: DOID:10970 {source="MONDO:equivalentTo"} +xref: GARD:17109 {source="Orphanet:210141"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:210141/attributed", source="Orphanet:210141/ntbt", source="Orphanet:210141"} xref: ICD9:343.2 {source="DOID:10970"} xref: ICD9:344.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -319484,6 +331147,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:612900"} ! inheri id: MONDO:0016216 name: adult hepatocellular carcinoma def: "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." [Orphanet:210159] +subset: gard_rare {source="GARD:6608"} subset: ordo_clinical_subtype {source="Orphanet:210159"} synonym: "adult HCC" EXACT [Orphanet:210159] synonym: "adult hepatocellular carcinoma" EXACT [NCIT:C7956] @@ -319496,6 +331160,7 @@ synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956] synonym: "hepatocellular cancer" BROAD [NCIT:C7956] synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0070328 {source="MONDO:equivalentTo"} +xref: GARD:6608 {source="Orphanet:210159"} xref: ICD10CM:C22.0 {source="Orphanet:210159", source="Orphanet:210159/ntbt"} xref: NCIT:C7956 {source="MONDO:equivalentTo"} xref: Orphanet:210159 {source="MONDO:equivalentTo"} @@ -319509,6 +331174,7 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0016217 name: mal de Debarquement def: "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." [Orphanet:210272] +subset: gard_rare {source="GARD:6959"} subset: ordo_clinical_syndrome {source="Orphanet:210272"} synonym: "disembarkment syndrome" EXACT [Orphanet:210272] synonym: "Mal de debarquement syndrome" RELATED [GARD:0006959] @@ -319516,6 +331182,7 @@ synonym: "Mal de débarquement" RELATED [Orphanet:210272] synonym: "MDD" EXACT ABBREVIATION [Orphanet:210272] synonym: "MdDS" EXACT [Orphanet:210272] synonym: "sickness of disembarkment" EXACT [Orphanet:210272] +xref: GARD:6959 {source="Orphanet:210272"} xref: ICD10CM:H81.8 {source="Orphanet:210272/ntbt", source="Orphanet:210272"} xref: MedDRA:10064924 {source="Orphanet:210272/e", source="Orphanet:210272"} xref: MESH:C537840 {source="Orphanet:210272/e", source="MONDO:equivalentTo", source="Orphanet:210272"} @@ -319530,6 +331197,7 @@ id: MONDO:0016218 name: Guillain-Barre syndrome def: "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." [Orphanet:2103] subset: disease_grouping +subset: gard_rare {source="GARD:6554"} subset: ordo_group_of_disorders {source="Orphanet:2103"} synonym: "acute autoimmune peripheral neuropathy" RELATED [GARD:0006554] synonym: "acute immune-mediated polyneuropathy" RELATED [GARD:0006554] @@ -319551,6 +331219,7 @@ synonym: "post-infective polyneuritis" NARROW [GARD:0006554] synonym: "postinfectious polyneuritis" NARROW [DOID:12842] xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"} xref: EFO:0007292 {source="MONDO:equivalentTo"} +xref: GARD:6554 {source="Orphanet:2103"} xref: ICD10CM:G61.0 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="Orphanet:2103/e"} xref: MedDRA:10018767 {source="Orphanet:2103", source="Orphanet:2103/e"} xref: MESH:D020275 {source="DOID:12842", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo", source="Orphanet:2103/e"} @@ -319568,11 +331237,12 @@ relationship: excluded_subClassOf MONDO:0016137 {source="Orphanet:2103"} ! obsol id: MONDO:0016219 name: dysmorphism-pectus carinatum-joint laxity syndrome def: "Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." [Orphanet:2104] -subset: gard_rare +subset: gard_rare {source="GARD:18760"} subset: ordo_malformation_syndrome {source="Orphanet:2104"} synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:0000352] synonym: "Guizar Vasquez Sanchez Manzano syndrome" RELATED [GARD:0000352] synonym: "Guízar Vázquez-Sánchez-Manzano syndrome" EXACT [Orphanet:2104] +xref: GARD:18760 {source="Orphanet:2104"} xref: ICD10CM:Q87.8 {source="Orphanet:2104/attributed", source="Orphanet:2104/ntbt", source="Orphanet:2104"} xref: Orphanet:2104 {source="GARD:0000352", source="MONDO:equivalentTo"} xref: UMLS:CN237430 {source="MONDO:equivalentTo"} @@ -319585,8 +331255,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/352/guizar-v id: MONDO:0016220 name: congenital temporomandibular joint ankylosis def: "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." [Orphanet:210576] +subset: gard_rare {source="GARD:20450"} subset: ordo_disease {source="Orphanet:210576"} synonym: "congenital trismus" EXACT [Orphanet:210576] +xref: GARD:20450 {source="Orphanet:210576"} xref: Orphanet:210576 {source="MONDO:equivalentTo"} xref: SCTID:763215008 {source="MONDO:equivalentTo"} is_a: MONDO:0002257 {source="PMID:27190665", source="https://orcid.org/0009-0001-6494-4831"} ! ankylosis @@ -319598,6 +331270,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016221 name: obsolete temporomandibular joint anomaly +subset: gard_rare {source="GARD:20451"} +xref: GARD:20451 {source="MONDO:obsoleteEquivalent", source="Orphanet:210581"} xref: Orphanet:210581 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319608,6 +331282,7 @@ is_obsolete: true id: MONDO:0016222 name: spindle cell hemangioma def: "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." [Orphanet:210584] +subset: gard_rare {source="GARD:20452"} subset: ordo_disease {source="Orphanet:210584"} synonym: "SCh" EXACT [DOID:496, NCIT:C4754] synonym: "spindle -cell hemangioma" EXACT [NCIT:C4754] @@ -319615,6 +331290,7 @@ synonym: "spindle cell hemangioendothelioma" EXACT [NCIT:C4754, Orphanet:210584] synonym: "spindle cell hemangioma" EXACT [NCIT:C4754] xref: DOID:496 {source="MONDO:equivalentTo"} xref: EFO:0002856 {source="MONDO:equivalentTo"} +xref: GARD:20452 {source="Orphanet:210584"} xref: ICD10CM:D18.0 {source="Orphanet:210584/ntbt", source="Orphanet:210584"} xref: ICDO:9136/0 {source="NCIT:C4754"} xref: ICDO:9136/1 {source="NCIT:C4754"} @@ -319635,7 +331311,9 @@ id: MONDO:0016223 name: infantile hemangioma of rare localization comment: Editor note: consider alternate naming subset: disease_grouping +subset: gard_rare {source="GARD:20453"} subset: ordo_group_of_disorders {source="Orphanet:210589"} +xref: GARD:20453 {source="Orphanet:210589"} xref: Orphanet:210589 {source="MONDO:equivalentTo"} xref: SCTID:703270004 {source="MONDO:equivalentTo"} xref: UMLS:C3839613 {source="MONDO:equivalentTo"} @@ -319649,7 +331327,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare id: MONDO:0016224 name: obsolete autosomal dominant proximal spinal muscular atrophy def: "OBSOLETE. Autosomal dominant form of proximal spinal muscular atrophy." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:20454"} synonym: "proximal spinal muscular atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:20454 {source="MONDO:obsoleteEquivalent", source="Orphanet:211037"} xref: ICD10CM:G12.1 {source="Orphanet:211037/attributed", source="Orphanet:211037/ntbt", source="Orphanet:211037"} xref: Orphanet:211037 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229044 {source="MONDO:obsoleteEquivalent"} @@ -319664,9 +331344,11 @@ id: MONDO:0016225 name: specific learning disability def: "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" [MESH:D000067559] subset: disease_grouping +subset: gard_rare {source="GARD:20455"} subset: ordo_group_of_disorders {source="Orphanet:211047"} synonym: "specific learning difficulty" EXACT [Orphanet:211047] synonym: "specific learning disorder" EXACT [Orphanet:211047] +xref: GARD:20455 {source="Orphanet:211047"} xref: MESH:D000067559 {source="MONDO:equivalentTo"} xref: Orphanet:211047 {source="MONDO:equivalentTo"} xref: UMLS:CN226885 {source="MONDO:equivalentTo"} @@ -319677,9 +331359,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare id: MONDO:0016226 name: specific language disorder subset: disease_grouping +subset: gard_rare {source="GARD:20456"} subset: ordo_group_of_disorders {source="Orphanet:211053"} synonym: "dysphasia" EXACT [Orphanet:211053] synonym: "specific language disorder" EXACT CLINGEN_PREFERRED [] +xref: GARD:20456 {source="Orphanet:211053"} xref: MESH:D000080888 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:211053 {source="MONDO:equivalentTo"} xref: UMLS:CN200992 {source="MONDO:equivalentTo"} @@ -319691,6 +331375,7 @@ id: MONDO:0016227 name: hereditary episodic ataxia def: "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." [Orphanet:211062] subset: disease_grouping +subset: gard_rare {source="GARD:20457"} subset: ordo_group_of_disorders {source="Orphanet:211062"} synonym: "ea syndrome" RELATED [GARD:0009851] synonym: "episodic ataxia" EXACT [MONDO:0006503] @@ -319698,6 +331383,7 @@ synonym: "episodic ataxia syndrome" RELATED [GARD:0009851] synonym: "Isaacs syndrome" RELATED [DOID:963] xref: DOID:963 {source="MONDO:equivalentTo", source="EFO:1000638"} xref: EFO:1000638 {source="MONDO:equivalentTo"} +xref: GARD:20457 {source="Orphanet:211062"} xref: ICD10CM:G11.8 {source="Orphanet:211062/attributed", source="Orphanet:211062/ntbt", source="Orphanet:211062"} xref: MESH:C580065 {source="DOID:963"} xref: OMIMPS:160120 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -319713,8 +331399,10 @@ id: MONDO:0016228 name: obsolete rare vascular tumor def: "OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:20458"} subset: ordo_group_of_disorders {source="Orphanet:211237"} synonym: "rare vascular neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:20458 {source="MONDO:obsoleteEquivalent", source="Orphanet:211237"} xref: Orphanet:211237 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0282607 {source="Orphanet:211237"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -319725,7 +331413,9 @@ replaced_by: MONDO:0024296 id: MONDO:0016229 name: obsolete hereditary vascular anomaly def: "OBSOLETE. An instance of vascular anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20459"} synonym: "genetic vascular anomaly" EXACT [MONDO:patterns/genetic] +xref: GARD:20459 {source="MONDO:obsoleteEquivalent", source="Orphanet:211240"} xref: Orphanet:211240 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -319737,6 +331427,8 @@ is_obsolete: true [Term] id: MONDO:0016230 name: obsolete simple vascular malformation +subset: gard_rare {source="GARD:20460"} +xref: GARD:20460 {source="Orphanet:211243", source="MONDO:obsoleteEquivalent"} xref: Orphanet:211243 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0158570 {source="Orphanet:211243", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1961121 {source="Orphanet:211243", source="MONDO:notFoundInDiseaseSubset"} @@ -319749,9 +331441,11 @@ is_obsolete: true id: MONDO:0016231 name: capillary malformation subset: disease_grouping +subset: gard_rare {source="GARD:20461"} subset: ordo_group_of_disorders {source="Orphanet:211247"} synonym: "congenital malformation of capillary" NARROW [] synonym: "rare capillary malformation" RELATED [Orphanet:211247] +xref: GARD:20461 {source="Orphanet:211247"} xref: Orphanet:211247 {source="MONDO:equivalentTo"} xref: SCTID:234118009 {source="MONDO:equivalentTo"} xref: UMLS:C0340803 {source="Orphanet:211247", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211247/e"} @@ -319763,7 +331457,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016232 name: obsolete rare venous malformation subset: disease_grouping +subset: gard_rare {source="GARD:20462"} subset: ordo_group_of_disorders {source="Orphanet:211252"} +xref: GARD:20462 {source="MONDO:obsoleteEquivalent", source="Orphanet:211252"} xref: ICD10CM:Q27.8 {source="Orphanet:211252/ntbt", source="Orphanet:211252"} xref: Orphanet:211252 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0265950 {source="Orphanet:211252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211252"} @@ -319778,7 +331474,9 @@ consider: MedDRA:10025532 {source="Orphanet:211252/e", source="Orphanet:211252"} id: MONDO:0016233 name: obsolete rare lymphatic system malformation subset: disease_grouping +subset: gard_rare {source="GARD:20463"} subset: ordo_group_of_disorders {source="Orphanet:211255"} +xref: GARD:20463 {source="Orphanet:211255", source="MONDO:obsoleteEquivalent"} xref: Orphanet:211255 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN200997 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -319791,9 +331489,11 @@ id: MONDO:0016234 name: obsolete rare arteriovenous malformation def: "OBSOLETE. Rare arteriovenous malformation." [] subset: disease_grouping +subset: gard_rare {source="GARD:20464"} subset: ordo_group_of_disorders {source="Orphanet:211266"} synonym: "rare arteriovenous hemangioma/malformation" EXACT [MONDO:patterns/rare] synonym: "rare arteriovenous malformation" EXACT [MONDO:patterns/rare] +xref: GARD:20464 {source="Orphanet:211266", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q27.3 {source="Orphanet:211266", source="Orphanet:211266/e"} xref: MedDRA:10003193 {source="Orphanet:211266", source="Orphanet:211266/e"} xref: MESH:D001165 {source="MONDO:relatedTo", source="Orphanet:211266", source="Orphanet:211266/e"} @@ -319809,8 +331509,10 @@ replaced_by: MONDO:0001256 id: MONDO:0016235 name: obsolete complex vascular malformation with associated anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular anomaly' +subset: gard_rare {source="GARD:20465"} subset: ordo_group_of_disorders {source="Orphanet:211277"} synonym: "hemangiolymphangioma" EXACT [Orphanet:211277] +xref: GARD:20465 {source="Orphanet:211277", source="MONDO:obsoleteEquivalent"} xref: Orphanet:211277 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -319821,13 +331523,14 @@ consider: MONDO:0019063 id: MONDO:0016236 name: kaposiform hemangioendothelioma def: "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." [Orphanet:2122] -subset: gard_rare {source="GARD:0003077"} +subset: gard_rare {source="GARD:3077"} subset: ordo_disease {source="Orphanet:2122"} synonym: "congenital cutaneous multifocal kaposiform hemangioendothelioma" RELATED [GARD:0003077] synonym: "Kaposiform hemangio-endothelioma" RELATED [GARD:0003077] synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510] synonym: "KH" RELATED ABBREVIATION [GARD:0003077] synonym: "KHE" RELATED ABBREVIATION [GARD:0003077] +xref: GARD:3077 {source="Orphanet:2122"} xref: ICD10CM:D18.0 {source="Orphanet:2122", source="Orphanet:2122/ntbt"} xref: MESH:C537007 {source="Orphanet:2122", source="MONDO:equivalentTo", source="Orphanet:2122/e"} xref: NCIT:C27510 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -319845,8 +331548,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3077/kaposif id: MONDO:0016237 name: diffuse neonatal hemangiomatosis def: "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." [Orphanet:2123] -subset: gard_rare {source="GARD:0001861"} +subset: gard_rare {source="GARD:1861"} subset: ordo_malformation_syndrome {source="Orphanet:2123"} +xref: GARD:1861 {source="Orphanet:2123"} xref: ICD10CM:Q82.8 {source="Orphanet:2123/ntbt", source="Orphanet:2123"} xref: Orphanet:2123 {source="MONDO:equivalentTo"} xref: SCTID:254782003 {source="MONDO:equivalentTo"} @@ -319859,6 +331563,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1861/diffuse id: MONDO:0016238 name: solitary fibrous tumor def: "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." [Orphanet:2126] +subset: gard_rare {source="GARD:15014"} subset: ordo_disease {source="Orphanet:2126"} synonym: "hemangiopericytoma" RELATED [NCIT:C7634] synonym: "localised fibrous mesothelioma" EXACT OMO:0003005 [] @@ -319869,6 +331574,7 @@ synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634] synonym: "solitary fibrous tumor" EXACT [NCIT:C7634] synonym: "solitary fibrous tumor/hemangiopericytoma" RELATED [ONCOTREE:SFT] synonym: "submesothelial fibroma" EXACT [NCIT:C7634] +xref: GARD:15014 {source="Orphanet:2126"} xref: ICD10CM:D21.9 {source="Orphanet:2126/ntbt", source="Orphanet:2126"} xref: ICD9:238.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8815/0 {source="NCIT:C7634"} @@ -319889,7 +331595,7 @@ relationship: disease_has_feature NCIT:C37123 {source="NCIT:C7634"} ! Neoplastic id: MONDO:0016239 name: cystinosis def: "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." [Orphanet:213] -subset: gard_rare {source="GARD:0006236"} +subset: gard_rare {source="GARD:6236"} subset: ordo_disease {source="Orphanet:213"} synonym: "cystine diathesis" RELATED [GARD:0006236] synonym: "cystine disease" RELATED [GARD:0006236] @@ -319898,6 +331604,7 @@ synonym: "Cystinoses" RELATED [GARD:0006236] synonym: "cystinosis" EXACT CLINGEN_PREFERRED [] synonym: "Protein defect of cystin transport" EXACT [Orphanet:213] xref: DOID:1064 {source="MONDO:equivalentTo"} +xref: GARD:6236 {source="Orphanet:213"} xref: ICD10CM:E72.0 {source="Orphanet:213", source="Orphanet:213/ntbt", source="Orphanet:213/inclusion"} xref: ICD10CM:E72.04 {source="DOID:1064", source="MONDO:equivalentTo"} xref: MedDRA:10011777 {source="Orphanet:213", source="Orphanet:213/e"} @@ -319923,8 +331630,10 @@ id: MONDO:0016240 name: hemimelia def: "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." [Orphanet:2130] subset: disease_grouping +subset: gard_rare {source="GARD:18761"} subset: ordo_group_of_disorders {source="Orphanet:2130"} synonym: "longitudinal meromelia" EXACT [Orphanet:2130] +xref: GARD:18761 {source="Orphanet:2130"} xref: ICD10CM:Q71.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} xref: ICD10CM:Q72.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} xref: ICD10CM:Q73.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} @@ -319943,7 +331652,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016241 name: alternating hemiplegia of childhood def: "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." [Orphanet:2131] -subset: gard_rare +subset: gard_rare {source="GARD:11"} subset: ordo_disease {source="Orphanet:2131"} synonym: "adrenal hypoplasia congenita" EXACT [NCIT:C35261] synonym: "AHC" EXACT ABBREVIATION [DOID:0050635, Orphanet:2131] @@ -319956,6 +331665,7 @@ synonym: "congenital adrenal Hypoplasia" EXACT [NCIT:C35261] synonym: "paediatric alternating hemiplegia" EXACT OMO:0003005 [] synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0050635 {source="MONDO:equivalentTo"} +xref: GARD:11 {source="Orphanet:2131"} xref: ICD10CM:G98 {source="Orphanet:2131/attributed", source="Orphanet:2131/ntbt", source="DOID:0050635", source="Orphanet:2131"} xref: MESH:C536589 {source="Orphanet:2131/e", source="MONDO:equivalentTo", source="Orphanet:2131"} xref: NCIT:C35261 {source="MONDO:equivalentTo"} @@ -319976,11 +331686,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016242 name: hemoglobin C disease def: "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." [Orphanet:2132] -subset: gard_rare {source="GARD:0002640"} +subset: gard_rare {source="GARD:2640"} subset: ordo_disease {source="Orphanet:2132"} synonym: "Hb C disease" RELATED [GARD:0002640] synonym: "Hb-C disease" EXACT [DOID:2859] xref: DOID:2859 {source="MONDO:equivalentTo"} +xref: GARD:2640 {source="Orphanet:2132"} xref: ICD10CM:D58.2 {source="Orphanet:2132", source="Orphanet:2132/attributed", source="Orphanet:2132/ntbt", source="DOID:2859"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10018883 {source="Orphanet:2132", source="Orphanet:2132/e"} @@ -319999,11 +331710,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2640/hemoglo id: MONDO:0016243 name: hemoglobin E disease def: "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." [Orphanet:2133] -subset: gard_rare {source="GARD:0002641"} +subset: gard_rare {source="GARD:2641"} subset: ordo_disease {source="Orphanet:2133"} synonym: "Hb-E disease" EXACT [DOID:5379] synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287] xref: DOID:5379 {source="MONDO:equivalentTo"} +xref: GARD:2641 {source="Orphanet:2133"} xref: ICD10CM:D58.2 {source="Orphanet:2133", source="DOID:5379", source="Orphanet:2133/attributed", source="Orphanet:2133/ntbt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053215 {source="Orphanet:2133", source="Orphanet:2133/e"} @@ -320020,7 +331732,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2641/hemoglo id: MONDO:0016244 name: atypical hemolytic-uremic syndrome def: "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction." [Orphanet:2134] -subset: gard_rare +subset: gard_rare {source="GARD:8702"} subset: ordo_disease {source="Orphanet:2134"} synonym: "aHUS" EXACT [GARD:0008702, Orphanet:2134] synonym: "atypical hemolytic uremic syndrome" EXACT [NCIT:C123223] @@ -320032,6 +331744,7 @@ synonym: "hemolytic-uremic syndrome without diarrhoea" EXACT OMO:0003005 [] synonym: "HUS, atypical" RELATED [GARD:0008702] synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223] xref: DOID:0080301 {source="MONDO:equivalentTo"} +xref: GARD:8702 {source="Orphanet:2134"} xref: ICD10CM:D58.8 {source="Orphanet:2134/attributed", source="Orphanet:2134/ntbt", source="Orphanet:2134"} xref: MESH:C538266 {source="Orphanet:2134", source="Orphanet:2134/e"} xref: MESH:D065766 {source="MONDO:equivalentTo"} @@ -320065,11 +331778,13 @@ id: MONDO:0016248 name: familial ovarian cancer def: "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:20467"} subset: ordo_group_of_disorders {source="Orphanet:213517"} synonym: "familial ovarian cancer" EXACT CLINGEN_PREFERRED [] synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517] synonym: "familial ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary] +xref: GARD:20467 {source="Orphanet:213517"} xref: ICD10CM:C56 {source="Orphanet:213517", source="Orphanet:213517/attributed", source="Orphanet:213517/ntbt"} xref: Orphanet:213517 {source="MONDO:equivalentTo"} xref: UMLS:CN201036 {source="MONDO:equivalentTo"} @@ -320083,7 +331798,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016249 name: hereditary site-specific ovarian cancer syndrome def: "Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:213524] +subset: gard_rare {source="GARD:20468"} subset: ordo_disease {source="Orphanet:213524"} +xref: GARD:20468 {source="Orphanet:213524"} xref: ICD10CM:C56 {source="Orphanet:213524/attributed", source="Orphanet:213524/ntbt", source="Orphanet:213524"} xref: Orphanet:213524 {source="MONDO:equivalentTo"} xref: UMLS:CN201037 {source="MONDO:equivalentTo"} @@ -320093,9 +331810,10 @@ is_a: MONDO:0016248 {source="Orphanet:213524"} ! familial ovarian cancer id: MONDO:0016250 name: obsolete rare adenocarcinoma of the breast def: "OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence." [MONDO:patterns/rare] -subset: gard_rare {source="GARD:0012773"} +subset: gard_rare {source="GARD:12773"} subset: ordo_disease {source="Orphanet:213528"} synonym: "rare breast adenocarcinoma" EXACT [MONDO:patterns/rare] +xref: GARD:12773 {source="MONDO:obsoleteEquivalent", source="Orphanet:213528"} xref: ICD10CM:C50.0 {source="Orphanet:213528", source="Orphanet:213528/btnt"} xref: ICD10CM:C50.1 {source="Orphanet:213528", source="Orphanet:213528/btnt"} xref: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"} @@ -320124,11 +331842,13 @@ id: MONDO:0016252 name: obsolete rare uterine cancer def: "OBSOLETE. Rare uterine cancer." [] subset: disease_grouping +subset: gard_rare {source="GARD:20469"} subset: ordo_group_of_disorders {source="Orphanet:213564"} synonym: "rare cancer of uterus" EXACT [Orphanet:213564] synonym: "rare malignant tumor of uterus" EXACT [Orphanet:213564] synonym: "rare uterine cancer" EXACT [MONDO:patterns/rare] synonym: "rare uterine malignant tumor" EXACT [Orphanet:213564] +xref: GARD:20469 {source="Orphanet:213564", source="MONDO:obsoleteEquivalent"} xref: Orphanet:213564 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0153567 {source="Orphanet:213564"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -320139,8 +331859,10 @@ replaced_by: MONDO:0002715 id: MONDO:0016253 name: obsolete rare cancer of corpus uteri subset: disease_grouping +subset: gard_rare {source="GARD:20470"} subset: ordo_group_of_disorders {source="Orphanet:213569"} synonym: "rare malignant tumor of corpus uteri" EXACT [Orphanet:213569] +xref: GARD:20470 {source="MONDO:obsoleteEquivalent", source="Orphanet:213569"} xref: Orphanet:213569 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0153574 {source="Orphanet:213569"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -320150,7 +331872,9 @@ replaced_by: MONDO:0004992 [Term] id: MONDO:0016254 name: obsolete rare variants of adenocarcinoma of the corpus uteri +subset: gard_rare {source="GARD:20471"} subset: ordo_disease {source="Orphanet:213574"} +xref: GARD:20471 {source="Orphanet:213574", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C54.1 {source="Orphanet:213574", source="Orphanet:213574/ntbt"} xref: Orphanet:213574 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201043 {source="MONDO:obsoleteEquivalent"} @@ -320166,6 +331890,7 @@ name: uterine corpus mixed epithelial and mesenchymal neoplasm def: "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." [NCIT:C40181] comment: Editor note: Consider placing Orphanet equiv with subclass (malignant form) subset: disease_grouping +subset: gard_rare {source="GARD:20472"} subset: ordo_group_of_disorders {source="Orphanet:213589"} synonym: "body of uterus mixed neoplasm" EXACT [MONDO:patterns/location] synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [Orphanet:213589] @@ -320174,6 +331899,7 @@ synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orpha synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] +xref: GARD:20472 {source="Orphanet:213589"} xref: ICD10CM:C54.0 {source="Orphanet:213589/btnt", source="Orphanet:213589"} xref: ICD10CM:C54.1 {source="Orphanet:213589/btnt", source="Orphanet:213589"} xref: ICD10CM:C54.2 {source="Orphanet:213589/btnt", source="Orphanet:213589"} @@ -320192,6 +331918,7 @@ relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213589"} ! obs id: MONDO:0016256 name: Hennekam syndrome def: "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." [Orphanet:2136] +subset: gard_rare {source="GARD:3318"} subset: ordo_malformation_syndrome {source="Orphanet:2136"} synonym: "Hennekam lymphangiectasia lymphedema syndrome" EXACT [GARD:0003318] synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366] @@ -320200,6 +331927,7 @@ synonym: "lymphangiectasies and lymphedema Hennekam type" RELATED [GARD:0003318] synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [DOID:0060366] synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [Orphanet:2136] xref: DOID:0060366 {source="MONDO:equivalentTo"} +xref: GARD:3318 {source="Orphanet:2136"} xref: ICD10CM:Q87.8 {source="Orphanet:2136/attributed", source="Orphanet:2136/ntbt", source="Orphanet:2136"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537255 {source="DOID:0060366"} @@ -320228,9 +331956,11 @@ replaced_by: MONDO:0002878 id: MONDO:0016258 name: uterine corpus carcinofibroma def: "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." [NCIT:C40182] +subset: gard_rare {source="GARD:20474"} subset: ordo_disease {source="Orphanet:213605"} synonym: "Carcinofibroma of the corpus uteri" RELATED [Orphanet:213605] synonym: "uterine corpus Carcinofibroma" EXACT [NCIT:C40182] +xref: GARD:20474 {source="Orphanet:213605"} xref: ICD10CM:C54.0 {source="Orphanet:213605", source="Orphanet:213605/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213605", source="Orphanet:213605/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213605", source="Orphanet:213605/btnt"} @@ -320247,6 +331977,7 @@ is_a: MONDO:0016255 {source="MONDO:Redundant", source="NCIT:C40182/inferred", so id: MONDO:0016259 name: carcinosarcoma of the corpus uteri def: "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." [NCIT:C9180] +subset: gard_rare {source="GARD:12335"} subset: ordo_disease {source="Orphanet:213610"} synonym: "body of uterus carcinosarcoma" EXACT [MONDO:patterns/location] synonym: "carcinosarcoma of corpus uteri" EXACT [NCIT:C9180] @@ -320313,6 +332044,7 @@ synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180] synonym: "uterine malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180] synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180] +xref: GARD:12335 {source="Orphanet:213610"} xref: ICD10CM:C54.9 {source="Orphanet:213610", source="Orphanet:213610/ntbt"} xref: NCIT:C9180 {source="MONDO:equivalentTo"} xref: Orphanet:213610 {source="MONDO:equivalentTo"} @@ -320328,12 +332060,14 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0016260 name: uterine corpus rhabdomyosarcoma def: "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." [NCIT:C127058] +subset: gard_rare {source="GARD:20475"} subset: ordo_disease {source="Orphanet:213615"} synonym: "body of uterus rhabdomyosarcoma" EXACT [] synonym: "body of uterus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of body of uterus" EXACT [] synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [Orphanet:213615] synonym: "uterine corpus rhabdomyosarcoma" EXACT [NCIT:C127058] +xref: GARD:20475 {source="Orphanet:213615"} xref: ICD10CM:C54.2 {source="Orphanet:213615", source="Orphanet:213615/ntbt"} xref: NCIT:C127058 {source="MONDO:equivalentTo"} xref: Orphanet:213615 {source="MONDO:equivalentTo"} @@ -320353,6 +332087,7 @@ replaced_by: MONDO:0005210 id: MONDO:0016262 name: leiomyosarcoma of the corpus uteri def: "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6340] +subset: gard_rare {source="GARD:20477"} subset: ordo_disease {source="Orphanet:213625"} synonym: "body of uterus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6340] synonym: "corpus uteri leiomyosarcoma" EXACT [NCIT:C6340] @@ -320372,6 +332107,7 @@ synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS] synonym: "uterus leiomyosarcoma" RELATED [DOID:5289] xref: DOID:5289 {source="MONDO:equivalentTo"} +xref: GARD:20477 {source="Orphanet:213625"} xref: ICD10CM:C54.2 {source="Orphanet:213625", source="Orphanet:213625/ntbt"} xref: NCIT:C6340 {source="DOID:5289", source="MONDO:equivalentTo"} xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"} @@ -320387,6 +332123,7 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0016263 name: primitive neuroectodermal tumor of the corpus uteri def: "A primitive neuroectodermal tumor that involves the body of uterus." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20478"} subset: ordo_disease {source="Orphanet:213630"} synonym: "body of uterus primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] synonym: "body of uterus primitive neuroectodermal tumour" EXACT OMO:0003005 [] @@ -320395,6 +332132,7 @@ synonym: "malignant peripheral neuroectodermal tumour of the corpus uteri" EXACT synonym: "peripheral neuroectodermal cancer of the corpus uteri" EXACT [Orphanet:213630] synonym: "primitive neuroectodermal tumor of body of uterus" EXACT [] synonym: "primitive neuroectodermal tumour of body of uterus" EXACT OMO:0003005 [] +xref: GARD:20478 {source="Orphanet:213630"} xref: ICD10CM:C54.0 {source="Orphanet:213630", source="Orphanet:213630/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213630", source="Orphanet:213630/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213630", source="Orphanet:213630/btnt"} @@ -320409,7 +332147,7 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0016264 name: autoimmune hepatitis def: "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." [NCIT:C27029] -subset: gard_rare +subset: gard_rare {source="GARD:5871"} subset: ordo_disease {source="Orphanet:2137"} synonym: "AIH" RELATED ABBREVIATION [GARD:0005871] synonym: "autoimmune chronic active hepatitis" NARROW [DOID:2048, https://emedicine.medscape.com/article/172356-overview#a3] @@ -320420,6 +332158,7 @@ synonym: "autoimmune liver disease" BROAD [https://emedicine.medscape.com/articl synonym: "chronic autoimmune hepatitis" NARROW [Orphanet:2137] xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"} xref: EFO:0005676 {source="MONDO:equivalentTo"} +xref: GARD:5871 {source="Orphanet:2137"} xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="Orphanet:2137/e"} xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003827 {source="Orphanet:2137", source="Orphanet:2137/e"} @@ -320449,9 +332188,11 @@ replaced_by: MONDO:0006745 id: MONDO:0016266 name: squamous cell carcinoma of the corpus uteri def: "A squamous cell carcinoma that involves the body of uterus." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20479"} subset: ordo_disease {source="Orphanet:213716"} synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial squamous cell carcinoma" RELATED [Orphanet:213716] +xref: GARD:20479 {source="Orphanet:213716"} xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"} xref: Orphanet:213716 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213716"} ! cancer @@ -320463,9 +332204,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare id: MONDO:0016267 name: undifferentiated carcinoma of the corpus uteri def: "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." [Orphanet:213721] +subset: gard_rare {source="GARD:20480"} subset: ordo_disease {source="Orphanet:213721"} synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial undifferentiated carcinoma" RELATED [Orphanet:213721] +xref: GARD:20480 {source="Orphanet:213721"} xref: ICD10CM:C50 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="Orphanet:213721"} xref: Orphanet:213721 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213721"} ! cancer @@ -320478,9 +332221,11 @@ id: MONDO:0016268 name: papillary carcinoma of the corpus uteri def: "A papillary carcinoma that involves the body of uterus." [MONDO:patterns/location] comment: Editor note: check relationship to MONDO:0006196 +subset: gard_rare {source="GARD:20481"} subset: ordo_disease {source="Orphanet:213726"} synonym: "body of uterus papillary carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial capillary carcinoma" EXACT [Orphanet:213726] +xref: GARD:20481 {source="Orphanet:213726"} xref: ICD10CM:C54.1 {source="Orphanet:213726", source="Orphanet:213726/ntbt"} xref: Orphanet:213726 {source="MONDO:equivalentTo"} xref: UMLS:CN201057 {source="MONDO:equivalentTo"} @@ -320493,10 +332238,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare id: MONDO:0016269 name: high-grade neuroendocrine carcinoma of the corpus uteri def: "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." [Orphanet:213731] +subset: gard_rare {source="GARD:20482"} subset: ordo_disease {source="Orphanet:213731"} synonym: "high-grade neuroendocrine carcinoma of the uterine corpus" EXACT [Orphanet:213731] synonym: "poorly differentiated neuroendocrine carcinoma of the corpus uteri" EXACT [Orphanet:213731] synonym: "poorly differentiated neuroendocrine carcinoma of the endometrium" EXACT [Orphanet:213731] +xref: GARD:20482 {source="Orphanet:213731"} xref: ICD10CM:C54.0 {source="Orphanet:213731", source="Orphanet:213731/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213731", source="Orphanet:213731/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213731", source="Orphanet:213731/btnt"} @@ -320512,6 +332259,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare id: MONDO:0016270 name: low-grade neuroendocrine tumor of the corpus uteri def: "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." [Orphanet:213736] +subset: gard_rare {source="GARD:20483"} subset: ordo_disease {source="Orphanet:213736"} synonym: "low-grade neuroendocrine tumor of the uterine corpus" EXACT [Orphanet:213736] synonym: "low-grade neuroendocrine tumour of the uterine corpus" EXACT OMO:0003005 [] @@ -320520,6 +332268,7 @@ synonym: "well-differentiated neuroendocrine tumor of the corpus uteri" EXACT [O synonym: "well-differentiated neuroendocrine tumor of the endometrium" EXACT [Orphanet:213736] synonym: "well-differentiated neuroendocrine tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "well-differentiated neuroendocrine tumour of the endometrium" EXACT OMO:0003005 [] +xref: GARD:20483 {source="Orphanet:213736"} xref: ICD10CM:C54.0 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213736", source="Orphanet:213736/btnt"} @@ -320553,9 +332302,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare id: MONDO:0016272 name: transitional cell carcinoma of the corpus uteri def: "A transitional cell carcinoma that involves the body of uterus." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20484"} subset: ordo_disease {source="Orphanet:213746"} synonym: "body of uterus transitional cell carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial transitional cell carcinoma" RELATED [Orphanet:213746] +xref: GARD:20484 {source="Orphanet:213746"} xref: ICD10CM:C54.1 {source="Orphanet:213746", source="Orphanet:213746/ntbt"} xref: Orphanet:213746 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213746"} ! cancer @@ -320567,6 +332318,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare id: MONDO:0016273 name: malignant germ cell tumor of corpus uteri def: "A malignant germ cell tumor that involves the body of uterus." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20485"} subset: ordo_disease {source="Orphanet:213751"} synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "body of uterus malignant germ cell tumour" EXACT OMO:0003005 [] @@ -320574,6 +332326,7 @@ synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751] synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751] synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751] synonym: "malignant germ cell tumour of the corpus uteri" RELATED OMO:0003005 [] +xref: GARD:20485 {source="Orphanet:213751"} xref: ICD10CM:C54.0 {source="Orphanet:213751", source="Orphanet:213751/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213751", source="Orphanet:213751/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213751", source="Orphanet:213751/btnt"} @@ -320591,10 +332344,12 @@ id: MONDO:0016274 name: obsolete rare cancer of cervix uteri def: "OBSOLETE. Rare cervical cancer." [] subset: disease_grouping +subset: gard_rare {source="GARD:20486"} subset: ordo_group_of_disorders {source="Orphanet:213761"} synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare, Orphanet:213761] synonym: "rare cervical malignant tumor" EXACT [Orphanet:213761] synonym: "rare malignant tumor of cervix uteri" EXACT [Orphanet:213761] +xref: GARD:20486 {source="Orphanet:213761", source="MONDO:obsoleteEquivalent"} xref: Orphanet:213761 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0007847 {source="Orphanet:213761"} xref: UMLS:C0302592 {source="Orphanet:213761", source="MONDO:directSiblingOf"} @@ -320615,10 +332370,12 @@ replaced_by: MONDO:0005153 id: MONDO:0016276 name: high-grade neuroendocrine carcinoma of the cervix uteri def: "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." [Orphanet:213777] +subset: gard_rare {source="GARD:20489"} subset: ordo_disease {source="Orphanet:213777"} synonym: "high-grade neuroendocrine carcinoma of the uterine cervix" EXACT [Orphanet:213777] synonym: "poorly differentiated neuroendocrine carcinoma of the cervix uteri" EXACT [Orphanet:213777] synonym: "poorly differentiated neuroendocrine cervical carcinoma" EXACT [Orphanet:213777] +xref: GARD:20489 {source="Orphanet:213777"} xref: ICD10CM:C53.0 {source="Orphanet:213777/btnt", source="MONDO:relatedTo", source="Orphanet:213777"} xref: ICD10CM:C53.1 {source="Orphanet:213777/btnt", source="Orphanet:213777"} xref: ICD10CM:C53.8 {source="Orphanet:213777/btnt", source="Orphanet:213777"} @@ -320631,10 +332388,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare id: MONDO:0016277 name: malignant mixed epithelial and mesenchymal tumor of cervix uteri subset: disease_grouping +subset: gard_rare {source="GARD:20490"} subset: ordo_group_of_disorders {source="Orphanet:213782"} synonym: "cervical malignant mixed epithelial and mesenchymal tumor" EXACT [Orphanet:213782] synonym: "cervical malignant mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] synonym: "mixed epithelial and mesenchymal cancer of cervix uteri" EXACT [Orphanet:213782] +xref: GARD:20490 {source="Orphanet:213782"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: ICD10CM:C53.1 {source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: ICD10CM:C53.8 {source="Orphanet:213782/btnt", source="Orphanet:213782"} @@ -320662,6 +332421,7 @@ id: MONDO:0016280 name: sarcoma of cervix uteri def: "A sarcoma involving a uterine cervix." [MONDO:patterns/sarcoma] subset: disease_grouping +subset: gard_rare {source="GARD:20493"} subset: ordo_group_of_disorders {source="Orphanet:213797"} synonym: "cervical malignant mesenchymal tumor" EXACT [Orphanet:213797] synonym: "cervical malignant mesenchymal tumour" EXACT OMO:0003005 [] @@ -320670,6 +332430,7 @@ synonym: "malignant mesenchymal tumor of cervix uteri" EXACT [Orphanet:213797] synonym: "malignant mesenchymal tumour of cervix uteri" EXACT OMO:0003005 [] synonym: "sarcoma of uterine cervix" EXACT [MONDO:patterns/sarcoma] synonym: "uterine cervix sarcoma" EXACT [MONDO:patterns/location] +xref: GARD:20493 {source="Orphanet:213797"} xref: ICD10CM:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="Orphanet:213797/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213797", source="Orphanet:213797/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213797", source="Orphanet:213797/btnt"} @@ -320684,12 +332445,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare id: MONDO:0016281 name: 46,XX ovotesticular disorder of sex development def: "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." [Orphanet:2138] +subset: gard_rare {source="GARD:16585"} subset: ordo_malformation_syndrome {source="Orphanet:2138"} synonym: "46,XX ovotesticular DSD" EXACT [Orphanet:2138] synonym: "ovotesticular differences of sex development" EXACT [NCIT:C127167] synonym: "ovotesticular disorders of sex development" EXACT [NCIT:C127167] synonym: "ovotesticular DSD" EXACT [NCIT:C127167, OMIM:400045] synonym: "true hermaphroditism" RELATED [Orphanet:2138] +xref: GARD:16585 {source="Orphanet:2138"} xref: ICD10CM:Q56.0 {source="Orphanet:2138", source="Orphanet:2138/attributed", source="Orphanet:2138/ntbt"} xref: MESH:D050090 {source="MONDO:equivalentTo", source="Orphanet:2138", source="Orphanet:2138/e"} xref: NCIT:C127167 {source="MONDO:equivalentTo"} @@ -320706,12 +332469,14 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0016282 name: rhabdomyosarcoma of the cervix uteri def: "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." [NCIT:P378] +subset: gard_rare {source="GARD:20494"} subset: ordo_disease {source="Orphanet:213802"} synonym: "CERMS" RELATED ABBREVIATION [ONCOTREE:CERMS] synonym: "cervical rhabdomyosarcoma" EXACT [NCIT:C128048, Orphanet:213802] synonym: "rhabdomyosarcoma (disease) of uterine cervix" EXACT [] synonym: "uterine cervix rhabdomyosarcoma" EXACT [] synonym: "uterine cervix rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] +xref: GARD:20494 {source="Orphanet:213802"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213802", source="Orphanet:213802/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213802", source="Orphanet:213802/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213802", source="Orphanet:213802/btnt"} @@ -320731,11 +332496,13 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0016283 name: leiomyosarcoma of the cervix uteri def: "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." [Orphanet:213807] +subset: gard_rare {source="GARD:20495"} subset: ordo_disease {source="Orphanet:213807"} synonym: "CELI" RELATED ABBREVIATION [ONCOTREE:CELI] synonym: "cervical leiomyosarcoma" EXACT [NCIT:C128047, Orphanet:213807] synonym: "leiomyosarcoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix leiomyosarcoma" EXACT [MONDO:patterns/location] +xref: GARD:20495 {source="Orphanet:213807"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213807/btnt", source="Orphanet:213807"} xref: ICD10CM:C53.1 {source="Orphanet:213807/btnt", source="Orphanet:213807"} xref: ICD10CM:C53.8 {source="Orphanet:213807/btnt", source="Orphanet:213807"} @@ -320755,6 +332522,7 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0016284 name: primitive neuroectodermal tumor of the cervix uteri def: "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." [Orphanet:213812] +subset: gard_rare {source="GARD:20496"} subset: ordo_disease {source="Orphanet:213812"} synonym: "cervical malignant peripheral neuroectodermal tumor" EXACT [Orphanet:213812] synonym: "cervical malignant peripheral neuroectodermal tumour" EXACT OMO:0003005 [] @@ -320762,6 +332530,7 @@ synonym: "cervical peripheral neuroectodermal cancer" EXACT [Orphanet:213812] synonym: "malignant peripheral neuroectodermal tumor of the cervix uteri" EXACT [Orphanet:213812] synonym: "malignant peripheral neuroectodermal tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "peripheral neuroectodermal cancer of cervix uteri" EXACT [Orphanet:213812] +xref: GARD:20496 {source="Orphanet:213812"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213812", source="Orphanet:213812/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213812", source="Orphanet:213812/btnt"} xref: ICD10CM:C53.8 {source="Orphanet:213812", source="Orphanet:213812/btnt"} @@ -320773,9 +332542,11 @@ is_a: MONDO:0016280 {source="Orphanet:213812"} ! sarcoma of cervix uteri id: MONDO:0016285 name: papillary carcinoma of the cervix uteri def: "A papillary carcinoma that involves the uterine cervix." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20497"} subset: ordo_disease {source="Orphanet:213817"} synonym: "cervical papillary carcinoma" EXACT [Orphanet:213817] synonym: "uterine cervix papillary carcinoma" EXACT [MONDO:patterns/location] +xref: GARD:20497 {source="Orphanet:213817"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213817/btnt", source="Orphanet:213817"} xref: ICD10CM:C53.1 {source="Orphanet:213817/btnt", source="Orphanet:213817"} xref: ICD10CM:C53.8 {source="Orphanet:213817/btnt", source="Orphanet:213817"} @@ -320798,10 +332569,12 @@ replaced_by: MONDO:0006133 id: MONDO:0016287 name: adenoid basal carcinoma of the cervix uteri def: "A skin adenoid basal cell carcinoma that involves the uterine cervix." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20499"} subset: ordo_disease {source="Orphanet:213828"} synonym: "cervical adenoid basal carcinoma" NARROW [Orphanet:213828] synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location] +xref: GARD:20499 {source="Orphanet:213828"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213828/btnt", source="Orphanet:213828"} xref: ICD10CM:C53.1 {source="Orphanet:213828/btnt", source="Orphanet:213828"} xref: ICD10CM:C53.8 {source="Orphanet:213828/btnt", source="Orphanet:213828"} @@ -320822,6 +332595,7 @@ replaced_by: MONDO:0004542 id: MONDO:0016289 name: malignant germ cell tumor of cervix uteri def: "A malignant germ cell tumor that involves the uterine cervix." [MONDO:patterns/location] +subset: gard_rare {source="GARD:20501"} subset: ordo_disease {source="Orphanet:213837"} synonym: "cervical germ cell cancer" EXACT [Orphanet:213837] synonym: "cervical malignant germ cell tumor" EXACT [Orphanet:213837] @@ -320832,6 +332606,7 @@ synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:21383 synonym: "malignant germ cell tumour of the cervix uteri" RELATED OMO:0003005 [] synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "uterine cervix malignant germ cell tumour" EXACT OMO:0003005 [] +xref: GARD:20501 {source="Orphanet:213837"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213837/btnt", source="Orphanet:213837"} xref: ICD10CM:C53.1 {source="Orphanet:213837/btnt", source="Orphanet:213837"} xref: ICD10CM:C53.8 {source="Orphanet:213837/btnt", source="Orphanet:213837"} @@ -320846,10 +332621,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare id: MONDO:0016290 name: Hernández-Aguirre Negrete syndrome def: "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." [Orphanet:2139] +subset: gard_rare {source="GARD:3491"} subset: ordo_malformation_syndrome {source="Orphanet:2139"} synonym: "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability" RELATED [MESH:C538112] synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" RELATED DEPRECATED [MESH:C538112] synonym: "intellectual disability-epilepsy-bulbous nose syndrome" EXACT [Orphanet:2139] +xref: GARD:3491 {source="Orphanet:2139"} xref: ICD10CM:Q87.8 {source="Orphanet:2139", source="Orphanet:2139/attributed", source="Orphanet:2139/ntbt"} xref: MESH:C538112 {source="MONDO:equivalentTo", source="Orphanet:2139", source="Orphanet:2139/e"} xref: Orphanet:2139 {source="MONDO:equivalentTo"} @@ -320868,9 +332645,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016291 name: craniosynostosis, Herrmann-Opitz type def: "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." [Orphanet:2145] -subset: gard_rare +subset: gard_rare {source="GARD:18762"} subset: ordo_malformation_syndrome {source="Orphanet:2145"} synonym: "Herrmann Opitz craniosynostosis" RELATED [GARD:0002671] +xref: GARD:18762 {source="Orphanet:2145"} xref: ICD10CM:Q75.0 {source="Orphanet:2145/attributed", source="Orphanet:2145/ntbt", source="Orphanet:2145"} xref: Orphanet:2145 {source="MONDO:equivalentTo"} xref: UMLS:CN226893 {source="MONDO:equivalentTo"} @@ -320881,10 +332659,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016292 name: nodular neuronal heterotopia +subset: gard_rare {source="GARD:16586"} subset: ordo_morphological_anomaly {source="Orphanet:2149"} synonym: "genetic nodular heterotopia" EXACT [MONDO:cjm] synonym: "hereditary nodular heterotopia" RELATED [GARD:0002661] synonym: "nodular heterotopia" EXACT [] +xref: GARD:16586 {source="Orphanet:2149"} xref: ICD10CM:Q04.8 {source="Orphanet:2149", source="Orphanet:2149/attributed", source="Orphanet:2149/ntbt"} xref: Orphanet:2149 {source="MONDO:equivalentTo"} xref: SCTID:253151003 {source="MONDO:equivalentTo"} @@ -320897,10 +332677,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2661/heredit [Term] id: MONDO:0016293 name: congenital stationary night blindness +subset: gard_rare {source="GARD:3995"} subset: ordo_disease {source="Orphanet:215"} synonym: "congenital essential nyctalopia" EXACT [DOID:0050534, Orphanet:215] synonym: "night blindness, congenital stationary" EXACT [OMIMPS:310500] xref: DOID:0050534 {source="MONDO:equivalentTo"} +xref: GARD:3995 {source="Orphanet:215"} xref: ICD10CM:H53.6 {source="Orphanet:215/attributed", source="Orphanet:215/ntbt", source="Orphanet:215"} xref: ICD10CM:H53.63 {source="DOID:0050534"} xref: ICD9:368.61 {source="MONDO:equivalentTo", source="DOID:0050534", source="MONDO:i2s"} @@ -320922,11 +332704,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:310500"} ! inheri id: MONDO:0016294 name: Hirschsprung disease-type D brachydactyly syndrome def: "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." [Orphanet:2150] +subset: gard_rare {source="GARD:2700"} subset: ordo_malformation_syndrome {source="Orphanet:2150"} synonym: "familial Hirschsprung's disease and type D brachydactyly" RELATED [GARD:0002700] synonym: "Hirschsprung disease type d brachydactyly" RELATED [GARD:0002700] synonym: "Hirschsprung disease with type D brachydactyly" RELATED [OMIM:306980] synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609] +xref: GARD:2700 {source="Orphanet:2150"} xref: ICD10CM:Q43.1 {source="Orphanet:2150/attributed", source="Orphanet:2150/ntbt", source="Orphanet:2150"} xref: MESH:C538319 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"} xref: OMIM:306980 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"} @@ -320944,12 +332728,14 @@ id: MONDO:0016295 name: neuronal ceroid lipofuscinosis def: "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." [Orphanet:216] subset: disease_grouping +subset: gard_rare {source="GARD:10739"} subset: ordo_group_of_disorders {source="Orphanet:216"} synonym: "ceroid lipofuscinoses" EXACT [OMIMPS:256730] synonym: "hereditary ceroid lipofuscinosis" EXACT [DOID:14503] synonym: "NCL" EXACT ABBREVIATION [Orphanet:216] synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_PREFERRED [] xref: DOID:14503 {source="MONDO:equivalentTo"} +xref: GARD:10739 {source="Orphanet:216"} xref: ICD10CM:E75.4 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="Orphanet:216/specific"} xref: MESH:D009472 {source="DOID:14503", source="Orphanet:216", source="Orphanet:216/e"} xref: NCIT:C61257 {source="DOID:14503", source="MONDO:equivalentTo"} @@ -320967,11 +332753,12 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256730"} ! inheri id: MONDO:0016296 name: holoprosencephaly def: "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." [Orphanet:2162] -subset: gard_rare {source="GARD:0006665"} +subset: gard_rare {source="GARD:6665"} subset: ordo_malformation_syndrome {source="Orphanet:2162"} synonym: "holoprosencephaly sequence" EXACT [NCIT:C74988] synonym: "HPE" EXACT ABBREVIATION [Orphanet:2162] xref: DOID:4621 {source="MONDO:equivalentTo"} +xref: GARD:6665 {source="Orphanet:2162"} xref: ICD10CM:Q04.2 {source="Orphanet:2162/e", source="Orphanet:2162/specific", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} xref: MedDRA:10056304 {source="Orphanet:2162/e", source="Orphanet:2162"} xref: MESH:D016142 {source="Orphanet:2162/e", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} @@ -321020,7 +332807,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016299 name: holoprosencephaly-caudal dysgenesis syndrome def: "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2165] +subset: gard_rare {source="GARD:2722"} subset: ordo_malformation_syndrome {source="Orphanet:2165"} +xref: GARD:2722 {source="Orphanet:2165"} xref: ICD10CM:Q04.2 {source="Orphanet:2165", source="MONDO:relatedTo", source="Orphanet:2165/ntbt"} xref: Orphanet:2165 {source="MONDO:equivalentTo"} xref: UMLS:CN201097 {source="MONDO:equivalentTo"} @@ -321036,7 +332825,7 @@ replaced_by: MONDO:0000153 id: MONDO:0016301 name: congenitally corrected transposition of the great arteries def: "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." [Orphanet:216694] -subset: gard_rare {source="GARD:0001544"} +subset: gard_rare {source="GARD:1544"} subset: ordo_morphological_anomaly {source="Orphanet:216694"} synonym: "congenitally corrected transposition of the great vessels" EXACT [Orphanet:216694] synonym: "discordant ventriculoarterial and atrioventricular connections" EXACT [Orphanet:216694] @@ -321049,6 +332838,7 @@ synonym: "transposition of the great arteries, congenitally corrected" RELATED [ synonym: "transposition of the great vessels, congenitally corrected" RELATED [GARD:0001544] synonym: "ventricular inversion" EXACT [Orphanet:216694] synonym: "ventriculoarterial and atrioventricular discordance" EXACT [Orphanet:216694] +xref: GARD:1544 {source="Orphanet:216694"} xref: ICD10CM:Q20.5 {source="Orphanet:216694/e", source="Orphanet:216694"} xref: ICD9:745.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011120 {source="Orphanet:216694/e", source="Orphanet:216694"} @@ -321065,8 +332855,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1544/congeni [Term] id: MONDO:0016302 name: isolated congenitally uncorrected transposition of the great arteries +subset: gard_rare {source="GARD:20502"} subset: ordo_clinical_subtype {source="Orphanet:216718"} synonym: "isolated congenitally uncorrected transposition of the great vessels" EXACT [Orphanet:216718] +xref: GARD:20502 {source="Orphanet:216718"} xref: ICD10CM:Q20.3 {source="Orphanet:216718", source="Orphanet:216718/attributed", source="Orphanet:216718/ntbt"} xref: Orphanet:216718 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:216718"} ! dextro-looped transposition of the great arteries @@ -321076,9 +332868,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016303 name: congenitally uncorrected transposition of the great arteries with cardiac malformation +subset: gard_rare {source="GARD:20503"} subset: ordo_clinical_subtype {source="Orphanet:216729"} synonym: "congenitally uncorrected transposition of the great vessels with cardiac malformation" EXACT [Orphanet:216729] synonym: "TGA with cardiac malformation" EXACT [Orphanet:216729] +xref: GARD:20503 {source="Orphanet:216729"} xref: ICD10CM:Q20.3 {source="Orphanet:216729", source="Orphanet:216729/attributed", source="Orphanet:216729/ntbt"} xref: Orphanet:216729 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:216729"} ! dextro-looped transposition of the great arteries @@ -321088,10 +332882,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016304 name: classic pantothenate kinase-associated neurodegeneration +subset: gard_rare {source="GARD:17114"} subset: ordo_clinical_subtype {source="Orphanet:216866"} synonym: "NBIA1, classic form" EXACT [Orphanet:216866] synonym: "neurodegeneration with brain iron accumulation type 1, classic form" EXACT [Orphanet:216866] synonym: "PKAN, classic form" EXACT [Orphanet:216866] +xref: GARD:17114 {source="Orphanet:216866"} xref: ICD10CM:G23.0 {source="Orphanet:216866", source="Orphanet:216866/attributed", source="Orphanet:216866/ntbt"} xref: Orphanet:216866 {source="MONDO:equivalentTo"} xref: UMLS:CN201109 {source="MONDO:equivalentTo"} @@ -321100,10 +332896,12 @@ is_a: MONDO:0009319 {source="Orphanet:216866"} ! pantothenate kinase-associated [Term] id: MONDO:0016305 name: atypical pantothenate kinase-associated neurodegeneration +subset: gard_rare {source="GARD:17115"} subset: ordo_clinical_subtype {source="Orphanet:216873"} synonym: "NBIA1, atypical form" EXACT [Orphanet:216873] synonym: "neurodegeneration with brain iron accumulation type 1, atypical form" EXACT [Orphanet:216873] synonym: "PKAN, atypical form" EXACT [Orphanet:216873] +xref: GARD:17115 {source="Orphanet:216873"} xref: ICD10CM:G23.0 {source="Orphanet:216873/attributed", source="Orphanet:216873/ntbt", source="Orphanet:216873"} xref: Orphanet:216873 {source="MONDO:equivalentTo"} xref: UMLS:CN201110 {source="MONDO:equivalentTo"} @@ -321112,7 +332910,9 @@ is_a: MONDO:0009319 {source="Orphanet:216873"} ! pantothenate kinase-associated [Term] id: MONDO:0016306 name: Niemann-Pick disease type C, severe perinatal form +subset: gard_rare {source="GARD:20504"} subset: ordo_clinical_subtype {source="Orphanet:216972"} +xref: GARD:20504 {source="Orphanet:216972"} xref: ICD10CM:E75.2 {source="Orphanet:216972/attributed", source="Orphanet:216972/ntbt", source="Orphanet:216972"} xref: Orphanet:216972 {source="MONDO:equivalentTo"} xref: UMLS:CN201112 {source="MONDO:equivalentTo"} @@ -321122,7 +332922,9 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:216972"} ! Autosom [Term] id: MONDO:0016307 name: Niemann-Pick disease type C, severe early infantile neurologic onset +subset: gard_rare {source="GARD:20505"} subset: ordo_clinical_subtype {source="Orphanet:216975"} +xref: GARD:20505 {source="Orphanet:216975"} xref: ICD10CM:E75.2 {source="Orphanet:216975/attributed", source="Orphanet:216975/ntbt", source="Orphanet:216975"} xref: Orphanet:216975 {source="MONDO:equivalentTo"} xref: UMLS:CN201113 {source="MONDO:equivalentTo"} @@ -321132,7 +332934,9 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:216975"} ! Autosom [Term] id: MONDO:0016308 name: Niemann-Pick disease type C, late infantile neurologic onset +subset: gard_rare {source="GARD:20506"} subset: ordo_clinical_subtype {source="Orphanet:216978"} +xref: GARD:20506 {source="Orphanet:216978"} xref: ICD10CM:E75.2 {source="Orphanet:216978/attributed", source="Orphanet:216978/ntbt", source="Orphanet:216978"} xref: Orphanet:216978 {source="MONDO:equivalentTo"} xref: UMLS:CN201114 {source="MONDO:equivalentTo"} @@ -321142,8 +332946,10 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:216978"} ! Autosom [Term] id: MONDO:0016309 name: Niemann-Pick disease type C, juvenile neurologic onset +subset: gard_rare {source="GARD:20507"} subset: ordo_clinical_subtype {source="Orphanet:216981"} synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981] +xref: GARD:20507 {source="Orphanet:216981"} xref: ICD10CM:E75.2 {source="Orphanet:216981/attributed", source="Orphanet:216981/ntbt", source="Orphanet:216981"} xref: Orphanet:216981 {source="MONDO:equivalentTo"} xref: UMLS:CN201115 {source="MONDO:equivalentTo"} @@ -321153,7 +332959,9 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:216981"} ! Autosom [Term] id: MONDO:0016310 name: Niemann-Pick disease type C, adult neurologic onset +subset: gard_rare {source="GARD:20508"} subset: ordo_clinical_subtype {source="Orphanet:216986"} +xref: GARD:20508 {source="Orphanet:216986"} xref: ICD10CM:E75.2 {source="Orphanet:216986/attributed", source="Orphanet:216986/ntbt", source="Orphanet:216986"} xref: Orphanet:216986 {source="MONDO:equivalentTo"} xref: UMLS:CN201116 {source="MONDO:equivalentTo"} @@ -321163,8 +332971,10 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:216986"} ! Autosom [Term] id: MONDO:0016311 name: Bockenheimer syndrome +subset: gard_rare {source="GARD:13063"} subset: ordo_malformation_syndrome {source="Orphanet:217008"} synonym: "genuine diffuse phlebectasia" EXACT [Orphanet:217008] +xref: GARD:13063 {source="Orphanet:217008"} xref: ICD10CM:Q27.4 {source="Orphanet:217008/ntbt", source="Orphanet:217008"} xref: Orphanet:217008 {source="MONDO:equivalentTo"} xref: UMLS:CN201119 {source="MONDO:equivalentTo"} @@ -321174,8 +332984,10 @@ is_a: MONDO:0019293 {source="Orphanet:217008"} ! skin vascular disease id: MONDO:0016312 name: 5-fluorouracil poisoning def: "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." [Orphanet:217064] +subset: gard_rare {source="GARD:20509"} subset: ordo_clinical_situation {source="Orphanet:217064"} synonym: "5-fluorouracil intoxication" EXACT [Orphanet:217064] +xref: GARD:20509 {source="Orphanet:217064"} xref: ICD10CM:T45.1 {source="Orphanet:217064", source="Orphanet:217064/ntbt"} xref: MESH:C531667 {source="MONDO:equivalentTo"} xref: Orphanet:217064 {source="MONDO:equivalentTo"} @@ -321195,9 +333007,11 @@ id: MONDO:0016314 name: obsolete rare carcinoma of pancreas def: "OBSOLETE. Rare pancreatic carcinoma." [] subset: disease_grouping +subset: gard_rare {source="GARD:20511"} subset: ordo_group_of_disorders {source="Orphanet:217074"} synonym: "rare exocrine pancreatic carcinoma" EXACT [MONDO:patterns/rare] synonym: "rare pancreatic carcinoma" EXACT [Orphanet:217074] +xref: GARD:20511 {source="MONDO:obsoleteEquivalent", source="Orphanet:217074"} xref: MedDRA:10033604 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MedDRA:10033609 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MESH:D010190 {source="Orphanet:217074", source="Orphanet:217074/e"} @@ -321213,6 +333027,7 @@ replaced_by: MONDO:0005192 id: MONDO:0016315 name: mucopolysaccharidosis type 2, severe form def: "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." [Orphanet:217085] +subset: gard_rare {source="GARD:17118"} subset: ordo_clinical_subtype {source="Orphanet:217085"} synonym: "Hunter syndrome type A" EXACT [Orphanet:217085] synonym: "iduronate 2-sulfatase deficiency type A" EXACT [Orphanet:217085] @@ -321222,6 +333037,7 @@ synonym: "mucopolysaccharidosis type 2, severe form" EXACT CLINGEN_PREFERRED [] synonym: "mucopolysaccharidosis type 2A" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type II, severe form" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type IIA" EXACT [Orphanet:217085] +xref: GARD:17118 {source="Orphanet:217085"} xref: ICD10CM:E76.1 {source="Orphanet:217085", source="Orphanet:217085/attributed", source="Orphanet:217085/ntbt"} xref: Orphanet:217085 {source="MONDO:equivalentTo"} xref: SCTID:73146005 {source="MONDO:equivalentTo"} @@ -321232,6 +333048,7 @@ is_a: MONDO:0010674 {source="Orphanet:217085"} ! mucopolysaccharidosis type 2 id: MONDO:0016316 name: mucopolysaccharidosis type 2, attenuated form def: "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline." [Orphanet:217093] +subset: gard_rare {source="GARD:17119"} subset: ordo_clinical_subtype {source="Orphanet:217093"} synonym: "Hunter syndrome type B" EXACT [Orphanet:217093] synonym: "iduronate 2-sulfatase deficiency type B" EXACT [Orphanet:217093] @@ -321241,6 +333058,7 @@ synonym: "mucopolysaccharidosis type 2, attenuated form" EXACT CLINGEN_PREFERRED synonym: "mucopolysaccharidosis type 2B" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type II, attenuated form" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type IIB" EXACT [Orphanet:217093] +xref: GARD:17119 {source="Orphanet:217093"} xref: ICD10CM:E76.1 {source="Orphanet:217093/attributed", source="Orphanet:217093/ntbt", source="Orphanet:217093"} xref: Orphanet:217093 {source="MONDO:equivalentTo"} xref: UMLS:CN201132 {source="MONDO:equivalentTo"} @@ -321258,13 +333076,14 @@ replaced_by: MONDO:0021081 id: MONDO:0016318 name: progressive multifocal leukoencephalopathy def: "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." [https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy] -subset: gard_rare {source="GARD:0007468"} +subset: gard_rare {source="GARD:7468"} subset: ordo_disease {source="Orphanet:217260"} synonym: "leukoencephalopathy, progressive multifocal" RELATED [GARD:0007468] synonym: "PML" EXACT ABBREVIATION [DOID:643, Orphanet:217260] synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260] xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"} xref: EFO:0007455 {source="MONDO:equivalentTo"} +xref: GARD:7468 {source="Orphanet:217260"} xref: ICD10CM:A81.2 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036807 {source="Orphanet:217260", source="Orphanet:217260/e"} @@ -321279,10 +333098,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7468/progres [Term] id: MONDO:0016319 name: congenital insensitivity to pain with hyperhidrosis +subset: gard_rare {source="GARD:20514"} subset: ordo_disease {source="Orphanet:217399"} synonym: "congenital absence of pain with hyperhidrosis" EXACT [Orphanet:217399] synonym: "congenital analgesia with hyperhidrosis" EXACT [Orphanet:217399] synonym: "congenital indifference to pain with hyperhidrosis" EXACT [Orphanet:217399] +xref: GARD:20514 {source="Orphanet:217399"} xref: ICD10CM:G90.8 {source="Orphanet:217399/attributed", source="Orphanet:217399/ntbt", source="Orphanet:217399"} xref: Orphanet:217399 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="Orphanet:217399"} ! hereditary sensory and autonomic neuropathy @@ -321293,7 +333114,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016320 name: obsolete rare hereditary thrombophilia subset: disease_grouping +subset: gard_rare {source="GARD:20515"} subset: ordo_group_of_disorders {source="Orphanet:217454"} +xref: GARD:20515 {source="MONDO:obsoleteEquivalent", source="Orphanet:217454"} xref: ICD10CM:D68.5 {source="Orphanet:217454/attributed", source="Orphanet:217454/ntbt", source="Orphanet:217454"} xref: Orphanet:217454 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C2584620 {source="MONDO:obsoleteEquivalent", source="Orphanet:217454"} @@ -321306,9 +333129,11 @@ is_obsolete: true id: MONDO:0016321 name: pulmonary interstitial glycogenosis def: "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." [Orphanet:217557] +subset: gard_rare {source="GARD:20516"} subset: ordo_disease {source="Orphanet:217557"} synonym: "infantile cellular interstitial pneumonitis" EXACT [Orphanet:217557] synonym: "pig" EXACT [Orphanet:217557] +xref: GARD:20516 {source="Orphanet:217557"} xref: ICD10CM:J84.842 {source="MONDO:equivalentTo"} xref: ICD10CM:P22.8 {source="Orphanet:217557", source="Orphanet:217557/ntbt"} xref: Orphanet:217557 {source="MONDO:equivalentTo"} @@ -321320,11 +333145,13 @@ is_a: MONDO:0017019 {source="Orphanet:217557"} ! interstitial lung disease speci id: MONDO:0016322 name: neuroendocrine cell hyperplasia of infancy def: "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." [Orphanet:217560] +subset: gard_rare {source="GARD:20517"} subset: ordo_disease {source="Orphanet:217560"} synonym: "chronic tachypnoe of infancy" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "CTI" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "NCHI" EXACT ABBREVIATION [Orphanet:217560] synonym: "NEHI" EXACT ABBREVIATION [Orphanet:217560] +xref: GARD:20517 {source="Orphanet:217560"} xref: ICD10CM:J84.841 {source="MONDO:equivalentTo"} xref: NCIT:C120169 {source="MONDO:equivalentTo"} xref: Orphanet:217560 {source="MONDO:equivalentTo"} @@ -321336,7 +333163,9 @@ is_a: MONDO:0017019 {source="Orphanet:217560"} ! interstitial lung disease speci [Term] id: MONDO:0016323 name: chronic respiratory distress with surfactant metabolism deficiency +subset: gard_rare {source="GARD:17127"} subset: ordo_disease {source="Orphanet:217566"} +xref: GARD:17127 {source="Orphanet:217566"} xref: ICD10CM:J84.8 {source="Orphanet:217566/attributed", source="Orphanet:217566/ntbt", source="Orphanet:217566"} xref: Orphanet:217566 {source="MONDO:equivalentTo"} is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis @@ -321352,9 +333181,11 @@ replaced_by: MONDO:0005045 id: MONDO:0016325 name: obsolete glycogen storage disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' +subset: gard_rare {source="GARD:20519"} subset: ordo_group_of_disorders {source="Orphanet:217572"} synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] +xref: GARD:20519 {source="MONDO:obsoleteEquivalent", source="Orphanet:217572"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:217572/attributed", source="Orphanet:217572/ntbt", source="Orphanet:217572"} xref: Orphanet:217572 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201158 {source="MONDO:obsoleteEquivalent"} @@ -321367,7 +333198,9 @@ consider: MONDO:0002412 id: MONDO:0016326 name: obsolete lysosomal disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' +subset: gard_rare {source="GARD:20520"} subset: ordo_group_of_disorders {source="Orphanet:217581"} +xref: GARD:20520 {source="MONDO:obsoleteEquivalent", source="Orphanet:217581"} xref: Orphanet:217581 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201159 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321379,7 +333212,9 @@ consider: MONDO:0002561 id: MONDO:0016327 name: obsolete mitochondrial disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:20521"} subset: ordo_group_of_disorders {source="Orphanet:217587"} +xref: GARD:20521 {source="MONDO:obsoleteEquivalent", source="Orphanet:217587"} xref: Orphanet:217587 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201160 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321391,7 +333226,9 @@ consider: MONDO:0004069 id: MONDO:0016328 name: obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' +subset: gard_rare {source="GARD:20522"} subset: ordo_group_of_disorders {source="Orphanet:217591"} +xref: GARD:20522 {source="MONDO:obsoleteEquivalent", source="Orphanet:217591"} xref: Orphanet:217591 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226902 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321412,8 +333249,10 @@ id: MONDO:0016330 name: non-familial hypertrophic cardiomyopathy def: "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20524"} subset: ordo_group_of_disorders {source="Orphanet:217598"} synonym: "acquired hypertrophic cardiomyopathy" EXACT [MONDO:patterns/acquired] +xref: GARD:20524 {source="Orphanet:217598"} xref: Orphanet:217598 {source="MONDO:equivalentTo"} xref: UMLS:CN226903 {source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="MONDO:Redundant", source="Orphanet:217598"} ! hypertrophic cardiomyopathy @@ -321424,7 +333263,9 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0016331 name: infantile systemic hyalinosis def: "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." [Orphanet:2176] +subset: gard_rare {source="GARD:6807"} subset: ordo_disease {source="Orphanet:2176"} +xref: GARD:6807 {source="Orphanet:2176"} xref: ICD10CM:E78.8 {source="Orphanet:2176", source="Orphanet:2176/attributed", source="Orphanet:2176/ntbt"} xref: OMIM:236490 {source="Orphanet:2176", source="MONDO:equivalentObsolete", source="Orphanet:2176/w"} xref: Orphanet:2176 {source="MONDO:equivalentTo"} @@ -321449,12 +333290,14 @@ name: familial dilated cardiomyopathy def: "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." [https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy] comment: Editor note: unsure if GARD is familial form subset: disease_grouping +subset: gard_rare {source="GARD:20525"} subset: ordo_group_of_disorders {source="Orphanet:217607"} synonym: "DCM" RELATED ABBREVIATION [GARD:0000221] synonym: "dilated cardiomyopathy, familial" RELATED [GARD:0002905] synonym: "hereditary dilated cardiomyopathy" EXACT [MONDO:patterns/hereditary] synonym: "hypokinetic dilated cardiomyopathy, familial" RELATED [GARD:0002905] synonym: "idiopathic dilated cardiomyopathy" RELATED [GARD:0000221] +xref: GARD:20525 {source="Orphanet:217607"} xref: ICD10CM:I42.0 {source="Orphanet:217607", source="Orphanet:217607/attributed", source="Orphanet:217607/ntbt"} xref: MESH:C536231 {source="MONDO:equivalentTo", source="Orphanet:217607", source="Orphanet:217607/e"} xref: OMIMPS:115200 {source="DOID:12930", source="MONDO:equivalentTo"} @@ -321472,7 +333315,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115200"} ! inheri id: MONDO:0016334 name: obsolete neuromuscular disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neuromuscular disease' +subset: gard_rare {source="GARD:20526"} subset: ordo_group_of_disorders {source="Orphanet:217610"} +xref: GARD:20526 {source="MONDO:obsoleteEquivalent", source="Orphanet:217610"} xref: Orphanet:217610 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201165 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321484,7 +333329,9 @@ consider: MONDO:0019056 id: MONDO:0016335 name: obsolete mitochondrial disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:20527"} subset: ordo_group_of_disorders {source="Orphanet:217613"} +xref: GARD:20527 {source="Orphanet:217613", source="MONDO:obsoleteEquivalent"} xref: Orphanet:217613 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201166 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321496,7 +333343,9 @@ consider: MONDO:0004069 id: MONDO:0016336 name: obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' +subset: gard_rare {source="GARD:20528"} subset: ordo_group_of_disorders {source="Orphanet:217616"} +xref: GARD:20528 {source="MONDO:obsoleteEquivalent", source="Orphanet:217616"} xref: Orphanet:217616 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226905 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321508,7 +333357,9 @@ consider: MONDO:0017713 id: MONDO:0016337 name: obsolete syndrome associated with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:20529"} subset: ordo_group_of_disorders {source="Orphanet:217619"} +xref: GARD:20529 {source="MONDO:obsoleteEquivalent", source="Orphanet:217619"} xref: Orphanet:217619 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201167 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321521,7 +333372,9 @@ consider: MONDO:0002254 id: MONDO:0016338 name: non-familial dilated cardiomyopathy subset: disease_grouping +subset: gard_rare {source="GARD:20530"} subset: ordo_group_of_disorders {source="Orphanet:217629"} +xref: GARD:20530 {source="Orphanet:217629"} xref: Orphanet:217629 {source="MONDO:equivalentTo"} xref: UMLS:CN226906 {source="MONDO:equivalentTo"} is_a: MONDO:0005021 {source="Orphanet:217629"} ! dilated cardiomyopathy @@ -321537,8 +333390,10 @@ id: MONDO:0016340 name: familial restrictive cardiomyopathy def: "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:20532"} subset: ordo_group_of_disorders {source="Orphanet:217635"} synonym: "hereditary restrictive cardiomyopathy" EXACT [MONDO:patterns/hereditary] +xref: GARD:20532 {source="Orphanet:217635"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:115210 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:217635 {source="MONDO:equivalentTo"} @@ -321556,7 +333411,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115210"} ! inheri id: MONDO:0016341 name: obsolete lysosomal disease with restrictive cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' +subset: gard_rare {source="GARD:20533"} subset: ordo_group_of_disorders {source="Orphanet:217638"} +xref: GARD:20533 {source="MONDO:obsoleteEquivalent", source="Orphanet:217638"} xref: Orphanet:217638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201171 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -321568,6 +333425,7 @@ consider: MONDO:0002561 id: MONDO:0016342 name: familial isolated arrhythmogenic right ventricular dysplasia def: "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." [Orphanet:217656] +subset: gard_rare {source="GARD:17129"} subset: ordo_disease {source="Orphanet:217656"} synonym: "familial isolated arrhythmogenic right ventricular cardiomyopathy" EXACT [Orphanet:217656] synonym: "familial isolated arrhythmogenic right ventricular dysplasia" EXACT CLINGEN_PREFERRED [] @@ -321575,6 +333433,7 @@ synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [Or synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [Orphanet:217656] synonym: "familial isolated ARVC" EXACT [Orphanet:217656] synonym: "familial isolated ARVD" EXACT [Orphanet:217656] +xref: GARD:17129 {source="Orphanet:217656"} xref: ICD10CM:I42.8 {source="Orphanet:217656", source="Orphanet:217656/attributed", source="Orphanet:217656/ntbt"} xref: OMIMPS:107970 {source="DOID:0050431", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:equivalentTo"} @@ -321591,7 +333450,9 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0016343 name: obsolete unclassified cardiomyopathy subset: disease_grouping +subset: gard_rare {source="GARD:20534"} subset: ordo_group_of_disorders {source="Orphanet:217678"} +xref: GARD:20534 {source="Orphanet:217678", source="MONDO:obsoleteEquivalent"} xref: Orphanet:217678 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2824" xsd:anyURI @@ -321602,11 +333463,13 @@ consider: MONDO:0004994 id: MONDO:0016344 name: hydranencephaly def: "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." [NCIT:P378] +subset: gard_rare {source="GARD:6681"} subset: ordo_malformation_syndrome {source="Orphanet:2177"} synonym: "hydranencephaly" EXACT [MONDO:ambiguous] synonym: "hydranencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Hydroanencephaly" RELATED [GARD:0006681] xref: DOID:4626 {source="MONDO:equivalentTo"} +xref: GARD:6681 {source="Orphanet:2177"} xref: HP:0002324 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.3 {source="Orphanet:2177", source="Orphanet:2177/ntbt", source="DOID:4626", source="Orphanet:2177/inclusion"} xref: MESH:D006832 {source="Orphanet:2177", source="MONDO:equivalentTo", source="Orphanet:2177/e", source="DOID:4626"} @@ -321623,8 +333486,10 @@ property_value: IAO:0000589 "hydranencephaly (disease)" xsd:string id: MONDO:0016345 name: non-familial restrictive cardiomyopathy subset: disease_grouping +subset: gard_rare {source="GARD:20535"} subset: ordo_group_of_disorders {source="Orphanet:217720"} xref: EFO:1001473 {source="MONDO:equivalentTo"} +xref: GARD:20535 {source="Orphanet:217720"} xref: Orphanet:217720 {source="MONDO:equivalentTo"} xref: UMLS:CN226908 {source="MONDO:equivalentTo"} is_a: MONDO:0005201 {source="Orphanet:217720"} ! restrictive cardiomyopathy @@ -321633,10 +333498,12 @@ is_a: MONDO:0005201 {source="Orphanet:217720"} ! restrictive cardiomyopathy id: MONDO:0016346 name: hydrocephalus-obesity-hypogonadism syndrome def: "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." [Orphanet:2183] +subset: gard_rare {source="GARD:2775"} subset: ordo_malformation_syndrome {source="Orphanet:2183"} synonym: "congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism" RELATED [GARD:0002775] synonym: "hydrocephalus obesity hypogonadism" RELATED [GARD:0002775] synonym: "Sengers-Hamel-Otten syndrome" EXACT [Orphanet:2183] +xref: GARD:2775 {source="Orphanet:2183"} xref: Orphanet:2183 {source="MONDO:equivalentTo"} xref: SCTID:721231007 {source="MONDO:equivalentTo"} xref: UMLS:CN201182 {source="MONDO:equivalentTo"} @@ -321648,8 +333515,10 @@ id: MONDO:0016347 name: obsolete rare cardiac rhythm disease def: "OBSOLETE. A rare form of cardiac rhythm disease." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping +subset: gard_rare {source="GARD:20536"} subset: ordo_group_of_disorders {source="Orphanet:218436"} synonym: "rare cardiac rhythm disease" EXACT [MONDO:patterns/rare] +xref: GARD:20536 {source="Orphanet:218436", source="MONDO:obsoleteEquivalent"} xref: Orphanet:218436 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201185 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -321659,6 +333528,8 @@ replaced_by: MONDO:0007263 [Term] id: MONDO:0016348 name: obsolete non-genetic cardiac rhythm disease +subset: gard_rare {source="GARD:20537"} +xref: GARD:20537 {source="Orphanet:218439", source="MONDO:obsoleteEquivalent"} xref: Orphanet:218439 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201186 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -321670,9 +333541,11 @@ is_obsolete: true id: MONDO:0016349 name: congenital hydrocephalus def: "Hydrocephalus that is present at birth." [NCIT:C98876] +subset: gard_rare {source="GARD:6682"} subset: ordo_malformation_syndrome {source="Orphanet:2185"} synonym: "congenital hydrocephalus" EXACT [MONDO:patterns/congenital] synonym: "HYC3" RELATED ABBREVIATION [] +xref: GARD:6682 {source="Orphanet:2185"} xref: ICD10CM:Q03 {source="MONDO:equivalentTo"} xref: ICD10CM:Q03.0 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} xref: ICD10CM:Q03.1 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} @@ -321700,11 +333573,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016350 name: hydrocephalus-blue sclerae-nephropathy syndrome def: "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." [Orphanet:2186] -subset: gard_rare +subset: gard_rare {source="GARD:236"} subset: ordo_malformation_syndrome {source="Orphanet:2186"} synonym: "Daentl-Townsend-Siegel syndrome" EXACT [Orphanet:2186] synonym: "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" EXACT [GARD:0000236, MESH:C535768] synonym: "hydrocephalus blue sclera nephropathy" EXACT [GARD:0000236, MESH:C535768] +xref: GARD:236 {source="Orphanet:2186"} xref: ICD10CM:Q87.8 {source="Orphanet:2186/attributed", source="Orphanet:2186/ntbt", source="Orphanet:2186"} xref: MESH:C535768 {source="MONDO:equivalentTo"} xref: Orphanet:2186 {source="MONDO:equivalentTo"} @@ -321721,8 +333595,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/236/daentl-t id: MONDO:0016351 name: anti-HLA hyperimmunization def: "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." [Orphanet:2194] -subset: gard_rare {source="GARD:0000730"} +subset: gard_rare {source="GARD:730"} subset: ordo_disease {source="Orphanet:2194"} +xref: GARD:730 {source="Orphanet:2194"} xref: Orphanet:2194 {source="MONDO:equivalentTo"} xref: UMLS:CN201194 {source="MONDO:equivalentTo"} is_a: MONDO:0005046 {source="Orphanet:2194"} ! immune system disorder @@ -321732,7 +333607,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/730/anti-hla [Term] id: MONDO:0016352 name: obsolete idiopathic inherited hypercalciuria +subset: gard_rare {source="GARD:16587"} synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197] +xref: GARD:16587 {source="MONDO:obsoleteEquivalent", source="Orphanet:2197"} xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"} xref: Orphanet:2197 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0543800 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2197"} @@ -321745,10 +333622,12 @@ is_obsolete: true [Term] id: MONDO:0016353 name: palmoplantar keratoderma-spastic paralysis syndrome +subset: gard_rare {source="GARD:3095"} subset: ordo_disease {source="Orphanet:2201"} synonym: "keratoderma palmoplantar spastic paralysis" RELATED [GARD:0003095] synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT [Orphanet:2201] synonym: "Powell-Venencie-Gordon syndrome" EXACT [Orphanet:2201] +xref: GARD:3095 {source="Orphanet:2201"} xref: MESH:C536153 {source="Orphanet:2201", source="Orphanet:2201/e"} xref: MESH:C538358 {source="MONDO:equivalentTo"} xref: Orphanet:2201 {source="MONDO:equivalentTo"} @@ -321763,8 +333642,10 @@ id: MONDO:0016354 name: xeroderma pigmentosum-Cockayne syndrome complex def: "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." [Orphanet:220295] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:17130"} subset: ordo_disease {source="Orphanet:220295"} synonym: "XP/CS complex" EXACT [Orphanet:220295] +xref: GARD:17130 {source="Orphanet:220295"} xref: ICD10CM:Q82.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed", source="MONDO:directSiblingOf"} xref: ICD10CM:Q87.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed"} xref: NCIT:C156031 {source="MONDO:equivalentTo"} @@ -321790,6 +333671,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016355 name: obsolete semilobar holoprosencephaly def: "OBSOLETE. Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [Orphanet:220386] +subset: gard_rare {source="GARD:17131"} +xref: GARD:17131 {source="Orphanet:220386", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.2 {source="Orphanet:220386", source="Orphanet:220386/attributed", source="Orphanet:220386/ntbt"} xref: Orphanet:220386 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0751617 {source="Orphanet:220386", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:220386/e"} @@ -321806,13 +333689,14 @@ is_obsolete: true id: MONDO:0016356 name: diffuse cutaneous systemic sclerosis def: "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." [Orphanet:220393] -subset: gard_rare {source="GARD:0009751"} +subset: gard_rare {source="GARD:9751"} subset: ordo_clinical_subtype {source="Orphanet:220393"} synonym: "DcSSc" RELATED [GARD:0009751] synonym: "diffuse cutaneous systemic scleroderma" EXACT [Orphanet:220393] synonym: "dSSc" EXACT [NCIT:C116791] synonym: "progressive cutaneous systemic scleroderma" EXACT [Orphanet:220393] synonym: "progressive cutaneous systemic sclerosis" EXACT [Orphanet:220393] +xref: GARD:9751 {source="Orphanet:220393"} xref: ICD10CM:M34.0 {source="Orphanet:220393/ntbt", source="Orphanet:220393"} xref: NCIT:C116791 {source="MONDO:equivalentTo"} xref: Orphanet:220393 {source="MONDO:equivalentTo"} @@ -321823,7 +333707,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9751/diffuse [Term] id: MONDO:0016357 name: dysplastic cortical hyperostosis -subset: gard_rare {source="GARD:0002022"} subset: ordo_malformation_syndrome {source="Orphanet:2204"} xref: ICD10CM:M89.8 {source="Orphanet:2204", source="Orphanet:2204/attributed", source="Orphanet:2204/ntbt"} xref: Orphanet:646139 {source="MONDO:equivalentTo"} @@ -321839,12 +333722,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2022/dysplas id: MONDO:0016358 name: limited cutaneous systemic sclerosis def: "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." [Orphanet:220402] +subset: gard_rare {source="GARD:1053"} subset: ordo_clinical_subtype {source="Orphanet:220402"} synonym: "limited cutaneous systemic scleroderma" EXACT [Orphanet:220402] synonym: "limited scleroderma" EXACT [MONDO:0006832] synonym: "systemic sclerosis, limited" EXACT [DOID:1577] xref: DOID:1577 {source="MONDO:equivalentTo", source="EFO:1001017"} xref: EFO:1001017 {source="MONDO:equivalentTo"} +xref: GARD:1053 {source="Orphanet:220402"} xref: ICD10CM:M34.1 {source="Orphanet:220402", source="Orphanet:220402/ntbt"} xref: MESH:D045745 {source="DOID:1577", source="MONDO:equivalentTo", source="EFO:1001017"} xref: Orphanet:220402 {source="MONDO:equivalentTo"} @@ -321859,12 +333744,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016359 name: limited systemic sclerosis def: "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin." [Orphanet:220407] +subset: gard_rare {source="GARD:9749"} subset: ordo_clinical_subtype {source="Orphanet:220407"} synonym: "progressive systemic sclerosis sine scleroderma" RELATED [GARD:0009749] synonym: "Scleroderma, sine" RELATED [GARD:0009749] synonym: "SSC without skin involvement" EXACT [NCIT:C116789] synonym: "systemic sclerosis sine scleroderma" EXACT [Orphanet:220407] synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789] +xref: GARD:9749 {source="Orphanet:220407"} xref: ICD10CM:M34.0 {source="Orphanet:220407/ntbt", source="Orphanet:220407"} xref: NCIT:C116789 {source="MONDO:equivalentTo"} xref: Orphanet:220407 {source="MONDO:equivalentTo"} @@ -321876,7 +333763,9 @@ is_a: MONDO:0005100 {source="NCIT:C116789", source="Orphanet:220407"} ! systemic id: MONDO:0016360 name: marcothrombocytopenia with mitral valve insufficiency def: "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." [Orphanet:220448] +subset: gard_rare {source="GARD:20538"} subset: ordo_disease {source="Orphanet:220448"} +xref: GARD:20538 {source="Orphanet:220448"} xref: ICD10CM:D69.4 {source="Orphanet:220448/attributed", source="Orphanet:220448/ntbt", source="Orphanet:220448"} xref: Orphanet:220448 {source="MONDO:equivalentTo"} is_a: MONDO:0018795 {source="Orphanet:220448"} ! syndromic constitutional thrombocytopenia @@ -321884,10 +333773,12 @@ is_a: MONDO:0018795 {source="Orphanet:220448"} ! syndromic constitutional thromb [Term] id: MONDO:0016361 name: obsolete isolated hereditary giant platelet disorder +subset: gard_rare {source="GARD:20539"} synonym: "isolated hereditary giant platelet disorder" EXACT CLINGEN_PREFERRED [] synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452] synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452] synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452] +xref: GARD:20539 {source="Orphanet:220452", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.1 {source="Orphanet:220452", source="Orphanet:220452/attributed", source="Orphanet:220452/ntbt"} xref: Orphanet:220452 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226911 {source="MONDO:obsoleteEquivalent"} @@ -321901,6 +333792,7 @@ is_obsolete: true id: MONDO:0016362 name: attenuated familial adenomatous polyposis def: "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." [Orphanet:220460] +subset: gard_rare {source="GARD:8532"} subset: ordo_disease {source="Orphanet:220460"} synonym: "AAPC" EXACT ABBREVIATION [NCIT:C6729] synonym: "AFAP" EXACT ABBREVIATION [NCIT:C6729, Orphanet:220460] @@ -321911,6 +333803,7 @@ synonym: "attenuated FAP" EXACT [Orphanet:220460] synonym: "hereditary flat adenoma syndrome" EXACT [NCIT:C6729] synonym: "HFAS" EXACT ABBREVIATION [NCIT:C6729] synonym: "mild form of FAP" RELATED [GARD:0008532] +xref: GARD:8532 {source="Orphanet:220460"} xref: ICD10CM:D12.6 {source="Orphanet:220460", source="Orphanet:220460/attributed", source="Orphanet:220460/ntbt"} xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="Orphanet:220460/e"} xref: NCIT:C6729 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -321925,10 +333818,12 @@ id: MONDO:0016363 name: obsolete rare hereditary hemochromatosis def: "OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." [Orphanet:220489] subset: disease_grouping +subset: gard_rare {source="GARD:20540"} subset: ordo_disease {source="Orphanet:465508"} subset: ordo_group_of_disorders {source="Orphanet:220489"} synonym: "iron overload disease" BROAD [Orphanet:220489] synonym: "rare hereditary hemochromatosis" EXACT [MONDO:patterns/rare] +xref: GARD:20540 {source="MONDO:obsoleteEquivalent", source="Orphanet:220489"} xref: ICD10CM:E83.1 {source="Orphanet:220489/attributed", source="Orphanet:220489/ntbt"} xref: ICD9:275.01 {source="EFO:0006513"} xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:directSiblingOf"} @@ -321945,13 +333840,14 @@ replaced_by: MONDO:0006507 id: MONDO:0016364 name: Joubert syndrome with ocular defect def: "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." [Orphanet:220493] -subset: gard_rare +subset: gard_rare {source="GARD:10168"} subset: ordo_disease {source="Orphanet:220493"} synonym: "JBTS3" RELATED ABBREVIATION [GARD:0010168] synonym: "Joubert syndrome 3" RELATED [GARD:0010168] synonym: "Joubert syndrome with ocular anomalies" RELATED [GARD:0010168] synonym: "Joubert syndrome with retinopathy" EXACT [Orphanet:220493] synonym: "JS-O" EXACT [Orphanet:220493] +xref: GARD:10168 {source="Orphanet:220493"} xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} xref: Orphanet:220493 {source="MONDO:equivalentTo"} @@ -321978,8 +333874,10 @@ id: MONDO:0016365 name: familial primary hyperparathyroidism def: "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:2837"} subset: ordo_group_of_disorders {source="Orphanet:2207"} synonym: "hereditary primary hyperparathyroidism (disease)" EXACT [MONDO:patterns/hereditary] +xref: GARD:2837 {source="Orphanet:2207"} xref: ICD10CM:E21.0 {source="Orphanet:2207", source="Orphanet:2207/attributed", source="Orphanet:2207/ntbt"} xref: Orphanet:2207 {source="MONDO:equivalentTo"} xref: UMLS:CN201220 {source="MONDO:equivalentTo"} @@ -321993,11 +333891,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015076"} ! rare id: MONDO:0016366 name: maternal phenylketonuria def: "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." [Orphanet:2209] +subset: gard_rare {source="GARD:3413"} subset: ordo_malformation_syndrome {source="Orphanet:2209"} synonym: "hyperphenylalaninemic embryopathy" EXACT [Orphanet:2209] synonym: "maternal hyperphenylalaninemia" EXACT [Orphanet:2209] synonym: "maternal PKU" EXACT [Orphanet:2209] synonym: "phenylketonuric embryopathy" EXACT [Orphanet:2209] +xref: GARD:3413 {source="Orphanet:2209"} xref: ICD10CM:E70.1 {source="Orphanet:2209", source="Orphanet:2209/attributed", source="Orphanet:2209/ntbt"} xref: MESH:D017042 {source="MONDO:equivalentTo"} xref: Orphanet:2209 {source="MONDO:equivalentTo"} @@ -322011,7 +333911,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016367 name: dermatomyositis def: "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." [Orphanet:221] -subset: gard_rare +subset: gard_rare {source="GARD:6263"} subset: ordo_disease {source="Orphanet:221"} synonym: "adult dermatomyositis" NARROW [GARD:0006263, Orphanet:221] synonym: "Amyopathic dermatomyositis" RELATED [DOID:10223, MESH:C538250] @@ -322021,6 +333921,7 @@ synonym: "DM" EXACT ABBREVIATION [Orphanet:221] synonym: "polymyositis with skin involvement" EXACT [DOID:10223] xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"} xref: EFO:0000398 {source="MONDO:equivalentTo"} +xref: GARD:6263 {source="Orphanet:221"} xref: ICD10CM:M33 {source="DOID:10223"} xref: ICD10CM:M33.0 {source="Orphanet:221/ntbt", source="Orphanet:221"} xref: ICD10CM:M33.1 {source="Orphanet:221/ntbt", source="Orphanet:221"} @@ -322055,11 +333956,13 @@ id: MONDO:0016368 name: Rothmund-Thomson syndrome type 1 alt_id: MONDO:0032840 def: "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." [Orphanet:221008] +subset: gard_rare {source="GARD:17134"} subset: ordo_clinical_subtype {source="Orphanet:221008"} synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625] synonym: "poikiloderma of Rothmund-Thomson type 1" EXACT [Orphanet:221008] synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [OMIM:618625] synonym: "RTS1" EXACT ABBREVIATION [Orphanet:221008] +xref: GARD:17134 {source="Orphanet:221008"} xref: ICD10CM:Q82.8 {source="Orphanet:221008", source="Orphanet:221008/attributed", source="Orphanet:221008/ntbt"} xref: NCIT:C178826 {source="MONDO:equivalentTo"} xref: OMIM:618625 {source="MONDO:equivalentTo"} @@ -322071,10 +333974,12 @@ is_a: MONDO:0010002 {source="OMIM:618625", source="Orphanet:221008"} ! Rothmund- id: MONDO:0016369 name: Rothmund-Thomson syndrome type 2 def: "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." [Orphanet:221016] +subset: gard_rare {source="GARD:17135"} subset: ordo_clinical_subtype {source="Orphanet:221016"} synonym: "poikiloderma of Rothmund-Thomson type 2" EXACT [Orphanet:221016] synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400, OMIM:genemap2] synonym: "RTS2" EXACT ABBREVIATION [Orphanet:221016] +xref: GARD:17135 {source="Orphanet:221016"} xref: ICD10CM:Q82.8 {source="Orphanet:221016", source="Orphanet:221016/attributed", source="Orphanet:221016/ntbt"} xref: NCIT:C178827 {source="MONDO:equivalentTo"} xref: OMIM:268400 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} @@ -322090,7 +333995,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016370 name: Marchiafava-Bignami disease def: "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." [https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease] -subset: gard_rare {source="GARD:0006971"} +subset: gard_rare {source="GARD:6971"} subset: ordo_disease {source="Orphanet:221074"} synonym: "acute Marchiafava-Bignami disease" NARROW [GARD:0006971] synonym: "chronic Marchiafava-Bignami syndrome" NARROW [GARD:0006971] @@ -322099,6 +334004,7 @@ synonym: "MBD" RELATED ABBREVIATION [GARD:0006971] synonym: "metabolic bone disease" EXACT [NCIT:C97045] synonym: "metabolic bone disorder" EXACT [NCIT:C97045] xref: EFO:1001809 {source="MONDO:equivalentTo"} +xref: GARD:6971 {source="Orphanet:221074"} xref: ICD10CM:G37.1 {source="Orphanet:221074/e", source="Orphanet:221074"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10026828 {source="Orphanet:221074/e", source="Orphanet:221074"} @@ -322114,7 +334020,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6971/marchia [Term] id: MONDO:0016371 name: combined hyperactive dysfunction syndrome of the cranial nerves +subset: gard_rare {source="GARD:20541"} subset: ordo_disease {source="Orphanet:221078"} +xref: GARD:20541 {source="Orphanet:221078"} xref: Orphanet:221078 {source="MONDO:equivalentTo"} xref: UMLS:CN201241 {source="MONDO:equivalentTo"} is_a: MONDO:0016374 {source="Orphanet:221078"} ! cranial neuralgia @@ -322123,13 +334031,14 @@ is_a: MONDO:0016374 {source="Orphanet:221078"} ! cranial neuralgia id: MONDO:0016372 name: glossopharyngeal neuralgia def: "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." [https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia] -subset: gard_rare {source="GARD:0006519"} +subset: gard_rare {source="GARD:6519"} subset: ordo_disease {source="Orphanet:221098"} synonym: "glossopharyngeal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM:352.1] synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098] synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern] xref: DOID:14423 {source="MONDO:equivalentTo"} +xref: GARD:6519 {source="Orphanet:221098"} xref: ICD10CM:G52.1 {source="Orphanet:221098", source="Orphanet:221098/ntbt", source="DOID:14423"} xref: ICD9:352.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14423"} xref: MedDRA:10018391 {source="Orphanet:221098", source="Orphanet:221098/e"} @@ -322160,10 +334069,12 @@ id: MONDO:0016374 name: cranial neuralgia def: "A neuralgia that involves the cranial neuron projection bundle." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:20542"} subset: ordo_group_of_disorders {source="Orphanet:221109"} synonym: "cranial neuron projection bundle neuralgia" EXACT [MONDO:patterns/location] synonym: "facial neuralgia" NARROW [Orphanet:221109] synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern] +xref: GARD:20542 {source="Orphanet:221109"} xref: Orphanet:221109 {source="MONDO:equivalentTo"} xref: SCTID:23096007 {source="MONDO:equivalentTo"} xref: UMLS:C0010269 {source="Orphanet:221109/e", source="MONDO:equivalentTo", source="Orphanet:221109"} @@ -322176,6 +334087,8 @@ intersection_of: disease_has_location UBERON:0034713 ! cranial neuron projection [Term] id: MONDO:0016375 name: obsolete acquired peripheral movement disorder +subset: gard_rare {source="GARD:20543"} +xref: GARD:20543 {source="MONDO:obsoleteEquivalent", source="Orphanet:221114"} xref: Orphanet:221114 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226913 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -322186,7 +334099,9 @@ is_obsolete: true [Term] id: MONDO:0016376 name: confetti-like macular atrophy +subset: gard_rare {source="GARD:20544"} subset: ordo_disease {source="Orphanet:221142"} +xref: GARD:20544 {source="Orphanet:221142"} xref: ICD10CM:L90.8 {source="Orphanet:221142", source="Orphanet:221142/ntbt"} xref: Orphanet:221142 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder @@ -322197,7 +334112,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016377 name: Pitt-Hopkins-like syndrome def: "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated." [GARD:0011967] -subset: gard_rare {source="GARD:0011967"} subset: ordo_disease {source="Orphanet:221150"} synonym: "PTHSL" EXACT ABBREVIATION [MONDO:cjm] xref: Orphanet:221150 {source="MONDO:equivalentObsolete"} @@ -322213,9 +334127,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11967/pitt-h id: MONDO:0016378 name: maternal hyperthermia induced birth defects def: "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached." [Orphanet:2216] -subset: gard_rare +subset: gard_rare {source="GARD:2856"} subset: ordo_malformation_syndrome {source="Orphanet:2216"} synonym: "hyperthermia induced defects" RELATED [GARD:0002856] +xref: GARD:2856 {source="Orphanet:2216"} xref: ICD10CM:Q86.8 {source="Orphanet:2216", source="Orphanet:2216/ntbt"} xref: Orphanet:2216 {source="MONDO:equivalentTo", source="GARD:0002856"} xref: SCTID:765138001 {source="MONDO:equivalentTo"} @@ -322228,8 +334143,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2856/hyperth id: MONDO:0016379 name: erosive pustular dermatosis of the scalp def: "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." [Orphanet:222] -subset: gard_rare {source="GARD:0002188"} +subset: gard_rare {source="GARD:2188"} subset: ordo_disease {source="Orphanet:222"} +xref: GARD:2188 {source="Orphanet:222"} xref: Orphanet:222 {source="MONDO:equivalentTo"} xref: SCTID:238733003 {source="MONDO:equivalentTo"} xref: UMLS:C0406464 {source="Orphanet:222/e", source="MONDO:equivalentTo", source="Orphanet:222"} @@ -322240,9 +334156,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2188/erosive id: MONDO:0016380 name: acquired hypertrichosis lanuginosa def: "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." [Orphanet:2221] -subset: gard_rare {source="GARD:0002864"} +subset: gard_rare {source="GARD:2864"} subset: ordo_disease {source="Orphanet:2221"} synonym: "hypertrichosis lanuginosa, acquired" RELATED [GARD:0002864] +xref: GARD:2864 {source="Orphanet:2221"} xref: ICD10CM:L68.1 {source="Orphanet:2221", source="MONDO:equivalentTo", source="Orphanet:2221/e"} xref: Orphanet:2221 {source="MONDO:equivalentTo"} xref: SCTID:25967007 {source="MONDO:equivalentTo"} @@ -322255,11 +334172,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2864/hypertr id: MONDO:0016381 name: hypertrichosis lanuginosa congenita def: "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." [Orphanet:2222] +subset: gard_rare {source="GARD:2865"} subset: ordo_disease {source="Orphanet:2222"} synonym: "congenital hypertrichosis lanuginosa" RELATED [GARD:0002865] synonym: "hypertrichosis lanuginosa congenita" EXACT [OMIM:145700] synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865] synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222] +xref: GARD:2865 {source="Orphanet:2222"} xref: ICD10CM:Q84.2 {source="Orphanet:2222/attributed", source="Orphanet:2222/ntbt", source="Orphanet:2222"} xref: MESH:C538389 {source="Orphanet:2222", source="MONDO:equivalentTo", source="Orphanet:2222/e"} xref: OMIM:145700 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:equivalentTo"} @@ -322276,7 +334195,9 @@ property_value: confidence "0.6235413495687472" xsd:double id: MONDO:0016382 name: hereditary poikiloderma subset: disease_grouping +subset: gard_rare {source="GARD:20545"} subset: ordo_group_of_disorders {source="Orphanet:222628"} +xref: GARD:20545 {source="Orphanet:222628"} xref: Orphanet:222628 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="Orphanet:222628"} ! epidermal disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare @@ -322285,6 +334206,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare id: MONDO:0016383 name: nephrogenic diabetes insipidus def: "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children." [Orphanet:223] +subset: gard_rare {source="GARD:7178"} subset: ordo_disease {source="Orphanet:223"} synonym: "ADH resistant diabetes insipidus" RELATED [GARD:0007178] synonym: "diabetes insipidus nephrogenic" RELATED [GARD:0007178] @@ -322292,6 +334214,7 @@ synonym: "diabetes insipidus nephrogenic type 1" RELATED [GARD:0007178] synonym: "diabetes insipidus nephrogenic X-linked" RELATED [GARD:0007178] synonym: "vasopressin-resistant diabetes insipidus" RELATED [DOID:12387] xref: DOID:12387 {source="MONDO:equivalentTo"} +xref: GARD:7178 {source="Orphanet:223"} xref: ICD10CM:N25.1 {source="Orphanet:223/specific", source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"} xref: ICD9:588.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12387"} xref: MedDRA:10029147 {source="Orphanet:223/e", source="Orphanet:223"} @@ -322310,8 +334233,10 @@ is_a: MONDO:0015962 {source="Orphanet:223"} ! inherited renal tubular disease id: MONDO:0016384 name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." [Orphanet:2230] +subset: gard_rare {source="GARD:324"} subset: ordo_disease {source="Orphanet:2230"} synonym: "Salti-Salem syndrome" EXACT [Orphanet:2230] +xref: GARD:324 {source="Orphanet:2230"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:2230/attributed", source="Orphanet:2230/ntbt", source="Orphanet:2230"} xref: Orphanet:2230 {source="MONDO:equivalentTo"} xref: SCTID:721842008 {source="MONDO:equivalentTo"} @@ -322322,12 +334247,13 @@ is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotr id: MONDO:0016385 name: hypogonadism-mitral valve prolapse-intellectual disability syndrome def: "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." [Orphanet:2233] -subset: gard_rare +subset: gard_rare {source="GARD:1078"} subset: ordo_disease {source="Orphanet:2233"} synonym: "Cantalamessa Baldini Ambrosi syndrome" RELATED [GARD:0001078] synonym: "Cantalamessa-Baldini-Ambrosi syndrome" EXACT [Orphanet:2233] synonym: "primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability" RELATED [GARD:0001078] synonym: "primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" RELATED DEPRECATED [GARD:0001078] +xref: GARD:1078 {source="Orphanet:2233"} xref: ICD10CM:Q87.8 {source="Orphanet:2233/attributed", source="Orphanet:2233/ntbt", source="Orphanet:2233"} xref: MESH:C537981 {source="MONDO:equivalentTo"} xref: Orphanet:2233 {source="MONDO:equivalentTo"} @@ -322340,8 +334266,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare id: MONDO:0016386 name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." [Orphanet:2235] +subset: gard_rare {source="GARD:1234"} subset: ordo_disease {source="Orphanet:2235"} synonym: "Chang-Davidson-Carlson syndrome" EXACT [Orphanet:2235] +xref: GARD:1234 {source="Orphanet:2235"} xref: MESH:C538075 {source="MONDO:equivalentTo"} xref: Orphanet:2235 {source="MONDO:equivalentTo"} xref: UMLS:C2931722 {source="Orphanet:2235", source="MONDO:equivalentTo", source="Orphanet:2235/e"} @@ -322355,9 +334283,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016387 name: mitochondrial oxidative phosphorylation disorder subset: disease_grouping +subset: gard_rare {source="GARD:20546"} subset: ordo_group_of_disorders {source="Orphanet:223713"} synonym: "OXPHOS disease" EXACT [Orphanet:223713] synonym: "OXPHOS system deficiency" EXACT [doi:10.1136/jmg.2006.042168] +xref: GARD:20546 {source="Orphanet:223713"} xref: Orphanet:223713 {source="MONDO:equivalentTo"} xref: UMLS:CN201288 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:223713"} ! inborn mitochondrial metabolism disorder @@ -322380,6 +334310,7 @@ replaced_by: MONDO:0005062 id: MONDO:0016390 name: familial hypoparathyroidism def: "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." [Orphanet:2238] +subset: gard_rare {source="GARD:2910"} subset: ordo_disease {source="Orphanet:2238"} synonym: "familial isolated hypoparathyroidism" EXACT [Orphanet:2238] synonym: "FIH" EXACT ABBREVIATION [OMIM:146200] @@ -322387,6 +334318,7 @@ synonym: "hypoparathyroidism familial isolated" EXACT [GARD:0002910] synonym: "hypoparathyroidism, familial" EXACT [OMIMPS:146200] synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200] xref: DOID:0111387 {source="MONDO:equivalentTo"} +xref: GARD:2910 {source="Orphanet:2238"} xref: ICD10CM:E20.8 {source="Orphanet:2238", source="Orphanet:2238/attributed", source="Orphanet:2238/ntbt"} xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="Orphanet:2238/e"} xref: OMIMPS:146200 {source="MONDO:equivalentTo"} @@ -322404,11 +334336,13 @@ id: MONDO:0016391 name: neonatal diabetes mellitus def: "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." [Orphanet:224] subset: disease_grouping +subset: gard_rare {source="GARD:18682"} subset: ordo_group_of_disorders {source="Orphanet:224"} synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248] synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717] synonym: "NDM" EXACT ABBREVIATION [Orphanet:224] xref: DOID:11717 {source="MONDO:equivalentTo"} +xref: GARD:18682 {source="Orphanet:224"} xref: ICD10CM:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="Orphanet:224/e", source="DOID:11717", source="Orphanet:224/specific"} xref: ICD9:775.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11717"} xref: MedDRA:10028933 {source="Orphanet:224", source="Orphanet:224/e"} @@ -322424,10 +334358,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare id: MONDO:0016392 name: cerebellar hypoplasia-tapetoretinal degeneration syndrome def: "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." [Orphanet:2246] -subset: gard_rare +subset: gard_rare {source="GARD:1196"} subset: ordo_malformation_syndrome {source="Orphanet:2246"} synonym: "cerebellar hypoplasia tapetoretinal degeneration" RELATED [GARD:0001196] xref: DOID:0070339 {source="MONDO:equivalentTo"} +xref: GARD:1196 {source="Orphanet:2246"} xref: ICD10CM:Q04.3 {source="Orphanet:2246/ntbt", source="Orphanet:2246"} xref: Orphanet:2246 {source="MONDO:equivalentTo", source="GARD:0001196"} is_a: MONDO:0005071 {source="GARD:0001196"} ! nervous system disorder @@ -322438,9 +334373,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1196/cerebel id: MONDO:0016393 name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome def: "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." [Orphanet:2250] +subset: gard_rare {source="GARD:16590"} subset: ordo_disease {source="Orphanet:2250"} synonym: "Bosma arhinia-microphthalmia syndrome" EXACT [Orphanet:2250] synonym: "Bosma-Henkin-Christiansen syndrome" EXACT [Orphanet:2250] +xref: GARD:16590 {source="Orphanet:2250"} xref: ICD10CM:Q87.8 {source="Orphanet:2250/attributed", source="Orphanet:2250/ntbt", source="Orphanet:2250"} xref: Orphanet:2250 {source="MONDO:equivalentTo"} xref: UMLS:CN201299 {source="MONDO:equivalentTo"} @@ -322452,12 +334389,14 @@ property_value: confidence "2.657407407407408" xsd:double id: MONDO:0016394 name: sporadic infantile bilateral striatal necrosis def: "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225147] +subset: gard_rare {source="GARD:20549"} subset: ordo_clinical_subtype {source="Orphanet:225147"} synonym: "ABSN" EXACT ABBREVIATION [Orphanet:225147] synonym: "acute bilateral striatal necrosis" EXACT [Orphanet:225147] synonym: "sporadic IBSN" EXACT [Orphanet:225147] synonym: "sporadic infantile striatonigral degeneration" EXACT [Orphanet:225147] synonym: "sporadic infantile striatonigral necrosis" EXACT [Orphanet:225147] +xref: GARD:20549 {source="Orphanet:225147"} xref: ICD10CM:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="Orphanet:225147/attributed", source="Orphanet:225147/ntbt"} xref: Orphanet:225147 {source="MONDO:equivalentTo"} is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal necrosis @@ -322465,8 +334404,10 @@ is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal ne [Term] id: MONDO:0016395 name: foveal hypoplasia-presenile cataract syndrome +subset: gard_rare {source="GARD:406"} subset: ordo_disease {source="Orphanet:2253"} synonym: "O'Donnell-Pappas syndrome" EXACT [Orphanet:2253] +xref: GARD:406 {source="Orphanet:2253"} xref: ICD10CM:H26.0 {source="Orphanet:2253", source="Orphanet:2253/attributed", source="Orphanet:2253/ntbt"} xref: MESH:C537858 {source="MONDO:equivalentTo"} xref: Orphanet:2253 {source="MONDO:equivalentTo"} @@ -322478,12 +334419,14 @@ property_value: confidence "5.6923076923076925" xsd:double id: MONDO:0016396 name: pontocerebellar hypoplasia type 1 def: "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." [Orphanet:2254] +subset: gard_rare {source="GARD:10704"} subset: ordo_malformation_syndrome {source="Orphanet:2254"} synonym: "mental retardation, autosomal recessive 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:614339] synonym: "MRT32" EXACT ABBREVIATION [MONDO:0013701, MONDO:Lexical, OMIM:614339] synonym: "Norman disease" EXACT [Orphanet:2254] synonym: "PCH1" EXACT ABBREVIATION [Orphanet:2254] xref: DOID:0112322 {source="MONDO:equivalentTo"} +xref: GARD:10704 {source="Orphanet:2254"} xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="Orphanet:2254/attributed", source="Orphanet:2254/ntbt"} xref: MESH:C548069 {source="Orphanet:2254", source="MONDO:equivalentTo", source="Orphanet:2254/e"} xref: Orphanet:2254 {source="MONDO:equivalentTo"} @@ -322498,7 +334441,9 @@ is_a: MONDO:0020135 {source="Orphanet:2254"} ! pontocerebellar hypoplasia id: MONDO:0016397 name: obsolete lysosomal disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' +subset: gard_rare {source="GARD:20550"} subset: ordo_group_of_disorders {source="Orphanet:225681"} +xref: GARD:20550 {source="MONDO:obsoleteEquivalent", source="Orphanet:225681"} xref: Orphanet:225681 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201328 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322510,7 +334455,9 @@ consider: MONDO:0002561 id: MONDO:0016398 name: obsolete peroxisomal disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peroxisomal disease' +subset: gard_rare {source="GARD:20551"} subset: ordo_group_of_disorders {source="Orphanet:225686"} +xref: GARD:20551 {source="Orphanet:225686", source="MONDO:obsoleteEquivalent"} xref: Orphanet:225686 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201329 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322522,7 +334469,9 @@ consider: MONDO:0019053 id: MONDO:0016399 name: obsolete amino acid or protein metabolism disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease +subset: gard_rare {source="GARD:20552"} subset: ordo_group_of_disorders {source="Orphanet:225689"} +xref: GARD:20552 {source="MONDO:obsoleteEquivalent", source="Orphanet:225689"} xref: Orphanet:225689 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201330 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322534,7 +334483,9 @@ consider: MONDO:0005066 id: MONDO:0016400 name: obsolete metal transport or utilization disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease +subset: gard_rare {source="GARD:20553"} subset: ordo_group_of_disorders {source="Orphanet:225692"} +xref: GARD:20553 {source="MONDO:obsoleteEquivalent", source="Orphanet:225692"} xref: Orphanet:225692 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226914 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -322547,7 +334498,9 @@ consider: MONDO:0005066 id: MONDO:0016401 name: obsolete energy metabolism disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of energy metabolism' +subset: gard_rare {source="GARD:20554"} subset: ordo_group_of_disorders {source="Orphanet:225696"} +xref: GARD:20554 {source="Orphanet:225696", source="MONDO:obsoleteEquivalent"} xref: Orphanet:225696 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226915 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322559,7 +334512,9 @@ consider: MONDO:0019243 id: MONDO:0016402 name: obsolete mitochondrial disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:20555"} subset: ordo_group_of_disorders {source="Orphanet:225700"} +xref: GARD:20555 {source="MONDO:obsoleteEquivalent", source="Orphanet:225700"} xref: Orphanet:225700 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201331 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322571,7 +334526,9 @@ consider: MONDO:0004069 id: MONDO:0016403 name: obsolete mitochondrial disease with peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:20556"} subset: ordo_group_of_disorders {source="Orphanet:225703"} +xref: GARD:20556 {source="MONDO:obsoleteEquivalent", source="Orphanet:225703"} xref: Orphanet:225703 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201332 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322583,7 +334540,9 @@ consider: MONDO:0004069 id: MONDO:0016404 name: obsolete metabolic neurotransmission anomaly with epilepsy subset: disease_grouping +subset: gard_rare {source="GARD:20557"} subset: ordo_group_of_disorders {source="Orphanet:225707"} +xref: GARD:20557 {source="MONDO:obsoleteEquivalent", source="Orphanet:225707"} xref: Orphanet:225707 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -322591,7 +334550,9 @@ is_obsolete: true id: MONDO:0016405 name: obsolete sterol metabolism disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: MONDO:0019256 +subset: gard_rare {source="GARD:20558"} subset: ordo_group_of_disorders {source="Orphanet:225710"} +xref: GARD:20558 {source="Orphanet:225710", source="MONDO:obsoleteEquivalent"} xref: Orphanet:225710 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226918 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322603,7 +334564,9 @@ consider: MONDO:0019256 id: MONDO:0016406 name: obsolete other metabolic disease with epilepsy subset: disease_grouping +subset: gard_rare {source="GARD:20559"} subset: ordo_group_of_disorders {source="Orphanet:225713"} +xref: GARD:20559 {source="MONDO:obsoleteEquivalent", source="Orphanet:225713"} xref: Orphanet:225713 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201333 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -322614,9 +334577,11 @@ is_obsolete: true id: MONDO:0016407 name: oligomeganephronia def: "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." [Orphanet:2260] +subset: gard_rare {source="GARD:4066"} subset: ordo_morphological_anomaly {source="Orphanet:2260"} synonym: "Oligomeganephronic renal hypoplasia" EXACT [DOID:0111142, Orphanet:2260] xref: DOID:0111142 {source="MONDO:equivalentTo"} +xref: GARD:4066 {source="Orphanet:2260"} xref: ICD10CM:Q60.4 {source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260/ntbt", source="Orphanet:2260"} xref: NCIT:C123202 {source="MONDO:equivalentTo"} xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"} @@ -322629,7 +334594,9 @@ id: MONDO:0016408 name: permanent congenital hypothyroidism def: "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." [Orphanet:226292] subset: disease_grouping +subset: gard_rare {source="GARD:20560"} subset: ordo_group_of_disorders {source="Orphanet:226292"} +xref: GARD:20560 {source="Orphanet:226292"} xref: ICD10CM:E03.0 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} xref: ICD10CM:E03.1 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} xref: Orphanet:226292 {source="MONDO:equivalentTo"} @@ -322642,6 +334609,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016409 name: obsolete primary congenital hypothyroidism def: "OBSOLETE. Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:226295] +subset: gard_rare {source="GARD:20561"} +xref: GARD:20561 {source="MONDO:obsoleteEquivalent", source="Orphanet:226295"} xref: ICD10CM:E03.0 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} xref: ICD10CM:E03.1 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} xref: Orphanet:226295 {source="MONDO:obsoleteEquivalent"} @@ -322656,7 +334625,7 @@ id: MONDO:0016410 name: central congenital hypothyroidism def: "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." [Orphanet:226298] subset: disease_grouping -subset: gard_rare {source="GARD:0012280"} +subset: gard_rare {source="GARD:12280"} subset: ordo_group_of_disorders {source="Orphanet:226298"} synonym: "central hypothyroidism" EXACT [NCIT:C113144] synonym: "hypothalamic-pituitary hypothyroidism" EXACT [NCIT:C113144] @@ -322664,6 +334633,7 @@ synonym: "secondary hypothyroidism" EXACT [Orphanet:226298] synonym: "thyroid stimulating hormone deficiency" EXACT [NCIT:C113144] synonym: "thyrotropin deficiency" EXACT [NCIT:C113144] synonym: "TSH deficiency" EXACT [NCIT:C113144] +xref: GARD:12280 {source="Orphanet:226298"} xref: ICD10CM:E03.1 {source="Orphanet:226298/attributed", source="Orphanet:226298/ntbt", source="Orphanet:226298"} xref: NCIT:C113144 {source="MONDO:equivalentTo"} xref: Orphanet:226298 {source="MONDO:equivalentTo"} @@ -322679,7 +334649,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12280/centra id: MONDO:0016411 name: hypothyroidism due to deficient transcription factors involved in pituitary development or function def: "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." [Orphanet:226307] +subset: gard_rare {source="GARD:20562"} subset: ordo_disease {source="Orphanet:226307"} +xref: GARD:20562 {source="Orphanet:226307"} xref: ICD10CM:E03.1 {source="Orphanet:226307", source="Orphanet:226307/attributed", source="Orphanet:226307/ntbt"} xref: Orphanet:226307 {source="MONDO:equivalentTo"} xref: UMLS:CN201345 {source="MONDO:equivalentTo"} @@ -322697,7 +334669,9 @@ is_a: MONDO:0016408 {source="Orphanet:226310"} ! permanent congenital hypothyroi [Term] id: MONDO:0016413 name: congenital hypothyroidism due to maternal intake of antithyroid drugs +subset: gard_rare {source="GARD:20563"} subset: ordo_disease {source="Orphanet:226313"} +xref: GARD:20563 {source="Orphanet:226313"} xref: ICD10CM:P72.2 {source="Orphanet:226313", source="Orphanet:226313/ntbt"} xref: Orphanet:226313 {source="MONDO:equivalentTo"} is_a: MONDO:0016555 {source="Orphanet:226313"} ! transient congenital hypothyroidism due to maternal factor @@ -322708,8 +334682,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016414 name: hypotrichosis-intellectual disability, Lopes type def: "A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." [Orphanet:2266] +subset: gard_rare {source="GARD:18763"} subset: ordo_disease {source="Orphanet:2266"} synonym: "Lopes-Marques de Faria syndrome" EXACT [Orphanet:2266] +xref: GARD:18763 {source="Orphanet:2266"} xref: Orphanet:2266 {source="MONDO:equivalentTo"} xref: UMLS:CN201347 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -322726,9 +334702,10 @@ replaced_by: MONDO:0000133 [Term] id: MONDO:0016416 name: diphallia -subset: gard_rare {source="GARD:0001872"} +subset: gard_rare {source="GARD:1872"} subset: ordo_morphological_anomaly {source="Orphanet:227"} synonym: "Diphallus" RELATED [GARD:0001872] +xref: GARD:1872 {source="Orphanet:227"} xref: ICD10CM:Q55.6 {source="Orphanet:227", source="Orphanet:227/ntbt"} xref: ICD9:752.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227 {source="MONDO:equivalentTo"} @@ -322743,8 +334720,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1872/diphall [Term] id: MONDO:0016417 name: congenital ichthyosis-microcephalus-tetraplegia syndrome +subset: gard_rare {source="GARD:1489"} subset: ordo_disease {source="Orphanet:2271"} synonym: "congenital ichthyosis-microcephalus-quadriplegia syndrome" EXACT [Orphanet:2271] +xref: GARD:1489 {source="Orphanet:2271"} xref: ICD10CM:Q87.8 {source="Orphanet:2271/attributed", source="Orphanet:2271/ntbt", source="Orphanet:2271"} xref: Orphanet:2271 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -322756,11 +334735,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016418 name: multiple system atrophy, cerebellar type def: "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." [Orphanet:227510] +subset: gard_rare {source="GARD:20565"} subset: ordo_clinical_subtype {source="Orphanet:227510"} synonym: "MSA, cerebellar type" EXACT [Orphanet:227510] synonym: "MSA-c" EXACT [Orphanet:227510] synonym: "sporadic olivopontocerebellar atrophy type 1" EXACT [Orphanet:227510] synonym: "sporadic OPCA type 1" EXACT [Orphanet:227510] +xref: GARD:20565 {source="Orphanet:227510"} xref: ICD10CM:G90.3 {source="Orphanet:227510/ntbt", source="Orphanet:227510"} xref: Orphanet:227510 {source="MONDO:equivalentTo"} xref: UMLS:CN201371 {source="MONDO:equivalentTo"} @@ -322773,6 +334754,7 @@ name: hereditary breast carcinoma def: "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." [NCIT:P378] comment: Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 subset: clingen +subset: gard_rare {source="GARD:17142"} subset: ordo_disease {source="Orphanet:227535"} synonym: "breast cancer susceptibility, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] synonym: "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] @@ -322790,6 +334772,7 @@ synonym: "familial cancer of breast" EXACT [NCIT:C4503] synonym: "familial cancer of the breast" EXACT [NCIT:C4503] synonym: "hereditary breast cancer" EXACT [NCIT:C4503] synonym: "hereditary breast carcinoma" EXACT CLINGEN_PREFERRED [MONDO:patterns/hereditary, NCIT:C4503, Orphanet:227535] +xref: GARD:17142 {source="Orphanet:227535"} xref: ICD10CM:C50.0 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} xref: ICD10CM:C50.1 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} xref: ICD10CM:C50.2 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"} @@ -322825,7 +334808,9 @@ is_a: MONDO:0020242 {source="Orphanet:227786"} ! hereditary macular dystrophy id: MONDO:0016421 name: toxic oil syndrome def: "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." [Orphanet:227972] +subset: gard_rare {source="GARD:20566"} subset: ordo_disease {source="Orphanet:227972"} +xref: GARD:20566 {source="Orphanet:227972"} xref: MedDRA:10051222 {source="Orphanet:227972/e", source="Orphanet:227972"} xref: Orphanet:227972 {source="MONDO:equivalentTo"} xref: SCTID:239910001 {source="MONDO:equivalentTo"} @@ -322837,6 +334822,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0016422 name: autoimmune polyendocrinopathy type 3 def: "A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:227982] +subset: gard_rare {source="GARD:10980"} subset: ordo_disease {source="Orphanet:227982"} synonym: "APS type 3" EXACT [Orphanet:227982] synonym: "APS3" EXACT ABBREVIATION [Orphanet:227982] @@ -322844,6 +334830,7 @@ synonym: "autoimmune polyendocrine syndrome type 3" EXACT [Orphanet:227982] synonym: "autoimmune polyglandular syndrome type 3" EXACT [Orphanet:227982] synonym: "PAS3" RELATED ABBREVIATION [GARD:0010980] synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980] +xref: GARD:10980 {source="Orphanet:227982"} xref: ICD10CM:E31.0 {source="Orphanet:227982/ntbt", source="Orphanet:227982"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227982 {source="MONDO:equivalentTo"} @@ -322857,11 +334844,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015886"} ! rare [Term] id: MONDO:0016423 name: autoimmune polyendocrinopathy type 4 +subset: gard_rare {source="GARD:20567"} subset: ordo_disease {source="Orphanet:227990"} synonym: "APS type 4" EXACT [Orphanet:227990] synonym: "APS4" EXACT ABBREVIATION [Orphanet:227990] synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990] synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990] +xref: GARD:20567 {source="Orphanet:227990"} xref: ICD10CM:E31.0 {source="Orphanet:227990", source="Orphanet:227990/ntbt"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227990 {source="MONDO:equivalentTo"} @@ -322875,10 +334864,12 @@ id: MONDO:0016424 name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome def: "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." [Orphanet:228012] comment: Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this +subset: gard_rare {source="GARD:17145"} subset: ordo_disease {source="Orphanet:228012"} synonym: "progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] synonym: "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] synonym: "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] +xref: GARD:17145 {source="Orphanet:228012"} xref: Orphanet:228012 {source="MONDO:equivalentTo"} xref: UMLS:CN201381 {source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy @@ -322889,7 +334880,9 @@ id: MONDO:0016425 name: Hughes-Stovin syndrome def: "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." [Orphanet:228116] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530) +subset: gard_rare {source="GARD:20569"} subset: ordo_disease {source="Orphanet:228116"} +xref: GARD:20569 {source="Orphanet:228116"} xref: ICD10CM:I28.8 {source="Orphanet:228116", source="Orphanet:228116/ntbt"} xref: Orphanet:228116 {source="MONDO:equivalentTo"} xref: SCTID:721226005 {source="MONDO:equivalentTo"} @@ -322902,6 +334895,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016426 name: fusariosis def: "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." [Orphanet:228119] +subset: gard_rare {source="GARD:20570"} subset: ordo_disease {source="Orphanet:228119"} synonym: "Fusarium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fusarium disease or disorder" EXACT [] @@ -322909,6 +334903,7 @@ synonym: "Fusarium infection" EXACT [Orphanet:228119] synonym: "Fusarium infectious disease" EXACT [] xref: DOID:0050289 {source="MONDO:equivalentTo"} xref: EFO:1001795 {source="MONDO:equivalentTo"} +xref: GARD:20570 {source="Orphanet:228119"} xref: MedDRA:10051919 {source="Orphanet:228119", source="Orphanet:228119/e"} xref: MESH:D060585 {source="MONDO:equivalentTo"} xref: Orphanet:228119 {source="MONDO:equivalentTo"} @@ -322929,6 +334924,8 @@ replaced_by: MONDO:0005706 [Term] id: MONDO:0016428 name: obsolete multiple sclerosis variant +subset: gard_rare {source="GARD:20571"} +xref: GARD:20571 {source="MONDO:obsoleteEquivalent", source="Orphanet:228145"} xref: Orphanet:228145 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -322939,9 +334936,11 @@ is_obsolete: true id: MONDO:0016429 name: Marburg acute multiple sclerosis def: "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients." [Orphanet:228157] +subset: gard_rare {source="GARD:20572"} subset: ordo_disease {source="Orphanet:228157"} synonym: "acute multiple sclerosis, Marburg type" EXACT [Orphanet:228157] synonym: "acute multiple sclerosis, Marburg variant" EXACT [Orphanet:228157] +xref: GARD:20572 {source="Orphanet:228157"} xref: Orphanet:228157 {source="MONDO:equivalentTo"} xref: SCTID:766246000 {source="MONDO:equivalentTo"} is_a: MONDO:0005301 {source="https://orcid.org/0000-0002-4142-7153"} ! multiple sclerosis @@ -322952,7 +334951,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016430 name: Balo concentric sclerosis def: "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." [GARD:0005885] -subset: gard_rare +subset: gard_rare {source="GARD:5885"} subset: ordo_disease {source="Orphanet:228165"} synonym: "Balo concentric sclerosis" EXACT [MONDO:0000713] synonym: "Balo disease" RELATED [GARD:0005885] @@ -322965,6 +334964,7 @@ synonym: "encephalitis periaxialis concentrica" RELATED [GARD:0005885] synonym: "Marburg variant" RELATED [GARD:0005885] synonym: "Tumefactive multiple sclerosis" RELATED [GARD:0005885] xref: DOID:0060215 {source="MONDO:equivalentTo"} +xref: GARD:5885 {source="Orphanet:228165"} xref: ICD10CM:G31.81 {source="DOID:0060215"} xref: ICD10CM:G37.0 {source="DOID:0060215"} xref: ICD10CM:G37.5 {source="Orphanet:228165/e", source="Orphanet:228165"} @@ -322993,8 +334993,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5885/tumefac id: MONDO:0016431 name: autosomal dominant Charcot-Marie-Tooth disease type 2M def: "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." [Orphanet:228179] +subset: gard_rare {source="GARD:17147"} subset: ordo_disease {source="Orphanet:228179"} synonym: "CMT2M" EXACT ABBREVIATION [Orphanet:228179] +xref: GARD:17147 {source="Orphanet:228179"} xref: ICD10CM:G60.0 {source="Orphanet:228179/attributed", source="Orphanet:228179/ntbt", source="Orphanet:228179"} xref: Orphanet:228179 {source="MONDO:equivalentTo"} xref: SCTID:719514002 {source="MONDO:equivalentTo"} @@ -323010,8 +335012,10 @@ id: MONDO:0016432 name: heart-hand syndrome def: "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." [Orphanet:228184] subset: disease_grouping +subset: gard_rare {source="GARD:20573"} subset: ordo_group_of_disorders {source="Orphanet:228184"} synonym: "atriodigital dysplasia" EXACT [Orphanet:228184] +xref: GARD:20573 {source="Orphanet:228184"} xref: ICD10CM:Q87.2 {source="Orphanet:228184", source="Orphanet:228184/attributed", source="Orphanet:228184/ntbt"} xref: Orphanet:228184 {source="MONDO:equivalentTo"} xref: UMLS:C0265264 {source="Orphanet:228184"} @@ -323027,8 +335031,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016433 name: dysmorphism-short stature-deafness-disorder of sex development syndrome def: "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." [Orphanet:2282] +subset: gard_rare {source="GARD:18764"} subset: ordo_malformation_syndrome {source="Orphanet:2282"} synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [Orphanet:2282] +xref: GARD:18764 {source="Orphanet:2282"} xref: ICD10CM:Q87.8 {source="Orphanet:2282/attributed", source="Orphanet:2282/ntbt", source="Orphanet:2282"} xref: Orphanet:2282 {source="MONDO:equivalentTo"} xref: UMLS:CN201392 {source="MONDO:equivalentTo"} @@ -323044,7 +335050,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016434 name: obsolete acquired dermis elastic tissue disorder def: "OBSOLETE. An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:20575"} synonym: "acquired dermis elastic tissue disorder" EXACT [MONDO:patterns/acquired] +xref: GARD:20575 {source="Orphanet:228218", source="MONDO:obsoleteEquivalent"} xref: Orphanet:228218 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226927 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -323056,7 +335064,9 @@ is_obsolete: true id: MONDO:0016435 name: obsolete acquired dermis elastic tissue disorder with decreased elastic tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' +subset: gard_rare {source="GARD:20576"} subset: ordo_group_of_disorders {source="Orphanet:228221"} +xref: GARD:20576 {source="MONDO:obsoleteEquivalent", source="Orphanet:228221"} xref: Orphanet:228221 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226928 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -323068,7 +335078,9 @@ consider: MONDO:0016434 id: MONDO:0016436 name: obsolete acquired dermis elastic tissue disorder with increased elastic tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' +subset: gard_rare {source="GARD:20577"} subset: ordo_group_of_disorders {source="Orphanet:228224"} +xref: GARD:20577 {source="MONDO:obsoleteEquivalent", source="Orphanet:228224"} xref: Orphanet:228224 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226929 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -323080,9 +335092,11 @@ consider: MONDO:0016434 id: MONDO:0016437 name: late-onset focal dermal elastosis def: "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." [Orphanet:228227] +subset: gard_rare {source="GARD:20578"} subset: ordo_disease {source="Orphanet:228227"} synonym: "pseudoxanthoma-like late-onset focal dermal elastosis" EXACT [Orphanet:228227] synonym: "PXE-like late-onset focal dermal elastosis" EXACT [Orphanet:228227] +xref: GARD:20578 {source="Orphanet:228227"} xref: Orphanet:228227 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -323092,9 +335106,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016438 name: linear focal dermal elastosis def: "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." [Orphanet:228236] +subset: gard_rare {source="GARD:20579"} subset: ordo_disease {source="Orphanet:228236"} synonym: "Elastotic striae" EXACT [Orphanet:228236] synonym: "linear focal elastosis" RELATED [Orphanet:228236] +xref: GARD:20579 {source="Orphanet:228236"} xref: Orphanet:228236 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -323104,8 +335120,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016439 name: elastoderma def: "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." [https://rarediseases.info.nih.gov/diseases/12716/elastoderma] -subset: gard_rare {source="GARD:0012716"} +subset: gard_rare {source="GARD:12716"} subset: ordo_disease {source="Orphanet:228240"} +xref: GARD:12716 {source="Orphanet:228240"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228240 {source="MONDO:equivalentTo"} xref: SCTID:238832003 {source="MONDO:equivalentTo"} @@ -323119,8 +335136,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12716/elasto id: MONDO:0016440 name: elastofibroma dorsi def: "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." [NCIT:C4245] +subset: gard_rare {source="GARD:20580"} subset: ordo_disease {source="Orphanet:228243"} synonym: "Elastofibroma" EXACT [NCIT:C4245] +xref: GARD:20580 {source="Orphanet:228243"} xref: ICDO:8820/0 {source="NCIT:C4245"} xref: NCIT:C4245 {source="MONDO:equivalentTo"} xref: Orphanet:228243 {source="MONDO:equivalentTo"} @@ -323132,6 +335151,7 @@ is_a: MONDO:0006209 {source="NCIT:C4245"} ! fibroblastic neoplasm id: MONDO:0016441 name: acquired pseudoxanthoma elasticum def: "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." [PMID:528701] +subset: gard_rare {source="GARD:20581"} subset: ordo_disease {source="Orphanet:228247"} synonym: "acquired Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:228247] synonym: "acquired pseudoxanthoma elasticum" EXACT [MONDO:patterns/acquired] @@ -323139,6 +335159,7 @@ synonym: "acquired pseudoxanthoma elasticum (inherited or acquired)" EXACT [MOND synonym: "acquired PXE" EXACT [Orphanet:228247] synonym: "localised acquired cutaneous pseudoxanthoma elasticum" EXACT OMO:0003005 [] synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528701] +xref: GARD:20581 {source="Orphanet:228247"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228247 {source="MONDO:equivalentTo"} xref: SCTID:403401007 {source="MONDO:equivalentTo"} @@ -323149,10 +335170,12 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0016442 name: elastoma +subset: gard_rare {source="GARD:20582"} subset: ordo_disease {source="Orphanet:228254"} synonym: "juvenile elastoma without osteopoikilosis" EXACT [Orphanet:228254] synonym: "Nevus elasticus" EXACT [Orphanet:228254] synonym: "Weidman juvenile elastoma" EXACT [Orphanet:228254] +xref: GARD:20582 {source="Orphanet:228254"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228254 {source="MONDO:equivalentTo"} xref: SCTID:239140003 {source="MONDO:equivalentTo"} @@ -323165,10 +335188,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016443 name: papular elastorrhexis def: "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." [NCIT:C4707] +subset: gard_rare {source="GARD:20583"} subset: ordo_disease {source="Orphanet:228264"} synonym: "disseminated nevus anelasticus" EXACT [Orphanet:228264] synonym: "eruptive collagenoma" EXACT [Orphanet:228264] synonym: "Nevus anelasticus" EXACT [Orphanet:228264] +xref: GARD:20583 {source="Orphanet:228264"} xref: NCIT:C4707 {source="MONDO:equivalentTo"} xref: Orphanet:228264 {source="MONDO:equivalentTo"} xref: SCTID:239138008 {source="MONDO:equivalentTo"} @@ -323181,8 +335206,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016444 name: primary anetoderma def: "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." [Orphanet:228272] +subset: gard_rare {source="GARD:20584"} subset: ordo_disease {source="Orphanet:228272"} synonym: "primary macular atrophy" EXACT [Orphanet:228272] +xref: GARD:20584 {source="Orphanet:228272"} xref: ICD10CM:L90.1 {source="Orphanet:228272", source="Orphanet:228272/btnt"} xref: ICD10CM:L90.2 {source="Orphanet:228272", source="Orphanet:228272/btnt"} xref: MESH:D057088 {source="MONDO:equivalentTo"} @@ -323197,9 +335224,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016445 name: familial anetoderma def: "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder." [Orphanet:228277] +subset: gard_rare {source="GARD:20585"} subset: ordo_disease {source="Orphanet:228277"} synonym: "hereditary anetoderma" EXACT [Orphanet:228277] synonym: "hereditary macular atrophy" EXACT [Orphanet:228277] +xref: GARD:20585 {source="Orphanet:228277"} xref: ICD10CM:L90.8 {source="Orphanet:228277/attributed", source="Orphanet:228277/ntbt", source="Orphanet:228277"} xref: Orphanet:228277 {source="MONDO:equivalentTo"} xref: SCTID:733467001 {source="MONDO:equivalentTo"} @@ -323213,9 +335242,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016446 name: acquired cutis laxa def: "An instance of cutis laxa that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:20586"} subset: ordo_disease {source="Orphanet:228285"} synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired] synonym: "cutis laxa acquisita" EXACT [Orphanet:228285] +xref: GARD:20586 {source="Orphanet:228285"} xref: Orphanet:228285 {source="MONDO:equivalentTo"} xref: SCTID:19726003 {source="MONDO:equivalentTo"} xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="Orphanet:228285", source="Orphanet:228285/e"} @@ -323227,7 +335258,9 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0016447 name: white fibrous papulosis of the neck def: "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." [Orphanet:228290] +subset: gard_rare {source="GARD:20587"} subset: ordo_disease {source="Orphanet:228290"} +xref: GARD:20587 {source="Orphanet:228290"} xref: Orphanet:228290 {source="MONDO:equivalentTo"} xref: UMLS:CN226935 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder @@ -323238,9 +335271,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016448 name: pseudoxanthoma elasticum-like papillary dermal elastolysis def: "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." [Orphanet:228293] +subset: gard_rare {source="GARD:20588"} subset: ordo_disease {source="Orphanet:228293"} synonym: "PXE-like papillary dermal elastolysis" EXACT [Orphanet:228293] synonym: "PXE-PDE" EXACT [] +xref: GARD:20588 {source="Orphanet:228293"} xref: Orphanet:228293 {source="MONDO:equivalentTo"} xref: SCTID:764105002 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="Orphanet:228293"} ! skin disorder @@ -323249,7 +335284,9 @@ relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticu [Term] id: MONDO:0016449 name: mid-dermal elastolysis +subset: gard_rare {source="GARD:20589"} subset: ordo_disease {source="Orphanet:228299"} +xref: GARD:20589 {source="Orphanet:228299"} xref: Orphanet:228299 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -323260,10 +335297,12 @@ id: MONDO:0016450 name: autoimmune hemolytic anemia, cold type def: "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." [Orphanet:228312] subset: disease_grouping +subset: gard_rare {source="GARD:20590"} subset: ordo_group_of_disorders {source="Orphanet:228312"} synonym: "cAHA" EXACT [Orphanet:228312] synonym: "cAIHA" EXACT [Orphanet:228312] synonym: "cold AIHA" EXACT [Orphanet:228312] +xref: GARD:20590 {source="Orphanet:228312"} xref: ICD10CM:D59.1 {source="Orphanet:228312/ntbt", source="Orphanet:228312"} xref: Orphanet:228312 {source="MONDO:equivalentTo"} xref: UMLS:C0175816 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228312"} @@ -323300,9 +335339,11 @@ is_a: MONDO:0018044 {source="Orphanet:228318"} ! idiopathic hypersomnia id: MONDO:0016453 name: foodborne botulism def: "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." [Orphanet:228371] +subset: gard_rare {source="GARD:20591"} subset: ordo_clinical_subtype {source="Orphanet:228371"} synonym: "intoxication botulism" EXACT [Orphanet:228371] xref: DOID:0050352 {source="MONDO:equivalentTo"} +xref: GARD:20591 {source="Orphanet:228371"} xref: ICD10CM:A05.1 {source="Orphanet:228371", source="Orphanet:228371/ntbt"} xref: ICD9:005.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C128341 {source="MONDO:equivalentTo"} @@ -323324,6 +335365,7 @@ relationship: disease_has_infectious_agent NCBITaxon:36831 ! Clostridium botulin id: MONDO:0016454 name: Charcot-Marie-Tooth disease type 2B5 def: "A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities." [https://orcid.org/0000-0001-5208-3432, Orphanet:228374] +subset: gard_rare {source="GARD:17153"} subset: ordo_disease {source="Orphanet:228374"} synonym: "AR-CMT2B5" EXACT [Orphanet:228374] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374] @@ -323331,6 +335373,7 @@ synonym: "Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374] synonym: "SEOAN due to NEFL deficiency" EXACT [Orphanet:228374] synonym: "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" EXACT [Orphanet:228374] synonym: "severe early-onset axonal neuropathy due to NEFL deficiency" EXACT [] +xref: GARD:17153 {source="Orphanet:228374"} xref: ICD10CM:G60.0 {source="Orphanet:228374/attributed", source="Orphanet:228374/ntbt", source="Orphanet:228374"} xref: Orphanet:228374 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2 @@ -323339,12 +335382,14 @@ is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-M id: MONDO:0016455 name: virus-associated trichodysplasia spinulosa def: "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." [Orphanet:228379] +subset: gard_rare {source="GARD:20592"} subset: ordo_disease {source="Orphanet:228379"} synonym: "Cyclosporine-induced folliculodystrophy" EXACT [Orphanet:228379] synonym: "pilomatrix dysplasia" EXACT [Orphanet:228379] synonym: "trichodysplasia spinulosa" EXACT [Orphanet:228379] synonym: "TS" EXACT ABBREVIATION [Orphanet:228379] synonym: "VATS" EXACT ABBREVIATION [Orphanet:228379] +xref: GARD:20592 {source="Orphanet:228379"} xref: Orphanet:228379 {source="MONDO:equivalentTo"} xref: UMLS:C3267126 {source="MONDO:equivalentTo", source="Orphanet:228379"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -323356,12 +335401,14 @@ id: MONDO:0016456 name: 5q14.3 microdeletion syndrome def: "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." [Orphanet:228384] comment: Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this +subset: gard_rare {source="GARD:12166"} subset: ordo_malformation_syndrome {source="Orphanet:228384"} synonym: "5q14.3 deletion syndrome" RELATED [GARD:0012166] synonym: "autosomal dominant intellectual disability 20" RELATED [GARD:0012166] synonym: "chromosome 5q14.3 deletion syndrome" RELATED [GARD:0012166] synonym: "Del(5)(q14.3)" EXACT [Orphanet:228384] synonym: "monosomy 5q14.3" EXACT [Orphanet:228384] +xref: GARD:12166 {source="Orphanet:228384"} xref: ICD10CM:Q93.5 {source="Orphanet:228384", source="Orphanet:228384/attributed", source="Orphanet:228384/ntbt"} xref: Orphanet:228384 {source="MONDO:equivalentTo"} xref: SCTID:719661007 {source="MONDO:equivalentTo"} @@ -323378,7 +335425,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016457 name: ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome def: "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." [Orphanet:228396] +subset: gard_rare {source="GARD:20593"} subset: ordo_malformation_syndrome {source="Orphanet:228396"} +xref: GARD:20593 {source="Orphanet:228396"} xref: ICD10CM:Q87.0 {source="Orphanet:228396/attributed", source="Orphanet:228396/ntbt", source="Orphanet:228396"} xref: Orphanet:228396 {source="MONDO:equivalentTo"} xref: UMLS:CN201421 {source="MONDO:equivalentTo"} @@ -323389,11 +335438,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016458 name: 8q12 microduplication syndrome def: "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." [Orphanet:228399] -subset: gard_rare {source="GARD:0012816"} +subset: gard_rare {source="GARD:12816"} subset: ordo_malformation_syndrome {source="Orphanet:228399"} synonym: "chromosome 8q12 microduplication syndrome" RELATED [GARD:0012816] synonym: "dup(8)(q12)" EXACT [Orphanet:228399] synonym: "trisomy 8q12" EXACT [Orphanet:228399] +xref: GARD:12816 {source="Orphanet:228399"} xref: Orphanet:228399 {source="MONDO:equivalentTo"} xref: SCTID:719684000 {source="MONDO:equivalentTo"} xref: UMLS:C4304504 {source="MONDO:equivalentTo"} @@ -323409,12 +335459,13 @@ id: MONDO:0016459 name: 2q23.1 microdeletion syndrome def: "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." [Orphanet:228402] comment: Editor note: TODO check ORDO xref to OMIM -subset: gard_rare {source="GARD:0010998"} +subset: gard_rare {source="GARD:10998"} subset: ordo_malformation_syndrome {source="Orphanet:228402"} synonym: "chromosome 2q23.1 microdeletion syndrome" RELATED [GARD:0010998] synonym: "Del(2)(q23.1)" EXACT [Orphanet:228402] synonym: "monosomy 2q23.1" EXACT [Orphanet:228402] synonym: "pseudo-Angelman syndrome" EXACT [Orphanet:228402] +xref: GARD:10998 {source="Orphanet:228402"} xref: ICD10CM:Q93.5 {source="Orphanet:228402", source="Orphanet:228402/attributed", source="Orphanet:228402/ntbt"} xref: Orphanet:228402 {source="MONDO:equivalentTo"} xref: SCTID:719657001 {source="MONDO:equivalentTo"} @@ -323433,8 +335484,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10998/2q231- id: MONDO:0016460 name: polyvalvular heart disease syndrome def: "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." [Orphanet:228410] +subset: gard_rare {source="GARD:20594"} subset: ordo_malformation_syndrome {source="Orphanet:228410"} synonym: "PHD syndrome" EXACT [Orphanet:228410] +xref: GARD:20594 {source="Orphanet:228410"} xref: ICD10CM:Q87.8 {source="Orphanet:228410/attributed", source="Orphanet:228410/ntbt", source="Orphanet:228410"} xref: Orphanet:228410 {source="MONDO:equivalentTo"} xref: SCTID:723448007 {source="MONDO:equivalentTo"} @@ -323448,9 +335501,11 @@ is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect du id: MONDO:0016461 name: 5q35 microduplication syndrome def: "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." [Orphanet:228415] +subset: gard_rare {source="GARD:20595"} subset: ordo_malformation_syndrome {source="Orphanet:228415"} synonym: "dup(5)(q35)" EXACT [Orphanet:228415] synonym: "trisomy 5q35" EXACT [Orphanet:228415] +xref: GARD:20595 {source="Orphanet:228415"} xref: Orphanet:228415 {source="MONDO:equivalentTo"} xref: SCTID:719665003 {source="MONDO:equivalentTo"} xref: UMLS:C4304526 {source="MONDO:equivalentTo"} @@ -323464,9 +335519,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016462 name: isolated agammaglobulinemia def: "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." [Orphanet:229717] +subset: gard_rare {source="GARD:17155"} subset: ordo_disease {source="Orphanet:229717"} synonym: "isolated hypogammaglobulinemia" EXACT [Orphanet:229717] synonym: "nonsyndromic agammaglobulinemia" EXACT [MONDO:patterns/isolated] +xref: GARD:17155 {source="Orphanet:229717"} xref: Orphanet:229717 {source="MONDO:equivalentTo"} xref: SCTID:764858009 {source="MONDO:equivalentTo"} xref: UMLS:C0001768 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:229717"} @@ -323481,11 +335538,13 @@ name: syndromic agammaglobulinemia def: "A agammaglobulinemia that is part of a larger syndrome." [MONDO:patterns/syndromic] comment: The NCIT class hypogammaglobulinemia is implicitly syndromic so we place here. subset: disease_grouping +subset: gard_rare {source="GARD:20596"} subset: ordo_group_of_disorders {source="Orphanet:229720"} synonym: "hypogammaglobulinemia" BROAD [NCIT:C26931] synonym: "syndrome associated with agammaglobulinemia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic agammaglobulinemia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hypogammaglobulinemia" EXACT [] +xref: GARD:20596 {source="Orphanet:229720"} xref: NCIT:C26931 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:229720 {source="MONDO:equivalentTo"} xref: UMLS:C0086438 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26931"} @@ -323499,9 +335558,10 @@ intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation id: MONDO:0016464 name: insulin-resistance syndrome type B def: "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." [Orphanet:2298] -subset: gard_rare +subset: gard_rare {source="GARD:3009"} subset: ordo_disease {source="Orphanet:2298"} synonym: "insulin-resistance type B" RELATED [GARD:0003009] +xref: GARD:3009 {source="Orphanet:2298"} xref: ICD10CM:E13 {source="Orphanet:2298", source="Orphanet:2298/attributed", source="Orphanet:2298/ntbt"} xref: Orphanet:2298 {source="GARD:0003009", source="MONDO:equivalentTo"} xref: UMLS:C0342337 {source="Orphanet:2298", source="GARD:0003009", source="MONDO:equivalentTo", source="Orphanet:2298/e"} @@ -323520,7 +335580,7 @@ replaced_by: MONDO:0009465 id: MONDO:0016466 name: asbestosis def: "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." [NCIT:C84573] -subset: gard_rare +subset: gard_rare {source="GARD:5852"} subset: ordo_disease {source="Orphanet:2302"} synonym: "asbestos dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] synonym: "asbestos intoxication" RELATED [Orphanet:2302] @@ -323533,6 +335593,7 @@ synonym: "pulmonary fibrosis - from asbestos exposure" RELATED [GARD:0005852] xref: CSP:2596-4484 {source="DOID:10320"} xref: DOID:10320 {source="MONDO:equivalentTo", source="EFO:0007153"} xref: EFO:0007153 {source="MONDO:equivalentTo"} +xref: GARD:5852 {source="Orphanet:2302"} xref: ICD10CM:J61 {source="Orphanet:2302/ntbt", source="Orphanet:2302", source="DOID:10320"} xref: ICD9:501 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10320"} xref: MESH:D001195 {source="MONDO:equivalentTo", source="EFO:0007153", source="DOID:10320"} @@ -323551,7 +335612,7 @@ intersection_of: realized_in_response_to_stimulus ENVO:02000106 ! asbestos dust id: MONDO:0016467 name: isotretinoin syndrome def: "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." [Orphanet:2305] -subset: gard_rare +subset: gard_rare {source="GARD:18765"} subset: ordo_malformation_syndrome {source="Orphanet:2305"} synonym: "Accutane fetal effects of" RELATED [GARD:0000517] synonym: "Accutane foetal effects of" RELATED OMO:0003005 [] @@ -323568,6 +335629,7 @@ synonym: "Isotretinoin foetal effects of" RELATED OMO:0003005 [] synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517] synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305] synonym: "Retinoids embryopathy" EXACT [Orphanet:2305] +xref: GARD:18765 {source="Orphanet:2305"} xref: ICD10CM:Q86.8 {source="Orphanet:2305", source="Orphanet:2305/ntbt"} xref: MESH:C535670 {source="MONDO:equivalentTo"} xref: NCIT:C98929 {source="MONDO:equivalentTo"} @@ -323584,8 +335646,10 @@ relationship: realized_in_response_to_stimulus CHEBI:6067 ! isotretinoin id: MONDO:0016468 name: toxin-mediated infectious botulism def: "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." [Orphanet:230800] +subset: gard_rare {source="GARD:20597"} subset: ordo_clinical_subtype {source="Orphanet:230800"} synonym: "toxin-mediated infective botulism" EXACT [Orphanet:230800] +xref: GARD:20597 {source="Orphanet:230800"} xref: ICD10CM:A05.1 {source="Orphanet:230800", source="Orphanet:230800/ntbt"} xref: Orphanet:230800 {source="MONDO:equivalentTo"} is_a: MONDO:0005498 {source="Orphanet:230800"} ! botulism @@ -323608,8 +335672,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare id: MONDO:0016470 name: Ehlers-Danlos/osteogenesis imperfecta syndrome def: "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." [Orphanet:230857] +subset: gard_rare {source="GARD:17156"} subset: ordo_disease {source="Orphanet:230857"} synonym: "EDS/OI syndrome" EXACT [Orphanet:230857] +xref: GARD:17156 {source="Orphanet:230857"} xref: ICD10CM:Q79.6 {source="Orphanet:230857/attributed", source="Orphanet:230857/ntbt", source="Orphanet:230857"} xref: MESH:C565178 {source="MONDO:equivalentTo"} xref: OMIMPS:619115 {source="MONDO:equivalentTo"} @@ -323625,7 +335691,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619115"} ! inheri id: MONDO:0016471 name: pachyonychia congenita def: "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." [Orphanet:2309] -subset: gard_rare {source="GARD:0010753"} +subset: gard_rare {source="GARD:10753"} subset: ordo_disease {source="Orphanet:2309"} synonym: "congenital pachyonychia" RELATED [GARD:0010753] synonym: "Jackson-Lawler type pachyonychia congenita" EXACT [DOID:0050449] @@ -323635,6 +335701,7 @@ synonym: "pachyonychia congenita type 1" NARROW [DOID:0050449] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [DOID:0050449] synonym: "PC" EXACT ABBREVIATION [Orphanet:2309] xref: DOID:0050449 {source="MONDO:equivalentTo"} +xref: GARD:10753 {source="Orphanet:2309"} xref: ICD10CM:Q84.5 {source="Orphanet:2309/attributed", source="Orphanet:2309/ntbt", source="Orphanet:2309"} xref: MESH:D053549 {source="Orphanet:2309/e", source="MONDO:equivalentTo", source="DOID:0050449", source="Orphanet:2309"} xref: NCIT:C84986 {source="MONDO:equivalentTo", source="DOID:0050449"} @@ -323653,7 +335720,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10753/pachyo id: MONDO:0016472 name: dracunculiasis def: "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." [Orphanet:231] -subset: gard_rare {source="GARD:0006286"} +subset: gard_rare {source="GARD:6286"} subset: ordo_disease {source="Orphanet:231"} synonym: "dracontiasis" EXACT [DOID:14418, ICD9CM:125.7] synonym: "Dracunculosis" EXACT [Orphanet:231] @@ -323669,6 +335736,7 @@ synonym: "medinensis" EXACT [Orphanet:231] synonym: "parasitic infection caused by Dracunculus medinensis" RELATED [GARD:0006286] xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"} xref: EFO:0007241 {source="MONDO:equivalentTo"} +xref: GARD:6286 {source="Orphanet:231"} xref: ICD10CM:B72 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013618 {source="Orphanet:231/e", source="Orphanet:231"} @@ -323690,6 +335758,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6286/dracunc id: MONDO:0016473 name: familial rhabdoid tumor def: "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." [NCIT:C93268] +subset: gard_rare {source="GARD:17159"} subset: ordo_clinical_subtype {source="Orphanet:231108"} synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [NCIT:C93268] synonym: "familial posterior fossa brain tumour syndrome of infancy" EXACT OMO:0003005 [] @@ -323700,6 +335769,7 @@ synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268] synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108] synonym: "rhabdoid tumour predisposition syndrome" EXACT OMO:0003005 [] synonym: "RTPS" EXACT ABBREVIATION [Orphanet:231108] +xref: GARD:17159 {source="Orphanet:231108"} xref: ICD10CM:C49.9 {source="Orphanet:231108", source="Orphanet:231108/attributed", source="Orphanet:231108/ntbt"} xref: NCIT:C93268 {source="MONDO:equivalentTo"} xref: OMIMPS:609322 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -323717,6 +335787,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609322"} ! inheri id: MONDO:0016474 name: drug-induced lupus erythematosus def: "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." [NCIT:C114354] +subset: gard_rare {source="GARD:20599"} subset: ordo_disease {source="Orphanet:231111"} synonym: "DIL" BROAD ABBREVIATION [DOID:0040093] synonym: "DILE" EXACT ABBREVIATION [DOID:0040093, Orphanet:231111] @@ -323724,6 +335795,7 @@ synonym: "drug induced lupus" EXACT [NCIT:C114354] synonym: "drug induced lupus erythematosus" EXACT [NCIT:C114354] synonym: "drug-induced lupus" EXACT [NCIT:C114354] xref: DOID:0040093 {source="MONDO:equivalentTo"} +xref: GARD:20599 {source="Orphanet:231111"} xref: ICD10CM:M32.0 {source="Orphanet:231111", source="DOID:0040093", source="Orphanet:231111/e"} xref: MedDRA:10013706 {source="Orphanet:231111", source="Orphanet:231111/e"} xref: NCIT:C114354 {source="MONDO:equivalentTo"} @@ -323738,8 +335810,10 @@ intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug [Term] id: MONDO:0016475 name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 +subset: gard_rare {source="GARD:20600"} subset: ordo_etiological_subtype {source="Orphanet:231117"} synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231117] +xref: GARD:20600 {source="Orphanet:231117"} xref: ICD10CM:Q87.3 {source="Orphanet:231117", source="Orphanet:231117/attributed", source="Orphanet:231117/ntbt"} xref: Orphanet:231117 {source="MONDO:equivalentTo"} xref: UMLS:CN201470 {source="MONDO:equivalentTo"} @@ -323748,7 +335822,9 @@ is_a: MONDO:0007534 {source="Orphanet:231117"} ! Beckwith-Wiedemann syndrome [Term] id: MONDO:0016476 name: Beckwith-Wiedemann syndrome due to CDKN1C mutation +subset: gard_rare {source="GARD:17160"} subset: ordo_etiological_subtype {source="Orphanet:231120"} +xref: GARD:17160 {source="Orphanet:231120"} xref: ICD10CM:Q87.3 {source="Orphanet:231120", source="Orphanet:231120/attributed", source="Orphanet:231120/ntbt"} xref: Orphanet:231120 {source="MONDO:equivalentTo"} xref: UMLS:CN201471 {source="MONDO:equivalentTo"} @@ -323758,7 +335834,9 @@ property_value: confidence "1.0" xsd:double [Term] id: MONDO:0016477 name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion +subset: gard_rare {source="GARD:20601"} subset: ordo_etiological_subtype {source="Orphanet:231127"} +xref: GARD:20601 {source="Orphanet:231127"} xref: ICD10CM:Q87.3 {source="Orphanet:231127", source="Orphanet:231127/attributed", source="Orphanet:231127/ntbt"} xref: Orphanet:231127 {source="MONDO:equivalentTo"} xref: UMLS:CN201472 {source="MONDO:equivalentTo"} @@ -323771,7 +335849,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016478 name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion +subset: gard_rare {source="GARD:20602"} subset: ordo_etiological_subtype {source="Orphanet:231130"} +xref: GARD:20602 {source="Orphanet:231130"} xref: ICD10CM:Q87.3 {source="Orphanet:231130", source="Orphanet:231130/attributed", source="Orphanet:231130/ntbt"} xref: Orphanet:231130 {source="MONDO:equivalentTo"} xref: UMLS:CN201473 {source="MONDO:equivalentTo"} @@ -323780,11 +335860,13 @@ is_a: MONDO:0007534 {source="Orphanet:231130"} ! Beckwith-Wiedemann syndrome [Term] id: MONDO:0016479 name: silver-Russell syndrome due to 7p11.2p13 microduplication +subset: gard_rare {source="GARD:20603"} subset: ordo_etiological_subtype {source="Orphanet:231137"} synonym: "Silver-Russell syndrome due to 7p11.2-p13 microduplication" EXACT [Orphanet:231137] synonym: "Silver-Russell syndrome due to dup(7)(p11.2p13)" EXACT [Orphanet:231137] synonym: "Silver-Russell syndrome due to trisomy 7p11.2-p13" EXACT [Orphanet:231137] synonym: "Silver-Russell syndrome due to trisomy 7p11.2p13" EXACT [Orphanet:231137] +xref: GARD:20603 {source="Orphanet:231137"} xref: ICD10CM:Q87.1 {source="Orphanet:231137", source="Orphanet:231137/attributed", source="Orphanet:231137/ntbt"} xref: Orphanet:231137 {source="MONDO:equivalentTo"} xref: UMLS:CN201474 {source="MONDO:equivalentTo"} @@ -323797,8 +335879,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016480 name: silver-Russell syndrome due to an imprinting defect of 11p15 +subset: gard_rare {source="GARD:20604"} subset: ordo_etiological_subtype {source="Orphanet:231140"} synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231140] +xref: GARD:20604 {source="Orphanet:231140"} xref: ICD10CM:Q87.1 {source="Orphanet:231140/attributed", source="Orphanet:231140/ntbt", source="Orphanet:231140"} xref: Orphanet:231140 {source="MONDO:equivalentTo"} xref: UMLS:CN201475 {source="MONDO:equivalentTo"} @@ -323807,7 +335891,9 @@ is_a: MONDO:0008394 {source="Orphanet:231140"} ! Silver-Russell syndrome [Term] id: MONDO:0016481 name: silver-Russell syndrome due to 11p15 microduplication +subset: gard_rare {source="GARD:20605"} subset: ordo_etiological_subtype {source="Orphanet:231144"} +xref: GARD:20605 {source="Orphanet:231144"} xref: ICD10CM:Q87.1 {source="Orphanet:231144", source="Orphanet:231144/attributed", source="Orphanet:231144/ntbt"} xref: Orphanet:231144 {source="MONDO:equivalentTo"} xref: UMLS:CN201476 {source="MONDO:equivalentTo"} @@ -323820,9 +335906,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016482 name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 +subset: gard_rare {source="GARD:20606"} subset: ordo_etiological_subtype {source="Orphanet:231147"} synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:231147] synonym: "UPD(11)mat" EXACT [Orphanet:231147] +xref: GARD:20606 {source="Orphanet:231147"} xref: ICD10CM:Q87.1 {source="Orphanet:231147", source="Orphanet:231147/attributed", source="Orphanet:231147/ntbt"} xref: Orphanet:231147 {source="MONDO:equivalentTo"} xref: UMLS:CN201477 {source="MONDO:equivalentTo"} @@ -323834,6 +335922,7 @@ relationship: disease_arises_from_structure CHR:9606-chr11 {source="https://orci id: MONDO:0016483 name: intracranial berry aneurysm def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [DOID:0060228, http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, http://radiopaedia.org/articles/saccular-cerebral-aneurysm, http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/] +subset: gard_rare {source="GARD:17161"} subset: ordo_disease {source="Orphanet:231160"} synonym: "aneurysm, intracranial berry" EXACT [OMIMPS:105800] synonym: "familial aneurysmal subarachnoid haemorrhage" EXACT OMO:0003005 [] @@ -323843,6 +335932,7 @@ synonym: "familial cerebral saccular aneurysm" RELATED [Orphanet:231160] synonym: "familial intracranial saccular aneurysm" EXACT [DOID:0060228, Orphanet:231160] synonym: "saccular cerebral aneurysm" EXACT [DOID:0060228] xref: DOID:0060228 {source="MONDO:equivalentTo"} +xref: GARD:17161 {source="Orphanet:231160"} xref: HP:0007029 {source="MONDO:otherHierarchy", source="DOID:0060228"} xref: ICD10CM:I60.7 {source="DOID:0060228"} xref: ICD10CM:I67.1 {source="Orphanet:231160/attributed", source="Orphanet:231160/ntbt", source="Orphanet:231160"} @@ -323858,10 +335948,12 @@ id: MONDO:0016484 name: Usher syndrome type 2 def: "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." [NCIT:C126328] subset: clingen +subset: gard_rare {source="GARD:5440"} subset: ordo_clinical_subtype {source="Orphanet:231178"} synonym: "USH2" EXACT ABBREVIATION [DOID:0110827, Orphanet:231178] synonym: "Usher syndrome type 2" EXACT CLINGEN_PREFERRED [] xref: DOID:0110827 {source="MONDO:equivalentTo"} +xref: GARD:5440 {source="Orphanet:231178"} xref: ICD10CM:H35.5 {source="Orphanet:231178/attributed", source="Orphanet:231178/ntbt", source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827"} xref: NCIT:C126328 {source="MONDO:equivalentTo"} xref: Orphanet:231178 {source="MONDO:equivalentTo", source="DOID:0110827"} @@ -323875,10 +335967,12 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:231178"} ! Autosom id: MONDO:0016485 name: Usher syndrome type 3 def: "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." [NCIT:C126329] +subset: gard_rare {source="GARD:5442"} subset: ordo_clinical_subtype {source="Orphanet:231183"} synonym: "USH3" EXACT ABBREVIATION [DOID:0110828, Orphanet:231183] synonym: "Usher syndrome type 3" EXACT CLINGEN_PREFERRED [] xref: DOID:0110828 {source="MONDO:equivalentTo"} +xref: GARD:5442 {source="Orphanet:231183"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231183/attributed", source="Orphanet:231183/ntbt", source="DOID:0110828", source="Orphanet:231183"} xref: NCIT:C126329 {source="MONDO:equivalentTo"} xref: Orphanet:231183 {source="MONDO:equivalentTo", source="DOID:0110828"} @@ -323890,6 +335984,7 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:231183"} ! Autosom id: MONDO:0016486 name: beta-thalassemia major def: "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." [Orphanet:231214] +subset: gard_rare {source="GARD:17162"} subset: ordo_clinical_subtype {source="Orphanet:231214"} synonym: "Beta thalassemia Major" EXACT [NCIT:C129699] synonym: "Cooley anaemia" EXACT OMO:0003005 [] @@ -323899,6 +335994,7 @@ synonym: "Cooley's Anemia" EXACT [NCIT:C129699] synonym: "Mediterranean anaemia" EXACT OMO:0003005 [] synonym: "Mediterranean anemia" EXACT [Orphanet:231214] xref: DOID:0080771 {source="MONDO:equivalentTo"} +xref: GARD:17162 {source="Orphanet:231214"} xref: ICD10CM:D56.1 {source="Orphanet:231214", source="Orphanet:231214/attributed", source="Orphanet:231214/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129699 {source="MONDO:equivalentTo"} @@ -323913,8 +336009,10 @@ property_value: confidence "4.714285714285714" xsd:double id: MONDO:0016487 name: beta-thalassemia intermedia def: "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." [Orphanet:231222] +subset: gard_rare {source="GARD:17163"} subset: ordo_clinical_subtype {source="Orphanet:231222"} xref: DOID:0080772 {source="MONDO:equivalentTo"} +xref: GARD:17163 {source="Orphanet:231222"} xref: ICD10CM:D56.1 {source="Orphanet:231222/attributed", source="Orphanet:231222/ntbt", source="Orphanet:231222"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062923 {source="Orphanet:231222", source="Orphanet:231222/e"} @@ -323929,8 +336027,10 @@ id: MONDO:0016488 name: obsolete beta-thalassemia associated with another hemoglobin anomaly def: "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." [Orphanet:231230] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' +subset: gard_rare {source="GARD:20607"} subset: ordo_group_of_disorders {source="Orphanet:231230"} synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230] +xref: GARD:20607 {source="Orphanet:231230", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D58.2 {source="Orphanet:231230", source="Orphanet:231230/attributed", source="Orphanet:231230/ntbt"} xref: Orphanet:231230 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -323942,8 +336042,10 @@ consider: MONDO:0017145 id: MONDO:0016489 name: delta-beta-thalassemia def: "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [Orphanet:231237] +subset: gard_rare {source="GARD:17165"} subset: ordo_disease {source="Orphanet:231237"} xref: DOID:0080773 {source="MONDO:equivalentTo"} +xref: GARD:17165 {source="Orphanet:231237"} xref: ICD10CM:D56.2 {source="MONDO:equivalentTo", source="Orphanet:231237/specific", source="Orphanet:231237", source="Orphanet:231237/e"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10012236 {source="Orphanet:231237", source="Orphanet:231237/e"} @@ -323959,9 +336061,11 @@ is_a: MONDO:0017145 {source="Orphanet:231237"} ! beta-thalassemia and related di id: MONDO:0016490 name: hemoglobin C-beta-thalassemia syndrome def: "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." [Orphanet:231242] +subset: gard_rare {source="GARD:20608"} subset: ordo_disease {source="Orphanet:231242"} synonym: "C-beta-thalassemia" EXACT [Orphanet:231242] synonym: "HBC-beta-thalassemia syndrome" EXACT [Orphanet:231242] +xref: GARD:20608 {source="Orphanet:231242"} xref: ICD10CM:D58.2 {source="Orphanet:231242/attributed", source="Orphanet:231242/ntbt", source="Orphanet:231242"} xref: Orphanet:231242 {source="MONDO:equivalentTo"} xref: UMLS:CN201488 {source="MONDO:equivalentTo"} @@ -323971,9 +336075,11 @@ is_a: MONDO:0017145 {source="Orphanet:231242"} ! beta-thalassemia and related di id: MONDO:0016491 name: hemoglobin E-beta-thalassemia syndrome def: "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." [Orphanet:231249] +subset: gard_rare {source="GARD:20609"} subset: ordo_disease {source="Orphanet:231249"} synonym: "E-beta-thalassemia" EXACT [Orphanet:231249] synonym: "HbE-beta-thalassemia syndrome" EXACT [Orphanet:231249] +xref: GARD:20609 {source="Orphanet:231249"} xref: ICD10CM:D58.2 {source="Orphanet:231249", source="Orphanet:231249/attributed", source="Orphanet:231249/ntbt"} xref: Orphanet:231249 {source="MONDO:equivalentTo"} xref: UMLS:C0472777 {source="MONDO:equivalentTo", source="Orphanet:231249", source="Orphanet:231249/e"} @@ -323984,7 +336090,9 @@ id: MONDO:0016492 name: obsolete beta-thalassemia with other manifestations def: "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." [Orphanet:231386] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' +subset: gard_rare {source="GARD:20610"} subset: ordo_group_of_disorders {source="Orphanet:231386"} +xref: GARD:20610 {source="Orphanet:231386", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D58.2 {source="Orphanet:231386", source="Orphanet:231386/attributed", source="Orphanet:231386/ntbt"} xref: Orphanet:231386 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -323995,8 +336103,10 @@ consider: MONDO:0017145 [Term] id: MONDO:0016493 name: obsolete variant of Guillain-Barre syndrome +subset: gard_rare {source="GARD:20611"} synonym: "variant of GBS" EXACT [Orphanet:231413] synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413] +xref: GARD:20611 {source="MONDO:obsoleteEquivalent", source="Orphanet:231413"} xref: ICD10CM:G61.0 {source="Orphanet:231413", source="Orphanet:231413/ntbt"} xref: Orphanet:231413 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201495 {source="MONDO:obsoleteEquivalent"} @@ -324010,8 +336120,10 @@ is_obsolete: true [Term] id: MONDO:0016494 name: obsolete regional variant of Guillain-Barre syndrome +subset: gard_rare {source="GARD:20612"} synonym: "regional variant of GBS" EXACT [Orphanet:231416] synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416] +xref: GARD:20612 {source="MONDO:obsoleteEquivalent", source="Orphanet:231416"} xref: ICD10CM:G61.0 {source="Orphanet:231416", source="Orphanet:231416/ntbt"} xref: Orphanet:231416 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201496 {source="MONDO:obsoleteEquivalent"} @@ -324025,8 +336137,10 @@ is_obsolete: true [Term] id: MONDO:0016495 name: obsolete functional variant of Guillain-Barre syndrome +subset: gard_rare {source="GARD:20613"} synonym: "functional variant of GBS" EXACT [Orphanet:231419] synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419] +xref: GARD:20613 {source="MONDO:obsoleteEquivalent", source="Orphanet:231419"} xref: ICD10CM:G61.0 {source="Orphanet:231419/ntbt", source="Orphanet:231419"} xref: Orphanet:231419 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201497 {source="MONDO:obsoleteEquivalent"} @@ -324040,6 +336154,7 @@ is_obsolete: true [Term] id: MONDO:0016496 name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome +subset: gard_rare {source="GARD:20614"} subset: ordo_disease {source="Orphanet:231426"} synonym: "PCB variant of GBS" EXACT [Orphanet:231426] synonym: "PCB variant of Guillain-Barre syndrome" EXACT [Orphanet:231426] @@ -324049,6 +336164,7 @@ synonym: "pharyngeal-cervical-brachial weakness" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of GBS" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of Guillain-Barre syndrome" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of Guillain-Barré syndrome" EXACT [Orphanet:231426] +xref: GARD:20614 {source="Orphanet:231426"} xref: ICD10CM:G61.0 {source="Orphanet:231426/ntbt", source="Orphanet:231426"} xref: Orphanet:231426 {source="MONDO:equivalentTo"} xref: UMLS:CN201499 {source="MONDO:equivalentTo"} @@ -324061,9 +336177,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016497 name: paraparetic variant of Guillain-Barre syndrome def: "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." [Orphanet:231445] +subset: gard_rare {source="GARD:20615"} subset: ordo_disease {source="Orphanet:231445"} synonym: "paraparetic variant of GBS" EXACT [Orphanet:231445] synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [Orphanet:231445] +xref: GARD:20615 {source="Orphanet:231445"} xref: ICD10CM:G61.0 {source="Orphanet:231445", source="Orphanet:231445/ntbt"} xref: Orphanet:231445 {source="MONDO:equivalentTo"} xref: UMLS:CN201500 {source="MONDO:equivalentTo"} @@ -324075,10 +336193,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016498 name: acute pure sensory neuropathy +subset: gard_rare {source="GARD:20616"} subset: ordo_disease {source="Orphanet:231450"} synonym: "acute pure sensory GBS" EXACT [Orphanet:231450] synonym: "acute pure sensory Guillain-Barre syndrome" EXACT [Orphanet:231450] synonym: "acute pure sensory Guillain-Barré syndrome" EXACT [Orphanet:231450] +xref: GARD:20616 {source="Orphanet:231450"} xref: ICD10CM:G61.0 {source="Orphanet:231450", source="Orphanet:231450/ntbt"} xref: Orphanet:231450 {source="MONDO:equivalentTo"} xref: UMLS:CN201501 {source="MONDO:equivalentTo"} @@ -324091,11 +336211,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016499 name: acute pandysautonomia def: "Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating." [Orphanet:231457] +subset: gard_rare {source="GARD:20617"} subset: ordo_disease {source="Orphanet:231457"} synonym: "acute panautonomic GBS" EXACT [Orphanet:231457] synonym: "acute panautonomic Guillain-Barre syndrome" EXACT [Orphanet:231457] synonym: "acute panautonomic Guillain-Barré syndrome" EXACT [Orphanet:231457] synonym: "acute panautonomic neuropathy" EXACT [Orphanet:231457] +xref: GARD:20617 {source="Orphanet:231457"} xref: ICD10CM:G61.0 {source="Orphanet:231457", source="Orphanet:231457/ntbt"} xref: Orphanet:231457 {source="MONDO:equivalentTo"} xref: SCTID:430042004 {source="MONDO:equivalentTo"} @@ -324110,11 +336232,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016500 name: acute sensory ataxic neuropathy def: "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." [Orphanet:231466] +subset: gard_rare {source="GARD:20618"} subset: ordo_disease {source="Orphanet:231466"} synonym: "acute sensory ataxic GBS" EXACT [Orphanet:231466] synonym: "acute sensory ataxic Guillain-Barre syndrome" EXACT [Orphanet:231466] synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466] synonym: "ASAN" EXACT ABBREVIATION [Orphanet:231466] +xref: GARD:20618 {source="Orphanet:231466"} xref: ICD10CM:G61.0 {source="Orphanet:231466", source="Orphanet:231466/ntbt"} xref: Orphanet:231466 {source="MONDO:equivalentTo"} xref: SCTID:766049000 {source="MONDO:equivalentTo"} @@ -324129,8 +336253,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016501 name: Hermansky-Pudlak syndrome with pulmonary fibrosis def: "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." [Orphanet:231500] +subset: gard_rare {source="GARD:17168"} subset: ordo_clinical_subtype {source="Orphanet:231500"} synonym: "HPS with pulmonary fibrosis" EXACT [Orphanet:231500] +xref: GARD:17168 {source="Orphanet:231500"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231500", source="Orphanet:231500/attributed", source="Orphanet:231500/ntbt"} xref: Orphanet:231500 {source="MONDO:equivalentTo"} xref: UMLS:CN201506 {source="MONDO:equivalentTo"} @@ -324141,8 +336267,10 @@ is_a: MONDO:0019312 {source="Orphanet:231500"} ! Hermansky-Pudlak syndrome id: MONDO:0016502 name: Hermansky-Pudlak syndrome without pulmonary fibrosis def: "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." [Orphanet:231512] +subset: gard_rare {source="GARD:17169"} subset: ordo_clinical_subtype {source="Orphanet:231512"} synonym: "HPS without pulmonary fibrosis" EXACT [Orphanet:231512] +xref: GARD:17169 {source="Orphanet:231512"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231512", source="Orphanet:231512/attributed", source="Orphanet:231512/ntbt"} xref: Orphanet:231512 {source="MONDO:equivalentTo"} xref: UMLS:CN201507 {source="MONDO:equivalentTo"} @@ -324151,9 +336279,11 @@ is_a: MONDO:0019312 {source="Orphanet:231512"} ! Hermansky-Pudlak syndrome [Term] id: MONDO:0016503 name: congenital erosive and vesicular dermatosis +subset: gard_rare {source="GARD:20619"} subset: ordo_disease {source="Orphanet:231573"} synonym: "CEVD" EXACT ABBREVIATION [Orphanet:231573] synonym: "congenital erosive and vesicular dermatosis with reticulated supple scarring" EXACT [Orphanet:231573] +xref: GARD:20619 {source="Orphanet:231573"} xref: Orphanet:231573 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -324163,8 +336293,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016504 name: primary unilateral adrenal hyperplasia def: "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." [Orphanet:231580] +subset: gard_rare {source="GARD:20620"} subset: ordo_disease {source="Orphanet:231580"} synonym: "PUAH" EXACT ABBREVIATION [Orphanet:231580] +xref: GARD:20620 {source="Orphanet:231580"} xref: ICD10CM:E26.0 {source="Orphanet:231580/ntbt", source="Orphanet:231580"} xref: Orphanet:231580 {source="MONDO:equivalentTo"} xref: SCTID:715868005 {source="MONDO:equivalentTo"} @@ -324175,6 +336307,7 @@ is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism id: MONDO:0016505 name: aldosterone-producing adrenal cortex adenoma def: "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." [NCIT:C48451] +subset: gard_rare {source="GARD:20621"} subset: ordo_disease {source="Orphanet:231625"} synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [Orphanet:231625] synonym: "aldosterone producing adrenal cortex adenoma" EXACT [NCIT:C48451] @@ -324185,6 +336318,7 @@ synonym: "Pure aldosterone-producing adrenocortical carcinoma" EXACT [Orphanet:2 synonym: "Pure aldosterone-secreting adrenocortical carcinoma" EXACT [Orphanet:231625] synonym: "Pure APAC" EXACT [Orphanet:231625] xref: EFO:1000015 {source="MONDO:equivalentTo"} +xref: GARD:20621 {source="Orphanet:231625"} xref: ICD10CM:C74.0 {source="Orphanet:231625", source="Orphanet:231625/ntbt"} xref: ICD10CM:E26.0 {source="EFO:1000015"} xref: MedDRA:10056950 {source="EFO:1000015"} @@ -324202,9 +336336,11 @@ is_a: MONDO:0004972 {source="EFO:1000015", source="NCIT:C48451/inferred"} ! aden id: MONDO:0016506 name: ectopic aldosterone-producing tumor def: "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." [Orphanet:231632] +subset: gard_rare {source="GARD:20622"} subset: ordo_disease {source="Orphanet:231632"} synonym: "Extra-adrenal aldosterone-producing tumor" EXACT [Orphanet:231632] synonym: "Extra-adrenal aldosterone-producing tumour" EXACT OMO:0003005 [] +xref: GARD:20622 {source="Orphanet:231632"} xref: ICD10CM:E26.8 {source="Orphanet:231632", source="Orphanet:231632/ntbt"} xref: Orphanet:231632 {source="MONDO:equivalentTo"} xref: UMLS:CN201515 {source="MONDO:equivalentTo"} @@ -324215,7 +336351,9 @@ id: MONDO:0016507 name: obsolete rare surgically correctable form of primary aldosteronism def: "OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." [Orphanet:231637] subset: disease_grouping +subset: gard_rare {source="GARD:20623"} subset: ordo_group_of_disorders {source="Orphanet:231637"} +xref: GARD:20623 {source="MONDO:obsoleteEquivalent", source="Orphanet:231637"} xref: Orphanet:231637 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226946 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -324227,7 +336365,9 @@ is_obsolete: true id: MONDO:0016508 name: obsolete rare non surgically correctable form of primary aldosteronism subset: disease_grouping +subset: gard_rare {source="GARD:20624"} subset: ordo_group_of_disorders {source="Orphanet:231641"} +xref: GARD:20624 {source="MONDO:obsoleteEquivalent", source="Orphanet:231641"} xref: Orphanet:231641 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226947 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -324238,10 +336378,12 @@ is_obsolete: true [Term] id: MONDO:0016509 name: microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome +subset: gard_rare {source="GARD:10938"} subset: ordo_malformation_syndrome {source="Orphanet:231736"} synonym: "microcornea posterior megalolenticonus persistent fetal vasculature coloboma" RELATED [GARD:0010938] synonym: "microcornea posterior megalolenticonus persistent foetal vasculature coloboma" RELATED OMO:0003005 [] synonym: "MPPC syndrome" EXACT [Orphanet:231736] +xref: GARD:10938 {source="Orphanet:231736"} xref: ICD10CM:Q15.8 {source="Orphanet:231736/ntbt", source="Orphanet:231736"} xref: Orphanet:231736 {source="MONDO:equivalentTo"} xref: UMLS:CN201521 {source="MONDO:equivalentTo"} @@ -324252,7 +336394,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016510 name: epibulbar lipodermoid-preauricular appendage-polythelia syndrome def: "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." [Orphanet:231742] +subset: gard_rare {source="GARD:20625"} subset: ordo_malformation_syndrome {source="Orphanet:231742"} +xref: GARD:20625 {source="Orphanet:231742"} xref: Orphanet:231742 {source="MONDO:equivalentTo"} xref: UMLS:CN226948 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:231742", source="Orphanet:231742/inferred"} ! disorder of development or morphogenesis @@ -324262,7 +336406,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0016511 name: infectious embryofetopathy subset: disease_grouping +subset: gard_rare {source="GARD:20626"} subset: ordo_group_of_disorders {source="Orphanet:232035"} +xref: GARD:20626 {source="Orphanet:232035"} xref: Orphanet:232035 {source="MONDO:equivalentTo"} is_a: MONDO:0005550 {source="Orphanet:232035"} ! infectious disease is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect during embryogenesis @@ -324272,6 +336418,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019062"} ! rare id: MONDO:0016512 name: Kabuki syndrome def: "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." [Orphanet:2322] +subset: gard_rare {source="GARD:6810"} subset: ordo_malformation_syndrome {source="Orphanet:2322"} synonym: "Kabuki make up syndrome" EXACT [DOID:0060473] synonym: "Kabuki make-up syndrome" EXACT [Orphanet:2322] @@ -324279,6 +336426,7 @@ synonym: "KMS" EXACT ABBREVIATION [DOID:0060473] synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, Orphanet:2322] synonym: "NKS" RELATED ABBREVIATION [GARD:0006810] xref: DOID:0060473 {source="MONDO:equivalentTo"} +xref: GARD:6810 {source="Orphanet:2322"} xref: ICD10CM:Q87.0 {source="Orphanet:2322", source="Orphanet:2322/attributed", source="Orphanet:2322/ntbt"} xref: MedDRA:10063935 {source="Orphanet:2322", source="Orphanet:2322/e"} xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:equivalentTo", source="Orphanet:2322/e"} @@ -324303,6 +336451,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016513 name: obsolete alpha-thalassemia-related diseases def: "OBSOLETE. This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" [Orphanet:232288] +subset: gard_rare {source="GARD:20627"} +xref: GARD:20627 {source="Orphanet:232288", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D56.0 {source="Orphanet:232288", source="Orphanet:232288/attributed", source="Orphanet:232288/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:232288 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201534 {source="MONDO:obsoleteEquivalent"} @@ -324314,9 +336464,11 @@ is_obsolete: true [Term] id: MONDO:0016514 name: epidermolysis bullosa simplex with anodontia/hypodontia +subset: gard_rare {source="GARD:18766"} subset: ordo_malformation_syndrome {source="Orphanet:2325"} synonym: "Gamborg-Nielsen syndrome" EXACT [Orphanet:2325] synonym: "Kallin syndrome" EXACT [Orphanet:2325] +xref: GARD:18766 {source="Orphanet:2325"} xref: ICD10CM:Q81.0 {source="Orphanet:2325", source="Orphanet:2325/attributed", source="Orphanet:2325/ntbt"} xref: Orphanet:2325 {source="MONDO:equivalentTo"} xref: UMLS:C0432313 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2325", source="Orphanet:2325/e"} @@ -324326,7 +336478,9 @@ is_a: MONDO:0017610 {source="Orphanet:2325"} ! epidermolysis bullosa simplex id: MONDO:0016515 name: Kallmann syndrome-heart disease syndrome def: "Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." [Orphanet:2326] +subset: gard_rare {source="GARD:18767"} subset: ordo_malformation_syndrome {source="Orphanet:2326"} +xref: GARD:18767 {source="Orphanet:2326"} xref: ICD10CM:Q24.8 {source="Orphanet:2326", source="Orphanet:2326/attributed", source="Orphanet:2326/ntbt"} xref: Orphanet:2326 {source="MONDO:equivalentTo"} xref: UMLS:CN201538 {source="MONDO:equivalentTo"} @@ -324339,9 +336493,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0016516 name: Kenny-Caffey syndrome def: "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." [NCIT:C130991] +subset: gard_rare {source="GARD:16594"} subset: ordo_malformation_syndrome {source="Orphanet:2333"} synonym: "Kenny syndrome" EXACT [Orphanet:2333] xref: DOID:0080724 {source="MONDO:equivalentTo"} +xref: GARD:16594 {source="Orphanet:2333"} xref: ICD10CM:Q87.1 {source="Orphanet:2333", source="Orphanet:2333/attributed", source="Orphanet:2333/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537020 {source="Orphanet:2333", source="MONDO:equivalentTo", source="Orphanet:2333/e"} @@ -324362,8 +336518,10 @@ id: MONDO:0016517 name: obsolete rare genetic vascular disease def: "OBSOLETE. Rare genetic vascular disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:20628"} subset: ordo_group_of_disorders {source="Orphanet:233655"} synonym: "rare genetic vascular disease" EXACT [] +xref: GARD:20628 {source="MONDO:obsoleteEquivalent", source="Orphanet:233655"} xref: Orphanet:233655 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201558 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -324374,9 +336532,11 @@ replaced_by: MONDO:0005385 id: MONDO:0016518 name: obsolete isolated punctate palmoplantar keratoderma def: "OBSOLETE. A punctate palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:18768"} synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338] synonym: "isolated punctate PPK" EXACT [Orphanet:2338] synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] +xref: GARD:18768 {source="MONDO:obsoleteEquivalent", source="Orphanet:2338"} xref: ICD10CM:Q82.8 {source="Orphanet:2338", source="Orphanet:2338/attributed", source="Orphanet:2338/ntbt"} xref: Orphanet:2338 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1274216 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2338", source="Orphanet:2338/e"} @@ -324397,11 +336557,13 @@ replaced_by: MONDO:0000136 id: MONDO:0016520 name: obsolete isolated Klippel-Feil syndrome def: "OBSOLETE. Klippel-Feil Syndrome is characterized by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." [Orphanet:2345] +subset: gard_rare {source="GARD:10280"} synonym: "congenital cervical vertebral fusion" EXACT [Orphanet:2345] synonym: "congenital fused cervical segments" EXACT [Orphanet:2345] synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345] synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345] synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated] +xref: GARD:10280 {source="MONDO:obsoleteEquivalent", source="Orphanet:2345"} xref: ICD10CM:Q76.1 {source="Orphanet:2345", source="Orphanet:2345/specific", source="Orphanet:2345/e"} xref: Orphanet:2345 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0022738 {source="Orphanet:2345", source="MONDO:notFoundInDiseaseSubset"} @@ -324416,10 +336578,12 @@ is_obsolete: true id: MONDO:0016521 name: muscular pseudohypertrophy-hypothyroidism syndrome def: "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." [Orphanet:2349] +subset: gard_rare {source="GARD:8270"} subset: ordo_disease {source="Orphanet:2349"} synonym: "Hoffman syndrome" RELATED [Orphanet:2349] synonym: "Kocher-Debre-Semelaigne syndrome" EXACT [Orphanet:2349] synonym: "Kocher-Debré-Semelaigne syndrome" EXACT [Orphanet:2349] +xref: GARD:8270 {source="Orphanet:2349"} xref: ICD10CM:E03.1 {source="Orphanet:2349", source="Orphanet:2349/attributed", source="Orphanet:2349/ntbt"} xref: Orphanet:2349 {source="MONDO:equivalentTo"} xref: SCTID:716338001 {source="MONDO:equivalentTo"} @@ -324433,10 +336597,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016522 name: Kousseff syndrome def: "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." [https://orcid.org/0000-0001-5208-3432, Orphanet:2351] +subset: gard_rare {source="GARD:4752"} subset: ordo_malformation_syndrome {source="Orphanet:2351"} synonym: "sacral meningocele conotruncal heart defects" RELATED [GARD:0004752] synonym: "sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck" RELATED [GARD:0004752] synonym: "sacral meningocele-conotruncal heart defects syndrome" EXACT [Orphanet:2351] +xref: GARD:4752 {source="Orphanet:2351"} xref: ICD10CM:Q87.8 {source="Orphanet:2351/ntbt", source="Orphanet:2351"} xref: MESH:C537223 {source="MONDO:equivalentTo"} xref: Orphanet:2351 {source="MONDO:equivalentTo"} @@ -324448,9 +336614,11 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0016523 name: bronchogenic cyst def: "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." [Orphanet:2357] +subset: gard_rare {source="GARD:1025"} subset: ordo_morphological_anomaly {source="Orphanet:2357"} synonym: "bronchogenic cyst" EXACT [MONDO:ambiguous] synonym: "bronchogenic cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:1025 {source="Orphanet:2357"} xref: HP:0100730 {source="MONDO:otherHierarchy"} xref: ICD10CM:J98.4 {source="Orphanet:2357/ntbt", source="Orphanet:2357"} xref: MedDRA:10064585 {source="Orphanet:2357", source="Orphanet:2357/e"} @@ -324467,6 +336635,8 @@ property_value: IAO:0000589 "bronchogenic cyst (disease)" xsd:string id: MONDO:0016524 name: obsolete congenital vascular bone syndrome def: "OBSOLETE. An alteration in limb growth caused by congenital vascular malformations in childhood." [PMID:8305978] +subset: gard_rare {source="GARD:20629"} +xref: GARD:20629 {source="MONDO:obsoleteEquivalent", source="Orphanet:235832"} xref: Orphanet:235832 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/114" xsd:anyURI @@ -324479,10 +336649,13 @@ id: MONDO:0016525 name: familial hyperaldosteronism def: "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:235936] subset: disease_grouping +subset: gard_rare {source="GARD:20630", source="GARD:21617"} subset: ordo_group_of_disorders {source="Orphanet:371861", source="Orphanet:235936"} synonym: "FH" EXACT ABBREVIATION [Orphanet:235936] synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic] synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary] +xref: GARD:20630 {source="Orphanet:235936"} +xref: GARD:21617 {source="Orphanet:371861"} xref: ICD10CM:E26.0 {source="MONDO:relatedTo", source="Orphanet:371861", source="Orphanet:235936/attributed", source="Orphanet:235936/ntbt", source="Orphanet:235936", source="Orphanet:371861/attributed", source="Orphanet:371861/ntbt"} xref: MESH:C580087 {source="MONDO:equivalentTo"} xref: NCIT:C127160 {source="MONDO:equivalentTo"} @@ -324505,7 +336678,7 @@ id: MONDO:0016526 name: trisomy 9p def: "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." [Orphanet:236] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:18683", source="GARD:20866"} subset: ordo_group_of_disorders {source="Orphanet:262767"} subset: ordo_malformation_syndrome {source="Orphanet:236"} synonym: "9p duplication" EXACT [GARD:0005364] @@ -324521,6 +336694,8 @@ synonym: "partial trisomy of the short arm of chromosome 9" EXACT [MONDO:0016946 synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262767] synonym: "trisomy of the short arm of chromosome 9" EXACT [Orphanet:236] synonym: "trisomy type 9p" EXACT [MONDORULE:4, Orphanet:236] +xref: GARD:18683 {source="Orphanet:236"} +xref: GARD:20866 {source="Orphanet:262767"} xref: ICD10CM:Q92.2 {source="Orphanet:236", source="Orphanet:236/attributed", source="Orphanet:236/ntbt"} xref: Orphanet:236 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:262767 {source="MONDO:equivalentTo"} @@ -324535,11 +336710,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016527 name: glycogen storage disease due to lactate dehydrogenase deficiency +subset: gard_rare {source="GARD:3159"} subset: ordo_disease {source="Orphanet:2364"} synonym: "glycogenosis due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364] synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364] synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159] synonym: "LDH deficiency" EXACT [Orphanet:2364] +xref: GARD:3159 {source="Orphanet:2364"} xref: ICD10CM:E74.4 {source="Orphanet:2364", source="Orphanet:2364/attributed", source="Orphanet:2364/ntbt"} xref: MESH:C580233 {source="MONDO:equivalentTo"} xref: Orphanet:2364 {source="MONDO:equivalentTo"} @@ -324551,7 +336728,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0004457 ! lactate dehydro id: MONDO:0016528 name: limb body wall complex def: "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." [Orphanet:2369] -subset: gard_rare {source="GARD:0003251"} +subset: gard_rare {source="GARD:3251"} subset: ordo_malformation_syndrome {source="Orphanet:2369"} synonym: "aplasia of the cord" RELATED [GARD:0003251] synonym: "body stalk anomaly" RELATED [GARD:0003251] @@ -324560,6 +336737,7 @@ synonym: "LBWC syndrome" EXACT [Orphanet:2369] synonym: "limb-body wall complex" RELATED [GARD:0003251] synonym: "short umbilical cord syndrome" RELATED [GARD:0003251] synonym: "umbilical cord, short" RELATED [GARD:0003251] +xref: GARD:3251 {source="Orphanet:2369"} xref: ICD10CM:Q87.8 {source="Orphanet:2369", source="Orphanet:2369/ntbt"} xref: Orphanet:2369 {source="MONDO:equivalentTo"} xref: SCTID:716106000 {source="MONDO:equivalentTo"} @@ -324573,9 +336751,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3251/limb-bo id: MONDO:0016529 name: duplication of urethra def: "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." [Orphanet:237] -subset: gard_rare {source="GARD:0001975"} +subset: gard_rare {source="GARD:1975"} subset: ordo_morphological_anomaly {source="Orphanet:237"} synonym: "urethral duplication" RELATED [GARD:0001975] +xref: GARD:1975 {source="Orphanet:237"} xref: ICD10CM:Q64.7 {source="Orphanet:237/ntbt", source="Orphanet:237", source="Orphanet:237/inclusion"} xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:237 {source="MONDO:equivalentTo"} @@ -324590,8 +336769,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1975/duplica id: MONDO:0016530 name: laryngocele def: "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." [NCIT:C97062] -subset: gard_rare {source="GARD:0003191"} +subset: gard_rare {source="GARD:3191"} subset: ordo_malformation_syndrome {source="Orphanet:2372"} +xref: GARD:3191 {source="Orphanet:2372"} xref: ICD10CM:Q31.3 {source="Orphanet:2372/e", source="MONDO:equivalentTo", source="Orphanet:2372"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023885 {source="Orphanet:2372/e", source="Orphanet:2372"} @@ -324606,7 +336786,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3191/laryngo [Term] id: MONDO:0016531 name: digestive duplication +subset: gard_rare {source="GARD:18684"} subset: ordo_morphological_anomaly {source="Orphanet:238"} +xref: GARD:18684 {source="Orphanet:238"} xref: ICD10CM:Q45.8 {source="Orphanet:238/inclusion", source="Orphanet:238", source="Orphanet:238/ntbt"} xref: Orphanet:238 {source="MONDO:equivalentTo"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder @@ -324616,7 +336798,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016532 name: Lennox-Gastaut syndrome def: "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." [Orphanet:2382] -subset: gard_rare {source="GARD:0009912"} +subset: gard_rare {source="GARD:9912"} subset: ordo_disease {source="Orphanet:2382"} synonym: "encephalopathy of childhood" RELATED [GARD:0009912] synonym: "epileptic encephalopathy Lennox-Gastaut type" RELATED [GARD:0009912] @@ -324624,6 +336806,7 @@ synonym: "Lennox syndrome" EXACT [DOID:0050561] synonym: "LGS" EXACT ABBREVIATION [NCIT:C84816] synonym: "macrocephaly and epileptic encephalopathy" RELATED [OMIM:606369] xref: DOID:0050561 {source="MONDO:equivalentTo"} +xref: GARD:9912 {source="Orphanet:2382"} xref: ICD10CM:G40.4 {source="Orphanet:2382/ntbt", source="Orphanet:2382/inclusion", source="Orphanet:2382"} xref: MedDRA:10048816 {source="Orphanet:2382/e", source="Orphanet:2382"} xref: MESH:C535500 {source="Orphanet:2382/e", source="Orphanet:2382"} @@ -324645,12 +336828,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9912/lennox- [Term] id: MONDO:0016533 name: apolipoprotein A-II amyloidosis +subset: gard_rare {source="GARD:20631"} subset: ordo_clinical_subtype {source="Orphanet:238269"} synonym: "AApoAII amyloidosis" EXACT [Orphanet:238269] synonym: "familial amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269] synonym: "familial renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269] synonym: "hereditary amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269] synonym: "hereditary renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269] +xref: GARD:20631 {source="Orphanet:238269"} xref: ICD10CM:E85.0 {source="Orphanet:238269", source="Orphanet:238269/attributed", source="Orphanet:238269/ntbt"} xref: Orphanet:238269 {source="MONDO:equivalentTo"} xref: UMLS:CN201610 {source="MONDO:equivalentTo"} @@ -324659,7 +336844,9 @@ is_a: MONDO:0007099 {source="Orphanet:238269"} ! familial visceral amyloidosis [Term] id: MONDO:0016534 name: infundibulo-neurohypophysitis +subset: gard_rare {source="GARD:20632"} subset: ordo_disease {source="Orphanet:238305"} +xref: GARD:20632 {source="Orphanet:238305"} xref: ICD10CM:E23.6 {source="Orphanet:238305", source="Orphanet:238305/ntbt"} xref: Orphanet:238305 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:238305"} ! primary hypophysitis @@ -324669,7 +336856,7 @@ id: MONDO:0016535 name: hypohidrotic ectodermal dysplasia def: "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." [Orphanet:238468] comment: DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic -subset: gard_rare +subset: gard_rare {source="GARD:76"} subset: ordo_disease {source="Orphanet:238468"} synonym: "anhidrotic ectodermal dysplasia" EXACT [GARD:0000076, Orphanet:238468] synonym: "anhidrotic ectodermal dysplasia 1" EXACT [NCIT:C84562] @@ -324683,6 +336870,7 @@ synonym: "EDA" RELATED ABBREVIATION [GARD:0000076] synonym: "HED" EXACT ABBREVIATION [GARD:0000076, Orphanet:238468] synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [DOID:14793] xref: DOID:14793 {source="MONDO:equivalentTo"} +xref: GARD:76 {source="Orphanet:238468"} xref: HP:0007607 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.4 {source="Orphanet:238468", source="Orphanet:238468/e", source="Orphanet:238468/specific"} xref: MESH:D053358 {source="DOID:14793"} @@ -324704,7 +336892,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016536 name: obsolete autosomal recessive lymphoproliferative disease def: "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." [Orphanet:238505] +subset: gard_rare {source="GARD:17174"} synonym: "CD27 deficiency" EXACT [Orphanet:238505] +xref: GARD:17174 {source="MONDO:obsoleteEquivalent", source="Orphanet:238505"} xref: ICD10CM:D47.9 {source="Orphanet:238505/attributed", source="Orphanet:238505/ntbt", source="Orphanet:238505"} xref: Orphanet:238505 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:238505"} ! non-SCID combined immunodeficiency @@ -324719,10 +336909,12 @@ id: MONDO:0016537 name: lymphoproliferative syndrome def: "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." [NCIT:C9308] subset: disease_grouping +subset: gard_rare {source="GARD:20633"} subset: ordo_group_of_disorders {source="Orphanet:238510"} synonym: "lymphoproliferative disorder" EXACT [NCIT:C9308] synonym: "lymphoproliferative syndrome" EXACT [DOID:0060704, OMIMPS:308240] xref: DOID:0060704 {source="MONDO:equivalentTo"} +xref: GARD:20633 {source="Orphanet:238510"} xref: MESH:D008232 {source="MONDO:equivalentTo"} xref: NCIT:C9308 {source="MONDO:equivalentTo"} xref: OMIMPS:308240 {source="MONDO:equivalentTo", source="DOID:0060704"} @@ -324747,8 +336939,10 @@ replaced_by: MONDO:0011669 id: MONDO:0016539 name: atypical hypotonia-cystinuria syndrome def: "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." [Orphanet:238523] +subset: gard_rare {source="GARD:17175"} subset: ordo_disease {source="Orphanet:238523"} synonym: "atypical HCS" EXACT [Orphanet:238523] +xref: GARD:17175 {source="Orphanet:238523"} xref: ICD10CM:E72.0 {source="Orphanet:238523", source="Orphanet:238523/attributed", source="Orphanet:238523/ntbt"} xref: Orphanet:238523 {source="MONDO:equivalentTo"} xref: UMLS:CN201620 {source="MONDO:equivalentTo"} @@ -324760,8 +336954,10 @@ property_value: confidence "6.435897435897435" xsd:double id: MONDO:0016540 name: congenital secondary polycythemia subset: disease_grouping +subset: gard_rare {source="GARD:20635"} subset: ordo_group_of_disorders {source="Orphanet:238536"} synonym: "congenital secondary erythrocytosis" EXACT [Orphanet:238536] +xref: GARD:20635 {source="Orphanet:238536"} xref: ICD10CM:D75.1 {source="Orphanet:238536", source="Orphanet:238536/attributed", source="Orphanet:238536/ntbt"} xref: Orphanet:238536 {source="MONDO:equivalentTo"} is_a: MONDO:0020115 {source="Orphanet:238536"} ! secondary polycythemia @@ -324773,9 +336969,11 @@ id: MONDO:0016541 name: acquired secondary polycythemia def: "An instance of secondary polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20636"} subset: ordo_group_of_disorders {source="Orphanet:238547"} synonym: "acquired secondary erythrocytosis" EXACT [Orphanet:238547] synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired] +xref: GARD:20636 {source="Orphanet:238547"} xref: ICD10CM:D75.1 {source="Orphanet:238547", source="Orphanet:238547/ntbt"} xref: Orphanet:238547 {source="MONDO:equivalentTo"} xref: UMLS:C1318533 {source="Orphanet:238547"} @@ -324787,11 +336985,13 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0016542 name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome def: "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." [Orphanet:238569] +subset: gard_rare {source="GARD:13016"} subset: ordo_disease {source="Orphanet:238569"} synonym: "autosomal recessive early-onset IBD" RELATED [GARD:0013016] synonym: "autosomal recessive early-onset inflammatory bowel disease" RELATED [GARD:0013016] synonym: "IL10-related early-onset IBD" EXACT [Orphanet:238569] synonym: "IL10-related early-onset inflammatory bowel disease" EXACT [Orphanet:238569] +xref: GARD:13016 {source="Orphanet:238569"} xref: ICD10CM:K52.8 {source="Orphanet:238569", source="Orphanet:238569/attributed", source="Orphanet:238569/ntbt"} xref: Orphanet:238569 {source="MONDO:equivalentTo"} xref: UMLS:CN201623 {source="MONDO:equivalentTo"} @@ -324805,11 +337005,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187", source=" id: MONDO:0016543 name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency def: "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." [Orphanet:238583] +subset: gard_rare {source="GARD:7751"} subset: ordo_disease {source="Orphanet:238583"} synonym: "hyperphenylalaninemia" BROAD [Orphanet:238583] synonym: "hyperphenylalaninemia due to BH4 deficiency" EXACT [Orphanet:238583] synonym: "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" EXACT [Orphanet:238583] synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [Orphanet:238583] +xref: GARD:7751 {source="Orphanet:238583"} xref: ICD10CM:E70.1 {source="Orphanet:238583", source="Orphanet:238583/attributed", source="Orphanet:238583/ntbt"} xref: Orphanet:238583 {source="MONDO:equivalentTo"} xref: SCTID:68528007 {source="MONDO:equivalentTo"} @@ -324825,6 +337027,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016544 name: IgG4-related mesenteritis def: "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." [Orphanet:238593] +subset: gard_rare {source="GARD:8169"} subset: ordo_disease {source="Orphanet:238593"} synonym: "isolated mesenteric lipodystrophy" EXACT [Orphanet:238593] synonym: "lipomatous mesenteritis" EXACT [Orphanet:238593] @@ -324832,6 +337035,7 @@ synonym: "liposclerotic mesenteritis" EXACT [Orphanet:238593] synonym: "mesenteric lipogranuloma" EXACT [Orphanet:238593] synonym: "mesenteric panniculitis" EXACT [Orphanet:238593] synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593] +xref: GARD:8169 {source="Orphanet:238593"} xref: ICD10CM:K65.8 {source="Orphanet:238593/ntbt", source="Orphanet:238593"} xref: Orphanet:238593 {source="MONDO:equivalentTo"} xref: SCTID:1092381000119100 {source="MONDO:equivalentTo"} @@ -324844,9 +337048,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare id: MONDO:0016545 name: leukoencephalopathy-palmoplantar keratoderma syndrome def: "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." [Orphanet:2386] -subset: gard_rare +subset: gard_rare {source="GARD:3232"} subset: ordo_disease {source="Orphanet:2386"} synonym: "leukoencephalopathy palmoplantar keratoderma" RELATED [GARD:0003232] +xref: GARD:3232 {source="Orphanet:2386"} xref: Orphanet:2386 {source="MONDO:equivalentTo", source="GARD:0003232"} xref: UMLS:CN201627 {source="MONDO:equivalentTo"} is_a: MONDO:0006025 {source="https://github.com/monarch-initiative/mondo/pull/2317"} ! autosomal recessive disease @@ -324857,12 +337062,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3232/leukoen id: MONDO:0016546 name: primary orthostatic tremor def: "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." [Orphanet:238606] -subset: gard_rare {source="GARD:0008563"} +subset: gard_rare {source="GARD:8563"} subset: ordo_disease {source="Orphanet:238606"} synonym: "orthostatic tremor, primary" RELATED [GARD:0008563] synonym: "OT" RELATED ABBREVIATION [GARD:0008563] synonym: "pot" EXACT [Orphanet:238606] synonym: "shaky leg syndrome" RELATED [GARD:0008563] +xref: GARD:8563 {source="Orphanet:238606"} xref: ICD10CM:G25.2 {source="Orphanet:238606", source="Orphanet:238606/ntbt"} xref: MESH:C536418 {source="MONDO:equivalentTo", source="Orphanet:238606", source="Orphanet:238606/e"} xref: Orphanet:238606 {source="MONDO:equivalentTo"} @@ -324875,7 +337081,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8563/primary [Term] id: MONDO:0016547 name: Beckwith-Wiedemann syndrome due to NSD1 mutation +subset: gard_rare {source="GARD:17178"} subset: ordo_etiological_subtype {source="Orphanet:238613"} +xref: GARD:17178 {source="Orphanet:238613"} xref: ICD10CM:Q87.3 {source="Orphanet:238613", source="Orphanet:238613/attributed", source="Orphanet:238613/ntbt"} xref: Orphanet:238613 {source="MONDO:equivalentTo"} xref: UMLS:CN201629 {source="MONDO:equivalentTo"} @@ -324886,8 +337094,10 @@ property_value: confidence "1.0" xsd:double id: MONDO:0016548 name: megacystis-megaureter syndrome def: "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." [Orphanet:238637] +subset: gard_rare {source="GARD:20638"} subset: ordo_disease {source="Orphanet:238637"} synonym: "megaureter-megacystis syndrome" EXACT [Orphanet:238637] +xref: GARD:20638 {source="Orphanet:238637"} xref: ICD10CM:Q62.7 {source="Orphanet:238637/ntbt", source="Orphanet:238637"} xref: Orphanet:238637 {source="MONDO:equivalentTo"} xref: SCTID:253904001 {source="MONDO:equivalentTo"} @@ -324897,7 +337107,9 @@ is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary s [Term] id: MONDO:0016549 name: primary megaureter, adult-onset form +subset: gard_rare {source="GARD:20639"} subset: ordo_clinical_subtype {source="Orphanet:238642"} +xref: GARD:20639 {source="Orphanet:238642"} xref: ICD10CM:Q62.2 {source="Orphanet:238642/attributed", source="Orphanet:238642/ntbt", source="Orphanet:238642"} xref: Orphanet:238642 {source="MONDO:equivalentTo"} xref: UMLS:CN201632 {source="MONDO:equivalentTo"} @@ -324906,7 +337118,9 @@ is_a: MONDO:0018960 {source="Orphanet:238642"} ! congenital primary megaureter [Term] id: MONDO:0016550 name: congenital primary megaureter, obstructed form +subset: gard_rare {source="GARD:20640"} subset: ordo_clinical_subtype {source="Orphanet:238646"} +xref: GARD:20640 {source="Orphanet:238646"} xref: ICD10CM:Q62.2 {source="Orphanet:238646", source="Orphanet:238646/attributed", source="Orphanet:238646/ntbt"} xref: Orphanet:238646 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238646"} ! congenital primary megaureter @@ -324916,7 +337130,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016551 name: congenital primary megaureter, refluxing form +subset: gard_rare {source="GARD:20641"} subset: ordo_clinical_subtype {source="Orphanet:238650"} +xref: GARD:20641 {source="Orphanet:238650"} xref: ICD10CM:Q62.2 {source="Orphanet:238650/attributed", source="Orphanet:238650/ntbt", source="Orphanet:238650"} xref: Orphanet:238650 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238650"} ! congenital primary megaureter @@ -324926,7 +337142,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016552 name: congenital primary megaureter, nonrefluxing and unobstructed form +subset: gard_rare {source="GARD:20642"} subset: ordo_clinical_subtype {source="Orphanet:238654"} +xref: GARD:20642 {source="Orphanet:238654"} xref: ICD10CM:Q62.2 {source="Orphanet:238654", source="Orphanet:238654/attributed", source="Orphanet:238654/ntbt"} xref: Orphanet:238654 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238654"} ! congenital primary megaureter @@ -324936,8 +337154,10 @@ id: MONDO:0016553 name: isolated congenital hypogonadotropic hypogonadism def: "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping +subset: gard_rare {source="GARD:20643"} subset: ordo_group_of_disorders {source="Orphanet:238666"} synonym: "nonsyndromic congenital hypogonadotropic hypogonadism" EXACT [MONDO:patterns/isolated] +xref: GARD:20643 {source="Orphanet:238666"} xref: ICD10CM:E23.0 {source="Orphanet:238666", source="MONDO:relatedTo", source="Orphanet:238666/attributed", source="Orphanet:238666/ntbt"} xref: Orphanet:238666 {source="MONDO:equivalentTo"} xref: UMLS:CN924907 {source="MONDO:equivalentTo"} @@ -324951,8 +337171,10 @@ relationship: has_characteristic MONDO:0021140 ! congenital id: MONDO:0016554 name: neonatal iodine exposure def: "A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." [https://orcid.org/0000-0001-5208-3432, Orphanet:238688] +subset: gard_rare {source="GARD:20644"} subset: ordo_disease {source="Orphanet:238688"} synonym: "iodine antenatal exposure" RELATED [GARD:0003025] +xref: GARD:20644 {source="Orphanet:238688"} xref: ICD10CM:P72.2 {source="Orphanet:238688", source="Orphanet:238688/ntbt"} xref: Orphanet:238688 {source="MONDO:equivalentTo"} xref: UMLS:CN226956 {source="MONDO:equivalentTo"} @@ -324963,7 +337185,9 @@ relationship: excluded_subClassOf MONDO:0016556 {source="Orphanet:238688"} ! tra id: MONDO:0016555 name: transient congenital hypothyroidism due to maternal factor subset: disease_grouping +subset: gard_rare {source="GARD:20645"} subset: ordo_group_of_disorders {source="Orphanet:238696"} +xref: GARD:20645 {source="Orphanet:238696"} xref: ICD10CM:P72.2 {source="Orphanet:238696/ntbt", source="Orphanet:238696"} xref: Orphanet:238696 {source="MONDO:equivalentTo"} is_a: MONDO:0015792 {source="Orphanet:238696"} ! transient congenital hypothyroidism @@ -324972,7 +337196,9 @@ is_a: MONDO:0015792 {source="Orphanet:238696"} ! transient congenital hypothyroi id: MONDO:0016556 name: transient congenital hypothyroidism due to neonatal factor subset: disease_grouping +subset: gard_rare {source="GARD:20646"} subset: ordo_group_of_disorders {source="Orphanet:238699"} +xref: GARD:20646 {source="Orphanet:238699"} xref: ICD10CM:P72.2 {source="Orphanet:238699", source="Orphanet:238699/ntbt"} xref: Orphanet:238699 {source="MONDO:equivalentTo"} is_a: MONDO:0015792 {source="Orphanet:238699"} ! transient congenital hypothyroidism @@ -324983,9 +337209,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016557 name: leukonychia totalis def: "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." [Orphanet:2387] +subset: gard_rare {source="GARD:9759"} subset: ordo_disease {source="Orphanet:2387"} synonym: "hereditary white nails" RELATED [GARD:0009759] synonym: "total leukonychia" RELATED [GARD:0009759] +xref: GARD:9759 {source="Orphanet:2387"} xref: ICD10CM:Q84.4 {source="Orphanet:2387/attributed", source="Orphanet:2387/ntbt", source="Orphanet:2387"} xref: MESH:C535889 {source="Orphanet:2387", source="MONDO:equivalentTo", source="Orphanet:2387/e"} xref: Orphanet:2387 {source="MONDO:equivalentTo"} @@ -324998,6 +337226,7 @@ property_value: confidence "1.0227272727272725" xsd:double id: MONDO:0016558 name: familial congenital mirror movements def: "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder] +subset: gard_rare {source="GARD:12551"} subset: ordo_disease {source="Orphanet:238722"} synonym: "bimanual synkinesis" RELATED [GARD:0012551] synonym: "CMM" RELATED ABBREVIATION [GARD:0012551] @@ -325010,6 +337239,7 @@ synonym: "hereditary congenital mirror movements" EXACT [DOID:0111153, Orphanet: synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722] synonym: "isolated congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722] xref: DOID:0111153 {source="MONDO:equivalentTo"} +xref: GARD:12551 {source="Orphanet:238722"} xref: OMIMPS:157600 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:equivalentTo", source="DOID:0111153"} xref: SCTID:229247004 {source="MONDO:equivalentTo"} @@ -325023,8 +337253,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016559 name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea def: "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." [Orphanet:238763] +subset: gard_rare {source="GARD:10942"} subset: ordo_malformation_syndrome {source="Orphanet:238763"} synonym: "megalocornea-spherophakia-secondary glaucoma syndrome" EXACT [Orphanet:238763] +xref: GARD:10942 {source="Orphanet:238763"} xref: ICD10CM:Q15.8 {source="Orphanet:238763/attributed", source="Orphanet:238763/ntbt", source="Orphanet:238763"} xref: Orphanet:238763 {source="MONDO:equivalentTo"} xref: UMLS:CN201642 {source="MONDO:equivalentTo"} @@ -325047,11 +337279,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016561 name: 1q44 microdeletion syndrome def: "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." [Orphanet:238769] -subset: gard_rare {source="GARD:0010943"} +subset: gard_rare {source="GARD:10943"} subset: ordo_malformation_syndrome {source="Orphanet:238769"} synonym: "chromosome 1q44 microdeletion syndrome" RELATED [GARD:0010943] synonym: "Del(1)(q44)" EXACT [Orphanet:238769] synonym: "monosomy 1q44" EXACT [Orphanet:238769] +xref: GARD:10943 {source="Orphanet:238769"} xref: ICD10CM:Q93.5 {source="Orphanet:238769/attributed", source="Orphanet:238769/ntbt", source="Orphanet:238769"} xref: Orphanet:238769 {source="MONDO:equivalentTo"} xref: SCTID:719649004 {source="MONDO:equivalentTo"} @@ -325067,9 +337300,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10943/1q44-m id: MONDO:0016562 name: progressive supranuclear palsy-pure akinesia with gait freezing syndrome def: "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240094] +subset: gard_rare {source="GARD:20647"} subset: ordo_clinical_subtype {source="Orphanet:240094"} synonym: "PSP-PAGF" EXACT [Orphanet:240094] synonym: "PSP-pure akinesia with gait freezing" EXACT [Orphanet:240094] +xref: GARD:20647 {source="Orphanet:240094"} xref: ICD10CM:G23.1 {source="Orphanet:240094/attributed", source="Orphanet:240094/ntbt", source="Orphanet:240094"} xref: Orphanet:240094 {source="MONDO:equivalentTo"} xref: UMLS:CN226961 {source="MONDO:equivalentTo"} @@ -325079,9 +337314,11 @@ is_a: MONDO:0020488 {source="Orphanet:240094"} ! atypical progressive supranucle id: MONDO:0016563 name: progressive supranuclear palsy-corticobasal syndrome def: "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240103] +subset: gard_rare {source="GARD:20648"} subset: ordo_clinical_subtype {source="Orphanet:240103"} synonym: "PSP-CBS" EXACT [Orphanet:240103] synonym: "PSP-corticobasal syndrome" EXACT [Orphanet:240103] +xref: GARD:20648 {source="Orphanet:240103"} xref: ICD10CM:G23.1 {source="Orphanet:240103", source="Orphanet:240103/attributed", source="Orphanet:240103/ntbt"} xref: Orphanet:240103 {source="MONDO:equivalentTo"} xref: UMLS:CN201681 {source="MONDO:equivalentTo"} @@ -325091,10 +337328,12 @@ is_a: MONDO:0020488 {source="Orphanet:240103"} ! atypical progressive supranucle id: MONDO:0016564 name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome def: "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." [Orphanet:240112] +subset: gard_rare {source="GARD:20649"} subset: ordo_clinical_subtype {source="Orphanet:240112"} synonym: "progressive supranuclear palsy-apraxia of speech syndrome" EXACT [Orphanet:240112] synonym: "PSP-AOS" EXACT [Orphanet:240112] synonym: "PSP-PNFA" EXACT [Orphanet:240112] +xref: GARD:20649 {source="Orphanet:240112"} xref: ICD10CM:G23.1 {source="Orphanet:240112", source="Orphanet:240112/attributed", source="Orphanet:240112/ntbt"} xref: Orphanet:240112 {source="MONDO:equivalentTo"} xref: UMLS:CN226962 {source="MONDO:equivalentTo"} @@ -325103,8 +337342,10 @@ is_a: MONDO:0020488 {source="Orphanet:240112"} ! atypical progressive supranucle [Term] id: MONDO:0016565 name: obsolete syndromic genetic obesity +subset: gard_rare {source="GARD:20650"} synonym: "syndrome associated with obesity (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic obesity (disease)" EXACT [MONDO:patterns/syndromic] +xref: GARD:20650 {source="Orphanet:240371", source="MONDO:obsoleteEquivalent"} xref: Orphanet:240371 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226963 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -325120,12 +337361,13 @@ is_obsolete: true id: MONDO:0016566 name: loiasis def: "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." [Orphanet:2404] -subset: gard_rare {source="GARD:0003283"} +subset: gard_rare {source="GARD:3283"} subset: ordo_disease {source="Orphanet:2404"} synonym: "African eye worm" RELATED [GARD:0003283] synonym: "Loa loa filariasis" RELATED [GARD:0003283] xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"} xref: EFO:1000729 {source="MONDO:equivalentTo"} +xref: GARD:3283 {source="Orphanet:2404"} xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} xref: ICD9:125.2 {source="DOID:13523"} xref: MedDRA:10024797 {source="Orphanet:2404", source="Orphanet:2404/e"} @@ -325142,12 +337384,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3283/loiasis id: MONDO:0016567 name: locked-in syndrome def: "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." [Orphanet:2406] -subset: gard_rare {source="GARD:0006919"} +subset: gard_rare {source="GARD:6919"} subset: ordo_disease {source="Orphanet:2406"} synonym: "Cerebromedullospinal disconnection" EXACT [Orphanet:2406] synonym: "locked in syndrome" EXACT [DOID:12697] synonym: "locked-in state" EXACT [DOID:12697, ICD9CM:344.81] xref: DOID:12697 {source="MONDO:equivalentTo"} +xref: GARD:6919 {source="Orphanet:2406"} xref: ICD10CM:G83.5 {source="DOID:12697"} xref: ICD10CM:G83.8 {source="Orphanet:2406/ntbt", source="Orphanet:2406"} xref: ICD9:344.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12697"} @@ -325166,13 +337409,14 @@ id: MONDO:0016568 name: Lowe-Kohn-Cohen syndrome def: "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." [Orphanet:2408] comment: Editor note: check GARD assignment -subset: gard_rare +subset: gard_rare {source="GARD:1695"} subset: ordo_malformation_syndrome {source="Orphanet:2408"} synonym: "deafness - nephritis - ano-rectal malformation" RELATED [GARD:0001695] synonym: "deafness nephritis anorectal malformation" RELATED [GARD:0001695] synonym: "deafness-nephritis-ano-rectal malformation syndrome" EXACT [Orphanet:2408] synonym: "dominant ano-rectal malformation, nephritis and nerve-deafness" RELATED [GARD:0001695] synonym: "Lowe Kohn Cohen syndrome" RELATED [GARD:0001695] +xref: GARD:1695 {source="Orphanet:2408"} xref: ICD10CM:Q87.8 {source="Orphanet:2408/attributed", source="Orphanet:2408/ntbt", source="Orphanet:2408"} xref: MESH:C535996 {source="MONDO:equivalentTo"} xref: Orphanet:2408 {source="MONDO:equivalentTo"} @@ -325197,7 +337441,9 @@ id: MONDO:0016570 name: primary pulmonary lymphoma def: "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." [Orphanet:2420] comment: Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma +subset: gard_rare {source="GARD:18770"} subset: ordo_disease {source="Orphanet:2420"} +xref: GARD:18770 {source="Orphanet:2420"} xref: MedDRA:10037418 {source="Orphanet:2420", source="Orphanet:2420/e"} xref: Orphanet:2420 {source="MONDO:equivalentTo"} xref: SCTID:718200007 {source="MONDO:equivalentTo"} @@ -325209,8 +337455,10 @@ is_a: MONDO:0017207 {source="Orphanet:2420"} ! primary organ-specific lymphoma id: MONDO:0016571 name: macrocephaly-short stature-paraplegia syndrome def: "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." [Orphanet:2427] +subset: gard_rare {source="GARD:172"} subset: ordo_malformation_syndrome {source="Orphanet:2427"} synonym: "Volcke-Soekarman syndrome" EXACT [Orphanet:2427] +xref: GARD:172 {source="Orphanet:2427"} xref: MESH:C537718 {source="MONDO:equivalentTo"} xref: Orphanet:2427 {source="MONDO:equivalentTo"} xref: SCTID:722033000 {source="MONDO:equivalentTo"} @@ -325234,10 +337482,11 @@ is_a: MONDO:0017094 {source="Orphanet:2431"} ! cerebral cortical dysplasia id: MONDO:0016573 name: acute fatty liver of pregnancy def: "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." [Orphanet:243367] -subset: gard_rare {source="GARD:0009578"} +subset: gard_rare {source="GARD:9578"} subset: ordo_disease {source="Orphanet:243367"} synonym: "acute fatty liver, gestational" RELATED [GARD:0009578] synonym: "AFLP" EXACT ABBREVIATION [Orphanet:243367] +xref: GARD:9578 {source="Orphanet:243367"} xref: ICD10CM:O26.6 {source="Orphanet:243367/ntbt", source="Orphanet:243367"} xref: MedDRA:10000746 {source="Orphanet:243367", source="Orphanet:243367/e"} xref: MESH:C537957 {source="Orphanet:243367", source="MONDO:equivalentTo", source="Orphanet:243367/e"} @@ -325253,7 +337502,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9578/acute-f id: MONDO:0016574 name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome def: "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." [Orphanet:2435] -subset: gard_rare +subset: gard_rare {source="GARD:3347"} subset: ordo_disease {source="Orphanet:2435"} synonym: "congenital hypomelanotic and hypermelanotic macules" RELATED [GARD:0003347, MESH:C537836] synonym: "hereditary congenital hypopigmented and hyperpigmented macules" RELATED [GARD:0003347, MESH:C537836] @@ -325261,6 +337510,7 @@ synonym: "macules hereditary congenital hypopigmented and hyperpigmented" RELATE synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" RELATED [MESH:C537836] synonym: "Westerhof Beemer Cormane syndrome" RELATED [GARD:0003347, MESH:C537836] synonym: "Westerhof-Beemer-Cormane syndrome" EXACT [Orphanet:2435] +xref: GARD:3347 {source="Orphanet:2435"} xref: MESH:C537836 {source="MONDO:equivalentTo"} xref: OMIM:154000 {source="MONDO:equivalentObsolete", source="GARD:0003347"} xref: Orphanet:2435 {source="GARD:0003347", source="MONDO:equivalentTo"} @@ -325274,6 +337524,7 @@ id: MONDO:0016575 name: primary ciliary dyskinesia def: "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." [Orphanet:244] comment: Editor note: we deliberately merge two MESHes here +subset: gard_rare {source="GARD:4484"} subset: ordo_disease {source="Orphanet:244"} synonym: "bronchiectasis, chronic sinusitis and dextrocardia syndrome" RELATED [MONDO:cjm] synonym: "ciliary dyskinesia primary" RELATED [GARD:0004484] @@ -325291,6 +337542,7 @@ synonym: "Primary ciliary dyskinesia, Kartagener type" RELATED [GARD:0006815] synonym: "Siewert syndrome" RELATED [GARD:0006815, MONDO:cjm] xref: DOID:0050144 {source="MONDO:equivalentTo"} xref: DOID:9562 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:4484 {source="Orphanet:244"} xref: ICD10CM:Q34.8 {source="Orphanet:244/attributed", source="Orphanet:244/ntbt", source="Orphanet:244"} xref: MedDRA:10069713 {source="Orphanet:244/e", source="Orphanet:244"} xref: MESH:D002925 {source="MONDO:equivalentTo", source="DOID:9562"} @@ -325316,6 +337568,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:244400"} ! inheri id: MONDO:0016576 name: split hand-foot malformation def: "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." [Orphanet:2440] +subset: gard_rare {source="GARD:6319"} subset: ordo_malformation_syndrome {source="Orphanet:2440"} synonym: "ectrodactyly" EXACT [Orphanet:2440] synonym: "FEWER digits" EXACT [NCIT:C75000] @@ -325327,6 +337580,7 @@ synonym: "split hand-split foot malformation" RELATED [Orphanet:2440] synonym: "split-hand deformity" EXACT [DOID:0090020] synonym: "split-hand/foot malformation" EXACT [NCIT:C75000] xref: DOID:0090020 {source="MONDO:equivalentTo"} +xref: GARD:6319 {source="Orphanet:2440"} xref: ICD10CM:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"} xref: ICD10CM:Q72.7 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"} xref: NCIT:C75000 {source="MONDO:equivalentTo"} @@ -325346,8 +337600,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016577 name: biliary atresia with splenic malformation syndrome def: "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." [Orphanet:244283] +subset: gard_rare {source="GARD:20652"} subset: ordo_malformation_syndrome {source="Orphanet:244283"} synonym: "BASM syndrome" EXACT [Orphanet:244283] +xref: GARD:20652 {source="Orphanet:244283"} xref: ICD10CM:Q44.2 {source="Orphanet:244283/ntbt", source="Orphanet:244283"} xref: Orphanet:244283 {source="MONDO:equivalentTo"} xref: SCTID:717156002 {source="MONDO:equivalentTo"} @@ -325362,10 +337618,12 @@ id: MONDO:0016578 name: obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies def: "OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." [Orphanet:2443] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' +subset: gard_rare {source="GARD:18771"} subset: ordo_group_of_disorders {source="Orphanet:2443"} synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [Orphanet:2443] synonym: "OXPHOS disease due to nDNA anomalies" EXACT [Orphanet:2443] synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [Orphanet:2443] +xref: GARD:18771 {source="Orphanet:2443", source="MONDO:obsoleteEquivalent"} xref: Orphanet:2443 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201731 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -325376,6 +337634,8 @@ consider: MONDO:0016387 [Term] id: MONDO:0016579 name: obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis +subset: gard_rare {source="GARD:17186"} +xref: GARD:17186 {source="MONDO:obsoleteEquivalent", source="Orphanet:244305"} xref: Orphanet:244305 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN228623 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:244305"} ! obsolete primary bone dysplasia with defective bone mineralization @@ -325389,6 +337649,7 @@ is_obsolete: true id: MONDO:0016580 name: congenital pulmonary airway malformation def: "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." [MESH:D015615] +subset: gard_rare {source="GARD:18772"} subset: ordo_malformation_syndrome {source="Orphanet:2444"} synonym: "CCAM" EXACT ABBREVIATION [Orphanet:2444] synonym: "congenital cystic adenomatoid malformation" RELATED [GARD:0006232] @@ -325398,6 +337659,7 @@ synonym: "congenital cystic adenomatous malformation of the lung" EXACT [Orphane synonym: "congenital cystic disease of the lung" EXACT [Orphanet:2444] synonym: "CPAM" EXACT ABBREVIATION [Orphanet:2444] synonym: "cystic adenomatoid malformation of lung" RELATED [GARD:0006232] +xref: GARD:18772 {source="Orphanet:2444"} xref: ICD10CM:Q33.0 {source="Orphanet:2444/ntbt", source="Orphanet:2444"} xref: MESH:D015615 {source="MONDO:equivalentTo"} xref: NCIT:C98892 {source="MONDO:equivalentTo"} @@ -325417,6 +337679,7 @@ id: MONDO:0016581 name: conotruncal heart malformations def: "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." [Orphanet:2445] subset: disease_grouping +subset: gard_rare {source="GARD:8189"} subset: ordo_group_of_disorders {source="Orphanet:2445"} synonym: "conotruncal anomaly face syndrome" RELATED [OMIM:217095] synonym: "conotruncal cardiac defects" RELATED [GARD:0008189] @@ -325428,6 +337691,7 @@ synonym: "interrupted aortic Arch" RELATED [OMIM:217095] synonym: "persistent truncus arteriosus" RELATED [OMIM:217095] synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406] synonym: "truncus arteriosus communis" RELATED [OMIM:217095] +xref: GARD:8189 {source="Orphanet:2445"} xref: ICD9:747.11 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:217095 {source="Orphanet:2445", source="MONDO:equivalentTo", source="Orphanet:2445/e"} xref: Orphanet:2445 {source="MONDO:equivalentTo"} @@ -325445,8 +337709,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016582 name: congenital mitral malformation subset: disease_grouping -subset: gard_rare {source="GARD:0001495"} +subset: gard_rare {source="GARD:1495"} subset: ordo_group_of_disorders {source="Orphanet:2447"} +xref: GARD:1495 {source="Orphanet:2447"} xref: Orphanet:2447 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation @@ -325477,10 +337742,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016584 name: mandibuloacral dysplasia def: "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." [Orphanet:2457] +subset: gard_rare {source="GARD:11893"} subset: ordo_malformation_syndrome {source="Orphanet:2457"} synonym: "MAD" EXACT ABBREVIATION [Orphanet:2457] synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056] xref: DOID:0081127 {source="MONDO:equivalentTo"} +xref: GARD:11893 {source="Orphanet:2457"} xref: ICD10CM:Q87.5 {source="Orphanet:2457", source="Orphanet:2457/attributed", source="Orphanet:2457/ntbt"} xref: OMIMPS:248370 {source="MONDO:equivalentTo"} xref: Orphanet:2457 {source="MONDO:equivalentTo"} @@ -325504,6 +337771,7 @@ id: MONDO:0016586 name: systemic mastocytosis def: "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." [Orphanet:2467] subset: disease_grouping +subset: gard_rare {source="GARD:8616"} subset: ordo_group_of_disorders {source="Orphanet:2467"} synonym: "Agressive systemic mastocytosis" RELATED [GARD:0008616] synonym: "Mast cell disease" BROAD [Orphanet:2467] @@ -325516,6 +337784,7 @@ synonym: "systemic mastocytosis, NOS" RELATED EXCLUDE [NCIT:C9235] synonym: "systemic tissue Mast cell disease" EXACT [NCIT:C9235] synonym: "systemic tissue mast cell disease" EXACT [DOID:349] xref: DOID:349 {source="MONDO:equivalentTo"} +xref: GARD:8616 {source="Orphanet:2467"} xref: ICD10CM:C96.2 {source="Orphanet:2467/ntbt", source="Orphanet:2467"} xref: MedDRA:10042949 {source="Orphanet:2467", source="Orphanet:2467/e"} xref: MESH:D034721 {source="DOID:349", source="Orphanet:2467", source="Orphanet:2467/e"} @@ -325534,7 +337803,7 @@ name: arrhythmogenic right ventricular cardiomyopathy def: "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." [Orphanet:247] subset: clingen subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:5847"} subset: ordo_group_of_disorders {source="Orphanet:247"} synonym: "arrhythmogenic right ventricular cardiomyopathy" EXACT CLINGEN_PREFERRED [GARD:0005847] synonym: "arrhythmogenic right ventricular dysplasia" EXACT [DOID:0050431, Orphanet:247] @@ -325545,6 +337814,7 @@ synonym: "ARVC cardiomyopathy" EXACT [DOID:0050431] synonym: "ARVD" EXACT ABBREVIATION [DOID:0050431, GARD:0005847, Orphanet:247] synonym: "right ventricular dysplasia" EXACT [NCIT:C84571] xref: DOID:0050431 {source="MONDO:equivalentTo"} +xref: GARD:5847 {source="Orphanet:247"} xref: ICD10CM:I42.8 {source="Orphanet:247", source="Orphanet:247/index", source="Orphanet:247/ntbt"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058093 {source="Orphanet:247", source="Orphanet:247/e"} @@ -325565,6 +337835,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare id: MONDO:0016588 name: infantile mercury poisoning def: "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." [Orphanet:247165] +subset: gard_rare {source="GARD:20653"} subset: ordo_disease {source="Orphanet:247165"} synonym: "erythroedema polyneuritis" EXACT [Orphanet:247165] synonym: "Feer disease" EXACT [Orphanet:247165] @@ -325573,6 +337844,7 @@ synonym: "infantile mercury intoxication" EXACT [Orphanet:247165] synonym: "pink disease" EXACT [Orphanet:247165] synonym: "Swift disease" EXACT [Orphanet:247165] synonym: "Swift-Feer disease" EXACT [Orphanet:247165] +xref: GARD:20653 {source="Orphanet:247165"} xref: ICD10CM:T56.1 {source="Orphanet:247165/ntbt", source="Orphanet:247165"} xref: MESH:D000170 {source="MONDO:equivalentTo"} xref: Orphanet:247165 {source="MONDO:equivalentTo"} @@ -325586,7 +337858,9 @@ relationship: realized_in_response_to ECTO:0001571 ! exposure to mercury [Term] id: MONDO:0016589 name: obsolete progressive cerebello-cerebral atrophy +subset: gard_rare {source="GARD:17187"} synonym: "PCCA" EXACT ABBREVIATION [Orphanet:247198] +xref: GARD:17187 {source="MONDO:obsoleteEquivalent", source="Orphanet:247198"} xref: Orphanet:247198 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -325603,9 +337877,11 @@ replaced_by: MONDO:0005220 id: MONDO:0016591 name: sporadic adult-onset ataxia of unknown etiology def: "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." [Orphanet:247234] +subset: gard_rare {source="GARD:20654"} subset: ordo_disease {source="Orphanet:247234"} synonym: "idiopathic late-onset cerebellar ataxia" EXACT [Orphanet:247234] synonym: "SAOA" EXACT ABBREVIATION [Orphanet:247234] +xref: GARD:20654 {source="Orphanet:247234"} xref: Orphanet:247234 {source="MONDO:equivalentTo"} xref: SCTID:734023003 {source="MONDO:equivalentTo"} is_a: MONDO:0016593 {source="https://orcid.org/0000-0002-4142-7153"} ! acquired ataxia @@ -325614,6 +337890,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016592 name: obsolete non-hereditary degenerative ataxia +subset: gard_rare {source="GARD:20655"} +xref: GARD:20655 {source="MONDO:obsoleteEquivalent", source="Orphanet:247239"} xref: Orphanet:247239 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:247239"} ! cerebellar ataxia property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -325626,8 +337904,10 @@ id: MONDO:0016593 name: acquired ataxia def: "A type of ataxia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20656"} subset: ordo_group_of_disorders {source="Orphanet:247242"} synonym: "acquired ataxia" EXACT [MONDO:patterns/acquired] +xref: GARD:20656 {source="Orphanet:247242"} xref: Orphanet:247242 {source="MONDO:equivalentTo"} xref: SCTID:722968003 {source="MONDO:equivalentTo"} is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder @@ -325640,12 +337920,14 @@ relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:247242"} ! cer id: MONDO:0016594 name: superficial siderosis def: "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." [Orphanet:247245] +subset: gard_rare {source="GARD:9484"} subset: ordo_disease {source="Orphanet:247245"} synonym: "hemosiderosis of the central nervous system" EXACT [Orphanet:247245] synonym: "superficial hemosiderosis of the central nervous system" EXACT [Orphanet:247245] synonym: "superficial hemosiderosis of the CNS" EXACT [Orphanet:247245] synonym: "superficial siderosis of the central nervous system" EXACT [Orphanet:247245] synonym: "superficial siderosis of the CNS" EXACT [Orphanet:247245] +xref: GARD:9484 {source="Orphanet:247245"} xref: ICD10CM:I69.0 {source="Orphanet:247245", source="Orphanet:247245/ntbt"} xref: Orphanet:247245 {source="MONDO:equivalentTo"} is_a: MONDO:0005559 {source="https://orcid.org/0000-0002-0736-9199"} ! neurodegenerative disease @@ -325655,6 +337937,7 @@ relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:247245"} ! acq id: MONDO:0016595 name: inhalational anthrax def: "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." [Orphanet:247257] +subset: gard_rare {source="GARD:20657"} subset: ordo_disease {source="Orphanet:247257"} synonym: "inhalation anthrax" RELATED [DOID:0050160] synonym: "inhalation anthrax disease" EXACT [Orphanet:247257] @@ -325664,6 +337947,7 @@ synonym: "respiratory anthrax disease" EXACT [Orphanet:247257] synonym: "wool-sorters' disease" EXACT [DOID:0050160] synonym: "woolsorters' disease" EXACT [DOID:0050160] xref: DOID:0050160 {source="MONDO:equivalentTo"} +xref: GARD:20657 {source="Orphanet:247257"} xref: ICD10CM:A22.1 {source="Orphanet:247257", source="Orphanet:247257/ntbt"} xref: ICD9:022.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035667 {source="Orphanet:247257", source="Orphanet:247257/e"} @@ -325678,11 +337962,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare [Term] id: MONDO:0016596 name: hyperphosphatasia-intellectual disability syndrome +subset: gard_rare {source="GARD:17188"} subset: ordo_disease {source="Orphanet:247262"} synonym: "HPMR" EXACT ABBREVIATION [Orphanet:247262] synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [OMIMPS:239300] synonym: "hyperphosphatasia with mental retardation syndrome" EXACT DEPRECATED [OMIMPS:239300] synonym: "Mabry syndrome" EXACT [Orphanet:247262] +xref: GARD:17188 {source="Orphanet:247262"} xref: OMIMPS:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:equivalentTo"} xref: SCTID:33982008 {source="MONDO:equivalentTo"} @@ -325707,10 +337993,12 @@ replaced_by: MONDO:0013626 [Term] id: MONDO:0016598 name: autosomal recessive secondary polycythemia not associated with VHL gene +subset: gard_rare {source="GARD:20658"} subset: ordo_disease {source="Orphanet:247378"} synonym: "autosomal recessive secondary erythrocytosis not associated with VHL gene" EXACT [Orphanet:247378] synonym: "autosomal recessive secondary erythrocytosis, non-Chuvash type" EXACT [Orphanet:247378] synonym: "autosomal recessive secondary polycythemia, non-Chuvash type" EXACT [Orphanet:247378] +xref: GARD:20658 {source="Orphanet:247378"} xref: ICD10CM:D75.1 {source="Orphanet:247378", source="Orphanet:247378/attributed", source="Orphanet:247378/ntbt"} xref: Orphanet:247378 {source="MONDO:equivalentTo"} xref: UMLS:CN226972 {source="MONDO:equivalentTo"} @@ -325720,8 +338008,10 @@ is_a: MONDO:0016540 {source="Orphanet:247378"} ! congenital secondary polycythem id: MONDO:0016599 name: obsolete autosomal dominant secondary polycythemia def: "OBSOLETE. Autosomal dominant form of secondary polycythemia." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:17189"} synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511] synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:17189 {source="Orphanet:247511", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D75.1 {source="Orphanet:247511/attributed", source="Orphanet:247511/ntbt", source="Orphanet:247511"} xref: Orphanet:247511 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201790 {source="MONDO:obsoleteEquivalent"} @@ -325737,10 +338027,12 @@ is_obsolete: true id: MONDO:0016600 name: acute neonatal citrullinemia type I def: "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." [Orphanet:247546] +subset: gard_rare {source="GARD:20659"} subset: ordo_clinical_subtype {source="Orphanet:247546"} synonym: "acute neonatal citrullinemia type 1" EXACT [Orphanet:247546] synonym: "classic citrullinemia type 1" EXACT [Orphanet:247546] synonym: "classic citrullinemia type I" EXACT [Orphanet:247546] +xref: GARD:20659 {source="Orphanet:247546"} xref: ICD10CM:E72.2 {source="Orphanet:247546/attributed", source="Orphanet:247546/ntbt", source="Orphanet:247546"} xref: Orphanet:247546 {source="MONDO:equivalentTo"} xref: UMLS:CN201793 {source="MONDO:equivalentTo"} @@ -325754,10 +338046,12 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0016601 name: adult-onset citrullinemia type I def: "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." [Orphanet:247573] +subset: gard_rare {source="GARD:20660"} subset: ordo_clinical_subtype {source="Orphanet:247573"} synonym: "adult-onset citrullinemia type 1" EXACT [Orphanet:247573] synonym: "late-onset citrullinemia type 1" EXACT [Orphanet:247573] synonym: "late-onset citrullinemia type I" EXACT [Orphanet:247573] +xref: GARD:20660 {source="Orphanet:247573"} xref: ICD10CM:E72.2 {source="Orphanet:247573/attributed", source="Orphanet:247573/ntbt", source="Orphanet:247573"} xref: Orphanet:247573 {source="MONDO:equivalentTo"} xref: UMLS:CN201794 {source="MONDO:equivalentTo"} @@ -325770,8 +338064,10 @@ id: MONDO:0016602 name: citrin deficiency def: "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." [Orphanet:247582] subset: disease_grouping +subset: gard_rare {source="GARD:20661"} subset: ordo_group_of_disorders {source="Orphanet:247582"} synonym: "citrin deficiency" EXACT CLINGEN_PREFERRED [] +xref: GARD:20661 {source="Orphanet:247582"} xref: ICD10CM:E72.2 {source="Orphanet:247582/attributed", source="Orphanet:247582/ntbt", source="Orphanet:247582"} xref: Orphanet:247582 {source="MONDO:equivalentTo"} xref: SCTID:429735007 {source="MONDO:equivalentTo"} @@ -325785,6 +338081,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016603 name: citrullinemia type II def: "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." [Orphanet:247585] +subset: gard_rare {source="GARD:10215"} subset: ordo_disease {source="Orphanet:247585"} synonym: "adult-onset citrin deficiency" EXACT [Orphanet:247585] synonym: "adult-onset type 2 citrullinemia" EXACT [Orphanet:247585] @@ -325793,6 +338090,7 @@ synonym: "citrullinemia type 2" EXACT [Orphanet:247585] synonym: "citrullinemia type II" EXACT CLINGEN_PREFERRED [NCIT:C150603] synonym: "CTLN2" EXACT ABBREVIATION [NCIT:C150603, Orphanet:247585] xref: DOID:0070342 +xref: GARD:10215 {source="Orphanet:247585"} xref: ICD10CM:E72.2 {source="Orphanet:247585/attributed", source="Orphanet:247585/ntbt", source="Orphanet:247585"} xref: NCIT:C150603 {source="MONDO:equivalentTo"} xref: Orphanet:247585 {source="MONDO:equivalentTo"} @@ -325804,9 +338102,11 @@ is_a: MONDO:0016602 {source="Orphanet:247585"} ! citrin deficiency [Term] id: MONDO:0016604 name: dysraphism-cleft lip/palate-limb reduction defects syndrome +subset: gard_rare {source="GARD:3438"} subset: ordo_malformation_syndrome {source="Orphanet:2476"} synonym: "dysraphism, cleft lip/palate, limb reduction defects" RELATED [GARD:0003438] synonym: "Medeira-Dennis-Donnai syndrome" EXACT [Orphanet:2476] +xref: GARD:3438 {source="Orphanet:2476"} xref: ICD10CM:Q00.0 {source="Orphanet:2476", source="Orphanet:2476/attributed", source="Orphanet:2476/btnt"} xref: Orphanet:2476 {source="MONDO:equivalentTo"} xref: UMLS:CN201798 {source="MONDO:equivalentTo"} @@ -325816,11 +338116,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0016605 name: perinatal lethal hypophosphatasia def: "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." [Orphanet:247623] +subset: gard_rare {source="GARD:17191"} subset: ordo_clinical_subtype {source="Orphanet:247623"} synonym: "HPPN" EXACT ABBREVIATION [OMIM:241500] synonym: "hypophosphatasia, perinatal lethal" RELATED [] synonym: "perinatal lethal phosphoethanolaminuria" EXACT [Orphanet:247623] synonym: "perinatal lethal Rathburn disease" EXACT [Orphanet:247623] +xref: GARD:17191 {source="Orphanet:247623"} xref: ICD10CM:E83.3 {source="Orphanet:247623/attributed", source="Orphanet:247623/ntbt", source="MONDO:relatedTo", source="Orphanet:247623"} xref: OMIM:241500 {source="Orphanet:247623/ntbt", source="Orphanet:247623", source="MONDO:includedEntryInOMIM"} xref: Orphanet:247623 {source="MONDO:equivalentTo"} @@ -325833,9 +338135,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016606 name: obsolete prenatal benign hypophosphatasia def: "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." [Orphanet:247638] +subset: gard_rare {source="GARD:20662"} subset: ordo_clinical_subtype {source="Orphanet:247638"} synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638] synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638] +xref: GARD:20662 {source="MONDO:obsoleteEquivalent", source="Orphanet:247638"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247638", source="Orphanet:247638/attributed", source="Orphanet:247638/ntbt"} xref: Orphanet:247638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201801 {source="MONDO:obsoleteEquivalent"} @@ -325850,8 +338154,10 @@ consider: MONDO:0600011 id: MONDO:0016607 name: odontohypophosphatasia def: "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." [Orphanet:247685] +subset: gard_rare {source="GARD:17194"} subset: ordo_clinical_subtype {source="Orphanet:247685"} synonym: "HPPO" EXACT ABBREVIATION [OMIM:146300] +xref: GARD:17194 {source="Orphanet:247685"} xref: ICD10CM:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="Orphanet:247685/attributed", source="Orphanet:247685/ntbt"} xref: MESH:C564146 {source="MONDO:equivalentTo"} xref: NCIT:C131309 {source="MONDO:equivalentTo"} @@ -325868,10 +338174,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016608 name: megalencephaly def: "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." [MESH:D058627] +subset: gard_rare {source="GARD:16601"} subset: ordo_malformation_syndrome {source="Orphanet:2477"} synonym: "macroencephaly" EXACT [Orphanet:2477] synonym: "megalencephaly" EXACT [MONDO:ambiguous] synonym: "megalencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:16601 {source="Orphanet:2477"} xref: HP:0001355 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.5 {source="Orphanet:2477", source="Orphanet:2477/e"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -325890,8 +338198,10 @@ property_value: IAO:0000589 "megalencephaly (disease)" xsd:string id: MONDO:0016609 name: inflammatory myopathy with abundant macrophages def: "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." [Orphanet:247718] +subset: gard_rare {source="GARD:20663"} subset: ordo_disease {source="Orphanet:247718"} synonym: "imam" EXACT [Orphanet:247718] +xref: GARD:20663 {source="Orphanet:247718"} xref: ICD10CM:G72.4 {source="Orphanet:247718", source="Orphanet:247718/ntbt"} xref: Orphanet:247718 {source="MONDO:equivalentTo"} xref: SCTID:766706007 {source="MONDO:equivalentTo"} @@ -325901,8 +338211,10 @@ is_a: MONDO:0020122 {source="Orphanet:247718"} ! acquired idiopathic inflammator [Term] id: MONDO:0016610 name: idiopathic eosinophilic myositis +subset: gard_rare {source="GARD:20664"} subset: ordo_disease {source="Orphanet:247724"} synonym: "idiopathic eosinophilia-associated myopathy" EXACT [Orphanet:247724] +xref: GARD:20664 {source="Orphanet:247724"} xref: ICD10CM:M60.8 {source="Orphanet:247724", source="Orphanet:247724/ntbt"} xref: Orphanet:247724 {source="MONDO:equivalentTo"} is_a: MONDO:0020122 {source="Orphanet:247724"} ! acquired idiopathic inflammatory myopathy @@ -325911,12 +338223,13 @@ is_a: MONDO:0020122 {source="Orphanet:247724"} ! acquired idiopathic inflammator id: MONDO:0016611 name: lipoblastoma def: "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." [NCIT:P378] -subset: gard_rare {source="GARD:0012015"} +subset: gard_rare {source="GARD:12015"} subset: ordo_disease {source="Orphanet:247762"} synonym: "embryonic lipoma" EXACT [NCIT:C27483] synonym: "fetal lipoma" EXACT [NCIT:C27483] synonym: "foetal lipoma" EXACT OMO:0003005 [] synonym: "infantile lipoma" EXACT [NCIT:C27483] +xref: GARD:12015 {source="Orphanet:247762"} xref: MESH:D062689 {source="MONDO:equivalentTo"} xref: NCIT:C27483 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:247762 {source="MONDO:equivalentTo"} @@ -325932,12 +338245,14 @@ id: MONDO:0016612 name: X-linked cerebellar ataxia def: "X-linked form of cerebellar ataxia." [MONDO:patterns/x_linked] subset: disease_grouping +subset: gard_rare {source="GARD:20665"} subset: ordo_group_of_disorders {source="Orphanet:247765"} synonym: "cerebellar ataxia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "hereditary ataxia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked hereditary ataxia" EXACT [MONDO:patterns/x_linked] xref: DOID:0050953 {source="MONDO:equivalentTo"} xref: DOID:0111828 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:20665 {source="Orphanet:247765"} xref: ICD10CM:G11.1 {source="Orphanet:247765/inclusion", source="Orphanet:247765", source="Orphanet:247765/ntbt"} xref: Orphanet:247765 {source="MONDO:equivalentTo"} is_a: MONDO:0100309 ! hereditary ataxia @@ -325947,11 +338262,13 @@ intersection_of: has_characteristic HP:0001417 ! X-linked inheritance [Term] id: MONDO:0016613 name: APC-related attenuated familial adenomatous polyposis +subset: gard_rare {source="GARD:17197"} subset: ordo_clinical_subtype {source="Orphanet:247806"} synonym: "APC-related AFAP" EXACT [Orphanet:247806] synonym: "APC-related attenuated familial adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "APC-related attenuated familial polyposis coli" EXACT [Orphanet:247806] synonym: "APC-related attenuated FAP" EXACT [Orphanet:247806] +xref: GARD:17197 {source="Orphanet:247806"} xref: ICD10CM:D12.6 {source="Orphanet:247806", source="Orphanet:247806/attributed", source="Orphanet:247806/ntbt"} xref: Orphanet:247806 {source="MONDO:equivalentTo"} xref: UMLS:CN201818 {source="MONDO:equivalentTo"} @@ -325962,8 +338279,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0016614 name: autosomal recessive ataxia due to PEX10 deficiency +subset: gard_rare {source="GARD:20666"} subset: ordo_disease {source="Orphanet:247815"} synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [Orphanet:247815] +xref: GARD:20666 {source="Orphanet:247815"} xref: ICD10CM:G11.8 {source="Orphanet:247815", source="Orphanet:247815/attributed", source="Orphanet:247815/ntbt"} xref: Orphanet:247815 {source="MONDO:equivalentTo"} xref: UMLS:CN201819 {source="MONDO:equivalentTo"} @@ -326019,13 +338338,14 @@ is_a: MONDO:0019432 {source="Orphanet:247861"} ! rheumatoid factor-negative juve id: MONDO:0016619 name: autosomal recessive hypohidrotic ectodermal dysplasia def: "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." [NCIT:C84580] -subset: gard_rare {source="GARD:0002057"} +subset: gard_rare {source="GARD:2057"} subset: ordo_etiological_subtype {source="Orphanet:248"} synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" RELATED [GARD:0002057] synonym: "AR-HED" EXACT [Orphanet:248] synonym: "autosomal recessive anhidrotic ectodermal dysplasia" EXACT [Orphanet:248] synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0002057] synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:2057 {source="Orphanet:248"} xref: ICD10CM:Q82.4 {source="Orphanet:248/attributed", source="Orphanet:248/ntbt", source="Orphanet:248"} xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="Orphanet:248/e"} xref: NCIT:C84580 {source="MONDO:equivalentTo"} @@ -326042,6 +338362,7 @@ id: MONDO:0016620 name: primary hypertrophic osteoarthropathy def: "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." [Orphanet:248095] subset: disease_grouping +subset: gard_rare {source="GARD:7299", source="GARD:20667"} subset: ordo_group_of_disorders {source="Orphanet:248095"} subset: ordo_malformation_syndrome {source="Orphanet:2796"} synonym: "hypertrophic osteoarthropathy, primary" EXACT [MONDO:0000183] @@ -326059,6 +338380,8 @@ synonym: "PHOAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259100] synonym: "Touraine Solente Gole syndrome" EXACT [GARD:0007299] synonym: "Touraine-Solente-Gole syndrome" EXACT [Orphanet:2796] xref: DOID:14283 {source="MONDO:equivalentTo"} +xref: GARD:20667 {source="Orphanet:248095"} +xref: GARD:7299 {source="Orphanet:2796"} xref: ICD10CM:M89.4 {source="Orphanet:2796/inclusion", source="Orphanet:2796/ntbt", source="DOID:14283", source="Orphanet:2796", source="Orphanet:248095", source="Orphanet:248095/attributed", source="Orphanet:248095/ntbt"} xref: MedDRA:10051686 {source="Orphanet:2796", source="Orphanet:2796/e"} xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="Orphanet:248095", source="Orphanet:248095/e"} @@ -326085,12 +338408,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016621 name: juvenile Huntington disease def: "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." [Orphanet:248111] -subset: gard_rare {source="GARD:0010510"} +subset: gard_rare {source="GARD:10510"} subset: ordo_disease {source="Orphanet:248111"} synonym: "Huntington disease, juvenile onset" RELATED [GARD:0010510] synonym: "JHD" EXACT ABBREVIATION [Orphanet:248111] synonym: "juvenile Huntington chorea" EXACT [Orphanet:248111] synonym: "juvenile onset HD" RELATED [GARD:0010510] +xref: GARD:10510 {source="Orphanet:248111"} xref: ICD10CM:G10 {source="Orphanet:248111/attributed", source="Orphanet:248111/ntbt", source="Orphanet:248111"} xref: NCIT:C147072 {source="MONDO:equivalentTo"} xref: Orphanet:248111 {source="MONDO:equivalentTo"} @@ -326104,11 +338428,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10510/juveni id: MONDO:0016622 name: Melhem-Fahl syndrome def: "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." [Orphanet:2482] -subset: gard_rare {source="GARD:0003462"} +subset: gard_rare {source="GARD:3462"} subset: n_of_one subset: ordo_malformation_syndrome {source="Orphanet:2482"} synonym: "fifteen dorsal vertebrae and rib pairs" RELATED [GARD:0003462] synonym: "Melhem Fahl syndrome" RELATED [GARD:0003462] +xref: GARD:3462 {source="Orphanet:2482"} xref: ICD10CM:Q76.4 {source="Orphanet:2482/attributed", source="Orphanet:2482/ntbt", source="Orphanet:2482"} xref: MESH:C537238 {source="Orphanet:2482/e", source="MONDO:equivalentTo", source="Orphanet:2482"} xref: Orphanet:2482 {source="MONDO:equivalentTo"} @@ -326126,8 +338451,10 @@ id: MONDO:0016623 name: obsolete rare deficiency anemia def: "OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:20668"} subset: ordo_group_of_disorders {source="Orphanet:248293"} synonym: "rare deficiency anemia" EXACT [MONDO:patterns/rare] +xref: GARD:20668 {source="MONDO:obsoleteEquivalent", source="Orphanet:248293"} xref: Orphanet:248293 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0041782 {source="Orphanet:248293"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -326138,9 +338465,11 @@ replaced_by: MONDO:0001639 id: MONDO:0016624 name: inherited deficiency anemia subset: disease_grouping +subset: gard_rare {source="GARD:20669"} subset: ordo_group_of_disorders {source="Orphanet:248296"} synonym: "constitutional rare deficiency anaemia" EXACT OMO:0003005 [] synonym: "constitutional rare deficiency anemia" EXACT [Orphanet:248296] +xref: GARD:20669 {source="Orphanet:248296"} xref: Orphanet:248296 {source="MONDO:equivalentTo"} is_a: MONDO:0001639 {source="MONDO:Redundant", source="Orphanet:248296"} ! deficiency anemia intersection_of: MONDO:0001639 ! deficiency anemia @@ -326152,9 +338481,11 @@ id: MONDO:0016625 name: acquired deficiency anemia def: "An instance of deficiency anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20670"} subset: ordo_group_of_disorders {source="Orphanet:248302"} synonym: "rare acquired deficiency anaemia" EXACT OMO:0003005 [] synonym: "rare acquired deficiency anemia" EXACT [Orphanet:248302] +xref: GARD:20670 {source="Orphanet:248302"} xref: Orphanet:248302 {source="MONDO:equivalentTo"} xref: UMLS:CN226976 {source="MONDO:equivalentTo"} is_a: MONDO:0001639 {source="Orphanet:248302"} ! deficiency anemia @@ -326178,9 +338509,11 @@ is_obsolete: true id: MONDO:0016627 name: obsolete rare hemorrhagic disorder subset: disease_grouping +subset: gard_rare {source="GARD:20671"} subset: ordo_group_of_disorders {source="Orphanet:248308"} synonym: "rare bleeding disorder" EXACT [Orphanet:248308] synonym: "rare coagulopathy" EXACT [Orphanet:248308] +xref: GARD:20671 {source="MONDO:obsoleteEquivalent", source="Orphanet:248308"} xref: Orphanet:248308 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0005779 {source="Orphanet:248308"} xref: UMLS:C0019087 {source="Orphanet:248308"} @@ -326193,9 +338526,11 @@ replaced_by: MONDO:0002243 id: MONDO:0016628 name: obsolete hemorrhagic disorder due to a coagulation factors defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemorrhagic disease' +subset: gard_rare {source="GARD:20672"} subset: ordo_group_of_disorders {source="Orphanet:248315"} synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [Orphanet:248315] synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [Orphanet:248315] +xref: GARD:20672 {source="Orphanet:248315", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248315 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226979 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326208,12 +338543,14 @@ consider: MONDO:0002243 id: MONDO:0016629 name: obsolete hemorrhagic disorder due to a platelet anomaly subset: disease_grouping +subset: gard_rare {source="GARD:20673"} subset: ordo_group_of_disorders {source="Orphanet:248326"} synonym: "rare bleeding disorder due to a platelet anomaly" EXACT [Orphanet:248326] synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] synonym: "rare coagulopathy due to a platelet anomaly" EXACT [Orphanet:248326] synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] +xref: GARD:20673 {source="Orphanet:248326", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248326 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN236380 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326226,10 +338563,12 @@ consider: MONDO:0002243 id: MONDO:0016630 name: isolated delta-storage pool disease def: "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." [Orphanet:248340] +subset: gard_rare {source="GARD:20674"} subset: ordo_disease {source="Orphanet:248340"} synonym: "isolated delta-SPD" EXACT [Orphanet:248340] synonym: "isolated dense-SPD" EXACT [Orphanet:248340] synonym: "isolated dense-storage pool disease" EXACT [Orphanet:248340] +xref: GARD:20674 {source="Orphanet:248340"} xref: ICD10CM:D69.1 {source="Orphanet:248340", source="Orphanet:248340/attributed", source="Orphanet:248340/ntbt"} xref: Orphanet:248340 {source="MONDO:equivalentTo"} xref: UMLS:CN201837 {source="MONDO:equivalentTo"} @@ -326242,12 +338581,14 @@ id: MONDO:0016631 name: obsolete hemorrhagic disorder due to an acquired platelet anomaly def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth." [https://orcid.org/0000-0001-5208-3432] subset: disease_grouping +subset: gard_rare {source="GARD:20675"} subset: ordo_group_of_disorders {source="Orphanet:248347"} synonym: "rare bleeding disorder due to an acquired platelet anomaly" EXACT [Orphanet:248347] synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [Orphanet:248347] synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] +xref: GARD:20675 {source="Orphanet:248347", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248347 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226981 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326259,7 +338600,9 @@ is_obsolete: true id: MONDO:0016632 name: obsolete thrombotic disorder due to a coagulation factors defect subset: disease_grouping +subset: gard_rare {source="GARD:20676"} subset: ordo_group_of_disorders {source="Orphanet:248358"} +xref: GARD:20676 {source="Orphanet:248358", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248358 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226982 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326272,7 +338615,9 @@ consider: MONDO:0000831 id: MONDO:0016633 name: obsolete thrombotic disorder due to a constitutional coagulation factors defect subset: disease_grouping +subset: gard_rare {source="GARD:20677"} subset: ordo_group_of_disorders {source="Orphanet:248361"} +xref: GARD:20677 {source="MONDO:obsoleteEquivalent", source="Orphanet:248361"} xref: Orphanet:248361 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226983 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326285,8 +338630,10 @@ id: MONDO:0016634 name: obsolete thrombotic disorder due to an acquired coagulation factors defect def: "OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:20678"} subset: ordo_group_of_disorders {source="Orphanet:248365"} synonym: "acquired rare thrombotic disorder due to a coagulation factors defect" EXACT [MONDO:patterns/acquired] +xref: GARD:20678 {source="MONDO:obsoleteEquivalent", source="Orphanet:248365"} xref: Orphanet:248365 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326298,7 +338645,9 @@ is_obsolete: true id: MONDO:0016635 name: obsolete thrombotic disorder due to a platelet anomaly subset: disease_grouping +subset: gard_rare {source="GARD:20679"} subset: ordo_group_of_disorders {source="Orphanet:248368"} +xref: GARD:20679 {source="Orphanet:248368", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248368 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226985 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326311,7 +338660,9 @@ consider: MONDO:0000831 id: MONDO:0016636 name: obsolete thrombotic disorder due to a constitutional platelet anomaly subset: disease_grouping +subset: gard_rare {source="GARD:20680"} subset: ordo_group_of_disorders {source="Orphanet:248401"} +xref: GARD:20680 {source="Orphanet:248401", source="MONDO:obsoleteEquivalent"} xref: Orphanet:248401 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226986 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326323,7 +338674,9 @@ is_obsolete: true id: MONDO:0016637 name: obsolete thrombotic disorder due to an acquired platelet anomaly subset: disease_grouping +subset: gard_rare {source="GARD:20681"} subset: ordo_group_of_disorders {source="Orphanet:248404"} +xref: GARD:20681 {source="MONDO:obsoleteEquivalent", source="Orphanet:248404"} xref: Orphanet:248404 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226987 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326334,7 +338687,9 @@ is_obsolete: true [Term] id: MONDO:0016638 name: familial hypodysfibrinogenemia +subset: gard_rare {source="GARD:17202"} subset: ordo_clinical_subtype {source="Orphanet:248408"} +xref: GARD:17202 {source="Orphanet:248408"} xref: ICD10CM:D68.2 {source="Orphanet:248408", source="Orphanet:248408/attributed", source="Orphanet:248408/ntbt"} xref: Orphanet:248408 {source="MONDO:equivalentTo"} xref: UMLS:C0272350 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:248408"} @@ -326346,9 +338701,11 @@ property_value: confidence "0.04999999999999982" xsd:double id: MONDO:0016639 name: lower limb deficiency-hypospadias syndrome def: "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." [Orphanet:2487] +subset: gard_rare {source="GARD:18773"} subset: ordo_malformation_syndrome {source="Orphanet:2487"} synonym: "Fried-Goldberg-Mundel syndrome" EXACT [Orphanet:2487] synonym: "lower limb malformation-hypospadias syndrome" RELATED [Orphanet:2487] +xref: GARD:18773 {source="Orphanet:2487"} xref: MESH:C535640 {source="MONDO:equivalentTo"} xref: Orphanet:2487 {source="MONDO:equivalentTo"} xref: UMLS:C2930962 {source="Orphanet:2487", source="MONDO:equivalentTo", source="Orphanet:2487/e"} @@ -326367,8 +338724,10 @@ replaced_by: MONDO:0000845 [Term] id: MONDO:0016641 name: limb transversal defect-cardiac anomaly syndrome +subset: gard_rare {source="GARD:2622"} subset: ordo_malformation_syndrome {source="Orphanet:2492"} synonym: "Hecht-Scott syndrome" EXACT [Orphanet:2492] +xref: GARD:2622 {source="Orphanet:2492"} xref: ICD10CM:Q87.2 {source="Orphanet:2492/attributed", source="Orphanet:2492/ntbt", source="Orphanet:2492"} xref: MESH:C535856 {source="MONDO:equivalentTo"} xref: Orphanet:2492 {source="MONDO:equivalentTo"} @@ -326382,6 +338741,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016642 name: meningioma def: "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" [NCIT:C3230] +subset: gard_rare {source="GARD:7015"} subset: ordo_disease {source="Orphanet:2495"} synonym: "intracranial meningioma" RELATED [DOID:3565] synonym: "meningeal neoplasm" RELATED [DOID:3565] @@ -326395,6 +338755,7 @@ synonym: "primary meningeal tumor" RELATED [DOID:3565] synonym: "primary meningeal tumour" RELATED OMO:0003005 [] synonym: "supratentorial meningioma" RELATED [DOID:3565] xref: DOID:3565 {source="MONDO:equivalentTo"} +xref: GARD:7015 {source="Orphanet:2495"} xref: HP:0002858 {source="MONDO:otherHierarchy"} xref: ICD10CM:D32.9 {source="Orphanet:2495", source="Orphanet:2495/ntbt", source="DOID:3565"} xref: ICDO:9530/0 {source="NCIT:C3230"} @@ -326431,12 +338792,14 @@ id: MONDO:0016643 name: frontonasal dysplasia def: "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." [Orphanet:250] subset: disease_grouping +subset: gard_rare {source="GARD:2392"} subset: ordo_group_of_disorders {source="Orphanet:250"} synonym: "FND1" NARROW ABBREVIATION [NCIT:C129028] synonym: "frontonasal dysplasia 1" NARROW [NCIT:C129028] synonym: "median cleft face syndrome" EXACT [Orphanet:250] synonym: "median cleft syndrome" RELATED [GARD:0002392] xref: DOID:0081044 {source="MONDO:equivalentTo"} +xref: GARD:2392 {source="Orphanet:250"} xref: ICD10CM:Q75.8 {source="Orphanet:250", source="Orphanet:250/attributed", source="Orphanet:250/ntbt"} xref: MESH:C538065 {source="MONDO:equivalentTo", source="Orphanet:250", source="Orphanet:250/e"} xref: NCIT:C129028 @@ -326454,11 +338817,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016644 name: logopenic progressive aphasia def: "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge." [Orphanet:250831] -subset: gard_rare {source="GARD:0010791"} +subset: gard_rare {source="GARD:10791"} subset: ordo_disease {source="Orphanet:250831"} synonym: "Logopenic primary progressive aphasia" EXACT [Orphanet:250831] synonym: "Logopenic variant PPA" EXACT [Orphanet:250831] synonym: "LPA" EXACT ABBREVIATION [Orphanet:250831] +xref: GARD:10791 {source="Orphanet:250831"} xref: ICD10CM:G31.0 {source="Orphanet:250831", source="Orphanet:250831/ntbt"} xref: Orphanet:250831 {source="MONDO:equivalentTo"} xref: SCTID:716380002 {source="MONDO:equivalentTo"} @@ -326470,7 +338834,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10791/logope id: MONDO:0016645 name: obsolete rare neoplastic disease subset: disease_grouping +subset: gard_rare {source="GARD:22535"} subset: ordo_group_of_disorders {source="Orphanet:250908"} +xref: GARD:22535 {source="MONDO:obsoleteEquivalent", source="Orphanet:250908"} xref: Orphanet:250908 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201870 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -326481,7 +338847,9 @@ replaced_by: MONDO:0023370 id: MONDO:0016646 name: autosomal dominant optic atrophy and peripheral neuropathy def: "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." [Orphanet:250932] +subset: gard_rare {source="GARD:20686"} subset: ordo_disease {source="Orphanet:250932"} +xref: GARD:20686 {source="Orphanet:250932"} xref: ICD10CM:H47.2 {source="Orphanet:250932/attributed", source="Orphanet:250932/ntbt", source="Orphanet:250932"} xref: Orphanet:250932 {source="MONDO:equivalentTo"} xref: UMLS:CN201872 {source="MONDO:equivalentTo"} @@ -326493,7 +338861,9 @@ relationship: has_characteristic HP:0000006 {source="Orphanet:250932"} ! Autosom id: MONDO:0016647 name: obsolete autosomal recessive Stickler syndrome def: "OBSOLETE. A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." [Orphanet:250984] +subset: gard_rare {source="GARD:17203"} synonym: "Stickler syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:17203 {source="MONDO:obsoleteEquivalent", source="Orphanet:250984"} xref: ICD10CM:Q87.5 {source="Orphanet:250984/attributed", source="Orphanet:250984/ntbt", source="Orphanet:250984"} xref: Orphanet:250984 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201875 {source="MONDO:obsoleteEquivalent"} @@ -326513,6 +338883,7 @@ id: MONDO:0016648 name: multiple epiphyseal dysplasia def: "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." [Orphanet:251] subset: disease_grouping +subset: gard_rare {source="GARD:10756"} subset: ordo_group_of_disorders {source="Orphanet:251"} synonym: "EDM" EXACT ABBREVIATION [Orphanet:251] synonym: "epiphyseal dysplasia, multiple" RELATED [GARD:0010756, OMIMPS:132400] @@ -326522,6 +338893,7 @@ synonym: "multiple epiphyseal dysplasia (disease)" EXACT [https://orcid.org/0000 synonym: "Polyepiphyseal dysplasia" EXACT [Orphanet:251] synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721] xref: DOID:12721 {source="MONDO:equivalentTo"} +xref: GARD:10756 {source="Orphanet:251"} xref: HP:0002654 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:251/ntbt", source="Orphanet:251", source="Orphanet:251/index"} xref: ICD9:756.56 {source="DOID:12721", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -326543,6 +338915,7 @@ property_value: IAO:0000589 "multiple epiphyseal dysplasia (disease)" xsd:string id: MONDO:0016649 name: Warburg micro syndrome def: "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." [Orphanet:2510] +subset: gard_rare {source="GARD:5534"} subset: ordo_malformation_syndrome {source="Orphanet:2510"} synonym: "micro syndrome" EXACT [DOID:0060237] synonym: "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism" RELATED [GARD:0005534] @@ -326551,6 +338924,7 @@ synonym: "WARBM" EXACT ABBREVIATION [DOID:0060237, Orphanet:2510] synonym: "Warburg micro syndrome" EXACT [Orphanet:2510] synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [DOID:0060237] xref: DOID:0060237 {source="MONDO:equivalentTo"} +xref: GARD:5534 {source="Orphanet:2510"} xref: ICD10CM:Q87.0 {source="Orphanet:2510/attributed", source="Orphanet:2510/ntbt", source="Orphanet:2510"} xref: MESH:C536681 {source="DOID:0060237"} xref: OMIMPS:600118 {source="DOID:0060237", source="MONDO:equivalentTo"} @@ -326571,9 +338945,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016650 name: paternal uniparental disomy of chromosome 1 def: "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:251004] +subset: gard_rare {source="GARD:20688"} subset: ordo_malformation_syndrome {source="Orphanet:251004"} synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251004] synonym: "UPD(1)pat" EXACT [Orphanet:251004] +xref: GARD:20688 {source="Orphanet:251004"} xref: ICD10CM:Q99.8 {source="Orphanet:251004", source="Orphanet:251004/attributed", source="Orphanet:251004/ntbt"} xref: Orphanet:251004 {source="MONDO:equivalentTo"} xref: SCTID:766719006 {source="MONDO:equivalentTo"} @@ -326584,9 +338960,11 @@ relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid id: MONDO:0016651 name: maternal uniparental disomy of chromosome 1 def: "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:251009] +subset: gard_rare {source="GARD:20689"} subset: ordo_malformation_syndrome {source="Orphanet:251009"} synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251009] synonym: "UPD(1)mat" EXACT [Orphanet:251009] +xref: GARD:20689 {source="Orphanet:251009"} xref: ICD10CM:Q99.8 {source="Orphanet:251009/attributed", source="Orphanet:251009/ntbt", source="Orphanet:251009"} xref: Orphanet:251009 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -326596,9 +338974,11 @@ relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid id: MONDO:0016652 name: 2q31.1 microdeletion syndrome def: "2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." [Orphanet:251014] +subset: gard_rare {source="GARD:20690"} subset: ordo_malformation_syndrome {source="Orphanet:251014"} synonym: "Del(2)(q31.1)" EXACT [Orphanet:251014] synonym: "monosomy 2q31.1" EXACT [Orphanet:251014] +xref: GARD:20690 {source="Orphanet:251014"} xref: ICD10CM:Q93.5 {source="Orphanet:251014", source="Orphanet:251014/attributed", source="Orphanet:251014/ntbt"} xref: Orphanet:251014 {source="MONDO:equivalentTo"} xref: SCTID:716387004 {source="MONDO:equivalentTo"} @@ -326613,10 +338993,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016653 name: 2q33.1 microdeletion syndrome def: "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." [Orphanet:251028] +subset: gard_rare {source="GARD:17204"} subset: ordo_malformation_syndrome {source="Orphanet:251028"} synonym: "Del(2)(q33.1)" EXACT [Orphanet:251028] synonym: "monosomy 2q33.1" EXACT [Orphanet:251028] xref: DECIPHER:51 {source="MONDO:equivalentTo"} +xref: GARD:17204 {source="Orphanet:251028"} xref: ICD10CM:Q93.5 {source="Orphanet:251028/attributed", source="Orphanet:251028/ntbt", source="Orphanet:251028"} xref: Orphanet:251028 {source="MONDO:equivalentTo"} xref: SCTID:763062006 {source="MONDO:equivalentTo"} @@ -326630,7 +339012,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016654 name: ring chromosome 5 def: "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." [Orphanet:251043] -subset: gard_rare {source="GARD:0010841"} +subset: gard_rare {source="GARD:10841"} subset: ordo_malformation_syndrome {source="Orphanet:251043"} synonym: "chromosome 5 ring" RELATED [GARD:0010841] synonym: "R5" RELATED ABBREVIATION [GARD:0010841] @@ -326638,6 +339020,7 @@ synonym: "Ring 5" RELATED [GARD:0010841] synonym: "Ring chromosome 5 syndrome" RELATED [Orphanet:251043] synonym: "Ring chromosome type 5" EXACT [MONDORULE:1, Orphanet:251043] synonym: "rose cluster 5" EXACT [NCIT:C121984] +xref: GARD:10841 {source="Orphanet:251043"} xref: ICD10CM:Q93.2 {source="Orphanet:251043", source="Orphanet:251043/attributed", source="Orphanet:251043/ntbt"} xref: NCIT:C121984 {source="MONDO:equivalentTo"} xref: Orphanet:251043 {source="MONDO:equivalentTo"} @@ -326651,9 +339034,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10841/ring-c id: MONDO:0016655 name: 6p22 microdeletion syndrome def: "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." [Orphanet:251046] +subset: gard_rare {source="GARD:20691"} subset: ordo_malformation_syndrome {source="Orphanet:251046"} synonym: "Del(6)(p22)" EXACT [Orphanet:251046] synonym: "monosomy 6p22" EXACT [Orphanet:251046] +xref: GARD:20691 {source="Orphanet:251046"} xref: ICD10CM:Q93.5 {source="Orphanet:251046", source="Orphanet:251046/attributed", source="Orphanet:251046/ntbt"} xref: Orphanet:251046 {source="MONDO:equivalentTo"} xref: SCTID:719662000 {source="MONDO:equivalentTo"} @@ -326667,9 +339052,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016656 name: 7q31 microdeletion syndrome +subset: gard_rare {source="GARD:20692"} subset: ordo_malformation_syndrome {source="Orphanet:251061"} synonym: "Del(7)(q31)" EXACT [Orphanet:251061] synonym: "monosomy 7q31" EXACT [Orphanet:251061] +xref: GARD:20692 {source="Orphanet:251061"} xref: ICD10CM:Q93.5 {source="Orphanet:251061/attributed", source="Orphanet:251061/ntbt", source="Orphanet:251061"} xref: Orphanet:251061 {source="MONDO:equivalentTo"} xref: UMLS:CN201886 {source="MONDO:equivalentTo"} @@ -326682,9 +339069,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016657 name: 8p11.2 deletion syndrome def: "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." [Orphanet:251066] +subset: gard_rare {source="GARD:20693"} subset: ordo_malformation_syndrome {source="Orphanet:251066"} synonym: "Del(8)(p11.2)" EXACT [Orphanet:251066] synonym: "monosomy 8p11.2" EXACT [Orphanet:251066] +xref: GARD:20693 {source="Orphanet:251066"} xref: ICD10CM:Q93.5 {source="Orphanet:251066/attributed", source="Orphanet:251066/ntbt", source="Orphanet:251066"} xref: Orphanet:251066 {source="MONDO:equivalentTo"} xref: SCTID:719646006 {source="MONDO:equivalentTo"} @@ -326699,6 +339088,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016658 name: 8p23.1 microdeletion syndrome def: "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." [Orphanet:251071] +subset: gard_rare {source="GARD:3769"} subset: ordo_malformation_syndrome {source="Orphanet:251071"} synonym: "8p23.1 deletion" RELATED [GARD:0003769] synonym: "chromosome 8p23.1 deletion" RELATED [GARD:0003769] @@ -326706,6 +339096,7 @@ synonym: "Del(8)(p23.1)" EXACT [Orphanet:251071] synonym: "deletion 8p23.1" RELATED [GARD:0003769] synonym: "monosomy 8p23.1" EXACT [Orphanet:251071] xref: DECIPHER:39 {source="MONDO:equivalentTo"} +xref: GARD:3769 {source="Orphanet:251071"} xref: ICD10CM:Q93.5 {source="Orphanet:251071/attributed", source="Orphanet:251071/ntbt", source="Orphanet:251071"} xref: MESH:C537827 {source="MONDO:equivalentTo"} xref: Orphanet:251071 {source="MONDO:equivalentTo"} @@ -326722,11 +339113,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016659 name: 8p23.1 duplication syndrome def: "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." [Orphanet:251076] -subset: gard_rare {source="GARD:0010304"} +subset: gard_rare {source="GARD:10304"} subset: ordo_malformation_syndrome {source="Orphanet:251076"} synonym: "dup(8)(p23.1p23.1)" EXACT [Orphanet:251076] synonym: "trisomy 8p23.1" EXACT [Orphanet:251076] xref: DECIPHER:85 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} +xref: GARD:10304 {source="Orphanet:251076"} xref: Orphanet:251076 {source="MONDO:equivalentTo"} xref: SCTID:765140006 {source="MONDO:equivalentTo"} xref: UMLS:CN201889 {source="MONDO:equivalentTo"} @@ -326742,7 +339134,7 @@ id: MONDO:0016660 name: autosomal recessive primary microcephaly def: "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." [Orphanet:2512] subset: clingen -subset: gard_rare {source="GARD:0012117"} +subset: gard_rare {source="GARD:12117"} subset: ordo_etiological_subtype {source="Orphanet:2512"} synonym: "MCPH" EXACT ABBREVIATION [Orphanet:2512] synonym: "microcephalia vera" EXACT [Orphanet:2512] @@ -326751,6 +339143,7 @@ synonym: "microcephaly, primary autosomal recessive" EXACT [OMIMPS:251200] synonym: "microcephaly, primary, autosomal recessive" EXACT [MONDO:0000061] synonym: "true microcephaly" BROAD [Orphanet:2512] xref: DOID:0070296 {source="MONDO:equivalentTo"} +xref: GARD:12117 {source="Orphanet:2512"} xref: ICD10CM:Q02 {source="Orphanet:2512", source="Orphanet:2512/attributed", source="Orphanet:2512/ntbt"} xref: MESH:C579935 {source="MONDO:equivalentTo"} xref: OMIMPS:251200 {source="MONDO:equivalentTo"} @@ -326767,7 +339160,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12117/autoso [Term] id: MONDO:0016661 name: infantile onset panniculitis with uveitis and systemic granulomatosis +subset: gard_rare {source="GARD:20694"} subset: ordo_disease {source="Orphanet:251304"} +xref: GARD:20694 {source="Orphanet:251304"} xref: ICD10CM:M08.8 {source="Orphanet:251304", source="Orphanet:251304/ntbt"} xref: Orphanet:251304 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 ! autoinflammatory syndrome @@ -326777,8 +339172,10 @@ relationship: has_characteristic HP:0003593 ! Infantile onset id: MONDO:0016662 name: idiopathic recurrent pericarditis def: "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." [Orphanet:251307] +subset: gard_rare {source="GARD:20695"} subset: ordo_disease {source="Orphanet:251307"} synonym: "idiopathic relapsing pericarditis" EXACT [Orphanet:251307] +xref: GARD:20695 {source="Orphanet:251307"} xref: ICD10CM:I09.2 {source="MONDO:relatedTo", source="Orphanet:251307/ntbt", source="Orphanet:251307"} xref: Orphanet:251307 {source="MONDO:equivalentTo"} xref: SCTID:766704005 {source="MONDO:equivalentTo"} @@ -326789,7 +339186,9 @@ relationship: has_characteristic MONDO:0700005 {source="Orphanet:251307"} ! idio id: MONDO:0016663 name: overlapping connective tissue disease subset: disease_grouping +subset: gard_rare {source="GARD:20696"} subset: ordo_group_of_disorders {source="Orphanet:251312"} +xref: GARD:20696 {source="Orphanet:251312"} xref: ICD10CM:M35.1 {source="Orphanet:251312", source="Orphanet:251312/e"} xref: MedDRA:10027754 {source="Orphanet:251312", source="Orphanet:251312/e"} xref: Orphanet:251312 {source="MONDO:equivalentTo"} @@ -326803,9 +339202,11 @@ is_a: MONDO:0007179 {source="Orphanet:251312"} ! autoimmune disease id: MONDO:0016664 name: drug-induced vasculitis def: "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." [NCIT:P378] +subset: gard_rare {source="GARD:20697"} subset: ordo_disease {source="Orphanet:251325"} synonym: "drug induced cutaneous vasculitis" EXACT [NCIT:C112204] synonym: "drug induced vasculitis" EXACT [NCIT:C112204] +xref: GARD:20697 {source="Orphanet:251325"} xref: ICD10CM:M31.8 {source="Orphanet:251325/ntbt", source="Orphanet:251325"} xref: NCIT:C112204 {source="MONDO:equivalentTo"} xref: Orphanet:251325 {source="MONDO:equivalentTo"} @@ -326819,7 +339220,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016665 name: obsolete unclassified vasculitis +subset: gard_rare {source="GARD:20698"} subset: ordo_disease {source="Orphanet:251328"} +xref: GARD:20698 {source="MONDO:obsoleteEquivalent", source="Orphanet:251328"} xref: ICD10CM:M31.8 {source="Orphanet:251328/ntbt", source="Orphanet:251328"} xref: Orphanet:251328 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -326830,7 +339233,9 @@ consider: MONDO:0018882 [Term] id: MONDO:0016666 name: unexplained long-lasting fever/inflammatory syndrome +subset: gard_rare {source="GARD:20699"} subset: ordo_disease {source="Orphanet:251332"} +xref: GARD:20699 {source="Orphanet:251332"} xref: Orphanet:251332 {source="MONDO:equivalentTo"} xref: UMLS:CN201905 {source="MONDO:equivalentTo"} is_a: MONDO:0005554 {source="Orphanet:251332"} ! rheumatic disorder @@ -326839,7 +339244,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016667 name: obsolete sickle cell disease associated with an other hemoglobin anomaly +subset: gard_rare {source="GARD:12459"} synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355] +xref: GARD:12459 {source="MONDO:obsoleteEquivalent", source="Orphanet:251355"} xref: ICD10CM:D57.2 {source="Orphanet:251355", source="Orphanet:251355/specific", source="Orphanet:251355/e"} xref: Orphanet:251355 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201907 {source="MONDO:obsoleteEquivalent"} @@ -326854,7 +339261,7 @@ is_obsolete: true id: MONDO:0016668 name: sickle cell-beta-thalassemia disease syndrome def: "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." [GARD:0010333] -subset: gard_rare +subset: gard_rare {source="GARD:10333"} subset: ordo_disease {source="Orphanet:251359"} synonym: "Haemoglobin sickle-beta thalassemia" RELATED OMO:0003005 [] synonym: "Hb S beta-thalassemia" RELATED [GARD:0010333] @@ -326868,6 +339275,7 @@ synonym: "sickle cell - beta-thalassemia disease" RELATED [GARD:0010333] synonym: "sickle cell-Beta thalassemia" EXACT [NCIT:C95539] synonym: "sickle cell-Beta-thalassemia" EXACT [NCIT:C95539] synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333] +xref: GARD:10333 {source="Orphanet:251359"} xref: ICD10CM:D57.2 {source="Orphanet:251359/inclusion", source="Orphanet:251359", source="Orphanet:251359/ntbt"} xref: MedDRA:10040655 {source="Orphanet:251359/e", source="Orphanet:251359"} xref: MedDRA:10055579 {source="Orphanet:251359/e", source="Orphanet:251359"} @@ -326888,10 +339296,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10333/sickle id: MONDO:0016669 name: sickle cell-hemoglobin c disease syndrome def: "A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis." [Orphanet:251365] +subset: gard_rare {source="GARD:6584"} subset: ordo_disease {source="Orphanet:251365"} synonym: "HbSC disease" EXACT [Orphanet:251365] synonym: "sickle cell - haemoglobin C disease" RELATED OMO:0003005 [] synonym: "sickle cell - hemoglobin C disease" RELATED [GARD:0006584] +xref: GARD:6584 {source="Orphanet:251365"} xref: ICD10CM:D57.2 {source="Orphanet:251365/inclusion", source="Orphanet:251365", source="Orphanet:251365/ntbt"} xref: MedDRA:10057072 {source="Orphanet:251365", source="Orphanet:251365/e"} xref: Orphanet:251365 {source="MONDO:equivalentTo"} @@ -326906,10 +339316,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016670 name: sickle cell-hemoglobin d disease syndrome def: "A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln." [Orphanet:251370] +subset: gard_rare {source="GARD:12458"} subset: ordo_disease {source="Orphanet:251370"} synonym: "HbSD disease" EXACT [Orphanet:251370] synonym: "sickle cell - haemoglobin D disease" RELATED OMO:0003005 [] synonym: "sickle cell - hemoglobin D disease" RELATED [GARD:0012458] +xref: GARD:12458 {source="Orphanet:251370"} xref: ICD10CM:D57.2 {source="Orphanet:251370", source="Orphanet:251370/ntbt", source="Orphanet:251370/inclusion"} xref: MedDRA:10056724 {source="Orphanet:251370", source="Orphanet:251370/e"} xref: Orphanet:251370 {source="MONDO:equivalentTo"} @@ -326925,8 +339337,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016671 name: sickle cell-hemoglobin E disease syndrome def: "A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)." [Orphanet:251375] +subset: gard_rare {source="GARD:20700"} subset: ordo_disease {source="Orphanet:251375"} synonym: "HbSE disease" EXACT [Orphanet:251375] +xref: GARD:20700 {source="Orphanet:251375"} xref: ICD10CM:D57.2 {source="Orphanet:251375/ntbt", source="Orphanet:251375/inclusion", source="Orphanet:251375"} xref: Orphanet:251375 {source="MONDO:equivalentTo"} xref: UMLS:C0272085 {source="MONDO:equivalentObsolete", source="Orphanet:251375", source="Orphanet:251375/e"} @@ -326939,8 +339353,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016672 name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome def: "A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF." [Orphanet:251380] +subset: gard_rare {source="GARD:18648"} subset: ordo_disease {source="Orphanet:251380"} synonym: "HPFH-sickle cell disease syndrome" EXACT [Orphanet:251380] +xref: GARD:18648 {source="Orphanet:251380"} xref: HGNC:3627 {source="Orphanet:251380/btnt", source="Orphanet:251380"} xref: HGNC:5153 {source="Orphanet:251380/btnt", source="Orphanet:251380"} xref: ICD10CM:D57.2 {source="Orphanet:251380/attributed", source="Orphanet:251380/ntbt", source="Orphanet:251380"} @@ -326960,9 +339376,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016673 name: localized junctional epidermolysis bullosa, non-Herlitz type def: "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." [Orphanet:251393] -subset: gard_rare {source="GARD:0012923"} +subset: gard_rare {source="GARD:12923"} subset: ordo_clinical_subtype {source="Orphanet:251393"} synonym: "JEB-nH loc" EXACT [Orphanet:251393] +xref: GARD:12923 {source="Orphanet:251393"} xref: ICD10CM:Q81.8 {source="Orphanet:251393", source="Orphanet:251393/attributed", source="Orphanet:251393/ntbt"} xref: Orphanet:251393 {source="MONDO:equivalentTo"} xref: UMLS:CN201914 {source="MONDO:equivalentTo"} @@ -326975,9 +339392,11 @@ id: MONDO:0016674 name: 46,XY partial gonadal dysgenesis def: "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." [Orphanet:251510] comment: Editor note: todo - make disjoint with complete form (some classes inherit from both) +subset: gard_rare {source="GARD:17211"} subset: ordo_malformation_syndrome {source="Orphanet:251510"} synonym: "46,XY partial testicular dysgenesis" EXACT [Orphanet:251510] synonym: "46,XY PGD" EXACT [Orphanet:251510] +xref: GARD:17211 {source="Orphanet:251510"} xref: ICD10CM:Q56.1 {source="Orphanet:251510", source="Orphanet:251510/attributed", source="Orphanet:251510/ntbt"} xref: Orphanet:251510 {source="MONDO:equivalentTo"} xref: SCTID:725045004 {source="MONDO:equivalentTo"} @@ -326994,6 +339413,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016675 name: distal arthrogryposis type 10 +subset: gard_rare {source="GARD:17212"} subset: ordo_malformation_syndrome {source="Orphanet:251515"} synonym: "arthrogryposis, distal, type 10" RELATED [MONDO:Lexical, OMIM:187370] synonym: "congenital plantar contractures" RELATED [OMIM:187370] @@ -327004,6 +339424,7 @@ synonym: "short Achilles tendon" EXACT [Orphanet:251515] synonym: "short tendo calcaneus" EXACT [Orphanet:251515] synonym: "tendo calcaneus, short" RELATED [OMIM:187370] xref: DOID:0111593 {source="MONDO:equivalentTo"} +xref: GARD:17212 {source="Orphanet:251515"} xref: ICD10CM:Q68.8 {source="Orphanet:251515/attributed", source="Orphanet:251515/ntbt", source="Orphanet:251515"} xref: MESH:C566069 {source="MONDO:equivalentTo"} xref: OMIM:187370 {source="MONDO:equivalentTo", source="Orphanet:251515/ntbt", source="Orphanet:251515"} @@ -327016,8 +339437,10 @@ is_a: MONDO:0019942 {source="DC-OMIM:187370", source="Orphanet:251515"} ! distal id: MONDO:0016676 name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome def: "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." [Orphanet:251523] +subset: gard_rare {source="GARD:17213"} subset: ordo_disease {source="Orphanet:251523"} synonym: "hyperzincemia and hypercalprotectinemia" EXACT [Orphanet:251523] +xref: GARD:17213 {source="Orphanet:251523"} xref: ICD10CM:E83.2 {source="Orphanet:251523/attributed", source="Orphanet:251523/ntbt", source="Orphanet:251523"} xref: Orphanet:251523 {source="MONDO:equivalentTo"} xref: UMLS:C1860229 {source="MONDO:equivalentTo", source="Orphanet:251523"} @@ -327030,7 +339453,9 @@ id: MONDO:0016677 name: toxic or drug-related embryofetopathy def: "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." [MESH:D000014] subset: disease_grouping +subset: gard_rare {source="GARD:20701"} subset: ordo_group_of_disorders {source="Orphanet:251529"} +xref: GARD:20701 {source="Orphanet:251529"} xref: MESH:D000014 {source="MONDO:equivalentTo"} xref: Orphanet:251529 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect during embryogenesis @@ -327038,6 +339463,8 @@ is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect du [Term] id: MONDO:0016678 name: obsolete maternal disease-related embryofetopathy +subset: gard_rare {source="GARD:20702"} +xref: GARD:20702 {source="MONDO:obsoleteEquivalent", source="Orphanet:251535"} xref: Orphanet:251535 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201921 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -327050,8 +339477,10 @@ id: MONDO:0016679 name: obsolete rare tumor of neuroepithelial tissue def: "OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:20703"} subset: ordo_group_of_disorders {source="Orphanet:251558"} synonym: "rare neuroepithelial neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:20703 {source="MONDO:obsoleteEquivalent", source="Orphanet:251558"} xref: Orphanet:251558 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0206715 {source="Orphanet:251558/e", source="Orphanet:251558"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -327063,6 +339492,7 @@ id: MONDO:0016680 name: high grade astrocytic tumor def: "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." [NCIT:C102897] subset: disease_grouping +subset: gard_rare {source="GARD:20704"} subset: ordo_group_of_disorders {source="Orphanet:251561"} synonym: "high grade astrocytic neoplasm" EXACT [NCIT:C102897] synonym: "high grade astrocytic tumor" EXACT [NCIT:C102897] @@ -327070,6 +339500,7 @@ synonym: "high-grade astrocytic neoplasm" EXACT [NCIT:C102897] synonym: "high-grade astrocytic tumor" EXACT [NCIT:C102897] synonym: "high-grade astrocytic tumour" EXACT OMO:0003005 [] synonym: "high-grade astrocytoma" RELATED [Orphanet:251561] +xref: GARD:20704 {source="Orphanet:251561"} xref: NCIT:C102897 {source="MONDO:equivalentTo"} xref: Orphanet:251561 {source="MONDO:equivalentTo"} xref: UMLS:C3640999 {source="MONDO:equivalentTo", source="NCIT:C102897"} @@ -327080,7 +339511,7 @@ is_a: MONDO:0100342 {source="NCIT:C102897", source="Orphanet:251561/inferred"} ! id: MONDO:0016681 name: gliosarcoma def: "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." [NCIT:C3796] -subset: gard_rare {source="GARD:0005653"} +subset: gard_rare {source="GARD:5653"} subset: ordo_histopathological_subtype {source="Orphanet:251576"} synonym: "glioblastoma with a sarcomatous component" EXACT [NCIT:C3796] synonym: "glioblastoma with sarcomatous component" EXACT [DOID:3071] @@ -327088,6 +339519,7 @@ synonym: "gliosarcoma" EXACT [NCIT:C3796] synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653] xref: DOID:3071 {source="MONDO:equivalentTo"} xref: EFO:1001465 {source="MONDO:equivalentTo"} +xref: GARD:5653 {source="Orphanet:251576"} xref: ICD10CM:G71.9 {source="Orphanet:251576", source="Orphanet:251576/ntbt"} xref: ICDO:9442/3 {source="NCIT:C3796"} xref: MedDRA:10018340 {source="Orphanet:251576", source="Orphanet:251576/e"} @@ -327107,10 +339539,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5653/gliosar id: MONDO:0016682 name: giant cell glioblastoma def: "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" [NCIT:C4325] +subset: gard_rare {source="GARD:20705"} subset: ordo_histopathological_subtype {source="Orphanet:251579"} synonym: "Monstrocellular sarcoma" EXACT [DOID:3074] synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074] xref: DOID:3074 {source="MONDO:equivalentTo"} +xref: GARD:20705 {source="Orphanet:251579"} xref: ICD10CM:C71.9 {source="Orphanet:251579", source="Orphanet:251579/ntbt"} xref: ICDO:9441/3 {source="NCIT:C4325"} xref: MESH:D005909 {source="DOID:3074"} @@ -327126,13 +339560,14 @@ is_a: MONDO:0018177 {source="DOID:3074", source="MONDO:Redundant", source="NCIT: id: MONDO:0016683 name: gliomatosis cerebri def: "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" [NCIT:C4318] -subset: gard_rare {source="GARD:0006514"} +subset: gard_rare {source="GARD:6514"} subset: ordo_disease {source="Orphanet:251582"} synonym: "astrocytosis cerebri" EXACT [DOID:6128, NCIT:C4318] synonym: "gliomatosis" EXACT [NCIT:C4318] synonym: "gliomatosis cerebri" EXACT [NCIT:C4318] synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128] xref: DOID:6128 {source="MONDO:equivalentTo"} +xref: GARD:6514 {source="Orphanet:251582"} xref: ICD10CM:C71.0 {source="Orphanet:251582", source="Orphanet:251582/ntbt"} xref: ICDO:9381/3 {source="NCIT:C4318"} xref: MedDRA:10066254 {source="Orphanet:251582", source="Orphanet:251582/e"} @@ -327149,6 +339584,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6514/gliomat id: MONDO:0016684 name: anaplastic astrocytoma def: "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." [Orphanet:251589] +subset: gard_rare {source="GARD:5860"} subset: ordo_disease {source="Orphanet:251589"} synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477] synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477] @@ -327160,6 +339596,7 @@ synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C9477] synonym: "malignant astrocytoma" EXACT [NCIT:C9477] xref: DOID:3078 {source="MONDO:equivalentTo"} xref: EFO:0002499 {source="MONDO:equivalentTo"} +xref: GARD:5860 {source="Orphanet:251589"} xref: ICD10CM:C71.9 {source="Orphanet:251589/ntbt", source="Orphanet:251589"} xref: ICDO:9401/3 {source="NCIT:C9477"} xref: MedDRA:10002224 {source="Orphanet:251589/e", source="Orphanet:251589"} @@ -327179,7 +339616,9 @@ intersection_of: has_characteristic PATO:0002092 ! anaplastic id: MONDO:0016685 name: low-grade astrocytoma subset: disease_grouping +subset: gard_rare {source="GARD:20706"} subset: ordo_group_of_disorders {source="Orphanet:251592"} +xref: GARD:20706 {source="Orphanet:251592"} xref: MedDRA:10065869 {source="Orphanet:251592", source="Orphanet:251592/e"} xref: Orphanet:251592 {source="MONDO:equivalentTo"} xref: UMLS:C1314694 {source="Orphanet:251592", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251592/e"} @@ -327191,6 +339630,7 @@ intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general id: MONDO:0016686 name: diffuse astrocytoma def: "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." [NCIT:C7173] +subset: gard_rare {source="GARD:5907"} subset: ordo_disease {source="Orphanet:251595"} synonym: "astrocytoma, diffuse" EXACT [NCIT:C7173] synonym: "astrocytoma, diffuse, malignant" EXACT [NCIT:C7173] @@ -327206,6 +339646,7 @@ synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907] synonym: "protoplasmic astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173] xref: DOID:4857 {source="MONDO:equivalentTo"} +xref: GARD:5907 {source="Orphanet:251595"} xref: ICD10CM:C71.9 {source="Orphanet:251595/ntbt", source="Orphanet:251595"} xref: NCIT:C7173 {source="MONDO:equivalentTo"} xref: ONCOTREE:DASTR {source="MONDO:equivalentTo"} @@ -327220,12 +339661,14 @@ relationship: has_characteristic MONDO:0024492 ! tumor grade 2, general grading id: MONDO:0016687 name: protoplasmic astrocytoma def: "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" [NCIT:C4320] +subset: gard_rare {source="GARD:20707"} subset: ordo_histopathological_subtype {source="Orphanet:251598"} synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320] synonym: "protoplasmic astrocytic tumour" EXACT OMO:0003005 [] synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320] synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008] xref: DOID:7008 {source="MONDO:equivalentTo"} +xref: GARD:20707 {source="Orphanet:251598"} xref: ICD10CM:C71.9 {source="Orphanet:251598", source="Orphanet:251598/ntbt"} xref: ICDO:9410/3 {source="NCIT:C4320"} xref: MESH:D001254 {source="DOID:7008"} @@ -327239,12 +339682,14 @@ is_a: MONDO:0016686 {source="NCIT:C4320", source="Orphanet:251598"} ! diffuse as id: MONDO:0016688 name: fibrillary astrocytoma def: "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" [NCIT:C4322] +subset: gard_rare {source="GARD:20708"} subset: ordo_histopathological_subtype {source="Orphanet:251601"} synonym: "diffuse astrocytoma" RELATED EXCLUDE [DOID:6726] synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322] synonym: "fibrillary astrocytic tumours" EXACT OMO:0003005 [] synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322] xref: DOID:6726 {source="MONDO:equivalentTo"} +xref: GARD:20708 {source="Orphanet:251601"} xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"} xref: ICDO:9420/3 {source="NCIT:C4322"} xref: MedDRA:10065889 {source="Orphanet:251601/e", source="Orphanet:251601"} @@ -327260,6 +339705,7 @@ is_a: MONDO:0016686 {source="NCIT:C4322", source="Orphanet:251601"} ! diffuse as id: MONDO:0016689 name: gemistocytic astrocytoma def: "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" [NCIT:C4321] +subset: gard_rare {source="GARD:20709"} subset: ordo_histopathological_subtype {source="Orphanet:251604"} synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005, NCIT:C4321] synonym: "gemistocytic astrocytic tumour" EXACT OMO:0003005 [] @@ -327267,6 +339713,7 @@ synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321] synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005] synonym: "Gemistocytoma" EXACT [NCIT:C4321] xref: DOID:7005 {source="MONDO:equivalentTo"} +xref: GARD:20709 {source="Orphanet:251604"} xref: ICD10CM:C71.9 {source="Orphanet:251604/ntbt", source="Orphanet:251604"} xref: ICDO:9411/3 {source="NCIT:C4321"} xref: MESH:D001254 {source="DOID:7005"} @@ -327280,11 +339727,12 @@ is_a: MONDO:0016686 {source="NCIT:C4321", source="Orphanet:251604"} ! diffuse as id: MONDO:0016690 name: pleomorphic xanthoastrocytoma def: "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." [NCIT:C4323] -subset: gard_rare {source="GARD:0010631"} +subset: gard_rare {source="GARD:10631"} subset: ordo_disease {source="Orphanet:251607"} synonym: "pleomorphic Xantho-astrocytoma" EXACT [DOID:4852, NCIT:C4323] synonym: "PXA" EXACT ABBREVIATION [ONCOTREE:PXA, Orphanet:251607] xref: DOID:4852 {source="MONDO:equivalentTo"} +xref: GARD:10631 {source="Orphanet:251607"} xref: ICD10CM:C71.9 {source="Orphanet:251607"} xref: ICD10CM:C79.1 {source="Orphanet:251607/ntbt"} xref: ICDO:9424/3 {source="NCIT:C4323"} @@ -327302,6 +339750,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10631/pleomo id: MONDO:0016691 name: pilocytic astrocytoma def: "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported." [Orphanet:251612] +subset: gard_rare {source="GARD:9808"} subset: ordo_disease {source="Orphanet:251612"} synonym: "astrocytoma, benign" EXACT [NCIT:C4047] synonym: "astrocytoma, pilocytic, benign" EXACT [NCIT:C4047] @@ -327312,6 +339761,7 @@ synonym: "grade I astrocytoma" EXACT [NCIT:C4047] synonym: "pilocytic astrocytoma" EXACT [NCIT:C4047] synonym: "Piloid astrocytoma" EXACT [DOID:4851] xref: DOID:4851 {source="MONDO:equivalentTo"} +xref: GARD:9808 {source="Orphanet:251612"} xref: ICD10CM:C71.9 {source="Orphanet:251612"} xref: ICD10CM:C79.1 {source="Orphanet:251612/ntbt"} xref: ICDO:9421/1 {source="NCIT:C4047"} @@ -327334,9 +339784,11 @@ id: MONDO:0016692 name: pilomyxoid astrocytoma def: "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." [NCIT:C40315] comment: The superclass assertion of pilocytic astrocytoma is not supported by NCIT. +subset: gard_rare {source="GARD:20710"} subset: ordo_histopathological_subtype {source="Orphanet:251615"} synonym: "PMA" RELATED ABBREVIATION [ONCOTREE:PMA] xref: DOID:4845 {source="MONDO:equivalentTo"} +xref: GARD:20710 {source="Orphanet:251615"} xref: ICD10CM:C71.9 {source="Orphanet:251615/ntbt", source="Orphanet:251615"} xref: ICDO:9425/3 {source="NCIT:C40315"} xref: NCIT:C40315 {source="MONDO:equivalentTo", source="DOID:4845", source="MONDO:exact-label-match"} @@ -327351,7 +339803,7 @@ is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C40315"} ! astrocyto id: MONDO:0016693 name: subependymal giant cell astrocytoma def: "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" [NCIT:C3696] -subset: gard_rare {source="GARD:0010632"} +subset: gard_rare {source="GARD:10632"} subset: ordo_disease {source="Orphanet:251618"} synonym: "SEGA" EXACT ABBREVIATION [DOID:5077, NCIT:C3696, Orphanet:251618] synonym: "subependymal giant cell astrocytic neoplasm" EXACT [NCIT:C3696] @@ -327359,6 +339811,7 @@ synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696] synonym: "subependymal giant cell astrocytic tumour" EXACT OMO:0003005 [] synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077] xref: DOID:5077 {source="MONDO:equivalentTo"} +xref: GARD:10632 {source="Orphanet:251618"} xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"} xref: ICDO:9384/1 {source="NCIT:C3696"} xref: MESH:D001254 {source="DOID:5077"} @@ -327381,6 +339834,7 @@ replaced_by: MONDO:0006372 id: MONDO:0016695 name: oligodendroglioma def: "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" [NCIT:C3288] +subset: gard_rare {source="GARD:9953"} subset: ordo_disease {source="Orphanet:251627"} synonym: "oligodendroglial neoplasm" BROAD [DOID:3181] synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960] @@ -327394,6 +339848,7 @@ synonym: "WHO grade II oligodendroglial neoplasm" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:3181 {source="MONDO:equivalentTo"} +xref: GARD:9953 {source="Orphanet:251627"} xref: ICD10CM:C71.9 {source="Orphanet:251627"} xref: ICD10CM:C79.1 {source="Orphanet:251627/ntbt"} xref: ICDO:9450/3 {source="NCIT:C3288"} @@ -327415,7 +339870,7 @@ intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general gradi id: MONDO:0016696 name: anaplastic oligodendroglioma def: "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." [NCIT:C4326] -subset: gard_rare {source="GARD:0009472"} +subset: gard_rare {source="GARD:9472"} subset: ordo_disease {source="Orphanet:251630"} synonym: "anaplastic oligodendroglioma" EXACT [NCIT:C4326] synonym: "malignant oligodendroglioma" EXACT [NCIT:C4326] @@ -327427,6 +339882,7 @@ synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:7154 {source="MONDO:equivalentTo"} xref: EFO:0002501 {source="MONDO:equivalentTo"} +xref: GARD:9472 {source="Orphanet:251630"} xref: ICD10CM:C71.9 {source="Orphanet:251630"} xref: ICD10CM:C79.1 {source="Orphanet:251630/ntbt"} xref: ICDO:9451/3 {source="NCIT:C4326"} @@ -327458,6 +339914,7 @@ intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general gradi id: MONDO:0016698 name: ependymoma def: "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" [NCIT:C3017] +subset: gard_rare {source="GARD:6353"} subset: ordo_histopathological_subtype {source="Orphanet:251636"} synonym: "benign ependymoma" EXACT [DOID:4844, MONDO:0003161] synonym: "clear cell ependymoma (histologic variant)" RELATED [GARD:0006353] @@ -327472,6 +339929,7 @@ synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017] synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017] synonym: "WHO grade II ependymal tumour" NARROW OMO:0003005 [] xref: DOID:4844 {source="MONDO:equivalentTo"} +xref: GARD:6353 {source="Orphanet:251636"} xref: ICD10CM:D43.2 {source="Orphanet:251636/ntbt", source="Orphanet:251636"} xref: ICDO:9391/3 {source="NCIT:C3017"} xref: MedDRA:10014967 {source="Orphanet:251636/e", source="Orphanet:251636"} @@ -327496,12 +339954,13 @@ relationship: excluded_subClassOf MONDO:0016697 ! low grade ependymoma id: MONDO:0016699 name: myxopapillary ependymoma def: "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." [Orphanet:251643] -subset: gard_rare {source="GARD:0010633"} +subset: gard_rare {source="GARD:10633"} subset: ordo_histopathological_subtype {source="Orphanet:251643"} synonym: "ependymoma, benign" EXACT [NCIT:C3697] synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697] synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075] xref: DOID:5075 {source="MONDO:equivalentTo"} +xref: GARD:10633 {source="Orphanet:251643"} xref: ICD10CM:D43.2 {source="Orphanet:251643", source="Orphanet:251643/ntbt"} xref: ICDO:9394/1 {source="NCIT:C3697"} xref: MESH:D004806 {source="DOID:5075", source="MONDO:directSiblingOf"} @@ -327517,7 +339976,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10633/myxopa id: MONDO:0016700 name: anaplastic ependymoma def: "Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking." [Orphanet:251646] -subset: gard_rare {source="GARD:0010634"} +subset: gard_rare {source="GARD:10634"} subset: ordo_disease {source="Orphanet:251646"} synonym: "anaplastic ependymal neoplasm" EXACT [NCIT:C4049] synonym: "anaplastic ependymal tumor" EXACT [NCIT:C4049] @@ -327539,6 +339998,7 @@ synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal tumour" EXACT OMO:0003005 [] xref: DOID:5074 {source="MONDO:equivalentTo"} xref: DOID:5889 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:10634 {source="Orphanet:251646"} xref: ICD10CM:C71.9 {source="Orphanet:251646/ntbt", source="Orphanet:251646"} xref: ICDO:9392/3 {source="NCIT:C4049"} xref: MedDRA:10014968 {source="Orphanet:251646/e", source="Orphanet:251646"} @@ -327559,8 +340019,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10634/anapla [Term] id: MONDO:0016701 name: obsolete oligoastrocytic tumor +subset: gard_rare {source="GARD:20712"} synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651] synonym: "mixed oligodendroglial and astrocytic tumour" EXACT OMO:0003005 [] +xref: GARD:20712 {source="MONDO:obsoleteEquivalent", source="Orphanet:251651"} xref: Orphanet:251651 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0280793 {source="Orphanet:251651"} xref: UMLS:CN201945 {source="MONDO:obsoleteEquivalent"} @@ -327574,7 +340036,7 @@ is_obsolete: true id: MONDO:0016702 name: oligoastrocytoma def: "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" [NCIT:C4050] -subset: gard_rare {source="GARD:0009769"} +subset: gard_rare {source="GARD:9769"} subset: ordo_disease {source="Orphanet:251656"} synonym: "glioma, mixed, benign" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial neoplasm" EXACT [NCIT:C4050] @@ -327589,6 +340051,7 @@ synonym: "oligoastrocytoma" EXACT [NCIT:C4050] synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050] xref: DOID:7912 {source="MONDO:equivalentTo"} xref: EFO:0000630 {source="MONDO:equivalentTo"} +xref: GARD:9769 {source="Orphanet:251656"} xref: ICD10CM:C71.9 {source="Orphanet:251656", source="Orphanet:251656/ntbt"} xref: MedDRA:10027744 {source="Orphanet:251656/e", source="Orphanet:251656"} xref: MESH:D009837 {source="DOID:7912", source="MONDO:directSiblingOf"} @@ -327606,7 +340069,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9769/oligoas id: MONDO:0016703 name: anaplastic oligoastrocytoma def: "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." [NCIT:C6959] -subset: gard_rare {source="GARD:0010637"} +subset: gard_rare {source="GARD:10637"} subset: ordo_disease {source="Orphanet:251663"} synonym: "aMOA" EXACT [Orphanet:251663] synonym: "anaplastic mixed glioma" EXACT [NCIT:C6959] @@ -327614,6 +340077,7 @@ synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959] synonym: "AOAST" RELATED ABBREVIATION [ONCOTREE:AOAST] synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959] xref: EFO:0002500 {source="MONDO:equivalentTo"} +xref: GARD:10637 {source="Orphanet:251663"} xref: ICD10CM:C71.9 {source="Orphanet:251663", source="Orphanet:251663/ntbt"} xref: NCIT:C6959 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"} @@ -327630,7 +340094,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10637/anapla id: MONDO:0016704 name: obsolete glial tumor of neuroepithelial tissue with unknown origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glioma +subset: gard_rare {source="GARD:20713"} subset: ordo_group_of_disorders {source="Orphanet:251668"} +xref: GARD:20713 {source="MONDO:obsoleteEquivalent", source="Orphanet:251668"} xref: Orphanet:251668 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201948 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -327642,6 +340108,7 @@ consider: MONDO:0021042 id: MONDO:0016705 name: angiocentric glioma def: "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." [Orphanet:251671] +subset: gard_rare {source="GARD:20714"} subset: ordo_disease {source="Orphanet:251671"} synonym: "angiocentric glioma (WHO grade I)" EXACT [NCIT:C92552] synonym: "angiocentric neuroepithelial tumor" EXACT [NCIT:C92552] @@ -327649,6 +340116,7 @@ synonym: "angiocentric neuroepithelial tumour" EXACT OMO:0003005 [] synonym: "ANGL" RELATED ABBREVIATION [ONCOTREE:ANGL] synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552] xref: DOID:0081261 {source="MONDO:equivalentTo"} +xref: GARD:20714 {source="Orphanet:251671"} xref: ICD10CM:C71.9 {source="Orphanet:251671/ntbt", source="Orphanet:251671"} xref: ICDO:9431/1 {source="NCIT:C92552"} xref: NCIT:C92552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -327662,7 +340130,7 @@ is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma id: MONDO:0016706 name: chordoid glioma of the third ventricle def: "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [NCIT:C5592] -subset: gard_rare {source="GARD:0010636"} +subset: gard_rare {source="GARD:20715"} subset: ordo_disease {source="Orphanet:251674"} synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592] synonym: "chordoid glioma (morphologic abnormality)" EXACT [DOID:3774] @@ -327674,6 +340142,7 @@ synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773] synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location] xref: DOID:3773 {source="MONDO:equivalentObsolete", source="MONDO:preferredExternal"} xref: DOID:3774 {source="MONDO:equivalentTo"} +xref: GARD:20715 {source="Orphanet:251674"} xref: ICD10CM:C71.9 {source="Orphanet:251674", source="Orphanet:251674/ntbt"} xref: ICDO:9444/1 {source="NCIT:C5592"} xref: NCIT:C5592 {source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo"} @@ -327693,13 +340162,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10636/chordo id: MONDO:0016707 name: astroblastoma def: "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." [Orphanet:251679] -subset: gard_rare {source="GARD:0010635"} +subset: gard_rare {source="GARD:10635"} subset: ordo_disease {source="Orphanet:251679"} synonym: "AstB" RELATED [ONCOTREE:ASTB] synonym: "astroblastoma" EXACT [NCIT:C4324] synonym: "astroblastoma (morphologic abnormality)" EXACT [DOID:7305] synonym: "cerebral astroblastoma" RELATED [GARD:0010635] xref: DOID:7305 {source="MONDO:equivalentTo"} +xref: GARD:10635 {source="Orphanet:251679"} xref: ICD10CM:C71.9 {source="Orphanet:251679/ntbt", source="Orphanet:251679"} xref: ICDO:9430/3 {source="NCIT:C4324"} xref: MESH:D018302 {source="DOID:7305"} @@ -327715,6 +340185,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10635/astrob [Term] id: MONDO:0016708 name: obsolete embryonal tumor of neuroepithelial tissue +subset: gard_rare {source="GARD:20716"} +xref: GARD:20716 {source="MONDO:obsoleteEquivalent", source="Orphanet:251852"} xref: Orphanet:251852 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201955 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -327727,8 +340199,10 @@ is_obsolete: true id: MONDO:0016709 name: anaplastic/large cell medulloblastoma def: "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." [NCIT:C129436] +subset: gard_rare {source="GARD:20717"} subset: ordo_histopathological_subtype {source="Orphanet:251855"} synonym: "large cell/anaplastic medulloblastoma" EXACT [NCIT:C129436] +xref: GARD:20717 {source="Orphanet:251855"} xref: ICD10CM:C71.6 {source="Orphanet:251855/ntbt", source="Orphanet:251855"} xref: NCIT:C129436 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C6904 {source="ONCOTREE:AMBL"} @@ -327742,12 +340216,14 @@ is_a: MONDO:0007959 {source="NCIT:C129436", source="Orphanet:251855"} ! medullob id: MONDO:0016710 name: medulloblastoma with extensive nodularity def: "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." [Orphanet:251858] +subset: gard_rare {source="GARD:17214"} subset: ordo_histopathological_subtype {source="Orphanet:251858"} synonym: "cerebellar neuroblastoma" EXACT [NCIT:C5407] synonym: "MBEN" EXACT ABBREVIATION [Orphanet:251858] synonym: "medulloblastoma with extensive nodularity" EXACT [NCIT:C5407] synonym: "medulloblastoma with extensive nodularity and advanced neuronal differentiation" EXACT [NCIT:C5407] synonym: "nodular medulloblastoma" RELATED [NCIT:C5407] +xref: GARD:17214 {source="Orphanet:251858"} xref: ICD10CM:C71.6 {source="Orphanet:251858/ntbt", source="Orphanet:251858"} xref: ICDO:9471/3 {source="NCIT:C5407"} xref: NCIT:C5407 {source="MONDO:equivalentTo"} @@ -327762,12 +340238,14 @@ property_value: confidence "2.5133333333333328" xsd:double id: MONDO:0016711 name: desmoplastic/nodular medulloblastoma def: "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." [Orphanet:251863] +subset: gard_rare {source="GARD:17215"} subset: ordo_histopathological_subtype {source="Orphanet:251863"} synonym: "Desmoplastic medulloblastoma" EXACT [NCIT:C4956] synonym: "desmoplastic medulloblastoma" EXACT [MONDO:0005547] synonym: "desmoplastic nodular medulloblastoma" EXACT [NCIT:C4956] synonym: "desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956] xref: EFO:0005699 {source="MONDO:equivalentTo"} +xref: GARD:17215 {source="Orphanet:251863"} xref: ICD10CM:C71.6 {source="Orphanet:251863", source="Orphanet:251863/ntbt"} xref: ICDO:9471/3 {source="NCIT:C4956"} xref: NCIT:C4956 {source="EFO:0005699", source="MONDO:equivalentTo"} @@ -327783,8 +340261,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016712 name: classic medulloblastoma def: "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." [Orphanet:251867] +subset: gard_rare {source="GARD:17216"} subset: ordo_histopathological_subtype {source="Orphanet:251867"} synonym: "classic medulloblastoma" EXACT [NCIT:C54039] +xref: GARD:17216 {source="Orphanet:251867"} xref: ICD10CM:C71.6 {source="Orphanet:251867/ntbt", source="Orphanet:251867"} xref: NCIT:C54039 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:251867 {source="MONDO:equivalentTo"} @@ -327799,12 +340279,14 @@ name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal def: "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." [NCIT:C129537] comment: Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma subset: disease_grouping +subset: gard_rare {source="GARD:20718"} subset: ordo_group_of_disorders {source="Orphanet:251870"} synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C129537] synonym: "central nervous system PNET" BROAD [Orphanet:251870] synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870] synonym: "central nervous system primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "CNS PNET" RELATED [Orphanet:251870] +xref: GARD:20718 {source="Orphanet:251870"} xref: MedDRA:10057846 {source="Orphanet:251870", source="Orphanet:251870/e"} xref: NCIT:C129537 {source="MONDO:equivalentTo"} xref: Orphanet:251870 {source="MONDO:equivalentTo"} @@ -327825,6 +340307,7 @@ replaced_by: MONDO:0005035 id: MONDO:0016715 name: ependymoblastoma def: "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." [Orphanet:251880] +subset: gard_rare {source="GARD:20720"} subset: ordo_disease {source="Orphanet:251880"} synonym: "embryonal tumor with abundant neuropil and true Rosettes" EXACT [NCIT:C4915] synonym: "embryonal tumor with abundant neuropil and true rosettes" RELATED [GARD:0006352] @@ -327844,6 +340327,7 @@ synonym: "neuroectodermal tumors primitive" RELATED [GARD:0006352] synonym: "neuroectodermal tumours primitive" RELATED OMO:0003005 [] xref: DOID:0080903 {source="MONDO:equivalentTo"} xref: DOID:4794 {source="MONDO:equivalentObsolete"} +xref: GARD:20720 {source="Orphanet:251880"} xref: ICD10CM:C71.9 {source="Orphanet:251880/ntbt", source="Orphanet:251880"} xref: MedDRA:10014966 {source="Orphanet:251880", source="Orphanet:251880/e"} xref: MESH:D018242 {source="DOID:4794"} @@ -327870,6 +340354,7 @@ alt_id: MONDO:0021226 def: "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma." [NCIT:C3473] comment: Editor note: see ticket on ncit tracker subset: disease_grouping +subset: gard_rare {source="GARD:20722"} subset: ordo_group_of_disorders {source="Orphanet:251896"} synonym: "choroid plexus neoplasm" EXACT [NCIT:C3473] synonym: "choroid plexus tumor" EXACT [NCIT:C3473] @@ -327880,6 +340365,7 @@ synonym: "tumor of choroid plexus" EXACT [NCIT:C3473] synonym: "tumor of the choroid plexus" EXACT [NCIT:C3473] synonym: "tumour of choroid plexus" EXACT OMO:0003005 [] synonym: "tumour of the choroid plexus" EXACT OMO:0003005 [] +xref: GARD:20722 {source="Orphanet:251896"} xref: NCIT:C3473 {source="MONDO:equivalentTo"} xref: ONCOTREE:CPT {source="MONDO:equivalentTo"} xref: Orphanet:251896 {source="MONDO:equivalentTo"} @@ -327897,6 +340383,7 @@ relationship: disease_has_location UBERON:0004086 {source="NCIT:C3473"} ! brain id: MONDO:0016718 name: choroid plexus carcinoma def: "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" [NCIT:C4715] +subset: gard_rare {source="GARD:8238"} subset: ordo_disease {source="Orphanet:251899"} synonym: "anaplastic choroid plexus papilloma" EXACT [NCIT:C4715] synonym: "cancer of choroid plexus" BROAD [DOID:5648, NCIT:C4715] @@ -327912,6 +340399,7 @@ synonym: "malignant neoplasm of the choroid plexus" BROAD [DOID:5648, NCIT:C4533 synonym: "malignant tumor of choroid plexus" BROAD [DOID:5648] synonym: "malignant tumour of choroid plexus" BROAD OMO:0003005 [] xref: DOID:5648 {source="MONDO:equivalentTo"} +xref: GARD:8238 {source="Orphanet:251899"} xref: ICD10CM:C71.7 {source="Orphanet:251899/ntbt", source="Orphanet:251899"} xref: ICDO:9390/3 {source="NCIT:C4715"} xref: MedDRA:10067478 {source="Orphanet:251899/e", source="Orphanet:251899"} @@ -327937,11 +340425,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016719 name: microcephaly-seizures-intellectual disability-heart disease syndrome def: "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." [Orphanet:2519] +subset: gard_rare {source="GARD:18774"} subset: ordo_malformation_syndrome {source="Orphanet:2519"} synonym: "microcephaly seizures intellectual disability heart disorders" RELATED [GARD:0003632] synonym: "microcephaly seizures mental retardation heart disorders" RELATED DEPRECATED [GARD:0003632] synonym: "microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities" RELATED [GARD:0003632] synonym: "microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" RELATED DEPRECATED [GARD:0003632] +xref: GARD:18774 {source="Orphanet:2519"} xref: ICD10CM:Q87.8 {source="Orphanet:2519/attributed", source="Orphanet:2519/ntbt", source="Orphanet:2519"} xref: MESH:C537544 {source="Orphanet:2519/e", source="MONDO:equivalentTo", source="Orphanet:2519"} xref: Orphanet:2519 {source="MONDO:equivalentTo"} @@ -327960,6 +340450,8 @@ replaced_by: MONDO:0002684 [Term] id: MONDO:0016721 name: obsolete pineal tumor of neuroepithelial tissue +subset: gard_rare {source="GARD:20724"} +xref: GARD:20724 {source="Orphanet:251905", source="MONDO:obsoleteEquivalent"} xref: Orphanet:251905 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201969 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -327973,7 +340465,7 @@ is_obsolete: true id: MONDO:0016722 name: pineoblastoma def: "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." [Orphanet:251909] -subset: gard_rare {source="GARD:0009369"} +subset: gard_rare {source="GARD:9369"} subset: ordo_disease {source="Orphanet:251909"} synonym: "pineal gland PNET" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] @@ -327996,6 +340488,7 @@ synonym: "primitive neuroectodermal tumour of pineal gland" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumour of the pineal gland" EXACT OMO:0003005 [] xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"} xref: EFO:1000475 {source="MONDO:equivalentTo"} +xref: GARD:9369 {source="Orphanet:251909"} xref: ICD10CM:C75.3 {source="Orphanet:251909", source="Orphanet:251909/ntbt"} xref: ICDO:9362/3 {source="NCIT:C9344"} xref: MedDRA:10050487 {source="Orphanet:251909", source="Orphanet:251909/e"} @@ -328013,6 +340506,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9369/pineobl id: MONDO:0016723 name: pineocytoma def: "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." [Orphanet:251912] +subset: gard_rare {source="GARD:8207"} subset: ordo_disease {source="Orphanet:251912"} synonym: "benign pinealoma" EXACT [NCIT:C6966] synonym: "pinealocytoma" EXACT [NCIT:C6966] @@ -328022,6 +340516,7 @@ synonym: "Pineocytoma (WHO grade I)" EXACT [NCIT:C6966] synonym: "pineocytoma, benign" EXACT [NCIT:C6966] xref: DOID:0081248 {source="MONDO:equivalentTo"} xref: EFO:1000476 {source="MONDO:equivalentTo"} +xref: GARD:8207 {source="Orphanet:251912"} xref: HP:0030407 {source="MONDO:otherHierarchy"} xref: ICD10CM:D44.5 {source="Orphanet:251912/ntbt", source="Orphanet:251912"} xref: ICDO:9361/1 {source="NCIT:C6966"} @@ -328041,10 +340536,12 @@ property_value: IAO:0000589 "pineocytoma (disease)" xsd:string id: MONDO:0016724 name: papillary tumor of the pineal region def: "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus." [Orphanet:251915] +subset: gard_rare {source="GARD:20725"} subset: ordo_disease {source="Orphanet:251915"} synonym: "PTPR" EXACT ABBREVIATION [ONCOTREE:PTPR, Orphanet:251915] xref: DOID:0081251 {source="MONDO:equivalentTo"} xref: EFO:1000451 {source="MONDO:equivalentTo"} +xref: GARD:20725 {source="Orphanet:251915"} xref: ICD10CM:D44.5 {source="Orphanet:251915", source="Orphanet:251915/ntbt"} xref: ICDO:9395/3 {source="NCIT:C92624"} xref: NCIT:C92624 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -328057,6 +340554,7 @@ is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C92624", source="ONC [Term] id: MONDO:0016725 name: obsolete pineal parenchymal tumor of intermediate differenciation +xref: GARD:10644 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6505" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI @@ -328067,6 +340565,8 @@ replaced_by: MONDO:0006369 [Term] id: MONDO:0016726 name: obsolete neuronal tumor +subset: gard_rare {source="GARD:20726"} +xref: GARD:20726 {source="MONDO:obsoleteEquivalent", source="Orphanet:251924"} xref: Orphanet:251924 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -328079,10 +340579,12 @@ is_obsolete: true id: MONDO:0016727 name: extraventricular neurocytoma def: "Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior." [Orphanet:251927] +subset: gard_rare {source="GARD:20727"} subset: ordo_disease {source="Orphanet:251927"} synonym: "EVN" EXACT ABBREVIATION [ONCOTREE:EVN, Orphanet:251927] synonym: "extraventricular neurocytoma (WHO grade II)" EXACT [NCIT:C92555] xref: DOID:0081314 {source="MONDO:equivalentTo"} +xref: GARD:20727 {source="Orphanet:251927"} xref: ICDO:9506/1 {source="NCIT:C92555"} xref: NCIT:C92555 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:EVN {source="MONDO:equivalentTo"} @@ -328103,6 +340605,7 @@ id: MONDO:0016729 name: mixed neuronal-glial tumor def: "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" [NCIT:C4747] subset: disease_grouping +subset: gard_rare {source="GARD:20728"} subset: ordo_group_of_disorders {source="Orphanet:251934"} synonym: "neuronal and Glio-neuronal neoplasm" EXACT [NCIT:C4747] synonym: "neuronal and Glio-neuronal tumor" EXACT [NCIT:C4747] @@ -328111,6 +340614,7 @@ synonym: "neuronal and mixed neuronal-glial tumor" EXACT [NCIT:C4747] synonym: "neuronal and mixed neuronal-glial tumors" EXACT [NCIT:C4747] synonym: "neuronal and mixed neuronal-glial tumour" EXACT OMO:0003005 [] synonym: "neuronal and mixed neuronal-glial tumours" EXACT OMO:0003005 [] +xref: GARD:20728 {source="Orphanet:251934"} xref: NCIT:C4747 {source="MONDO:equivalentTo"} xref: Orphanet:251934 {source="MONDO:equivalentTo"} xref: UMLS:C0474844 {source="MONDO:equivalentTo", source="NCIT:C4747"} @@ -328122,10 +340626,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016679"} ! rare id: MONDO:0016730 name: gangliocytoma def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." [NCIT:C6934] -subset: gard_rare {source="GARD:0010638"} +subset: gard_rare {source="GARD:10638"} subset: ordo_disease {source="Orphanet:251937"} synonym: "GNC" RELATED ABBREVIATION [ONCOTREE:GNC] xref: DOID:2426 {source="MONDO:equivalentTo"} +xref: GARD:10638 {source="Orphanet:251937"} xref: ICD10CM:D36.1 {source="Orphanet:251937", source="Orphanet:251937/ntbt"} xref: ICDO:9492/0 {source="NCIT:C6934"} xref: MESH:D005729 {source="MONDO:equivalentTo", source="DOID:2426"} @@ -328147,8 +340652,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10638/gangli id: MONDO:0016731 name: desmoplastic infantile astrocytoma/ganglioglioma def: "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." [Orphanet:251940] +subset: gard_rare {source="GARD:20729"} subset: ordo_disease {source="Orphanet:251940"} synonym: "DIA/DIG" EXACT [Orphanet:251940] +xref: GARD:20729 {source="Orphanet:251940"} xref: Orphanet:251940 {source="MONDO:equivalentTo"} xref: UMLS:CN201979 {source="MONDO:equivalentTo"} is_a: MONDO:0016729 {source="Orphanet:251940"} ! mixed neuronal-glial tumor @@ -328163,7 +340670,7 @@ replaced_by: MONDO:0005505 id: MONDO:0016733 name: ganglioglioma def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" [NCIT:C3788] -subset: gard_rare {source="GARD:0002430"} +subset: gard_rare {source="GARD:2430"} subset: ordo_disease {source="Orphanet:251949"} synonym: "adult ganglioglioma" NARROW [DOID:5078] synonym: "childhood ganglioglioma" NARROW [DOID:5078] @@ -328173,6 +340680,7 @@ synonym: "mixed cell tumors containing both neural ganglionic cells and neural g synonym: "mixed cell tumours containing both neural ganglionic cells and neural glial cell components" RELATED OMO:0003005 [] xref: DOID:5078 {source="MONDO:equivalentTo"} xref: EFO:0003094 {source="MONDO:equivalentTo"} +xref: GARD:2430 {source="Orphanet:251949"} xref: ICDO:9505/1 {source="NCIT:C3788"} xref: MedDRA:10017701 {source="Orphanet:251949", source="Orphanet:251949/e"} xref: MESH:D018303 {source="MONDO:equivalentTo", source="DOID:5078"} @@ -328194,9 +340702,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2430/ganglio id: MONDO:0016734 name: anaplastic ganglioglioma def: "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)" [NCIT:P378] -subset: gard_rare {source="GARD:0010639"} +subset: gard_rare {source="GARD:10639"} subset: ordo_disease {source="Orphanet:251957"} synonym: "AGNG" RELATED ABBREVIATION [ONCOTREE:AGNG] +xref: GARD:10639 {source="Orphanet:251957"} xref: ICDO:9505/3 {source="NCIT:C4717"} xref: NCIT:C4717 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:AGNG {source="MONDO:equivalentTo"} @@ -328212,6 +340721,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10639/anapla id: MONDO:0016735 name: papillary glioneuronal tumor def: "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." [NCIT:P378] +subset: gard_rare {source="GARD:20730"} subset: ordo_disease {source="Orphanet:251962"} synonym: "papillary glioneuronal tumor (WHO grade I)" EXACT [NCIT:C92554] synonym: "papillary glioneuronal tumour (WHO grade I)" EXACT OMO:0003005 [] @@ -328219,6 +340729,7 @@ synonym: "PGNT" EXACT ABBREVIATION [ONCOTREE:PGNT, Orphanet:251962] synonym: "pseudopapillary ganglioglioneurocytoma" EXACT [Orphanet:251962] synonym: "pseudopapillary neurocytoma with glial differentiation" EXACT [Orphanet:251962] xref: DOID:0081283 {source="MONDO:equivalentTo"} +xref: GARD:20730 {source="Orphanet:251962"} xref: ICDO:9509/1 {source="NCIT:C92554"} xref: NCIT:C92554 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PGNT {source="MONDO:equivalentTo"} @@ -328231,6 +340742,7 @@ relationship: has_characteristic MONDO:0024491 {source="NCIT:C92554"} ! tumor gr id: MONDO:0016736 name: rosette-forming glioneuronal tumor of fourth ventricule def: "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal." [NCIT:P378] +subset: gard_rare {source="GARD:13593"} subset: ordo_disease {source="Orphanet:251975"} synonym: "DNT of the cerebellum" EXACT [Orphanet:251975] synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [Orphanet:251975] @@ -328239,6 +340751,7 @@ synonym: "RGNT" EXACT ABBREVIATION [Orphanet:251975] synonym: "rosette-forming glioneuronal tumor" EXACT [NCIT:C129431] synonym: "rosette-forming glioneuronal tumour" EXACT OMO:0003005 [] xref: DOID:0081284 {source="MONDO:equivalentTo"} +xref: GARD:13593 {source="Orphanet:251975"} xref: NCIT:C129431 {source="MONDO:equivalentTo"} xref: Orphanet:251975 {source="MONDO:equivalentTo"} xref: UMLS:C4331262 {source="MONDO:equivalentTo"} @@ -328254,8 +340767,10 @@ replaced_by: MONDO:0005033 [Term] id: MONDO:0016738 name: obsolete primary germ cell tumor of central nervous system +subset: gard_rare {source="GARD:20732"} synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995] synonym: "primary germ cell tumour of CNS" EXACT OMO:0003005 [] +xref: GARD:20732 {source="MONDO:obsoleteEquivalent", source="Orphanet:251995"} xref: Orphanet:251995 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201986 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -328268,6 +340783,7 @@ is_obsolete: true id: MONDO:0016739 name: yolk sac tumor of central nervous system def: "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" [NCIT:C7011] +subset: gard_rare {source="GARD:20733"} subset: ordo_clinical_subtype {source="Orphanet:252006"} synonym: "central nervous system yolk Sac tumor" EXACT [NCIT:C7011] synonym: "central nervous system yolk Sac tumour" EXACT OMO:0003005 [] @@ -328291,6 +340807,7 @@ synonym: "yolk Sac tumour of CNS" EXACT OMO:0003005 [] synonym: "yolk sac tumour of CNS" EXACT OMO:0003005 [] synonym: "yolk Sac tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "yolk Sac tumour of the CNS" EXACT OMO:0003005 [] +xref: GARD:20733 {source="Orphanet:252006"} xref: NCIT:C7011 {source="MONDO:equivalentTo"} xref: Orphanet:252006 {source="MONDO:equivalentTo"} xref: UMLS:C1337040 {source="NCIT:C7011", source="MONDO:notFoundInDiseaseSubset"} @@ -328302,11 +340819,13 @@ is_a: MONDO:0005744 {source="NCIT:C7011", source="Orphanet:252006"} ! yolk sac t id: MONDO:0016740 name: choriocarcinoma of the central nervous system def: "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" [NCIT:P378] +subset: gard_rare {source="GARD:20734"} subset: ordo_clinical_subtype {source="Orphanet:252015"} synonym: "central nervous system choriocarcinoma" EXACT [NCIT:C7012] synonym: "central nervous system choriocarcinoma (disease)" EXACT [MONDO:patterns/location] synonym: "choriocarcinoma of CNS" EXACT [NCIT:C7012] synonym: "choriocarcinoma of the CNS" EXACT [NCIT:C7012] +xref: GARD:20734 {source="Orphanet:252015"} xref: NCIT:C7012 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:252015 {source="MONDO:equivalentTo"} xref: UMLS:C1332876 {source="NCIT:C7012", source="MONDO:equivalentTo"} @@ -328328,6 +340847,7 @@ replaced_by: MONDO:0002718 id: MONDO:0016742 name: mixed germ cell tumor of central nervous system def: "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." [NCIT:P378] +subset: gard_rare {source="GARD:20736"} subset: ordo_clinical_subtype {source="Orphanet:252021"} synonym: "central nervous system mixed germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C7016] synonym: "central nervous system mixed germ cell tumour" EXACT OMO:0003005 [] @@ -328340,6 +340860,7 @@ synonym: "mixed germ cell tumor of the CNS" EXACT [NCIT:C7016] synonym: "mixed germ cell tumour of CNS" EXACT OMO:0003005 [] synonym: "mixed germ cell tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "mixed germ cell tumour of the CNS" EXACT OMO:0003005 [] +xref: GARD:20736 {source="Orphanet:252021"} xref: NCIT:C7016 {source="MONDO:equivalentTo"} xref: Orphanet:252021 {source="MONDO:equivalentTo"} xref: UMLS:C1334785 {source="MONDO:equivalentTo", source="NCIT:C7016"} @@ -328354,6 +340875,7 @@ id: MONDO:0016743 name: tumor of meninges def: "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." [NCIT:C3229] subset: disease_grouping +subset: gard_rare {source="GARD:20737"} subset: ordo_group_of_disorders {source="Orphanet:252025"} synonym: "meningeal cluster neoplasm" EXACT [] synonym: "meningeal cluster neoplasm (disease)" EXACT [MONDO:patterns/location] @@ -328378,6 +340900,7 @@ synonym: "tumor of meninges" EXACT [NCIT:C3229] synonym: "tumor of the meninges" EXACT [NCIT:C3229] synonym: "tumour of meningeal cluster" EXACT OMO:0003005 [] synonym: "tumour of the meninges" EXACT OMO:0003005 [] +xref: GARD:20737 {source="Orphanet:252025"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061282 {source="Orphanet:252025", source="Orphanet:252025/e"} xref: NCIT:C3229 {source="MONDO:equivalentTo"} @@ -328393,10 +340916,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare [Term] id: MONDO:0016744 name: obsolete primary melanocytic tumor of central nervous system +subset: gard_rare {source="GARD:20738"} synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet:252028] synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028] synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028] synonym: "primary melanocytic tumour of CNS" EXACT OMO:0003005 [] +xref: GARD:20738 {source="MONDO:obsoleteEquivalent", source="Orphanet:252028"} xref: Orphanet:252028 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201991 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -328409,9 +340934,11 @@ is_obsolete: true id: MONDO:0016745 name: diffuse leptomeningeal melanocytosis def: "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis." [Orphanet:252031] +subset: gard_rare {source="GARD:20739"} subset: ordo_disease {source="Orphanet:252031"} synonym: "DLM" EXACT ABBREVIATION [Orphanet:252031] synonym: "leptomeningeal melanomatosis" BROAD [Orphanet:252031] +xref: GARD:20739 {source="Orphanet:252031"} xref: Orphanet:252031 {source="MONDO:equivalentTo"} is_a: MONDO:0016743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! tumor of meninges is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor @@ -328422,6 +340949,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016746 name: meningeal melanocytoma def: "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." [NCIT:P378] +subset: gard_rare {source="GARD:20740"} subset: ordo_disease {source="Orphanet:252046"} synonym: "leptomeningeal melanocytoma" EXACT [DOID:5900, NCIT:C4662] synonym: "melanocytoma of meninges" EXACT [NCIT:C4662] @@ -328429,6 +340957,7 @@ synonym: "melanocytoma of the meninges" EXACT [NCIT:C4662] synonym: "meninges melanocytoma" EXACT [NCIT:C4662] xref: DOID:5900 {source="MONDO:equivalentTo"} xref: EFO:1000370 {source="MONDO:equivalentTo"} +xref: GARD:20740 {source="Orphanet:252046"} xref: ICDO:8728/1 {source="NCIT:C4662"} xref: NCIT:C4662 {source="DOID:5900", source="MONDO:equivalentTo"} xref: Orphanet:252046 {source="MONDO:equivalentTo"} @@ -328441,7 +340970,7 @@ is_a: MONDO:0003222 {source="DOID:5900", source="NCIT:C4662/inferred"} ! central id: MONDO:0016747 name: primary melanoma of the central nervous system def: "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." [NCIT:C5505] -subset: gard_rare {source="GARD:0012016"} +subset: gard_rare {source="GARD:12016"} subset: ordo_disease {source="Orphanet:252050"} synonym: "Central nervous system melanoma" EXACT [NCIT:C5505] synonym: "central nervous system melanoma" EXACT [] @@ -328456,6 +340985,7 @@ synonym: "melanoma of the CNS" EXACT [NCIT:C5505] synonym: "primary CNS melanoma" RELATED [GARD:0012016] synonym: "primary melanoma of the CNS" RELATED [GARD:0012016] synonym: "primary meningeal melanoma" RELATED [GARD:0012016] +xref: GARD:12016 {source="Orphanet:252050"} xref: NCIT:C5505 {source="ONCOTREE:PCNSM", source="MONDO:equivalentTo"} xref: ONCOTREE:PCNSM {source="MONDO:equivalentTo"} xref: Orphanet:252050 {source="MONDO:equivalentTo"} @@ -328472,12 +341002,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12016/primar id: MONDO:0016748 name: hemangioblastoma def: "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." [Orphanet:252054] +subset: gard_rare {source="GARD:8232"} subset: ordo_disease {source="Orphanet:252054"} synonym: "angioblastoma" EXACT [NCIT:C3801] synonym: "capillary hemangioblastoma" EXACT [DOID:5241, NCIT:C3801] synonym: "hemangioblastoma" EXACT [NCIT:C3801] synonym: "HMBL" RELATED ABBREVIATION [ONCOTREE:HMBL] xref: DOID:5241 {source="MONDO:equivalentTo"} +xref: GARD:8232 {source="Orphanet:252054"} xref: ICD10CM:D33.4 {source="Orphanet:252054/btnt", source="MONDO:relatedTo", source="Orphanet:252054"} xref: ICD10CM:D33.7 {source="Orphanet:252054/btnt", source="Orphanet:252054"} xref: ICDO:9161/1 {source="NCIT:C3801"} @@ -328496,10 +341028,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare id: MONDO:0016749 name: tumor of cranial and spinal nerves subset: disease_grouping -subset: gard_rare {source="GARD:0012697"} +subset: gard_rare {source="GARD:12697"} subset: ordo_group_of_disorders {source="Orphanet:252057"} synonym: "rare tumor of cranial and spinal nerves" EXACT [Orphanet:252057] synonym: "rare tumour of cranial and spinal nerves" EXACT OMO:0003005 [] +xref: GARD:12697 {source="Orphanet:252057"} xref: Orphanet:252057 {source="MONDO:equivalentTo"} xref: UMLS:CN201996 {source="MONDO:equivalentTo"} is_a: MONDO:0021248 {source="Orphanet:252057"} ! nervous system neoplasm @@ -328510,10 +341043,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12697/tumor- id: MONDO:0016750 name: microcephaly-cleft palate syndrome def: "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." [Orphanet:2521] +subset: gard_rare {source="GARD:8623"} subset: ordo_malformation_syndrome {source="Orphanet:2521"} synonym: "Halal syndrome" EXACT [Orphanet:2521] synonym: "microcephaly cleft palate autosomal dominant" RELATED [GARD:0008623] synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [Orphanet:2521] +xref: GARD:8623 {source="Orphanet:2521"} xref: ICD10CM:Q87.8 {source="Orphanet:2521/attributed", source="Orphanet:2521/ntbt", source="Orphanet:2521"} xref: MESH:C535622 {source="MONDO:equivalentTo"} xref: Orphanet:2521 {source="MONDO:equivalentTo"} @@ -328528,12 +341063,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016751 name: malignant perineurioma def: "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." [NCIT:C66845] +subset: gard_rare {source="GARD:20741"} subset: ordo_disease {source="Orphanet:252128"} synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845] synonym: "malignant peripheral nerve sheath tumour with perineurial differentiation" EXACT OMO:0003005 [] synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C66845] synonym: "perineurial malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant] +xref: GARD:20741 {source="Orphanet:252128"} xref: ICDO:9571/3 {source="NCIT:C66845"} xref: NCIT:C66845 {source="MONDO:equivalentTo"} xref: Orphanet:252128 {source="MONDO:equivalentTo"} @@ -328549,8 +341086,10 @@ id: MONDO:0016752 name: benign peripheral nerve sheath tumor comment: Editor note: consider relationship to granular cell tumor subset: disease_grouping +subset: gard_rare {source="GARD:7180"} subset: ordo_group_of_disorders {source="Orphanet:252131"} synonym: "BPNST" EXACT ABBREVIATION [Orphanet:252131] +xref: GARD:7180 {source="Orphanet:252131"} xref: Orphanet:252131 {source="MONDO:equivalentTo"} xref: UMLS:CN202000 {source="MONDO:equivalentTo"} is_a: MONDO:0016749 {source="Orphanet:252131"} ! tumor of cranial and spinal nerves @@ -328573,7 +341112,7 @@ replaced_by: MONDO:0001569 id: MONDO:0016755 name: neurofibroma def: "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." [NCIT:C3272] -subset: gard_rare {source="GARD:0007191"} +subset: gard_rare {source="GARD:7191"} subset: ordo_disease {source="Orphanet:252183"} synonym: "neurofibroma" EXACT [NCIT:C3272] synonym: "neurofibroma (WHO grade I)" EXACT [NCIT:C3272] @@ -328581,6 +341120,7 @@ synonym: "neurofibroma, benign" EXACT [NCIT:C3272] synonym: "NFIB" RELATED ABBREVIATION [ONCOTREE:NFIB] xref: DOID:962 {source="MONDO:equivalentTo"} xref: EFO:0000622 {source="MONDO:equivalentTo"} +xref: GARD:7191 {source="Orphanet:252183"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9540/0 {source="NCIT:C3272"} xref: MedDRA:10029267 {source="Orphanet:252183/e", source="Orphanet:252183"} @@ -328602,6 +341142,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7191/neurofi [Term] id: MONDO:0016756 name: obsolete inherited nervous system cancer-predisposing syndrome +subset: gard_rare {source="GARD:20742"} +xref: GARD:20742 {source="MONDO:obsoleteEquivalent", source="Orphanet:252190"} xref: Orphanet:252190 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202004 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -328613,6 +341155,7 @@ is_obsolete: true id: MONDO:0016757 name: malignant triton tumor def: "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." [Orphanet:252212] +subset: gard_rare {source="GARD:20743"} subset: ordo_clinical_subtype {source="Orphanet:252212"} synonym: "malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] @@ -328632,6 +341175,7 @@ synonym: "MPNST with rhabdomyosarcoma" EXACT [DOID:6707, NCIT:C4335] synonym: "MPNST with rhabdomyosarcomatous differentiation" EXACT [Orphanet:252212] synonym: "MTT" EXACT ABBREVIATION [Orphanet:252212] xref: DOID:6707 {source="MONDO:equivalentTo"} +xref: GARD:20743 {source="Orphanet:252212"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9561/3 {source="NCIT:C4335"} xref: NCIT:C4335 {source="MONDO:equivalentTo", source="DOID:6707", source="MONDO:exact-label-match"} @@ -328646,11 +341190,12 @@ is_a: MONDO:0017827 {source="DOID:6707", source="NCIT:C4335/inferred", source="O id: MONDO:0016758 name: microcephaly-brain defect-spasticity-hypernatremia syndrome def: "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." [Orphanet:2523] -subset: gard_rare +subset: gard_rare {source="GARD:3607"} subset: ordo_malformation_syndrome {source="Orphanet:2523"} synonym: "Franek-Bocker-Kahlen syndrome" EXACT [GARD:0003607, Orphanet:2523] synonym: "microcephaly - brain defect - spasticity - hypernatremia" RELATED [GARD:0003607] synonym: "microcephaly brain defect spasticity hypernatremia" RELATED [GARD:0003607] +xref: GARD:3607 {source="Orphanet:2523"} xref: ICD10CM:G98 {source="Orphanet:2523", source="Orphanet:2523/attributed", source="Orphanet:2523/ntbt"} xref: Orphanet:2523 {source="MONDO:equivalentTo", source="GARD:0003607"} xref: UMLS:CN202009 {source="MONDO:equivalentTo"} @@ -328661,11 +341206,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3607/microce id: MONDO:0016759 name: pontocerebellar hypoplasia type 2 def: "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." [Orphanet:2524] -subset: gard_rare {source="GARD:0010705"} +subset: gard_rare {source="GARD:10705"} subset: ordo_malformation_syndrome {source="Orphanet:2524"} synonym: "PCH2" EXACT ABBREVIATION [Orphanet:2524] synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy" RELATED [GARD:0010705] xref: DOID:0112328 {source="MONDO:equivalentTo"} +xref: GARD:10705 {source="Orphanet:2524"} xref: ICD10CM:Q04.3 {source="Orphanet:2524", source="Orphanet:2524/attributed", source="Orphanet:2524/ntbt"} xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="Orphanet:2524/e"} xref: NCIT:C124057 {source="MONDO:equivalentTo"} @@ -328680,12 +341226,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10705/pontoc id: MONDO:0016760 name: microcephaly-microcornea syndrome, Seemanova type def: "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." [Orphanet:2528] -subset: gard_rare {source="GARD:0003627"} +subset: gard_rare {source="GARD:3627"} subset: ordo_malformation_syndrome {source="Orphanet:2528"} synonym: "microcephaly microcornea syndrome Seemanova type" RELATED [GARD:0003627] synonym: "Seemanova Lesny syndrome" RELATED [GARD:0003627] synonym: "Seemanova-Lesny syndrome" EXACT [Orphanet:2528] synonym: "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation" RELATED [GARD:0003627] +xref: GARD:3627 {source="Orphanet:2528"} xref: ICD10CM:Q87.8 {source="Orphanet:2528", source="Orphanet:2528/attributed", source="Orphanet:2528/ntbt"} xref: MESH:C537536 {source="Orphanet:2528/e", source="Orphanet:2528"} xref: MESH:C537539 {source="Orphanet:2528/e", source="MONDO:equivalentTo", source="Orphanet:2528"} @@ -328741,9 +341288,11 @@ id: MONDO:0016763 name: spondylometaphyseal dysplasia def: "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." [Orphanet:254] subset: disease_grouping +subset: gard_rare {source="GARD:18685"} subset: ordo_group_of_disorders {source="Orphanet:254"} synonym: "spondylometaphyseal dysplasia" EXACT CLINGEN_PREFERRED [] xref: DOID:0112295 {source="MONDO:equivalentTo"} +xref: GARD:18685 {source="Orphanet:254"} xref: ICD10CM:Q77.8 {source="Orphanet:254/attributed", source="Orphanet:254/ntbt", source="Orphanet:254"} xref: OMIMPS:184255 {source="MONDO:equivalentTo"} xref: Orphanet:254 {source="MONDO:equivalentTo"} @@ -328757,6 +341306,7 @@ id: MONDO:0016764 name: isolated anophthalmia-microphthalmia syndrome def: "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." [Orphanet:2542] subset: disease_grouping +subset: gard_rare {source="GARD:12085"} subset: ordo_group_of_disorders {source="Orphanet:2542"} synonym: "clinical anophthalmia" RELATED [GARD:0012085] synonym: "isolated anophthalmia - microphthalmia" RELATED [GARD:0012085] @@ -328765,6 +341315,7 @@ synonym: "MAC spectrum" EXACT [Orphanet:2542] synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [Orphanet:2542] synonym: "nonsyndromic anophthalmia-microphthalmia syndrome" EXACT [MONDO:patterns/isolated] synonym: "primitive anophthalmia" RELATED [GARD:0012085] +xref: GARD:12085 {source="Orphanet:2542"} xref: ICD10CM:Q11.0 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} xref: ICD10CM:Q11.1 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} xref: ICD10CM:Q11.2 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} @@ -328780,11 +341331,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016765 name: 19p13.12 microdeletion syndrome def: "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." [Orphanet:254346] -subset: gard_rare {source="GARD:0010991"} +subset: gard_rare {source="GARD:10991"} subset: ordo_malformation_syndrome {source="Orphanet:254346"} synonym: "Chromosome19p13.12 microdeletion" RELATED [GARD:0010991] synonym: "Del(19)(p13.12)" EXACT [Orphanet:254346] synonym: "monosomy 19p13.12" EXACT [Orphanet:254346] +xref: GARD:10991 {source="Orphanet:254346"} xref: ICD10CM:Q93.5 {source="Orphanet:254346", source="Orphanet:254346/attributed", source="Orphanet:254346/ntbt"} xref: Orphanet:254346 {source="MONDO:equivalentTo"} xref: SCTID:719597005 {source="MONDO:equivalentTo"} @@ -328801,10 +341353,11 @@ id: MONDO:0016766 name: obsolete rare lichen planus def: "OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." [Orphanet:254367] subset: disease_grouping -subset: gard_rare {source="GARD:0012344"} +subset: gard_rare {source="GARD:12344"} subset: ordo_group_of_disorders {source="Orphanet:254367"} synonym: "rare lichen planus" EXACT [MONDO:patterns/rare] synonym: "rare LP" EXACT [Orphanet:254367] +xref: GARD:12344 {source="MONDO:obsoleteEquivalent", source="Orphanet:254367"} xref: ICD10CM:L43.0 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.1 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.2 {source="Orphanet:254367/btnt", source="Orphanet:254367"} @@ -328823,9 +341376,11 @@ replaced_by: MONDO:0006572 id: MONDO:0016767 name: obsolete cutaneous lichen planus subset: disease_grouping +subset: gard_rare {source="GARD:20744"} subset: ordo_group_of_disorders {source="Orphanet:254370"} synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [Orphanet:254370] synonym: "rare cutaneous LP" EXACT [Orphanet:254370] +xref: GARD:20744 {source="MONDO:obsoleteEquivalent", source="Orphanet:254370"} xref: ICD10CM:L43.0 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.1 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.2 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} @@ -328845,8 +341400,10 @@ consider: MONDO:0006572 id: MONDO:0016768 name: obsolete rare mucosal lichen planus subset: disease_grouping +subset: gard_rare {source="GARD:20745"} subset: ordo_group_of_disorders {source="Orphanet:254373"} synonym: "rare mucosal LP" EXACT [Orphanet:254373] +xref: GARD:20745 {source="Orphanet:254373", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L43.0 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.2 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} @@ -328864,12 +341421,13 @@ is_obsolete: true id: MONDO:0016769 name: linear lichen planus def: "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." [Orphanet:254379] -subset: gard_rare {source="GARD:0011898"} +subset: gard_rare {source="GARD:11898"} subset: ordo_disease {source="Orphanet:254379"} synonym: "Blaschkoid lichen planus" EXACT [Orphanet:254379] synonym: "Blaschkoid LP" EXACT [Orphanet:254379] synonym: "linear LP" EXACT [Orphanet:254379] synonym: "llp" RELATED [GARD:0011898] +xref: GARD:11898 {source="Orphanet:254379"} xref: ICD10CM:L43.8 {source="Orphanet:254379", source="Orphanet:254379/ntbt"} xref: Orphanet:254379 {source="MONDO:equivalentTo"} xref: SCTID:44509000 {source="MONDO:equivalentTo"} @@ -328881,7 +341439,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11898/linear id: MONDO:0016770 name: actinic lichen planus def: "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions." [Orphanet:254395] -subset: gard_rare {source="GARD:0012673"} +subset: gard_rare {source="GARD:12673"} subset: ordo_disease {source="Orphanet:254395"} synonym: "actinic LP" EXACT [Orphanet:254395] synonym: "lichen planus actinus" EXACT [Orphanet:254395] @@ -328889,6 +341447,7 @@ synonym: "lichen planus subtropicus" EXACT [Orphanet:254395] synonym: "lichen planus tropicus" EXACT [Orphanet:254395] synonym: "lichenoid melanodermatitis" EXACT [Orphanet:254395] synonym: "summertime actinic lichenoid eruption" EXACT [Orphanet:254395] +xref: GARD:12673 {source="Orphanet:254395"} xref: ICD10CM:L43.8 {source="Orphanet:254395", source="Orphanet:254395/ntbt"} xref: Orphanet:254395 {source="MONDO:equivalentTo"} xref: SCTID:200999007 {source="MONDO:equivalentTo"} @@ -328900,9 +341459,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12673/actini id: MONDO:0016771 name: annular atrophic lichen planus def: "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." [Orphanet:254411] -subset: gard_rare {source="GARD:0012676"} +subset: gard_rare {source="GARD:12676"} subset: ordo_disease {source="Orphanet:254411"} synonym: "annular atrophic LP" EXACT [Orphanet:254411] +xref: GARD:12676 {source="Orphanet:254411"} xref: ICD10CM:L43.8 {source="Orphanet:254411/ntbt", source="Orphanet:254411"} xref: Orphanet:254411 {source="MONDO:equivalentTo"} xref: SCTID:720493003 {source="MONDO:equivalentTo"} @@ -328914,9 +341474,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12676/annula id: MONDO:0016772 name: annular lichen planus def: "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." [Orphanet:254424] -subset: gard_rare {source="GARD:0012674"} +subset: gard_rare {source="GARD:12674"} subset: ordo_disease {source="Orphanet:254424"} synonym: "annular LP" EXACT [Orphanet:254424] +xref: GARD:12674 {source="Orphanet:254424"} xref: ICD10CM:L43.8 {source="Orphanet:254424", source="Orphanet:254424/ntbt"} xref: Orphanet:254424 {source="MONDO:equivalentTo"} xref: SCTID:201000006 {source="MONDO:equivalentTo"} @@ -328928,9 +341489,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12674/annula id: MONDO:0016773 name: atrophic lichen planus def: "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." [Orphanet:254449] -subset: gard_rare {source="GARD:0012675"} +subset: gard_rare {source="GARD:12675"} subset: ordo_disease {source="Orphanet:254449"} synonym: "atrophic LP" EXACT [Orphanet:254449] +xref: GARD:12675 {source="Orphanet:254449"} xref: ICD10CM:L43.8 {source="Orphanet:254449/ntbt", source="Orphanet:254449"} xref: MedDRA:10056959 {source="Orphanet:254449/e", source="Orphanet:254449"} xref: NCIT:C34777 {source="MONDO:equivalentTo"} @@ -328944,12 +341506,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12675/atroph id: MONDO:0016774 name: lichen planus pigmentosus def: "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." [Orphanet:254463] -subset: gard_rare {source="GARD:0010816"} +subset: gard_rare {source="GARD:10816"} subset: ordo_disease {source="Orphanet:254463"} synonym: "lichen planus pigmentosa" EXACT [Orphanet:254463] synonym: "lichen planus pigmentosus inversus" EXACT [Orphanet:254463] synonym: "LP pigmentosa" EXACT [Orphanet:254463] synonym: "LP pigmentosus" EXACT [Orphanet:254463] +xref: GARD:10816 {source="Orphanet:254463"} xref: ICD10CM:L43.8 {source="Orphanet:254463/ntbt", source="Orphanet:254463"} xref: Orphanet:254463 {source="MONDO:equivalentTo"} xref: SCTID:717061002 {source="MONDO:equivalentTo"} @@ -328961,9 +341524,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10816/lichen id: MONDO:0016775 name: lichen planus pemphigoides def: "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid." [Orphanet:254478] -subset: gard_rare {source="GARD:0012677"} +subset: gard_rare {source="GARD:12677"} subset: ordo_disease {source="Orphanet:254478"} synonym: "LP pemphigoides" EXACT [Orphanet:254478] +xref: GARD:12677 {source="Orphanet:254478"} xref: ICD10CM:L43.8 {source="Orphanet:254478", source="Orphanet:254478/ntbt"} xref: Orphanet:254478 {source="MONDO:equivalentTo"} xref: SCTID:238653005 {source="MONDO:equivalentTo"} @@ -328975,9 +341539,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12677/lichen id: MONDO:0016776 name: frontal fibrosing alopecia def: "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." [Orphanet:254492] -subset: gard_rare {source="GARD:0010886"} +subset: gard_rare {source="GARD:10886"} subset: ordo_disease {source="Orphanet:254492"} synonym: "FFA" EXACT ABBREVIATION [Orphanet:254492] +xref: GARD:10886 {source="Orphanet:254492"} xref: ICD10CM:L66.1 {source="Orphanet:254492/ntbt", source="MONDO:directSiblingOf", source="Orphanet:254492"} xref: Orphanet:254492 {source="MONDO:equivalentTo"} xref: SCTID:717055000 {source="MONDO:equivalentTo"} @@ -328990,8 +341555,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10886/fronta id: MONDO:0016777 name: inhalational botulism def: "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." [Orphanet:254504] +subset: gard_rare {source="GARD:20746"} subset: ordo_clinical_subtype {source="Orphanet:254504"} synonym: "inhalation botulism" EXACT [Orphanet:254504] +xref: GARD:20746 {source="Orphanet:254504"} xref: ICD10CM:A05.1 {source="Orphanet:254504/ntbt", source="Orphanet:254504"} xref: Orphanet:254504 {source="MONDO:equivalentTo"} xref: SCTID:409562009 {source="MONDO:equivalentTo"} @@ -329002,9 +341569,11 @@ is_a: MONDO:0005498 {source="Orphanet:254504"} ! botulism id: MONDO:0016778 name: iatrogenic botulism def: "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." [Orphanet:254509] +subset: gard_rare {source="GARD:20747"} subset: ordo_clinical_subtype {source="Orphanet:254509"} synonym: "accidental botulism" EXACT [NCIT:C128345] synonym: "inadvertent botulism" EXACT [Orphanet:254509] +xref: GARD:20747 {source="Orphanet:254509"} xref: ICD10CM:A05.1 {source="Orphanet:254509/ntbt", source="Orphanet:254509"} xref: NCIT:C128345 {source="MONDO:equivalentTo"} xref: Orphanet:254509 {source="MONDO:equivalentTo"} @@ -329017,10 +341586,12 @@ intersection_of: has_characteristic MONDO:0100426 ! iatrogenic id: MONDO:0016779 name: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect def: "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." [Orphanet:254519] +subset: gard_rare {source="GARD:17219"} subset: ordo_malformation_syndrome {source="Orphanet:254519"} synonym: "Kagami-Ogata syndrome" EXACT [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, Orphanet:254519, PMID:34760887] synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [Orphanet:254519] xref: DOID:0111712 {source="MONDO:equivalentTo"} +xref: GARD:17219 {source="Orphanet:254519"} xref: Orphanet:254519 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:254519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100499 {source="https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/"} ! multiple congenital anomalies due to 14q32.2 imprinting defect @@ -329036,9 +341607,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016780 name: paternal 14q32.2 microdeletion syndrome +subset: gard_rare {source="GARD:17220"} subset: ordo_etiological_subtype {source="Orphanet:254525"} synonym: "paternal del(14)(q32.2)" EXACT [Orphanet:254525] synonym: "paternal monosomy 14q32.2" EXACT [Orphanet:254525] +xref: GARD:17220 {source="Orphanet:254525"} xref: ICD10CM:Q93.5 {source="Orphanet:254525", source="Orphanet:254525/attributed", source="Orphanet:254525/ntbt"} xref: Orphanet:254525 {source="MONDO:equivalentTo"} xref: UMLS:CN202036 {source="MONDO:equivalentTo"} @@ -329051,9 +341624,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016781 name: maternal 14q32.2 microdeletion syndrome +subset: gard_rare {source="GARD:17221"} subset: ordo_etiological_subtype {source="Orphanet:254528"} synonym: "maternal del(14)(q32.2)" EXACT [Orphanet:254528] synonym: "maternal monosomy 14q32.2" EXACT [Orphanet:254528] +xref: GARD:17221 {source="Orphanet:254528"} xref: ICD10CM:Q93.5 {source="Orphanet:254528/attributed", source="Orphanet:254528/ntbt", source="Orphanet:254528"} xref: Orphanet:254528 {source="MONDO:equivalentTo"} xref: UMLS:CN202037 {source="MONDO:equivalentTo"} @@ -329062,7 +341637,9 @@ is_a: MONDO:0016779 {source="Orphanet:254528"} ! multiple congenital anomalies d [Term] id: MONDO:0016782 name: paternal 14q32.2 hypomethylation syndrome +subset: gard_rare {source="GARD:17222"} subset: ordo_etiological_subtype {source="Orphanet:254531"} +xref: GARD:17222 {source="Orphanet:254531"} xref: Orphanet:254531 {source="MONDO:equivalentTo"} xref: UMLS:CN202038 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:254531"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect @@ -329070,7 +341647,9 @@ is_a: MONDO:0014541 {source="Orphanet:254531"} ! motor developmental delay due t [Term] id: MONDO:0016783 name: maternal 14q32.2 hypermethylation syndrome +subset: gard_rare {source="GARD:17223"} subset: ordo_etiological_subtype {source="Orphanet:254534"} +xref: GARD:17223 {source="Orphanet:254534"} xref: ICD10CM:Q99.8 {source="Orphanet:254534", source="Orphanet:254534/attributed", source="Orphanet:254534/ntbt"} xref: Orphanet:254534 {source="MONDO:equivalentTo"} xref: UMLS:CN202039 {source="MONDO:equivalentTo"} @@ -329079,6 +341658,8 @@ is_a: MONDO:0016779 {source="Orphanet:254534"} ! multiple congenital anomalies d [Term] id: MONDO:0016784 name: obsolete gestational trophoblastic disease +subset: gard_rare {source="GARD:20748"} +xref: GARD:20748 {source="MONDO:obsoleteEquivalent", source="Orphanet:254685"} xref: ICD9:631 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D031901 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"} xref: NCIT:C4699 {source="ONCOTREE:GTD"} @@ -329097,11 +341678,13 @@ consider: MONDO:0018944 id: MONDO:0016785 name: complete hydatidiform mole def: "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." [Orphanet:254688] +subset: gard_rare {source="GARD:17224"} subset: ordo_clinical_subtype {source="Orphanet:254688"} synonym: "classical hydatidiform Mole" EXACT [NCIT:C4871] synonym: "complete hydatid Mole" EXACT [NCIT:C4871] synonym: "complete molar pregnancy" EXACT [Orphanet:254688] synonym: "complete Mole" EXACT [NCIT:C4871] +xref: GARD:17224 {source="Orphanet:254688"} xref: ICD10CM:O01.0 {source="Orphanet:254688", source="Orphanet:254688/e"} xref: NCIT:C4871 {source="MONDO:equivalentTo"} xref: ONCOTREE:CHM {source="MONDO:equivalentTo"} @@ -329114,6 +341697,7 @@ is_a: MONDO:0006248 {source="NCIT:C4871", source="ONCOTREE:CHM", source="Orphane id: MONDO:0016786 name: partial hydatidiform mole def: "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." [Orphanet:254693] +subset: gard_rare {source="GARD:20749"} subset: ordo_clinical_subtype {source="Orphanet:254693"} synonym: "incomplete hydatid Mole" EXACT [NCIT:C4293] synonym: "incomplete hydatidiform mole" EXACT [Orphanet:254693] @@ -329122,6 +341706,7 @@ synonym: "partial hydatid Mole" EXACT [NCIT:C4293] synonym: "partial molar pregnancy" EXACT [Orphanet:254693] synonym: "partial Mole" EXACT [NCIT:C4293] synonym: "PHM" RELATED ABBREVIATION [ONCOTREE:PHM] +xref: GARD:20749 {source="Orphanet:254693"} xref: ICD10CM:O01.1 {source="Orphanet:254693", source="Orphanet:254693/e"} xref: ICDO:9103/0 {source="NCIT:C4293"} xref: NCIT:C4293 {source="MONDO:equivalentTo"} @@ -329135,10 +341720,12 @@ is_a: MONDO:0006248 {source="NCIT:C4293", source="ONCOTREE:PHM", source="Orphane id: MONDO:0016787 name: epithelioid trophoblastic tumor def: "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." [Orphanet:254698] +subset: gard_rare {source="GARD:20750"} subset: ordo_disease {source="Orphanet:254698"} synonym: "epithelioid trophoblastic tumor" EXACT [MONDO:0002700] synonym: "ETT" RELATED ABBREVIATION [ONCOTREE:ETT] xref: DOID:3593 {source="MONDO:equivalentTo"} +xref: GARD:20750 {source="Orphanet:254698"} xref: ICD10CM:D39.2 {source="Orphanet:254698", source="Orphanet:254698/ntbt"} xref: ICDO:9105/3 {source="NCIT:C6900"} xref: NCIT:C6900 {source="MONDO:equivalentTo", source="DOID:3593"} @@ -329155,8 +341742,10 @@ id: MONDO:0016788 name: obsolete genetic hyperferritinemia without iron overload def: "OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." [Orphanet:254704] comment: This is a biological anomaly and not a disease. +subset: gard_rare {source="GARD:20751"} subset: ordo_biological_anomaly {source="Orphanet:254704"} synonym: "benign hyperferritinemia" EXACT [Orphanet:254704] +xref: GARD:20751 {source="MONDO:obsoleteEquivalent", source="Orphanet:254704"} xref: Orphanet:254704 {source="MONDO:obsoleteEquivalent"} xref: SCTID:766929007 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -329169,10 +341758,12 @@ id: MONDO:0016789 name: pyruvate metabolism disorder def: "An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:20752"} subset: ordo_group_of_disorders {source="Orphanet:254746"} synonym: "inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyruvate metabolic process disorder" EXACT [] synonym: "rare inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:20752 {source="Orphanet:254746"} xref: ICD10CM:E74.4 {source="Orphanet:254746/attributed", source="Orphanet:254746/ntbt", source="Orphanet:254746"} xref: Orphanet:254746 {source="MONDO:equivalentTo"} xref: UMLS:CN226999 {source="MONDO:equivalentTo"} @@ -329185,6 +341776,7 @@ id: MONDO:0016790 name: tricarboxylic acid cycle disorder def: "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:20753"} subset: ordo_group_of_disorders {source="Orphanet:254749"} synonym: "citric acid cycle disorder" EXACT [Orphanet:254749] synonym: "inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic] @@ -329192,6 +341784,7 @@ synonym: "inborn tricarboxylic acid cycle disorder" EXACT [] synonym: "Krebs cycle disorder" EXACT [Orphanet:254749] synonym: "rare inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic] synonym: "TCA cycle disorder" EXACT [Orphanet:254749] +xref: GARD:20753 {source="Orphanet:254749"} xref: ICD10CM:E88.8 {source="Orphanet:254749/attributed", source="Orphanet:254749/ntbt", source="Orphanet:254749"} xref: Orphanet:254749 {source="MONDO:equivalentTo"} xref: UMLS:CN227000 {source="MONDO:equivalentTo"} @@ -329203,10 +341796,12 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006099 ! tricarboxylic a id: MONDO:0016791 name: obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' +subset: gard_rare {source="GARD:20754"} subset: ordo_group_of_disorders {source="Orphanet:254758"} synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [Orphanet:254758] synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [Orphanet:254758] synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [Orphanet:254758] +xref: GARD:20754 {source="MONDO:obsoleteEquivalent", source="Orphanet:254758"} xref: Orphanet:254758 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202048 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -329218,10 +341813,12 @@ consider: MONDO:0016387 id: MONDO:0016792 name: obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' +subset: gard_rare {source="GARD:20755"} subset: ordo_group_of_disorders {source="Orphanet:254767"} synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [Orphanet:254767] synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] +xref: GARD:20755 {source="MONDO:obsoleteEquivalent", source="Orphanet:254767"} xref: Orphanet:254767 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202049 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -329233,10 +341830,12 @@ consider: MONDO:0016387 id: MONDO:0016793 name: obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' +subset: gard_rare {source="GARD:20756"} subset: ordo_group_of_disorders {source="Orphanet:254776"} synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [Orphanet:254776] synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [Orphanet:254776] synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [Orphanet:254776] +xref: GARD:20756 {source="MONDO:obsoleteEquivalent", source="Orphanet:254776"} xref: Orphanet:254776 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -329247,6 +341846,8 @@ consider: MONDO:0016387 [Term] id: MONDO:0016794 name: obsolete maternally-inherited mitochondrial myopathy +subset: gard_rare {source="GARD:20757"} +xref: GARD:20757 {source="MONDO:obsoleteEquivalent", source="Orphanet:254788"} xref: ICD10CM:G71.3 {source="Orphanet:254788", source="Orphanet:254788/attributed", source="Orphanet:254788/ntbt"} xref: Orphanet:254788 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -329276,8 +341877,10 @@ id: MONDO:0016796 name: mitochondrial DNA depletion syndrome, encephalomyopathic form def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." [Orphanet:254803] subset: disease_grouping +subset: gard_rare {source="GARD:17225"} subset: ordo_group_of_disorders {source="Orphanet:254803"} synonym: "mtDNA depletion syndrome, encephalomyopathic form" EXACT [Orphanet:254803] +xref: GARD:17225 {source="Orphanet:254803"} xref: Orphanet:254803 {source="MONDO:equivalentTo"} xref: UMLS:CN202052 {source="MONDO:equivalentTo"} xref: UMLS:CN230130 {source="MONDO:equivalentTo"} @@ -329287,7 +341890,9 @@ is_a: MONDO:0018158 {source="Orphanet:254803"} ! mitochondrial DNA depletion syn id: MONDO:0016797 name: obsolete multiple mitochondrial DNA deletion syndrome def: "OBSOLETE. A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal." [PMID:24266892] +subset: gard_rare {source="GARD:20758"} synonym: "multiple mtDNA deletion syndrome" EXACT [Orphanet:254807] +xref: GARD:20758 {source="Orphanet:254807", source="MONDO:obsoleteEquivalent"} xref: Orphanet:254807 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202053 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -329301,7 +341906,9 @@ is_obsolete: true id: MONDO:0016798 name: ataxia neuropathy spectrum subset: disease_grouping +subset: gard_rare {source="GARD:20759"} subset: ordo_group_of_disorders {source="Orphanet:254818"} +xref: GARD:20759 {source="Orphanet:254818"} xref: MESH:C579922 {source="MONDO:equivalentTo"} xref: Orphanet:254818 {source="MONDO:equivalentTo"} xref: UMLS:C3683791 {source="Orphanet:254818", source="MONDO:equivalentTo"} @@ -329311,8 +341918,10 @@ is_a: MONDO:0016387 {source="Orphanet:254818", source="https://orcid.org/0000-00 id: MONDO:0016799 name: obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' +subset: gard_rare {source="GARD:20760"} subset: ordo_group_of_disorders {source="Orphanet:254822"} synonym: "OXPHOS disease with no known mechanism" EXACT [Orphanet:254822] +xref: GARD:20760 {source="MONDO:obsoleteEquivalent", source="Orphanet:254822"} xref: Orphanet:254822 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202054 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -329324,7 +341933,9 @@ consider: MONDO:0016387 id: MONDO:0016800 name: mitochondrial membrane transport disorder subset: disease_grouping +subset: gard_rare {source="GARD:20761"} subset: ordo_group_of_disorders {source="Orphanet:254827"} +xref: GARD:20761 {source="Orphanet:254827"} xref: Orphanet:254827 {source="MONDO:equivalentTo"} xref: UMLS:CN227001 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:254827"} ! inborn mitochondrial metabolism disorder @@ -329335,7 +341946,9 @@ intersection_of: disease_disrupts GO:1990542 ! mitochondrial transmembrane trans id: MONDO:0016801 name: mitochondrial substrate carrier disorder subset: disease_grouping +subset: gard_rare {source="GARD:20762"} subset: ordo_group_of_disorders {source="Orphanet:254830"} +xref: GARD:20762 {source="Orphanet:254830"} xref: Orphanet:254830 {source="MONDO:equivalentTo"} xref: UMLS:CN227002 {source="MONDO:equivalentTo"} is_a: MONDO:0016800 {source="Orphanet:254830"} ! mitochondrial membrane transport disorder @@ -329344,7 +341957,9 @@ is_a: MONDO:0016800 {source="Orphanet:254830"} ! mitochondrial membrane transpor id: MONDO:0016802 name: mitochondrial protein import disorder subset: disease_grouping +subset: gard_rare {source="GARD:20763"} subset: ordo_group_of_disorders {source="Orphanet:254834"} +xref: GARD:20763 {source="Orphanet:254834"} xref: Orphanet:254834 {source="MONDO:equivalentTo"} xref: UMLS:CN227003 {source="MONDO:equivalentTo"} is_a: MONDO:0016800 {source="Orphanet:254834"} ! mitochondrial membrane transport disorder @@ -329352,7 +341967,9 @@ is_a: MONDO:0016800 {source="Orphanet:254834"} ! mitochondrial membrane transpor [Term] id: MONDO:0016803 name: obsolete unspecified inborn mitochondrial disorder +subset: gard_rare {source="GARD:20764"} synonym: "unspecified mitochondrial disorder" EXACT [Orphanet:254837] +xref: GARD:20764 {source="MONDO:obsoleteEquivalent", source="Orphanet:254837"} xref: Orphanet:254837 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227004 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -329366,14 +341983,18 @@ is_obsolete: true id: MONDO:0016804 name: obsolete exercise intolerance with lactic acidosis subset: disease_grouping +subset: gard_rare {source="GARD:20765"} subset: ordo_group_of_disorders {source="Orphanet:254843"} +xref: GARD:20765 {source="MONDO:obsoleteEquivalent", source="Orphanet:254843"} xref: Orphanet:254843 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0016805 name: obsolete isolated oxidative phosphorylation complex disorder +subset: gard_rare {source="GARD:20766"} synonym: "isolated respiratory chain complex disorder" EXACT [Orphanet:254846] +xref: GARD:20766 {source="MONDO:obsoleteEquivalent", source="Orphanet:254846"} xref: Orphanet:254846 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -329387,7 +342008,9 @@ is_obsolete: true id: MONDO:0016806 name: maternally-inherited mitochondrial dystonia def: "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." [Orphanet:254851] +subset: gard_rare {source="GARD:20767"} subset: ordo_disease {source="Orphanet:254851"} +xref: GARD:20767 {source="Orphanet:254851"} xref: ICD10CM:G24.8 {source="Orphanet:254851/attributed", source="Orphanet:254851/ntbt", source="Orphanet:254851"} xref: Orphanet:254851 {source="MONDO:equivalentTo"} xref: SCTID:717054001 {source="MONDO:equivalentTo"} @@ -329398,7 +342021,9 @@ is_a: MONDO:0016387 {source="Orphanet:254851"} ! mitochondrial oxidative phospho id: MONDO:0016807 name: pure mitochondrial myopathy def: "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." [Orphanet:254854] +subset: gard_rare {source="GARD:20768"} subset: ordo_disease {source="Orphanet:254854"} +xref: GARD:20768 {source="Orphanet:254854"} xref: ICD10CM:G71.3 {source="Orphanet:254854", source="Orphanet:254854/attributed", source="Orphanet:254854/ntbt"} xref: Orphanet:254854 {source="MONDO:equivalentTo"} xref: SCTID:732245008 {source="MONDO:equivalentTo"} @@ -329416,10 +342041,12 @@ replaced_by: MONDO:0014943 [Term] id: MONDO:0016809 name: spinocerebellar ataxia with epilepsy +subset: gard_rare {source="GARD:17229"} subset: ordo_disease {source="Orphanet:254881"} synonym: "mitochondrial spinocerebellar ataxia with epilepsy" EXACT [Orphanet:254881] synonym: "MSCAE" EXACT ABBREVIATION [Orphanet:254881] synonym: "SCAE" EXACT ABBREVIATION [Orphanet:254881] +xref: GARD:17229 {source="Orphanet:254881"} xref: MESH:C564395 {source="MONDO:equivalentTo"} xref: Orphanet:254881 {source="MONDO:equivalentTo"} xref: UMLS:C1843851 {source="Orphanet:254881"} @@ -329432,9 +342059,11 @@ property_value: confidence "2.0599999999999996" xsd:double id: MONDO:0016810 name: autosomal recessive progressive external ophthalmoplegia def: "Autosomal recessive form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:1191"} subset: ordo_disease {source="Orphanet:254886"} synonym: "arPEO" EXACT [Orphanet:254886] synonym: "progressive external ophthalmoplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:1191 {source="Orphanet:254886"} xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:254886", source="Orphanet:254886/attributed", source="Orphanet:254886/ntbt"} xref: MESH:C564926 {source="MONDO:equivalentTo"} xref: Orphanet:254886 {source="MONDO:equivalentTo"} @@ -329446,7 +342075,9 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0016811 name: renal tubulopathy-encephalopathy-liver failure syndrome def: "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." [Orphanet:254902] +subset: gard_rare {source="GARD:17231"} subset: ordo_disease {source="Orphanet:254902"} +xref: GARD:17231 {source="Orphanet:254902"} xref: ICD10CM:E88.8 {source="Orphanet:254902/attributed", source="Orphanet:254902/ntbt", source="Orphanet:254902"} xref: Orphanet:254902 {source="MONDO:equivalentTo"} xref: UMLS:CN202065 {source="MONDO:equivalentTo"} @@ -329459,6 +342090,7 @@ id: MONDO:0016812 name: dopa-responsive dystonia def: "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." [Orphanet:255] subset: disease_grouping +subset: gard_rare {source="GARD:12144"} subset: ordo_group_of_disorders {source="Orphanet:255"} synonym: "dopa-responsive dystonia" EXACT CLINGEN_PREFERRED [] synonym: "DYT-GCH1 (subtype)" RELATED [GARD:0009817] @@ -329469,6 +342101,7 @@ synonym: "DYT5 dystonia" EXACT [NCIT:C116719] synonym: "hereditary progressive dystonia with diurnal fluctuation" EXACT [Orphanet:255] synonym: "HPD with diurnal fluctuation" EXACT [Orphanet:255] synonym: "Segawa's disease" EXACT [NCIT:C116719] +xref: GARD:12144 {source="Orphanet:255"} xref: ICD10CM:G24.8 {source="Orphanet:255/attributed", source="Orphanet:255/ntbt", source="Orphanet:255"} xref: MESH:C538007 {source="Orphanet:255/e", source="MONDO:equivalentTo", source="Orphanet:255"} xref: NCIT:C116719 {source="MONDO:equivalentTo"} @@ -329489,6 +342122,7 @@ replaced_by: MONDO:0005846 id: MONDO:0016814 name: maternally-inherited Leigh syndrome def: "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." [Orphanet:255210] +subset: gard_rare {source="GARD:3671"} subset: ordo_disease {source="Orphanet:255210"} synonym: "Leigh disease, maternally inherited" RELATED [GARD:0003671] synonym: "maternally inherited Leigh syndrome" RELATED [GARD:0003671] @@ -329497,6 +342131,7 @@ synonym: "maternally-inherited Leigh disease" EXACT [Orphanet:255210] synonym: "MILS" EXACT ABBREVIATION [Orphanet:255210] synonym: "mitochondrial DNA-associated Leigh syndrome" RELATED [GARD:0003671] synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" RELATED [GARD:0003671] +xref: GARD:3671 {source="Orphanet:255210"} xref: ICD10CM:G31.8 {source="Orphanet:255210", source="Orphanet:255210/attributed", source="Orphanet:255210/ntbt"} xref: MESH:C536035 {source="MONDO:equivalentTo"} xref: Orphanet:255210 {source="MONDO:equivalentTo"} @@ -329510,8 +342145,10 @@ property_value: confidence "1.3333333333333335" xsd:double [Term] id: MONDO:0016815 name: obsolete Leigh syndrome with leukodystrophy +subset: gard_rare {source="GARD:17238"} synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241] synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241] +xref: GARD:17238 {source="MONDO:obsoleteEquivalent", source="Orphanet:255241"} xref: ICD10CM:G31.8 {source="Orphanet:255241/attributed", source="Orphanet:255241/ntbt", source="Orphanet:255241"} xref: Orphanet:255241 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202083 {source="MONDO:obsoleteEquivalent"} @@ -329528,8 +342165,10 @@ is_obsolete: true [Term] id: MONDO:0016816 name: obsolete Leigh syndrome with nephrotic syndrome +subset: gard_rare {source="GARD:17239"} synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249] synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249] +xref: GARD:17239 {source="MONDO:obsoleteEquivalent", source="Orphanet:255249"} xref: ICD10CM:G31.8 {source="Orphanet:255249", source="Orphanet:255249/attributed", source="Orphanet:255249/ntbt"} xref: Orphanet:255249 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202084 {source="MONDO:obsoleteEquivalent"} @@ -329545,10 +342184,12 @@ is_obsolete: true id: MONDO:0016817 name: Meier-Gorlin syndrome def: "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." [Orphanet:2554] +subset: gard_rare {source="GARD:2033"} subset: ordo_malformation_syndrome {source="Orphanet:2554"} synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306] synonym: "Meier-Gorlin syndrome" EXACT [Orphanet:2554] xref: DOID:0060306 {source="MONDO:equivalentTo"} +xref: GARD:2033 {source="Orphanet:2554"} xref: ICD10CM:Q87.1 {source="Orphanet:2554/attributed", source="Orphanet:2554/ntbt", source="Orphanet:2554"} xref: MedDRA:10070612 {source="Orphanet:2554", source="Orphanet:2554/e"} xref: MESH:C538012 {source="Orphanet:2554", source="MONDO:equivalentTo", source="DOID:0060306", source="Orphanet:2554/e"} @@ -329567,8 +342208,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016818 name: Mikati-Najjar-Sahli syndrome def: "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." [Orphanet:2558] +subset: gard_rare {source="GARD:3617"} subset: ordo_malformation_syndrome {source="Orphanet:2558"} synonym: "microcephaly-hypergonadotropic hypogonadism-short stature syndrome" EXACT [Orphanet:2558] +xref: GARD:3617 {source="Orphanet:2558"} xref: ICD10CM:E22.8 {source="Orphanet:2558", source="Orphanet:2558/attributed", source="Orphanet:2558/ntbt"} xref: Orphanet:2558 {source="MONDO:equivalentTo"} xref: UMLS:CN202088 {source="MONDO:equivalentTo"} @@ -329579,7 +342222,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare id: MONDO:0016819 name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome def: "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." [Orphanet:2560] +subset: gard_rare {source="GARD:3698"} subset: ordo_malformation_syndrome {source="Orphanet:2560"} +xref: GARD:3698 {source="Orphanet:2560"} xref: Orphanet:2560 {source="MONDO:equivalentTo"} xref: UMLS:C2931024 {source="Orphanet:2560/e", source="MONDO:equivalentTo", source="Orphanet:2560"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism @@ -329588,6 +342233,7 @@ is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotr id: MONDO:0016820 name: Moyamoya disease def: "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." [Orphanet:2573] +subset: gard_rare {source="GARD:7064"} subset: ordo_disease {source="Orphanet:2573"} synonym: "idiopathic Moyamoya disease" EXACT [Orphanet:2573] synonym: "Moyamoya disease, primary" RELATED [GARD:0007064] @@ -329595,6 +342241,7 @@ synonym: "Moyamoya disease, secondary" RELATED [GARD:0007064] synonym: "MYMY" RELATED ABBREVIATION [GARD:0007064] synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099] xref: DOID:13099 {source="MONDO:equivalentTo"} +xref: GARD:7064 {source="Orphanet:2573"} xref: ICD10CM:I67.5 {source="Orphanet:2573", source="Orphanet:2573/e", source="DOID:13099", source="Orphanet:2573/specific"} xref: ICD9:437.5 {source="DOID:13099"} xref: MedDRA:10028047 {source="Orphanet:2573", source="Orphanet:2573/e"} @@ -329630,7 +342277,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016822 name: myalgia-eosinophilia syndrome associated with tryptophan def: "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." [Orphanet:2582] +subset: gard_rare {source="GARD:18775"} subset: ordo_malformation_syndrome {source="Orphanet:2582"} +xref: GARD:18775 {source="Orphanet:2582"} xref: ICD10CM:M35.8 {source="Orphanet:2582/ntbt", source="Orphanet:2582"} xref: MedDRA:10014952 {source="Orphanet:2582/e", source="Orphanet:2582"} xref: MESH:D016603 {source="MONDO:relatedTo", source="Orphanet:2582/e", source="Orphanet:2582"} @@ -329642,8 +342291,10 @@ is_a: MONDO:0005554 {source="Orphanet:2582"} ! rheumatic disorder id: MONDO:0016823 name: mycetoma def: "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." [Orphanet:2583] +subset: gard_rare {source="GARD:3862"} subset: ordo_disease {source="Orphanet:2583"} synonym: "Madura foot" EXACT [Orphanet:2583] +xref: GARD:3862 {source="Orphanet:2583"} xref: ICD10CM:B47 {source="MONDO:equivalentTo"} xref: ICD10CM:B47.0 {source="Orphanet:2583", source="Orphanet:2583/btnt"} xref: ICD10CM:B47.1 {source="Orphanet:2583", source="Orphanet:2583/btnt"} @@ -329665,7 +342316,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575", source=" id: MONDO:0016824 name: infantile myofibromatosis def: "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C3742] -subset: gard_rare {source="GARD:0002998"} +subset: gard_rare {source="GARD:2998"} subset: ordo_disease {source="Orphanet:2591"} synonym: "IMS" RELATED ABBREVIATION [ONCOTREE:IMS] synonym: "infantile hemangiopericytoma" EXACT [NCIT:C3742] @@ -329673,6 +342324,7 @@ synonym: "infantile myofibromatosis" EXACT [NCIT:C3742] synonym: "multicentric myofibromatosis" EXACT [NCIT:C3742] synonym: "myofibromatosis" EXACT [NCIT:C3742] xref: DOID:0080109 {source="MONDO:equivalentTo"} +xref: GARD:2998 {source="Orphanet:2591"} xref: ICD10CM:D48.1 {source="Orphanet:2591/attributed", source="Orphanet:2591/ntbt", source="Orphanet:2591"} xref: ICDO:8824/1 {source="NCIT:C3742"} xref: MESH:D018224 {source="MONDO:equivalentTo"} @@ -329696,12 +342348,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2998/infanti id: MONDO:0016825 name: mitochondrial myopathy-lactic acidosis-deafness syndrome def: "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." [Orphanet:2597] -subset: gard_rare {source="GARD:0003682"} +subset: gard_rare {source="GARD:3682"} subset: ordo_disease {source="Orphanet:2597"} synonym: "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" RELATED [GARD:0003682] synonym: "mitochondrial myopathy with lactic acidosis" EXACT [MONDO:Lexical, OMIM:251950] synonym: "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" EXACT [Orphanet:2597] synonym: "MMLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251950] +xref: GARD:3682 {source="Orphanet:2597"} xref: ICD10CM:G71.3 {source="Orphanet:2597", source="Orphanet:2597/attributed", source="Orphanet:2597/ntbt"} xref: MESH:C537476 {source="Orphanet:2597", source="MONDO:equivalentTo", source="Orphanet:2597/e"} xref: OMIM:251950 {source="Orphanet:2597", source="Orphanet:2597/ntbt", source="MONDO:equivalentTo"} @@ -329716,11 +342369,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3682/mitocho id: MONDO:0016826 name: methylmalonic aciduria and homocystinuria def: "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." [https://orcid.org/0000-0001-5208-3432, Orphanet:26] -subset: gard_rare {source="GARD:0003579"} +subset: gard_rare {source="GARD:3579"} subset: ordo_disease {source="Orphanet:26"} synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis" EXACT [Orphanet:26] synonym: "methylmalonic acidemia and homocystinemia" RELATED [GARD:0003579] synonym: "methylmalonic aciduria with homocystinuria" EXACT [Orphanet:26] +xref: GARD:3579 {source="Orphanet:26"} xref: ICD10CM:E71.1 {source="Orphanet:26", source="Orphanet:26/attributed", source="Orphanet:26/ntbt"} xref: MESH:C537359 {source="MONDO:equivalentTo", source="Orphanet:26", source="Orphanet:26/e"} xref: OMIMPS:277400 {source="MONDO:equivalentTo"} @@ -329757,11 +342411,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016828 name: autosomal recessive sideroblastic anemia def: "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." [Orphanet:260305] +subset: gard_rare {source="GARD:17240"} subset: ordo_disease {source="Orphanet:260305"} synonym: "ARSA" EXACT ABBREVIATION [Orphanet:260305] synonym: "congenital sideroblastic anaemia" BROAD OMO:0003005 [] synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305] synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:17240 {source="Orphanet:260305"} xref: ICD10CM:D64.0 {source="Orphanet:260305/attributed", source="Orphanet:260305/ntbt", source="Orphanet:260305"} xref: Orphanet:260305 {source="MONDO:equivalentTo"} xref: SCTID:717050005 {source="MONDO:equivalentTo"} @@ -329776,12 +342432,14 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:260305"} ! Autosom id: MONDO:0016829 name: familial visceral myopathy def: "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." [Orphanet:2604] +subset: gard_rare {source="GARD:3443"} subset: ordo_disease {source="Orphanet:2604"} synonym: "familial hollow visceral myopathy" EXACT [Orphanet:2604] synonym: "hereditary hollow visceral myopathy" EXACT [Orphanet:2604] synonym: "megaduodenum and/or megacystis" EXACT [Orphanet:2604] synonym: "pseudoobstruction idiopathic intestinal" RELATED [GARD:0003443] synonym: "visceral myopathy familial" RELATED [GARD:0003443] +xref: GARD:3443 {source="Orphanet:2604"} xref: ICD10CM:K56.0 {source="Orphanet:2604/attributed", source="Orphanet:2604/ntbt", source="Orphanet:2604"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:2604 {source="MONDO:equivalentTo"} @@ -329798,12 +342456,14 @@ property_value: confidence "3.2857142857142856" xsd:double id: MONDO:0016830 name: Emery-Dreifuss muscular dystrophy def: "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." [Orphanet:261] +subset: gard_rare {source="GARD:6329"} subset: ordo_disease {source="Orphanet:261"} synonym: "EDMD" EXACT ABBREVIATION [DOID:11726, Orphanet:261] synonym: "Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_PREFERRED [] synonym: "Humeroperoneal neuromuscular disease, (formerly)" RELATED [GARD:0006329] synonym: "scapuloperoneal syndrome, X-linked (formerly)" RELATED [GARD:0006329] xref: DOID:11726 {source="MONDO:equivalentTo"} +xref: GARD:6329 {source="Orphanet:261"} xref: ICD10CM:G71.0 {source="Orphanet:261/inclusion", source="Orphanet:261", source="Orphanet:261/ntbt"} xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="Orphanet:261", source="Orphanet:261/e"} xref: NCIT:C84685 {source="MONDO:equivalentTo", source="DOID:11726"} @@ -329823,8 +342483,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016831 name: linear verrucous nevus syndrome +subset: gard_rare {source="GARD:3259"} subset: ordo_disease {source="Orphanet:2611"} synonym: "linear hamartoma syndrome" EXACT [Orphanet:2611] +xref: GARD:3259 {source="Orphanet:2611"} xref: ICD10CM:Q82.5 {source="Orphanet:2611", source="Orphanet:2611/ntbt"} xref: Orphanet:2611 {source="MONDO:equivalentTo"} xref: UMLS:CN202159 {source="MONDO:equivalentTo"} @@ -329835,10 +342497,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare id: MONDO:0016832 name: distal 7q11.23 microduplication syndrome def: "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." [Orphanet:261102] +subset: gard_rare {source="GARD:20770"} subset: ordo_malformation_syndrome {source="Orphanet:261102"} synonym: "distal dup(7)(q11.23)" EXACT [Orphanet:261102] synonym: "distal trisomy 7q11.23" EXACT [Orphanet:261102] synonym: "Dup7q11.23D" EXACT [Orphanet:261102] +xref: GARD:20770 {source="Orphanet:261102"} xref: Orphanet:261102 {source="MONDO:equivalentTo"} xref: UMLS:CN202160 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -329851,9 +342515,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016833 name: 14q12 microdeletion syndrome def: "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." [Orphanet:261144] +subset: gard_rare {source="GARD:20771"} subset: ordo_malformation_syndrome {source="Orphanet:261144"} synonym: "Del(14)(q12)" EXACT [Orphanet:261144] synonym: "monosomy 14q12" EXACT [Orphanet:261144] +xref: GARD:20771 {source="Orphanet:261144"} xref: ICD10CM:Q93.5 {source="Orphanet:261144", source="Orphanet:261144/attributed", source="Orphanet:261144/ntbt"} xref: Orphanet:261144 {source="MONDO:equivalentTo"} xref: SCTID:719574007 {source="MONDO:equivalentTo"} @@ -329868,6 +342534,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016834 name: 16p11.2p12.2 microduplication syndrome def: "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described." [Orphanet:261204] +subset: gard_rare {source="GARD:20772"} subset: ordo_malformation_syndrome {source="Orphanet:261204"} synonym: "16p11.2 microduplication syndrome" EXACT [DECIPHER:78, Orphanet:261204] synonym: "16p11.2-p12.2 microduplication syndrome" EXACT [DECIPHER:96] @@ -329875,6 +342542,7 @@ synonym: "dup(16)(p11.2p12.2)" EXACT [Orphanet:261204] synonym: "trisomy 16p11.2p12.2" EXACT [Orphanet:261204] xref: DECIPHER:78 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: DECIPHER:96 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:20772 {source="Orphanet:261204"} xref: Orphanet:261204 {source="MONDO:equivalentTo"} xref: SCTID:733518000 {source="MONDO:equivalentTo"} xref: UMLS:C4518821 {source="MONDO:equivalentTo"} @@ -329890,9 +342558,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016835 name: 14q11.2 microduplication syndrome def: "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." [Orphanet:261229] +subset: gard_rare {source="GARD:20773"} subset: ordo_malformation_syndrome {source="Orphanet:261229"} synonym: "dup(14)(q11.2)" EXACT [Orphanet:261229] synonym: "trisomy 14q11.2" EXACT [Orphanet:261229] +xref: GARD:20773 {source="Orphanet:261229"} xref: Orphanet:261229 {source="MONDO:equivalentTo"} xref: UMLS:CN202171 {source="MONDO:equivalentTo"} is_a: MONDO:0016964 {source="Orphanet:261229"} ! partial duplication of the long arm of chromosome 14 @@ -329904,11 +342574,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016836 name: 16p13.11 microdeletion syndrome def: "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." [Orphanet:261236] +subset: gard_rare {source="GARD:20774"} subset: ordo_malformation_syndrome {source="Orphanet:261236"} synonym: "16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)" EXACT [DECIPHER:79] synonym: "Del(16)(p13.11)" EXACT [Orphanet:261236] synonym: "monosomy 16p13.11" EXACT [Orphanet:261236] xref: DECIPHER:79 {source="MONDO:equivalentTo"} +xref: GARD:20774 {source="Orphanet:261236"} xref: ICD10CM:Q93.5 {source="Orphanet:261236/attributed", source="Orphanet:261236/ntbt", source="Orphanet:261236"} xref: Orphanet:261236 {source="MONDO:equivalentTo"} xref: SCTID:719577000 {source="MONDO:equivalentTo"} @@ -329923,12 +342595,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016837 name: 16p13.11 microduplication syndrome def: "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." [Orphanet:261243] -subset: gard_rare {source="GARD:0013392"} +subset: gard_rare {source="GARD:20775"} subset: ordo_malformation_syndrome {source="Orphanet:261243"} synonym: "16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)" EXACT [DECIPHER:80] synonym: "dup(16)(p13.11)" EXACT [Orphanet:261243] synonym: "trisomy 16p13.11" EXACT [Orphanet:261243] xref: DECIPHER:80 {source="MONDO:equivalentTo"} +xref: GARD:20775 {source="Orphanet:261243"} xref: Orphanet:261243 {source="MONDO:equivalentTo"} xref: SCTID:719578005 {source="MONDO:equivalentTo"} xref: UMLS:C4304595 {source="MONDO:equivalentTo"} @@ -329943,11 +342616,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13392/16p131 id: MONDO:0016838 name: 16q24.3 microdeletion syndrome def: "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." [Orphanet:261250] -subset: gard_rare {source="GARD:0010935"} +subset: gard_rare {source="GARD:10935"} subset: ordo_malformation_syndrome {source="Orphanet:261250"} synonym: "chromosome 16q24.3 microdeletion syndrome" RELATED [GARD:0010935] synonym: "Del(16)(q24.3)" EXACT [Orphanet:261250] synonym: "monosomy 16q24.3" EXACT [Orphanet:261250] +xref: GARD:10935 {source="Orphanet:261250"} xref: ICD10CM:Q93.5 {source="Orphanet:261250/attributed", source="Orphanet:261250/ntbt", source="Orphanet:261250"} xref: Orphanet:261250 {source="MONDO:equivalentTo"} xref: SCTID:719580004 {source="MONDO:equivalentTo"} @@ -329963,9 +342637,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10935/16q243 id: MONDO:0016839 name: distal 17p13.3 microdeletion syndrome def: "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." [Orphanet:261257] +subset: gard_rare {source="GARD:20776"} subset: ordo_malformation_syndrome {source="Orphanet:261257"} synonym: "distal del(17)(p13.3)" EXACT [Orphanet:261257] synonym: "distal monosomy 17p13.3" EXACT [Orphanet:261257] +xref: GARD:20776 {source="Orphanet:261257"} xref: ICD10CM:Q93.5 {source="Orphanet:261257", source="Orphanet:261257/attributed", source="Orphanet:261257/ntbt"} xref: Orphanet:261257 {source="MONDO:equivalentTo"} xref: SCTID:764696007 {source="MONDO:equivalentTo"} @@ -329979,6 +342655,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016840 name: trisomy 17p def: "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." [Orphanet:261290] +subset: gard_rare {source="GARD:5318"} subset: ordo_malformation_syndrome {source="Orphanet:261290"} synonym: "17p duplication" RELATED [GARD:0005318] synonym: "17p trisomy" RELATED [GARD:0005318] @@ -329987,6 +342664,7 @@ synonym: "dup(17p)" EXACT [Orphanet:261290] synonym: "Duplication 17p" RELATED [GARD:0005318] synonym: "partial trisomy 17p" RELATED [GARD:0005318] synonym: "trisomy type 17p" EXACT [MONDORULE:4, Orphanet:261290] +xref: GARD:5318 {source="Orphanet:261290"} xref: ICD10CM:Q92.2 {source="Orphanet:261290/attributed", source="Orphanet:261290/ntbt", source="Orphanet:261290"} xref: MESH:C538048 {source="MONDO:equivalentTo"} xref: Orphanet:261290 {source="MONDO:equivalentTo"} @@ -329998,10 +342676,11 @@ is_a: MONDO:0016950 {source="Orphanet:261290"} ! partial duplication of the shor id: MONDO:0016841 name: 20p12.3 microdeletion syndrome def: "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism." [Orphanet:261295] -subset: gard_rare {source="GARD:0012492"} +subset: gard_rare {source="GARD:12492"} subset: ordo_malformation_syndrome {source="Orphanet:261295"} synonym: "Del(20)(p12.3)" EXACT [Orphanet:261295] synonym: "monosomy 20p12.3" EXACT [Orphanet:261295] +xref: GARD:12492 {source="Orphanet:261295"} xref: ICD10CM:Q93.5 {source="Orphanet:261295", source="Orphanet:261295/attributed", source="Orphanet:261295/ntbt"} xref: Orphanet:261295 {source="MONDO:equivalentTo"} xref: SCTID:719650004 {source="MONDO:equivalentTo"} @@ -330017,11 +342696,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12492/20p123 id: MONDO:0016842 name: paternal 20q13.2q13.3 microdeletion syndrome def: "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." [Orphanet:261304] +subset: gard_rare {source="GARD:20777"} subset: ordo_malformation_syndrome {source="Orphanet:261304"} synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [Orphanet:261304] synonym: "paternal del(20)(q13.2q13.3)" EXACT [Orphanet:261304] synonym: "paternal monosomy 20q13.2-q13.3" EXACT [Orphanet:261304] synonym: "paternal monosomy 20q13.2q13.3" EXACT [Orphanet:261304] +xref: GARD:20777 {source="Orphanet:261304"} xref: ICD10CM:Q93.5 {source="Orphanet:261304/attributed", source="Orphanet:261304/ntbt", source="Orphanet:261304"} xref: Orphanet:261304 {source="MONDO:equivalentTo"} xref: SCTID:724070005 {source="MONDO:equivalentTo"} @@ -330036,9 +342717,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016843 name: 20q13.33 microdeletion syndrome def: "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated." [Orphanet:261311] +subset: gard_rare {source="GARD:20778"} subset: ordo_malformation_syndrome {source="Orphanet:261311"} synonym: "Del(20)(q13.33)" EXACT [Orphanet:261311] synonym: "monosomy 20q13.33" EXACT [Orphanet:261311] +xref: GARD:20778 {source="Orphanet:261311"} xref: ICD10CM:Q93.5 {source="Orphanet:261311", source="Orphanet:261311/attributed", source="Orphanet:261311/ntbt"} xref: Orphanet:261311 {source="MONDO:equivalentTo"} xref: SCTID:733520002 {source="MONDO:equivalentTo"} @@ -330053,7 +342736,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016844 name: trisomy 20p def: "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." [Orphanet:261318] -subset: gard_rare +subset: gard_rare {source="GARD:5333"} subset: ordo_malformation_syndrome {source="Orphanet:261318"} synonym: "20p duplication" RELATED [GARD:0005333] synonym: "20p trisomy" RELATED [GARD:0005333] @@ -330068,6 +342751,7 @@ synonym: "partial trisomy of chromosome 20p" EXACT [Orphanet:261318] synonym: "partial trisomy of the short arm of chromosome 20" EXACT [Orphanet:261318] synonym: "trisomy 20p" EXACT [GARD:0005333] synonym: "trisomy type 20p" EXACT [MONDORULE:4, Orphanet:261318] +xref: GARD:5333 {source="Orphanet:261318"} xref: ICD10CM:Q92.2 {source="Orphanet:261318/attributed", source="Orphanet:261318/ntbt", source="Orphanet:261318"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535371 {source="MONDO:equivalentTo"} @@ -330080,11 +342764,13 @@ is_a: MONDO:0016938 {source="Orphanet:261318"} ! partial trisomy of chromosome 2 [Term] id: MONDO:0016845 name: 21q22.11q22.12 microdeletion syndrome +subset: gard_rare {source="GARD:20779"} subset: ordo_malformation_syndrome {source="Orphanet:261323"} synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [Orphanet:261323] synonym: "Del(21)(q22.11q22.12)" EXACT [Orphanet:261323] synonym: "monosomy 21q22.11-q22.12" EXACT [Orphanet:261323] synonym: "monosomy 21q22.11q22.12" EXACT [Orphanet:261323] +xref: GARD:20779 {source="Orphanet:261323"} xref: ICD10CM:Q93.5 {source="Orphanet:261323", source="Orphanet:261323/attributed", source="Orphanet:261323/ntbt"} xref: Orphanet:261323 {source="MONDO:equivalentTo"} xref: UMLS:CN202185 {source="MONDO:equivalentTo"} @@ -330098,9 +342784,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016846 name: distal 22q11.2 microduplication syndrome def: "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." [Orphanet:261337] +subset: gard_rare {source="GARD:20780"} subset: ordo_malformation_syndrome {source="Orphanet:261337"} synonym: "distal dup(22)(q11.2)" EXACT [Orphanet:261337] synonym: "distal trisomy 22q11.2" EXACT [Orphanet:261337] +xref: GARD:20780 {source="Orphanet:261337"} xref: Orphanet:261337 {source="MONDO:equivalentTo"} xref: SCTID:764524005 {source="MONDO:equivalentTo"} xref: UMLS:CN202187 {source="MONDO:equivalentTo"} @@ -330114,9 +342802,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016847 name: trisomy 1q def: "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." [Orphanet:261344] +subset: gard_rare {source="GARD:20781"} subset: ordo_malformation_syndrome {source="Orphanet:261344"} synonym: "Duplication 1q" EXACT [Orphanet:261344] synonym: "trisomy type 1q" EXACT [MONDORULE:4, Orphanet:261344] +xref: GARD:20781 {source="Orphanet:261344"} xref: ICD10CM:Q92.2 {source="Orphanet:261344", source="Orphanet:261344/attributed", source="Orphanet:261344/ntbt"} xref: Orphanet:261344 {source="MONDO:equivalentTo"} xref: SCTID:768927001 {source="MONDO:equivalentTo"} @@ -330126,7 +342816,7 @@ is_a: MONDO:0016952 {source="Orphanet:261344"} ! partial duplication of the long id: MONDO:0016848 name: juvenile temporal arteritis def: "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis] -subset: gard_rare {source="GARD:0003068"} +subset: gard_rare {source="GARD:3068"} subset: ordo_disease {source="Orphanet:26137"} synonym: "JGCA" RELATED ABBREVIATION [GARD:0003068] synonym: "JPMR" RELATED ABBREVIATION [GARD:0003068] @@ -330135,6 +342825,7 @@ synonym: "juvenile cranial arteritis" RELATED [GARD:0003068] synonym: "juvenile giant cell arteritis" RELATED [GARD:0003068] synonym: "juvenile polymyalgia rheumatica" RELATED [GARD:0003068] synonym: "non-giant cell granulomatous temporal arteritis with eosinophilia" EXACT [Orphanet:26137] +xref: GARD:3068 {source="Orphanet:26137"} xref: ICD10CM:L95.8 {source="Orphanet:26137/ntbt", source="Orphanet:26137"} xref: Orphanet:26137 {source="MONDO:equivalentTo"} xref: SCTID:722020006 {source="MONDO:equivalentTo"} @@ -330158,9 +342849,11 @@ replaced_by: MONDO:0009726 id: MONDO:0016850 name: atypical Norrie disease due to monosomy Xp11.3 def: "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." [Orphanet:261501] +subset: gard_rare {source="GARD:20782"} subset: ordo_malformation_syndrome {source="Orphanet:261501"} synonym: "atypical Norrie disease due to del(X)(p11.3)" EXACT [Orphanet:261501] synonym: "atypical Norrie disease due to Xp11.3 microdeletion" EXACT [Orphanet:261501] +xref: GARD:20782 {source="Orphanet:261501"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:261501", source="Orphanet:261501/attributed", source="Orphanet:261501/ntbt"} xref: Orphanet:261501 {source="MONDO:equivalentTo"} xref: SCTID:733626002 {source="MONDO:equivalentTo"} @@ -330174,9 +342867,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016851 name: maternal uniparental disomy of chromosome X +subset: gard_rare {source="GARD:20783"} subset: ordo_malformation_syndrome {source="Orphanet:261519"} synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261519] synonym: "UPD(X)mat" EXACT [Orphanet:261519] +xref: GARD:20783 {source="Orphanet:261519"} xref: ICD10CM:Q99.8 {source="Orphanet:261519/attributed", source="Orphanet:261519/ntbt", source="Orphanet:261519"} xref: Orphanet:261519 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -330185,9 +342880,11 @@ relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid [Term] id: MONDO:0016852 name: paternal uniparental disomy of chromosome X +subset: gard_rare {source="GARD:20784"} subset: ordo_malformation_syndrome {source="Orphanet:261524"} synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261524] synonym: "UPD(X)pat" EXACT [Orphanet:261524] +xref: GARD:20784 {source="Orphanet:261524"} xref: ICD10CM:Q99.8 {source="Orphanet:261524/attributed", source="Orphanet:261524/ntbt", source="Orphanet:261524"} xref: Orphanet:261524 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -330197,10 +342894,12 @@ relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid id: MONDO:0016853 name: ring chromosome Y def: "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." [Orphanet:261529] +subset: gard_rare {source="GARD:20785"} subset: ordo_malformation_syndrome {source="Orphanet:261529"} synonym: "r(Y)" EXACT [Orphanet:261529] synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529] synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529] +xref: GARD:20785 {source="Orphanet:261529"} xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="Orphanet:261529/attributed", source="Orphanet:261529/ntbt"} xref: Orphanet:261529 {source="MONDO:equivalentTo"} xref: SCTID:763407008 {source="MONDO:equivalentTo"} @@ -330211,10 +342910,11 @@ intersection_of: disease_arises_from_structure CHR:9606-chrY ! chromosome Y (Hum id: MONDO:0016854 name: 49,XXXYY syndrome def: "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome] -subset: gard_rare {source="GARD:0010922"} +subset: gard_rare {source="GARD:10922"} subset: ordo_malformation_syndrome {source="Orphanet:261534"} synonym: "49, XXXYY syndrome" RELATED [GARD:0010922] synonym: "XXXYY syndrome" RELATED [GARD:0010922] +xref: GARD:10922 {source="Orphanet:261534"} xref: ICD10CM:Q98.8 {source="Orphanet:261534", source="Orphanet:261534/attributed", source="Orphanet:261534/ntbt"} xref: Orphanet:261534 {source="MONDO:equivalentTo"} xref: UMLS:CN202197 {source="MONDO:equivalentTo"} @@ -330227,6 +342927,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10922/49-xxx [Term] id: MONDO:0016855 name: Mowat-Wilson syndrome due to monosomy 2q22 +subset: gard_rare {source="GARD:17248"} subset: ordo_etiological_subtype {source="Orphanet:261537"} synonym: "Hirschsprung disease and intellectual disability due to 2q22 microdeletion" EXACT [Orphanet:261537] synonym: "Hirschsprung disease and intellectual disability due to del(2)(q22)" EXACT [Orphanet:261537] @@ -330234,6 +342935,7 @@ synonym: "Hirschsprung disease and intellectual disability due to monosomy 2q22" synonym: "Mowat-Wilson syndrome due to 2q22 microdeletion" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to del(2)q(22)" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7, Orphanet:261537] +xref: GARD:17248 {source="Orphanet:261537"} xref: ICD10CM:Q43.1 {source="Orphanet:261537/attributed", source="Orphanet:261537/ntbt", source="Orphanet:261537"} xref: Orphanet:261537 {source="MONDO:equivalentTo"} xref: UMLS:CN202198 {source="MONDO:equivalentTo"} @@ -330248,8 +342950,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016856 name: Mowat-Wilson syndrome due to a ZEB2 point mutation +subset: gard_rare {source="GARD:17249"} subset: ordo_etiological_subtype {source="Orphanet:261552"} synonym: "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation" EXACT [Orphanet:261552] +xref: GARD:17249 {source="Orphanet:261552"} xref: ICD10CM:Q43.1 {source="Orphanet:261552", source="Orphanet:261552/attributed", source="Orphanet:261552/ntbt"} xref: Orphanet:261552 {source="MONDO:equivalentTo"} xref: UMLS:CN202199 {source="MONDO:equivalentTo"} @@ -330304,12 +343008,14 @@ property_value: confidence "0.6131687242798349" xsd:double [Term] id: MONDO:0016860 name: familial adenomatous polyposis due to 5q22.2 microdeletion +subset: gard_rare {source="GARD:20786"} subset: ordo_etiological_subtype {source="Orphanet:261584"} synonym: "colorectal adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584] synonym: "familial adenomatous polyposis due to del(5)(q22.2)" EXACT [Orphanet:261584] synonym: "familial adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584] synonym: "familial polyposis coli due to monosomy 5q22.2" EXACT [Orphanet:261584] synonym: "FAP due to monosomy 5q22.2" EXACT [Orphanet:261584] +xref: GARD:20786 {source="Orphanet:261584"} xref: ICD10CM:D12.6 {source="Orphanet:261584", source="Orphanet:261584/attributed", source="Orphanet:261584/ntbt"} xref: Orphanet:261584 {source="MONDO:equivalentTo"} xref: UMLS:CN202203 {source="MONDO:equivalentTo"} @@ -330322,12 +343028,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016861 name: Alagille syndrome due to 20p12 microdeletion +subset: gard_rare {source="GARD:17250"} subset: ordo_etiological_subtype {source="Orphanet:261600"} synonym: "Alagille syndrome due to del(20)(p12)" EXACT [Orphanet:261600] synonym: "Alagille syndrome due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "Alagille-Watson syndrome due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "Arteriohepatic dysplasia due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "syndromic bile duct paucity due to monosomy 20p12" EXACT [Orphanet:261600] +xref: GARD:17250 {source="Orphanet:261600"} xref: ICD10CM:Q44.7 {source="Orphanet:261600", source="Orphanet:261600/attributed", source="Orphanet:261600/ntbt"} xref: Orphanet:261600 {source="MONDO:equivalentTo"} xref: UMLS:CN202205 {source="MONDO:equivalentTo"} @@ -330341,6 +343049,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016862 name: Alagille syndrome due to a JAG1 point mutation +subset: gard_rare {source="GARD:17251"} subset: ordo_etiological_subtype {source="Orphanet:261619"} synonym: "Alagille syndrome 1" RELATED [MONDO:Lexical, OMIM:118450] synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT CLINGEN_PREFERRED [] @@ -330353,6 +343062,7 @@ synonym: "arteriohepatic dysplasia due to a JAG1 point mutation" EXACT [Orphanet synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [OMIM:118450] synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [OMIM:118450] synonym: "syndromic bile duct paucity due to a JAG1 point mutation" EXACT [Orphanet:261619] +xref: GARD:17251 {source="Orphanet:261619"} xref: ICD10CM:Q44.7 {source="Orphanet:261619", source="Orphanet:261619/attributed", source="Orphanet:261619/ntbt"} xref: OMIM:118450 {source="Orphanet:261619", source="Orphanet:261619/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:261619 {source="MONDO:equivalentTo"} @@ -330366,10 +343076,12 @@ property_value: confidence "0.6448275862068966" xsd:double [Term] id: MONDO:0016863 name: Okihiro syndrome due to 20q13 microdeletion +subset: gard_rare {source="GARD:20787"} subset: ordo_etiological_subtype {source="Orphanet:261638"} synonym: "Duane-radial ray syndrome due to monosomy 20q13" EXACT [Orphanet:261638] synonym: "Okihiro syndrome due to del(20)(q13)" EXACT [Orphanet:261638] synonym: "Okihiro syndrome due to monosomy 20q13" EXACT [Orphanet:261638] +xref: GARD:20787 {source="Orphanet:261638"} xref: ICD10CM:Q87.8 {source="Orphanet:261638", source="Orphanet:261638/attributed", source="Orphanet:261638/ntbt"} xref: Orphanet:261638 {source="MONDO:equivalentTo"} xref: UMLS:CN202208 {source="MONDO:equivalentTo"} @@ -330382,8 +343094,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016864 name: Okihiro syndrome due to a point mutation +subset: gard_rare {source="GARD:20788"} subset: ordo_etiological_subtype {source="Orphanet:261647"} synonym: "Duane-radial ray syndrome due to a point mutation" EXACT [Orphanet:261647] +xref: GARD:20788 {source="Orphanet:261647"} xref: ICD10CM:Q87.8 {source="Orphanet:261647/attributed", source="Orphanet:261647/ntbt", source="Orphanet:261647"} xref: Orphanet:261647 {source="MONDO:equivalentTo"} xref: UMLS:CN202209 {source="MONDO:equivalentTo"} @@ -330393,7 +343107,9 @@ relationship: has_characteristic SO:1000008 ! point_mutation [Term] id: MONDO:0016865 name: Kleefstra syndrome due to a point mutation +subset: gard_rare {source="GARD:17253"} subset: ordo_etiological_subtype {source="Orphanet:261652"} +xref: GARD:17253 {source="Orphanet:261652"} xref: ICD10CM:Q87.8 {source="Orphanet:261652", source="Orphanet:261652/attributed", source="Orphanet:261652/ntbt"} xref: Orphanet:261652 {source="MONDO:equivalentTo"} xref: UMLS:CN202210 {source="MONDO:equivalentTo"} @@ -330404,9 +343120,11 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0016866 name: partial deletion of chromosome 1 subset: disease_grouping +subset: gard_rare {source="GARD:20789"} subset: ordo_group_of_disorders {source="Orphanet:261766"} synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261766] synonym: "partial monosomy of chromosome 1" EXACT [Orphanet:261766] +xref: GARD:20789 {source="Orphanet:261766"} xref: ICD10CM:Q93.5 {source="Orphanet:261766/attributed", source="Orphanet:261766/ntbt", source="Orphanet:261766"} xref: Orphanet:261766 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330417,9 +343135,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016867 name: partial deletion of chromosome 2 subset: disease_grouping +subset: gard_rare {source="GARD:20790"} subset: ordo_group_of_disorders {source="Orphanet:261771"} synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261771] synonym: "partial monosomy of chromosome 2" EXACT [Orphanet:261771] +xref: GARD:20790 {source="Orphanet:261771"} xref: ICD10CM:Q93.5 {source="Orphanet:261771", source="Orphanet:261771/attributed", source="Orphanet:261771/ntbt"} xref: Orphanet:261771 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330430,9 +343150,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016868 name: partial deletion of chromosome 3 subset: disease_grouping +subset: gard_rare {source="GARD:20791"} subset: ordo_group_of_disorders {source="Orphanet:261776"} synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261776] synonym: "partial monosomy of chromosome 3" EXACT [Orphanet:261776] +xref: GARD:20791 {source="Orphanet:261776"} xref: ICD10CM:Q93.5 {source="Orphanet:261776", source="Orphanet:261776/attributed", source="Orphanet:261776/ntbt"} xref: Orphanet:261776 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330443,9 +343165,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016869 name: partial deletion of chromosome 4 subset: disease_grouping +subset: gard_rare {source="GARD:20792"} subset: ordo_group_of_disorders {source="Orphanet:261781"} synonym: "partial deletion of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261781] synonym: "partial monosomy of chromosome 4" EXACT [Orphanet:261781] +xref: GARD:20792 {source="Orphanet:261781"} xref: Orphanet:261781 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human) @@ -330455,9 +343179,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016870 name: partial deletion of chromosome 5 subset: disease_grouping +subset: gard_rare {source="GARD:20793"} subset: ordo_group_of_disorders {source="Orphanet:261786"} synonym: "partial deletion of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261786] synonym: "partial monosomy of chromosome 5" EXACT [Orphanet:261786] +xref: GARD:20793 {source="Orphanet:261786"} xref: Orphanet:261786 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human) @@ -330467,9 +343193,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016871 name: partial deletion of chromosome 6 subset: disease_grouping +subset: gard_rare {source="GARD:20794"} subset: ordo_group_of_disorders {source="Orphanet:261791"} synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261791] synonym: "partial monosomy of chromosome 6" EXACT [Orphanet:261791] +xref: GARD:20794 {source="Orphanet:261791"} xref: ICD10CM:Q93.5 {source="Orphanet:261791/attributed", source="Orphanet:261791/ntbt", source="Orphanet:261791"} xref: Orphanet:261791 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330480,9 +343208,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016872 name: partial deletion of chromosome 7 subset: disease_grouping +subset: gard_rare {source="GARD:20795"} subset: ordo_group_of_disorders {source="Orphanet:261796"} synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261796] synonym: "partial monosomy of chromosome 7" EXACT [Orphanet:261796] +xref: GARD:20795 {source="Orphanet:261796"} xref: ICD10CM:Q93.5 {source="Orphanet:261796", source="Orphanet:261796/attributed", source="Orphanet:261796/ntbt"} xref: Orphanet:261796 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330493,9 +343223,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016873 name: partial deletion of chromosome 8 subset: disease_grouping +subset: gard_rare {source="GARD:20796"} subset: ordo_group_of_disorders {source="Orphanet:261801"} synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261801] synonym: "partial monosomy of chromosome 8" EXACT [Orphanet:261801] +xref: GARD:20796 {source="Orphanet:261801"} xref: ICD10CM:Q93.5 {source="Orphanet:261801/attributed", source="Orphanet:261801/ntbt", source="Orphanet:261801"} xref: Orphanet:261801 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330506,9 +343238,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016874 name: partial deletion of chromosome 9 subset: disease_grouping +subset: gard_rare {source="GARD:20797"} subset: ordo_group_of_disorders {source="Orphanet:261806"} synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261806] synonym: "partial monosomy of chromosome 9" EXACT [Orphanet:261806] +xref: GARD:20797 {source="Orphanet:261806"} xref: ICD10CM:Q93.5 {source="Orphanet:261806", source="Orphanet:261806/attributed", source="Orphanet:261806/ntbt"} xref: Orphanet:261806 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330519,8 +343253,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016875 name: partial deletion of chromosome 10 subset: disease_grouping +subset: gard_rare {source="GARD:20798"} subset: ordo_group_of_disorders synonym: "partial monosomy of chromosome 10" EXACT [Orphanet:261811] +xref: GARD:20798 {source="Orphanet:261811"} xref: ICD10CM:Q93.5 {source="Orphanet:261811"} xref: Orphanet:261811 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330531,9 +343267,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016876 name: partial deletion of chromosome 11 subset: disease_grouping +subset: gard_rare {source="GARD:20799"} subset: ordo_group_of_disorders {source="Orphanet:261816"} synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261816] synonym: "partial monosomy of chromosome 11" EXACT [Orphanet:261816] +xref: GARD:20799 {source="Orphanet:261816"} xref: ICD10CM:Q93.5 {source="Orphanet:261816/attributed", source="Orphanet:261816/ntbt", source="Orphanet:261816"} xref: Orphanet:261816 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330544,11 +343282,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016877 name: partial deletion of the long arm of chromosome 12 subset: disease_grouping +subset: gard_rare {source="GARD:20800"} subset: ordo_group_of_disorders {source="Orphanet:261821"} synonym: "partial deletion of chromosome 12q" EXACT [Orphanet:261821] synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:261821] synonym: "partial monosomy of chromosome 12q" EXACT [Orphanet:261821] synonym: "partial monosomy of the long arm of chromosome 12" EXACT [Orphanet:261821] +xref: GARD:20800 {source="Orphanet:261821"} xref: ICD10CM:Q93.5 {source="Orphanet:261821/attributed", source="Orphanet:261821/ntbt", source="Orphanet:261821"} xref: Orphanet:261821 {source="MONDO:equivalentTo"} is_a: MONDO:0017277 {source="Orphanet:261821"} ! partial deletion of chromosome 12 @@ -330560,9 +343300,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016878 name: partial deletion of chromosome 16 subset: disease_grouping +subset: gard_rare {source="GARD:20801"} subset: ordo_group_of_disorders {source="Orphanet:261826"} synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261826] synonym: "partial monosomy of chromosome 16" EXACT [Orphanet:261826] +xref: GARD:20801 {source="Orphanet:261826"} xref: ICD10CM:Q93.5 {source="Orphanet:261826", source="Orphanet:261826/attributed", source="Orphanet:261826/ntbt"} xref: Orphanet:261826 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330573,9 +343315,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016879 name: partial deletion of chromosome 17 subset: disease_grouping +subset: gard_rare {source="GARD:20802"} subset: ordo_group_of_disorders {source="Orphanet:261831"} synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261831] synonym: "partial monosomy of chromosome 17" EXACT [Orphanet:261831] +xref: GARD:20802 {source="Orphanet:261831"} xref: ICD10CM:Q93.5 {source="Orphanet:261831", source="Orphanet:261831/attributed", source="Orphanet:261831/ntbt"} xref: Orphanet:261831 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330586,9 +343330,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016880 name: partial deletion of chromosome 18 subset: disease_grouping +subset: gard_rare {source="GARD:20803"} subset: ordo_group_of_disorders {source="Orphanet:261836"} synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261836] synonym: "partial monosomy of chromosome 18" EXACT [Orphanet:261836] +xref: GARD:20803 {source="Orphanet:261836"} xref: ICD10CM:Q93.5 {source="Orphanet:261836", source="Orphanet:261836/attributed", source="Orphanet:261836/ntbt"} xref: Orphanet:261836 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330599,9 +343345,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016881 name: partial deletion of chromosome 19 subset: disease_grouping +subset: gard_rare {source="GARD:20804"} subset: ordo_group_of_disorders {source="Orphanet:261841"} synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261841] synonym: "partial monosomy of chromosome 19" EXACT [Orphanet:261841] +xref: GARD:20804 {source="Orphanet:261841"} xref: ICD10CM:Q93.5 {source="Orphanet:261841/attributed", source="Orphanet:261841/ntbt", source="Orphanet:261841"} xref: Orphanet:261841 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330612,9 +343360,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016882 name: partial deletion of chromosome 20 subset: disease_grouping +subset: gard_rare {source="GARD:20805"} subset: ordo_group_of_disorders {source="Orphanet:261846"} synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261846] synonym: "partial monosomy of chromosome 20" EXACT [Orphanet:261846] +xref: GARD:20805 {source="Orphanet:261846"} xref: ICD10CM:Q93.5 {source="Orphanet:261846/attributed", source="Orphanet:261846/ntbt", source="Orphanet:261846"} xref: Orphanet:261846 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330626,7 +343376,7 @@ id: MONDO:0016883 name: partial deletion of the short arm of chromosome 1 def: "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003730] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20806"} subset: ordo_group_of_disorders {source="Orphanet:261857"} synonym: "1p deletion" RELATED [GARD:0003730] synonym: "1p monosomy" RELATED [GARD:0003730] @@ -330640,6 +343390,7 @@ synonym: "partial deletion of the short arm of chromosome type 1" EXACT [MONDORU synonym: "partial monosomy 1p" RELATED [GARD:0003730] synonym: "partial monosomy of chromosome 1p" EXACT [Orphanet:261857] synonym: "partial monosomy of the short arm of chromosome 1" EXACT [Orphanet:261857] +xref: GARD:20806 {source="Orphanet:261857"} xref: ICD10CM:Q93.5 {source="Orphanet:261857/attributed", source="Orphanet:261857/ntbt", source="Orphanet:261857"} xref: MESH:C535591 {source="MONDO:equivalentTo"} xref: NCIT:C36501 {source="MONDO:relatedTo"} @@ -330654,11 +343405,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016884 name: partial deletion of the short arm of chromosome 2 subset: disease_grouping +subset: gard_rare {source="GARD:20807"} subset: ordo_group_of_disorders {source="Orphanet:261866"} synonym: "partial deletion of chromosome 2p" EXACT [Orphanet:261866] synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261866] synonym: "partial monosomy of chromosome 2p" EXACT [Orphanet:261866] synonym: "partial monosomy of the short arm of chromosome 2" EXACT [Orphanet:261866] +xref: GARD:20807 {source="Orphanet:261866"} xref: ICD10CM:Q93.5 {source="Orphanet:261866/attributed", source="Orphanet:261866/ntbt", source="Orphanet:261866"} xref: Orphanet:261866 {source="MONDO:equivalentTo"} is_a: MONDO:0016867 {source="Orphanet:261866"} ! partial deletion of chromosome 2 @@ -330670,11 +343423,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016885 name: partial deletion of the short arm of chromosome 3 subset: disease_grouping +subset: gard_rare {source="GARD:37"} subset: ordo_group_of_disorders {source="Orphanet:261875"} synonym: "partial deletion of chromosome 3p" EXACT [Orphanet:261875] synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261875] synonym: "partial monosomy of chromosome 3p" EXACT [Orphanet:261875] synonym: "partial monosomy of the short arm of chromosome 3" EXACT [Orphanet:261875] +xref: GARD:37 {source="Orphanet:261875"} xref: ICD10CM:Q93.5 {source="Orphanet:261875", source="Orphanet:261875/attributed", source="Orphanet:261875/ntbt"} xref: Orphanet:261875 {source="MONDO:equivalentTo"} is_a: MONDO:0016868 {source="Orphanet:261875"} ! partial deletion of chromosome 3 @@ -330694,11 +343449,13 @@ replaced_by: MONDO:0022762 id: MONDO:0016887 name: partial deletion of the short arm of chromosome 5 subset: disease_grouping +subset: gard_rare {source="GARD:20809"} subset: ordo_group_of_disorders {source="Orphanet:261893"} synonym: "partial deletion of chromosome 5p" EXACT [Orphanet:261893] synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261893] synonym: "partial monosomy of chromosome 5p" EXACT [Orphanet:261893] synonym: "partial monosomy of the short arm of chromosome 5" EXACT [Orphanet:261893] +xref: GARD:20809 {source="Orphanet:261893"} xref: ICD10CM:Q93.4 {source="Orphanet:261893", source="Orphanet:261893/specific", source="Orphanet:261893/e"} xref: Orphanet:261893 {source="MONDO:equivalentTo"} xref: UMLS:C0010314 {source="Orphanet:261893"} @@ -330711,11 +343468,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016888 name: partial deletion of the short arm of chromosome 6 subset: disease_grouping +subset: gard_rare {source="GARD:20810"} subset: ordo_group_of_disorders {source="Orphanet:261902"} synonym: "partial deletion of chromosome 6p" EXACT [Orphanet:261902] synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261902] synonym: "partial monosomy of chromosome 6p" EXACT [Orphanet:261902] synonym: "partial monosomy of the short arm of chromosome 6" EXACT [Orphanet:261902] +xref: GARD:20810 {source="Orphanet:261902"} xref: ICD10CM:Q93.5 {source="Orphanet:261902", source="Orphanet:261902/attributed", source="Orphanet:261902/ntbt"} xref: Orphanet:261902 {source="MONDO:equivalentTo"} is_a: MONDO:0016871 {source="Orphanet:261902"} ! partial deletion of chromosome 6 @@ -330728,7 +343487,7 @@ id: MONDO:0016889 name: partial deletion of the short arm of chromosome 7 def: "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001346] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20811"} subset: ordo_group_of_disorders {source="Orphanet:261911"} synonym: "7p deletion" RELATED [GARD:0001346] synonym: "7p monosomy" RELATED [GARD:0001346] @@ -330740,6 +343499,7 @@ synonym: "partial deletion of the short arm of chromosome type 7" EXACT [MONDORU synonym: "partial monosomy 7p" RELATED [GARD:0001346] synonym: "partial monosomy of chromosome 7p" EXACT [Orphanet:261911] synonym: "partial monosomy of the short arm of chromosome 7" EXACT [Orphanet:261911] +xref: GARD:20811 {source="Orphanet:261911"} xref: ICD10CM:Q93.5 {source="Orphanet:261911/attributed", source="Orphanet:261911/ntbt", source="Orphanet:261911"} xref: Orphanet:261911 {source="MONDO:equivalentTo"} is_a: MONDO:0016872 {source="Orphanet:261911"} ! partial deletion of chromosome 7 @@ -330752,7 +343512,7 @@ id: MONDO:0016890 name: partial deletion of the short arm of chromosome 8 def: "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003768] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20812"} subset: ordo_group_of_disorders {source="Orphanet:261920"} synonym: "8p deletion" RELATED [GARD:0003768] synonym: "8p monosomy" RELATED [GARD:0003768] @@ -330764,6 +343524,7 @@ synonym: "partial deletion of the short arm of chromosome type 8" EXACT [MONDORU synonym: "partial monosomy 8p" RELATED [GARD:0003768] synonym: "partial monosomy of chromosome 8p" EXACT [Orphanet:261920] synonym: "partial monosomy of the short arm of chromosome 8" EXACT [Orphanet:261920] +xref: GARD:20812 {source="Orphanet:261920"} xref: ICD10CM:Q93.5 {source="Orphanet:261920/attributed", source="Orphanet:261920/ntbt", source="Orphanet:261920"} xref: MESH:C537826 {source="MONDO:equivalentTo"} xref: Orphanet:261920 {source="MONDO:equivalentTo"} @@ -330778,6 +343539,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0016891 name: obsolete partial deletion of the short arm of chromosome 9 +subset: gard_rare {source="GARD:20813"} +xref: GARD:20813 {source="MONDO:obsoleteEquivalent", source="Orphanet:261929"} xref: Orphanet:261929 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI @@ -330788,11 +343551,13 @@ replaced_by: MONDO:0008013 id: MONDO:0016892 name: partial deletion of the short arm of chromosome 10 subset: disease_grouping +subset: gard_rare {source="GARD:20814"} subset: ordo_group_of_disorders {source="Orphanet:261938"} synonym: "partial deletion of chromosome 10p" EXACT [Orphanet:261938] synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:261938] synonym: "partial monosomy of chromosome 10p" EXACT [Orphanet:261938] synonym: "partial monosomy of the short arm of chromosome 10" EXACT [Orphanet:261938] +xref: GARD:20814 {source="Orphanet:261938"} xref: ICD10CM:Q93.5 {source="Orphanet:261938", source="Orphanet:261938/attributed", source="Orphanet:261938/ntbt"} xref: Orphanet:261938 {source="MONDO:equivalentTo"} xref: UMLS:C0795836 {source="Orphanet:261938", source="MONDO:equivalentTo", source="Orphanet:261938/e"} @@ -330805,11 +343570,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016893 name: partial deletion of the short arm of chromosome 11 subset: disease_grouping +subset: gard_rare {source="GARD:20815"} subset: ordo_group_of_disorders {source="Orphanet:261947"} synonym: "partial deletion of chromosome 11p" EXACT [Orphanet:261947] synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261947] synonym: "partial monosomy of chromosome 11p" EXACT [Orphanet:261947] synonym: "partial monosomy of the short arm of chromosome 11" EXACT [Orphanet:261947] +xref: GARD:20815 {source="Orphanet:261947"} xref: ICD10CM:Q93.5 {source="Orphanet:261947", source="Orphanet:261947/attributed", source="Orphanet:261947/ntbt"} xref: Orphanet:261947 {source="MONDO:equivalentTo"} is_a: MONDO:0016876 {source="Orphanet:261947"} ! partial deletion of chromosome 11 @@ -330821,11 +343588,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016894 name: partial deletion of the short arm of chromosome 16 subset: disease_grouping +subset: gard_rare {source="GARD:20816"} subset: ordo_group_of_disorders {source="Orphanet:261956"} synonym: "partial deletion of chromosome 16p" EXACT [Orphanet:261956] synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261956] synonym: "partial monosomy of chromosome 16p" EXACT [Orphanet:261956] synonym: "partial monosomy of the short arm of chromosome 16" EXACT [Orphanet:261956] +xref: GARD:20816 {source="Orphanet:261956"} xref: ICD10CM:Q93.5 {source="Orphanet:261956/attributed", source="Orphanet:261956/ntbt", source="Orphanet:261956"} xref: Orphanet:261956 {source="MONDO:equivalentTo"} is_a: MONDO:0016878 {source="Orphanet:261956"} ! partial deletion of chromosome 16 @@ -330853,11 +343622,13 @@ replaced_by: MONDO:0007800 id: MONDO:0016897 name: partial deletion of the short arm of chromosome 19 subset: disease_grouping +subset: gard_rare {source="GARD:20819"} subset: ordo_group_of_disorders {source="Orphanet:261983"} synonym: "partial deletion of chromosome 19p" EXACT [Orphanet:261983] synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261983] synonym: "partial monosomy of chromosome 19p" EXACT [Orphanet:261983] synonym: "partial monosomy of the short arm of chromosome 19" EXACT [Orphanet:261983] +xref: GARD:20819 {source="Orphanet:261983"} xref: ICD10CM:Q93.5 {source="Orphanet:261983", source="Orphanet:261983/attributed", source="Orphanet:261983/ntbt"} xref: Orphanet:261983 {source="MONDO:equivalentTo"} is_a: MONDO:0016881 {source="Orphanet:261983"} ! partial deletion of chromosome 19 @@ -330869,7 +343640,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016898 name: partial monosomy of the short arm of chromosome 20 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20820"} subset: ordo_group_of_disorders {source="Orphanet:261992"} synonym: "20p deletion" RELATED [GARD:0003739] synonym: "20p monosomy" RELATED [GARD:0003739] @@ -330882,6 +343653,7 @@ synonym: "partial monosomy 20p" RELATED [GARD:0003739] synonym: "partial monosomy of chromosome 20p" EXACT [Orphanet:261992] synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261992] synonym: "Pure partial 20p deletion" EXACT [Orphanet:261992] +xref: GARD:20820 {source="Orphanet:261992"} xref: ICD10CM:Q93.5 {source="Orphanet:261992", source="Orphanet:261992/attributed", source="Orphanet:261992/ntbt"} xref: MESH:C535370 {source="MONDO:equivalentTo"} xref: Orphanet:1611 {source="GARD:0003739"} @@ -330897,7 +343669,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016899 name: obsolete Duchenne and Becker muscular dystrophy def: "OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:262] +subset: gard_rare {source="GARD:18686"} synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262] +xref: GARD:18686 {source="MONDO:obsoleteEquivalent", source="Orphanet:262"} xref: ICD10CM:G71.0 {source="Orphanet:262/inclusion", source="Orphanet:262/ntbt", source="Orphanet:262"} xref: Orphanet:262 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0917713 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262"} @@ -330924,7 +343698,7 @@ id: MONDO:0016901 name: partial deletion of the long arm of chromosome 2 def: "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003744] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20822"} subset: ordo_group_of_disorders {source="Orphanet:262010"} synonym: "2q deletion" RELATED [GARD:0003744] synonym: "2q monosomy" RELATED [GARD:0003744] @@ -330936,6 +343710,7 @@ synonym: "partial deletion of the long arm of chromosome type 2" EXACT [MONDORUL synonym: "partial monosomy 2q" RELATED [GARD:0003744] synonym: "partial monosomy of chromosome 2q" EXACT [Orphanet:262010] synonym: "partial monosomy of the long arm of chromosome 2" EXACT [Orphanet:262010] +xref: GARD:20822 {source="Orphanet:262010"} xref: ICD10CM:Q93.5 {source="Orphanet:262010", source="Orphanet:262010/attributed", source="Orphanet:262010/ntbt"} xref: MESH:C538315 {source="MONDO:equivalentTo"} xref: Orphanet:262010 {source="MONDO:equivalentTo"} @@ -330949,11 +343724,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016902 name: partial deletion of the long arm of chromosome 3 subset: disease_grouping +subset: gard_rare {source="GARD:20823"} subset: ordo_group_of_disorders {source="Orphanet:262019"} synonym: "partial deletion of chromosome 3q" EXACT [Orphanet:262019] synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262019] synonym: "partial monosomy of chromosome 3q" EXACT [Orphanet:262019] synonym: "partial monosomy of the long arm of chromosome 3" EXACT [Orphanet:262019] +xref: GARD:20823 {source="Orphanet:262019"} xref: ICD10CM:Q93.5 {source="Orphanet:262019/attributed", source="Orphanet:262019/ntbt", source="Orphanet:262019"} xref: Orphanet:262019 {source="MONDO:equivalentTo"} is_a: MONDO:0016868 {source="Orphanet:262019"} ! partial deletion of chromosome 3 @@ -330966,7 +343743,7 @@ id: MONDO:0016903 name: partial deletion of the long arm of chromosome 4 def: "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001340] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20824"} subset: ordo_group_of_disorders {source="Orphanet:262029"} synonym: "4q deletion" RELATED [GARD:0001340] synonym: "4q monosomy" RELATED [GARD:0001340] @@ -330978,6 +343755,7 @@ synonym: "partial deletion of the long arm of chromosome type 4" EXACT [MONDORUL synonym: "partial monosomy 4q" RELATED [GARD:0001340] synonym: "partial monosomy of chromosome 4q" EXACT [Orphanet:262029] synonym: "partial monosomy of the long arm of chromosome 4" EXACT [Orphanet:262029] +xref: GARD:20824 {source="Orphanet:262029"} xref: ICD10CM:Q93.5 {source="Orphanet:262029", source="Orphanet:262029/attributed", source="Orphanet:262029/ntbt"} xref: MESH:C537639 {source="MONDO:equivalentTo"} xref: Orphanet:262029 {source="MONDO:equivalentTo"} @@ -330991,11 +343769,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016904 name: partial deletion of the long arm of chromosome 5 subset: disease_grouping +subset: gard_rare {source="GARD:20825"} subset: ordo_group_of_disorders {source="Orphanet:262038"} synonym: "partial deletion of chromosome 5q" EXACT [Orphanet:262038] synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262038] synonym: "partial monosomy of chromosome 5q" EXACT [Orphanet:262038] synonym: "partial monosomy of the long arm of chromosome 5" EXACT [Orphanet:262038] +xref: GARD:20825 {source="Orphanet:262038"} xref: ICD10CM:Q93.5 {source="Orphanet:262038", source="Orphanet:262038/attributed", source="Orphanet:262038/ntbt"} xref: Orphanet:262038 {source="MONDO:equivalentTo"} xref: UMLS:C0740302 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262038"} @@ -331009,7 +343789,7 @@ id: MONDO:0016905 name: partial deletion of the long arm of chromosome 6 def: "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003760] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20826"} subset: ordo_group_of_disorders {source="Orphanet:262047"} synonym: "6q deletion" RELATED [GARD:0003760] synonym: "6q monosomy" RELATED [GARD:0003760] @@ -331021,6 +343801,7 @@ synonym: "partial deletion of the long arm of chromosome type 6" EXACT [MONDORUL synonym: "partial monosomy 6q" RELATED [GARD:0003760] synonym: "partial monosomy of chromosome 6q" EXACT [Orphanet:262047] synonym: "partial monosomy of the long arm of chromosome 6" EXACT [Orphanet:262047] +xref: GARD:20826 {source="Orphanet:262047"} xref: ICD10CM:Q93.5 {source="Orphanet:262047", source="Orphanet:262047/attributed", source="Orphanet:262047/ntbt"} xref: MESH:C537807 {source="MONDO:equivalentTo"} xref: Orphanet:262047 {source="MONDO:equivalentTo"} @@ -331035,7 +343816,7 @@ id: MONDO:0016906 name: partial deletion of the long arm of chromosome 7 def: "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003765] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20827"} subset: ordo_group_of_disorders {source="Orphanet:262056"} synonym: "7q deletion" RELATED [GARD:0003765] synonym: "7q monosomy" RELATED [GARD:0003765] @@ -331048,6 +343829,7 @@ synonym: "partial deletion of the long arm of chromosome type 7" EXACT [MONDORUL synonym: "partial monosomy 7q" RELATED [GARD:0003765] synonym: "partial monosomy of chromosome 7q" EXACT [Orphanet:262056] synonym: "partial monosomy of the long arm of chromosome 7" EXACT [Orphanet:262056] +xref: GARD:20827 {source="Orphanet:262056"} xref: ICD10CM:Q93.5 {source="Orphanet:262056/attributed", source="Orphanet:262056/ntbt", source="Orphanet:262056"} xref: NCIT:C36408 {source="MONDO:relatedTo"} xref: Orphanet:262056 {source="MONDO:equivalentTo"} @@ -331062,7 +343844,7 @@ id: MONDO:0016907 name: partial deletion of the long arm of chromosome 8 def: "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003770] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20828"} subset: ordo_group_of_disorders {source="Orphanet:262065"} synonym: "8q deletion" RELATED [GARD:0003770] synonym: "8q monosomy" RELATED [GARD:0003770] @@ -331074,6 +343856,7 @@ synonym: "partial deletion of the long arm of chromosome type 8" EXACT [MONDORUL synonym: "partial monosomy 8q" RELATED [GARD:0003770] synonym: "partial monosomy of chromosome 8q" EXACT [Orphanet:262065] synonym: "partial monosomy of the long arm of chromosome 8" EXACT [Orphanet:262065] +xref: GARD:20828 {source="Orphanet:262065"} xref: ICD10CM:Q93.5 {source="Orphanet:262065", source="Orphanet:262065/attributed", source="Orphanet:262065/ntbt"} xref: MESH:C537828 {source="MONDO:equivalentTo"} xref: Orphanet:262065 {source="MONDO:equivalentTo"} @@ -331087,11 +343870,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016908 name: partial monosomy of the long arm of chromosome 9 subset: disease_grouping +subset: gard_rare {source="GARD:20829"} subset: ordo_group_of_disorders {source="Orphanet:262074"} synonym: "partial deletion of chromosome 9q" EXACT [Orphanet:262074] synonym: "partial deletion of the long arm of chromosome 9" EXACT [Orphanet:262074] synonym: "partial monosomy of chromosome 9q" EXACT [Orphanet:262074] synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262074] +xref: GARD:20829 {source="Orphanet:262074"} xref: ICD10CM:Q93.5 {source="Orphanet:262074", source="Orphanet:262074/attributed", source="Orphanet:262074/ntbt"} xref: Orphanet:262074 {source="MONDO:equivalentTo"} is_a: MONDO:0016874 {source="Orphanet:262074"} ! partial deletion of chromosome 9 @@ -331103,11 +343888,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016909 name: partial monosomy of the long arm of chromosome 10 subset: disease_grouping +subset: gard_rare {source="GARD:20830"} subset: ordo_group_of_disorders {source="Orphanet:262083"} synonym: "partial deletion of chromosome 10q" EXACT [Orphanet:262083] synonym: "partial deletion of the long arm of chromosome 10" EXACT [Orphanet:262083] synonym: "partial monosomy of chromosome 10q" EXACT [Orphanet:262083] synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:262083] +xref: GARD:20830 {source="Orphanet:262083"} xref: ICD10CM:Q93.5 {source="Orphanet:262083/attributed", source="Orphanet:262083/ntbt", source="Orphanet:262083"} xref: Orphanet:262083 {source="MONDO:equivalentTo"} xref: UMLS:C0795839 {source="MONDO:equivalentTo", source="Orphanet:262083"} @@ -331121,7 +343908,7 @@ id: MONDO:0016910 name: partial deletion of the long arm of chromosome 11 def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." [NCIT:C37312] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20831"} subset: ordo_group_of_disorders {source="Orphanet:262092"} synonym: "11q deletion" RELATED [GARD:0001735] synonym: "11q monosomy" RELATED [GARD:0001735] @@ -331138,6 +343925,7 @@ synonym: "partial deletion of the long arm of chromosome type 11" EXACT [MONDORU synonym: "partial monosomy 11q" RELATED [GARD:0001735] synonym: "partial monosomy of chromosome 11q" EXACT [Orphanet:262092] synonym: "partial monosomy of the long arm of chromosome 11" EXACT [Orphanet:262092] +xref: GARD:20831 {source="Orphanet:262092"} xref: GTR:AN0100478 xref: GTR:AN0100479 xref: GTR:AN0100480 @@ -331157,7 +343945,7 @@ id: MONDO:0016911 name: partial deletion of the long arm of chromosome 13 def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." [NCIT:C36497] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20832"} subset: ordo_group_of_disorders {source="Orphanet:262101"} synonym: "13q deletion" RELATED [GARD:0001738] synonym: "13q monosomy" RELATED [GARD:0001738] @@ -331170,6 +343958,7 @@ synonym: "partial deletion of chromosome 13q" EXACT [Orphanet:262101] synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262101] synonym: "partial monosomy of chromosome 13q" EXACT [Orphanet:262101] synonym: "partial monosomy of the long arm of chromosome 13" EXACT [Orphanet:262101] +xref: GARD:20832 {source="Orphanet:262101"} xref: ICD10CM:Q93.5 {source="Orphanet:262101", source="Orphanet:262101/attributed", source="Orphanet:262101/ntbt"} xref: MESH:C535449 {source="MONDO:equivalentTo"} xref: NCIT:C36497 {source="MONDO:relatedTo"} @@ -331184,7 +343973,7 @@ id: MONDO:0016912 name: partial deletion of the long arm of chromosome 14 def: "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." [GARD:0003722] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20833"} subset: ordo_group_of_disorders {source="Orphanet:262110"} synonym: "14q deletion" RELATED [GARD:0003722] synonym: "14q monosomy" RELATED [GARD:0003722] @@ -331196,6 +343985,7 @@ synonym: "partial deletion of the long arm of chromosome type 14" EXACT [MONDORU synonym: "partial monosomy 14q" RELATED [GARD:0003722] synonym: "partial monosomy of chromosome 14q" EXACT [Orphanet:262110] synonym: "partial monosomy of the long arm of chromosome 14" EXACT [Orphanet:262110] +xref: GARD:20833 {source="Orphanet:262110"} xref: ICD10CM:Q93.5 {source="Orphanet:262110/attributed", source="Orphanet:262110/ntbt", source="Orphanet:262110"} xref: Orphanet:262110 {source="MONDO:equivalentTo"} xref: UMLS:C2931701 {source="GARD:0003722", source="MONDO:notFoundInDiseaseSubset"} @@ -331207,6 +343997,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016913 name: partial deletion of the long arm of chromosome 15 subset: disease_grouping +subset: gard_rare {source="GARD:20834"} subset: ordo_group_of_disorders {source="Orphanet:262119"} synonym: "15q deletion" RELATED [GARD:0001746] synonym: "15q monosomy" RELATED [GARD:0001746] @@ -331218,6 +344009,7 @@ synonym: "partial deletion of the long arm of chromosome type 15" EXACT [MONDORU synonym: "partial monosomy 15q" RELATED [GARD:0001746] synonym: "partial monosomy of chromosome 15q" EXACT [Orphanet:262119] synonym: "partial monosomy of the long arm of chromosome 15" EXACT [Orphanet:262119] +xref: GARD:20834 {source="Orphanet:262119"} xref: ICD10CM:Q93.5 {source="Orphanet:262119/attributed", source="Orphanet:262119/ntbt", source="Orphanet:262119"} xref: MESH:C538038 {source="MONDO:equivalentTo"} xref: Orphanet:262119 {source="MONDO:equivalentTo"} @@ -331230,11 +344022,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016914 name: partial deletion of the long arm of chromosome 16 subset: disease_grouping +subset: gard_rare {source="GARD:20835"} subset: ordo_group_of_disorders {source="Orphanet:262128"} synonym: "partial deletion of chromosome 16q" EXACT [Orphanet:262128] synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262128] synonym: "partial monosomy of chromosome 16q" EXACT [Orphanet:262128] synonym: "partial monosomy of the long arm of chromosome 16" EXACT [Orphanet:262128] +xref: GARD:20835 {source="Orphanet:262128"} xref: ICD10CM:Q93.5 {source="Orphanet:262128", source="Orphanet:262128/attributed", source="Orphanet:262128/ntbt"} xref: Orphanet:262128 {source="MONDO:equivalentTo"} is_a: MONDO:0016878 {source="Orphanet:262128"} ! partial deletion of chromosome 16 @@ -331246,11 +344040,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016915 name: partial deletion of the long arm of chromosome 17 subset: disease_grouping +subset: gard_rare {source="GARD:20836"} subset: ordo_group_of_disorders {source="Orphanet:262137"} synonym: "partial deletion of chromosome 17q" EXACT [Orphanet:262137] synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262137] synonym: "partial monosomy of chromosome 17q" EXACT [Orphanet:262137] synonym: "partial monosomy of the long arm of chromosome 17" EXACT [Orphanet:262137] +xref: GARD:20836 {source="Orphanet:262137"} xref: ICD10CM:Q93.5 {source="Orphanet:262137", source="Orphanet:262137/attributed", source="Orphanet:262137/ntbt"} xref: Orphanet:262137 {source="MONDO:equivalentTo"} is_a: MONDO:0016879 {source="Orphanet:262137"} ! partial deletion of chromosome 17 @@ -331270,11 +344066,13 @@ replaced_by: MONDO:0011147 id: MONDO:0016917 name: partial deletion of the long arm of chromosome 19 subset: disease_grouping +subset: gard_rare {source="GARD:20838"} subset: ordo_group_of_disorders {source="Orphanet:262155"} synonym: "partial deletion of chromosome 19q" EXACT [Orphanet:262155] synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262155] synonym: "partial monosomy of chromosome 19q" EXACT [Orphanet:262155] synonym: "partial monosomy of the long arm of chromosome 19" EXACT [Orphanet:262155] +xref: GARD:20838 {source="Orphanet:262155"} xref: ICD10CM:Q93.5 {source="Orphanet:262155/attributed", source="Orphanet:262155/ntbt", source="Orphanet:262155"} xref: Orphanet:262155 {source="MONDO:equivalentTo"} is_a: MONDO:0016881 {source="Orphanet:262155"} ! partial deletion of chromosome 19 @@ -331286,11 +344084,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016918 name: partial deletion of the long arm of chromosome 20 subset: disease_grouping +subset: gard_rare {source="GARD:20839"} subset: ordo_group_of_disorders {source="Orphanet:262164"} synonym: "partial deletion of chromosome 20q" EXACT [Orphanet:262164] synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262164] synonym: "partial monosomy of chromosome 20q" EXACT [Orphanet:262164] synonym: "partial monosomy of the long arm of chromosome 20" EXACT [Orphanet:262164] +xref: GARD:20839 {source="Orphanet:262164"} xref: ICD10CM:Q93.5 {source="Orphanet:262164", source="Orphanet:262164/attributed", source="Orphanet:262164/ntbt"} xref: Orphanet:262164 {source="MONDO:equivalentTo"} is_a: MONDO:0016882 {source="Orphanet:262164"} ! partial deletion of chromosome 20 @@ -331302,11 +344102,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016919 name: partial deletion of the long arm of chromosome 21 subset: disease_grouping +subset: gard_rare {source="GARD:20840"} subset: ordo_group_of_disorders {source="Orphanet:262173"} synonym: "partial deletion of chromosome 21q" EXACT [Orphanet:262173] synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2, Orphanet:262173] synonym: "partial monosomy of chromosome 21q" EXACT [Orphanet:262173] synonym: "partial monosomy of the long arm of chromosome 21" EXACT [Orphanet:262173] +xref: GARD:20840 {source="Orphanet:262173"} xref: ICD10CM:Q93.5 {source="Orphanet:262173", source="Orphanet:262173/attributed", source="Orphanet:262173/ntbt"} xref: Orphanet:262173 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -331324,9 +344126,11 @@ replaced_by: MONDO:0022760 id: MONDO:0016921 name: partial duplication of chromosome 1 subset: disease_grouping +subset: gard_rare {source="GARD:20842"} subset: ordo_group_of_disorders {source="Orphanet:262191"} synonym: "partial duplication of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262191] synonym: "partial trisomy of chromosome 1" EXACT [Orphanet:262191] +xref: GARD:20842 {source="Orphanet:262191"} xref: Orphanet:262191 {source="MONDO:equivalentTo"} xref: SCTID:726338000 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331337,9 +344141,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016922 name: partial duplication of chromosome 2 subset: disease_grouping +subset: gard_rare {source="GARD:20843"} subset: ordo_group_of_disorders {source="Orphanet:262196"} synonym: "partial duplication of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262196] synonym: "partial trisomy of chromosome 2" EXACT [Orphanet:262196] +xref: GARD:20843 {source="Orphanet:262196"} xref: Orphanet:262196 {source="MONDO:equivalentTo"} xref: SCTID:726340005 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331350,9 +344156,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016923 name: partial duplication of chromosome 3 subset: disease_grouping +subset: gard_rare {source="GARD:20844"} subset: ordo_group_of_disorders {source="Orphanet:262201"} synonym: "partial duplication of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262201] synonym: "partial trisomy of chromosome 3" EXACT [Orphanet:262201] +xref: GARD:20844 {source="Orphanet:262201"} xref: Orphanet:262201 {source="MONDO:equivalentTo"} xref: SCTID:726341009 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331363,9 +344171,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016924 name: partial duplication of chromosome 4 subset: disease_grouping +subset: gard_rare {source="GARD:20845"} subset: ordo_group_of_disorders {source="Orphanet:262206"} synonym: "partial duplication of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262206] synonym: "partial trisomy of chromosome 4" EXACT [Orphanet:262206] +xref: GARD:20845 {source="Orphanet:262206"} xref: Orphanet:262206 {source="MONDO:equivalentTo"} xref: SCTID:726342002 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331376,9 +344186,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016925 name: partial trisomy/tetrasomy of chromosome 5 subset: disease_grouping +subset: gard_rare {source="GARD:20846"} subset: ordo_group_of_disorders {source="Orphanet:262211"} synonym: "partial duplication/triplication of chromosome 5" EXACT [Orphanet:262211] synonym: "partial trisomy/tetrasomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262211] +xref: GARD:20846 {source="Orphanet:262211"} xref: Orphanet:262211 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human) @@ -331393,9 +344205,11 @@ replaced_by: MONDO:0000127 id: MONDO:0016927 name: partial duplication of chromosome 6 subset: disease_grouping +subset: gard_rare {source="GARD:20847"} subset: ordo_group_of_disorders {source="Orphanet:262628"} synonym: "partial duplication of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262628] synonym: "partial trisomy of chromosome 6" EXACT [Orphanet:262628] +xref: GARD:20847 {source="Orphanet:262628"} xref: Orphanet:262628 {source="MONDO:equivalentTo"} xref: SCTID:726345000 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331406,9 +344220,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016928 name: partial duplication of chromosome 7 subset: disease_grouping +subset: gard_rare {source="GARD:20848"} subset: ordo_group_of_disorders {source="Orphanet:262633"} synonym: "partial duplication of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262633] synonym: "partial trisomy of chromosome 7" EXACT [Orphanet:262633] +xref: GARD:20848 {source="Orphanet:262633"} xref: Orphanet:262633 {source="MONDO:equivalentTo"} xref: SCTID:726346004 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331419,9 +344235,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016929 name: partial duplication of chromosome 8 subset: disease_grouping +subset: gard_rare {source="GARD:20849"} subset: ordo_group_of_disorders {source="Orphanet:262638"} synonym: "partial duplication of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262638] synonym: "partial trisomy of chromosome 8" EXACT [Orphanet:262638] +xref: GARD:20849 {source="Orphanet:262638"} xref: MESH:C537941 {source="MONDO:equivalentTo"} xref: Orphanet:262638 {source="MONDO:equivalentTo"} xref: SCTID:726347008 {source="MONDO:equivalentTo"} @@ -331433,9 +344251,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016930 name: partial trisomy/tetrasomy of chromosome 9 subset: disease_grouping +subset: gard_rare {source="GARD:20850"} subset: ordo_group_of_disorders {source="Orphanet:262643"} synonym: "partial duplication/triplication of chromosome 9" EXACT [Orphanet:262643] synonym: "partial trisomy/tetrasomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262643] +xref: GARD:20850 {source="Orphanet:262643"} xref: Orphanet:262643 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human) @@ -331444,8 +344264,10 @@ intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Hum id: MONDO:0016931 name: partial duplication of chromosome 10 subset: disease_grouping +subset: gard_rare {source="GARD:20851"} subset: ordo_group_of_disorders synonym: "partial trisomy of chromosome 10" EXACT [Orphanet:262648] +xref: GARD:20851 {source="Orphanet:262648"} xref: Orphanet:262648 {source="MONDO:equivalentTo"} xref: SCTID:726349006 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331456,9 +344278,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016932 name: partial duplication of chromosome 11 subset: disease_grouping +subset: gard_rare {source="GARD:20852"} subset: ordo_group_of_disorders {source="Orphanet:262653"} synonym: "partial duplication of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262653] synonym: "partial trisomy of chromosome 11" EXACT [Orphanet:262653] +xref: GARD:20852 {source="Orphanet:262653"} xref: Orphanet:262653 {source="MONDO:equivalentTo"} xref: SCTID:726350006 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331469,11 +344293,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016933 name: partial trisomy/tetrasomy of the short arm of chromosome 12 subset: disease_grouping +subset: gard_rare {source="GARD:20853"} subset: ordo_group_of_disorders {source="Orphanet:262658"} synonym: "partial duplication/triplication of chromosome 12p" EXACT [Orphanet:262658] synonym: "partial duplication/triplication of the short arm of chromosome 12" EXACT [Orphanet:262658] synonym: "partial trisomy/tetrasomy of chromosome 12p" EXACT [Orphanet:262658] synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:262658] +xref: GARD:20853 {source="Orphanet:262658"} xref: Orphanet:262658 {source="MONDO:equivalentTo"} is_a: MONDO:0042968 ! partial duplication of chromosome 12 @@ -331481,9 +344307,11 @@ is_a: MONDO:0042968 ! partial duplication of chromosome 12 id: MONDO:0016934 name: partial duplication of chromosome 16 subset: disease_grouping +subset: gard_rare {source="GARD:20854"} subset: ordo_group_of_disorders {source="Orphanet:262672"} synonym: "partial duplication of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262672] synonym: "partial trisomy of chromosome 16" EXACT [Orphanet:262672] +xref: GARD:20854 {source="Orphanet:262672"} xref: Orphanet:262672 {source="MONDO:equivalentTo"} xref: SCTID:726355001 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331494,9 +344322,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016935 name: partial duplication of chromosome 17 subset: disease_grouping +subset: gard_rare {source="GARD:20855"} subset: ordo_group_of_disorders {source="Orphanet:262677"} synonym: "partial duplication of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262677] synonym: "partial trisomy of chromosome 17" EXACT [Orphanet:262677] +xref: GARD:20855 {source="Orphanet:262677"} xref: Orphanet:262677 {source="MONDO:equivalentTo"} xref: SCTID:726356000 {source="MONDO:equivalentTo"} xref: UMLS:C4518505 {source="MONDO:equivalentTo"} @@ -331509,9 +344339,11 @@ id: MONDO:0016936 name: partial trisomy/tetrasomy of chromosome 18 def: "A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18." [https://orcid.org/0000-0002-4142-7153] subset: disease_grouping +subset: gard_rare {source="GARD:20856"} subset: ordo_group_of_disorders {source="Orphanet:262682"} synonym: "partial duplication/triplication of chromosome 18" EXACT [Orphanet:262682] synonym: "partial trisomy/tetrasomy of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262682] +xref: GARD:20856 {source="Orphanet:262682"} xref: Orphanet:262682 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human) @@ -331520,9 +344352,11 @@ intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (H id: MONDO:0016937 name: partial duplication of chromosome 19 subset: disease_grouping +subset: gard_rare {source="GARD:20857"} subset: ordo_group_of_disorders {source="Orphanet:262687"} synonym: "partial duplication of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262687] synonym: "partial trisomy of chromosome 19" EXACT [Orphanet:262687] +xref: GARD:20857 {source="Orphanet:262687"} xref: Orphanet:262687 {source="MONDO:equivalentTo"} xref: SCTID:726358004 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331533,9 +344367,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016938 name: partial trisomy of chromosome 20 subset: disease_grouping +subset: gard_rare {source="GARD:20858"} subset: ordo_group_of_disorders {source="Orphanet:262692"} synonym: "partial duplication of chromosome 20" EXACT [Orphanet:262692] synonym: "partial trisomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262692] +xref: GARD:20858 {source="Orphanet:262692"} xref: Orphanet:262692 {source="MONDO:equivalentTo"} xref: SCTID:726360002 {source="MONDO:equivalentTo"} xref: UMLS:C4518509 {source="MONDO:equivalentTo"} @@ -331548,7 +344384,7 @@ id: MONDO:0016939 name: partial duplication of the short arm of chromosome 2 def: "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005337] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20859"} subset: ordo_group_of_disorders {source="Orphanet:262698"} synonym: "2p duplication" RELATED [GARD:0005337] synonym: "2p trisomy" RELATED [GARD:0005337] @@ -331559,6 +344395,7 @@ synonym: "partial duplication of the short arm of chromosome type 2" EXACT [MOND synonym: "partial trisomy 2p" RELATED [GARD:0005337] synonym: "partial trisomy of chromosome 2p" EXACT [Orphanet:262698] synonym: "trisomy 2p" RELATED [GARD:0005337] +xref: GARD:20859 {source="Orphanet:262698"} xref: MESH:C538318 {source="MONDO:equivalentTo"} xref: Orphanet:262698 {source="MONDO:equivalentTo"} xref: UMLS:C0795803 {source="GARD:0005337", source="MONDO:equivalentTo"} @@ -331572,7 +344409,7 @@ id: MONDO:0016940 name: partial duplication of the short arm of chromosome 3 def: "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005343] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20860"} subset: ordo_group_of_disorders {source="Orphanet:262707"} synonym: "3p duplication" RELATED [GARD:0005343] synonym: "3p trisomy" RELATED [GARD:0005343] @@ -331584,6 +344421,7 @@ synonym: "partial trisomy 3p" RELATED [GARD:0005343] synonym: "partial trisomy of chromosome 3p" EXACT [Orphanet:262707] synonym: "partial trisomy of the short arm of chromosome 3" EXACT [Orphanet:262707] synonym: "trisomy 3p" RELATED [GARD:0005343] +xref: GARD:20860 {source="Orphanet:262707"} xref: MESH:C536811 {source="MONDO:equivalentTo"} xref: Orphanet:262707 {source="MONDO:equivalentTo"} xref: UMLS:C0795807 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005343"} @@ -331596,11 +344434,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016941 name: partial duplication of the short arm of chromosome 4 subset: disease_grouping +subset: gard_rare {source="GARD:20861"} subset: ordo_group_of_disorders {source="Orphanet:262716"} synonym: "partial duplication of chromosome 4p" EXACT [Orphanet:262716] synonym: "partial duplication of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262716] synonym: "partial trisomy of chromosome 4p" EXACT [Orphanet:262716] synonym: "partial trisomy of the short arm of chromosome 4" EXACT [Orphanet:262716] +xref: GARD:20861 {source="Orphanet:262716"} xref: Orphanet:262716 {source="MONDO:equivalentTo"} is_a: MONDO:0016924 {source="Orphanet:262716"} ! partial duplication of chromosome 4 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331611,11 +344451,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016942 name: partial trisomy/tetrasomy of the short arm of chromosome 5 subset: disease_grouping +subset: gard_rare {source="GARD:20862"} subset: ordo_group_of_disorders {source="Orphanet:262725"} synonym: "partial duplication/triplication of chromosome 5p" EXACT [Orphanet:262725] synonym: "partial duplication/triplication of the short arm of chromosome 5" EXACT [Orphanet:262725] synonym: "partial trisomy/tetrasomy of chromosome 5p" EXACT [Orphanet:262725] synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262725] +xref: GARD:20862 {source="Orphanet:262725"} xref: Orphanet:262725 {source="MONDO:equivalentTo"} is_a: MONDO:0016925 {source="Orphanet:262725"} ! partial trisomy/tetrasomy of chromosome 5 relationship: disease_arises_from_structure CHR:9606-chr5p {source="https://orcid.org/0000-0002-4142-7153"} ! 5p (Human) @@ -331625,7 +344467,7 @@ id: MONDO:0016943 name: partial duplication of the short arm of chromosome 6 def: "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005352] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20863"} subset: ordo_group_of_disorders {source="Orphanet:262740"} synonym: "6p duplication" RELATED [GARD:0005352] synonym: "6p trisomy" RELATED [GARD:0005352] @@ -331637,6 +344479,7 @@ synonym: "partial trisomy 6p" RELATED [GARD:0005352] synonym: "partial trisomy of chromosome 6p" EXACT [Orphanet:262740] synonym: "partial trisomy of the short arm of chromosome 6" EXACT [Orphanet:262740] synonym: "trisomy 6p" RELATED [GARD:0005352] +xref: GARD:20863 {source="Orphanet:262740"} xref: MESH:C537811 {source="MONDO:equivalentTo"} xref: Orphanet:262740 {source="MONDO:equivalentTo"} xref: UMLS:C2931621 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005352"} @@ -331651,7 +344494,7 @@ id: MONDO:0016944 name: partial duplication of the short arm of chromosome 7 def: "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005355] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20864"} subset: ordo_group_of_disorders {source="Orphanet:262749"} synonym: "7p duplication" RELATED [GARD:0005355] synonym: "7p trisomy" RELATED [GARD:0005355] @@ -331663,6 +344506,7 @@ synonym: "partial trisomy 7p" RELATED [GARD:0005355] synonym: "partial trisomy of chromosome 7p" EXACT [Orphanet:262749] synonym: "partial trisomy of the short arm of chromosome 7" EXACT [Orphanet:262749] synonym: "trisomy 7p" RELATED [GARD:0005355] +xref: GARD:20864 {source="Orphanet:262749"} xref: MESH:C537819 {source="MONDO:equivalentTo"} xref: Orphanet:262749 {source="MONDO:equivalentTo"} xref: UMLS:C0795820 {source="MONDO:equivalentTo", source="GARD:0005355"} @@ -331676,7 +344520,7 @@ id: MONDO:0016945 name: partial duplication of the short arm of chromosome 8 def: "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005361] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20865"} subset: ordo_group_of_disorders {source="Orphanet:262758"} synonym: "8p duplication" RELATED [GARD:0005361] synonym: "8p trisomy" RELATED [GARD:0005361] @@ -331688,6 +344532,7 @@ synonym: "partial trisomy 8p" RELATED [GARD:0005361] synonym: "partial trisomy of chromosome 8p" EXACT [Orphanet:262758] synonym: "partial trisomy of the short arm of chromosome 8" EXACT [Orphanet:262758] synonym: "trisomy 8p" RELATED [GARD:0005361] +xref: GARD:20865 {source="Orphanet:262758"} xref: Orphanet:262758 {source="MONDO:equivalentTo"} xref: UMLS:C0795825 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005361"} is_a: MONDO:0016929 {source="Orphanet:262758"} ! partial duplication of chromosome 8 @@ -331707,10 +344552,12 @@ replaced_by: MONDO:0016526 id: MONDO:0016947 name: partial duplication of the short arm of chromosome 10 subset: disease_grouping +subset: gard_rare {source="GARD:20867"} subset: ordo_group_of_disorders synonym: "partial duplication of chromosome 10p" EXACT [Orphanet:262776] synonym: "partial trisomy of chromosome 10p" EXACT [Orphanet:262776] synonym: "partial trisomy of the short arm of chromosome 10" EXACT [Orphanet:262776] +xref: GARD:20867 {source="Orphanet:262776"} xref: Orphanet:262776 {source="MONDO:equivalentTo"} is_a: MONDO:0016931 {source="Orphanet:262776"} ! partial duplication of chromosome 10 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331721,11 +344568,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016948 name: partial duplication of the short arm of chromosome 11 subset: disease_grouping +subset: gard_rare {source="GARD:20868"} subset: ordo_group_of_disorders {source="Orphanet:262785"} synonym: "partial duplication of chromosome 11p" EXACT [Orphanet:262785] synonym: "partial duplication of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262785] synonym: "partial trisomy of chromosome 11p" EXACT [Orphanet:262785] synonym: "partial trisomy of the short arm of chromosome 11" EXACT [Orphanet:262785] +xref: GARD:20868 {source="Orphanet:262785"} xref: Orphanet:262785 {source="MONDO:equivalentTo"} is_a: MONDO:0016932 {source="Orphanet:262785"} ! partial duplication of chromosome 11 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331737,7 +344586,7 @@ id: MONDO:0016949 name: partial duplication of the short arm of chromosome 16 def: "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005315] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20869"} subset: ordo_group_of_disorders {source="Orphanet:262794"} synonym: "16p duplication" RELATED [GARD:0005315] synonym: "16p trisomy" RELATED [GARD:0005315] @@ -331749,6 +344598,7 @@ synonym: "partial trisomy 16p" RELATED [GARD:0005315] synonym: "partial trisomy of chromosome 16p" EXACT [Orphanet:262794] synonym: "partial trisomy of the short arm of chromosome 16" EXACT [Orphanet:262794] synonym: "trisomy 16p" RELATED [GARD:0005315] +xref: GARD:20869 {source="Orphanet:262794"} xref: Orphanet:262794 {source="MONDO:equivalentTo"} xref: UMLS:C0795861 {source="GARD:0005315", source="MONDO:equivalentTo"} is_a: MONDO:0016934 {source="Orphanet:262794"} ! partial duplication of chromosome 16 @@ -331760,11 +344610,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016950 name: partial duplication of the short arm of chromosome 17 subset: disease_grouping +subset: gard_rare {source="GARD:20870"} subset: ordo_group_of_disorders {source="Orphanet:262803"} synonym: "partial duplication of chromosome 17p" EXACT [Orphanet:262803] synonym: "partial duplication of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262803] synonym: "partial trisomy of chromosome 17p" EXACT [Orphanet:262803] synonym: "partial trisomy of the short arm of chromosome 17" EXACT [Orphanet:262803] +xref: GARD:20870 {source="Orphanet:262803"} xref: Orphanet:262803 {source="MONDO:equivalentTo"} is_a: MONDO:0016935 {source="Orphanet:262803"} ! partial duplication of chromosome 17 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331775,11 +344627,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016951 name: partial trisomy/tetrasomy of the short arm of chromosome 18 subset: disease_grouping +subset: gard_rare {source="GARD:20871"} subset: ordo_group_of_disorders {source="Orphanet:262812"} synonym: "partial duplication/triplication of chromosome 18p" EXACT [Orphanet:262812] synonym: "partial duplication/triplication of the short arm of chromosome 18" EXACT [Orphanet:262812] synonym: "partial trisomy/tetrasomy of chromosome 18p" EXACT [Orphanet:262812] synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262812] +xref: GARD:20871 {source="Orphanet:262812"} xref: Orphanet:262812 {source="MONDO:equivalentTo"} is_a: MONDO:0016936 {source="Orphanet:262812"} ! partial trisomy/tetrasomy of chromosome 18 relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human) @@ -331788,6 +344642,7 @@ relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orc id: MONDO:0016952 name: partial duplication of the long arm of chromosome 1 subset: disease_grouping +subset: gard_rare {source="GARD:20872"} subset: ordo_group_of_disorders {source="Orphanet:262833"} synonym: "1q duplications" RELATED [GARD:0010831] synonym: "partial duplication of chromosome 1q" EXACT [Orphanet:262833] @@ -331795,6 +344650,7 @@ synonym: "partial duplication of the long arm of chromosome type 1" EXACT [MONDO synonym: "partial trisomy 1q" RELATED [GARD:0010831] synonym: "partial trisomy of chromosome 1q" EXACT [Orphanet:262833] synonym: "partial trisomy of the long arm of chromosome 1" EXACT [Orphanet:262833] +xref: GARD:20872 {source="Orphanet:262833"} xref: NCIT:C36521 {source="MONDO:relatedTo"} xref: Orphanet:262833 {source="MONDO:equivalentTo"} xref: UMLS:C0795800 {source="MONDO:equivalentTo"} @@ -331808,7 +344664,7 @@ id: MONDO:0016953 name: partial duplication of the long arm of chromosome 2 def: "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005340] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20873"} subset: ordo_group_of_disorders {source="Orphanet:262842"} synonym: "2q duplication" RELATED [GARD:0005340] synonym: "2q trisomy" RELATED [GARD:0005340] @@ -331820,6 +344676,7 @@ synonym: "partial trisomy 2q" RELATED [GARD:0005340] synonym: "partial trisomy of chromosome 2q" EXACT [Orphanet:262842] synonym: "partial trisomy of the long arm of chromosome 2" EXACT [Orphanet:262842] synonym: "trisomy 2q" RELATED [GARD:0005340] +xref: GARD:20873 {source="Orphanet:262842"} xref: MESH:C535367 {source="MONDO:equivalentTo"} xref: Orphanet:262842 {source="MONDO:equivalentTo"} xref: UMLS:C0795805 {source="MONDO:equivalentTo", source="GARD:0005340"} @@ -331833,7 +344690,7 @@ id: MONDO:0016954 name: partial duplication of the long arm of chromosome 3 def: "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005345] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20874"} subset: ordo_group_of_disorders {source="Orphanet:262851"} synonym: "chromosome 3, trisomy 3q" RELATED [GARD:0005345] synonym: "chromosome 3q duplication" RELATED [GARD:0005345] @@ -331842,6 +344699,7 @@ synonym: "partial duplication of chromosome 3q" EXACT [Orphanet:262851] synonym: "partial duplication of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262851] synonym: "partial trisomy of chromosome 3q" EXACT [Orphanet:262851] synonym: "trisomy 3q" RELATED [GARD:0005345] +xref: GARD:20874 {source="Orphanet:262851"} xref: MESH:C536813 {source="MONDO:equivalentTo"} xref: Orphanet:262851 {source="MONDO:equivalentTo"} xref: UMLS:C0795809 {source="GARD:0005345", source="MONDO:equivalentTo"} @@ -331855,7 +344713,7 @@ id: MONDO:0016955 name: partial duplication of the long arm of chromosome 4 def: "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." [GARD:0005347] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20875"} subset: ordo_group_of_disorders {source="Orphanet:262860"} synonym: "4q duplication" RELATED [GARD:0005347] synonym: "4q trisomy" RELATED [GARD:0005347] @@ -331874,6 +344732,7 @@ synonym: "partial trisomy of chromosome 4q" EXACT [Orphanet:262860] synonym: "partial trisomy of the long arm of chromosome 4" EXACT [Orphanet:262860] synonym: "trisomy 4q" RELATED [GARD:0005347] xref: DOID:0111159 {source="MONDO:equivalentTo"} +xref: GARD:20875 {source="Orphanet:262860"} xref: MESH:C537644 {source="MONDO:equivalentTo"} xref: Orphanet:1739 {source="GARD:0005347"} xref: Orphanet:262860 {source="MONDO:equivalentTo"} @@ -331889,7 +344748,7 @@ id: MONDO:0016956 name: partial trisomy of the long arm of chromosome 5 def: "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005351] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20876"} subset: ordo_group_of_disorders {source="Orphanet:262869"} synonym: "5q duplication" RELATED [GARD:0005351] synonym: "5q trisomy" RELATED [GARD:0005351] @@ -331901,6 +344760,7 @@ synonym: "partial trisomy 5q" RELATED [GARD:0005351] synonym: "partial trisomy of chromosome 5q" EXACT [Orphanet:262869] synonym: "partial trisomy of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262869] synonym: "trisomy 5q" RELATED [GARD:0005351] +xref: GARD:20876 {source="Orphanet:262869"} xref: MESH:C537650 {source="MONDO:equivalentTo"} xref: Orphanet:262869 {source="MONDO:equivalentTo"} xref: UMLS:C1802398 {source="MONDO:equivalentTo", source="GARD:0005351"} @@ -331914,7 +344774,7 @@ id: MONDO:0016957 name: partial duplication of the long arm of chromosome 6 def: "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." [GARD:0005353] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20877"} subset: ordo_group_of_disorders {source="Orphanet:262878"} synonym: "6q duplication" RELATED [GARD:0005353] synonym: "6q trisomy" RELATED [GARD:0005353] @@ -331926,6 +344786,7 @@ synonym: "partial trisomy 6q" RELATED [GARD:0005353] synonym: "partial trisomy of chromosome 6q" EXACT [Orphanet:262878] synonym: "partial trisomy of the long arm of chromosome 6" EXACT [Orphanet:262878] synonym: "trisomy 6q" RELATED [GARD:0005353] +xref: GARD:20877 {source="Orphanet:262878"} xref: MESH:C537812 {source="MONDO:equivalentTo"} xref: Orphanet:262878 {source="MONDO:equivalentTo"} is_a: MONDO:0016927 {source="Orphanet:262878"} ! partial duplication of chromosome 6 @@ -331938,7 +344799,7 @@ id: MONDO:0016958 name: partial duplication of the long arm of chromosome 7 def: "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005357] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20878"} subset: ordo_group_of_disorders {source="Orphanet:262887"} synonym: "7q duplication" RELATED [GARD:0005357] synonym: "7q trisomy" RELATED [GARD:0005357] @@ -331950,6 +344811,7 @@ synonym: "partial trisomy 7q" RELATED [GARD:0005357] synonym: "partial trisomy of chromosome 7q" EXACT [Orphanet:262887] synonym: "partial trisomy of the long arm of chromosome 7" EXACT [Orphanet:262887] synonym: "trisomy 7q" RELATED [GARD:0005357] +xref: GARD:20878 {source="Orphanet:262887"} xref: MESH:C537821 {source="MONDO:equivalentTo"} xref: Orphanet:262887 {source="MONDO:equivalentTo"} xref: UMLS:C0795821 {source="GARD:0005357", source="MONDO:equivalentTo"} @@ -331962,11 +344824,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016959 name: partial duplication of the long arm of chromosome 8 subset: disease_grouping +subset: gard_rare {source="GARD:20879"} subset: ordo_group_of_disorders {source="Orphanet:262896"} synonym: "partial duplication of chromosome 8q" EXACT [Orphanet:262896] synonym: "partial duplication of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262896] synonym: "partial trisomy of chromosome 8q" EXACT [Orphanet:262896] synonym: "partial trisomy of the long arm of chromosome 8" EXACT [Orphanet:262896] +xref: GARD:20879 {source="Orphanet:262896"} xref: Orphanet:262896 {source="MONDO:equivalentTo"} is_a: MONDO:0016929 {source="Orphanet:262896"} ! partial duplication of chromosome 8 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331977,11 +344841,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016960 name: partial trisomy of the long arm of chromosome 9 subset: disease_grouping +subset: gard_rare {source="GARD:20880"} subset: ordo_group_of_disorders {source="Orphanet:262905"} synonym: "partial duplication of chromosome 9q" EXACT [Orphanet:262905] synonym: "partial duplication of the long arm of chromosome 9" EXACT [Orphanet:262905] synonym: "partial trisomy of chromosome 9q" EXACT [Orphanet:262905] synonym: "partial trisomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262905] +xref: GARD:20880 {source="Orphanet:262905"} xref: Orphanet:262905 {source="MONDO:equivalentTo"} is_a: MONDO:0016930 {source="Orphanet:262905"} ! partial trisomy/tetrasomy of chromosome 9 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -331993,10 +344859,12 @@ id: MONDO:0016961 name: partial duplication of the long arm of chromosome 10 alt_id: MONDO:0042978 subset: disease_grouping +subset: gard_rare {source="GARD:20881"} subset: ordo_group_of_disorders synonym: "partial duplication of chromosome 10q" EXACT [Orphanet:262914] synonym: "partial trisomy of chromosome 10q" EXACT [Orphanet:262914] synonym: "partial trisomy of the long arm of chromosome 10" EXACT [Orphanet:262914] +xref: GARD:20881 {source="Orphanet:262914"} xref: Orphanet:262914 {source="MONDO:equivalentTo"} is_a: MONDO:0016931 {source="Orphanet:262914"} ! partial duplication of chromosome 10 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332023,7 +344891,7 @@ replaced_by: MONDO:0022177 id: MONDO:0016964 name: partial duplication of the long arm of chromosome 14 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20884"} subset: ordo_group_of_disorders {source="Orphanet:262941"} synonym: "14q duplication" RELATED [GARD:0005311] synonym: "14q trisomy" RELATED [GARD:0005311] @@ -332035,6 +344903,7 @@ synonym: "partial trisomy 14q" RELATED [GARD:0005311] synonym: "partial trisomy of chromosome 14q" EXACT [Orphanet:262941] synonym: "partial trisomy of the long arm of chromosome 14" EXACT [Orphanet:262941] synonym: "trisomy 14q" RELATED [GARD:0005311] +xref: GARD:20884 {source="Orphanet:262941"} xref: Orphanet:262941 {source="MONDO:equivalentTo"} xref: UMLS:C2931700 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005311"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332046,7 +344915,7 @@ id: MONDO:0016965 name: partial duplication of the long arm of chromosome 15 def: "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005314] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20885"} subset: ordo_group_of_disorders {source="Orphanet:262950"} synonym: "15q duplication" RELATED [GARD:0005314] synonym: "15q trisomy" RELATED [GARD:0005314] @@ -332058,6 +344927,7 @@ synonym: "partial trisomy 15q" RELATED [GARD:0005314] synonym: "partial trisomy of chromosome 15q" EXACT [Orphanet:262950] synonym: "partial trisomy of the long arm of chromosome 15" EXACT [Orphanet:262950] synonym: "trisomy 15q" RELATED [GARD:0005314] +xref: GARD:20885 {source="Orphanet:262950"} xref: MESH:C538040 {source="MONDO:equivalentTo"} xref: Orphanet:262950 {source="MONDO:equivalentTo"} xref: UMLS:C0795858 {source="GARD:0005314", source="MONDO:equivalentTo"} @@ -332069,7 +344939,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016966 name: partial trisomy of the long arm of chromosome 16 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20886"} subset: ordo_group_of_disorders {source="Orphanet:262959"} synonym: "16q duplication" RELATED [GARD:0005316] synonym: "16q trisomy" RELATED [GARD:0005316] @@ -332081,6 +344951,7 @@ synonym: "partial trisomy 16q" RELATED [GARD:0005316] synonym: "partial trisomy of chromosome 16q" EXACT [Orphanet:262959] synonym: "partial trisomy of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262959] synonym: "trisomy 16q" RELATED [GARD:0005316] +xref: GARD:20886 {source="Orphanet:262959"} xref: MESH:C538042 {source="MONDO:equivalentTo"} xref: Orphanet:262959 {source="MONDO:equivalentTo"} xref: UMLS:C2931711 {source="GARD:0005316", source="MONDO:notFoundInDiseaseSubset"} @@ -332094,7 +344965,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016967 name: partial duplication of the long arm of chromosome 17 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20887"} subset: ordo_group_of_disorders {source="Orphanet:262968"} synonym: "17q duplication" RELATED [GARD:0005320] synonym: "17q trisomy" RELATED [GARD:0005320] @@ -332106,6 +344977,7 @@ synonym: "partial trisomy 17q" RELATED [GARD:0005320] synonym: "partial trisomy of chromosome 17q" EXACT [Orphanet:262968] synonym: "partial trisomy of the long arm of chromosome 17" EXACT [Orphanet:262968] synonym: "trisomy 17q" RELATED [GARD:0005320] +xref: GARD:20887 {source="Orphanet:262968"} xref: Orphanet:262968 {source="MONDO:equivalentTo"} xref: UMLS:C2931247 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005320"} xref: UMLS:CN035860 {source="MONDO:equivalentTo"} @@ -332118,7 +344990,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016968 name: partial trisomy of the long arm of chromosome 18 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20888"} subset: ordo_group_of_disorders {source="Orphanet:262977"} synonym: "18q duplication" RELATED [GARD:0005324] synonym: "18q partial trisomy" RELATED [GARD:0005324] @@ -332130,6 +345002,7 @@ synonym: "partial duplication of the long arm of chromosome 18" EXACT [Orphanet: synonym: "partial trisomy of chromosome 18q" EXACT [Orphanet:262977] synonym: "partial trisomy of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262977] synonym: "trisomy 18q" RELATED [GARD:0005324] +xref: GARD:20888 {source="Orphanet:262977"} xref: MESH:C538308 {source="MONDO:equivalentTo"} xref: Orphanet:262977 {source="MONDO:equivalentTo"} xref: UMLS:C0809935 {source="GARD:0005324", source="MONDO:equivalentTo"} @@ -332142,7 +345015,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016969 name: partial duplication of the long arm of chromosome 19 subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20889"} subset: ordo_group_of_disorders {source="Orphanet:262986"} synonym: "19q duplication" RELATED [GARD:0005326] synonym: "19q trisomy" RELATED [GARD:0005326] @@ -332154,6 +345027,7 @@ synonym: "partial trisomy 19q" RELATED [GARD:0005326] synonym: "partial trisomy of chromosome 19q" EXACT [Orphanet:262986] synonym: "partial trisomy of the long arm of chromosome 19" EXACT [Orphanet:262986] synonym: "trisomy 19q" RELATED [GARD:0005326] +xref: GARD:20889 {source="Orphanet:262986"} xref: MESH:C538311 {source="MONDO:equivalentTo"} xref: Orphanet:262986 {source="MONDO:equivalentTo"} xref: UMLS:C0795871 {source="GARD:0005326", source="MONDO:equivalentTo"} @@ -332166,11 +345040,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016970 name: partial trisomy of the long arm of chromosome 20 subset: disease_grouping +subset: gard_rare {source="GARD:20890"} subset: ordo_group_of_disorders {source="Orphanet:262995"} synonym: "partial duplication of chromosome 20q" EXACT [Orphanet:262995] synonym: "partial duplication of the long arm of chromosome 20" EXACT [Orphanet:262995] synonym: "partial trisomy of chromosome 20q" EXACT [Orphanet:262995] synonym: "partial trisomy of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262995] +xref: GARD:20890 {source="Orphanet:262995"} xref: Orphanet:262995 {source="MONDO:equivalentTo"} is_a: MONDO:0016938 {source="Orphanet:262995"} ! partial trisomy of chromosome 20 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332182,7 +345058,7 @@ id: MONDO:0016971 name: limb-girdle muscular dystrophy def: "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." [Orphanet:263] subset: disease_grouping -subset: gard_rare {source="GARD:0006907"} +subset: gard_rare {source="GARD:6907"} subset: ordo_group_of_disorders {source="Orphanet:263"} synonym: "erb's muscular dystrophy" EXACT [DOID:11724] synonym: "Leyden-Mbius muscular dystrophy" EXACT [DOID:11724] @@ -332191,6 +345067,7 @@ synonym: "LGMD" EXACT ABBREVIATION [Orphanet:263] synonym: "limb girdle muscular dystrophy" EXACT [DOID:11724] synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_PREFERRED [] xref: DOID:11724 {source="MONDO:equivalentTo"} +xref: GARD:6907 {source="Orphanet:263"} xref: ICD10CM:G71.0 {source="DOID:11724", source="Orphanet:263/inclusion", source="Orphanet:263", source="Orphanet:263/ntbt"} xref: MESH:D049288 {source="Orphanet:263/e", source="DOID:11724", source="MONDO:equivalentTo", source="Orphanet:263"} xref: NCIT:C84828 {source="DOID:11724", source="MONDO:equivalentTo"} @@ -332209,11 +345086,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6907/limb-gi id: MONDO:0016972 name: partial duplication of the long arm of chromosome 22 subset: disease_grouping +subset: gard_rare {source="GARD:20891"} subset: ordo_group_of_disorders {source="Orphanet:263004"} synonym: "partial duplication of chromosome 22q" EXACT [Orphanet:263004] synonym: "partial duplication of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:263004] synonym: "partial trisomy of chromosome 22q" EXACT [Orphanet:263004] synonym: "partial trisomy of the long arm of chromosome 22" EXACT [Orphanet:263004] +xref: GARD:20891 {source="Orphanet:263004"} xref: Orphanet:263004 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr22q ! 22q (Human) @@ -332229,6 +345108,7 @@ replaced_by: MONDO:0002588 id: MONDO:0016974 name: thymoma type B def: "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." [NCIT:C7114] +subset: gard_rare {source="GARD:20893"} subset: ordo_histopathological_subtype {source="Orphanet:263317"} synonym: "Dendritic cell thymoma" EXACT [NCIT:C7114] synonym: "dendritic cell thymoma" EXACT [MONDO:0002591] @@ -332240,6 +345120,7 @@ synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317] synonym: "primary thymic epithelial tumour type B" EXACT OMO:0003005 [] synonym: "thymoma type B" EXACT [NCIT:C7114] xref: DOID:3282 {source="MONDO:equivalentTo"} +xref: GARD:20893 {source="Orphanet:263317"} xref: ICD10CM:C37 {source="Orphanet:263317/ntbt", source="Orphanet:263317"} xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263317/ntbt", source="Orphanet:263317"} xref: NCIT:C7114 {source="MONDO:equivalentTo", source="DOID:3282"} @@ -332255,6 +345136,7 @@ intersection_of: disease_has_location CL:0000451 ! dendritic cell id: MONDO:0016975 name: thymoma type AB def: "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." [NCIT:C6885] +subset: gard_rare {source="GARD:20894"} subset: ordo_histopathological_subtype {source="Orphanet:263324"} synonym: "mixed type thymoma" EXACT [NCIT:C6885] synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324] @@ -332264,6 +345146,7 @@ synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885] synonym: "thymoma, mixed type" EXACT [DOID:3280] xref: DOID:3280 {source="MONDO:equivalentTo"} xref: EFO:1000582 {source="MONDO:equivalentTo"} +xref: GARD:20894 {source="Orphanet:263324"} xref: ICD10CM:C37 {source="Orphanet:263324", source="Orphanet:263324/ntbt"} xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263324", source="Orphanet:263324/ntbt"} xref: ICDO:8582/1 {source="NCIT:C6885"} @@ -332276,7 +345159,9 @@ is_a: MONDO:0006456 {source="DOID:3280", source="EFO:1000582", source="NCIT:C688 [Term] id: MONDO:0016976 name: well-differentiated thymic neuroendocrine carcinoma +subset: gard_rare {source="GARD:20895"} subset: ordo_histopathological_subtype {source="Orphanet:263331"} +xref: GARD:20895 {source="Orphanet:263331"} xref: ICD10CM:C37 {source="Orphanet:263331/ntbt", source="Orphanet:263331"} xref: Orphanet:263331 {source="MONDO:equivalentTo"} xref: SCTID:717922007 {source="MONDO:equivalentTo"} @@ -332286,7 +345171,9 @@ is_a: MONDO:0020516 {source="Orphanet:263331"} ! thymic neuroendocrine carcinoma [Term] id: MONDO:0016977 name: moderately-differentiated thymic neuroendocrine carcinoma +subset: gard_rare {source="GARD:20896"} subset: ordo_histopathological_subtype {source="Orphanet:263335"} +xref: GARD:20896 {source="Orphanet:263335"} xref: ICD10CM:C37 {source="Orphanet:263335", source="Orphanet:263335/ntbt"} xref: Orphanet:263335 {source="MONDO:equivalentTo"} xref: UMLS:CN202279 {source="MONDO:equivalentTo"} @@ -332295,7 +345182,9 @@ is_a: MONDO:0020516 {source="Orphanet:263335"} ! thymic neuroendocrine carcinoma [Term] id: MONDO:0016978 name: poorly differentiated thymic neuroendocrine carcinoma +subset: gard_rare {source="GARD:20897"} subset: ordo_histopathological_subtype {source="Orphanet:263339"} +xref: GARD:20897 {source="Orphanet:263339"} xref: ICD10CM:C37 {source="Orphanet:263339/ntbt", source="Orphanet:263339"} xref: Orphanet:263339 {source="MONDO:equivalentTo"} xref: SCTID:717921000 {source="MONDO:equivalentTo"} @@ -332306,8 +345195,10 @@ is_a: MONDO:0020516 {source="Orphanet:263339"} ! thymic neuroendocrine carcinoma id: MONDO:0016979 name: MRCS syndrome def: "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." [Orphanet:263347] +subset: gard_rare {source="GARD:17255"} subset: ordo_disease {source="Orphanet:263347"} synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" EXACT [Orphanet:263347] +xref: GARD:17255 {source="Orphanet:263347"} xref: Orphanet:263347 {source="MONDO:equivalentTo"} xref: UMLS:C2674009 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:263347"} is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy @@ -332333,8 +345224,10 @@ is_obsolete: true [Term] id: MONDO:0016981 name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome +subset: gard_rare {source="GARD:20899"} subset: ordo_disease {source="Orphanet:263410"} synonym: "infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" RELATED [Orphanet:263410] +xref: GARD:20899 {source="Orphanet:263410"} xref: Orphanet:263410 {source="MONDO:equivalentTo"} xref: UMLS:CN202284 {source="MONDO:equivalentTo"} is_a: MONDO:0017578 {source="Orphanet:263410"} ! disorder of thiamine metabolism and transport @@ -332347,6 +345240,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016982 name: angiosarcoma def: "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." [NCIT:C3088] +subset: gard_rare {source="GARD:20900"} subset: ordo_disease {source="Orphanet:263413"} synonym: "angiosarcoma" EXACT [MONDO:ambiguous, NCIT:C3088] synonym: "angiosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -332360,6 +345254,7 @@ synonym: "vascular sarcoma" EXACT [] xref: DOID:0001816 {source="MONDO:equivalentTo", source="EFO:0003968"} xref: EFO:0003967 {source="MONDO:equivalentTo"} xref: EFO:0003968 {source="MONDO:equivalentTo"} +xref: GARD:20900 {source="Orphanet:263413"} xref: HP:0200058 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:263413", source="Orphanet:263413/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -332400,12 +345295,14 @@ property_value: confidence "0.11111111111111116" xsd:double id: MONDO:0016984 name: nevus of Ota def: "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." [Orphanet:263425] +subset: gard_rare {source="GARD:20901"} subset: ordo_disease {source="Orphanet:263425"} synonym: "Nevus fusculoceruleus ophthalmomaxillaris" EXACT [Orphanet:263425] synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583] synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583] synonym: "Ota's Nevus" EXACT [NCIT:C7583] xref: EFO:1000396 {source="MONDO:equivalentTo"} +xref: GARD:20901 {source="Orphanet:263425"} xref: ICD10CM:D22.3 {source="Orphanet:263425/ntbt", source="Orphanet:263425"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051713 {source="Orphanet:263425/e", source="Orphanet:263425"} @@ -332421,12 +345318,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare id: MONDO:0016985 name: nevus of Ito def: "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." [Orphanet:263432] +subset: gard_rare {source="GARD:10830"} subset: ordo_disease {source="Orphanet:263432"} synonym: "hypomelanosis of Ito" RELATED [NCIT:C7582] synonym: "Ito's Nevus" EXACT [NCIT:C7582] synonym: "nevi of Ito" EXACT [GARD:0010830] synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432] xref: EFO:1000395 {source="MONDO:equivalentTo"} +xref: GARD:10830 {source="Orphanet:263432"} xref: ICD10CM:D22.6 {source="Orphanet:263432", source="Orphanet:263432/ntbt"} xref: NCIT:C7582 {source="EFO:1000395", source="MONDO:equivalentTo"} xref: Orphanet:263432 {source="MONDO:equivalentTo"} @@ -332440,7 +345339,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare id: MONDO:0016986 name: congenital smooth muscle hamartoma def: "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." [Orphanet:263435] +subset: gard_rare {source="GARD:20902"} subset: ordo_disease {source="Orphanet:263435"} +xref: GARD:20902 {source="Orphanet:263435"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:263435 {source="MONDO:equivalentTo"} xref: SCTID:239144007 {source="MONDO:equivalentTo"} @@ -332455,9 +345356,11 @@ id: MONDO:0016987 name: neuroacanthocytosis def: "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." [Orphanet:263440] subset: disease_grouping +subset: gard_rare {source="GARD:10902"} subset: ordo_group_of_disorders {source="Orphanet:263440"} synonym: "neuroacanthocytosis syndrome" RELATED [GARD:0010902] xref: DOID:0050765 {source="MONDO:equivalentTo"} +xref: GARD:10902 {source="Orphanet:263440"} xref: MESH:D054546 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C84926 {source="MONDO:equivalentTo"} xref: Orphanet:263440 {source="MONDO:equivalentTo"} @@ -332472,8 +345375,10 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0016988 name: hyperinsulinism due to HNF4A deficiency def: "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." [Orphanet:263455] +subset: gard_rare {source="GARD:20903"} subset: ordo_disease {source="Orphanet:263455"} synonym: "hyperinsulinemic hypoglycemia due to HNF4A deficiency" EXACT [Orphanet:263455] +xref: GARD:20903 {source="Orphanet:263455"} xref: ICD10CM:E16.1 {source="Orphanet:263455", source="Orphanet:263455/attributed", source="Orphanet:263455/ntbt"} xref: Orphanet:263455 {source="MONDO:equivalentTo"} xref: SCTID:717048002 {source="MONDO:equivalentTo"} @@ -332484,6 +345389,7 @@ is_a: MONDO:0015624 {source="Orphanet:263455"} ! diazoxide-sensitive diffuse hyp id: MONDO:0016989 name: Fuchs heterochromic iridocyclitis def: "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." [Orphanet:263479] +subset: gard_rare {source="GARD:6791"} subset: ordo_disease {source="Orphanet:263479"} synonym: "FHI" EXACT ABBREVIATION [Orphanet:263479] synonym: "Fuch's heterochromic iridocyclitis" EXACT [DOID:9375] @@ -332493,6 +345399,7 @@ synonym: "Fuchs uveitis syndrome" EXACT [DOID:9375] synonym: "Fuchs' heterochromic cyclitis" EXACT [DOID:9375, ICD9CM:364.21] synonym: "Fuchs' heterochromic uveitis" EXACT [MONDO:0004771] xref: DOID:9375 {source="MONDO:equivalentTo"} +xref: GARD:6791 {source="Orphanet:263479"} xref: ICD10CM:H20.8 {source="Orphanet:263479", source="Orphanet:263479/ntbt"} xref: ICD10CM:H20.81 {source="DOID:9375"} xref: ICD9:364.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9375"} @@ -332508,11 +345415,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016990 name: acquired prothrombin deficiency def: "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:475"} subset: ordo_disease {source="Orphanet:26348"} synonym: "acquired factor II deficiency" RELATED [GARD:0000475] synonym: "acquired hypoprothrombinemia" EXACT [Orphanet:26348] synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired] synonym: "hypoprothrombinemia, acquired" RELATED [GARD:0000475] +xref: GARD:475 {source="Orphanet:26348"} xref: ICD10CM:D68.4 {source="Orphanet:26348/ntbt", source="Orphanet:26348"} xref: MESH:C538174 {source="MONDO:equivalentTo"} xref: NCIT:C131622 {source="MONDO:equivalentTo"} @@ -332528,10 +345437,12 @@ relationship: excluded_subClassOf MONDO:0013361 {source="MESH:C538174"} ! congen id: MONDO:0016991 name: acute necrotizing encephalopathy of childhood def: "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." [Orphanet:263524] +subset: gard_rare {source="GARD:17257"} subset: ordo_disease {source="Orphanet:263524"} synonym: "ANEC" EXACT ABBREVIATION [Orphanet:263524] synonym: "isolated acute necrotizing encephalopathy" EXACT [Orphanet:263524] synonym: "isolated ANE" EXACT [Orphanet:263524] +xref: GARD:17257 {source="Orphanet:263524"} xref: ICD10CM:G31.8 {source="Orphanet:263524/ntbt", source="Orphanet:263524"} xref: Orphanet:263524 {source="MONDO:equivalentTo"} xref: SCTID:763310000 {source="MONDO:equivalentTo"} @@ -332549,10 +345460,12 @@ replaced_by: MONDO:0024548 [Term] id: MONDO:0016993 name: generalized peeling skin syndrome type C +subset: gard_rare {source="GARD:20904"} subset: ordo_clinical_subtype {source="Orphanet:263558"} synonym: "generalised deciduous skin type C" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558] synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558] +xref: GARD:20904 {source="Orphanet:263558"} xref: ICD10CM:Q80.8 {source="Orphanet:263558", source="Orphanet:263558/attributed", source="Orphanet:263558/ntbt"} xref: Orphanet:263558 {source="MONDO:equivalentTo"} xref: UMLS:CN202307 {source="MONDO:equivalentTo"} @@ -332562,7 +345475,7 @@ is_a: MONDO:0010033 {source="Orphanet:263558"} ! generalized peeling skin syndro id: MONDO:0016994 name: microcephalic osteodysplastic primordial dwarfism types I and III def: "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." [Orphanet:2636] -subset: gard_rare +subset: gard_rare {source="GARD:5120"} subset: ordo_malformation_syndrome {source="Orphanet:2636"} synonym: "Brachymelic primordial dwarfism" RELATED [GARD:0005120] synonym: "Cephaloskeletal dysplasia" RELATED [GARD:0005120] @@ -332575,6 +345488,7 @@ synonym: "MOPD types I and III" EXACT [Orphanet:2636] synonym: "osteodysplastic primordial dwarfism type I" RELATED [GARD:0005120] synonym: "primordial microcephalic dwarfism, Crachami type" EXACT [GARD:0005120, Orphanet:2636] synonym: "Taybi-Linder syndrome" EXACT [Orphanet:2636] +xref: GARD:5120 {source="Orphanet:2636"} xref: ICD10CM:Q87.1 {source="Orphanet:2636", source="Orphanet:2636/attributed", source="Orphanet:2636/ntbt"} xref: Orphanet:2636 {source="MONDO:equivalentTo", source="GARD:0005120"} xref: SCTID:725461009 {source="MONDO:equivalentTo"} @@ -332590,7 +345504,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5120/microce id: MONDO:0016995 name: familial multiple meningioma def: "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." [Orphanet:263662] +subset: gard_rare {source="GARD:17260"} subset: ordo_disease {source="Orphanet:263662"} +xref: GARD:17260 {source="Orphanet:263662"} xref: ICD10CM:D32.9 {source="Orphanet:263662/ntbt", source="Orphanet:263662"} xref: Orphanet:263662 {source="MONDO:equivalentTo"} xref: UMLS:CN202309 {source="MONDO:equivalentTo"} @@ -332601,7 +345517,9 @@ id: MONDO:0016996 name: NK-cell enteropathy def: "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." [Orphanet:263665] comment: Editor note: TODO - complete axioms +subset: gard_rare {source="GARD:20905"} subset: ordo_disease {source="Orphanet:263665"} +xref: GARD:20905 {source="Orphanet:263665"} xref: ICD10CM:K63.8 {source="Orphanet:263665", source="Orphanet:263665/ntbt"} xref: Orphanet:263665 {source="MONDO:equivalentTo"} xref: SCTID:723496007 {source="MONDO:equivalentTo"} @@ -332624,7 +345542,9 @@ id: MONDO:0016998 name: obsolete complex chromosomal rearrangement comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:20906"} subset: ordo_group_of_disorders {source="Orphanet:263708"} +xref: GARD:20906 {source="Orphanet:263708", source="MONDO:obsoleteEquivalent"} xref: Orphanet:263708 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -332635,7 +345555,9 @@ id: MONDO:0016999 name: obsolete X chromosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping +subset: gard_rare {source="GARD:20907"} subset: ordo_group_of_disorders {source="Orphanet:263714"} +xref: GARD:20907 {source="MONDO:obsoleteEquivalent", source="Orphanet:263714"} xref: Orphanet:263714 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -332646,7 +345568,9 @@ consider: MONDO:0700064 id: MONDO:0017000 name: obsolete X chromosome number anomaly with female phenotype subset: disease_grouping +subset: gard_rare {source="GARD:20908"} subset: ordo_group_of_disorders {source="Orphanet:263717"} +xref: GARD:20908 {source="Orphanet:263717", source="MONDO:obsoleteEquivalent"} xref: Orphanet:263717 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -332654,7 +345578,9 @@ is_obsolete: true id: MONDO:0017001 name: obsolete X chromosome number anomaly with male phenotype subset: disease_grouping +subset: gard_rare {source="GARD:20909"} subset: ordo_group_of_disorders {source="Orphanet:263720"} +xref: GARD:20909 {source="MONDO:obsoleteEquivalent", source="Orphanet:263720"} xref: Orphanet:263720 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -332663,7 +345589,9 @@ id: MONDO:0017002 name: obsolete polysomy of X chromosome comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping +subset: gard_rare {source="GARD:20910"} subset: ordo_group_of_disorders {source="Orphanet:263723"} +xref: GARD:20910 {source="MONDO:obsoleteEquivalent", source="Orphanet:263723"} xref: Orphanet:263723 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -332674,9 +345602,11 @@ consider: MONDO:0700064 id: MONDO:0017003 name: partial deletion of chromosome X subset: disease_grouping +subset: gard_rare {source="GARD:20911"} subset: ordo_group_of_disorders {source="Orphanet:261811", source="Orphanet:263726"} synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1, Orphanet:263726] synonym: "partial monosomy of chromosome X" EXACT [Orphanet:263726] +xref: GARD:20911 {source="Orphanet:263726"} xref: ICD10CM:Q99.8 {source="Orphanet:263726/attributed", source="Orphanet:263726/ntbt", source="Orphanet:263726"} xref: Orphanet:263726 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -332687,11 +345617,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017004 name: partial monosomy of the short arm of chromosome X subset: disease_grouping +subset: gard_rare {source="GARD:20912"} subset: ordo_group_of_disorders {source="Orphanet:263731"} synonym: "partial deletion of chromosome Xp" EXACT [Orphanet:263731] synonym: "partial deletion of the short arm of chromosome X" EXACT [Orphanet:263731] synonym: "partial monosomy of chromosome Xp" EXACT [Orphanet:263731] synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263731] +xref: GARD:20912 {source="Orphanet:263731"} xref: ICD10CM:Q99.8 {source="Orphanet:263731", source="Orphanet:263731/attributed", source="Orphanet:263731/ntbt"} xref: Orphanet:263731 {source="MONDO:equivalentTo"} is_a: MONDO:0017003 {source="Orphanet:263731"} ! partial deletion of chromosome X @@ -332704,7 +345636,9 @@ id: MONDO:0017005 name: obsolete Y chromosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping +subset: gard_rare {source="GARD:20913"} subset: ordo_group_of_disorders {source="Orphanet:263746"} +xref: GARD:20913 {source="MONDO:obsoleteEquivalent", source="Orphanet:263746"} xref: Orphanet:263746 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -332716,7 +345650,9 @@ id: MONDO:0017006 name: obsolete X and Y chromosomal anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:20914"} subset: ordo_group_of_disorders {source="Orphanet:263749"} +xref: GARD:20914 {source="MONDO:obsoleteEquivalent", source="Orphanet:263749"} xref: ICD10CM:Q98.8 {source="Orphanet:263749/attributed", source="Orphanet:263749/ntbt", source="Orphanet:263749"} xref: Orphanet:263749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332727,11 +345663,13 @@ is_obsolete: true id: MONDO:0017007 name: partial deletion of the long arm of chromosome X subset: disease_grouping +subset: gard_rare {source="GARD:20915"} subset: ordo_group_of_disorders {source="Orphanet:263756"} synonym: "partial deletion of chromosome Xq" EXACT [Orphanet:263756] synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263756] synonym: "partial monosomy of chromosome Xq" EXACT [Orphanet:263756] synonym: "partial monosomy of the long arm of chromosome X" EXACT [Orphanet:263756] +xref: GARD:20915 {source="Orphanet:263756"} xref: ICD10CM:Q99.8 {source="Orphanet:263756", source="Orphanet:263756/attributed", source="Orphanet:263756/ntbt"} xref: Orphanet:263756 {source="MONDO:equivalentTo"} is_a: MONDO:0017003 {source="Orphanet:263756"} ! partial deletion of chromosome X @@ -332743,9 +345681,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017008 name: partial duplication of chromosome X subset: disease_grouping +subset: gard_rare {source="GARD:20916"} subset: ordo_group_of_disorders {source="Orphanet:263768", source="Orphanet:262648"} synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1, Orphanet:263768] synonym: "partial trisomy of chromosome X" EXACT [Orphanet:263768] +xref: GARD:20916 {source="Orphanet:263768"} xref: ICD10CM:Q99.8 {source="Orphanet:263768/attributed", source="Orphanet:263768/ntbt", source="Orphanet:263768"} xref: Orphanet:263768 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332756,11 +345696,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017009 name: partial duplication of the short arm of chromosome X subset: disease_grouping +subset: gard_rare {source="GARD:12421"} subset: ordo_group_of_disorders {source="Orphanet:263775", source="Orphanet:262776"} synonym: "partial duplication of chromosome Xp" EXACT [Orphanet:263775] synonym: "partial duplication of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263775] synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421, Orphanet:263775] synonym: "partial trisomy of the short arm of chromosome X" EXACT [Orphanet:263775] +xref: GARD:12421 {source="Orphanet:263775"} xref: ICD10CM:Q99.8 {source="Orphanet:263775", source="Orphanet:263775/attributed", source="Orphanet:263775/ntbt"} xref: Orphanet:263775 {source="MONDO:equivalentTo"} is_a: MONDO:0017008 {source="Orphanet:263775"} ! partial duplication of chromosome X @@ -332773,7 +345715,7 @@ id: MONDO:0017010 name: partial duplication of the long arm of chromosome X def: "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005369] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20917"} subset: ordo_group_of_disorders synonym: "chromosome Xq duplication" RELATED [GARD:0005369] synonym: "Duplication Xq" RELATED [GARD:0005369] @@ -332785,6 +345727,7 @@ synonym: "partial trisomy Xq" RELATED [GARD:0005369] synonym: "trisomy Xq" RELATED [GARD:0005369] synonym: "Xq duplication" RELATED [GARD:0005369] synonym: "Xq trisomy" RELATED [GARD:0005369] +xref: GARD:20917 {source="Orphanet:263783"} xref: ICD10CM:Q99.8 {source="Orphanet:263783/attributed", source="Orphanet:263783/ntbt", source="Orphanet:263783"} xref: MESH:C536732 {source="MONDO:equivalentTo"} xref: Orphanet:263783 {source="MONDO:equivalentTo"} @@ -332799,9 +345742,11 @@ id: MONDO:0017011 name: obsolete uniparental disomy of chromosome X comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:20918"} subset: ordo_group_of_disorders {source="Orphanet:263793"} synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793] synonym: "UPD(X)" EXACT [Orphanet:263793] +xref: GARD:20918 {source="MONDO:obsoleteEquivalent", source="Orphanet:263793"} xref: ICD10CM:Q99.8 {source="Orphanet:263793/attributed", source="Orphanet:263793/ntbt", source="Orphanet:263793"} xref: Orphanet:263793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332812,10 +345757,12 @@ is_obsolete: true id: MONDO:0017012 name: partial duplication of the short arm of chromosome 1 subset: disease_grouping +subset: gard_rare {source="GARD:20919"} subset: ordo_group_of_disorders {source="Orphanet:264431"} synonym: "partial duplication of chromosome 1p" EXACT [Orphanet:264431] synonym: "partial duplication of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:264431] synonym: "partial trisomy of chromosome 1p" EXACT [Orphanet:264431] +xref: GARD:20919 {source="Orphanet:264431"} xref: Orphanet:264431 {source="MONDO:equivalentTo"} is_a: MONDO:0016921 {source="Orphanet:264431"} ! partial duplication of chromosome 1 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332826,9 +345773,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017013 name: trisomy 8p def: "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." [Orphanet:264450] +subset: gard_rare {source="GARD:20920"} subset: ordo_malformation_syndrome {source="Orphanet:264450"} synonym: "Duplication 8p" EXACT [Orphanet:264450] synonym: "trisomy type 8p" EXACT [MONDORULE:4, Orphanet:264450] +xref: GARD:20920 {source="Orphanet:264450"} xref: ICD10CM:Q92.2 {source="Orphanet:264450", source="Orphanet:264450/attributed", source="Orphanet:264450/ntbt"} xref: MESH:C538019 {source="MONDO:equivalentTo"} xref: Orphanet:264450 {source="MONDO:equivalentTo"} @@ -332840,6 +345789,7 @@ name: interstitial lung disease specific to childhood def: "A interstitial lung disease that occurs during childhood." [MONDO:design_pattern] comment: The terms chILD or chILD syndrome (not preferred) have been coined to memorize easily and to identify a phenotype that requires prompt and expert evaluation. subset: disease_grouping +subset: gard_rare {source="GARD:20921"} subset: ordo_group_of_disorders {source="Orphanet:264656"} synonym: "chILD" EXACT [PMID:23905526] synonym: "chILD syndrome" EXACT [PMID:23905526] @@ -332848,6 +345798,7 @@ synonym: "ILD specific to childhood" EXACT [Orphanet:264656] synonym: "interstitial lung disease of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric interstitial lung disease" EXACT OMO:0003005 [] synonym: "pediatric interstitial lung disease" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +xref: GARD:20921 {source="Orphanet:264656"} xref: Orphanet:264656 {source="MONDO:equivalentTo"} xref: SCTID:328661000119108 {source="MONDO:equivalentTo"} xref: UMLS:CN202324 {source="MONDO:equivalentTo"} @@ -332860,12 +345811,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017015 name: primary interstitial lung disease specific to childhood subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:10559"} subset: ordo_group_of_disorders {source="Orphanet:264665"} synonym: "child" RELATED [GARD:0010559] synonym: "children's interstitial lung disease" RELATED [GARD:0010559] synonym: "primary ILD specific to childhood" EXACT [GARD:0010559, Orphanet:264665] synonym: "primary interstitial lung disease specific to childhood" EXACT [GARD:0010559] +xref: GARD:10559 {source="Orphanet:264665"} xref: Orphanet:264665 {source="MONDO:equivalentTo", source="GARD:0010559"} xref: UMLS:CN202326 {source="MONDO:equivalentTo"} is_a: MONDO:0017014 {source="Orphanet:264665", source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease specific to childhood @@ -332875,8 +345827,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10559/childr id: MONDO:0017016 name: obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20922"} subset: ordo_group_of_disorders {source="Orphanet:264670"} synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [Orphanet:264670] +xref: GARD:20922 {source="Orphanet:264670", source="MONDO:obsoleteEquivalent"} xref: Orphanet:264670 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332888,8 +345842,10 @@ consider: MONDO:0015925 id: MONDO:0017017 name: obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20923"} subset: ordo_group_of_disorders {source="Orphanet:264683"} synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [Orphanet:264683] +xref: GARD:20923 {source="Orphanet:264683", source="MONDO:obsoleteEquivalent"} xref: Orphanet:264683 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202329 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332901,7 +345857,9 @@ consider: MONDO:0015925 id: MONDO:0017018 name: isolated pulmonary capillaritis def: "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." [Orphanet:264691] +subset: gard_rare {source="GARD:20924"} subset: ordo_disease {source="Orphanet:264691"} +xref: GARD:20924 {source="Orphanet:264691"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:264691 {source="MONDO:equivalentTo"} xref: SCTID:707436001 {source="MONDO:equivalentTo"} @@ -332913,8 +345871,10 @@ is_a: MONDO:0015925 {source="Orphanet:264691"} ! interstitial lung disease id: MONDO:0017019 name: interstitial lung disease specific to infancy subset: disease_grouping +subset: gard_rare {source="GARD:20925"} subset: ordo_group_of_disorders {source="Orphanet:264694"} synonym: "ILD specific to infancy" EXACT [Orphanet:264694] +xref: GARD:20925 {source="Orphanet:264694"} xref: Orphanet:264694 {source="MONDO:equivalentTo"} xref: UMLS:CN202332 {source="MONDO:equivalentTo"} is_a: MONDO:0017015 {source="Orphanet:264694"} ! primary interstitial lung disease specific to childhood @@ -332923,8 +345883,10 @@ is_a: MONDO:0017015 {source="Orphanet:264694"} ! primary interstitial lung disea id: MONDO:0017020 name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20926"} subset: ordo_group_of_disorders {source="Orphanet:264699"} synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [Orphanet:264699] +xref: GARD:20926 {source="MONDO:obsoleteEquivalent", source="Orphanet:264699"} xref: Orphanet:264699 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202333 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332936,8 +345898,10 @@ consider: MONDO:0015925 id: MONDO:0017021 name: obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20927"} subset: ordo_group_of_disorders {source="Orphanet:264704"} synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [Orphanet:264704] +xref: GARD:20927 {source="MONDO:obsoleteEquivalent", source="Orphanet:264704"} xref: Orphanet:264704 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202334 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332949,8 +345913,10 @@ consider: MONDO:0015925 id: MONDO:0017022 name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20928"} subset: ordo_group_of_disorders {source="Orphanet:264709"} synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [Orphanet:264709] +xref: GARD:20928 {source="Orphanet:264709", source="MONDO:obsoleteEquivalent"} xref: Orphanet:264709 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202335 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332962,8 +345928,10 @@ consider: MONDO:0015925 id: MONDO:0017023 name: obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20929"} subset: ordo_group_of_disorders {source="Orphanet:264714"} synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [Orphanet:264714] +xref: GARD:20929 {source="MONDO:obsoleteEquivalent", source="Orphanet:264714"} xref: Orphanet:264714 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202336 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -332975,8 +345943,10 @@ consider: MONDO:0015925 id: MONDO:0017024 name: obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20930"} subset: ordo_group_of_disorders {source="Orphanet:264719"} synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [Orphanet:264719] +xref: GARD:20930 {source="Orphanet:264719", source="MONDO:obsoleteEquivalent"} xref: Orphanet:264719 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202337 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333003,8 +345973,10 @@ is_a: MONDO:0018310 {source="NCIT:C114483"} ! Langerhans cell histiocytosis id: MONDO:0017026 name: interstitial lung disease specific to adulthood subset: disease_grouping +subset: gard_rare {source="GARD:20931"} subset: ordo_group_of_disorders {source="Orphanet:264735"} synonym: "ILD specific to adulthood" EXACT [Orphanet:264735] +xref: GARD:20931 {source="Orphanet:264735"} xref: Orphanet:264735 {source="MONDO:equivalentTo"} xref: UMLS:CN202338 {source="MONDO:equivalentTo"} is_a: MONDO:0015925 {source="Orphanet:264735", source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease @@ -333012,7 +345984,9 @@ is_a: MONDO:0015925 {source="Orphanet:264735", source="https://orcid.org/0000-00 [Term] id: MONDO:0017027 name: obsolete primary interstitial lung disease specific to adulthood +subset: gard_rare {source="GARD:20932"} synonym: "primary ILD specific to adulthood" EXACT [Orphanet:264740] +xref: GARD:20932 {source="MONDO:obsoleteEquivalent", source="Orphanet:264740"} xref: Orphanet:264740 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202339 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333024,8 +345998,10 @@ is_obsolete: true id: MONDO:0017028 name: obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20933"} subset: ordo_group_of_disorders {source="Orphanet:264745"} synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [Orphanet:264745] +xref: GARD:20933 {source="MONDO:obsoleteEquivalent", source="Orphanet:264745"} xref: Orphanet:264745 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202340 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333052,7 +346028,9 @@ is_a: MONDO:0018310 {source="NCIT:C114929"} ! Langerhans cell histiocytosis [Term] id: MONDO:0017030 name: obsolete interstitial lung disease in childhood and adulthood +subset: gard_rare {source="GARD:20934"} synonym: "ILD in childhood and adulthood" EXACT [Orphanet:264757] +xref: GARD:20934 {source="MONDO:obsoleteEquivalent", source="Orphanet:264757"} xref: Orphanet:264757 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202341 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333063,7 +346041,9 @@ is_obsolete: true [Term] id: MONDO:0017031 name: obsolete primary interstitial lung disease in childhood and adulthood +subset: gard_rare {source="GARD:20935"} synonym: "primary ILD in childhood and adulthood" EXACT [Orphanet:264762] +xref: GARD:20935 {source="MONDO:obsoleteEquivalent", source="Orphanet:264762"} xref: Orphanet:264762 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333075,8 +346055,10 @@ is_obsolete: true id: MONDO:0017032 name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20936"} subset: ordo_group_of_disorders {source="Orphanet:264930"} synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [Orphanet:264930] +xref: GARD:20936 {source="MONDO:obsoleteEquivalent", source="Orphanet:264930"} xref: Orphanet:264930 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202344 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333088,8 +346070,10 @@ consider: MONDO:0015925 id: MONDO:0017033 name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20937"} subset: ordo_group_of_disorders {source="Orphanet:264935"} synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [Orphanet:264935] +xref: GARD:20937 {source="MONDO:obsoleteEquivalent", source="Orphanet:264935"} xref: Orphanet:264935 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202345 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333100,7 +346084,9 @@ consider: MONDO:0015925 [Term] id: MONDO:0017034 name: obsolete secondary interstitial lung disease in childhood and adulthood +subset: gard_rare {source="GARD:20938"} synonym: "secondary ILD in childhood and adulthood" EXACT [Orphanet:264944] +xref: GARD:20938 {source="MONDO:obsoleteEquivalent", source="Orphanet:264944"} xref: Orphanet:264944 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333112,8 +346098,10 @@ is_obsolete: true id: MONDO:0017035 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20939"} subset: ordo_group_of_disorders {source="Orphanet:264949"} synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [Orphanet:264949] +xref: GARD:20939 {source="Orphanet:264949", source="MONDO:obsoleteEquivalent"} xref: Orphanet:264949 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333139,8 +346127,10 @@ is_obsolete: true id: MONDO:0017037 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20940"} subset: ordo_group_of_disorders {source="Orphanet:264968"} synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [Orphanet:264968] +xref: GARD:20940 {source="MONDO:obsoleteEquivalent", source="Orphanet:264968"} xref: Orphanet:264968 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202348 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333152,8 +346142,10 @@ consider: MONDO:0015925 id: MONDO:0017038 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' +subset: gard_rare {source="GARD:20941"} subset: ordo_group_of_disorders {source="Orphanet:264973"} synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [Orphanet:264973] +xref: GARD:20941 {source="MONDO:obsoleteEquivalent", source="Orphanet:264973"} xref: Orphanet:264973 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202349 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -333164,7 +346156,9 @@ consider: MONDO:0015925 [Term] id: MONDO:0017039 name: drug or radiation exposure-related interstitial lung disease +subset: gard_rare {source="GARD:20942"} subset: ordo_clinical_situation {source="Orphanet:264978"} +xref: GARD:20942 {source="Orphanet:264978"} xref: ICD10CM:J70.0 {source="Orphanet:264978/btnt", source="Orphanet:264978"} xref: ICD10CM:J70.1 {source="Orphanet:264978/btnt", source="Orphanet:264978"} xref: ICD10CM:J70.2 {source="Orphanet:264978/btnt", source="Orphanet:264978"} @@ -333179,6 +346173,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017040 name: obsolete exposure-related interstitial lung disease +subset: gard_rare {source="GARD:20943"} +xref: GARD:20943 {source="MONDO:obsoleteEquivalent", source="Orphanet:264984"} xref: Orphanet:264984 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333190,8 +346186,10 @@ is_obsolete: true id: MONDO:0017041 name: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome def: "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." [Orphanet:2653] +subset: gard_rare {source="GARD:18776"} subset: ordo_malformation_syndrome {source="Orphanet:2653"} synonym: "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" EXACT [Orphanet:2653] +xref: GARD:18776 {source="Orphanet:2653"} xref: Orphanet:2653 {source="MONDO:equivalentTo"} xref: SCTID:722108000 {source="MONDO:equivalentTo"} xref: UMLS:CN202358 {source="MONDO:equivalentTo"} @@ -333208,12 +346206,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017042 name: thanatophoric dysplasia def: "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." [Orphanet:2655] -subset: gard_rare +subset: gard_rare {source="GARD:85"} subset: ordo_disease {source="Orphanet:2655"} synonym: "dwarfism thanatophoric" RELATED [GARD:0000085] synonym: "Td" EXACT [Orphanet:2655] synonym: "thanatophoric dwarfism" EXACT [Orphanet:2655] xref: DOID:13481 {source="MONDO:equivalentTo"} +xref: GARD:85 {source="Orphanet:2655"} xref: ICD10CM:Q77.1 {source="DOID:13481", source="Orphanet:2655", source="Orphanet:2655/specific", source="Orphanet:2655/e"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049808 {source="Orphanet:2655", source="Orphanet:2655/e"} @@ -333233,13 +346232,14 @@ relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:2655"} ! obsol id: MONDO:0017043 name: congenital mesoblastic nephroma def: "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." [NCIT:C6569] -subset: gard_rare {source="GARD:0001493"} +subset: gard_rare {source="GARD:1493"} subset: ordo_disease {source="Orphanet:2665"} synonym: "CMn" EXACT [NCIT:C6569] synonym: "congenital mesoblastic nephroma" EXACT [NCIT:C6569] synonym: "mesoblastic nephroma" BROAD [NCIT:C6569] synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569] xref: DOID:4773 {source="MONDO:equivalentTo"} +xref: GARD:1493 {source="Orphanet:2665"} xref: ICD10CM:D41.0 {source="Orphanet:2665/ntbt", source="Orphanet:2665"} xref: ICDO:8960/1 {source="NCIT:C6569"} xref: MedDRA:10070665 {source="Orphanet:2665", source="Orphanet:2665/e"} @@ -333261,7 +346261,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1493/congeni id: MONDO:0017044 name: adult familial nephronophthisis-spastic quadriparesia syndrome def: "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." [Orphanet:2666] +subset: gard_rare {source="GARD:18777"} subset: ordo_disease {source="Orphanet:2666"} +xref: GARD:18777 {source="Orphanet:2666"} xref: Orphanet:2666 {source="MONDO:equivalentTo"} xref: UMLS:CN202376 {source="MONDO:equivalentTo"} is_a: MONDO:0019741 {source="Orphanet:2666"} ! familial cystic renal disease @@ -333270,7 +346272,6 @@ is_a: MONDO:0019741 {source="Orphanet:2666"} ! familial cystic renal disease id: MONDO:0017045 name: neuroectodermal-endocrine syndrome def: "Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." [Orphanet:2676] -subset: gard_rare {source="GARD:0003959"} subset: ordo_malformation_syndrome {source="Orphanet:2676"} synonym: "neuroectodermal endocrine syndrome" RELATED [GARD:0003959] synonym: "Oerter-Friedman-Anderson syndrome" EXACT [Orphanet:2676] @@ -333291,7 +346292,6 @@ id: MONDO:0017046 name: neuroepithelioma def: "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." [Orphanet:2677] comment: Editor note: see also MONDO:0005462 and MONDO:0021193 -subset: gard_rare {source="GARD:0003963"} subset: ordo_disease {source="Orphanet:2677"} xref: ICD10CM:C71.9 {source="Orphanet:2677", source="Orphanet:2677/ntbt"} xref: MESH:D018241 {source="Orphanet:2677", source="Orphanet:2677/e"} @@ -333308,7 +346308,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3963/neuroep [Term] id: MONDO:0017047 name: infantile axonal neuropathy -subset: gard_rare {source="GARD:0002996"} subset: ordo_disease {source="Orphanet:2679"} xref: ICD10CM:G60.8 {source="Orphanet:2679", source="Orphanet:2679/attributed", source="Orphanet:2679/ntbt"} xref: Orphanet:2679 {source="MONDO:equivalentObsolete"} @@ -333321,7 +346320,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2996/infanti id: MONDO:0017048 name: pseudomyxoma peritonei def: "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." [Orphanet:26790] -subset: gard_rare +subset: gard_rare {source="GARD:7488"} subset: ordo_disease {source="Orphanet:26790"} synonym: "Adenomucinosis" EXACT [Orphanet:26790] synonym: "gelatinous ascites" EXACT [NCIT:C3345, Orphanet:26790] @@ -333335,6 +346334,7 @@ synonym: "syndrome of pseudomyxoma peritonei" RELATED [GARD:0007488] synonym: "well differentiated peritoneal mucinous adenocarcinoma" EXACT [NCIT:C3345] xref: DOID:3559 {source="MONDO:equivalentTo"} xref: EFO:0007456 {source="MONDO:equivalentTo"} +xref: GARD:7488 {source="Orphanet:26790"} xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/ntbt"} xref: ICDO:8480/6 {source="NCIT:C3345"} xref: MedDRA:10037138 {source="Orphanet:26790", source="Orphanet:26790/e"} @@ -333351,7 +346351,9 @@ is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C3345"} ! mucinous a id: MONDO:0017049 name: obsolete hypomyelination neuropathy-arthrogryposis syndrome def: "OBSOLETE. Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." [Orphanet:2680] +subset: gard_rare {source="GARD:16604"} synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680] +xref: GARD:16604 {source="MONDO:obsoleteEquivalent", source="Orphanet:2680"} xref: Orphanet:2680 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202399 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333364,9 +346366,11 @@ is_obsolete: true id: MONDO:0017050 name: intraocular medulloepithelioma def: "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." [Orphanet:268139] +subset: gard_rare {source="GARD:20945"} subset: ordo_disease {source="Orphanet:268139"} synonym: "intraocular medulloepithelioma" EXACT [NCIT:C66806] synonym: "orbital medulloepithelioma" EXACT [Orphanet:268139] +xref: GARD:20945 {source="Orphanet:268139"} xref: NCIT:C66806 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:268139 {source="MONDO:equivalentTo"} xref: UMLS:C1883694 {source="NCIT:C66806", source="MONDO:equivalentTo"} @@ -333379,6 +346383,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare id: MONDO:0017051 name: classic maple syrup urine disease def: "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." [Orphanet:268145] +subset: gard_rare {source="GARD:17263"} subset: ordo_clinical_subtype {source="Orphanet:268145"} synonym: "classic BCKD deficiency" EXACT [Orphanet:268145] synonym: "classic branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145] @@ -333386,6 +346391,7 @@ synonym: "classic branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT synonym: "classic branched-chain ketoaciduria" EXACT [Orphanet:268145] synonym: "classic maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "classic MSUD" EXACT [Orphanet:268145] +xref: GARD:17263 {source="Orphanet:268145"} xref: ICD10CM:E71.0 {source="Orphanet:268145", source="Orphanet:268145/attributed", source="Orphanet:268145/ntbt"} xref: Orphanet:268145 {source="MONDO:equivalentTo"} xref: UMLS:C0268568 {source="Orphanet:268145", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268145/e"} @@ -333398,12 +346404,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017052 name: intermediate maple syrup urine disease def: "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." [Orphanet:268162] +subset: gard_rare {source="GARD:17264"} subset: ordo_clinical_subtype {source="Orphanet:268162"} synonym: "Intermediate BCKD deficiency" EXACT [Orphanet:268162] synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162] synonym: "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162] synonym: "intermediate maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "Intermediate MSUD" EXACT [Orphanet:268162] +xref: GARD:17264 {source="Orphanet:268162"} xref: ICD10CM:E71.0 {source="Orphanet:268162", source="Orphanet:268162/attributed", source="Orphanet:268162/ntbt"} xref: Orphanet:268162 {source="MONDO:equivalentTo"} xref: SCTID:405287008 {source="MONDO:equivalentTo"} @@ -333417,12 +346425,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017053 name: intermittent maple syrup urine disease def: "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." [Orphanet:268173] +subset: gard_rare {source="GARD:17265"} subset: ordo_clinical_subtype {source="Orphanet:268173"} synonym: "intermittent BCKD deficiency" EXACT [Orphanet:268173] synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173] synonym: "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173] synonym: "intermittent maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "intermittent MSUD" EXACT [Orphanet:268173] +xref: GARD:17265 {source="Orphanet:268173"} xref: ICD10CM:E71.0 {source="Orphanet:268173", source="Orphanet:268173/attributed", source="Orphanet:268173/ntbt"} xref: Orphanet:268173 {source="MONDO:equivalentTo"} xref: SCTID:405288003 {source="MONDO:equivalentTo"} @@ -333436,12 +346446,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017054 name: thiamine-responsive maple syrup urine disease def: "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." [Orphanet:268184] +subset: gard_rare {source="GARD:17266"} subset: ordo_clinical_subtype {source="Orphanet:268184"} synonym: "thiamine-responsive BCKD deficiency" EXACT [Orphanet:268184] synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184] synonym: "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184] synonym: "thiamine-responsive maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "thiamine-responsive MSUD" EXACT [Orphanet:268184] +xref: GARD:17266 {source="Orphanet:268184"} xref: ICD10CM:E71.0 {source="Orphanet:268184", source="Orphanet:268184/attributed", source="Orphanet:268184/ntbt"} xref: Orphanet:268184 {source="MONDO:equivalentTo"} xref: UMLS:C0751285 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268184"} @@ -333456,8 +346468,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017055 name: mycophenolate mofetil embryopathy def: "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." [Orphanet:268249] +subset: gard_rare {source="GARD:20946"} subset: ordo_disease {source="Orphanet:268249"} synonym: "MMF embryopathy" EXACT [Orphanet:268249] +xref: GARD:20946 {source="Orphanet:268249"} xref: ICD10CM:Q86.8 {source="Orphanet:268249/ntbt", source="Orphanet:268249"} xref: Orphanet:268249 {source="MONDO:equivalentTo"} xref: SCTID:723406000 {source="MONDO:equivalentTo"} @@ -333467,12 +346481,14 @@ is_a: MONDO:0016677 {source="Orphanet:268249"} ! toxic or drug-related embryofet [Term] id: MONDO:0017056 name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion +subset: gard_rare {source="GARD:20947"} subset: ordo_clinical_subtype {source="Orphanet:268261"} synonym: "21q22.13-q22.2 microdeletion syndrome" EXACT [Orphanet:268261] synonym: "21q22.13q22.2 microdeletion syndrome" EXACT [Orphanet:268261] synonym: "Del(21)(q22.13q22.2)" EXACT [Orphanet:268261] synonym: "monosomy 21q22.13-q22.2" EXACT [Orphanet:268261] synonym: "monosomy 21q22.13q22.2" EXACT [Orphanet:268261] +xref: GARD:20947 {source="Orphanet:268261"} xref: ICD10CM:Q93.5 {source="Orphanet:268261", source="Orphanet:268261/attributed", source="Orphanet:268261/ntbt"} xref: Orphanet:268261 {source="MONDO:equivalentTo"} xref: UMLS:CN202414 {source="MONDO:equivalentTo"} @@ -333485,6 +346501,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017057 name: obsolete hereditary thrombocytopenia with normal platelets +subset: gard_rare {source="GARD:17267"} +xref: GARD:17267 {source="Orphanet:268322", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.4 {source="Orphanet:268322", source="Orphanet:268322/attributed", source="Orphanet:268322/ntbt"} xref: Orphanet:268322 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227073 {source="MONDO:obsoleteEquivalent"} @@ -333499,11 +346517,12 @@ id: MONDO:0017058 name: autosomal recessive intermediate Charcot-Marie-Tooth disease def: "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_recessive] subset: disease_grouping -subset: gard_rare {source="GARD:0012452"} +subset: gard_rare {source="GARD:12452"} subset: ordo_group_of_disorders {source="Orphanet:268337"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT [] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "RI-CMT" EXACT [Orphanet:268337] +xref: GARD:12452 {source="Orphanet:268337"} xref: ICD10CM:G60.0 {source="Orphanet:268337/attributed", source="Orphanet:268337/ntbt", source="Orphanet:268337"} xref: Orphanet:268337 {source="MONDO:equivalentTo"} xref: UMLS:CN202416 {source="MONDO:equivalentTo"} @@ -333516,8 +346535,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12452/autoso id: MONDO:0017059 name: obsolete neural tube closure defect def: "OBSOLETE. A disease that has its basis in the disruption of neural tube closure." [MONDO:design_pattern] +subset: gard_rare {source="GARD:17268"} synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "neural tube closure disease" EXACT [MONDO:design_pattern] +xref: GARD:17268 {source="Orphanet:268357", source="MONDO:obsoleteEquivalent"} xref: Orphanet:268357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -333528,7 +346549,9 @@ is_obsolete: true [Term] id: MONDO:0017060 name: open iniencephaly +subset: gard_rare {source="GARD:20949"} subset: ordo_clinical_subtype {source="Orphanet:268363"} +xref: GARD:20949 {source="Orphanet:268363"} xref: ICD10CM:Q00.2 {source="Orphanet:268363/attributed", source="Orphanet:268363/ntbt", source="Orphanet:268363"} xref: Orphanet:268363 {source="MONDO:equivalentTo"} xref: SCTID:203928008 {source="MONDO:equivalentTo"} @@ -333538,7 +346561,9 @@ is_a: MONDO:0018968 {source="Orphanet:268363"} ! iniencephaly [Term] id: MONDO:0017061 name: closed iniencephaly +subset: gard_rare {source="GARD:20950"} subset: ordo_clinical_subtype {source="Orphanet:268366"} +xref: GARD:20950 {source="Orphanet:268366"} xref: ICD10CM:Q00.2 {source="Orphanet:268366", source="Orphanet:268366/attributed", source="Orphanet:268366/ntbt"} xref: Orphanet:268366 {source="MONDO:equivalentTo"} xref: SCTID:203927003 {source="MONDO:equivalentTo"} @@ -333548,7 +346573,9 @@ is_a: MONDO:0018968 {source="Orphanet:268366"} ! iniencephaly [Term] id: MONDO:0017062 name: spina bifida aperta +subset: gard_rare {source="GARD:20951"} subset: ordo_morphological_anomaly {source="Orphanet:268369"} +xref: GARD:20951 {source="Orphanet:268369"} xref: ICD10CM:Q05.0 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} xref: ICD10CM:Q05.1 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} xref: ICD10CM:Q05.2 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} @@ -333567,7 +346594,9 @@ is_a: MONDO:0019351 {source="Orphanet:268369"} ! isolated spina bifida [Term] id: MONDO:0017063 name: total spina bifida aperta +subset: gard_rare {source="GARD:20952"} subset: ordo_clinical_subtype {source="Orphanet:268377"} +xref: GARD:20952 {source="Orphanet:268377"} xref: Orphanet:268377 {source="MONDO:equivalentTo"} xref: UMLS:CN202422 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268377"} ! spina bifida aperta @@ -333575,7 +346604,9 @@ is_a: MONDO:0017062 {source="Orphanet:268377"} ! spina bifida aperta [Term] id: MONDO:0017064 name: thoracolumbosacral spina bifida aperta +subset: gard_rare {source="GARD:20953"} subset: ordo_clinical_subtype {source="Orphanet:268384"} +xref: GARD:20953 {source="Orphanet:268384"} xref: Orphanet:268384 {source="MONDO:equivalentTo"} xref: UMLS:CN202423 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268384"} ! spina bifida aperta @@ -333583,7 +346614,9 @@ is_a: MONDO:0017062 {source="Orphanet:268384"} ! spina bifida aperta [Term] id: MONDO:0017065 name: lumbosacral spina bifida aperta +subset: gard_rare {source="GARD:20954"} subset: ordo_clinical_subtype {source="Orphanet:268388"} +xref: GARD:20954 {source="Orphanet:268388"} xref: Orphanet:268388 {source="MONDO:equivalentTo"} xref: UMLS:CN202424 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268388"} ! spina bifida aperta @@ -333591,7 +346624,9 @@ is_a: MONDO:0017062 {source="Orphanet:268388"} ! spina bifida aperta [Term] id: MONDO:0017066 name: cervical spina bifida aperta +subset: gard_rare {source="GARD:20955"} subset: ordo_clinical_subtype {source="Orphanet:268392"} +xref: GARD:20955 {source="Orphanet:268392"} xref: ICD9:741.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:268392 {source="MONDO:equivalentTo"} xref: SCTID:425687007 {source="MONDO:equivalentTo"} @@ -333601,7 +346636,9 @@ is_a: MONDO:0017062 {source="Orphanet:268392"} ! spina bifida aperta [Term] id: MONDO:0017067 name: cervicothoracic spina bifida aperta +subset: gard_rare {source="GARD:20956"} subset: ordo_clinical_subtype {source="Orphanet:268397"} +xref: GARD:20956 {source="Orphanet:268397"} xref: Orphanet:268397 {source="MONDO:equivalentTo"} xref: UMLS:CN202426 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268397"} ! spina bifida aperta @@ -333609,7 +346646,9 @@ is_a: MONDO:0017062 {source="Orphanet:268397"} ! spina bifida aperta [Term] id: MONDO:0017068 name: upper thoracic spina bifida aperta +subset: gard_rare {source="GARD:20957"} subset: ordo_clinical_subtype {source="Orphanet:268740"} +xref: GARD:20957 {source="Orphanet:268740"} xref: Orphanet:268740 {source="MONDO:equivalentTo"} xref: UMLS:CN202428 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268740"} ! spina bifida aperta @@ -333619,6 +346658,7 @@ id: MONDO:0017069 name: spina bifida cystica def: "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." [NCIT:C101201] subset: disease_grouping +subset: gard_rare {source="GARD:20958"} subset: ordo_group_of_disorders {source="Orphanet:268744"} synonym: "meningomyelocele" EXACT [NCIT:C101201] synonym: "myelomeningocele" NARROW [NCIT:C101201] @@ -333626,6 +346666,7 @@ synonym: "open spina bifida" RELATED [MESH:D016137] synonym: "spina bifida aperta" RELATED [MESH:D016137] synonym: "spina bifida manifesta" RELATED [MESH:D016137] synonym: "spina bifida, open" RELATED [MESH:D016137] +xref: GARD:20958 {source="Orphanet:268744"} xref: ICD10CM:Q05.0 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} xref: ICD10CM:Q05.1 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} xref: ICD10CM:Q05.2 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} @@ -333648,42 +346689,54 @@ is_a: MONDO:0019351 {source="Orphanet:268744"} ! isolated spina bifida [Term] id: MONDO:0017070 name: total spina bifida cystica +subset: gard_rare {source="GARD:20959"} subset: ordo_clinical_subtype {source="Orphanet:268748"} +xref: GARD:20959 {source="Orphanet:268748"} xref: Orphanet:268748 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268748"} ! myelomeningocele [Term] id: MONDO:0017071 name: thoracolumbosacral spina bifida cystica +subset: gard_rare {source="GARD:20960"} subset: ordo_clinical_subtype {source="Orphanet:268752"} +xref: GARD:20960 {source="Orphanet:268752"} xref: Orphanet:268752 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268752"} ! myelomeningocele [Term] id: MONDO:0017072 name: lumbosacral spina bifida cystica +subset: gard_rare {source="GARD:20961"} subset: ordo_clinical_subtype {source="Orphanet:268758"} +xref: GARD:20961 {source="Orphanet:268758"} xref: Orphanet:268758 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268758"} ! myelomeningocele [Term] id: MONDO:0017073 name: cervical spina bifida cystica +subset: gard_rare {source="GARD:20962"} subset: ordo_clinical_subtype {source="Orphanet:268762"} +xref: GARD:20962 {source="Orphanet:268762"} xref: Orphanet:268762 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268762"} ! myelomeningocele [Term] id: MONDO:0017074 name: cervicothoracic spina bifida cystica +subset: gard_rare {source="GARD:20963"} subset: ordo_clinical_subtype {source="Orphanet:268766"} +xref: GARD:20963 {source="Orphanet:268766"} xref: Orphanet:268766 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268766"} ! myelomeningocele [Term] id: MONDO:0017075 name: upper thoracic spina bifida cystica +subset: gard_rare {source="GARD:20964"} subset: ordo_clinical_subtype {source="Orphanet:268770"} +xref: GARD:20964 {source="Orphanet:268770"} xref: Orphanet:268770 {source="MONDO:equivalentTo"} is_a: MONDO:0019773 {source="Orphanet:268770"} ! myelomeningocele @@ -333691,7 +346744,9 @@ is_a: MONDO:0019773 {source="Orphanet:268770"} ! myelomeningocele id: MONDO:0017076 name: posterior meningocele def: "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." [Orphanet:268810] +subset: gard_rare {source="GARD:20965"} subset: ordo_morphological_anomaly {source="Orphanet:268810"} +xref: GARD:20965 {source="Orphanet:268810"} xref: ICD10CM:Q05.1 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} xref: ICD10CM:Q05.2 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} xref: ICD10CM:Q05.3 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} @@ -333707,7 +346762,9 @@ is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica [Term] id: MONDO:0017077 name: myelocystocele +subset: gard_rare {source="GARD:20966"} subset: ordo_morphological_anomaly {source="Orphanet:268813"} +xref: GARD:20966 {source="Orphanet:268813"} xref: ICD10CM:Q05.0 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} xref: ICD10CM:Q05.1 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} xref: ICD10CM:Q05.2 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} @@ -333727,11 +346784,13 @@ id: MONDO:0017078 name: cephalocele def: "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." [NCIT:C84687] subset: disease_grouping +subset: gard_rare {source="GARD:20967"} subset: ordo_group_of_disorders {source="Orphanet:268817"} synonym: "cephalocele" EXACT [MONDO:ambiguous] synonym: "cephalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cranium bifidum" EXACT [NCIT:C84687] synonym: "encephalocele" EXACT [NCIT:C84687] +xref: GARD:20967 {source="Orphanet:268817"} xref: HP:0011815 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q01.0 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} xref: ICD10CM:Q01.1 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} @@ -333752,13 +346811,14 @@ property_value: IAO:0000589 "cephalocele (disease)" xsd:string id: MONDO:0017079 name: meningoencephalocele def: "A congenital abnormality in which the meninges protrude through a defect in the cranium." [NCIT:C124517] -subset: gard_rare +subset: gard_rare {source="GARD:20968"} subset: ordo_morphological_anomaly {source="Orphanet:268820"} synonym: "brain meninx cephalocele (disease)" EXACT [MONDO:patterns/location] synonym: "cephalocele (disease) of brain meninx" EXACT [] synonym: "cranial meningocele" RELATED [Orphanet:268820] synonym: "encephalomeningocele" RELATED [GARD:0003473] synonym: "meningoencephalocele" EXACT [] +xref: GARD:20968 {source="Orphanet:268820"} xref: ICD10CM:Q01.0 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"} xref: ICD10CM:Q01.1 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"} xref: ICD10CM:Q01.2 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"} @@ -333777,7 +346837,9 @@ intersection_of: disease_has_location UBERON:0003547 ! brain meninx [Term] id: MONDO:0017080 name: occipital encephalocele +subset: gard_rare {source="GARD:20969"} subset: ordo_clinical_subtype {source="Orphanet:268823"} +xref: GARD:20969 {source="Orphanet:268823"} xref: ICD10CM:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="Orphanet:268823/specific", source="Orphanet:268823/e"} xref: Orphanet:268823 {source="MONDO:equivalentTo"} xref: SCTID:42376006 {source="MONDO:equivalentTo"} @@ -333787,7 +346849,9 @@ is_a: MONDO:0016057 {source="Orphanet:268823"} ! isolated encephalocele [Term] id: MONDO:0017081 name: parietal encephalocele +subset: gard_rare {source="GARD:20970"} subset: ordo_clinical_subtype {source="Orphanet:268826"} +xref: GARD:20970 {source="Orphanet:268826"} xref: ICD10CM:Q01.8 {source="Orphanet:268826/attributed", source="Orphanet:268826/ntbt", source="Orphanet:268826"} xref: Orphanet:268826 {source="MONDO:equivalentTo"} xref: SCTID:253109005 {source="MONDO:equivalentTo"} @@ -333797,7 +346861,9 @@ is_a: MONDO:0016057 {source="Orphanet:268826"} ! isolated encephalocele [Term] id: MONDO:0017082 name: basal encephalocele +subset: gard_rare {source="GARD:20971"} subset: ordo_clinical_subtype {source="Orphanet:268829"} +xref: GARD:20971 {source="Orphanet:268829"} xref: ICD10CM:Q01.8 {source="Orphanet:268829/attributed", source="Orphanet:268829/ntbt", source="Orphanet:268829"} xref: Orphanet:268829 {source="MONDO:equivalentTo"} xref: UMLS:C4023176 {source="MONDO:equivalentTo"} @@ -333807,7 +346873,9 @@ is_a: MONDO:0016057 {source="Orphanet:268829"} ! isolated encephalocele id: MONDO:0017083 name: obsolete lipoma associated with neurospinal dysraphism subset: disease_grouping +subset: gard_rare {source="GARD:20972"} subset: ordo_group_of_disorders {source="Orphanet:268832"} +xref: GARD:20972 {source="MONDO:obsoleteEquivalent", source="Orphanet:268832"} xref: Orphanet:268832 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -333815,7 +346883,9 @@ is_obsolete: true id: MONDO:0017084 name: leptomyelolipoma def: "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." [Orphanet:268838] +subset: gard_rare {source="GARD:20973"} subset: ordo_morphological_anomaly {source="Orphanet:268838"} +xref: GARD:20973 {source="Orphanet:268838"} xref: Orphanet:268838 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="https://orcid.org/0000-0002-4142-7153"} ! neural tube defect is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -333826,7 +346896,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017085 name: obsolete malformation of the neurenteric canal, spinal cord and column subset: disease_grouping +subset: gard_rare {source="GARD:20974"} subset: ordo_group_of_disorders {source="Orphanet:268843"} +xref: GARD:20974 {source="MONDO:obsoleteEquivalent", source="Orphanet:268843"} xref: Orphanet:268843 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -333834,12 +346906,14 @@ is_obsolete: true id: MONDO:0017086 name: primary tethered cord syndrome def: "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." [Orphanet:268861] +subset: gard_rare {source="GARD:4018"} subset: ordo_morphological_anomaly {source="Orphanet:268861"} synonym: "occult spinal dysraphism" RELATED [GARD:0004018] synonym: "occult spinal dysraphism sequence" RELATED [GARD:0004018] synonym: "primary tethered spinal cord syndrome" EXACT [Orphanet:268861] synonym: "segmental vertebral anomalies" RELATED [GARD:0004018] synonym: "tethered cord syndrome" RELATED [GARD:0004018] +xref: GARD:4018 {source="Orphanet:268861"} xref: Orphanet:268861 {source="MONDO:equivalentTo"} xref: SCTID:70534000 {source="MONDO:equivalentTo"} xref: UMLS:CN202446 {source="MONDO:equivalentTo"} @@ -333848,7 +346922,9 @@ is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.co [Term] id: MONDO:0017087 name: neurenteric cyst +subset: gard_rare {source="GARD:20975"} subset: ordo_morphological_anomaly {source="Orphanet:268865"} +xref: GARD:20975 {source="Orphanet:268865"} xref: Orphanet:268865 {source="MONDO:equivalentTo"} xref: UMLS:C0027806 {source="Orphanet:268865", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268865/e"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -333856,7 +346932,9 @@ is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.co [Term] id: MONDO:0017088 name: isolated amyelia +subset: gard_rare {source="GARD:20976"} subset: ordo_morphological_anomaly {source="Orphanet:268868"} +xref: GARD:20976 {source="Orphanet:268868"} xref: ICD10CM:Q06.0 {source="Orphanet:268868/specific", source="Orphanet:268868", source="Orphanet:268868/e"} xref: Orphanet:268868 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -333865,10 +346943,12 @@ is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.co id: MONDO:0017089 name: isolated megalencephaly def: "A megalencephaly (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:20977"} subset: ordo_clinical_subtype {source="Orphanet:268920"} synonym: "isolated macrencephaly" EXACT [Orphanet:268920] synonym: "isolated megalencephaly (disease)" EXACT [] synonym: "nonsyndromic megalencephaly (disease)" EXACT [MONDO:patterns/isolated] +xref: GARD:20977 {source="Orphanet:268920"} xref: ICD10CM:Q04.5 {source="Orphanet:268920/attributed", source="Orphanet:268920/ntbt", source="Orphanet:268920"} xref: Orphanet:268920 {source="MONDO:equivalentTo"} xref: UMLS:C0221355 {source="Orphanet:268920", source="MONDO:notFoundInDiseaseSubset"} @@ -333881,7 +346961,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare [Term] id: MONDO:0017090 name: obsolete midline cerebral malformation +subset: gard_rare {source="GARD:20978"} synonym: "Midline brain malformation" EXACT [Orphanet:268926] +xref: GARD:20978 {source="MONDO:obsoleteEquivalent", source="Orphanet:268926"} xref: ICD10CM:Q04.8 {source="Orphanet:268926", source="Orphanet:268926/attributed", source="Orphanet:268926/ntbt"} xref: Orphanet:268926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -333894,7 +346976,9 @@ is_obsolete: true id: MONDO:0017091 name: bilateral polymicrogyria def: "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." [Orphanet:268940] +subset: gard_rare {source="GARD:17269"} subset: ordo_morphological_anomaly {source="Orphanet:268940"} +xref: GARD:17269 {source="Orphanet:268940"} xref: ICD10CM:Q04.3 {source="Orphanet:268940", source="Orphanet:268940/attributed", source="Orphanet:268940/ntbt"} xref: Orphanet:268940 {source="MONDO:equivalentTo"} xref: SCTID:765757003 {source="MONDO:equivalentTo"} @@ -333904,7 +346988,9 @@ is_a: MONDO:0000087 {source="Orphanet:268940"} ! polymicrogyria id: MONDO:0017092 name: unilateral polymicrogyria def: "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." [Orphanet:268943] +subset: gard_rare {source="GARD:20980"} subset: ordo_morphological_anomaly {source="Orphanet:268943"} +xref: GARD:20980 {source="Orphanet:268943"} xref: ICD10CM:Q04.3 {source="Orphanet:268943", source="Orphanet:268943/attributed", source="Orphanet:268943/ntbt"} xref: Orphanet:268943 {source="MONDO:equivalentTo"} xref: SCTID:715905006 {source="MONDO:equivalentTo"} @@ -333915,8 +347001,10 @@ is_a: MONDO:0000087 {source="Orphanet:268943"} ! polymicrogyria id: MONDO:0017093 name: unilateral focal polymicrogyria def: "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." [Orphanet:268947] +subset: gard_rare {source="GARD:20981"} subset: ordo_clinical_subtype {source="Orphanet:268947"} xref: DOID:0080919 {source="MONDO:equivalentTo"} +xref: GARD:20981 {source="Orphanet:268947"} xref: ICD10CM:Q04.3 {source="Orphanet:268947/attributed", source="Orphanet:268947/ntbt", source="Orphanet:268947"} xref: Orphanet:268947 {source="MONDO:equivalentTo"} is_a: MONDO:0017092 {source="Orphanet:268947"} ! unilateral polymicrogyria @@ -333926,9 +347014,11 @@ id: MONDO:0017094 name: cerebral cortical dysplasia def: "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." [MESH:D054220] subset: disease_grouping +subset: gard_rare {source="GARD:20982"} subset: ordo_group_of_disorders {source="Orphanet:268950"} synonym: "brain cortical dysplasia" EXACT [Orphanet:268950] synonym: "cortical dysplasia" EXACT [NCIT:C42088] +xref: GARD:20982 {source="Orphanet:268950"} xref: ICD10CM:Q04.8 {source="Orphanet:268950/attributed", source="Orphanet:268950/ntbt", source="Orphanet:268950"} xref: MESH:D054220 {source="MONDO:equivalentTo"} xref: NCIT:C42088 {source="MONDO:equivalentTo"} @@ -333943,8 +347033,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017095 name: isolated focal cortical dysplasia type I +subset: gard_rare {source="GARD:20983"} subset: ordo_clinical_subtype {source="Orphanet:268961"} synonym: "FCD type I" EXACT [Orphanet:268961] +xref: GARD:20983 {source="Orphanet:268961"} xref: ICD10CM:Q04.8 {source="Orphanet:268961/attributed", source="Orphanet:268961/ntbt", source="Orphanet:268961"} xref: Orphanet:268961 {source="MONDO:equivalentTo"} xref: UMLS:CN202452 {source="MONDO:equivalentTo"} @@ -333953,8 +347045,10 @@ is_a: MONDO:0019009 {source="Orphanet:268961"} ! isolated focal cortical dysplas [Term] id: MONDO:0017096 name: isolated focal cortical dysplasia type Ia +subset: gard_rare {source="GARD:20984"} subset: ordo_histopathological_subtype {source="Orphanet:268973"} synonym: "FCD type Ia" EXACT [Orphanet:268973] +xref: GARD:20984 {source="Orphanet:268973"} xref: ICD10CM:Q04.8 {source="Orphanet:268973", source="Orphanet:268973/attributed", source="Orphanet:268973/ntbt"} xref: Orphanet:268973 {source="MONDO:equivalentTo"} xref: UMLS:CN202453 {source="MONDO:equivalentTo"} @@ -333963,8 +347057,10 @@ is_a: MONDO:0017095 {source="Orphanet:268973"} ! isolated focal cortical dysplas [Term] id: MONDO:0017097 name: isolated focal cortical dysplasia type Ib +subset: gard_rare {source="GARD:20985"} subset: ordo_histopathological_subtype {source="Orphanet:268980"} synonym: "FCD type IB" EXACT [Orphanet:268980] +xref: GARD:20985 {source="Orphanet:268980"} xref: ICD10CM:Q04.8 {source="Orphanet:268980/attributed", source="Orphanet:268980/ntbt", source="Orphanet:268980"} xref: Orphanet:268980 {source="MONDO:equivalentTo"} xref: UMLS:CN202454 {source="MONDO:equivalentTo"} @@ -333973,8 +347069,10 @@ is_a: MONDO:0017095 {source="Orphanet:268980"} ! isolated focal cortical dysplas [Term] id: MONDO:0017098 name: isolated focal cortical dysplasia type Ic +subset: gard_rare {source="GARD:20986"} subset: ordo_histopathological_subtype {source="Orphanet:268987"} synonym: "FCD type Ic" EXACT [Orphanet:268987] +xref: GARD:20986 {source="Orphanet:268987"} xref: ICD10CM:Q04.8 {source="Orphanet:268987", source="Orphanet:268987/attributed", source="Orphanet:268987/ntbt"} xref: Orphanet:268987 {source="MONDO:equivalentTo"} xref: UMLS:CN202455 {source="MONDO:equivalentTo"} @@ -333990,7 +347088,9 @@ replaced_by: MONDO:0001347 id: MONDO:0017100 name: neutropenia-monocytopenia-deafness syndrome def: "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." [Orphanet:2690] +subset: gard_rare {source="GARD:3982"} subset: ordo_disease {source="Orphanet:2690"} +xref: GARD:3982 {source="Orphanet:2690"} xref: ICD10CM:D82.8 {source="Orphanet:2690/attributed", source="Orphanet:2690/ntbt", source="Orphanet:2690"} xref: Orphanet:2690 {source="MONDO:equivalentTo"} xref: UMLS:CN202458 {source="MONDO:equivalentTo"} @@ -333999,8 +347099,10 @@ is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.co [Term] id: MONDO:0017101 name: isolated focal cortical dysplasia type IIa +subset: gard_rare {source="GARD:17270"} subset: ordo_histopathological_subtype {source="Orphanet:269001"} synonym: "FCD type IIa" EXACT [Orphanet:269001] +xref: GARD:17270 {source="Orphanet:269001"} xref: ICD10CM:Q04.8 {source="Orphanet:269001/attributed", source="Orphanet:269001/ntbt", source="Orphanet:269001"} xref: Orphanet:269001 {source="MONDO:equivalentTo"} is_a: MONDO:0011818 {source="Orphanet:269001"} ! isolated focal cortical dysplasia type II @@ -334009,8 +347111,10 @@ property_value: confidence "0.8749999999999998" xsd:double [Term] id: MONDO:0017102 name: isolated focal cortical dysplasia type IIb +subset: gard_rare {source="GARD:17271"} subset: ordo_histopathological_subtype {source="Orphanet:269008"} synonym: "FCD type IIb" EXACT [Orphanet:269008] +xref: GARD:17271 {source="Orphanet:269008"} xref: ICD10CM:Q04.8 {source="Orphanet:269008/attributed", source="Orphanet:269008/ntbt", source="Orphanet:269008"} xref: Orphanet:269008 {source="MONDO:equivalentTo"} xref: UMLS:CN202460 {source="MONDO:equivalentTo"} @@ -334021,7 +347125,9 @@ property_value: confidence "0.8749999999999998" xsd:double id: MONDO:0017103 name: encephaloclastic disorder subset: disease_grouping +subset: gard_rare {source="GARD:20987"} subset: ordo_group_of_disorders {source="Orphanet:269190"} +xref: GARD:20987 {source="Orphanet:269190"} xref: Orphanet:269190 {source="MONDO:equivalentTo"} xref: UMLS:CN227080 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -334031,6 +347137,8 @@ relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", sourc [Term] id: MONDO:0017104 name: obsolete central nervous system cystic malformation +subset: gard_rare {source="GARD:20988"} +xref: GARD:20988 {source="MONDO:obsoleteEquivalent", source="Orphanet:269194"} xref: Orphanet:269194 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -334042,7 +347150,9 @@ is_obsolete: true id: MONDO:0017105 name: glioependymal/ependymal cyst def: "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." [Orphanet:269197] +subset: gard_rare {source="GARD:20989"} subset: ordo_morphological_anomaly {source="Orphanet:269197"} +xref: GARD:20989 {source="Orphanet:269197"} xref: Orphanet:269197 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -334064,7 +347174,9 @@ property_value: IAO:0000589 "retrocerebellar cyst (disease)" xsd:string [Term] id: MONDO:0017107 name: isolated cerebellar vermis agenesis +subset: gard_rare {source="GARD:20990"} subset: ordo_morphological_anomaly {source="Orphanet:269203"} +xref: GARD:20990 {source="Orphanet:269203"} xref: ICD10CM:Q04.3 {source="Orphanet:269203/ntbt", source="Orphanet:269203"} xref: Orphanet:269203 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation @@ -334075,7 +347187,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017108 name: isolated total cerebellar vermis agenesis +subset: gard_rare {source="GARD:20991"} subset: ordo_clinical_subtype {source="Orphanet:269206"} +xref: GARD:20991 {source="Orphanet:269206"} xref: ICD10CM:Q04.3 {source="Orphanet:269206/ntbt", source="Orphanet:269206"} xref: Orphanet:269206 {source="MONDO:equivalentTo"} is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agenesis @@ -334083,7 +347197,9 @@ is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agen [Term] id: MONDO:0017109 name: isolated partial cerebellar vermis agenesis +subset: gard_rare {source="GARD:20992"} subset: ordo_clinical_subtype {source="Orphanet:269209"} +xref: GARD:20992 {source="Orphanet:269209"} xref: ICD10CM:Q04.3 {source="Orphanet:269209", source="Orphanet:269209/ntbt"} xref: Orphanet:269209 {source="MONDO:equivalentTo"} is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agenesis @@ -334091,7 +347207,9 @@ is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agen [Term] id: MONDO:0017110 name: isolated Dandy-Walker malformation with hydrocephalus +subset: gard_rare {source="GARD:20993"} subset: ordo_clinical_subtype {source="Orphanet:269212"} +xref: GARD:20993 {source="Orphanet:269212"} xref: ICD10CM:Q03.1 {source="Orphanet:269212", source="Orphanet:269212/attributed", source="Orphanet:269212/ntbt"} xref: Orphanet:269212 {source="MONDO:equivalentTo"} is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome @@ -334099,7 +347217,9 @@ is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome [Term] id: MONDO:0017111 name: isolated Dandy-Walker malformation without hydrocephalus +subset: gard_rare {source="GARD:20994"} subset: ordo_clinical_subtype {source="Orphanet:269215"} +xref: GARD:20994 {source="Orphanet:269215"} xref: ICD10CM:Q03.1 {source="Orphanet:269215", source="Orphanet:269215/attributed", source="Orphanet:269215/ntbt"} xref: Orphanet:269215 {source="MONDO:equivalentTo"} is_a: MONDO:0009072 {source="Orphanet:269215"} ! Dandy-Walker syndrome @@ -334108,7 +347228,9 @@ is_a: MONDO:0009072 {source="Orphanet:269215"} ! Dandy-Walker syndrome id: MONDO:0017112 name: isolated unilateral hemispheric cerebellar hypoplasia def: "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." [Orphanet:269218] +subset: gard_rare {source="GARD:20995"} subset: ordo_morphological_anomaly {source="Orphanet:269218"} +xref: GARD:20995 {source="Orphanet:269218"} xref: ICD10CM:Q04.3 {source="Orphanet:269218", source="Orphanet:269218/ntbt"} xref: Orphanet:269218 {source="MONDO:equivalentTo"} xref: SCTID:766934006 {source="MONDO:equivalentTo"} @@ -334121,7 +347243,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017113 name: isolated bilateral hemispheric cerebellar hypoplasia def: "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." [Orphanet:269221] +subset: gard_rare {source="GARD:20996"} subset: ordo_morphological_anomaly {source="Orphanet:269221"} +xref: GARD:20996 {source="Orphanet:269221"} xref: ICD10CM:Q04.3 {source="Orphanet:269221/ntbt", source="Orphanet:269221"} xref: Orphanet:269221 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation @@ -334132,7 +347256,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017114 name: obsolete global cerebellar malformation +subset: gard_rare {source="GARD:20997"} synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224] +xref: GARD:20997 {source="Orphanet:269224", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="Orphanet:269224/ntbt"} xref: Orphanet:269224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -334150,8 +347276,10 @@ replaced_by: MONDO:0000110 [Term] id: MONDO:0017116 name: congenital communicating hydrocephalus +subset: gard_rare {source="GARD:20998"} subset: ordo_clinical_subtype {source="Orphanet:269505"} synonym: "congenital non-obstructive hydrocephalus" EXACT [Orphanet:269505] +xref: GARD:20998 {source="Orphanet:269505"} xref: ICD10CM:Q03.8 {source="Orphanet:269505", source="Orphanet:269505/attributed", source="Orphanet:269505/ntbt"} xref: Orphanet:269505 {source="MONDO:equivalentTo"} is_a: MONDO:0016349 {source="Orphanet:269505"} ! congenital hydrocephalus @@ -334161,8 +347289,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017117 name: congenital non-communicating hydrocephalus +subset: gard_rare {source="GARD:17272"} subset: ordo_clinical_subtype {source="Orphanet:269510"} synonym: "congenital obstructive hydrocephalus" EXACT [Orphanet:269510] +xref: GARD:17272 {source="Orphanet:269510"} xref: ICD10CM:Q03.1 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} xref: ICD10CM:Q03.2 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} xref: ICD10CM:Q03.8 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} @@ -334176,7 +347306,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017118 name: obsolete syndrome with a cerebellar malformation as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:20999"} subset: ordo_group_of_disorders {source="Orphanet:269523"} +xref: GARD:20999 {source="Orphanet:269523", source="MONDO:obsoleteEquivalent"} xref: Orphanet:269523 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202468 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -334189,7 +347321,9 @@ consider: MONDO:0002254 id: MONDO:0017119 name: obsolete syndrome with microcephaly as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21000"} subset: ordo_group_of_disorders {source="Orphanet:269528"} +xref: GARD:21000 {source="MONDO:obsoleteEquivalent", source="Orphanet:269528"} xref: Orphanet:269528 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334201,7 +347335,9 @@ consider: MONDO:0002254 id: MONDO:0017120 name: obsolete other syndrome with a central nervous system malformation as major feature subset: disease_grouping +subset: gard_rare {source="GARD:21001"} subset: ordo_group_of_disorders {source="Orphanet:269531"} +xref: GARD:21001 {source="Orphanet:269531", source="MONDO:obsoleteEquivalent"} xref: Orphanet:269531 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202470 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334212,7 +347348,9 @@ is_obsolete: true id: MONDO:0017121 name: obsolete syndrome with a Dandy-Walker malformation as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21002"} subset: ordo_group_of_disorders {source="Orphanet:269546"} +xref: GARD:21002 {source="MONDO:obsoleteEquivalent", source="Orphanet:269546"} xref: Orphanet:269546 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202471 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334224,7 +347362,9 @@ consider: MONDO:0002254 id: MONDO:0017122 name: obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21010"} subset: ordo_group_of_disorders {source="Orphanet:269573"} +xref: GARD:21010 {source="MONDO:obsoleteEquivalent", source="Orphanet:269573"} xref: Orphanet:269573 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202475 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334237,6 +347377,7 @@ id: MONDO:0017123 name: arthrogryposis-renal dysfunction-cholestasis syndrome def: "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." [Orphanet:2697] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163|https://orcid.org/0000-0003-4830-7530) +subset: gard_rare {source="GARD:794"} subset: ordo_malformation_syndrome {source="Orphanet:2697"} synonym: "ARC syndrome" EXACT [MONDO:0000444, Orphanet:2697] synonym: "arthrogryposis - renal dysfunction - cholestasis" RELATED [GARD:0000794] @@ -334246,6 +347387,7 @@ synonym: "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXAC synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:0050763] synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [DOID:0050763] xref: DOID:0050763 {source="MONDO:equivalentTo"} +xref: GARD:794 {source="Orphanet:2697"} xref: ICD10CM:Q89.7 {source="Orphanet:2697/attributed", source="Orphanet:2697/ntbt", source="Orphanet:2697"} xref: MESH:C535382 {source="Orphanet:2697", source="MONDO:equivalentTo", source="Orphanet:2697/e"} xref: OMIMPS:208085 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -334263,7 +347405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017124 name: noma def: "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." [Orphanet:2700] -subset: gard_rare {source="GARD:0004001"} +subset: gard_rare {source="GARD:4001"} subset: ordo_disease {source="Orphanet:2700"} synonym: "cancrum oris" EXACT [DOID:9672, ICD9CM:528.1, Orphanet:2700] synonym: "gangrenous stomatitis" EXACT [DOID:9672] @@ -334273,6 +347415,7 @@ synonym: "oro-facial gangrene" RELATED [GARD:0004001] synonym: "oro-facial noma" RELATED [GARD:0004001] xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"} xref: EFO:1001063 {source="MONDO:equivalentTo"} +xref: GARD:4001 {source="Orphanet:2700"} xref: ICD10CM:A69.0 {source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"} xref: ICD9:528.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9672"} xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="Orphanet:2700/e"} @@ -334301,7 +347444,6 @@ replaced_by: MONDO:0010261 [Term] id: MONDO:0017126 name: oculo-skeletal-renal syndrome -subset: gard_rare {source="GARD:0004028"} subset: ordo_malformation_syndrome {source="Orphanet:2716"} synonym: "oculo skeletal renal syndrome" RELATED [GARD:0004028] xref: Orphanet:2716 {source="MONDO:equivalentObsolete"} @@ -334313,12 +347455,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4028/oculo-s id: MONDO:0017127 name: obsolete inherited soft tissue tumor def: "OBSOLETE. An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21011"} synonym: "genetic mesenchymal cell neoplasm" EXACT [MONDO:patterns/genetic] synonym: "genetic mesenchymal tumor" EXACT [Orphanet:271832] synonym: "genetic mesenchymal tumour" EXACT OMO:0003005 [] synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832] synonym: "genetic soft tissue tumour" RELATED OMO:0003005 [] synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary] +xref: GARD:21011 {source="MONDO:obsoleteEquivalent", source="Orphanet:271832"} xref: Orphanet:271832 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202526 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -334330,8 +347474,10 @@ is_obsolete: true [Term] id: MONDO:0017128 name: obsolete inherited digestive tract tumor +subset: gard_rare {source="GARD:21012"} synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835] synonym: "genetic digestive tract tumour" RELATED OMO:0003005 [] +xref: GARD:21012 {source="Orphanet:271835", source="MONDO:obsoleteEquivalent"} xref: Orphanet:271835 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202527 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -334344,11 +347490,13 @@ is_obsolete: true id: MONDO:0017129 name: obsolete inherited cardiac tumor def: "OBSOLETE. An instance of heart cancer that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:21013"} synonym: "genetic cardiac tumor" RELATED [Orphanet:271841] synonym: "genetic cardiac tumour" RELATED OMO:0003005 [] synonym: "genetic heart tumor" EXACT [Orphanet:271841] synonym: "genetic heart tumour" EXACT OMO:0003005 [] synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary] +xref: GARD:21013 {source="MONDO:obsoleteEquivalent", source="Orphanet:271841"} xref: Orphanet:271841 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202528 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -334362,14 +347510,18 @@ is_obsolete: true id: MONDO:0017130 name: obsolete genetic urogenital tumor subset: disease_grouping +subset: gard_rare {source="GARD:21014"} subset: ordo_group_of_disorders {source="Orphanet:271844"} +xref: GARD:21014 {source="MONDO:obsoleteEquivalent", source="Orphanet:271844"} xref: Orphanet:271844 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0017131 name: obsolete hereditary cardiac anomaly +subset: gard_rare {source="GARD:21016"} synonym: "genetic cardiac anomaly" EXACT [Orphanet:271853] +xref: GARD:21016 {source="MONDO:obsoleteEquivalent", source="Orphanet:271853"} xref: Orphanet:271853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -334379,9 +347531,11 @@ is_obsolete: true [Term] id: MONDO:0017132 name: obsolete hereditary ATTR amyloidosis +subset: gard_rare {source="GARD:21017"} synonym: "familial transthyretin-related amyloidosis" EXACT [Orphanet:271861] synonym: "familial TTR-related amyloidosis" EXACT [Orphanet:271861] synonym: "hereditary ATTR amyloidosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:21017 {source="MONDO:obsoleteEquivalent", source="Orphanet:271861"} xref: Orphanet:271861 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227096 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -334402,8 +347556,10 @@ consider: MONDO:0000001 id: MONDO:0017134 name: odonto-onycho dysplasia-alopecia syndrome def: "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." [Orphanet:2722] +subset: gard_rare {source="GARD:4051"} subset: ordo_malformation_syndrome {source="Orphanet:2722"} synonym: "odonto onycho dysplasia with alopecia" RELATED [GARD:0004051] +xref: GARD:4051 {source="Orphanet:2722"} xref: Orphanet:2722 {source="MONDO:equivalentTo"} xref: UMLS:CN202534 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:2722"} ! ectodermal dysplasia syndrome @@ -334412,8 +347568,10 @@ is_a: MONDO:0019287 {source="Orphanet:2722"} ! ectodermal dysplasia syndrome id: MONDO:0017135 name: olivopontocerebellar atrophy-deafness syndrome def: "Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." [Orphanet:2732] +subset: gard_rare {source="GARD:4070"} subset: ordo_malformation_syndrome {source="Orphanet:2732"} synonym: "olivopontocerebellar atrophy deafness" RELATED [GARD:0004070] +xref: GARD:4070 {source="Orphanet:2732"} xref: Orphanet:2732 {source="MONDO:equivalentTo"} xref: UMLS:CN202542 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -334422,8 +347580,10 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0017136 name: omodysplasia def: "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." [Orphanet:2733] +subset: gard_rare {source="GARD:16608"} subset: ordo_malformation_syndrome {source="Orphanet:2733"} xref: DOID:0060288 {source="MONDO:equivalentTo"} +xref: GARD:16608 {source="Orphanet:2733"} xref: ICD10CM:Q78.8 {source="Orphanet:2733", source="Orphanet:2733/attributed", source="Orphanet:2733/ntbt"} xref: MESH:C537746 {source="DOID:0060288"} xref: MESH:C567664 {source="DOID:0060288"} @@ -334444,7 +347604,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017137 name: onchocerciasis def: "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." [Orphanet:2737] -subset: gard_rare {source="GARD:0007252"} +subset: gard_rare {source="GARD:7252"} subset: ordo_disease {source="Orphanet:2737"} synonym: "infection by Onchocerca volvulus" EXACT [] synonym: "infection caused by Onchocerca volvulus" RELATED [] @@ -334456,6 +347616,7 @@ synonym: "Robles' disease" RELATED [GARD:0007252] synonym: "volvulosis" EXACT [DOID:11678] xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"} xref: EFO:0007402 {source="MONDO:equivalentTo"} +xref: GARD:7252 {source="Orphanet:2737"} xref: ICD10CM:B73 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737"} xref: ICD9:125.3 {source="DOID:11678"} xref: MedDRA:10030314 {source="Orphanet:2737/e", source="Orphanet:2737"} @@ -334483,7 +347644,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7252/onchoce id: MONDO:0017138 name: Opitz G/BBB syndrome def: "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." [Orphanet:2745] -subset: gard_rare {source="GARD:0000193"} +subset: gard_rare {source="GARD:193"} subset: ordo_inheritance_inconsistent subset: ordo_malformation_syndrome {source="Orphanet:2745"} synonym: "BBB syndrome" RELATED [GARD:0000193] @@ -334506,6 +347667,7 @@ synonym: "Opitz-GBBB syndrome" EXACT [MONDO:0000449] synonym: "telecanthus with associated abnormalities" RELATED [GARD:0000193] xref: DOID:0050780 {source="MONDO:equivalentObsolete"} xref: DOID:0080697 {source="MONDO:equivalentTo"} +xref: GARD:193 {source="Orphanet:2745"} xref: ICD10CM:Q87.8 {source="Orphanet:2745", source="Orphanet:2745/attributed", source="Orphanet:2745/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C125487 {source="MONDO:equivalentTo"} @@ -334527,9 +347689,11 @@ id: MONDO:0017139 name: oromandibular-limb hypogenesis syndrome def: "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." [Orphanet:2749] subset: disease_grouping +subset: gard_rare {source="GARD:4116"} subset: ordo_group_of_disorders {source="Orphanet:2749"} synonym: "oro-mandibular-limb hypogenesis syndrome" RELATED [GARD:0004116] synonym: "Oroacral syndrome" EXACT [Orphanet:2749] +xref: GARD:4116 {source="Orphanet:2749"} xref: ICD10CM:Q87.5 {source="Orphanet:2749/attributed", source="Orphanet:2749/ntbt", source="Orphanet:2749"} xref: Orphanet:2749 {source="MONDO:equivalentTo"} xref: UMLS:CN202556 {source="MONDO:equivalentTo"} @@ -334541,11 +347705,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017140 name: L1 syndrome def: "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." [Orphanet:275543] +subset: gard_rare {source="GARD:12524"} subset: ordo_malformation_syndrome {source="Orphanet:275543"} synonym: "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome" EXACT [Orphanet:275543] synonym: "CRASH syndrome" EXACT [Orphanet:275543] synonym: "L1 syndrome" EXACT CLINGEN_PREFERRED [] synonym: "L1CAM syndrome" EXACT [Orphanet:275543] +xref: GARD:12524 {source="Orphanet:275543"} xref: ICD10CM:Q04.8 {source="Orphanet:275543", source="Orphanet:275543/attributed", source="Orphanet:275543/ntbt"} xref: Orphanet:275543 {source="MONDO:equivalentTo"} xref: UMLS:CN118845 {source="MONDO:equivalentTo"} @@ -334557,6 +347723,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017141 name: obsolete hemorrhagic disorder due to a constitutional thrombocytopenia subset: disease_grouping +subset: gard_rare {source="GARD:21019"} subset: ordo_group_of_disorders {source="Orphanet:275729"} synonym: "rare bleeding disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] synonym: "rare bleeding disorder due to a quantitative platelet defect" EXACT [Orphanet:275729] @@ -334564,6 +347731,7 @@ synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [Orp synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [Orphanet:275729] synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [Orphanet:275729] +xref: GARD:21019 {source="Orphanet:275729", source="MONDO:obsoleteEquivalent"} xref: Orphanet:275729 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227098 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334576,6 +347744,7 @@ consider: MONDO:0002243 id: MONDO:0017142 name: obsolete hemorrhagic disorder due to a qualitative platelet defect subset: disease_grouping +subset: gard_rare {source="GARD:21020"} subset: ordo_group_of_disorders {source="Orphanet:275736"} synonym: "rare bleeding disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736] synonym: "rare bleeding disorder due to a qualitative platelet defect" EXACT [Orphanet:275736] @@ -334583,6 +347752,7 @@ synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [Orphane synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [Orphanet:275736] synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736] synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [Orphanet:275736] +xref: GARD:21020 {source="MONDO:obsoleteEquivalent", source="Orphanet:275736"} xref: ICD10CM:D69.8 {source="Orphanet:275736/attributed", source="Orphanet:275736/ntbt", source="Orphanet:275736"} xref: Orphanet:275736 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227099 {source="MONDO:obsoleteEquivalent"} @@ -334595,9 +347765,11 @@ is_obsolete: true id: MONDO:0017143 name: obsolete genetic infertility def: "OBSOLETE. Genetic infertility." [] +subset: gard_rare {source="GARD:21021"} subset: ordo_group_of_disorders {source="Orphanet:275742"} synonym: "genetic infertility" EXACT [MONDO:patterns/genetic] synonym: "hereditary infertility disorder" EXACT [MONDO:patterns/hereditary] +xref: GARD:21021 {source="MONDO:obsoleteEquivalent", source="Orphanet:275742"} xref: Orphanet:275742 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -334607,6 +347779,8 @@ consider: MONDO:0005047 [Term] id: MONDO:0017144 name: obsolete alpha-thalassemia and related diseases +subset: gard_rare {source="GARD:21022"} +xref: GARD:21022 {source="MONDO:obsoleteEquivalent", source="Orphanet:275745"} xref: ICD10CM:D56.0 {source="Orphanet:275745/attributed", source="Orphanet:275745/ntbt", source="Orphanet:275745"} xref: Orphanet:275745 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202570 {source="MONDO:obsoleteEquivalent"} @@ -334619,7 +347793,9 @@ is_obsolete: true id: MONDO:0017145 name: beta-thalassemia and related diseases subset: disease_grouping +subset: gard_rare {source="GARD:21023"} subset: ordo_group_of_disorders {source="Orphanet:275749"} +xref: GARD:21023 {source="Orphanet:275749"} xref: ICD10CM:D56.1 {source="Orphanet:275749/attributed", source="Orphanet:275749/ntbt", source="Orphanet:275749"} xref: Orphanet:275749 {source="MONDO:equivalentTo"} xref: UMLS:CN202571 {source="MONDO:equivalentTo"} @@ -334630,6 +347806,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare [Term] id: MONDO:0017146 name: obsolete sickle cell disease and related diseases +subset: gard_rare {source="GARD:21024"} +xref: GARD:21024 {source="MONDO:obsoleteEquivalent", source="Orphanet:275752"} xref: ICD10CM:D57.0 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} xref: ICD10CM:D57.1 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} xref: ICD10CM:D57.2 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} @@ -334647,9 +347825,11 @@ is_obsolete: true id: MONDO:0017147 name: idiopathic pulmonary arterial hypertension def: "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." [Orphanet:275766] +subset: gard_rare {source="GARD:21025"} subset: ordo_etiological_subtype {source="Orphanet:275766"} synonym: "IPAH" EXACT ABBREVIATION [Orphanet:275766] synonym: "primary pulmonary arterial hypertension" EXACT [Orphanet:275766] +xref: GARD:21025 {source="Orphanet:275766"} xref: ICD10CM:I27.0 {source="Orphanet:275766", source="Orphanet:275766/attributed", source="Orphanet:275766/ntbt"} xref: ICD9:416.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10065151 {source="Orphanet:275766", source="Orphanet:275766/e"} @@ -334665,11 +347845,13 @@ relationship: has_characteristic MONDO:0700005 {source="https://orcid.org/0000-0 id: MONDO:0017148 name: heritable pulmonary arterial hypertension def: "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal." [Orphanet:275777] +subset: gard_rare {source="GARD:11914"} subset: ordo_etiological_subtype {source="Orphanet:275777"} synonym: "familial pulmonary arterial hypertension" EXACT [Orphanet:275777] synonym: "FPAH" EXACT ABBREVIATION [Orphanet:275777] synonym: "hereditary pulmonary arterial hypertension" EXACT [MONDO:patterns/hereditary, Orphanet:275777] synonym: "HpaH" EXACT [Orphanet:275777] +xref: GARD:11914 {source="Orphanet:275777"} xref: ICD10CM:I27.0 {source="Orphanet:275777", source="Orphanet:275777/attributed", source="Orphanet:275777/ntbt"} xref: NCIT:C121945 {source="MONDO:equivalentTo"} xref: OMIMPS:178600 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -334687,9 +347869,11 @@ id: MONDO:0017149 name: drug- or toxin-induced pulmonary arterial hypertension def: "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." [Orphanet:275786] subset: disease_grouping +subset: gard_rare {source="GARD:21026"} subset: ordo_group_of_disorders {source="Orphanet:275786"} synonym: "drug- or toxin-induced PAH" EXACT [Orphanet:275786] xref: EFO:0009192 {source="MONDO:equivalentTo"} +xref: GARD:21026 {source="Orphanet:275786"} xref: ICD10CM:I27.2 {source="Orphanet:275786", source="Orphanet:275786/ntbt"} xref: Orphanet:275786 {source="MONDO:equivalentTo"} xref: UMLS:C0340544 {source="MONDO:equivalentTo", source="Orphanet:275786", source="Orphanet:275786/e"} @@ -334700,10 +347884,12 @@ id: MONDO:0017150 name: obsolete pulmonary arterial hypertension associated with another disease def: "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." [Orphanet:275791] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21027"} subset: ordo_group_of_disorders {source="Orphanet:275791"} synonym: "PAH associated with another disease" EXACT [Orphanet:275791] synonym: "secondary PAH" EXACT [Orphanet:275791] xref: EFO:0009193 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21027 {source="Orphanet:275791", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275791", source="Orphanet:275791/ntbt"} xref: Orphanet:275791 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202577 {source="MONDO:obsoleteEquivalent"} @@ -334717,9 +347903,11 @@ id: MONDO:0017151 name: obsolete pulmonary arterial hypertension associated with connective tissue disease def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." [Orphanet:275798] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21028"} subset: ordo_group_of_disorders {source="Orphanet:275798"} synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798] xref: EFO:0009196 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21028 {source="MONDO:obsoleteEquivalent", source="Orphanet:275798"} xref: ICD10CM:I27.2 {source="Orphanet:275798", source="Orphanet:275798/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275798 {source="MONDO:obsoleteEquivalent"} @@ -334736,9 +347924,11 @@ id: MONDO:0017152 name: obsolete pulmonary arterial hypertension associated with congenital heart disease def: "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." [Orphanet:275803] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21029"} subset: ordo_group_of_disorders {source="Orphanet:275803"} synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803] xref: EFO:0009054 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21029 {source="MONDO:obsoleteEquivalent", source="Orphanet:275803"} xref: ICD10CM:I27.2 {source="Orphanet:275803/ntbt", source="Orphanet:275803"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275803 {source="MONDO:obsoleteEquivalent"} @@ -334755,9 +347945,11 @@ id: MONDO:0017153 name: obsolete pulmonary arterial hypertension associated with HIV infection def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." [Orphanet:275808] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21030"} subset: ordo_group_of_disorders {source="Orphanet:275808"} synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808] xref: EFO:0009194 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21030 {source="Orphanet:275808", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275808/ntbt", source="Orphanet:275808"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275808 {source="MONDO:obsoleteEquivalent"} @@ -334773,11 +347965,13 @@ id: MONDO:0017154 name: obsolete pulmonary arterial hypertension associated with portal hypertension def: "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." [Orphanet:275813] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21031"} subset: ordo_group_of_disorders {source="Orphanet:275813"} synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813] synonym: "POPH" EXACT ABBREVIATION [Orphanet:275813] synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813] xref: EFO:0009197 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21031 {source="MONDO:obsoleteEquivalent", source="Orphanet:275813"} xref: ICD10CM:I27.2 {source="Orphanet:275813/ntbt", source="Orphanet:275813"} xref: Orphanet:275813 {source="MONDO:obsoleteEquivalent"} xref: SCTID:445237003 {source="MONDO:obsoleteEquivalent"} @@ -334792,9 +347986,11 @@ id: MONDO:0017155 name: obsolete pulmonary arterial hypertension associated with schistosomiasis def: "OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." [Orphanet:275823] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21032"} subset: ordo_group_of_disorders {source="Orphanet:275823"} synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823] xref: EFO:0009198 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21032 {source="MONDO:obsoleteEquivalent", source="Orphanet:275823"} xref: ICD10CM:I27.2 {source="Orphanet:275823", source="Orphanet:275823/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275823 {source="MONDO:obsoleteEquivalent"} @@ -334810,9 +348006,11 @@ id: MONDO:0017156 name: obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia def: "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." [Orphanet:275828] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21033"} subset: ordo_group_of_disorders {source="Orphanet:275828"} synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828] xref: EFO:0009195 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21033 {source="Orphanet:275828", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275828", source="Orphanet:275828/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275828 {source="MONDO:obsoleteEquivalent"} @@ -334827,10 +348025,12 @@ consider: MONDO:0015924 id: MONDO:0017157 name: pulmonary hypertension owing to lung disease and/or hypoxia subset: disease_grouping +subset: gard_rare {source="GARD:21034"} subset: ordo_group_of_disorders {source="Orphanet:275837"} synonym: "PH due to lung disease and/or hypoxia" EXACT [Orphanet:275837] synonym: "PH owing to lung disease and/or hypoxia" EXACT [Orphanet:275837] synonym: "pulmonary hypertension due to lung disease and/or hypoxia" EXACT [Orphanet:275837] +xref: GARD:21034 {source="Orphanet:275837"} xref: ICD10CM:I27.2 {source="Orphanet:275837/ntbt", source="Orphanet:275837"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275837 {source="MONDO:equivalentTo"} @@ -334844,8 +348044,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019096"} ! rare id: MONDO:0017158 name: obsolete pulmonary hypertension with unclear multifactorial mechanism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' +subset: gard_rare {source="GARD:21035"} subset: ordo_group_of_disorders {source="Orphanet:275844"} synonym: "PH with unclear multifactorial mechanism" EXACT [Orphanet:275844] +xref: GARD:21035 {source="MONDO:obsoleteEquivalent", source="Orphanet:275844"} xref: Orphanet:275844 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -334856,7 +348058,9 @@ consider: MONDO:0015924 id: MONDO:0017159 name: obsolete syndrome with pulmonary hypertension as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21036"} subset: ordo_group_of_disorders {source="Orphanet:275853"} +xref: GARD:21036 {source="MONDO:obsoleteEquivalent", source="Orphanet:275853"} xref: Orphanet:275853 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202581 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -334868,8 +348072,10 @@ is_obsolete: true id: MONDO:0017160 name: behavioral variant of frontotemporal dementia def: "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." [Orphanet:275864] +subset: gard_rare {source="GARD:7392"} subset: ordo_disease {source="Orphanet:275864"} synonym: "bv-FTD" EXACT [Orphanet:275864] +xref: GARD:7392 {source="Orphanet:275864"} xref: ICD10CM:G31.0 {source="Orphanet:275864", source="Orphanet:275864/attributed", source="Orphanet:275864/ntbt"} xref: Orphanet:275864 {source="MONDO:equivalentTo"} xref: SCTID:716994006 {source="MONDO:equivalentTo"} @@ -334883,12 +348089,14 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0017161 name: frontotemporal dementia with motor neuron disease def: "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." [Orphanet:275872] +subset: gard_rare {source="GARD:17273"} subset: ordo_disease {source="Orphanet:275872"} synonym: "frontotemporal dementia with ALS" EXACT [PMID:21222600] synonym: "frontotemporal dementia with amyotrophic lateral sclerosis" EXACT [Orphanet:275872] synonym: "FTD-ALS" EXACT [Orphanet:275872] synonym: "FTD-MND" EXACT [Orphanet:275872] synonym: "FTDALS" EXACT ABBREVIATION [MONDO:0000712] +xref: GARD:17273 {source="Orphanet:275872"} xref: MESH:C566288 {source="MONDO:equivalentTo"} xref: OMIMPS:105550 {source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="MONDO:equivalentTo"} @@ -334907,10 +348115,12 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105550"} ! inheri id: MONDO:0017162 name: imperforate oropharynx-costo vetebral anomalies syndrome def: "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." [Orphanet:2759] +subset: gard_rare {source="GARD:2989"} subset: ordo_malformation_syndrome {source="Orphanet:2759"} synonym: "imperforate oropharynx-costo vetebral anomalies" RELATED [GARD:0002989] synonym: "imperforate oropharynx-costovertebral anomalies syndrome" RELATED [Orphanet:2759] synonym: "Seghers syndrome" EXACT [Orphanet:2759] +xref: GARD:2989 {source="Orphanet:2759"} xref: Orphanet:2759 {source="MONDO:equivalentTo"} xref: UMLS:CN202584 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -334923,8 +348133,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017163 name: obsolete hemolytic disease due to fetomaternal alloimmunization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:21037"} subset: ordo_group_of_disorders {source="Orphanet:275938"} synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938] +xref: GARD:21037 {source="Orphanet:275938", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:P55.0 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.1 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.8 {source="Orphanet:275938", source="Orphanet:275938/btnt"} @@ -334939,9 +348151,11 @@ consider: MONDO:0003664 [Term] id: MONDO:0017164 name: hemolytic disease of the newborn with Kell alloimmunization +subset: gard_rare {source="GARD:21038"} subset: ordo_disease {source="Orphanet:275944"} synonym: "anti-K HDN" EXACT [Orphanet:275944] synonym: "maternal anti-Kell alloimmunization" EXACT [Orphanet:275944] +xref: GARD:21038 {source="Orphanet:275944"} xref: ICD10CM:P55.8 {source="Orphanet:275944", source="Orphanet:275944/ntbt"} xref: Orphanet:275944 {source="MONDO:equivalentTo"} xref: UMLS:CN202586 {source="MONDO:equivalentTo"} @@ -334951,7 +348165,9 @@ is_a: MONDO:0003664 {source="Orphanet:275944"} ! hemolytic anemia id: MONDO:0017165 name: bile acid CoA ligase deficiency and defective amidation def: "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." [Orphanet:276066] +subset: gard_rare {source="GARD:21041"} subset: ordo_disease {source="Orphanet:276066"} +xref: GARD:21041 {source="Orphanet:276066"} xref: Orphanet:276066 {source="MONDO:equivalentTo"} xref: SCTID:717047007 {source="MONDO:equivalentTo"} xref: UMLS:C4274079 {source="MONDO:equivalentTo"} @@ -334961,7 +348177,9 @@ is_a: MONDO:0019218 {source="Orphanet:276066"} ! inborn disorder of bile acid sy id: MONDO:0017166 name: obsolete rare tumor of salivary glands subset: disease_grouping +subset: gard_rare {source="GARD:21042"} subset: ordo_group_of_disorders {source="Orphanet:276142"} +xref: GARD:21042 {source="Orphanet:276142", source="MONDO:obsoleteEquivalent"} xref: Orphanet:276142 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0036095 {source="Orphanet:276142", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000231 OMO:0001000 @@ -334972,9 +348190,11 @@ is_obsolete: true [Term] id: MONDO:0017167 name: malignant epithelial tumor of salivary glands +subset: gard_rare {source="GARD:21043"} subset: ordo_disease {source="Orphanet:276145"} synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145] synonym: "malignant epithelial tumour of the salivary glands" RELATED OMO:0003005 [] +xref: GARD:21043 {source="Orphanet:276145"} xref: ICD10CM:C07 {source="Orphanet:276145", source="Orphanet:276145/btnt"} xref: ICD10CM:C08.0 {source="Orphanet:276145", source="Orphanet:276145/btnt"} xref: ICD10CM:C08.1 {source="Orphanet:276145", source="Orphanet:276145/btnt"} @@ -334986,7 +348206,9 @@ is_a: MONDO:0021223 {source="MONDO:0017166-obsoleted"} ! digestive system neopla [Term] id: MONDO:0017168 name: benign epithelial tumor of salivary glands +subset: gard_rare {source="GARD:17274"} subset: ordo_disease {source="Orphanet:276148"} +xref: GARD:17274 {source="Orphanet:276148"} xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:276148", source="Orphanet:276148/btnt"} xref: ICD10CM:D11.7 {source="Orphanet:276148", source="Orphanet:276148/btnt"} xref: Orphanet:276148 {source="MONDO:equivalentTo"} @@ -334999,6 +348221,7 @@ id: MONDO:0017169 name: multiple endocrine neoplasia def: "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." [Orphanet:276161] subset: disease_grouping +subset: gard_rare {source="GARD:21044"} subset: ordo_group_of_disorders {source="Orphanet:276161"} synonym: "men" EXACT [NCIT:C6432, Orphanet:276161] synonym: "men syndrome" EXACT [NCIT:C6432] @@ -335008,6 +348231,7 @@ synonym: "multiple endocrine neoplasia" EXACT [NCIT:C6432] synonym: "multiple endocrine neoplasia syndrome" EXACT [NCIT:C6432] synonym: "multiple endocrine neoplasia syndrome(s)" EXACT [NCIT:C6432] xref: DOID:3125 {source="MONDO:equivalentTo"} +xref: GARD:21044 {source="Orphanet:276161"} xref: ICD10CM:D44.8 {source="Orphanet:276161/ntbt", source="Orphanet:276161/inclusion", source="Orphanet:276161"} xref: ICD9:258.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:8360/1 {source="NCIT:C6432"} @@ -335030,7 +348254,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017170 name: idiopathic recurrent stupor def: "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." [Orphanet:276174] +subset: gard_rare {source="GARD:21045"} subset: ordo_disease {source="Orphanet:276174"} +xref: GARD:21045 {source="Orphanet:276174"} xref: Orphanet:276174 {source="MONDO:equivalentTo"} xref: SCTID:763739002 {source="MONDO:equivalentTo"} xref: UMLS:CN202595 {source="MONDO:equivalentTo"} @@ -335041,11 +348267,13 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0017171 name: mucopolysaccharidosis type 6, rapidly progressing +subset: gard_rare {source="GARD:21046"} subset: ordo_clinical_subtype {source="Orphanet:276212"} synonym: "arylsulfatase B deficiency, rapidly progressing" EXACT [Orphanet:276212] synonym: "MPS6, rapidly progressing" EXACT [Orphanet:276212] synonym: "MPSVI, rapidly progressing" EXACT [Orphanet:276212] synonym: "mucopolysaccharidosis type VI, rapidly progressing" EXACT [Orphanet:276212] +xref: GARD:21046 {source="Orphanet:276212"} xref: ICD10CM:E76.2 {source="Orphanet:276212/attributed", source="Orphanet:276212/ntbt", source="Orphanet:276212"} xref: Orphanet:276212 {source="MONDO:equivalentTo"} xref: UMLS:CN202600 {source="MONDO:equivalentTo"} @@ -335054,11 +348282,13 @@ is_a: MONDO:0009661 {source="Orphanet:276212"} ! mucopolysaccharidosis type 6 [Term] id: MONDO:0017172 name: mucopolysaccharidosis type 6, slowly progressing +subset: gard_rare {source="GARD:21047"} subset: ordo_clinical_subtype {source="Orphanet:276223"} synonym: "arylsulfatase B deficiency, slowly progressing" EXACT [Orphanet:276223] synonym: "MPS6, slowly progressing" EXACT [Orphanet:276223] synonym: "MPSVI, slowly progressing" EXACT [Orphanet:276223] synonym: "mucopolysaccharidosis type VI, slowly progressing" EXACT [Orphanet:276223] +xref: GARD:21047 {source="Orphanet:276223"} xref: ICD10CM:E76.2 {source="Orphanet:276223/attributed", source="Orphanet:276223/ntbt", source="Orphanet:276223"} xref: Orphanet:276223 {source="MONDO:equivalentTo"} xref: UMLS:CN202601 {source="MONDO:equivalentTo"} @@ -335068,9 +348298,11 @@ is_a: MONDO:0009661 {source="Orphanet:276223"} ! mucopolysaccharidosis type 6 id: MONDO:0017173 name: obsolete non-syndromic male infertility due to sperm motility disorder def: "OBSOLETE. Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." [Orphanet:276234] +subset: gard_rare {source="GARD:17277"} synonym: "isolated male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234] synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] +xref: GARD:17277 {source="MONDO:obsoleteEquivalent", source="Orphanet:276234"} xref: ICD10CM:N46 {source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"} xref: Orphanet:276234 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202602 {source="MONDO:obsoleteEquivalent"} @@ -335083,10 +348315,12 @@ is_obsolete: true id: MONDO:0017174 name: Machado-Joseph disease type 1 def: "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." [Orphanet:276238] +subset: gard_rare {source="GARD:21048"} subset: ordo_clinical_subtype {source="Orphanet:276238"} synonym: "azorean disease, type i" EXACT [] synonym: "SCA3, Joseph type" EXACT [Orphanet:276238] synonym: "spinocerebellar ataxia type 3, Joseph type" EXACT [Orphanet:276238] +xref: GARD:21048 {source="Orphanet:276238"} xref: ICD10CM:G11.8 {source="Orphanet:276238", source="Orphanet:276238/attributed", source="Orphanet:276238/ntbt"} xref: Orphanet:276238 {source="MONDO:equivalentTo"} xref: SCTID:91953003 {source="MONDO:equivalentTo"} @@ -335097,10 +348331,12 @@ is_a: MONDO:0007182 {source="Orphanet:276238"} ! Machado-Joseph disease id: MONDO:0017175 name: Machado-Joseph disease type 2 def: "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." [Orphanet:276241] +subset: gard_rare {source="GARD:21049"} subset: ordo_clinical_subtype {source="Orphanet:276241"} synonym: "azorean disease, type ii" EXACT [] synonym: "SCA3, Thomas type" EXACT [Orphanet:276241] synonym: "spinocerebellar ataxia, Thomas type" EXACT [Orphanet:276241] +xref: GARD:21049 {source="Orphanet:276241"} xref: ICD10CM:G11.8 {source="Orphanet:276241", source="Orphanet:276241/attributed", source="Orphanet:276241/ntbt"} xref: Orphanet:276241 {source="MONDO:equivalentTo"} xref: SCTID:91954009 {source="MONDO:equivalentTo"} @@ -335111,10 +348347,12 @@ is_a: MONDO:0007182 {source="Orphanet:276241"} ! Machado-Joseph disease id: MONDO:0017176 name: Machado-Joseph disease type 3 def: "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." [Orphanet:276244] +subset: gard_rare {source="GARD:21050"} subset: ordo_clinical_subtype {source="Orphanet:276244"} synonym: "azorean disease, type iii" EXACT [] synonym: "SCA3, Machado type" EXACT [Orphanet:276244] synonym: "spinocerebellar ataxia type 3, Machado type" EXACT [Orphanet:276244] +xref: GARD:21050 {source="Orphanet:276244"} xref: ICD10CM:G11.8 {source="Orphanet:276244", source="Orphanet:276244/attributed", source="Orphanet:276244/ntbt"} xref: Orphanet:276244 {source="MONDO:equivalentTo"} xref: SCTID:91955005 {source="MONDO:equivalentTo"} @@ -335125,8 +348363,10 @@ is_a: MONDO:0007182 {source="Orphanet:276244"} ! Machado-Joseph disease id: MONDO:0017177 name: hemihyperplasia-multiple lipomatosis syndrome def: "A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." [https://orcid.org/0000-0001-5208-3432, Orphanet:276280] +subset: gard_rare {source="GARD:21051"} subset: ordo_malformation_syndrome {source="Orphanet:276280"} synonym: "HHML" EXACT ABBREVIATION [Orphanet:276280] +xref: GARD:21051 {source="Orphanet:276280"} xref: ICD10CM:Q87.3 {source="Orphanet:276280", source="Orphanet:276280/attributed", source="Orphanet:276280/ntbt"} xref: Orphanet:276280 {source="MONDO:equivalentTo"} xref: UMLS:CN202613 {source="MONDO:equivalentTo"} @@ -335143,6 +348383,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017178 name: osteochondritis dissecans def: "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." [Orphanet:2764] +subset: gard_rare {source="GARD:12703"} subset: ordo_disease {source="Orphanet:251262", source="Orphanet:2764"} synonym: "familial osteochondritis dissecans" NARROW [Orphanet:251262] synonym: "Koenig disease" EXACT [Orphanet:2764] @@ -335157,6 +348398,7 @@ synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthrit synonym: "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" RELATED [OMIM:165800] synonym: "SSOAOD" RELATED ABBREVIATION [OMIM:165800] xref: DOID:84 {source="MONDO:equivalentTo"} +xref: GARD:12703 {source="Orphanet:2764"} xref: HP:0010886 {source="MONDO:otherHierarchy"} xref: ICD10CM:M93.2 {source="Orphanet:251262/attributed", source="Orphanet:251262/ntbt", source="Orphanet:251262", source="Orphanet:2764", source="Orphanet:2764/e", source="DOID:84"} xref: ICD10CM:M93.9 {source="DOID:84"} @@ -335198,9 +348440,11 @@ is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic en [Term] id: MONDO:0017180 name: 10q22.3q23.3 microduplication syndrome +subset: gard_rare {source="GARD:21052"} subset: ordo_malformation_syndrome {source="Orphanet:276422"} synonym: "dup(10)(q22.3q23.3)" EXACT [Orphanet:276422] synonym: "trisomy 10q22.3q23.3" EXACT [Orphanet:276422] +xref: GARD:21052 {source="Orphanet:276422"} xref: Orphanet:276422 {source="MONDO:equivalentTo"} xref: UMLS:CN202619 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -335213,9 +348457,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017181 name: hypnic headache def: "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." [MESH:D051270] +subset: gard_rare {source="GARD:10796"} subset: ordo_disease {source="Orphanet:276429"} synonym: "hypnic headache" EXACT [MONDO:ambiguous] synonym: "hypnic headache (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:10796 {source="Orphanet:276429"} xref: HP:0012459 {source="MONDO:otherHierarchy"} xref: ICD10CM:G44.8 {source="Orphanet:276429/ntbt", source="Orphanet:276429"} xref: ICD9:339.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -335232,6 +348478,7 @@ id: MONDO:0017182 name: familial hyperinsulinism def: "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21053"} subset: ordo_group_of_disorders {source="Orphanet:276525"} synonym: "congenital hyperinsulinism" EXACT [NCIT:C131425] synonym: "familial hyperinsulinemic hypoglycemia" EXACT [Orphanet:276525] @@ -335242,6 +348489,7 @@ synonym: "hyperinsulinemia of infancy" EXACT [NCIT:C131425] synonym: "hyperinsulinemic hypoglycemia" BROAD [NCIT:C131425] synonym: "neonatal hyperinsulinism" EXACT [NCIT:C131425] synonym: "nesidioblastosis" EXACT [NCIT:C131425] +xref: GARD:21053 {source="Orphanet:276525"} xref: ICD10CM:E16.1 {source="Orphanet:276525", source="Orphanet:276525/attributed", source="Orphanet:276525/ntbt"} xref: NCIT:C131425 {source="MONDO:equivalentTo"} xref: Orphanet:276525 {source="MONDO:equivalentTo"} @@ -335257,8 +348505,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare id: MONDO:0017183 name: hyperinsulinism due to UCP2 deficiency def: "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." [Orphanet:276556] +subset: gard_rare {source="GARD:21054"} subset: ordo_disease {source="Orphanet:276556"} synonym: "hyperinsulinemic hypoglycemia due to UCP2 deficiency" EXACT [Orphanet:276556] +xref: GARD:21054 {source="Orphanet:276556"} xref: ICD10CM:E16.1 {source="Orphanet:276556", source="Orphanet:276556/attributed", source="Orphanet:276556/ntbt"} xref: Orphanet:276556 {source="MONDO:equivalentTo"} xref: SCTID:721834007 {source="MONDO:equivalentTo"} @@ -335269,8 +348519,10 @@ is_a: MONDO:0015624 {source="Orphanet:276556"} ! diazoxide-sensitive diffuse hyp id: MONDO:0017184 name: autosomal dominant hyperinsulinism due to SUR1 deficiency def: "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." [Orphanet:276575] +subset: gard_rare {source="GARD:17283"} subset: ordo_disease {source="Orphanet:276575"} synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:276575] +xref: GARD:17283 {source="Orphanet:276575"} xref: ICD10CM:E16.1 {source="Orphanet:276575/attributed", source="Orphanet:276575/ntbt", source="Orphanet:276575"} xref: Orphanet:276575 {source="MONDO:equivalentTo"} xref: SCTID:717046003 {source="MONDO:equivalentTo"} @@ -335284,9 +348536,11 @@ property_value: confidence "7.2621082621082635" xsd:double id: MONDO:0017185 name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency def: "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." [Orphanet:276580] +subset: gard_rare {source="GARD:17284"} subset: ordo_disease {source="Orphanet:276580"} synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:276580] synonym: "dominant KATP hyperinsulinism due to Kir6.2 deficiency" EXACT [Orphanet:276580] +xref: GARD:17284 {source="Orphanet:276580"} xref: ICD10CM:E16.1 {source="Orphanet:276580/attributed", source="Orphanet:276580/ntbt", source="Orphanet:276580"} xref: Orphanet:276580 {source="MONDO:equivalentTo"} xref: SCTID:717045004 {source="MONDO:equivalentTo"} @@ -335301,8 +348555,10 @@ id: MONDO:0017186 name: diazoxide-resistant hyperinsulinism def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." [Orphanet:276585] subset: disease_grouping +subset: gard_rare {source="GARD:21055"} subset: ordo_group_of_disorders {source="Orphanet:276585"} synonym: "diazoxide-resistant hyperinsulinemic hypoglycemia" EXACT [Orphanet:276585] +xref: GARD:21055 {source="Orphanet:276585"} xref: ICD10CM:E16.1 {source="Orphanet:276585", source="Orphanet:276585/attributed", source="Orphanet:276585/ntbt"} xref: Orphanet:276585 {source="MONDO:equivalentTo"} is_a: MONDO:0019010 {source="Orphanet:276585"} ! congenital isolated hyperinsulinism @@ -335310,8 +348566,10 @@ is_a: MONDO:0019010 {source="Orphanet:276585"} ! congenital isolated hyperinsuli [Term] id: MONDO:0017187 name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency +subset: gard_rare {source="GARD:17285"} subset: ordo_disease {source="Orphanet:276598"} synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276598] +xref: GARD:17285 {source="Orphanet:276598"} xref: ICD10CM:E16.1 {source="Orphanet:276598/attributed", source="Orphanet:276598/ntbt", source="Orphanet:276598"} xref: Orphanet:276598 {source="MONDO:equivalentTo"} is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1 @@ -335321,8 +348579,10 @@ property_value: confidence "7.2621082621082635" xsd:double [Term] id: MONDO:0017188 name: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency +subset: gard_rare {source="GARD:17286"} subset: ordo_disease {source="Orphanet:276603"} synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276603] +xref: GARD:17286 {source="Orphanet:276603"} xref: ICD10CM:E16.1 {source="Orphanet:276603/attributed", source="Orphanet:276603/ntbt", source="Orphanet:276603"} xref: Orphanet:276603 {source="MONDO:equivalentTo"} is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2 @@ -335333,8 +348593,10 @@ property_value: confidence "14.30020048538567" xsd:double id: MONDO:0017189 name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" [Orphanet:276608] +subset: gard_rare {source="GARD:21056"} subset: ordo_disease {source="Orphanet:276608"} synonym: "NI-PHH" EXACT [Orphanet:276608] +xref: GARD:21056 {source="Orphanet:276608"} xref: ICD10CM:E16.1 {source="Orphanet:276608/attributed", source="Orphanet:276608/ntbt", source="Orphanet:276608"} xref: Orphanet:276608 {source="MONDO:equivalentTo"} xref: SCTID:717044000 {source="MONDO:equivalentTo"} @@ -335345,7 +348607,9 @@ is_a: MONDO:0017182 {source="Orphanet:276608"} ! familial hyperinsulinism id: MONDO:0017190 name: sporadic pheochromocytoma/secreting paraganglioma def: "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." [Orphanet:276621] +subset: gard_rare {source="GARD:7385"} subset: ordo_disease {source="Orphanet:276621"} +xref: GARD:7385 {source="Orphanet:276621"} xref: ICD10CM:C74.1 {source="Orphanet:276621", source="Orphanet:276621/ntbt"} xref: ICD10CM:D35.0 {source="Orphanet:276621", source="Orphanet:276621/ntbt"} xref: Orphanet:276621 {source="MONDO:equivalentTo"} @@ -335375,7 +348639,9 @@ is_a: MONDO:0017190 {source="Orphanet:276627"} ! sporadic pheochromocytoma/secre [Term] id: MONDO:0017193 name: symptomatic form of Coffin-Lowry syndrome in female carriers +subset: gard_rare {source="GARD:21057"} subset: ordo_malformation_syndrome {source="Orphanet:276630"} +xref: GARD:21057 {source="Orphanet:276630"} xref: ICD10CM:Q87.0 {source="Orphanet:276630/attributed", source="Orphanet:276630/ntbt", source="Orphanet:276630"} xref: Orphanet:276630 {source="MONDO:equivalentTo"} xref: UMLS:CN202633 {source="MONDO:equivalentTo"} @@ -335387,7 +348653,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0017194 name: Blount disease def: "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." [Orphanet:2768] -subset: gard_rare {source="GARD:0000916"} +subset: gard_rare {source="GARD:916"} subset: ordo_malformation_syndrome {source="Orphanet:2768"} synonym: "Blount disease" EXACT [DOID:14798] synonym: "Blount's disease" EXACT [MONDO:0002020] @@ -335400,6 +348666,7 @@ synonym: "Osteochondrosis deformans tibiae, familial infantile type" RELATED [GA synonym: "tibia vara" RELATED [GARD:0000916] synonym: "tibia vara Blount" EXACT [Orphanet:2768] xref: DOID:14798 {source="MONDO:equivalentTo"} +xref: GARD:916 {source="Orphanet:2768"} xref: ICD10CM:M92.5 {source="Orphanet:2768", source="Orphanet:2768/attributed", source="Orphanet:2768/ntbt"} xref: ICD9:736.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072255 {source="Orphanet:2768", source="Orphanet:2768/e"} @@ -335417,10 +348684,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/916/blount-d id: MONDO:0017195 name: Bruck syndrome def: "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures." [Orphanet:2771] +subset: gard_rare {source="GARD:1029"} subset: ordo_malformation_syndrome {source="Orphanet:2771"} synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [DOID:0060231] synonym: "osteogenesis imperfecta-congenital joint contractures syndrome" EXACT [Orphanet:2771] xref: DOID:0060231 {source="MONDO:equivalentTo"} +xref: GARD:1029 {source="Orphanet:2771"} xref: ICD10CM:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/index", source="Orphanet:2771/ntbt"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063718 {source="Orphanet:2771", source="Orphanet:2771/e"} @@ -335438,11 +348707,12 @@ relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2771"} ! obsol id: MONDO:0017196 name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome def: "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." [Orphanet:2773] -subset: gard_rare +subset: gard_rare {source="GARD:587"} subset: ordo_malformation_syndrome {source="Orphanet:2773"} synonym: "Al Gazali Sabrinathan Nair syndrome" RELATED [GARD:0000587] synonym: "Al Gazali-Nair syndrome" EXACT [GARD:0000587, Orphanet:2773] synonym: "osteogenesis imperfecta retinopathy seizures intellectual deficit" RELATED [GARD:0000587] +xref: GARD:587 {source="Orphanet:2773"} xref: ICD10CM:Q87.8 {source="Orphanet:2773", source="Orphanet:2773/attributed", source="Orphanet:2773/ntbt"} xref: MESH:C535617 {source="MONDO:equivalentTo"} xref: Orphanet:2773 {source="GARD:0000587", source="MONDO:equivalentTo"} @@ -335461,11 +348731,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/587/al-gazal id: MONDO:0017197 name: osteopathia striata-pigmentary dermopathy-white forelock syndrome def: "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." [Orphanet:2779] +subset: gard_rare {source="GARD:5562"} subset: ordo_malformation_syndrome {source="Orphanet:2779"} synonym: "osteopathia striata associated with familial dermopathy and white forelock" RELATED [GARD:0005562] synonym: "osteopathia striata with pigmentary dermopathy including white forelock" RELATED [GARD:0005562] synonym: "Whyte Murphy syndrome" RELATED [GARD:0005562] synonym: "Whyte-Murphy syndrome" EXACT [Orphanet:2779] +xref: GARD:5562 {source="Orphanet:2779"} xref: ICD10CM:Q77.8 {source="Orphanet:2779", source="Orphanet:2779/attributed", source="Orphanet:2779/ntbt"} xref: MESH:C536054 {source="MONDO:equivalentTo"} xref: OMIM:311280 {source="Orphanet:2779", source="MONDO:obsolete", source="Orphanet:2779/e"} @@ -335481,6 +348753,7 @@ id: MONDO:0017198 name: osteopetrosis def: "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." [Orphanet:2781] subset: disease_grouping +subset: gard_rare {source="GARD:4155"} subset: ordo_group_of_disorders {source="Orphanet:2781"} synonym: "Albers-Schoenberg disease" RELATED [GARD:0004155] synonym: "Albers-Schonberg disease" EXACT [DOID:13533, GARD:0004155] @@ -335493,6 +348766,7 @@ synonym: "osteopetrosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteopetrosis and related disorders" RELATED [Orphanet:2781] synonym: "osteosclerosis fragilis" RELATED [GARD:0004155] xref: DOID:13533 {source="MONDO:equivalentTo"} +xref: GARD:4155 {source="Orphanet:2781"} xref: HP:0011002 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="Orphanet:2781/e", source="Orphanet:2781/specific", source="DOID:13533"} xref: ICD9:756.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13533"} @@ -335521,8 +348795,10 @@ property_value: IAO:0000589 "osteopetrosis (disease)" xsd:string id: MONDO:0017199 name: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome def: "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." [Orphanet:2787] +subset: gard_rare {source="GARD:18778"} subset: ordo_malformation_syndrome {source="Orphanet:2787"} synonym: "Heide syndrome" EXACT [Orphanet:2787] +xref: GARD:18778 {source="Orphanet:2787"} xref: Orphanet:2787 {source="MONDO:equivalentTo"} xref: SCTID:716189005 {source="MONDO:equivalentTo"} xref: UMLS:C4274786 {source="MONDO:equivalentTo"} @@ -335535,12 +348811,14 @@ relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2787"} ! obsol id: MONDO:0017200 name: polycystic ovaries-urethral sphincter dysfunction syndrome def: "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." [Orphanet:2795] +subset: gard_rare {source="GARD:2365"} subset: ordo_disease {source="Orphanet:2795"} synonym: "fowler Christmas Chapple syndrome" RELATED [GARD:0002365] synonym: "fowler's syndrome" RELATED [GARD:0002365] synonym: "fowler-Christmas-Chapple syndrome" EXACT [Orphanet:2795] synonym: "polycystic ovaries urethral sphincter dysfunction" RELATED [GARD:0002365] synonym: "voiding dysfunction and polycystic ovaries" RELATED [GARD:0002365] +xref: GARD:2365 {source="Orphanet:2795"} xref: MESH:C537271 {source="MONDO:equivalentTo"} xref: Orphanet:2795 {source="MONDO:equivalentTo"} xref: UMLS:C2931462 {source="Orphanet:2795", source="MONDO:equivalentTo"} @@ -335551,9 +348829,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare id: MONDO:0017201 name: Spasmus nutans def: "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." [Orphanet:279882] +subset: gard_rare {source="GARD:21058"} subset: ordo_clinical_syndrome {source="Orphanet:279882"} synonym: "Spasmus nutans" EXACT [MONDO:ambiguous] synonym: "Spasmus nutans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:21058 {source="Orphanet:279882"} xref: HP:0010533 {source="MONDO:otherHierarchy"} xref: ICD10CM:F98.4 {source="Orphanet:279882", source="Orphanet:279882/ntbt"} xref: MedDRA:10059593 {source="Orphanet:279882", source="Orphanet:279882/e"} @@ -335568,9 +348848,11 @@ property_value: IAO:0000589 "Spasmus nutans (disease)" xsd:string id: MONDO:0017202 name: acute endophthalmitis def: "Acute form of endophthalmitis." [MONDO:patterns/acute] +subset: gard_rare {source="GARD:21059"} subset: ordo_clinical_subtype {source="Orphanet:279888"} synonym: "endophthalmitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:11752 {source="MONDO:equivalentTo"} +xref: GARD:21059 {source="Orphanet:279888"} xref: ICD10CM:H44.0 {source="Orphanet:279888", source="Orphanet:279888/ntbt"} xref: ICD10CM:H44.1 {source="Orphanet:279888", source="Orphanet:279888/ntbt"} xref: ICD9:360.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11752"} @@ -335588,9 +348870,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0017203 name: chronic endophthalmitis def: "Chronic form of endophthalmitis." [MONDO:patterns/chronic] +subset: gard_rare {source="GARD:21060"} subset: ordo_clinical_subtype {source="Orphanet:279891"} synonym: "endophthalmitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10697 {source="MONDO:equivalentTo"} +xref: GARD:21060 {source="Orphanet:279891"} xref: ICD10CM:H44.0 {source="Orphanet:279891/ntbt", source="Orphanet:279891"} xref: ICD10CM:H44.1 {source="Orphanet:279891/ntbt", source="Orphanet:279891"} xref: ICD9:360.03 {source="DOID:10697", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -335607,7 +348891,9 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0017204 name: toxic maculopathy due to antimalarial drugs def: "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." [Orphanet:279894] +subset: gard_rare {source="GARD:21061"} subset: ordo_disease {source="Orphanet:279894"} +xref: GARD:21061 {source="Orphanet:279894"} xref: ICD10CM:H35.3 {source="Orphanet:279894", source="MONDO:relatedTo", source="Orphanet:279894/ntbt"} xref: ICD10CM:T37.2 {source="Orphanet:279894", source="Orphanet:279894/ntbt"} xref: Orphanet:279894 {source="MONDO:equivalentTo"} @@ -335620,8 +348906,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0017205 name: primary oculocerebral lymphoma def: "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." [Orphanet:279897] +subset: gard_rare {source="GARD:21062"} subset: ordo_disease {source="Orphanet:279897"} synonym: "primary oculocerebral non-Hodgkin lymphoma" EXACT [Orphanet:279897] +xref: GARD:21062 {source="Orphanet:279897"} xref: Orphanet:279897 {source="MONDO:equivalentTo"} is_a: MONDO:0017207 {source="Orphanet:279897"} ! primary organ-specific lymphoma is_a: MONDO:0021220 {source="MONDO:Redundant", source="Orphanet:279897"} ! eye neoplasm @@ -335631,7 +348919,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare id: MONDO:0017207 name: primary organ-specific lymphoma subset: disease_grouping +subset: gard_rare {source="GARD:21064"} subset: ordo_group_of_disorders {source="Orphanet:279911"} +xref: GARD:21064 {source="Orphanet:279911"} xref: NCIT:C7185 {source="MONDO:equivalentTo"} xref: Orphanet:279911 {source="MONDO:equivalentTo"} xref: UMLS:C1334465 {source="MONDO:equivalentTo"} @@ -335646,7 +348936,9 @@ replaced_by: MONDO:0006806 [Term] id: MONDO:0017209 name: infectious posterior uveitis +subset: gard_rare {source="GARD:21066"} subset: ordo_disease {source="Orphanet:279919"} +xref: GARD:21066 {source="Orphanet:279919"} xref: ICD10CM:H20.0 {source="Orphanet:279919/ntbt", source="Orphanet:279919"} xref: Orphanet:279919 {source="MONDO:equivalentTo"} is_a: MONDO:0001280 {source="MONDO:Redundant", source="Orphanet:279919"} ! choroiditis @@ -335659,11 +348951,13 @@ id: MONDO:0017210 name: infectious anterior uveitis def: "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." [MONDO:patterns/specific_inflammatory_disease_by_site] subset: clingen +subset: gard_rare {source="GARD:21067"} subset: ordo_disease {source="Orphanet:279922"} synonym: "infectious secondary iridocyclitis" EXACT [DOID:9389] synonym: "secondary infected iridocyclitis" EXACT [DOID:9389] synonym: "secondary iridocyclitis, infectious" EXACT [DOID:9389, ICD9CM:364.03] xref: DOID:9389 {source="MONDO:equivalentTo"} +xref: GARD:21067 {source="Orphanet:279922"} xref: ICD10CM:H20.0 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} xref: ICD10CM:H20.03 {source="DOID:9389"} xref: ICD10CM:H20.1 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} @@ -335683,7 +348977,9 @@ intersection_of: disease_has_inflammation_site UBERON:0011892 ! anterior uvea [Term] id: MONDO:0017211 name: infectious panuveitis +subset: gard_rare {source="GARD:21068"} subset: ordo_disease {source="Orphanet:279925"} +xref: GARD:21068 {source="Orphanet:279925"} xref: ICD10CM:H44.1 {source="Orphanet:279925/ntbt", source="Orphanet:279925"} xref: Orphanet:279925 {source="MONDO:equivalentTo"} is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:cjm"} ! infectious disease @@ -335693,7 +348989,9 @@ is_a: MONDO:0017255 {source="Orphanet:279925"} ! panuveitis id: MONDO:0017212 name: paraneoplastic uveitis comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:21069"} subset: ordo_disease {source="Orphanet:279928"} +xref: GARD:21069 {source="Orphanet:279928"} xref: Orphanet:279928 {source="MONDO:equivalentTo"} is_a: MONDO:0001280 {source="https://orcid.org/0000-0002-3458-4839"} ! choroiditis is_a: MONDO:0002661 {source="https://orcid.org/0000-0002-4142-7153"} ! uveal disorder @@ -335708,10 +349006,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017213 name: postorgasmic illness syndrome def: "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." [https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome] -subset: gard_rare {source="GARD:0010809"} +subset: gard_rare {source="GARD:10809"} subset: ordo_clinical_syndrome {source="Orphanet:279947"} synonym: "POIS" EXACT ABBREVIATION [Orphanet:279947] synonym: "post orgasmic sick syndrome" RELATED [GARD:0010809] +xref: GARD:10809 {source="Orphanet:279947"} xref: Orphanet:279947 {source="MONDO:equivalentTo"} xref: UMLS:CN202682 {source="MONDO:equivalentTo"} is_a: MONDO:0002118 {source="GARD:0010809"} ! urinary system disorder @@ -335725,10 +349024,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10809/postor id: MONDO:0017214 name: vitamin B12-responsive methylmalonic acidemia def: "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." [Orphanet:28] -subset: gard_rare {source="GARD:0012623"} +subset: gard_rare {source="GARD:12623"} subset: ordo_disease {source="Orphanet:28"} synonym: "adenosylcobalamin deficiency" EXACT [Orphanet:28] synonym: "vitamin B12-responsive methylmalonic aciduria" EXACT [Orphanet:28] +xref: GARD:12623 {source="Orphanet:28"} xref: ICD10CM:E71.1 {source="Orphanet:28/inclusion", source="Orphanet:28", source="Orphanet:28/ntbt"} xref: Orphanet:28 {source="MONDO:equivalentTo"} xref: SCTID:69614003 {source="MONDO:equivalentTo"} @@ -335744,10 +349044,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12623/vitami id: MONDO:0017215 name: calciphylaxis def: "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." [GARD:0005980] -subset: gard_rare {source="GARD:0005980"} +subset: gard_rare {source="GARD:5980"} subset: ordo_disease {source="Orphanet:280062"} synonym: "idiopathic calciphylaxis" RELATED [GARD:0005980] xref: DOID:4734 {source="MONDO:equivalentTo"} +xref: GARD:5980 {source="Orphanet:280062"} xref: ICD10CM:E83.5 {source="Orphanet:280062/ntbt", source="Orphanet:280062"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051714 {source="Orphanet:280062", source="Orphanet:280062/e"} @@ -335766,7 +349067,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5980/calciph id: MONDO:0017216 name: calciphylaxis cutis def: "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." [Orphanet:280065] +subset: gard_rare {source="GARD:21070"} subset: ordo_clinical_subtype {source="Orphanet:280065"} +xref: GARD:21070 {source="Orphanet:280065"} xref: ICD10CM:E83.5 {source="Orphanet:280065", source="Orphanet:280065/ntbt"} xref: Orphanet:280065 {source="MONDO:equivalentTo"} xref: SCTID:717043006 {source="MONDO:equivalentTo"} @@ -335778,7 +349081,9 @@ is_a: MONDO:0019293 {source="Orphanet:280065"} ! skin vascular disease id: MONDO:0017217 name: visceral calciphylaxis def: "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." [Orphanet:280068] +subset: gard_rare {source="GARD:21071"} subset: ordo_clinical_subtype {source="Orphanet:280068"} +xref: GARD:21071 {source="Orphanet:280068"} xref: ICD10CM:E83.5 {source="Orphanet:280068/ntbt", source="Orphanet:280068"} xref: Orphanet:280068 {source="MONDO:equivalentTo"} is_a: MONDO:0017215 {source="Orphanet:280068"} ! calciphylaxis @@ -335787,7 +349092,9 @@ is_a: MONDO:0017215 {source="Orphanet:280068"} ! calciphylaxis id: MONDO:0017218 name: obsolete septopreoptic holoprosencephaly def: "OBSOLETE. Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." [Orphanet:280195] +subset: gard_rare {source="GARD:17289"} synonym: "Septopreoptic HPE" EXACT [Orphanet:280195] +xref: GARD:17289 {source="MONDO:obsoleteEquivalent", source="Orphanet:280195"} xref: ICD10CM:Q04.2 {source="Orphanet:280195/attributed", source="Orphanet:280195/ntbt", source="Orphanet:280195"} xref: Orphanet:280195 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202699 {source="MONDO:obsoleteEquivalent"} @@ -335804,6 +349111,7 @@ is_obsolete: true id: MONDO:0017219 name: microform holoprosencephaly def: "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage." [Orphanet:280200] +subset: gard_rare {source="GARD:17290"} subset: ordo_malformation_syndrome {source="Orphanet:280200"} synonym: "HoloprosencC)phalie, minor form" EXACT [Orphanet:280200] synonym: "holoprosencephaly-like" EXACT [Orphanet:280200] @@ -335812,6 +349120,7 @@ synonym: "HPE, minor form" EXACT [Orphanet:280200] synonym: "HPE-L" EXACT [Orphanet:280200] synonym: "Microform HPE" EXACT [Orphanet:280200] xref: DOID:0111380 {source="MONDO:equivalentTo"} +xref: GARD:17290 {source="Orphanet:280200"} xref: ICD10CM:Q04.2 {source="Orphanet:280200/attributed", source="Orphanet:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"} xref: Orphanet:280200 {source="MONDO:equivalentTo"} xref: UMLS:CN202701 {source="MONDO:equivalentTo"} @@ -335825,9 +349134,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017220 name: laryngotracheoesophageal cleft type 0 def: "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." [Orphanet:280205] +subset: gard_rare {source="GARD:21072"} subset: ordo_clinical_subtype {source="Orphanet:280205"} synonym: "laryngo-tracheo-esophageal cleft type 0" EXACT [Orphanet:280205] synonym: "LTEC0" EXACT ABBREVIATION [Orphanet:280205] +xref: GARD:21072 {source="Orphanet:280205"} xref: ICD10CM:Q32.1 {source="Orphanet:280205/ntbt", source="Orphanet:280205"} xref: Orphanet:280205 {source="MONDO:equivalentTo"} xref: UMLS:CN202702 {source="MONDO:equivalentTo"} @@ -335837,10 +349148,12 @@ is_a: MONDO:0016060 {source="Orphanet:280205"} ! laryngotracheoesophageal cleft id: MONDO:0017221 name: Pelizaeus-Merzbacher disease, connatal form def: "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." [Orphanet:280210] +subset: gard_rare {source="GARD:17291"} subset: ordo_clinical_subtype {source="Orphanet:280210"} synonym: "connatal PMD" EXACT [Orphanet:280210] synonym: "Pelizaeus-Merzbacher disease type II" EXACT [Orphanet:280210] synonym: "severe PMD" EXACT [Orphanet:280210] +xref: GARD:17291 {source="Orphanet:280210"} xref: ICD10CM:E75.2 {source="Orphanet:280210", source="Orphanet:280210/attributed", source="Orphanet:280210/ntbt"} xref: Orphanet:280210 {source="MONDO:equivalentTo"} xref: UMLS:CN202703 {source="MONDO:equivalentTo"} @@ -335850,8 +349163,10 @@ is_a: MONDO:0010714 {source="Orphanet:280210"} ! Pelizaeus-Merzbacher disease id: MONDO:0017222 name: Pelizaeus-Merzbacher disease, classic form def: "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." [Orphanet:280219] +subset: gard_rare {source="GARD:21073"} subset: ordo_clinical_subtype {source="Orphanet:280219"} synonym: "classic PMD" EXACT [Orphanet:280219] +xref: GARD:21073 {source="Orphanet:280219"} xref: ICD10CM:E75.2 {source="Orphanet:280219/attributed", source="Orphanet:280219/ntbt", source="Orphanet:280219"} xref: Orphanet:280219 {source="MONDO:equivalentTo"} xref: SCTID:87607002 {source="MONDO:equivalentTo"} @@ -335862,8 +349177,10 @@ is_a: MONDO:0010714 {source="Orphanet:280219"} ! Pelizaeus-Merzbacher disease id: MONDO:0017223 name: Pelizaeus-Merzbacher disease, transitional form def: "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." [Orphanet:280224] +subset: gard_rare {source="GARD:21074"} subset: ordo_clinical_subtype {source="Orphanet:280224"} synonym: "transitional PMD" EXACT [Orphanet:280224] +xref: GARD:21074 {source="Orphanet:280224"} xref: ICD10CM:E75.2 {source="Orphanet:280224/attributed", source="Orphanet:280224/ntbt", source="Orphanet:280224"} xref: Orphanet:280224 {source="MONDO:equivalentTo"} xref: UMLS:C0751917 {source="Orphanet:280224/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280224"} @@ -335873,7 +349190,9 @@ is_a: MONDO:0010714 {source="Orphanet:280224"} ! Pelizaeus-Merzbacher disease id: MONDO:0017224 name: Pelizaeus-Merzbacher disease in female carriers def: "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." [Orphanet:280229] +subset: gard_rare {source="GARD:21075"} subset: ordo_clinical_subtype {source="Orphanet:280229"} +xref: GARD:21075 {source="Orphanet:280229"} xref: ICD10CM:E75.2 {source="Orphanet:280229", source="Orphanet:280229/attributed", source="Orphanet:280229/ntbt"} xref: Orphanet:280229 {source="MONDO:equivalentTo"} xref: UMLS:CN202706 {source="MONDO:equivalentTo"} @@ -335883,9 +349202,11 @@ is_a: MONDO:0010714 {source="Orphanet:280229"} ! Pelizaeus-Merzbacher disease id: MONDO:0017225 name: null syndrome def: "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." [Orphanet:280234] +subset: gard_rare {source="GARD:17292"} subset: ordo_clinical_subtype {source="Orphanet:280234"} synonym: "Pelizaeus-Merzbacher disease, null syndrome" EXACT [Orphanet:280234] synonym: "PLP1 null syndrome" EXACT [Orphanet:280234] +xref: GARD:17292 {source="Orphanet:280234"} xref: ICD10CM:E75.2 {source="Orphanet:280234", source="Orphanet:280234/attributed", source="Orphanet:280234/ntbt"} xref: Orphanet:280234 {source="MONDO:equivalentTo"} xref: UMLS:CN202707 {source="MONDO:equivalentTo"} @@ -335895,9 +349216,10 @@ is_a: MONDO:0010714 {source="Orphanet:280234"} ! Pelizaeus-Merzbacher disease id: MONDO:0017226 name: Pelizaeus-Merzbacher-like disease def: "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." [Orphanet:280270] -subset: gard_rare {source="GARD:0012300"} +subset: gard_rare {source="GARD:12300"} subset: ordo_disease {source="Orphanet:280270"} synonym: "PMLD" EXACT ABBREVIATION [Orphanet:280270] +xref: GARD:12300 {source="Orphanet:280270"} xref: ICD10CM:E75.2 {source="Orphanet:280270", source="Orphanet:280270/attributed", source="Orphanet:280270/ntbt"} xref: Orphanet:280270 {source="MONDO:equivalentTo"} xref: SCTID:717042001 {source="MONDO:equivalentTo"} @@ -335908,12 +349230,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12300/peliza id: MONDO:0017227 name: autoimmune pancreatitis type 1 def: "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." [Orphanet:280302] +subset: gard_rare {source="GARD:21076"} subset: ordo_clinical_subtype {source="Orphanet:280302"} synonym: "AIP type 1" EXACT [Orphanet:280302] synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623] synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302] synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302] xref: EFO:1000780 {source="MONDO:equivalentTo"} +xref: GARD:21076 {source="Orphanet:280302"} xref: ICD10CM:K86.1 {source="Orphanet:280302/ntbt", source="Orphanet:280302"} xref: Orphanet:280302 {source="MONDO:equivalentTo"} xref: PMID:25985088 {source="EFO:1000780"} @@ -335929,9 +349253,11 @@ relationship: disease_has_location UBERON:0002405 {source="EFO:0000784"} ! immun id: MONDO:0017228 name: autoimmune pancreatitis type 2 def: "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." [Orphanet:280315] +subset: gard_rare {source="GARD:21077"} subset: ordo_clinical_subtype {source="Orphanet:280315"} synonym: "AIP type 2" EXACT [Orphanet:280315] synonym: "duct-centric pancreatitis" EXACT [Orphanet:280315] +xref: GARD:21077 {source="Orphanet:280315"} xref: ICD10CM:K86.1 {source="Orphanet:280315/ntbt", source="Orphanet:280315"} xref: Orphanet:280315 {source="MONDO:equivalentTo"} xref: UMLS:CN202713 {source="MONDO:equivalentTo"} @@ -335941,11 +349267,13 @@ is_a: MONDO:0015175 {source="Orphanet:280315"} ! autoimmune pancreatitis id: MONDO:0017229 name: distal monosomy 12p def: "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." [Orphanet:280325] +subset: gard_rare {source="GARD:21078"} subset: ordo_malformation_syndrome {source="Orphanet:280325"} synonym: "12p13.33 microdeletion syndrome" EXACT [Orphanet:280325] synonym: "Del(12)(p13.33)" EXACT [Orphanet:280325] synonym: "distal deletion 12p" EXACT [Orphanet:280325] synonym: "distal monosomy type 12p" EXACT [MONDORULE:4, Orphanet:280325] +xref: GARD:21078 {source="Orphanet:280325"} xref: ICD10CM:Q93.5 {source="Orphanet:280325/attributed", source="Orphanet:280325/ntbt", source="Orphanet:280325"} xref: Orphanet:280325 {source="MONDO:equivalentTo"} xref: UMLS:CN202714 {source="MONDO:equivalentTo"} @@ -335958,7 +349286,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017230 name: autosomal semi-dominant severe lipodystrophic laminopathy +subset: gard_rare {source="GARD:21080"} subset: ordo_disease {source="Orphanet:280365"} +xref: GARD:21080 {source="Orphanet:280365"} xref: ICD10CM:E88.1 {source="Orphanet:280365/attributed", source="Orphanet:280365/ntbt", source="Orphanet:280365"} xref: Orphanet:280365 {source="MONDO:equivalentTo"} xref: UMLS:CN202719 {source="MONDO:equivalentTo"} @@ -335970,8 +349300,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017231 name: erythropoietic uroporphyria associated with myeloid malignancy -subset: gard_rare {source="GARD:0010948"} +subset: gard_rare {source="GARD:10948"} subset: ordo_disease {source="Orphanet:280379"} +xref: GARD:10948 {source="Orphanet:280379"} xref: ICD10CM:E80.2 {source="Orphanet:280379/attributed", source="Orphanet:280379/ntbt", source="Orphanet:280379"} xref: Orphanet:280379 {source="MONDO:equivalentTo"} is_a: MONDO:0019142 {source="Orphanet:280379"} ! inherited porphyria @@ -335981,8 +349312,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10948/erythr id: MONDO:0017232 name: recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome def: "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." [Orphanet:280384] +subset: gard_rare {source="GARD:21083"} subset: ordo_disease {source="Orphanet:280384"} synonym: "IDMDC" EXACT ABBREVIATION [Orphanet:280384] +xref: GARD:21083 {source="Orphanet:280384"} xref: Orphanet:280384 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:280384"} ! syndromic intellectual disability @@ -335992,7 +349325,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017233 name: familial Alzheimer-like prion disease +subset: gard_rare {source="GARD:21084"} subset: ordo_disease {source="Orphanet:280397"} +xref: GARD:21084 {source="Orphanet:280397"} xref: ICD10CM:A81.8 {source="Orphanet:280397", source="Orphanet:280397/ntbt"} xref: Orphanet:280397 {source="MONDO:equivalentTo"} xref: SCTID:721219005 {source="MONDO:equivalentTo"} @@ -336008,8 +349343,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017234 name: obsolete inherited prion disease def: "OBSOLETE. An instance of prion disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21085"} synonym: "familial prion disease" EXACT [Orphanet:280400] synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary] +xref: GARD:21085 {source="MONDO:obsoleteEquivalent", source="Orphanet:280400"} xref: ICD10CM:A81.8 {source="Orphanet:280400/attributed", source="Orphanet:280400/ntbt", source="Orphanet:280400"} xref: Orphanet:280400 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202725 {source="MONDO:obsoleteEquivalent"} @@ -336026,7 +349363,9 @@ is_obsolete: true id: MONDO:0017235 name: familial omphalocele syndrome with facial dysmorphism def: "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands." [Orphanet:280403] +subset: gard_rare {source="GARD:21086"} subset: ordo_malformation_syndrome {source="Orphanet:280403"} +xref: GARD:21086 {source="Orphanet:280403"} xref: Orphanet:280403 {source="MONDO:equivalentTo"} xref: UMLS:CN202726 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:280403"} ! disorder of development or morphogenesis @@ -336056,8 +349395,9 @@ is_a: MONDO:0002462 {source="DOID:4776", source="NCIT:C35264"} ! glomerulonephri [Term] id: MONDO:0017237 name: hereditary sensorimotor neuropathy with hyperelastic skin -subset: gard_rare {source="GARD:0011010"} +subset: gard_rare {source="GARD:11010"} subset: ordo_disease {source="Orphanet:280598"} +xref: GARD:11010 {source="Orphanet:280598"} xref: ICD10CM:G60.0 {source="Orphanet:280598/attributed", source="Orphanet:280598/ntbt", source="Orphanet:280598"} xref: Orphanet:280598 {source="MONDO:equivalentTo"} xref: UMLS:CN202738 {source="MONDO:equivalentTo"} @@ -336071,9 +349411,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11010/heredi [Term] id: MONDO:0017238 name: hemoglobinopathy Toms River +subset: gard_rare {source="GARD:17297"} subset: ordo_disease {source="Orphanet:280615"} synonym: "transient neonatal cyanosis and anaemia due to Toms River Haemoglobin" EXACT OMO:0003005 [] synonym: "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" EXACT [Orphanet:280615] +xref: GARD:17297 {source="Orphanet:280615"} xref: ICD10CM:D58.2 {source="Orphanet:280615/attributed", source="Orphanet:280615/ntbt", source="Orphanet:280615"} xref: Orphanet:280615 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:280615", source="Orphanet:280615/inferred"} ! anemia @@ -336086,8 +349428,10 @@ property_value: confidence "5.6923076923076925" xsd:double id: MONDO:0017239 name: familial progressive hyper- and hypopigmentation def: "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." [Orphanet:280628] +subset: gard_rare {source="GARD:17298"} subset: ordo_disease {source="Orphanet:280628"} synonym: "FPHH" EXACT ABBREVIATION [Orphanet:280628] +xref: GARD:17298 {source="Orphanet:280628"} xref: ICD10CM:L81.8 {source="Orphanet:280628/attributed", source="Orphanet:280628/ntbt", source="Orphanet:280628"} xref: Orphanet:280628 {source="MONDO:equivalentTo"} xref: UMLS:C1840392 {source="Orphanet:280628"} @@ -336097,6 +349441,8 @@ property_value: confidence "1.6470588235294126" xsd:double [Term] id: MONDO:0017240 name: obsolete acrodysostosis with multiple hormone resistance +subset: gard_rare {source="GARD:17300"} +xref: GARD:17300 {source="MONDO:obsoleteEquivalent", source="Orphanet:280651"} xref: ICD10CM:Q75.4 {source="Orphanet:280651/attributed", source="Orphanet:280651/ntbt", source="Orphanet:280651"} xref: Orphanet:280651 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202748 {source="MONDO:obsoleteEquivalent"} @@ -336113,9 +349459,11 @@ is_obsolete: true id: MONDO:0017241 name: obsolete AP4-related intellectual disability and spastic paraplegia def: "OBSOLETE. A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene." [https://www.clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:321171285] +subset: gard_rare {source="GARD:10999"} synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763] synonym: "AP4 related intellectual disability and spastic paraplegia" EXACT [https://github.com/monarch-initiative/mondo/issues/1728] synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [Orphanet:280763] +xref: GARD:10999 {source="MONDO:obsoleteEquivalent", source="Orphanet:280763"} xref: Orphanet:280763 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202757 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -336131,9 +349479,11 @@ is_obsolete: true id: MONDO:0017242 name: cutaneous collagenous vasculopathy def: "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." [Orphanet:280779] +subset: gard_rare {source="GARD:12428"} subset: ordo_disease {source="Orphanet:280779"} synonym: "CCV" EXACT ABBREVIATION [Orphanet:280779] synonym: "cutaneus colagenous vasculopathy" RELATED [GARD:0012428] +xref: GARD:12428 {source="Orphanet:280779"} xref: Orphanet:280779 {source="MONDO:equivalentTo"} xref: SCTID:718634003 {source="MONDO:equivalentTo"} xref: UMLS:C4305323 {source="MONDO:equivalentTo"} @@ -336143,8 +349493,10 @@ is_a: MONDO:0019293 {source="Orphanet:280779"} ! skin vascular disease id: MONDO:0017243 name: bullous diffuse cutaneous mastocytosis def: "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." [Orphanet:280785] +subset: gard_rare {source="GARD:21088"} subset: ordo_clinical_subtype {source="Orphanet:280785"} synonym: "bullous DCM" EXACT [Orphanet:280785] +xref: GARD:21088 {source="Orphanet:280785"} xref: ICD10CM:Q82.2 {source="Orphanet:280785/ntbt", source="Orphanet:280785"} xref: Orphanet:280785 {source="MONDO:equivalentTo"} is_a: MONDO:0019315 {source="Orphanet:280785"} ! diffuse cutaneous mastocytosis @@ -336153,10 +349505,12 @@ is_a: MONDO:0019315 {source="Orphanet:280785"} ! diffuse cutaneous mastocytosis id: MONDO:0017244 name: pseudoxanthomatous diffuse cutaneous mastocytosis def: "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." [Orphanet:280794] +subset: gard_rare {source="GARD:21089"} subset: ordo_clinical_subtype {source="Orphanet:280794"} synonym: "infiltrative small vesicular DCM" EXACT [Orphanet:280794] synonym: "infiltrative small vesicular diffuse cutaneous mastocytosis" EXACT [Orphanet:280794] synonym: "Pseudoxanthomatous DCM" EXACT [Orphanet:280794] +xref: GARD:21089 {source="Orphanet:280794"} xref: ICD10CM:Q82.2 {source="Orphanet:280794/ntbt", source="Orphanet:280794"} xref: Orphanet:280794 {source="MONDO:equivalentTo"} is_a: MONDO:0019315 {source="Orphanet:280794"} ! diffuse cutaneous mastocytosis @@ -336164,9 +349518,11 @@ is_a: MONDO:0019315 {source="Orphanet:280794"} ! diffuse cutaneous mastocytosis [Term] id: MONDO:0017245 name: intralobar congenital pulmonary sequestration +subset: gard_rare {source="GARD:21090"} subset: ordo_clinical_subtype {source="Orphanet:280802"} synonym: "congenital intrapulmonary sequestration" EXACT [Orphanet:280802] synonym: "intralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280802] +xref: GARD:21090 {source="Orphanet:280802"} xref: ICD10CM:Q33.2 {source="Orphanet:280802/ntbt", source="Orphanet:280802"} xref: Orphanet:280802 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280802"} ! congenital pulmonary sequestration @@ -336174,9 +349530,11 @@ is_a: MONDO:0017843 {source="Orphanet:280802"} ! congenital pulmonary sequestrat [Term] id: MONDO:0017246 name: extralobar congenital pulmonary sequestration +subset: gard_rare {source="GARD:21091"} subset: ordo_clinical_subtype {source="Orphanet:280811"} synonym: "congenital extrapulmonary sequestration" EXACT [Orphanet:280811] synonym: "extralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280811] +xref: GARD:21091 {source="Orphanet:280811"} xref: ICD10CM:Q33.2 {source="Orphanet:280811", source="Orphanet:280811/ntbt"} xref: Orphanet:280811 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestration @@ -336184,7 +349542,9 @@ is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestrat [Term] id: MONDO:0017247 name: communicating congenital bronchopulmonary-foregut malformation +subset: gard_rare {source="GARD:21092"} subset: ordo_clinical_subtype {source="Orphanet:280821"} +xref: GARD:21092 {source="Orphanet:280821"} xref: ICD10CM:Q33.2 {source="Orphanet:280821/ntbt", source="Orphanet:280821"} xref: Orphanet:280821 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280821"} ! congenital pulmonary sequestration @@ -336192,10 +349552,12 @@ is_a: MONDO:0017843 {source="Orphanet:280821"} ! congenital pulmonary sequestrat [Term] id: MONDO:0017248 name: congenital pulmonary airway malformation type 0 +subset: gard_rare {source="GARD:21093"} subset: ordo_clinical_subtype {source="Orphanet:280827"} synonym: "congenital cystic adenomatoid malformation of the lung type 0" EXACT [Orphanet:280827] synonym: "congenital cystic adenomatous malformation of the lung type 0" EXACT [Orphanet:280827] synonym: "CPAM type 0" EXACT [Orphanet:280827] +xref: GARD:21093 {source="Orphanet:280827"} xref: ICD10CM:Q33.0 {source="Orphanet:280827/ntbt", source="Orphanet:280827"} xref: Orphanet:280827 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway malformation @@ -336203,12 +349565,14 @@ is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway mal [Term] id: MONDO:0017249 name: congenital pulmonary airway malformation type 1 +subset: gard_rare {source="GARD:21094"} subset: ordo_clinical_subtype {source="Orphanet:280832"} synonym: "CCAM type 1" EXACT [Orphanet:280832] synonym: "congenital cystic adenomatoid malformation of the lung type 1" EXACT [Orphanet:280832] synonym: "congenital cystic adenomatous malformation of the lung type 1" EXACT [Orphanet:280832] synonym: "congenital cystic disease of the lung type 1" EXACT [Orphanet:280832] synonym: "CPAM type 1" EXACT [Orphanet:280832] +xref: GARD:21094 {source="Orphanet:280832"} xref: ICD10CM:Q33.0 {source="Orphanet:280832/ntbt", source="Orphanet:280832"} xref: Orphanet:280832 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280832"} ! congenital pulmonary airway malformation @@ -336218,12 +349582,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017250 name: congenital pulmonary airway malformation type 2 +subset: gard_rare {source="GARD:21095"} subset: ordo_clinical_subtype {source="Orphanet:280840"} synonym: "CCAM type 2" EXACT [Orphanet:280840] synonym: "congenital cystic adenomatoid malformation of the lung type 2" EXACT [Orphanet:280840] synonym: "congenital cystic adenomatous malformation of the lung type 2" EXACT [Orphanet:280840] synonym: "congenital cystic disease of the lung type 2" EXACT [Orphanet:280840] synonym: "CPAM type 2" EXACT [Orphanet:280840] +xref: GARD:21095 {source="Orphanet:280840"} xref: ICD10CM:Q33.0 {source="Orphanet:280840/ntbt", source="Orphanet:280840"} xref: Orphanet:280840 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway malformation @@ -336231,12 +349597,14 @@ is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway mal [Term] id: MONDO:0017251 name: congenital pulmonary airway malformation type 3 +subset: gard_rare {source="GARD:21096"} subset: ordo_clinical_subtype {source="Orphanet:280847"} synonym: "CCAM type 3" EXACT [Orphanet:280847] synonym: "congenital cystic adenomatoid malformation of the lung type 3" EXACT [Orphanet:280847] synonym: "congenital cystic adenomatous malformation of the lung type 3" EXACT [Orphanet:280847] synonym: "congenital cystic disease of the lung type 3" EXACT [Orphanet:280847] synonym: "CPAM type 3" EXACT [Orphanet:280847] +xref: GARD:21096 {source="Orphanet:280847"} xref: ICD10CM:Q33.0 {source="Orphanet:280847", source="Orphanet:280847/ntbt"} xref: Orphanet:280847 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway malformation @@ -336244,10 +349612,12 @@ is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway mal [Term] id: MONDO:0017252 name: congenital pulmonary airway malformation type 4 +subset: gard_rare {source="GARD:21097"} subset: ordo_clinical_subtype {source="Orphanet:280854"} synonym: "congenital cystic adenomatoid malformation of the lung type 4" EXACT [Orphanet:280854] synonym: "congenital cystic adenomatous malformation of the lung type 4" EXACT [Orphanet:280854] synonym: "CPAM type 4" EXACT [Orphanet:280854] +xref: GARD:21097 {source="Orphanet:280854"} xref: ICD10CM:Q33.0 {source="Orphanet:280854/ntbt", source="Orphanet:280854"} xref: Orphanet:280854 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280854"} ! congenital pulmonary airway malformation @@ -336271,6 +349641,7 @@ id: MONDO:0017255 name: panuveitis def: "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." [NCIT:C84989] subset: disease_grouping +subset: gard_rare {source="GARD:8577"} subset: ordo_group_of_disorders {source="Orphanet:280898"} synonym: "diffuse uveitis" EXACT [DOID:12030] synonym: "panuveitis" EXACT [MONDO:ambiguous] @@ -336278,6 +349649,7 @@ synonym: "panuveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "total uveitis" EXACT [Orphanet:280898] xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"} xref: EFO:1001082 {source="MONDO:equivalentTo"} +xref: GARD:8577 {source="Orphanet:280898"} xref: HP:0012121 {source="MONDO:otherHierarchy"} xref: ICD10CM:H44.1 {source="Orphanet:280898/ntbt", source="Orphanet:280898"} xref: ICD10CM:H44.11 {source="DOID:12030"} @@ -336294,7 +349666,9 @@ property_value: IAO:0000589 "panuveitis (disease)" xsd:string [Term] id: MONDO:0017256 name: idiopathic anterior uveitis +subset: gard_rare {source="GARD:21098"} subset: ordo_disease {source="Orphanet:280914"} +xref: GARD:21098 {source="Orphanet:280914"} xref: ICD10CM:H20.0 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} xref: ICD10CM:H20.1 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} xref: ICD10CM:H20.2 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} @@ -336312,7 +349686,9 @@ id: MONDO:0017257 name: idiopathic posterior uveitis def: "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." [Orphanet:280917] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) +subset: gard_rare {source="GARD:21099"} subset: ordo_disease {source="Orphanet:280917"} +xref: GARD:21099 {source="Orphanet:280917"} xref: ICD10CM:H20.0 {source="Orphanet:280917", source="Orphanet:280917/ntbt"} xref: Orphanet:280917 {source="MONDO:equivalentTo"} is_a: MONDO:0002661 {source="https://orcid.org/0000-0002-4142-7153"} ! uveal disorder @@ -336327,7 +349703,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017258 name: idiopathic panuveitis def: "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." [Orphanet:280921] +subset: gard_rare {source="GARD:21100"} subset: ordo_disease {source="Orphanet:280921"} +xref: GARD:21100 {source="Orphanet:280921"} xref: ICD10CM:H44.1 {source="Orphanet:280921", source="Orphanet:280921/ntbt"} xref: Orphanet:280921 {source="MONDO:equivalentTo"} xref: SCTID:766933000 {source="MONDO:equivalentTo"} @@ -336340,7 +349718,9 @@ id: MONDO:0017259 name: obsolete systemic diseases with anterior uveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping +subset: gard_rare {source="GARD:21101"} subset: ordo_group_of_disorders {source="Orphanet:280926"} +xref: GARD:21101 {source="MONDO:obsoleteEquivalent", source="Orphanet:280926"} xref: Orphanet:280926 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202777 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336353,7 +349733,9 @@ id: MONDO:0017260 name: obsolete systemic diseases with posterior uveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping +subset: gard_rare {source="GARD:21102"} subset: ordo_group_of_disorders {source="Orphanet:280930"} +xref: GARD:21102 {source="MONDO:obsoleteEquivalent", source="Orphanet:280930"} xref: Orphanet:280930 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202778 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336366,7 +349748,9 @@ id: MONDO:0017261 name: obsolete systemic diseases with panuveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping +subset: gard_rare {source="GARD:21103"} subset: ordo_group_of_disorders {source="Orphanet:280933"} +xref: GARD:21103 {source="Orphanet:280933", source="MONDO:obsoleteEquivalent"} xref: Orphanet:280933 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202779 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336378,8 +349762,10 @@ consider: MONDO:0017255 id: MONDO:0017262 name: obsolete inherited non-syndromic ichthyosis def: "OBSOLETE. A inherited ichthyosis that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:21104"} synonym: "isolated inherited ichthyosis" EXACT [] synonym: "nonsyndromic inherited ichthyosis" EXACT [MONDO:patterns/isolated] +xref: GARD:21104 {source="Orphanet:281082", source="MONDO:obsoleteEquivalent"} xref: Orphanet:281082 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -336391,8 +349777,10 @@ is_obsolete: true id: MONDO:0017263 name: obsolete inherited ichthyosis syndromic form def: "OBSOLETE. A inherited ichthyosis that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:21105"} synonym: "syndrome associated with inherited ichthyosis" EXACT [MONDO:patterns/syndromic] synonym: "syndromic inherited ichthyosis" EXACT [MONDO:patterns/syndromic] +xref: GARD:21105 {source="MONDO:obsoleteEquivalent", source="Orphanet:281085"} xref: Orphanet:281085 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -336405,12 +349793,14 @@ is_obsolete: true id: MONDO:0017264 name: syndromic recessive X-linked ichthyosis def: "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." [Orphanet:281090] +subset: gard_rare {source="GARD:17302"} subset: ordo_disease {source="Orphanet:281090"} synonym: "recessive X-linked ichthyosis with extracutaneous manifestations" EXACT [Orphanet:281090] synonym: "syndrome associated with recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic] synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic] synonym: "syndromic RXLI" EXACT [Orphanet:281090] synonym: "syndromic X-linked ichthyosis" EXACT [Orphanet:281090] +xref: GARD:17302 {source="Orphanet:281090"} xref: ICD10CM:Q80.1 {source="Orphanet:281090/attributed", source="Orphanet:281090/ntbt", source="Orphanet:281090"} xref: Orphanet:281090 {source="MONDO:equivalentTo"} xref: SCTID:717041008 {source="MONDO:equivalentTo"} @@ -336426,12 +349816,14 @@ name: autosomal recessive congenital ichthyosis def: "Autosomal recessive form of inherited ichthyosis." [MONDO:patterns/autosomal_recessive] comment: Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV). subset: disease_grouping +subset: gard_rare {source="GARD:21106"} subset: ordo_group_of_disorders {source="Orphanet:281097"} synonym: "ARCI" EXACT ABBREVIATION [DOID:0060655, Orphanet:281097, PMID:20643494] synonym: "autosomal recessive inherited ichthyosis" EXACT [] synonym: "ichthyosis, congenital, autosomal recessive" EXACT [OMIMPS:242300] synonym: "inherited ichthyosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0060655 {source="MONDO:equivalentTo"} +xref: GARD:21106 {source="Orphanet:281097"} xref: OMIMPS:242300 {source="DOID:0060655", source="MONDO:equivalentTo"} xref: Orphanet:281097 {source="DOID:0060655", source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder @@ -336446,8 +349838,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017266 name: keratinopathic ichthyosis subset: disease_grouping +subset: gard_rare {source="GARD:21107"} subset: ordo_group_of_disorders {source="Orphanet:281103"} synonym: "KPI" EXACT ABBREVIATION [Orphanet:281103] +xref: GARD:21107 {source="Orphanet:281103"} xref: Orphanet:281103 {source="MONDO:equivalentTo"} xref: SCTID:724837004 {source="MONDO:equivalentTo"} xref: UMLS:C4511307 {source="MONDO:equivalentTo"} @@ -336462,11 +349856,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017267 name: self-healing collodion baby def: "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." [Orphanet:281122] +subset: gard_rare {source="GARD:17303"} subset: ordo_disease {source="Orphanet:281122"} synonym: "self-improving collodion baby" RELATED [Orphanet:281122] synonym: "self-improving congenital ichthyosis" EXACT [Orphanet:281122] synonym: "SHCB" EXACT ABBREVIATION [Orphanet:281122] synonym: "SICI" EXACT ABBREVIATION [Orphanet:281122] +xref: GARD:17303 {source="Orphanet:281122"} xref: ICD10CM:Q80.2 {source="Orphanet:281122", source="Orphanet:281122/attributed", source="Orphanet:281122/ntbt"} xref: MESH:C565473 {source="MONDO:equivalentTo"} xref: Orphanet:281122 {source="MONDO:equivalentTo"} @@ -336479,8 +349875,10 @@ property_value: confidence "0.04999999999999982" xsd:double id: MONDO:0017268 name: acral self-healing collodion baby def: "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." [Orphanet:281127] +subset: gard_rare {source="GARD:21108"} subset: ordo_disease {source="Orphanet:281127"} synonym: "acral SHCB" EXACT [Orphanet:281127] +xref: GARD:21108 {source="Orphanet:281127"} xref: ICD10CM:Q80.2 {source="Orphanet:281127/attributed", source="Orphanet:281127/ntbt", source="Orphanet:281127"} xref: Orphanet:281127 {source="MONDO:equivalentTo"} xref: SCTID:718633009 {source="MONDO:equivalentTo"} @@ -336492,9 +349890,11 @@ name: X-linked ichthyosis syndrome def: "X-linked form of inherited ichthyosis syndromic form." [MONDO:patterns/x_linked] comment: Editor note: check relationship to syndromic recessive X-linked ichthyosis subset: disease_grouping +subset: gard_rare {source="GARD:21109"} subset: ordo_group_of_disorders {source="Orphanet:281210"} synonym: "inherited ichthyosis syndromic form, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked inherited ichthyosis syndromic form" EXACT [MONDO:design_pattern] +xref: GARD:21109 {source="Orphanet:281210"} xref: MedDRA:10048063 {source="Orphanet:281210", source="Orphanet:281210/e"} xref: Orphanet:281210 {source="MONDO:equivalentTo"} xref: UMLS:C0079588 {source="MONDO:relatedTo", source="Orphanet:281210", source="Orphanet:281210/e"} @@ -336506,6 +349906,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017270 name: obsolete autosomal ichthyosis syndrome +subset: gard_rare {source="GARD:21110"} +xref: GARD:21110 {source="MONDO:obsoleteEquivalent", source="Orphanet:281217"} xref: Orphanet:281217 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202791 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -336519,7 +349921,9 @@ is_obsolete: true id: MONDO:0017271 name: obsolete autosomal ichthyosis syndrome with prominent hair abnormalities comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' +subset: gard_rare {source="GARD:21111"} subset: ordo_group_of_disorders {source="Orphanet:281222"} +xref: GARD:21111 {source="MONDO:obsoleteEquivalent", source="Orphanet:281222"} xref: Orphanet:281222 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202792 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336531,8 +349935,10 @@ consider: MONDO:0015947 id: MONDO:0017272 name: obsolete autosomal ichthyosis syndrome with prominent neurologics signs comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' +subset: gard_rare {source="GARD:21112"} subset: ordo_group_of_disorders {source="Orphanet:281238"} synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [Orphanet:281238] +xref: GARD:21112 {source="MONDO:obsoleteEquivalent", source="Orphanet:281238"} xref: Orphanet:281238 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336544,7 +349950,9 @@ consider: MONDO:0015947 id: MONDO:0017273 name: obsolete autosomal ichthyosis syndrome with fatal disease course comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' +subset: gard_rare {source="GARD:21113"} subset: ordo_group_of_disorders {source="Orphanet:281241"} +xref: GARD:21113 {source="MONDO:obsoleteEquivalent", source="Orphanet:281241"} xref: Orphanet:281241 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202794 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -336566,10 +349974,12 @@ consider: MONDO:0017270 id: MONDO:0017275 name: spastic paraplegia-facial-cutaneous lesions syndrome def: "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." [Orphanet:2819] +subset: gard_rare {source="GARD:806"} subset: ordo_malformation_syndrome {source="Orphanet:2819"} synonym: "Bahemuka Brown syndrome" RELATED [GARD:0000806] synonym: "Bahemuka-Brown syndrome" EXACT [Orphanet:2819] synonym: "spastic paraplegia facial cutaneous lesions" RELATED [GARD:0000806] +xref: GARD:806 {source="Orphanet:2819"} xref: MESH:C537797 {source="MONDO:equivalentTo"} xref: Orphanet:2819 {source="MONDO:equivalentTo"} xref: SCTID:763403007 {source="MONDO:equivalentTo"} @@ -336581,6 +349991,7 @@ id: MONDO:0017276 name: frontotemporal dementia def: "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." [Orphanet:282] subset: disease_grouping +subset: gard_rare {source="GARD:8436"} subset: ordo_group_of_disorders {source="Orphanet:282"} synonym: "frontotemporal lobar degeneration" EXACT [DOID:9255] synonym: "frontotemporal lobe dementia (FLDEM)" RELATED [GARD:0008436] @@ -336590,6 +350001,7 @@ synonym: "multiple system tauopathy with presenile dementia" EXACT [DOID:9255] synonym: "pallidopontonigral degeneration" EXACT [DOID:9255] synonym: "Wilhemsen-Lynch disease" EXACT [DOID:9255] xref: DOID:9255 {source="MONDO:equivalentTo"} +xref: GARD:8436 {source="Orphanet:282"} xref: ICD10CM:G31.0 {source="Orphanet:282", source="Orphanet:282/attributed", source="Orphanet:282/ntbt"} xref: MedDRA:10068968 {source="Orphanet:282", source="Orphanet:282/e"} xref: MESH:C563003 {source="DOID:9255"} @@ -336610,9 +350022,11 @@ relationship: excluded_subClassOf MONDO:0003996 {source="DOID:9255"} ! basal gan id: MONDO:0017277 name: partial deletion of chromosome 12 subset: disease_grouping +subset: gard_rare {source="GARD:21115"} subset: ordo_group_of_disorders {source="Orphanet:282124"} synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2, Orphanet:282124] synonym: "partial monosomy of chromosome 12" EXACT [Orphanet:282124] +xref: GARD:21115 {source="Orphanet:282124"} xref: ICD10CM:Q93.5 {source="Orphanet:282124", source="Orphanet:282124/attributed", source="Orphanet:282124/ntbt"} xref: Orphanet:282124 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -336624,6 +350038,7 @@ id: MONDO:0017278 name: autoimmune polyendocrinopathy def: "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." [NCIT:C129726] subset: disease_grouping +subset: gard_rare {source="GARD:21116"} subset: ordo_group_of_disorders {source="Orphanet:282196"} synonym: "APS" EXACT ABBREVIATION [Orphanet:282196] synonym: "autoimmune polyendocrine syndrome" EXACT [DOID:14040] @@ -336635,6 +350050,7 @@ synonym: "autoimmune polyglandular syndrome" EXACT [Orphanet:282196] synonym: "autoimmune polyglandular syndrome(s)" EXACT [NCIT:C129726] synonym: "Lloyd's syndrome" EXACT [DOID:14040] xref: DOID:14040 {source="MONDO:equivalentTo"} +xref: GARD:21116 {source="Orphanet:282196"} xref: ICD10CM:E31.0 {source="Orphanet:282196/ntbt", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016884 {source="DOID:14040"} @@ -336655,11 +350071,13 @@ is_a: MONDO:0015126 {source="MONDO:Redundant", source="Orphanet:282196"} ! polye id: MONDO:0017279 name: young-onset Parkinson disease def: "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." [Orphanet:2828] +subset: gard_rare {source="GARD:16610"} subset: ordo_disease {source="Orphanet:2828"} synonym: "early-onset Parkinson disease" EXACT [Orphanet:2828] synonym: "early-onset Parkinson's disease" RELATED [DOID:0060894] synonym: "YOPD" EXACT ABBREVIATION [Orphanet:2828] xref: DOID:0060894 {source="MONDO:equivalentTo"} +xref: GARD:16610 {source="Orphanet:2828"} xref: ICD10CM:G20 {source="Orphanet:2828/attributed", source="Orphanet:2828/ntbt", source="Orphanet:2828"} xref: Orphanet:2828 {source="MONDO:equivalentTo"} xref: Orphanet:391411 {source="DOID:0060894", source="MONDO:directSiblingOf"} @@ -336675,7 +350093,7 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0017280 name: demodicidosis def: "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." [Orphanet:283] -subset: gard_rare {source="GARD:0001802"} +subset: gard_rare {source="GARD:1802"} subset: ordo_disease {source="Orphanet:283"} synonym: "demodectic mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demodicosis] synonym: "Demodex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -336683,6 +350101,7 @@ synonym: "Demodex disease or disorder" EXACT [] synonym: "Demodex infectious disease" EXACT [] synonym: "Demodicosis" EXACT [Orphanet:283] synonym: "red mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demodicosis] +xref: GARD:1802 {source="Orphanet:283"} xref: ICD10CM:B88.0 {source="Orphanet:283", source="Orphanet:283/ntbt"} xref: Orphanet:283 {source="MONDO:equivalentTo"} xref: UMLS:C3854478 {source="MONDO:equivalentTo", source="Orphanet:283"} @@ -336696,7 +350115,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1802/demodic [Term] id: MONDO:0017281 name: renal caliceal diverticuli-deafness syndrome +subset: gard_rare {source="GARD:4655"} subset: ordo_malformation_syndrome {source="Orphanet:2838"} +xref: GARD:4655 {source="Orphanet:2838"} xref: Orphanet:2838 {source="MONDO:equivalentTo"} xref: UMLS:CN202834 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -336705,7 +350126,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0017282 name: alveolar echinococcosis def: "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." [Orphanet:284] -subset: gard_rare +subset: gard_rare {source="GARD:207"} subset: ordo_disease {source="Orphanet:284"} synonym: "alveolococcosis" EXACT [DOID:12148] synonym: "echinococcosis" BROAD [GARD:0000207] @@ -336717,6 +350138,7 @@ synonym: "Echinococcus multilocularis infectious disease" EXACT [] synonym: "multilocular hydatid" EXACT [DOID:12148] synonym: "small fox tapeworm" EXACT [DOID:12148] xref: DOID:12148 {source="MONDO:equivalentTo"} +xref: GARD:207 {source="Orphanet:284"} xref: ICD10CM:B67.5 {source="Orphanet:284/btnt", source="Orphanet:284"} xref: ICD10CM:B67.6 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} xref: ICD10CM:B67.7 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} @@ -336737,12 +350159,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare [Term] id: MONDO:0017283 name: DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion +subset: gard_rare {source="GARD:17311"} subset: ordo_clinical_subtype {source="Orphanet:284169"} synonym: "10p12p11 microdeletion syndrome" EXACT [Orphanet:284169] synonym: "Del(10)(p11.21p12.31)" EXACT [Orphanet:284169] synonym: "deletion 10p11.21p12.31" EXACT [Orphanet:284169] synonym: "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT [Orphanet:284169] synonym: "monosomy 10p11.21p12.31" EXACT [Orphanet:284169] +xref: GARD:17311 {source="Orphanet:284169"} xref: Orphanet:284169 {source="MONDO:equivalentTo"} xref: UMLS:CN202845 {source="MONDO:equivalentTo"} is_a: MONDO:0016892 {source="Orphanet:284169"} ! partial deletion of the short arm of chromosome 10 @@ -336758,10 +350182,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017284 name: Xp22.13p22.2 duplication syndrome +subset: gard_rare {source="GARD:21117"} subset: ordo_malformation_syndrome {source="Orphanet:284180"} synonym: "dup(X)(p22)" EXACT [Orphanet:284180] synonym: "dup(X)(p22.13p22.2)" EXACT [Orphanet:284180] synonym: "Duplication Xp22" EXACT [Orphanet:284180] +xref: GARD:21117 {source="Orphanet:284180"} xref: ICD10CM:Q99.8 {source="Orphanet:284180/attributed", source="Orphanet:284180/ntbt", source="Orphanet:284180"} xref: Orphanet:284180 {source="MONDO:equivalentTo"} xref: UMLS:CN202846 {source="MONDO:equivalentTo"} @@ -336779,12 +350205,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017285 name: penoscrotal transposition def: "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." [Orphanet:2842] +subset: gard_rare {source="GARD:4273"} subset: ordo_morphological_anomaly {source="Orphanet:2842"} synonym: "congenital penoscrotal transposition" EXACT [NCIT:C99010] synonym: "congenital transposition of the penis" RELATED [GARD:0004273] synonym: "penoscrotal transposition" EXACT [MONDO:ambiguous] synonym: "penoscrotal transposition (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Prepenile scrotum" RELATED [GARD:0004273] +xref: GARD:4273 {source="Orphanet:2842"} xref: HP:0100600 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q55.8 {source="Orphanet:2842", source="Orphanet:2842/ntbt"} xref: MedDRA:10067287 {source="Orphanet:2842", source="Orphanet:2842/e"} @@ -336803,10 +350231,11 @@ property_value: IAO:0000589 "penoscrotal transposition (disease)" xsd:string id: MONDO:0017286 name: tempi syndrome def: "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." [Orphanet:284227] -subset: gard_rare {source="GARD:0010962"} +subset: gard_rare {source="GARD:10962"} subset: ordo_clinical_syndrome {source="Orphanet:284227"} synonym: "telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" RELATED [GARD:0010962] synonym: "telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome" EXACT [Orphanet:284227] +xref: GARD:10962 {source="Orphanet:284227"} xref: NCIT:C121656 {source="MONDO:equivalentTo"} xref: Orphanet:284227 {source="MONDO:equivalentTo"} xref: SCTID:718614004 {source="MONDO:equivalentTo"} @@ -336820,6 +350249,7 @@ id: MONDO:0017287 name: IgG4-related disease def: "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." [NCIT:C95992] subset: disease_grouping +subset: gard_rare {source="GARD:12521", source="GARD:22391"} subset: ordo_disease subset: ordo_group_of_disorders {source="Orphanet:284264"} synonym: "hyper-IgG4 disease" RELATED [GARD:0012521] @@ -336837,6 +350267,8 @@ synonym: "multifocal idiopathic fibrosclerosis" RELATED [GARD:0012521] synonym: "systemic IgG4-related plasmacytic syndrome" RELATED [GARD:0012521] synonym: "systemic IgG4-related sclerosing syndrome" RELATED [GARD:0012521] xref: DOID:0080356 {source="MONDO:equivalentTo"} +xref: GARD:12521 {source="Orphanet:284264"} +xref: GARD:22391 {source="Orphanet:596448"} xref: MedDRA:10071569 {source="Orphanet:284264", source="Orphanet:284264/e"} xref: NCIT:C95992 {source="MONDO:equivalentTo"} xref: Orphanet:284264 {source="DOID:0080356", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -336850,6 +350282,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017288 name: obsolete DICER1 syndrome +xref: GARD:10734 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6460" xsd:anyURI is_obsolete: true @@ -336858,10 +350291,12 @@ replaced_by: MONDO:0100216 [Term] id: MONDO:0017289 name: fetal lung interstitial tumor +subset: gard_rare {source="GARD:21118"} subset: ordo_clinical_subtype {source="Orphanet:284362"} synonym: "flit" EXACT [Orphanet:284362] synonym: "immature interstitial mesenchymal tumor" EXACT [Orphanet:284362] synonym: "immature interstitial mesenchymal tumour" EXACT OMO:0003005 [] +xref: GARD:21118 {source="Orphanet:284362"} xref: Orphanet:284362 {source="MONDO:equivalentTo"} xref: UMLS:CN202863 {source="MONDO:equivalentTo"} is_a: MONDO:0011014 {source="Orphanet:284362"} ! pleuropulmonary blastoma @@ -336871,8 +350306,10 @@ id: MONDO:0017290 name: familial intrahepatic cholestasis def: "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21119"} subset: ordo_group_of_disorders {source="Orphanet:284385"} synonym: "hereditary intrahepatic cholestasis" EXACT [MONDO:patterns/hereditary] +xref: GARD:21119 {source="Orphanet:284385"} xref: ICD10CM:K83.1 {source="Orphanet:284385/attributed", source="Orphanet:284385/ntbt", source="Orphanet:284385"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:284385 {source="MONDO:equivalentTo"} @@ -336890,9 +350327,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017291 name: reversible cerebral vasoconstriction syndrome def: "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." [Orphanet:284388] -subset: gard_rare {source="GARD:0012768"} +subset: gard_rare {source="GARD:12768"} subset: ordo_clinical_syndrome {source="Orphanet:284388"} synonym: "RCVS" EXACT ABBREVIATION [Orphanet:284388] +xref: GARD:12768 {source="Orphanet:284388"} xref: ICD10CM:I67.8 {source="Orphanet:284388", source="Orphanet:284388/ntbt"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:284388 {source="MONDO:equivalentTo"} @@ -336906,6 +350344,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12768/revers id: MONDO:0017292 name: well-differentiated fetal adenocarcinoma of the lung def: "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss." [Orphanet:284395] +subset: gard_rare {source="GARD:21120"} subset: ordo_disease {source="Orphanet:284395"} synonym: "fetal adenocarcinoma" EXACT [NCIT:C45509] synonym: "fetal lung adenocarcinoma" EXACT [NCIT:C45509] @@ -336918,6 +350357,7 @@ synonym: "pulmonary endodermal tumour resembling foetal lung" EXACT OMO:0003005 synonym: "WDFA" EXACT ABBREVIATION [Orphanet:284395] synonym: "well-differentiated fetal lung adenocarcinoma" EXACT [NCIT:C45509] synonym: "well-differentiated foetal lung adenocarcinoma" EXACT OMO:0003005 [] +xref: GARD:21120 {source="Orphanet:284395"} xref: ICD10CM:C34.1 {source="Orphanet:284395", source="Orphanet:284395/btnt"} xref: ICD10CM:C34.2 {source="Orphanet:284395", source="Orphanet:284395/btnt"} xref: ICD10CM:C34.3 {source="Orphanet:284395", source="Orphanet:284395/btnt"} @@ -336953,7 +350393,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017295 name: glycerol kinase deficiency, juvenile form def: "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." [Orphanet:284411] +subset: gard_rare {source="GARD:17316"} subset: ordo_clinical_subtype {source="Orphanet:284411"} +xref: GARD:17316 {source="Orphanet:284411"} xref: ICD10CM:E74.8 {source="Orphanet:284411", source="Orphanet:284411/attributed", source="Orphanet:284411/ntbt"} xref: Orphanet:284411 {source="MONDO:equivalentTo"} is_a: MONDO:0018459 {source="Orphanet:284411"} ! isolated glycerol kinase deficiency @@ -336965,7 +350407,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017296 name: glycerol kinase deficiency, adult form def: "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." [Orphanet:284414] +subset: gard_rare {source="GARD:17317"} subset: ordo_clinical_subtype {source="Orphanet:284414"} +xref: GARD:17317 {source="Orphanet:284414"} xref: ICD10CM:E74.8 {source="Orphanet:284414", source="Orphanet:284414/attributed", source="Orphanet:284414/ntbt"} xref: Orphanet:284414 {source="MONDO:equivalentTo"} is_a: MONDO:0018459 {source="Orphanet:284414"} ! isolated glycerol kinase deficiency @@ -336976,8 +350420,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017297 name: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref="Orphanet:284448"} +subset: gard_rare {source="GARD:10779"} subset: ordo_disease {source="Orphanet:284448"} synonym: "CLIPPERS" EXACT [Orphanet:284448] +xref: GARD:10779 {source="Orphanet:284448"} xref: Orphanet:284448 {source="MONDO:equivalentTo"} xref: UMLS:C3854437 {source="MONDO:equivalentTo", source="Orphanet:284448"} is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder @@ -336986,9 +350432,10 @@ is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder id: MONDO:0017298 name: acute zonal occult outer retinopathy def: "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." [https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy] -subset: gard_rare {source="GARD:0008640"} +subset: gard_rare {source="GARD:8640"} subset: ordo_disease {source="Orphanet:284454"} synonym: "AZOOR" EXACT ABBREVIATION [Orphanet:284454] +xref: GARD:8640 {source="Orphanet:284454"} xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538223 {source="MONDO:equivalentTo"} xref: Orphanet:284454 {source="MONDO:equivalentTo"} @@ -337002,8 +350449,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8640/acute-z [Term] id: MONDO:0017299 name: acute annular outer retinopathy +subset: gard_rare {source="GARD:21121"} subset: ordo_disease {source="Orphanet:284460"} synonym: "AAOR" EXACT ABBREVIATION [Orphanet:284460] +xref: GARD:21121 {source="Orphanet:284460"} xref: Orphanet:284460 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -337014,7 +350463,9 @@ id: MONDO:0017300 name: congenital pericardium anomaly def: "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." [Orphanet:2846] subset: disease_grouping +subset: gard_rare {source="GARD:18779"} subset: ordo_group_of_disorders {source="Orphanet:2846"} +xref: GARD:18779 {source="Orphanet:2846"} xref: ICD10CM:Q24.8 {source="Orphanet:2846/ntbt", source="Orphanet:2846"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:2846 {source="MONDO:equivalentTo"} @@ -337026,7 +350477,9 @@ is_a: MONDO:0019512 {source="Orphanet:2846"} ! congenital heart malformation id: MONDO:0017301 name: pericardial and diaphragmatic defect def: "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." [Orphanet:2847] +subset: gard_rare {source="GARD:18780"} subset: ordo_malformation_syndrome {source="Orphanet:2847"} +xref: GARD:18780 {source="Orphanet:2847"} xref: Orphanet:2847 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:2847"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -337035,6 +350488,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017302 name: obsolete qualitative or quantitative defects of troponin +subset: gard_rare {source="GARD:21122"} +xref: GARD:21122 {source="MONDO:obsoleteEquivalent", source="Orphanet:284786"} xref: Orphanet:284786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -337045,7 +350500,9 @@ is_obsolete: true id: MONDO:0017303 name: qualitative or quantitative defects of tropomyosin subset: disease_grouping +subset: gard_rare {source="GARD:21123"} subset: ordo_group_of_disorders {source="Orphanet:284790"} +xref: GARD:21123 {source="Orphanet:284790"} xref: Orphanet:284790 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:284790"} ! qualitative or quantitative protein defects in neuromuscular diseases property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -337055,11 +350512,13 @@ id: MONDO:0017304 name: ocular albinism def: "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." [MESH:D016117] subset: disease_grouping +subset: gard_rare {source="GARD:21124"} subset: ordo_group_of_disorders {source="Orphanet:284804"} synonym: "ocular albinism" EXACT [MONDO:ambiguous] synonym: "ocular albinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: DOID:0050633 {source="MONDO:equivalentTo"} +xref: GARD:21124 {source="Orphanet:284804"} xref: HP:0001107 {source="MONDO:otherHierarchy"} xref: ICD10CM:E70.3 {source="Orphanet:284804", source="Orphanet:284804/ntbt", source="Orphanet:284804/inclusion"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -337078,9 +350537,11 @@ id: MONDO:0017305 name: syndromic oculocutaneous albinism def: "A oculocutaneous albinism that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: disease_grouping +subset: gard_rare {source="GARD:21125"} subset: ordo_group_of_disorders {source="Orphanet:284811"} synonym: "syndrome associated with oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] +xref: GARD:21125 {source="Orphanet:284811"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:284811/attributed", source="Orphanet:284811/ntbt", source="Orphanet:284811"} xref: Orphanet:284811 {source="MONDO:equivalentTo"} xref: UMLS:CN227111 {source="MONDO:equivalentTo"} @@ -337093,7 +350554,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017306 name: disorder of phenylalanine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21126"} subset: ordo_group_of_disorders {source="Orphanet:284814"} +xref: GARD:21126 {source="Orphanet:284814"} xref: ICD10CM:E70.0 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"} xref: ICD10CM:E70.1 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -337108,7 +350571,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006558 ! L-phenylalanine id: MONDO:0017307 name: disorder of tyrosine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21127"} subset: ordo_group_of_disorders {source="Orphanet:284818"} +xref: GARD:21127 {source="Orphanet:284818"} xref: ICD10CM:E70.2 {source="Orphanet:284818", source="Orphanet:284818/e", source="Orphanet:284818/specific"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:284818 {source="MONDO:equivalentTo"} @@ -337122,10 +350587,12 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006570 ! tyrosine metabo id: MONDO:0017308 name: obsolete Marfan syndrome type 2 def: "OBSOLETE. Hypothesized form of Marfan; dubious" [https://github.com/monarch-initiative/monarch-disease-ontology/issues/101] +subset: gard_rare {source="GARD:17318"} subset: ordo_clinical_subtype {source="Orphanet:284973"} subset: speculative synonym: "Marfan syndrome type II" EXACT [NCIT:C75007] synonym: "MFS2" EXACT ABBREVIATION [Orphanet:284973] +xref: GARD:17318 {source="MONDO:obsoleteEquivalent", source="Orphanet:284973"} xref: ICD10CM:Q87.4 {source="Orphanet:284973", source="Orphanet:284973/attributed", source="Orphanet:284973/ntbt"} xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C75007 {source="MONDO:obsoleteEquivalentObsolete"} @@ -337139,8 +350606,10 @@ replaced_by: MONDO:0012427 id: MONDO:0017309 name: neonatal Marfan syndrome def: "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." [Orphanet:284979] +subset: gard_rare {source="GARD:21128"} subset: ordo_disease {source="Orphanet:284979"} synonym: "neonatal MFS" EXACT [Orphanet:284979] +xref: GARD:21128 {source="Orphanet:284979"} xref: ICD10CM:Q87.4 {source="Orphanet:284979/attributed", source="Orphanet:284979/ntbt", source="Orphanet:284979"} xref: Orphanet:284979 {source="MONDO:equivalentTo"} xref: SCTID:763839005 {source="MONDO:equivalentTo"} @@ -337156,7 +350625,9 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0017310 name: Marfan and Marfan-related disorder subset: disease_grouping +subset: gard_rare {source="GARD:21129"} subset: ordo_group_of_disorders {source="Orphanet:284993"} +xref: GARD:21129 {source="Orphanet:284993"} xref: Orphanet:284993 {source="MONDO:equivalentTo"} xref: UMLS:CN227112 {source="MONDO:equivalentTo"} is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue @@ -337165,7 +350636,9 @@ is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditar id: MONDO:0017311 name: obsolete rare disease with thoracic aortic aneurysm and aortic dissection comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular disease' +subset: gard_rare {source="GARD:21130"} subset: ordo_group_of_disorders {source="Orphanet:285014"} +xref: GARD:21130 {source="MONDO:obsoleteEquivalent", source="Orphanet:285014"} xref: ICD10CM:I71.1 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} xref: ICD10CM:I71.2 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} xref: Orphanet:285014 {source="MONDO:obsoleteEquivalent"} @@ -337179,11 +350652,13 @@ consider: MONDO:0005385 id: MONDO:0017312 name: Perrault syndrome def: "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." [Orphanet:2855] +subset: gard_rare {source="GARD:2542"} subset: ordo_disease {source="Orphanet:2855"} synonym: "gonadal dysgenesis, XX type, with deafness" RELATED [GARD:0002542] synonym: "Perrault syndrome" EXACT CLINGEN_PREFERRED [] synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855] xref: DOID:0050857 {source="MONDO:equivalentTo"} +xref: GARD:2542 {source="Orphanet:2855"} xref: ICD10CM:Q87.8 {source="Orphanet:2855", source="Orphanet:2855/attributed", source="Orphanet:2855/ntbt"} xref: OMIMPS:233400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="MONDO:equivalentTo", source="DOID:0050857"} @@ -337201,7 +350676,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:233400"} ! inheri id: MONDO:0017313 name: disorder of folate metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:21131"} subset: ordo_group_of_disorders {source="Orphanet:285657"} +xref: GARD:21131 {source="Orphanet:285657"} xref: Orphanet:285657 {source="MONDO:equivalentTo"} xref: UMLS:CN227114 {source="MONDO:equivalentTo"} is_a: MONDO:0017758 {source="Orphanet:285657"} ! disorder of vitamin and non-protein cofactor absorption and transport @@ -337211,6 +350688,7 @@ id: MONDO:0017314 name: Ehlers-Danlos syndrome, vascular type def: "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." [Orphanet:286] subset: clingen +subset: gard_rare {source="GARD:2082"} subset: ordo_disease {source="Orphanet:286"} synonym: "EDS IV" EXACT [Orphanet:286] synonym: "EDS IV (formerly)" RELATED [GARD:0002082] @@ -337230,6 +350708,7 @@ synonym: "sack-Barabas syndrome" EXACT [Orphanet:286] synonym: "vascular EDS" RELATED [GARD:0002082] synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082] synonym: "vEDS" RELATED [GARD:0002082] +xref: GARD:2082 {source="Orphanet:286"} xref: ICD10CM:Q79.6 {source="Orphanet:286/attributed", source="Orphanet:286/ntbt", source="Orphanet:286"} xref: NCIT:C125699 {source="MONDO:equivalentTo"} xref: Orphanet:286 {source="MONDO:equivalentTo"} @@ -337243,11 +350722,13 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0017315 name: short stature-webbed neck-heart disease syndrome def: "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." [Orphanet:2865] +subset: gard_rare {source="GARD:583"} subset: ordo_malformation_syndrome {source="Orphanet:2865"} synonym: "Al Gazali Aziz Salem syndrome" RELATED [GARD:0000583] synonym: "Al Gazali-Aziz-Salem syndrome" EXACT [Orphanet:2865] synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" RELATED [GARD:0000583] synonym: "short stature, webbed neck, heart disease" RELATED [GARD:0000583] +xref: GARD:583 {source="Orphanet:2865"} xref: ICD10CM:Q87.8 {source="Orphanet:2865", source="Orphanet:2865/attributed", source="Orphanet:2865/ntbt"} xref: MESH:C535613 {source="MONDO:equivalentTo"} xref: Orphanet:2865 {source="MONDO:equivalentTo"} @@ -337262,10 +350743,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017316 name: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome def: "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." [Orphanet:2866] +subset: gard_rare {source="GARD:4841"} subset: ordo_malformation_syndrome {source="Orphanet:2866"} synonym: "short stature deafness neutrophil dysfunction" RELATED [GARD:0004841] synonym: "thong Douglas Ferrante syndrome" RELATED [GARD:0004841] synonym: "thong-Douglas-Ferrante syndrome" EXACT [Orphanet:2866] +xref: GARD:4841 {source="Orphanet:2866"} xref: ICD10CM:Q87.1 {source="Orphanet:2866", source="Orphanet:2866/attributed", source="Orphanet:2866/ntbt"} xref: Orphanet:2866 {source="MONDO:equivalentTo"} xref: SCTID:716192009 {source="MONDO:equivalentTo"} @@ -337275,9 +350758,11 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0017317 name: phakomatosis pigmentokeratotica def: "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." [Orphanet:2874] +subset: gard_rare {source="GARD:4311"} subset: ordo_malformation_syndrome {source="Orphanet:2874"} synonym: "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" RELATED [GARD:0004311] synonym: "Phacomatosis pigmentokeratotica" RELATED [GARD:0004311] +xref: GARD:4311 {source="Orphanet:2874"} xref: ICD10CM:Q85.8 {source="Orphanet:2874/attributed", source="Orphanet:2874/ntbt", source="Orphanet:2874"} xref: MESH:C537893 {source="Orphanet:2874", source="MONDO:equivalentTo", source="Orphanet:2874/e"} xref: Orphanet:2874 {source="MONDO:equivalentTo"} @@ -337294,12 +350779,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017318 name: phakomatosis pigmentovascularis +subset: gard_rare {source="GARD:4312"} subset: ordo_disease {source="Orphanet:2875"} synonym: "association of cutaneous vascular malformations and different pigmentary disorders" RELATED [GARD:0004312] synonym: "Phacomatosis pigmentovascularis" RELATED [GARD:0004312] synonym: "phakomatosis pigmentovascularis" EXACT [] synonym: "port-wine stain with oculocutaneous melanosis" EXACT [] synonym: "PPv" RELATED [GARD:0004312] +xref: GARD:4312 {source="Orphanet:2875"} xref: ICD10CM:Q85.8 {source="Orphanet:2875", source="Orphanet:2875/attributed", source="Orphanet:2875/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537894 {source="MONDO:equivalentTo"} @@ -337317,12 +350804,14 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0017319 name: hereditary elliptocytosis def: "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." [Orphanet:288] +subset: gard_rare {source="GARD:6621"} subset: ordo_disease {source="Orphanet:288"} synonym: "congenital elliptocytosis" EXACT [DOID:2373] synonym: "HE" EXACT [Orphanet:288] synonym: "hereditary ovalocytosis" EXACT [NCIT:C35882] synonym: "ovalocytosis" EXACT [DOID:2373] xref: DOID:2373 {source="MONDO:equivalentTo"} +xref: GARD:6621 {source="Orphanet:288"} xref: ICD10CM:D58.1 {source="Orphanet:288/specific", source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} xref: ICD9:282.1 {source="DOID:2373"} xref: MedDRA:10014490 {source="Orphanet:288/e", source="Orphanet:288"} @@ -337342,9 +350831,11 @@ is_a: MONDO:0003664 {source="Orphanet:288"} ! hemolytic anemia id: MONDO:0017320 name: phosphoenolpyruvate carboxykinase deficiency def: "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." [Orphanet:2880] +subset: gard_rare {source="GARD:16613"} subset: ordo_disease {source="Orphanet:2880"} synonym: "PEPCK deficiency" EXACT [Orphanet:2880] synonym: "phosphoenolpyruvate carboxykinase (GTP) deficiency" EXACT [NCIT:C99015] +xref: GARD:16613 {source="Orphanet:2880"} xref: ICD10CM:E74.4 {source="Orphanet:2880", source="Orphanet:2880/ntbt", source="Orphanet:2880/inclusion"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="Orphanet:2880/e"} @@ -337360,7 +350851,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017321 name: pili torti-onychodysplasia syndrome def: "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." [Orphanet:2890] +subset: gard_rare {source="GARD:4364"} subset: ordo_malformation_syndrome {source="Orphanet:2890"} +xref: GARD:4364 {source="Orphanet:2890"} xref: MESH:C537399 {source="Orphanet:2890/e", source="Orphanet:2890"} xref: Orphanet:2890 {source="MONDO:equivalentTo"} xref: UMLS:C2931483 {source="Orphanet:2890/e", source="MONDO:equivalentTo", source="Orphanet:2890"} @@ -337370,7 +350863,9 @@ is_a: MONDO:0019287 {source="Orphanet:2890"} ! ectodermal dysplasia syndrome id: MONDO:0017322 name: disorders of vitamin D metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21132"} subset: ordo_group_of_disorders {source="Orphanet:289098"} +xref: GARD:21132 {source="Orphanet:289098"} xref: Orphanet:289098 {source="MONDO:equivalentTo"} xref: UMLS:CN202954 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder @@ -337383,9 +350878,11 @@ id: MONDO:0017323 name: hypocalcemic rickets def: "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." [Orphanet:289103] subset: disease_grouping +subset: gard_rare {source="GARD:21133"} subset: ordo_group_of_disorders {source="Orphanet:289103"} synonym: "Calciopenic rickets" EXACT [NCIT:C131421] synonym: "calcium deficiency rickets" EXACT [NCIT:C131421] +xref: GARD:21133 {source="Orphanet:289103"} xref: NCIT:C131421 {source="MONDO:equivalentTo"} xref: Orphanet:289103 {source="MONDO:equivalentTo"} xref: SCTID:722947004 {source="MONDO:equivalentTo"} @@ -337399,12 +350896,14 @@ relationship: disease_has_feature HP:0002901 ! Hypocalcemia id: MONDO:0017324 name: autosomal recessive hypophosphatemic rickets def: "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [Orphanet:289176] +subset: gard_rare {source="GARD:17320"} subset: ordo_disease {source="Orphanet:289176"} synonym: "ARHR" EXACT ABBREVIATION [Orphanet:289176] synonym: "autosomal recessive hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "hereditary hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0050949 {source="MONDO:equivalentTo"} +xref: GARD:17320 {source="Orphanet:289176"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:289176/attributed", source="Orphanet:289176/ntbt", source="Orphanet:289176"} xref: Orphanet:289176 {source="MONDO:equivalentTo"} xref: SCTID:90505000 {source="MONDO:equivalentTo"} @@ -337420,8 +350919,10 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:289176"} ! Autosom id: MONDO:0017325 name: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation def: "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." [Orphanet:289266] +subset: gard_rare {source="GARD:21134"} subset: ordo_disease {source="Orphanet:289266"} synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_PREFERRED [] +xref: GARD:21134 {source="Orphanet:289266"} xref: ICD10CM:E72.1 {source="Orphanet:289266", source="Orphanet:289266/attributed", source="Orphanet:289266/ntbt"} xref: OMIM:613971 {source="Orphanet:289266", source="MONDO:equivalentObsolete", source="Orphanet:289266/e"} xref: Orphanet:289266 {source="MONDO:equivalentTo"} @@ -337434,12 +350935,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017326 name: infective dermatitis associated with HTLV-1 def: "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." [Orphanet:289347] +subset: gard_rare {source="GARD:21135"} subset: ordo_disease {source="Orphanet:289347"} synonym: "IDH" EXACT ABBREVIATION [Orphanet:289347] synonym: "IDH Gene family" EXACT [NCIT:C129260] synonym: "infective dermatitis associated with human T-lymphotropic virus type 1" EXACT [Orphanet:289347] synonym: "infective dermatitis associated with human T-lymphotropic virus type I" EXACT [Orphanet:289347] synonym: "isocitrate dehydrogenase Gene family" EXACT [NCIT:C129260] +xref: GARD:21135 {source="Orphanet:289347"} xref: ICD10CM:L30.3 {source="Orphanet:289347/ntbt", source="Orphanet:289347"} xref: NCIT:C129260 {source="MONDO:equivalentTo"} xref: Orphanet:289347 {source="MONDO:equivalentTo"} @@ -337452,9 +350955,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare id: MONDO:0017327 name: primary non-gestational choriocarcinoma of ovary def: "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism." [Orphanet:289356] +subset: gard_rare {source="GARD:21136"} subset: ordo_disease {source="Orphanet:289356"} synonym: "NGCO" EXACT ABBREVIATION [Orphanet:289356] synonym: "primary non-gestational ovarian choriocarcinoma" EXACT [Orphanet:289356] +xref: GARD:21136 {source="Orphanet:289356"} xref: ICD10CM:C56 {source="Orphanet:289356", source="Orphanet:289356/ntbt"} xref: Orphanet:289356 {source="MONDO:equivalentTo"} xref: SCTID:716588005 {source="MONDO:equivalentTo"} @@ -337465,8 +350970,10 @@ is_a: MONDO:0018171 {source="Orphanet:289356"} ! malignant germ cell tumor of ov [Term] id: MONDO:0017328 name: non-central nervous system-localized embryonal carcinoma +subset: gard_rare {source="GARD:21137"} subset: ordo_clinical_subtype {source="Orphanet:289362"} synonym: "non-CNS-localized embryonal carcinoma" EXACT [Orphanet:289362] +xref: GARD:21137 {source="Orphanet:289362"} xref: ICD10CM:C22.7 {source="Orphanet:289362/ntbt", source="Orphanet:289362"} xref: Orphanet:289362 {source="MONDO:equivalentTo"} xref: UMLS:CN202968 {source="MONDO:equivalentTo"} @@ -337476,9 +350983,11 @@ is_a: MONDO:0005440 {source="Orphanet:289362"} ! embryonal carcinoma id: MONDO:0017329 name: familial vesicoureteral reflux def: "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." [Orphanet:289365] +subset: gard_rare {source="GARD:17323"} subset: ordo_malformation_syndrome {source="Orphanet:289365"} synonym: "familial VUR" EXACT [Orphanet:289365] synonym: "hereditary vesicoureteral reflux (disease)" EXACT [MONDO:patterns/hereditary] +xref: GARD:17323 {source="Orphanet:289365"} xref: ICD10CM:N13.7 {source="Orphanet:289365", source="Orphanet:289365/attributed", source="Orphanet:289365/ntbt"} xref: OMIMPS:193000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:equivalentTo"} @@ -337494,8 +351003,10 @@ property_value: confidence "2.5986147714285717" xsd:double [Term] id: MONDO:0017330 name: malignancy diagnosed during pregnancy +subset: gard_rare {source="GARD:21138"} subset: ordo_clinical_situation {source="Orphanet:289385"} synonym: "cancer diagnosed during pregnancy" EXACT [Orphanet:289385] +xref: GARD:21138 {source="Orphanet:289385"} xref: Orphanet:289385 {source="MONDO:equivalentTo"} xref: UMLS:CN227116 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="Orphanet:289385"} ! pregnancy disorder @@ -337505,7 +351016,6 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare id: MONDO:0017331 name: Pilotto syndrome def: "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." [Orphanet:2894] -subset: gard_rare {source="GARD:0004368"} subset: ordo_malformation_syndrome {source="Orphanet:2894"} synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability" RELATED [GARD:0004368] synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" RELATED DEPRECATED [GARD:0004368] @@ -337518,9 +351028,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4368/pilotto [Term] id: MONDO:0017332 name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome +subset: gard_rare {source="GARD:21139"} subset: ordo_disease {source="Orphanet:289478"} synonym: "pash syndrome" EXACT [Orphanet:289478] xref: EFO:0009009 {source="MONDO:equivalentTo"} +xref: GARD:21139 {source="Orphanet:289478"} xref: Orphanet:289478 {source="MONDO:equivalentTo"} xref: UMLS:CN202977 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:289478/inferred", source="PMID:23827249"} ! autoinflammatory syndrome @@ -337529,8 +351041,10 @@ is_a: MONDO:0019751 {source="Orphanet:289478/inferred", source="PMID:23827249"} id: MONDO:0017333 name: obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: leukodystrophy +subset: gard_rare {source="GARD:21140"} subset: ordo_group_of_disorders {source="Orphanet:289494"} synonym: "Pol III-related leukodystrophy" RELATED [Orphanet:289494] +xref: GARD:21140 {source="MONDO:obsoleteEquivalent", source="Orphanet:289494"} xref: Orphanet:289494 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN168056 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -337542,10 +351056,12 @@ consider: MONDO:0019046 id: MONDO:0017334 name: 12q15q21.1 microdeletion syndrome def: "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." [Orphanet:289513] +subset: gard_rare {source="GARD:21141"} subset: ordo_malformation_syndrome {source="Orphanet:289513"} synonym: "Del(12)(q15)(q21.1)" EXACT [Orphanet:289513] synonym: "deletion 12q15q21.1" EXACT [Orphanet:289513] synonym: "monosomy 12q15q21.1" EXACT [Orphanet:289513] +xref: GARD:21141 {source="Orphanet:289513"} xref: ICD10CM:Q93.5 {source="Orphanet:289513", source="Orphanet:289513/attributed", source="Orphanet:289513/ntbt"} xref: Orphanet:289513 {source="MONDO:equivalentTo"} xref: SCTID:734030009 {source="MONDO:equivalentTo"} @@ -337561,8 +351077,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017335 name: microtriplication 11q24.1 def: "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." [Orphanet:289522] +subset: gard_rare {source="GARD:21142"} subset: ordo_malformation_syndrome {source="Orphanet:289522"} synonym: "tetrasomy 11q24.1" EXACT [Orphanet:289522] +xref: GARD:21142 {source="Orphanet:289522"} xref: ICD10CM:Q99.8 {source="Orphanet:289522/attributed", source="Orphanet:289522/ntbt", source="Orphanet:289522"} xref: Orphanet:289522 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:289522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -337587,7 +351105,9 @@ consider: MONDO:0100133 id: MONDO:0017337 name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency def: "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." [Orphanet:289548] +subset: gard_rare {source="GARD:21143"} subset: ordo_disease {source="Orphanet:289548"} +xref: GARD:21143 {source="Orphanet:289548"} xref: ICD10CM:E27.1 {source="Orphanet:289548", source="Orphanet:289548/attributed", source="Orphanet:289548/ntbt"} xref: Orphanet:289548 {source="MONDO:equivalentTo"} xref: SCTID:764960005 {source="MONDO:equivalentTo"} @@ -337600,11 +351120,13 @@ id: MONDO:0017338 name: fatal multiple mitochondrial dysfunctions syndrome def: "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." [Orphanet:289573] subset: disease_grouping +subset: gard_rare {source="GARD:12632"} subset: ordo_group_of_disorders {source="Orphanet:289573"} synonym: "fatal multiple mitochondrial dysfunction syndrome" RELATED [GARD:0012632] synonym: "MMDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "multiple mitochondrial dysfunctions syndrome" EXACT [Orphanet:289573] xref: DOID:0070330 {source="MONDO:equivalentTo"} +xref: GARD:12632 {source="Orphanet:289573"} xref: MESH:C565304 {source="MONDO:equivalentTo"} xref: OMIMPS:605711 {source="MONDO:equivalentTo"} xref: Orphanet:289573 {source="MONDO:equivalentTo"} @@ -337621,10 +351143,12 @@ id: MONDO:0017339 name: exfoliative ichthyosis def: "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." [Orphanet:289586] subset: clingen +subset: gard_rare {source="GARD:17329"} subset: ordo_disease {source="Orphanet:289586"} synonym: "autosomal recessive exfoliative ichthyosis" EXACT [Orphanet:289586] synonym: "exfoliative ichthyosis" EXACT CLINGEN_PREFERRED [] synonym: "ichthyosis exfoliativa" EXACT [Orphanet:289586] +xref: GARD:17329 {source="Orphanet:289586"} xref: ICD10CM:Q80.8 {source="Orphanet:289586/attributed", source="Orphanet:289586/ntbt", source="Orphanet:289586"} xref: Orphanet:289586 {source="MONDO:equivalentTo"} xref: UMLS:C1838440 {source="Orphanet:289586", source="MONDO:equivalentTo"} @@ -337634,12 +351158,14 @@ is_a: MONDO:0017265 {source="Orphanet:289586"} ! autosomal recessive congenital id: MONDO:0017340 name: juvenile nasopharyngeal angiofibroma def: "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." [Orphanet:289596] +subset: gard_rare {source="GARD:21144"} subset: ordo_disease {source="Orphanet:289596"} synonym: "JNA" EXACT ABBREVIATION [Orphanet:289596] synonym: "juvenile nasopharyngeal angiofibroma" EXACT [MONDO:ambiguous] synonym: "juvenile nasopharyngeal angiofibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nasopharyngeal angiofibroma" EXACT [NCIT:C27479] synonym: "nasopharyngeal juvenile angiofibroma" EXACT [NCIT:C27479] +xref: GARD:21144 {source="Orphanet:289596"} xref: HP:0030429 {source="MONDO:otherHierarchy"} xref: ICD10CM:D10.6 {source="Orphanet:289596", source="MONDO:relatedTo", source="Orphanet:289596/ntbt"} xref: NCIT:C27479 {source="MONDO:equivalentTo"} @@ -337655,7 +351181,9 @@ property_value: IAO:0000589 "juvenile nasopharyngeal angiofibroma (disease)" xsd id: MONDO:0017341 name: virus associated tumor subset: disease_grouping +subset: gard_rare {source="GARD:21145"} subset: ordo_group_of_disorders {source="Orphanet:289635"} +xref: GARD:21145 {source="Orphanet:289635"} xref: Orphanet:289635 {source="MONDO:equivalentTo"} xref: UMLS:CN203003 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="Orphanet:289635"} ! neoplasm @@ -337668,9 +351196,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017342 name: Epstein-Barr virus-related tumor subset: disease_grouping +subset: gard_rare {source="GARD:21146"} subset: ordo_group_of_disorders {source="Orphanet:289638"} synonym: "EBV-related tumor" EXACT [Orphanet:289638] synonym: "EBV-related tumour" EXACT OMO:0003005 [] +xref: GARD:21146 {source="Orphanet:289638"} xref: Orphanet:289638 {source="MONDO:equivalentTo"} xref: UMLS:CN203004 {source="MONDO:equivalentTo"} is_a: MONDO:0017341 {source="Orphanet:289638"} ! virus associated tumor @@ -337680,8 +351210,10 @@ id: MONDO:0017343 name: Epstein-Barr virus-associated malignant lymphoproliferative disorder comment: the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV subset: disease_grouping +subset: gard_rare {source="GARD:21147"} subset: ordo_group_of_disorders {source="Orphanet:289644"} synonym: "EBV-associated lymphoproliferative disorder" EXACT [Orphanet:289644] +xref: GARD:21147 {source="Orphanet:289644"} xref: MedDRA:10068349 {source="Orphanet:289644", source="Orphanet:289644/e"} xref: Orphanet:289644 {source="MONDO:equivalentTo"} xref: UMLS:C2363744 {source="Orphanet:289644", source="MONDO:equivalentTo", source="Orphanet:289644/e"} @@ -337691,8 +351223,10 @@ is_a: MONDO:0017342 {source="Orphanet:289644"} ! Epstein-Barr virus-related tumo id: MONDO:0017344 name: Epstein-Barr virus-associated carcinoma subset: disease_grouping +subset: gard_rare {source="GARD:21148"} subset: ordo_group_of_disorders {source="Orphanet:289651"} synonym: "EBV-associated carcinoma" EXACT [Orphanet:289651] +xref: GARD:21148 {source="Orphanet:289651"} xref: Orphanet:289651 {source="MONDO:equivalentTo"} is_a: MONDO:0017342 {source="Orphanet:289651"} ! Epstein-Barr virus-related tumor @@ -337700,9 +351234,11 @@ is_a: MONDO:0017342 {source="Orphanet:289651"} ! Epstein-Barr virus-related tumo id: MONDO:0017345 name: Epstein-Barr virus-associated mesenchymal tumor subset: disease_grouping +subset: gard_rare {source="GARD:21149"} subset: ordo_group_of_disorders {source="Orphanet:289656"} synonym: "EBV-associated mesenchymal tumor" EXACT [Orphanet:289656] synonym: "EBV-associated mesenchymal tumour" EXACT OMO:0003005 [] +xref: GARD:21149 {source="Orphanet:289656"} xref: Orphanet:289656 {source="MONDO:equivalentTo"} xref: UMLS:CN203006 {source="MONDO:equivalentTo"} is_a: MONDO:0017342 {source="Orphanet:289656"} ! Epstein-Barr virus-related tumor @@ -337711,6 +351247,7 @@ is_a: MONDO:0017342 {source="Orphanet:289656"} ! Epstein-Barr virus-related tumo id: MONDO:0017346 name: Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly def: "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." [Orphanet:289661] +subset: gard_rare {source="GARD:21150"} subset: ordo_disease {source="Orphanet:289661"} synonym: "age-related EBV Positive B-cell lymphoproliferative disorder" EXACT [NCIT:C80281] synonym: "EBV Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281] @@ -337722,6 +351259,7 @@ synonym: "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elder synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281] synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281] synonym: "Senile EBV-associated B-cell lymphoproliferative disorder" EXACT [NCIT:C80281] +xref: GARD:21150 {source="Orphanet:289661"} xref: ICD10CM:C83.3 {source="Orphanet:289661", source="Orphanet:289661/ntbt"} xref: ICDO:9680/3 {source="NCIT:C80281"} xref: NCIT:C80281 {source="MONDO:equivalentTo"} @@ -337735,12 +351273,13 @@ is_a: MONDO:0018905 {source="NCIT:C80281", source="Orphanet:289661"} ! diffuse l id: MONDO:0017347 name: plasmablastic lymphoma def: "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." [NCIT:P378] -subset: gard_rare {source="GARD:0012125"} +subset: gard_rare {source="GARD:12125"} subset: ordo_disease {source="Orphanet:289666"} synonym: "PBL" EXACT ABBREVIATION [Orphanet:289666] synonym: "Plasmablastic lymphoma" EXACT [NCIT:C7224] synonym: "PLBL" RELATED ABBREVIATION [ONCOTREE:PLBL] xref: DOID:0080779 {source="MONDO:equivalentTo"} +xref: GARD:12125 {source="Orphanet:289666"} xref: ICD10CM:C83.3 {source="Orphanet:289666/ntbt", source="Orphanet:289666"} xref: ICDO:9684/3 {source="NCIT:C7224"} xref: ICDO:9735/3 {source="NCIT:C7224"} @@ -337760,7 +351299,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12125/plasma id: MONDO:0017348 name: lymphoepithelial-like carcinoma def: "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ." [Orphanet:289682] +subset: gard_rare {source="GARD:21151"} subset: ordo_disease {source="Orphanet:289682"} +xref: GARD:21151 {source="Orphanet:289682"} xref: Orphanet:289682 {source="MONDO:equivalentTo"} is_a: MONDO:0017344 {source="Orphanet:289682"} ! Epstein-Barr virus-associated carcinoma @@ -337768,10 +351309,12 @@ is_a: MONDO:0017344 {source="Orphanet:289682"} ! Epstein-Barr virus-associated c id: MONDO:0017349 name: myopericytoma def: "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course." [NCIT:C50401] +subset: gard_rare {source="GARD:21152"} subset: ordo_disease {source="Orphanet:289685"} synonym: "hemangiopericytoma" RELATED [NCIT:C50401] synonym: "MPC" RELATED ABBREVIATION [ONCOTREE:MPC] synonym: "solitary myofibroma" EXACT [NCIT:C50401] +xref: GARD:21152 {source="Orphanet:289685"} xref: ICDO:8713/1 {source="NCIT:C50401"} xref: MESH:D000077777 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C50401 {source="MONDO:equivalentTo"} @@ -337786,11 +351329,13 @@ id: MONDO:0017350 name: inborn disorder of tryptophan metabolism def: "An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21154"} subset: ordo_group_of_disorders {source="Orphanet:289829"} synonym: "disorder of tryptophan metabolism" RELATED [Orphanet:289829] synonym: "inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn tryptophan metabolic process disorder" EXACT [] synonym: "rare inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21154 {source="Orphanet:289829"} xref: ICD10CM:E70.8 {source="Orphanet:289829/ntbt", source="Orphanet:289829/inclusion", source="Orphanet:289829"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:289829 {source="MONDO:equivalentTo"} @@ -337804,8 +351349,10 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006568 ! tryptophan meta id: MONDO:0017351 name: inborn disorder of lysine and hydroxylysine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21155"} subset: ordo_group_of_disorders {source="Orphanet:289832"} synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [Orphanet:289832] +xref: GARD:21155 {source="Orphanet:289832"} xref: ICD10CM:E72.3 {source="MONDO:equivalentTo", source="Orphanet:289832", source="Orphanet:289832/specific", source="Orphanet:289832/e"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -337818,7 +351365,9 @@ is_a: MONDO:0037938 {source="MONDO:cjm"} ! inborn disorder of aspartate family m id: MONDO:0017352 name: disorder of glutamine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21156"} subset: ordo_group_of_disorders {source="Orphanet:289841"} +xref: GARD:21156 {source="Orphanet:289841"} xref: ICD10CM:E72.8 {source="Orphanet:289841/ntbt", source="Orphanet:289841", source="Orphanet:289841/index"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:289841 {source="MONDO:equivalentTo"} @@ -337832,10 +351381,12 @@ intersection_of: disease_disrupts GO:0006541 ! glutamine metabolic process id: MONDO:0017353 name: neonatal glycine encephalopathy def: "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." [Orphanet:289857] +subset: gard_rare {source="GARD:17332"} subset: ordo_clinical_subtype {source="Orphanet:289857"} synonym: "classic glycine encephalopathy" EXACT [Orphanet:289857] synonym: "neonatal NKH" EXACT [Orphanet:289857] synonym: "neonatal non-ketotic hyperglycinemia" EXACT [Orphanet:289857] +xref: GARD:17332 {source="Orphanet:289857"} xref: ICD10CM:E72.5 {source="Orphanet:289857", source="Orphanet:289857/attributed", source="Orphanet:289857/ntbt"} xref: Orphanet:289857 {source="MONDO:equivalentTo"} xref: UMLS:C0751748 {source="Orphanet:289857"} @@ -337846,11 +351397,13 @@ property_value: confidence "1.0000000000000013" xsd:double id: MONDO:0017354 name: infantile glycine encephalopathy def: "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." [Orphanet:289860] +subset: gard_rare {source="GARD:17333"} subset: ordo_clinical_subtype {source="Orphanet:289860"} synonym: "glycine encephalopathy of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "infantile NKH" EXACT [Orphanet:289860] synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860] synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] +xref: GARD:17333 {source="Orphanet:289860"} xref: ICD10CM:E72.5 {source="Orphanet:289860", source="Orphanet:289860/attributed", source="Orphanet:289860/ntbt"} xref: Orphanet:289860 {source="MONDO:equivalentTo"} is_a: MONDO:0011612 {source="MONDO:Redundant", source="Orphanet:289860"} ! glycine encephalopathy @@ -337862,11 +351415,13 @@ id: MONDO:0017355 name: inborn disorder of proline metabolism def: "An inherited metabolic disease that is has its basis in the disruption of proline metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21157"} subset: ordo_group_of_disorders {source="Orphanet:289866"} synonym: "disorder of proline metabolism" EXACT [Orphanet:289866] synonym: "inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn proline metabolic process disorder" EXACT [] synonym: "rare inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21157 {source="Orphanet:289866"} xref: ICD10CM:E72.8 {source="Orphanet:289866", source="Orphanet:289866/attributed", source="Orphanet:289866/ntbt"} xref: Orphanet:289866 {source="MONDO:equivalentTo"} xref: UMLS:CN227118 {source="MONDO:equivalentTo"} @@ -337879,11 +351434,13 @@ id: MONDO:0017356 name: inborn disorder of ornithine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21158"} subset: ordo_group_of_disorders {source="Orphanet:289869"} synonym: "disorder of ornithine metabolism" EXACT [Orphanet:289869] synonym: "inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ornithine metabolic process disorder" EXACT [] synonym: "rare inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21158 {source="Orphanet:289869"} xref: ICD10CM:E72.4 {source="Orphanet:289869/e", source="Orphanet:289869/specific", source="Orphanet:289869"} xref: Orphanet:289869 {source="MONDO:equivalentTo"} xref: SCTID:237928008 {source="MONDO:equivalentTo"} @@ -337895,7 +351452,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006591 ! ornithine metab [Term] id: MONDO:0017357 name: transient hyperammonemia of the newborn +subset: gard_rare {source="GARD:21159"} subset: ordo_clinical_situation {source="Orphanet:289877"} +xref: GARD:21159 {source="Orphanet:289877"} xref: ICD10CM:P74.8 {source="Orphanet:289877", source="Orphanet:289877/ntbt"} xref: Orphanet:289877 {source="MONDO:equivalentTo"} xref: UMLS:CN203020 {source="MONDO:equivalentTo"} @@ -337914,8 +351473,10 @@ id: MONDO:0017359 name: 3-methylglutaconic aciduria def: "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." [NCIT:C98678] subset: disease_grouping +subset: gard_rare {source="GARD:12966"} subset: ordo_group_of_disorders {source="Orphanet:289902"} xref: DOID:0060336 {source="MONDO:equivalentTo"} +xref: GARD:12966 {source="Orphanet:289902"} xref: ICD10CM:E71.1 {source="DOID:0060336", source="Orphanet:289902/attributed", source="Orphanet:289902/ntbt", source="Orphanet:289902"} xref: ICD10CM:E71.111 {source="DOID:0060336", source="MONDO:equivalentTo"} xref: MESH:C579867 {source="DOID:0060336", source="MONDO:equivalentTo"} @@ -337932,9 +351493,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:250950"} ! inheri id: MONDO:0017360 name: vitamin B12-unresponsive methylmalonic acidemia type mut0 def: "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:289916] +subset: gard_rare {source="GARD:17335"} subset: ordo_clinical_subtype {source="Orphanet:289916"} synonym: "complete deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:289916] synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut0" EXACT [Orphanet:289916] +xref: GARD:17335 {source="Orphanet:289916"} xref: ICD10CM:E71.1 {source="Orphanet:289916/attributed", source="Orphanet:289916/ntbt", source="Orphanet:289916"} xref: Orphanet:289916 {source="MONDO:equivalentTo"} xref: SCTID:237945003 {source="MONDO:equivalentTo"} @@ -337949,6 +351512,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017361 name: congenital rubella syndrome def: "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." [Orphanet:290] +subset: gard_rare {source="GARD:4744"} subset: ordo_disease {source="Orphanet:290"} synonym: "congenital rubella" EXACT [MONDO:patterns/congenital] synonym: "congenital rubella syndrome" EXACT [NCIT:C34992] @@ -337959,6 +351523,7 @@ synonym: "mother-to-child transmission of rubella syndrome" EXACT [Orphanet:290] synonym: "rubella congenital" EXACT [GARD:0004744] xref: DOID:9228 {source="EFO:0007218", source="MONDO:obsolete"} xref: EFO:0007218 {source="MONDO:equivalentTo"} +xref: GARD:4744 {source="Orphanet:290"} xref: ICD10CM:P35.0 {source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} xref: ICD9:771.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010618 {source="Orphanet:290", source="Orphanet:290/e"} @@ -337979,12 +351544,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017362 name: neuralgic amyotrophy def: "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." [Orphanet:2901] +subset: gard_rare {source="GARD:4228"} subset: ordo_disease {source="Orphanet:2901"} synonym: "acute brachial plexus neuritis" EXACT [Orphanet:2901] synonym: "brachial plexus neuritis" BROAD [Orphanet:2901] synonym: "immune brachial plexus neuropathy" EXACT [Orphanet:2901] synonym: "mononeuritis multiplex with brachial predilection" EXACT [Orphanet:2901] synonym: "neuralgic shoulder amyotrophy" EXACT [Orphanet:2901] +xref: GARD:4228 {source="Orphanet:2901"} xref: ICD10CM:G54.5 {source="Orphanet:2901/ntbt", source="Orphanet:2901"} xref: MedDRA:10063020 {source="Orphanet:2901/e", source="Orphanet:2901"} xref: Orphanet:2901 {source="MONDO:equivalentTo"} @@ -337996,7 +351563,7 @@ is_a: MONDO:0015923 {source="Orphanet:2901"} ! acquired peripheral neuropathy id: MONDO:0017363 name: idiopathic chronic eosinophilic pneumonia def: "A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2902] -subset: gard_rare +subset: gard_rare {source="GARD:1130"} subset: ordo_disease {source="Orphanet:2902"} synonym: "Carrington syndrome" RELATED [GARD:0001130] synonym: "Carrington's disease" RELATED [GARD:0001130] @@ -338005,6 +351572,7 @@ synonym: "chronic eosinophilic pneumonia" BROAD [Orphanet:2902] synonym: "chronic eosinophilic pneumonia (CEP)" RELATED [GARD:0001130] synonym: "chronic idiopathic eosinophilic pneumonia" RELATED [GARD:0001130] synonym: "eosinophilic idiopathic chronic pneumopathy" RELATED [GARD:0001130] +xref: GARD:1130 {source="Orphanet:2902"} xref: ICD10CM:J82 {source="Orphanet:2902", source="Orphanet:2902/ntbt"} xref: MESH:C535590 {source="MONDO:equivalentTo"} xref: Orphanet:2902 {source="MONDO:equivalentTo"} @@ -338020,6 +351588,7 @@ id: MONDO:0017364 name: POEMS syndrome def: "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." [Orphanet:2905, PMID:23398538] comment: POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. {source="https://www.jacionline.org/article/S0091-6749(02)91343-6/fulltext"} +subset: gard_rare {source="GARD:7411"} subset: ordo_disease {source="Orphanet:2905"} synonym: "Crow-Fukase syndrome" EXACT [Orphanet:2905] synonym: "osteosclerotic myeloma" EXACT [Orphanet:2905] @@ -338031,6 +351600,7 @@ synonym: "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" EXACT [O synonym: "Takatsuki syndrome" EXACT [Orphanet:2905] xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"} xref: EFO:1001115 {source="MONDO:equivalentTo"} +xref: GARD:7411 {source="Orphanet:2905"} xref: MedDRA:10053869 {source="Orphanet:2905/e", source="EFO:1001115", source="Orphanet:2905"} xref: MESH:D016878 {source="Orphanet:2905/e", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039", source="Orphanet:2905"} xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="MONDO:exact-label-match", source="DOID:14039"} @@ -338048,8 +351618,10 @@ relationship: excluded_subClassOf MONDO:0002459 {source="DOID:14039"} ! type IV [Term] id: MONDO:0017365 name: hereditary acrokeratotic poikiloderma, Weary type +subset: gard_rare {source="GARD:18781"} subset: ordo_clinical_subtype {source="Orphanet:2907"} synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907] +xref: GARD:18781 {source="Orphanet:2907"} xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="Orphanet:2907/attributed", source="Orphanet:2907/ntbt"} xref: Orphanet:2907 {source="MONDO:equivalentTo"} xref: UMLS:C0406556 {source="Orphanet:2907", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2907/e"} @@ -338061,12 +351633,13 @@ id: MONDO:0017366 name: hereditary pheochromocytoma-paraganglioma def: "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." [Orphanet:29072] subset: clingen -subset: gard_rare {source="GARD:0011984"} +subset: gard_rare {source="GARD:11984"} subset: ordo_disease {source="Orphanet:29072"} synonym: "familial pheochromocytoma-paraganglioma" EXACT [Orphanet:29072] synonym: "hereditary paraganglioma-pheochromocytoma" RELATED [GARD:0011984] synonym: "hereditary pheochromocytoma-paraganglioma" EXACT CLINGEN_PREFERRED [] synonym: "SDHx-related paraganglioma-pheochromocytoma" RELATED [GARD:0011984] +xref: GARD:11984 {source="Orphanet:29072"} xref: ICD10CM:C74.1 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} xref: ICD10CM:C75.5 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} xref: ICD10CM:D35.0 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} @@ -338088,7 +351661,9 @@ id: MONDO:0017368 name: obsolete systemic disease with skin involvement comment: This is a grouping class that is considered out of scope. subset: disease_grouping +subset: gard_rare {source="GARD:21160"} subset: ordo_group_of_disorders {source="Orphanet:290836"} +xref: GARD:21160 {source="MONDO:obsoleteEquivalent", source="Orphanet:290836"} xref: Orphanet:290836 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -338100,7 +351675,9 @@ consider: MONDO:0005093 id: MONDO:0017369 name: obsolete autoinflammatory syndrome with immune deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' +subset: gard_rare {source="GARD:21161"} subset: ordo_group_of_disorders {source="Orphanet:290839"} +xref: GARD:21161 {source="MONDO:obsoleteEquivalent", source="Orphanet:290839"} xref: Orphanet:290839 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203042 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -338112,7 +351689,9 @@ consider: MONDO:0019751 id: MONDO:0017370 name: obsolete autoinflammatory syndrome with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' +subset: gard_rare {source="GARD:21162"} subset: ordo_group_of_disorders {source="Orphanet:290842"} +xref: GARD:21162 {source="MONDO:obsoleteEquivalent", source="Orphanet:290842"} xref: Orphanet:290842 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -338125,9 +351704,11 @@ id: MONDO:0017371 name: obsolete rare head and neck tumor def: "OBSOLETE. Rare head and neck neoplasia." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21163"} subset: ordo_group_of_disorders {source="Orphanet:290849"} synonym: "rare head and neck neoplasia" EXACT [MONDO:patterns/rare] synonym: "rare head and neck neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:21163 {source="MONDO:obsoleteEquivalent", source="Orphanet:290849"} xref: Orphanet:290849 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0018671 {source="MONDO:relatedTo", source="Orphanet:290849"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -338138,7 +351719,7 @@ replaced_by: MONDO:0005586 id: MONDO:0017372 name: congenital varicella syndrome def: "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." [Orphanet:291] -subset: gard_rare {source="GARD:0000045"} +subset: gard_rare {source="GARD:45"} subset: ordo_disease {source="Orphanet:291"} synonym: "antenatal varicella virus infection" EXACT [Orphanet:291] synonym: "fetal effects of chickenpox" RELATED [GARD:0000045] @@ -338152,6 +351733,7 @@ synonym: "foetal varicella zoster syndrome" RELATED OMO:0003005 [] synonym: "mother-to-child transmission of varicella syndrome" EXACT [Orphanet:291] synonym: "Varicella embryopathy" RELATED [GARD:0000045] synonym: "Varicella virus antenatal infection" RELATED [GARD:0000045] +xref: GARD:45 {source="Orphanet:291"} xref: ICD10CM:P35.8 {source="Orphanet:291", source="Orphanet:291/e"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116800 {source="MONDO:equivalentTo"} @@ -338170,6 +351752,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/45/congenita id: MONDO:0017373 name: poliomyelitis def: "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." [NCIT:C35550] +subset: gard_rare {source="GARD:7413"} subset: ordo_disease {source="Orphanet:2912"} synonym: "acute poliomyelitis" EXACT [MONDO:cjm, NCIT:C35550] synonym: "infantile paralysis" RELATED [GARD:0007413] @@ -338178,6 +351761,7 @@ synonym: "polio" EXACT [MESH:D011051, NCIT:C35550] synonym: "poliomyelitis" EXACT [MONDO:0005926, NCIT:C35550] xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"} xref: EFO:0007450 {source="MONDO:equivalentTo"} +xref: GARD:7413 {source="Orphanet:2912"} xref: ICD10CM:A80 {source="DOID:4953"} xref: ICD10CM:A80.0 {source="Orphanet:2912/btnt", source="Orphanet:2912"} xref: ICD10CM:A80.1 {source="Orphanet:2912/btnt", source="Orphanet:2912"} @@ -338228,12 +351812,14 @@ replaced_by: MONDO:0011348 id: MONDO:0017375 name: congenital enterovirus infection def: "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." [Orphanet:292] +subset: gard_rare {source="GARD:2130"} subset: ordo_disease {source="Orphanet:292"} synonym: "antenatal enterovirus infection" EXACT [Orphanet:292] synonym: "congenital enterovirus infection" EXACT [] synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern, MONDO:patterns/congenital] synonym: "congenital infection caused by enterovirus" EXACT [] synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292] +xref: GARD:2130 {source="Orphanet:292"} xref: ICD10CM:P35.8 {source="Orphanet:292", source="Orphanet:292/ntbt"} xref: Orphanet:292 {source="MONDO:equivalentTo"} xref: SCTID:716865000 {source="MONDO:equivalentTo"} @@ -338246,7 +351832,7 @@ intersection_of: has_characteristic MONDO:0021140 ! congenital id: MONDO:0017376 name: reactive arthritis def: "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." [Orphanet:29207] -subset: gard_rare {source="GARD:0005693"} +subset: gard_rare {source="GARD:5693"} subset: ordo_disease {source="Orphanet:29207"} synonym: "arthritis urethritica" EXACT [Orphanet:29207] synonym: "Fiessinger Leroy Reiter syndrome" EXACT DEPRECATED [DOID:6196] @@ -338266,6 +351852,7 @@ synonym: "Reiter's syndrome" EXACT DEPRECATED [GARD:0005693] synonym: "venereal arthritis" EXACT [Orphanet:29207] xref: DOID:6196 {source="MONDO:equivalentTo", source="EFO:0007460"} xref: EFO:0007460 {source="MONDO:equivalentTo"} +xref: GARD:5693 {source="Orphanet:29207"} xref: ICD10CM:M02.1 {source="DOID:6196"} xref: ICD10CM:M02.10 {source="DOID:6196"} xref: ICD10CM:M02.3 {source="DOID:6196", source="Orphanet:29207"} @@ -338302,11 +351889,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5693/reactiv id: MONDO:0017377 name: preaxial polydactyly-colobomata-intellectual disability syndrome def: "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." [Orphanet:2921] +subset: gard_rare {source="GARD:4304"} subset: ordo_malformation_syndrome {source="Orphanet:2921"} synonym: "Pfeiffer Mayer syndrome" RELATED [GARD:0004304] synonym: "Pfeiffer-Mayer syndrome" EXACT [Orphanet:2921] synonym: "short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities" RELATED [GARD:0004304] synonym: "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" RELATED DEPRECATED [GARD:0004304] +xref: GARD:4304 {source="Orphanet:2921"} xref: ICD10CM:Q87.2 {source="Orphanet:2921", source="Orphanet:2921/attributed", source="Orphanet:2921/ntbt"} xref: MESH:C537888 {source="MONDO:equivalentTo"} xref: Orphanet:2921 {source="MONDO:equivalentTo"} @@ -338332,11 +351921,13 @@ id: MONDO:0017379 name: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome def: "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." [Orphanet:2928] comment: Editor note: awaiting HPO +subset: gard_rare {source="GARD:4424"} subset: ordo_malformation_syndrome {source="Orphanet:2928"} synonym: "Lundberg syndrome" EXACT [Orphanet:2928] synonym: "polyneuropathy - intellectual deficit - acromicria - premature menopause" RELATED [GARD:0004424] synonym: "polyneuropathy intellectual disability acromicria premature menopause" RELATED [GARD:0004424] synonym: "polyneuropathy mental retardation acromicria premature menopause" RELATED DEPRECATED [GARD:0004424] +xref: GARD:4424 {source="Orphanet:2928"} xref: ICD10CM:Q87.8 {source="Orphanet:2928/attributed", source="Orphanet:2928/ntbt", source="Orphanet:2928"} xref: Orphanet:2928 {source="MONDO:equivalentTo"} xref: UMLS:CN203094 {source="MONDO:equivalentTo"} @@ -338350,6 +351941,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017380 name: juvenile polyposis syndrome def: "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." [Orphanet:2929] +subset: gard_rare {source="GARD:3065"} subset: ordo_disease {source="Orphanet:2929"} synonym: "JIP" EXACT ABBREVIATION [Orphanet:2929] synonym: "jPS" EXACT [Orphanet:2929] @@ -338362,6 +351954,7 @@ synonym: "PJI" RELATED ABBREVIATION [GARD:0003065] synonym: "polyposis familial of entire gastrointestinal tract" RELATED [GARD:0003065] synonym: "polyposis juvenile intestinal" RELATED [GARD:0003065] synonym: "polyposis, juvenile intestinal" EXACT [OMIM:174900, OMIM:genemap2] +xref: GARD:3065 {source="Orphanet:2929"} xref: ICD10CM:D12.6 {source="Orphanet:2929", source="Orphanet:2929/attributed", source="Orphanet:2929/ntbt"} xref: NCIT:C7754 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: OMIM:174900 {source="Orphanet:2929", source="Orphanet:2929/btnt", source="MONDO:equivalentTo"} @@ -338382,7 +351975,7 @@ id: MONDO:0017381 name: congenital herpes simplex virus infection alt_id: MONDO:0022267 def: "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent." [Orphanet:293] -subset: gard_rare +subset: gard_rare {source="GARD:18687"} subset: ordo_disease {source="Orphanet:293"} synonym: "antenatal herpes simplex virus infection" EXACT [Orphanet:293] synonym: "congenital herpes simplex" EXACT [] @@ -338393,6 +351986,7 @@ synonym: "neonatal herpes simplex virus infection" RELATED [GARD:0007173] synonym: "neonatal HSV infection" RELATED [GARD:0007173] synonym: "Simplexvirus caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus infectious embryofetopathy" EXACT [] +xref: GARD:18687 {source="Orphanet:293"} xref: ICD10CM:P35.2 {source="Orphanet:293", source="Orphanet:293/ntbt"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:293 {source="MONDO:equivalentTo"} @@ -338411,8 +352005,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1486/congeni [Term] id: MONDO:0017382 name: familial clubfoot due to 5q31 microdeletion +subset: gard_rare {source="GARD:17336"} subset: ordo_etiological_subtype {source="Orphanet:293144"} synonym: "hereditary clubfoot due to 5q31 microdeletion" EXACT [Orphanet:293144] +xref: GARD:17336 {source="Orphanet:293144"} xref: ICD10CM:Q66.8 {source="Orphanet:293144", source="Orphanet:293144/attributed", source="Orphanet:293144/ntbt"} xref: Orphanet:293144 {source="MONDO:equivalentTo"} xref: UMLS:CN203109 {source="MONDO:equivalentTo"} @@ -338422,8 +352018,10 @@ property_value: confidence "5.6000000000000005" xsd:double [Term] id: MONDO:0017383 name: familial clubfoot due to PITX1 point mutation +subset: gard_rare {source="GARD:17337"} subset: ordo_etiological_subtype {source="Orphanet:293150"} synonym: "hereditary clubfoot due to PITX1 point mutation" EXACT [Orphanet:293150] +xref: GARD:17337 {source="Orphanet:293150"} xref: ICD10CM:Q66.8 {source="Orphanet:293150/attributed", source="Orphanet:293150/ntbt", source="Orphanet:293150"} xref: Orphanet:293150 {source="MONDO:equivalentTo"} xref: UMLS:CN203110 {source="MONDO:equivalentTo"} @@ -338435,10 +352033,12 @@ property_value: confidence "5.6000000000000005" xsd:double id: MONDO:0017384 name: acute generalized exanthematous pustulosis def: "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." [NCIT:P378] +subset: gard_rare {source="GARD:21164"} subset: ordo_disease {source="Orphanet:293173"} synonym: "AGEP" EXACT ABBREVIATION [Orphanet:293173] synonym: "pustular drug eruption" EXACT [Orphanet:293173] synonym: "toxic pustuloderma" EXACT [Orphanet:293173] +xref: GARD:21164 {source="Orphanet:293173"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048799 {source="Orphanet:293173", source="Orphanet:293173/e"} xref: MESH:D056150 {source="MONDO:equivalentTo"} @@ -338455,6 +352055,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0017385 name: malignant migrating partial seizures of infancy def: "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." [NCIT:C125387] +subset: gard_rare {source="GARD:12919"} subset: ordo_disease {source="Orphanet:293181"} synonym: "malignant migrating partial epilepsy of infancy" EXACT [Orphanet:293181] synonym: "malignant migrating Partial seizures in infancy" EXACT [NCIT:C125387] @@ -338465,6 +352066,7 @@ synonym: "MMPEI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MMPSI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MPEI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MPSI" BROAD ABBREVIATION [Orphanet:293181] +xref: GARD:12919 {source="Orphanet:293181"} xref: NCIT:C125387 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="MONDO:equivalentTo"} xref: UMLS:CN203114 {source="MONDO:equivalentTo"} @@ -338476,11 +352078,13 @@ relationship: has_characteristic HP:0003623 {source="NCIT:C125387"} ! Neonatal o id: MONDO:0017386 name: pleomorphic rhabdomyosarcoma def: "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." [NCIT:C4258] +subset: gard_rare {source="GARD:21165"} subset: ordo_disease {source="Orphanet:293199"} synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258] synonym: "pleomorphic rhabdomyosarcoma" EXACT [NCIT:C4258] synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [DOID:3250] xref: DOID:3250 {source="MONDO:equivalentTo"} +xref: GARD:21165 {source="Orphanet:293199"} xref: ICD10CM:C49.9 {source="Orphanet:293199", source="Orphanet:293199/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4258 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3250"} @@ -338495,12 +352099,13 @@ is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:P id: MONDO:0017387 name: epithelioid sarcoma def: "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." [NCIT:C3714] -subset: gard_rare {source="GARD:0010181"} +subset: gard_rare {source="GARD:10181"} subset: ordo_disease {source="Orphanet:293202"} synonym: "epithelioid cell sarcoma" EXACT [DOID:6193, NCIT:C3714] synonym: "epithelioid sarcoma" EXACT [NCIT:C3714] synonym: "ES" EXACT ABBREVIATION [NCIT:C3714] xref: DOID:6193 {source="MONDO:equivalentTo"} +xref: GARD:10181 {source="Orphanet:293202"} xref: ICD10CM:C49.9 {source="Orphanet:293202/ntbt", source="Orphanet:293202"} xref: ICDO:8804/3 {source="NCIT:C3714"} xref: MedDRA:10015099 {source="Orphanet:293202/e", source="Orphanet:293202"} @@ -338517,8 +352122,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10181/epithe id: MONDO:0017388 name: celiac trunk compression syndrome def: "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation." [Orphanet:293208] +subset: gard_rare {source="GARD:12308"} subset: ordo_disease {source="Orphanet:293208"} synonym: "Dunbar syndrome" EXACT [Orphanet:293208] +xref: GARD:12308 {source="Orphanet:293208"} xref: ICD10CM:I77.4 {source="Orphanet:293208", source="Orphanet:293208/e"} xref: Orphanet:293208 {source="MONDO:equivalentTo"} xref: UMLS:CN203119 {source="MONDO:equivalentTo"} @@ -338531,10 +352138,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare id: MONDO:0017389 name: tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria def: "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." [Orphanet:293284] +subset: gard_rare {source="GARD:21166"} subset: ordo_clinical_subtype {source="Orphanet:293284"} synonym: "BH4-responsive HPA/PKU" EXACT [Orphanet:293284] synonym: "BH4-responsive hyperphenylalaninemia/phenylketonuria" EXACT [Orphanet:293284] synonym: "tetrahydrobiopterin-responsive HPA/PKU" EXACT [Orphanet:293284] +xref: GARD:21166 {source="Orphanet:293284"} xref: ICD10CM:E70.1 {source="Orphanet:293284/attributed", source="Orphanet:293284/ntbt", source="Orphanet:293284"} xref: Orphanet:293284 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:293284"} ! phenylketonuria @@ -338546,9 +352155,11 @@ id: MONDO:0017390 name: obsolete methylmalonic acidemia without homocystinuria def: "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." [Orphanet:293355] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: methylmalonic acidemia' +subset: gard_rare {source="GARD:13163"} subset: ordo_group_of_disorders {source="Orphanet:293355"} synonym: "methylmalonic acidemia without homocystinuria" EXACT CLINGEN_PREFERRED [] synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355] +xref: GARD:13163 {source="MONDO:obsoleteEquivalent", source="Orphanet:293355"} xref: ICD10CM:E71.1 {source="Orphanet:293355", source="Orphanet:293355/attributed", source="Orphanet:293355/ntbt"} xref: Orphanet:293355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -338560,8 +352171,10 @@ consider: MONDO:0002012 id: MONDO:0017391 name: Grayson-Wilbrandt corneal dystrophy def: "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." [Orphanet:293375] +subset: gard_rare {source="GARD:21167"} subset: ordo_disease {source="Orphanet:293375"} synonym: "GWCD" EXACT ABBREVIATION [Orphanet:293375] +xref: GARD:21167 {source="Orphanet:293375"} xref: ICD10CM:H18.5 {source="Orphanet:293375", source="Orphanet:293375/attributed", source="Orphanet:293375/ntbt"} xref: Orphanet:293375 {source="MONDO:equivalentTo"} xref: SCTID:717286002 {source="MONDO:equivalentTo"} @@ -338572,8 +352185,10 @@ relationship: disease_has_location UBERON:0004370 ! anterior limiting lamina of id: MONDO:0017392 name: pre-descemet corneal dystrophy def: "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." [Orphanet:293462] +subset: gard_rare {source="GARD:21168"} subset: ordo_disease {source="Orphanet:293462"} synonym: "PDCD" EXACT ABBREVIATION [Orphanet:293462] +xref: GARD:21168 {source="Orphanet:293462"} xref: ICD10CM:H18.5 {source="Orphanet:293462", source="Orphanet:293462/attributed", source="Orphanet:293462/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:293462 {source="MONDO:equivalentTo"} @@ -338585,6 +352200,7 @@ is_a: MONDO:0020213 {source="Orphanet:293462"} ! stromal corneal dystrophy id: MONDO:0017393 name: blepharophimosis - intellectual disability syndrome subset: disease_grouping +subset: gard_rare {source="GARD:10892"} subset: ordo_group_of_disorders {source="Orphanet:293642"} synonym: "blepharophimosis intellectual disability syndromes" RELATED [GARD:0010892] synonym: "blepharophimosis mental retardation syndromes" RELATED DEPRECATED [GARD:0010892] @@ -338593,6 +352209,7 @@ synonym: "BMRS" EXACT ABBREVIATION [Orphanet:293642] synonym: "Say Barber Biesecker Young-Simpson syndrome" RELATED [GARD:0010892] synonym: "SBBYS syndrome" RELATED [GARD:0010892] synonym: "Young Simpson syndrome" RELATED [GARD:0010892] +xref: GARD:10892 {source="Orphanet:293642"} xref: Orphanet:293642 {source="MONDO:equivalentTo"} xref: UMLS:CN203134 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:293642"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -338604,7 +352221,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017394 name: ketamine-induced biliary dilatation def: "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." [Orphanet:293807] +subset: gard_rare {source="GARD:21169"} subset: ordo_clinical_situation {source="Orphanet:293807"} +xref: GARD:21169 {source="Orphanet:293807"} xref: Orphanet:293807 {source="MONDO:equivalentTo"} xref: SCTID:726613003 {source="MONDO:equivalentTo"} xref: UMLS:C4512018 {source="MONDO:equivalentTo"} @@ -338616,8 +352235,10 @@ relationship: realized_in_response_to_stimulus CHEBI:6121 ! ketamine [Term] id: MONDO:0017395 name: fixed pigmented erythema +subset: gard_rare {source="GARD:21170"} subset: ordo_disease {source="Orphanet:293812"} synonym: "fixed drug eruption" EXACT [Orphanet:293812, PMID:9431719] +xref: GARD:21170 {source="Orphanet:293812"} xref: MedDRA:10048796 {source="Orphanet:293812/e", source="Orphanet:293812"} xref: Orphanet:293812 {source="MONDO:equivalentTo"} xref: SCTID:73692007 {source="MONDO:equivalentTo"} @@ -338629,7 +352250,9 @@ relationship: disease_has_feature HP:0010783 ! Erythema id: MONDO:0017396 name: toxic dermatosis subset: disease_grouping +subset: gard_rare {source="GARD:21171"} subset: ordo_group_of_disorders {source="Orphanet:293815"} +xref: GARD:21171 {source="Orphanet:293815"} xref: Orphanet:293815 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 ! skin disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare @@ -338637,6 +352260,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare [Term] id: MONDO:0017397 name: obsolete constitutional dyserythropoietic anemia +subset: gard_rare {source="GARD:21172"} +xref: GARD:21172 {source="MONDO:obsoleteEquivalent", source="Orphanet:293830"} xref: ICD10CM:D64.4 {source="Orphanet:293830", source="Orphanet:293830/attributed", source="Orphanet:293830/ntbt"} xref: Orphanet:293830 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -338648,12 +352273,13 @@ is_obsolete: true id: MONDO:0017398 name: 3MC syndrome def: "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." [Orphanet:293843] -subset: gard_rare {source="GARD:0001118"} +subset: gard_rare {source="GARD:1118"} subset: ordo_malformation_syndrome {source="Orphanet:293843"} synonym: "craniofacial-ulnar-renal syndrome" EXACT [DOID:0060225, Orphanet:293843] synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [Orphanet:293843] synonym: "oculopalatoskeletal syndrome" EXACT [DOID:0060225] xref: DOID:0060225 {source="MONDO:equivalentTo"} +xref: GARD:1118 {source="Orphanet:293843"} xref: ICD10CM:Q87.8 {source="DOID:0060225", source="Orphanet:293843/attributed", source="Orphanet:293843/ntbt", source="Orphanet:293843"} xref: OMIMPS:257920 {source="MONDO:equivalentTo", source="DOID:0060225"} xref: Orphanet:293843 {source="MONDO:equivalentTo", source="DOID:0060225"} @@ -338684,12 +352310,14 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0017400 name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome def: "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." [Orphanet:293864] +subset: gard_rare {source="GARD:5237"} subset: ordo_malformation_syndrome {source="Orphanet:293864"} synonym: "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" RELATED [OMIM:615710] synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" EXACT CLINGEN_PREFERRED [] synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [Orphanet:293864] synonym: "Mitchell-Riley syndrome" EXACT [MONDO:Lexical, OMIM:615710] synonym: "MTCHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615710] +xref: GARD:5237 {source="Orphanet:293864"} xref: ICD10CM:Q45.8 {source="Orphanet:293864/attributed", source="Orphanet:293864/ntbt", source="Orphanet:293864"} xref: OMIM:615710 {source="MONDO:equivalentTo", source="Orphanet:293864/btnt", source="Orphanet:293864"} xref: Orphanet:293864 {source="OMIM:615710", source="MONDO:equivalentTo"} @@ -338703,8 +352331,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017401 name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form +subset: gard_rare {source="GARD:17345"} subset: ordo_clinical_subtype {source="Orphanet:293888"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [Orphanet:293888] +xref: GARD:17345 {source="Orphanet:293888"} xref: ICD10CM:I42.8 {source="Orphanet:293888/attributed", source="Orphanet:293888/ntbt", source="Orphanet:293888"} xref: Orphanet:293888 {source="MONDO:equivalentTo"} xref: UMLS:CN203145 {source="MONDO:equivalentTo"} @@ -338713,8 +352343,10 @@ is_a: MONDO:0016342 {source="Orphanet:293888"} ! familial isolated arrhythmogeni [Term] id: MONDO:0017402 name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form +subset: gard_rare {source="GARD:17346"} subset: ordo_clinical_subtype {source="Orphanet:293899"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [Orphanet:293899] +xref: GARD:17346 {source="Orphanet:293899"} xref: ICD10CM:I42.8 {source="Orphanet:293899/attributed", source="Orphanet:293899/ntbt", source="Orphanet:293899"} xref: Orphanet:293899 {source="MONDO:equivalentTo"} xref: UMLS:CN203146 {source="MONDO:equivalentTo"} @@ -338723,10 +352355,12 @@ is_a: MONDO:0016342 {source="Orphanet:293899"} ! familial isolated arrhythmogeni [Term] id: MONDO:0017403 name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form +subset: gard_rare {source="GARD:17347"} subset: ordo_clinical_subtype {source="Orphanet:293910"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [Orphanet:293910] synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [Orphanet:293910] synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [Orphanet:293910] +xref: GARD:17347 {source="Orphanet:293910"} xref: ICD10CM:I42.8 {source="Orphanet:293910/attributed", source="Orphanet:293910/ntbt", source="Orphanet:293910"} xref: Orphanet:293910 {source="MONDO:equivalentTo"} xref: UMLS:CN203147 {source="MONDO:equivalentTo"} @@ -338736,11 +352370,13 @@ is_a: MONDO:0016342 {source="Orphanet:293910"} ! familial isolated arrhythmogeni id: MONDO:0017404 name: distal Xq28 microduplication syndrome def: "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." [Orphanet:293939] +subset: gard_rare {source="GARD:17350"} subset: ordo_malformation_syndrome {source="Orphanet:293939"} synonym: "distal dup(X)q(28)" EXACT [Orphanet:293939] synonym: "distal trisomy Xq28" EXACT [Orphanet:293939] synonym: "Xq28 Microduplication" EXACT [DECIPHER:88] xref: DECIPHER:88 {source="MONDO:equivalentTo"} +xref: GARD:17350 {source="Orphanet:293939"} xref: ICD10CM:Q99.8 {source="Orphanet:293939/attributed", source="Orphanet:293939/ntbt", source="Orphanet:293939"} xref: Orphanet:293939 {source="MONDO:equivalentTo"} xref: UMLS:CN203151 {source="MONDO:equivalentTo"} @@ -338757,9 +352393,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017405 name: 1p21.3 microdeletion syndrome def: "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." [Orphanet:293948] +subset: gard_rare {source="GARD:21173"} subset: ordo_malformation_syndrome {source="Orphanet:293948"} synonym: "Del(1)p(21.3)" EXACT [Orphanet:293948] synonym: "monosomy 1p21.3" EXACT [Orphanet:293948] +xref: GARD:21173 {source="Orphanet:293948"} xref: ICD10CM:Q93.5 {source="Orphanet:293948", source="Orphanet:293948/attributed", source="Orphanet:293948/ntbt"} xref: Orphanet:293948 {source="MONDO:equivalentTo"} xref: SCTID:719600006 {source="MONDO:equivalentTo"} @@ -338776,8 +352414,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017406 name: hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome +subset: gard_rare {source="GARD:21174"} subset: ordo_malformation_syndrome {source="Orphanet:293967"} synonym: "hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" EXACT [Orphanet:293967] +xref: GARD:21174 {source="Orphanet:293967"} xref: Orphanet:293967 {source="MONDO:equivalentTo"} xref: UMLS:CN203156 {source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism @@ -338787,8 +352427,10 @@ relationship: has_characteristic MONDO:0021136 ! rare [Term] id: MONDO:0017407 name: deficiency in anterior pituitary function - variable immunodeficiency syndrome +subset: gard_rare {source="GARD:17353"} subset: ordo_disease {source="Orphanet:293978"} synonym: "David syndrome" EXACT [Orphanet:293978] +xref: GARD:17353 {source="Orphanet:293978"} xref: Orphanet:293978 {source="MONDO:equivalentTo"} is_a: MONDO:0014260 ! immunodeficiency, common variable, 10 is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency @@ -338798,6 +352440,7 @@ property_value: confidence "2.3230769230769237" xsd:double id: MONDO:0017408 name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome def: "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." [NCIT:C121944] +subset: gard_rare {source="GARD:10407"} subset: ordo_disease {source="Orphanet:293987"} synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome" EXACT [Orphanet:293987] synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome" EXACT OMO:0003005 [] @@ -338807,6 +352450,7 @@ synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, an synonym: "ROHHAD" EXACT ABBREVIATION [Orphanet:293987] synonym: "ROHHAD syndrome" EXACT [NCIT:C121944] synonym: "ROHHADNET" EXACT ABBREVIATION [Orphanet:293987] +xref: GARD:10407 {source="Orphanet:293987"} xref: NCIT:C121944 {source="MONDO:equivalentTo"} xref: Orphanet:293987 {source="MONDO:equivalentTo"} xref: UMLS:C4053506 {source="NCIT:C121944", source="MONDO:equivalentTo"} @@ -338817,7 +352461,7 @@ is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine id: MONDO:0017409 name: fetal cytomegalovirus syndrome def: "An infection with the Cytomegalovirus that is present from birth." [] -subset: gard_rare +subset: gard_rare {source="GARD:1480"} subset: ordo_disease {source="Orphanet:294"} synonym: "antenatal CMV infection" EXACT [Orphanet:294] synonym: "antenatal cytomegalovirus infection" EXACT [Orphanet:294] @@ -338825,6 +352469,7 @@ synonym: "CMV antenatal infection" RELATED [GARD:0001409] synonym: "congenital Cytomegaloviral infection" EXACT [NCIT:C122427] synonym: "congenital cytomegalovirus" RELATED [GARD:0001480] synonym: "mother-to-child transmission of cytomegalovirus syndrome" EXACT [Orphanet:294] +xref: GARD:1480 {source="Orphanet:294"} xref: ICD10CM:P35.1 {source="Orphanet:294", source="Orphanet:294/e"} xref: NCIT:C122427 {source="MONDO:equivalentTo"} xref: Orphanet:294 {source="MONDO:equivalentTo", source="GARD:0001480"} @@ -338843,9 +352488,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1480/congeni id: MONDO:0017410 name: porencephaly def: "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." [Orphanet:2940] -subset: gard_rare {source="GARD:0007430"} +subset: gard_rare {source="GARD:7430"} subset: ordo_disease {source="Orphanet:2940"} xref: DOID:0060263 {source="MONDO:equivalentTo"} +xref: GARD:7430 {source="Orphanet:2940"} xref: HP:0002132 {source="DOID:0060263", source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.6 {source="DOID:0060263", source="Orphanet:2940/ntbt", source="Orphanet:2940", source="Orphanet:2940/index"} xref: MedDRA:10036172 {source="Orphanet:2940", source="Orphanet:2940/e"} @@ -338866,8 +352512,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7430/porence id: MONDO:0017411 name: neonatal inflammatory skin and bowel disease def: "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." [Orphanet:294023] +subset: gard_rare {source="GARD:17355"} subset: ordo_disease {source="Orphanet:294023"} synonym: "inflammatory skin and bowel disease, neonatal" EXACT [MONDO:0000180] +xref: GARD:17355 {source="Orphanet:294023"} xref: OMIMPS:614328 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="MONDO:equivalentTo"} xref: UMLS:CN228266 {source="MONDO:equivalentTo"} @@ -338906,9 +352554,11 @@ id: MONDO:0017414 name: obsolete rare nevus def: "OBSOLETE. Rare nevus." [] subset: disease_grouping +subset: gard_rare {source="GARD:21176"} subset: ordo_group_of_disorders {source="Orphanet:294057"} synonym: "rare melanocytic nevus" EXACT [MONDO:patterns/rare] synonym: "rare nevus" EXACT [] +xref: GARD:21176 {source="MONDO:obsoleteEquivalent", source="Orphanet:294057"} xref: Orphanet:294057 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0027960 {source="Orphanet:294057"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -338919,9 +352569,11 @@ replaced_by: MONDO:0005073 id: MONDO:0017415 name: multiple pterygium syndrome subset: disease_grouping +subset: gard_rare {source="GARD:21177"} subset: ordo_group_of_disorders {source="Orphanet:294060"} synonym: "pterygium syndrome" RELATED [MESH:C537377] xref: DOID:0080110 {source="MONDO:equivalentTo"} +xref: GARD:21177 {source="Orphanet:294060"} xref: ICD10CM:Q79.8 {source="Orphanet:294060/attributed", source="Orphanet:294060/ntbt", source="Orphanet:294060"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537377 {source="MONDO:equivalentTo"} @@ -338934,6 +352586,7 @@ is_a: MONDO:0015225 {source="Orphanet:294060"} ! arthrogryposis syndrome id: MONDO:0017416 name: postpoliomyelitis syndrome def: "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." [Orphanet:2942] +subset: gard_rare {source="GARD:4454"} subset: ordo_disease {source="Orphanet:2942"} synonym: "polio late effects" RELATED [GARD:0004454] synonym: "post polio syndrome" RELATED [GARD:0004454] @@ -338947,6 +352600,7 @@ synonym: "postpoliomyelitis sequelae" EXACT [Orphanet:2942] synonym: "postpoliomyelitis syndrome" EXACT [MONDO:0005930] xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"} xref: EFO:0007454 {source="MONDO:equivalentTo"} +xref: GARD:4454 {source="Orphanet:2942"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G14 {source="DOID:4952", source="Orphanet:2942", source="Orphanet:2942/e"} xref: MESH:D016262 {source="DOID:4952", source="MONDO:equivalentTo", source="EFO:0007454"} @@ -338964,11 +352618,13 @@ relationship: disease_has_location CL:0000187 {source="EFO:0000784"} ! muscle ce id: MONDO:0017417 name: renal-hepatic-pancreatic dysplasia def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes." [https://orcid.org/0000-0001-5208-3432, Orphanet:294415] +subset: gard_rare {source="GARD:17356"} subset: ordo_malformation_syndrome {source="Orphanet:294415"} synonym: "Ivemark II syndrome" EXACT [Orphanet:294415] synonym: "Ivemark's syndrome" EXACT [DOID:0060259] synonym: "Renohepaticopancreatic dysplasia" EXACT [Orphanet:294415] xref: DOID:0060259 {source="MONDO:equivalentTo"} +xref: GARD:17356 {source="Orphanet:294415"} xref: OMIMPS:208540 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:294415 {source="DOID:0060259", source="MONDO:equivalentTo"} xref: SCTID:763891005 {source="MONDO:equivalentTo"} @@ -338982,8 +352638,10 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208540"} ! inheri id: MONDO:0017418 name: chronic intestinal failure def: "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." [Orphanet:294422] +subset: gard_rare {source="GARD:21178"} subset: ordo_clinical_syndrome {source="Orphanet:294422"} synonym: "CIF" EXACT ABBREVIATION [Orphanet:294422] +xref: GARD:21178 {source="Orphanet:294422"} xref: Orphanet:294422 {source="MONDO:equivalentTo"} xref: SCTID:716665002 {source="MONDO:equivalentTo"} xref: UMLS:C4274352 {source="MONDO:equivalentTo"} @@ -338996,10 +352654,12 @@ id: MONDO:0017419 name: non-syndromic amelia def: "A congenital malformation characterized by the complete absence of all limbs." [NCIT:C34370] subset: disease_grouping +subset: gard_rare {source="GARD:21179"} subset: ordo_group_of_disorders {source="Orphanet:294925"} synonym: "amelia" BROAD [MONDO:ambiguous] synonym: "isolated amelia" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic amelia" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:21179 {source="Orphanet:294925"} xref: HP:0009827 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q73.0 {source="Orphanet:294925", source="Orphanet:294925/e", source="Orphanet:294925/specific"} xref: MedDRA:10001926 {source="Orphanet:294925", source="Orphanet:294925/e"} @@ -339017,7 +352677,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017420 name: obsolete intercalary limb defects +subset: gard_rare {source="GARD:21180"} synonym: "intercalary meromelia" EXACT [Orphanet:294927] +xref: GARD:21180 {source="Orphanet:294927", source="MONDO:obsoleteEquivalent"} xref: Orphanet:294927 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -339088,7 +352750,6 @@ id: MONDO:0017425 name: preaxial polydactyly of fingers def: "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." [Orphanet:294939] subset: disease_grouping -subset: gard_rare {source="GARD:0012767"} subset: ordo_group_of_disorders {source="Orphanet:294939"} synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939] xref: ICD10CM:Q69.1 {source="Orphanet:294939/attributed", source="Orphanet:294939/ntbt", source="Orphanet:294939"} @@ -339115,7 +352776,9 @@ is_a: MONDO:0011348 {source="Orphanet:294942"} ! non-syndromic polydactyly id: MONDO:0017427 name: congenital deformities of limbs subset: disease_grouping +subset: gard_rare {source="GARD:21181"} subset: ordo_group_of_disorders {source="Orphanet:294944"} +xref: GARD:21181 {source="Orphanet:294944"} xref: MedDRA:10024500 {source="Orphanet:294944/e", source="Orphanet:294944"} xref: Orphanet:294944 {source="MONDO:equivalentTo"} xref: UMLS:C0206762 {source="Orphanet:294944/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294944"} @@ -339127,6 +352790,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017428 name: obsolete congenital deformities of fingers +subset: gard_rare {source="GARD:21182"} +xref: GARD:21182 {source="Orphanet:294947", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q68.1 {source="Orphanet:294947", source="Orphanet:294947/attributed", source="Orphanet:294947/ntbt"} xref: Orphanet:294947 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -339138,6 +352803,8 @@ is_obsolete: true [Term] id: MONDO:0017429 name: obsolete joint formation defects +subset: gard_rare {source="GARD:21183"} +xref: GARD:21183 {source="Orphanet:294949", source="MONDO:obsoleteEquivalent"} xref: Orphanet:294949 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015227 {source="Orphanet:294949"} ! obsolete non-syndromic limb malformation property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -339150,7 +352817,9 @@ is_obsolete: true [Term] id: MONDO:0017430 name: obsolete non-syndromic congenital joint dislocations +subset: gard_rare {source="GARD:21184"} synonym: "congenital joint dislocations" RELATED [Orphanet:294951] +xref: GARD:21184 {source="MONDO:obsoleteEquivalent", source="Orphanet:294951"} xref: Orphanet:294951 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -339160,7 +352829,9 @@ is_obsolete: true [Term] id: MONDO:0017431 name: obsolete non-syndromic limb overgrowth +subset: gard_rare {source="GARD:21185"} synonym: "limb overgrowth" RELATED [Orphanet:294953] +xref: GARD:21185 {source="MONDO:obsoleteEquivalent", source="Orphanet:294953"} xref: Orphanet:294953 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -339171,7 +352842,9 @@ is_obsolete: true id: MONDO:0017432 name: obsolete syndrome with limb reduction defects comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21186"} subset: ordo_group_of_disorders {source="Orphanet:294955"} +xref: GARD:21186 {source="MONDO:obsoleteEquivalent", source="Orphanet:294955"} xref: Orphanet:294955 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203180 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -339183,7 +352856,9 @@ consider: MONDO:0002254 id: MONDO:0017433 name: obsolete dysostosis with combined reduction defects of upper and lower limbs subset: disease_grouping +subset: gard_rare {source="GARD:21187"} subset: ordo_group_of_disorders {source="Orphanet:294957"} +xref: GARD:21187 {source="Orphanet:294957", source="MONDO:obsoleteEquivalent"} xref: Orphanet:294957 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -339191,7 +352866,9 @@ is_obsolete: true id: MONDO:0017434 name: obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21188"} subset: ordo_group_of_disorders {source="Orphanet:294959"} +xref: GARD:21188 {source="Orphanet:294959", source="MONDO:obsoleteEquivalent"} xref: Orphanet:294959 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203181 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -339205,11 +352882,13 @@ name: popliteal pterygium syndrome def: "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." [NCIT:P378] comment: Editor notes: DO classifies as autosomal dominant, however there is an autosomal recessive subclass (Bartsocas-Papas). subset: disease_grouping +subset: gard_rare {source="GARD:21189"} subset: ordo_group_of_disorders {source="Orphanet:294963"} synonym: "facio-genito-popliteal syndrome" EXACT [DOID:0060055] synonym: "popliteal web syndrome" RELATED EXCLUDE [DOID:0060055] synonym: "PPS" EXACT ABBREVIATION [NCIT:C118786] xref: DOID:0060055 {source="MONDO:equivalentTo"} +xref: GARD:21189 {source="Orphanet:294963"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562509 {source="DOID:0060055", source="MONDO:equivalentTo"} xref: NCIT:C118786 {source="DOID:0060055", source="MONDO:equivalentTo"} @@ -339227,9 +352906,11 @@ id: MONDO:0017436 name: lethal congenital contracture syndrome def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." [DOID:0060558, PMID:22610851] subset: disease_grouping +subset: gard_rare {source="GARD:12643"} subset: ordo_group_of_disorders {source="Orphanet:294965"} synonym: "LCCS" EXACT ABBREVIATION [Orphanet:294965] xref: DOID:0060558 {source="MONDO:equivalentTo"} +xref: GARD:12643 {source="Orphanet:294965"} xref: ICD10CM:Q68.8 {source="DOID:0060558", source="Orphanet:294965/attributed", source="Orphanet:294965/ntbt", source="Orphanet:294965"} xref: OMIMPS:253310 {source="MONDO:equivalentTo", source="DOID:0060558"} xref: Orphanet:294965 {source="MONDO:equivalentTo", source="DOID:0060558"} @@ -339243,9 +352924,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017437 name: amelia of upper limb def: "A non-syndromic amelia that involves the forelimb." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21190"} subset: ordo_morphological_anomaly {source="Orphanet:294967"} synonym: "forelimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic amelia of forelimb" EXACT [MONDO:design_pattern] +xref: GARD:21190 {source="Orphanet:294967"} xref: HP:0009812 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q71.0 {source="Orphanet:294967/specific", source="Orphanet:294967/e", source="Orphanet:294967"} xref: Orphanet:294967 {source="MONDO:equivalentTo"} @@ -339258,9 +352941,11 @@ intersection_of: disease_has_location UBERON:0002102 ! forelimb id: MONDO:0017438 name: amelia of lower limb def: "A non-syndromic amelia that involves the hindlimb." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21191"} subset: ordo_morphological_anomaly {source="Orphanet:294969"} synonym: "hindlimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic amelia of hindlimb" EXACT [MONDO:design_pattern] +xref: GARD:21191 {source="Orphanet:294969"} xref: HP:0009818 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q72.0 {source="Orphanet:294969", source="Orphanet:294969/e", source="Orphanet:294969/specific"} xref: Orphanet:294969 {source="MONDO:equivalentTo"} @@ -339272,11 +352957,13 @@ intersection_of: disease_has_location UBERON:0002103 ! hindlimb [Term] id: MONDO:0017439 name: tetra-amelia +subset: gard_rare {source="GARD:5148"} subset: ordo_morphological_anomaly {source="Orphanet:294971"} synonym: "tetra-amelia syndrome" RELATED [GARD:0005148] synonym: "tetra-amelia, autosomal recessive" RELATED [GARD:0005148] synonym: "Tetraamelia, autosomal recessive" RELATED [GARD:0005148] synonym: "total amelia" EXACT [Orphanet:294971] +xref: GARD:5148 {source="Orphanet:294971"} xref: HP:0003057 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q73.0 {source="Orphanet:294971", source="Orphanet:294971/attributed", source="Orphanet:294971/ntbt"} xref: MESH:C536498 {source="MONDO:equivalentTo"} @@ -339288,10 +352975,12 @@ is_a: MONDO:0017419 {source="Orphanet:294971"} ! non-syndromic amelia id: MONDO:0017440 name: humeral agenesis/hypoplasia def: "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." [Orphanet:294973] +subset: gard_rare {source="GARD:21192"} subset: ordo_morphological_anomaly {source="Orphanet:294973"} synonym: "congenital absence of humerus" EXACT [Orphanet:294973] synonym: "congenital hypoplasia of humerus" EXACT [Orphanet:294973] synonym: "humeral intercalary meromelia" EXACT [Orphanet:294973] +xref: GARD:21192 {source="Orphanet:294973"} xref: ICD10CM:Q71.8 {source="Orphanet:294973/ntbt", source="Orphanet:294973", source="Orphanet:294973/index"} xref: Orphanet:294973 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia @@ -339302,9 +352991,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017441 name: congenital absence of upper arm and forearm with hand present def: "A congenital malformation in which the upper portion of a limb is either shortened or absent." [NCIT:C34928] +subset: gard_rare {source="GARD:12123"} subset: ordo_morphological_anomaly {source="Orphanet:294975"} synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [Orphanet:294975] synonym: "phocomelia" EXACT [Orphanet:294975] +xref: GARD:12123 {source="Orphanet:294975"} xref: ICD10CM:Q71.1 {source="Orphanet:294975/specific", source="Orphanet:294975/e", source="MONDO:equivalentTo", source="Orphanet:294975"} xref: NCIT:C34928 {source="MONDO:equivalentTo"} xref: Orphanet:294975 {source="MONDO:equivalentTo"} @@ -339321,8 +353012,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017442 name: congenital absence of thigh and lower leg with foot present +subset: gard_rare {source="GARD:21193"} subset: ordo_morphological_anomaly {source="Orphanet:294977"} synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [Orphanet:294977] +xref: GARD:21193 {source="Orphanet:294977"} xref: ICD10CM:Q72.1 {source="Orphanet:294977/specific", source="Orphanet:294977/e", source="MONDO:equivalentTo", source="Orphanet:294977"} xref: ICD9:755.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:294977 {source="MONDO:equivalentTo"} @@ -339339,8 +353032,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017443 name: congenital absence of both forearm and hand def: "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." [Orphanet:294979] +subset: gard_rare {source="GARD:21194"} subset: ordo_morphological_anomaly {source="Orphanet:294979"} synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979] +xref: GARD:21194 {source="Orphanet:294979"} xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="Orphanet:294979/e", source="Orphanet:294979/specific"} xref: Orphanet:294979 {source="MONDO:equivalentTo"} xref: UMLS:C1306663 {source="Orphanet:294979", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294979/e"} @@ -339355,8 +353050,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017444 name: congenital absence of both lower leg and foot +subset: gard_rare {source="GARD:21195"} subset: ordo_morphological_anomaly {source="Orphanet:294981"} synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981] +xref: GARD:21195 {source="Orphanet:294981"} xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="Orphanet:294981/specific", source="Orphanet:294981/e"} xref: Orphanet:294981 {source="MONDO:equivalentTo"} xref: SCTID:278532000 {source="MONDO:equivalentTo"} @@ -339371,8 +353068,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017445 name: acheiria +subset: gard_rare {source="GARD:21196"} subset: ordo_morphological_anomaly {source="Orphanet:294983"} synonym: "congenital absence of hand" EXACT [Orphanet:294983] +xref: GARD:21196 {source="Orphanet:294983"} xref: ICD10CM:Q71.3 {source="Orphanet:294983/specific", source="Orphanet:294983", source="Orphanet:294983/e"} xref: Orphanet:294983 {source="MONDO:equivalentTo"} xref: SCTID:371199008 {source="MONDO:equivalentTo"} @@ -339385,8 +353084,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017446 name: apodia +subset: gard_rare {source="GARD:21197"} subset: ordo_morphological_anomaly {source="Orphanet:294986"} synonym: "congenital absence of foot" EXACT [Orphanet:294986] +xref: GARD:21197 {source="Orphanet:294986"} xref: ICD10CM:Q72.3 {source="Orphanet:294986/specific", source="Orphanet:294986/e", source="Orphanet:294986"} xref: Orphanet:294986 {source="MONDO:equivalentTo"} xref: SCTID:371197005 {source="MONDO:equivalentTo"} @@ -339401,9 +353102,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017447 name: obsolete congenital absence/hypoplasia of thumb def: "OBSOLETE. Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." [Orphanet:294988] +subset: gard_rare {source="GARD:21198"} subset: ordo_morphological_anomaly {source="Orphanet:294988"} synonym: "thumb hypodactyly" EXACT [Orphanet:294988] synonym: "thumb oligodactyly" EXACT [Orphanet:294988] +xref: GARD:21198 {source="MONDO:obsoleteEquivalent", source="Orphanet:294988"} xref: ICD10CM:Q71.3 {source="Orphanet:294988/attributed", source="Orphanet:294988/ntbt", source="Orphanet:294988"} xref: Orphanet:294988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -339499,7 +353202,7 @@ intersection_of: disease_has_location UBERON:0002387 ! pes id: MONDO:0017453 name: fetal parvovirus syndrome def: "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." [Orphanet:295] -subset: gard_rare +subset: gard_rare {source="GARD:4236"} subset: ordo_malformation_syndrome {source="Orphanet:295"} synonym: "fifth disease" RELATED [GARD:0004236] synonym: "Human parvovirus B19 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -339508,6 +353211,7 @@ synonym: "Maternofetal infection by parvovirus" RELATED [GARD:0004236] synonym: "mother-to-child transmission of parvovirus syndrome" EXACT [Orphanet:295] synonym: "Parvovirus antenatal infection" EXACT [Orphanet:295] synonym: "Parvovirus B19 antenatal infection" RELATED [GARD:0004236] +xref: GARD:4236 {source="Orphanet:295"} xref: ICD10CM:P35.8 {source="Orphanet:295/ntbt", source="Orphanet:295"} xref: MESH:C536301 {source="MONDO:equivalentTo"} xref: Orphanet:295 {source="MONDO:equivalentTo"} @@ -339537,9 +353241,11 @@ property_value: confidence "1.0819277108433734" xsd:double id: MONDO:0017455 name: hyperphalangy def: "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." [Orphanet:295002] +subset: gard_rare {source="GARD:21199"} subset: ordo_morphological_anomaly {source="Orphanet:295002"} synonym: "supernumerary phalanges" EXACT [Orphanet:295002] synonym: "supernumerary phalanx" EXACT [Orphanet:295002] +xref: GARD:21199 {source="Orphanet:295002"} xref: ICD10CM:Q74.8 {source="Orphanet:295002", source="Orphanet:295002/attributed", source="Orphanet:295002/ntbt"} xref: Orphanet:295002 {source="MONDO:equivalentTo"} xref: SCTID:763535005 {source="MONDO:equivalentTo"} @@ -339549,12 +353255,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017456 name: central polydactyly of fingers +subset: gard_rare {source="GARD:21200"} subset: ordo_morphological_anomaly {source="Orphanet:295004"} synonym: "central polydactyly" RELATED [Orphanet:295004] synonym: "central polydactyly of hand" EXACT [Orphanet:295004] synonym: "mesoaxial polydactyly" EXACT [Orphanet:295004] synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004] synonym: "mirror hand" EXACT [Orphanet:295004] +xref: GARD:21200 {source="Orphanet:295004"} xref: ICD10CM:Q69.0 {source="Orphanet:295004", source="Orphanet:295004/attributed", source="Orphanet:295004/ntbt"} xref: Orphanet:295004 {source="MONDO:equivalentTo"} xref: SCTID:205130008 {source="MONDO:equivalentTo"} @@ -339604,10 +353312,12 @@ consider: MONDO:0011348 id: MONDO:0017460 name: syndactyly type 6 def: "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers." [Orphanet:295012] +subset: gard_rare {source="GARD:21201"} subset: ordo_morphological_anomaly {source="Orphanet:295012"} synonym: "mitten hand" EXACT [Orphanet:295012] synonym: "syndactyly, mitten type" EXACT [Orphanet:295012] synonym: "unilateral syndactyly of digits 2-5" EXACT [Orphanet:295012] +xref: GARD:21201 {source="Orphanet:295012"} xref: ICD10CM:Q70.1 {source="Orphanet:295012/attributed", source="Orphanet:295012/ntbt", source="Orphanet:295012"} xref: Orphanet:295012 {source="MONDO:equivalentTo"} xref: SCTID:763624007 {source="MONDO:equivalentTo"} @@ -339619,7 +353329,9 @@ property_value: confidence "1.0" xsd:double id: MONDO:0017461 name: familial isolated clinodactyly of fingers def: "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." [Orphanet:295014] +subset: gard_rare {source="GARD:21202"} subset: ordo_morphological_anomaly {source="Orphanet:295014"} +xref: GARD:21202 {source="Orphanet:295014"} xref: ICD10CM:Q68.1 {source="Orphanet:295014", source="Orphanet:295014/attributed", source="Orphanet:295014/ntbt"} xref: Orphanet:295014 {source="MONDO:equivalentTo"} xref: SCTID:763691008 {source="MONDO:equivalentTo"} @@ -339631,9 +353343,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017462 name: congenital pseudoarthrosis of the tibia def: "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." [NCIT:C132080] +subset: gard_rare {source="GARD:21203"} subset: ordo_clinical_subtype {source="Orphanet:295018"} synonym: "congenital pseudarthrosis of the tibia" EXACT [Orphanet:295018] synonym: "congenital pseudarthrosis of tibia" EXACT [NCIT:C132080] +xref: GARD:21203 {source="Orphanet:295018"} xref: ICD10CM:Q74.2 {source="Orphanet:295018", source="Orphanet:295018/attributed", source="Orphanet:295018/ntbt"} xref: NCIT:C132080 {source="MONDO:equivalentTo"} xref: Orphanet:295018 {source="MONDO:equivalentTo"} @@ -339646,8 +353360,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017463 name: congenital pseudoarthrosis of the femur +subset: gard_rare {source="GARD:21204"} subset: ordo_clinical_subtype {source="Orphanet:295020"} synonym: "congenital pseudarthrosis of the femur" EXACT [Orphanet:295020] +xref: GARD:21204 {source="Orphanet:295020"} xref: ICD10CM:Q74.2 {source="Orphanet:295020/attributed", source="Orphanet:295020/ntbt", source="Orphanet:295020"} xref: Orphanet:295020 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295020"} ! congenital pseudoarthrosis of the limbs @@ -339657,8 +353373,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017464 name: congenital pseudoarthrosis of the fibula +subset: gard_rare {source="GARD:21205"} subset: ordo_clinical_subtype {source="Orphanet:295022"} synonym: "congenital pseudarthrosis of the fibula" EXACT [Orphanet:295022] +xref: GARD:21205 {source="Orphanet:295022"} xref: ICD10CM:Q74.2 {source="Orphanet:295022/attributed", source="Orphanet:295022/ntbt", source="Orphanet:295022"} xref: Orphanet:295022 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295022"} ! congenital pseudoarthrosis of the limbs @@ -339668,8 +353386,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017465 name: congenital pseudoarthrosis of the radius +subset: gard_rare {source="GARD:21206"} subset: ordo_clinical_subtype {source="Orphanet:295024"} synonym: "congenital pseudarthrosis of the radius" EXACT [Orphanet:295024] +xref: GARD:21206 {source="Orphanet:295024"} xref: ICD10CM:Q74.0 {source="Orphanet:295024", source="Orphanet:295024/attributed", source="Orphanet:295024/ntbt"} xref: Orphanet:295024 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295024"} ! congenital pseudoarthrosis of the limbs @@ -339679,8 +353399,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017466 name: congenital pseudoarthrosis of the ulna +subset: gard_rare {source="GARD:21207"} subset: ordo_clinical_subtype {source="Orphanet:295026"} synonym: "congenital pseudarthrosis of the ulna" EXACT [Orphanet:295026] +xref: GARD:21207 {source="Orphanet:295026"} xref: ICD10CM:Q74.0 {source="Orphanet:295026", source="Orphanet:295026/attributed", source="Orphanet:295026/ntbt"} xref: Orphanet:295026 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295026"} ! congenital pseudoarthrosis of the limbs @@ -339691,8 +353413,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017467 name: tibio-fibular synostosis def: "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." [Orphanet:295028] +subset: gard_rare {source="GARD:21208"} subset: ordo_morphological_anomaly {source="Orphanet:295028"} synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028] +xref: GARD:21208 {source="Orphanet:295028"} xref: ICD10CM:Q74.2 {source="Orphanet:295028/attributed", source="Orphanet:295028/ntbt", source="Orphanet:295028"} xref: Orphanet:295028 {source="MONDO:equivalentTo"} xref: SCTID:737581000 {source="MONDO:equivalentTo"} @@ -339704,7 +353428,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017468 name: congenital shoulder dislocation +subset: gard_rare {source="GARD:21209"} subset: ordo_morphological_anomaly {source="Orphanet:295030"} +xref: GARD:21209 {source="Orphanet:295030"} xref: ICD10CM:Q68.8 {source="Orphanet:295030", source="Orphanet:295030/ntbt", source="Orphanet:295030/inclusion"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:295030 {source="MONDO:equivalentTo"} @@ -339718,10 +353444,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017469 name: congenital elbow dislocation +subset: gard_rare {source="GARD:21210"} subset: ordo_morphological_anomaly {source="Orphanet:295032"} synonym: "congenital radial head dislocation" EXACT [Orphanet:295032] synonym: "isolated congenital elbow dislocation" EXACT [Orphanet:295032] synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032] +xref: GARD:21210 {source="Orphanet:295032"} xref: ICD10CM:Q68.8 {source="Orphanet:295032/inclusion", source="Orphanet:295032", source="Orphanet:295032/ntbt"} xref: Orphanet:295032 {source="MONDO:equivalentTo"} xref: UMLS:C0265561 {source="Orphanet:295032", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295032/e"} @@ -339733,9 +353461,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017470 name: congenital knee dislocation +subset: gard_rare {source="GARD:21211"} subset: ordo_morphological_anomaly {source="Orphanet:295034"} synonym: "congenital knee dislocation" EXACT [MONDO:ambiguous] synonym: "congenital knee dislocation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:21211 {source="Orphanet:295034"} xref: HP:0005191 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q68.2 {source="Orphanet:295034/ntbt", source="Orphanet:295034/inclusion", source="Orphanet:295034"} xref: ICD9:754.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -339752,10 +353482,11 @@ property_value: IAO:0000589 "congenital knee dislocation (disease)" xsd:string [Term] id: MONDO:0017471 name: congenital patella dislocation -subset: gard_rare {source="GARD:0009692"} +subset: gard_rare {source="GARD:9692"} subset: ordo_morphological_anomaly {source="Orphanet:295036"} synonym: "congenital dislocation of the patella" RELATED [GARD:0009692] synonym: "congenital patellar dislocation" RELATED [GARD:0009692] +xref: GARD:9692 {source="Orphanet:295036"} xref: ICD10CM:Q74.1 {source="Orphanet:295036/inclusion", source="Orphanet:295036", source="Orphanet:295036/ntbt"} xref: MESH:C538081 {source="MONDO:equivalentTo"} xref: Orphanet:295036 {source="MONDO:equivalentTo"} @@ -339784,11 +353515,13 @@ is_a: MONDO:0008205 {source="Orphanet:295041"} ! patella aplasia/hypoplasia [Term] id: MONDO:0017474 name: macrodactyly of fingers +subset: gard_rare {source="GARD:8529"} subset: ordo_morphological_anomaly {source="Orphanet:295044"} synonym: "macrodactyly of hand" EXACT [Orphanet:295044] synonym: "macrodactyly of the hand" RELATED [GARD:0008529] synonym: "megalodactylism of the hand" RELATED [GARD:0008529] synonym: "Megalodactyly of the hand" RELATED [GARD:0008529] +xref: GARD:8529 {source="Orphanet:295044"} xref: HP:0100746 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:295044/attributed", source="Orphanet:295044/ntbt", source="Orphanet:295044"} xref: MESH:C537720 {source="MONDO:equivalentTo"} @@ -339801,11 +353534,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017475 name: macrodactyly of toes +subset: gard_rare {source="GARD:6951"} subset: ordo_morphological_anomaly {source="Orphanet:295047"} synonym: "macrodactyly of foot" EXACT [Orphanet:295047] synonym: "macrodactyly of the foot" RELATED [GARD:0006951] synonym: "megalodactylism of the foot" RELATED [GARD:0006951] synonym: "Megalodactyly of the foot" RELATED [GARD:0006951] +xref: GARD:6951 {source="Orphanet:295047"} xref: HP:0100747 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.2 {source="Orphanet:295047", source="Orphanet:295047/index", source="Orphanet:295047/ntbt"} xref: MESH:C537719 {source="MONDO:equivalentTo"} @@ -339817,7 +353552,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017476 name: upper limb hypertrophy +subset: gard_rare {source="GARD:21212"} subset: ordo_morphological_anomaly {source="Orphanet:295049"} +xref: GARD:21212 {source="Orphanet:295049"} xref: ICD10CM:Q74.0 {source="Orphanet:295049", source="Orphanet:295049/attributed", source="Orphanet:295049/ntbt"} xref: Orphanet:295049 {source="MONDO:equivalentTo"} xref: UMLS:C0575518 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295049", source="Orphanet:295049/e"} @@ -339828,7 +353565,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017477 name: lower limb hypertrophy def: "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." [Orphanet:295051] +subset: gard_rare {source="GARD:21213"} subset: ordo_morphological_anomaly {source="Orphanet:295051"} +xref: GARD:21213 {source="Orphanet:295051"} xref: ICD10CM:Q74.2 {source="Orphanet:295051", source="Orphanet:295051/attributed", source="Orphanet:295051/ntbt"} xref: Orphanet:295051 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -340480,12 +354219,14 @@ consider: MONDO:0011348 [Term] id: MONDO:0017543 name: zygodactyly type 2 +subset: gard_rare {source="GARD:21214"} subset: ordo_clinical_subtype {source="Orphanet:295189"} synonym: "SD1, Lueken type" EXACT [Orphanet:295189] synonym: "SD1b" EXACT [Orphanet:295189] synonym: "syndactyly type 1, Lueken type" EXACT [Orphanet:295189] synonym: "syndactyly type 1b" EXACT [Orphanet:295189] synonym: "Zygodactyly, Lueken type" EXACT [Orphanet:295189] +xref: GARD:21214 {source="Orphanet:295189"} xref: ICD10CM:Q70.0 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} xref: ICD10CM:Q70.1 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} @@ -340499,12 +354240,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017544 name: zygodactyly type 3 +subset: gard_rare {source="GARD:21215"} subset: ordo_clinical_subtype {source="Orphanet:295191"} synonym: "SD1, Montagu type" EXACT [Orphanet:295191] synonym: "SD1c" EXACT [Orphanet:295191] synonym: "syndactyly type 1, Montagu type" EXACT [Orphanet:295191] synonym: "syndactyly type 1c" EXACT [Orphanet:295191] synonym: "Zygodactyly, Montagu type" EXACT [Orphanet:295191] +xref: GARD:21215 {source="Orphanet:295191"} xref: ICD10CM:Q70.0 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} xref: ICD10CM:Q70.1 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} xref: ICD10CM:Q70.2 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} @@ -340516,12 +354259,14 @@ is_a: MONDO:0008512 {source="Orphanet:295191"} ! syndactyly type 1 [Term] id: MONDO:0017545 name: zygodactyly type 4 +subset: gard_rare {source="GARD:21216"} subset: ordo_clinical_subtype {source="Orphanet:295193"} synonym: "SD1, Castilla type" EXACT [Orphanet:295193] synonym: "SD1d" EXACT [Orphanet:295193] synonym: "syndactyly type 1, Castilla type" EXACT [Orphanet:295193] synonym: "syndactyly type 1d" EXACT [Orphanet:295193] synonym: "Zygodactyly, Castilla type" EXACT [Orphanet:295193] +xref: GARD:21216 {source="Orphanet:295193"} xref: ICD10CM:Q70.3 {source="Orphanet:295193/attributed", source="Orphanet:295193/ntbt", source="Orphanet:295193"} xref: Orphanet:295193 {source="MONDO:equivalentTo"} xref: UMLS:CN203277 {source="MONDO:equivalentTo"} @@ -340530,7 +354275,9 @@ is_a: MONDO:0008512 {source="Orphanet:295193"} ! syndactyly type 1 [Term] id: MONDO:0017546 name: congenital vertical talus, unilateral +subset: gard_rare {source="GARD:21217"} subset: ordo_clinical_subtype {source="Orphanet:295201"} +xref: GARD:21217 {source="Orphanet:295201"} xref: ICD10CM:Q66.8 {source="Orphanet:295201", source="Orphanet:295201/attributed", source="Orphanet:295201/ntbt"} xref: Orphanet:295201 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus @@ -340538,7 +354285,9 @@ is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus [Term] id: MONDO:0017547 name: congenital vertical talus, bilateral +subset: gard_rare {source="GARD:21218"} subset: ordo_clinical_subtype {source="Orphanet:295203"} +xref: GARD:21218 {source="Orphanet:295203"} xref: ICD10CM:Q66.8 {source="Orphanet:295203", source="Orphanet:295203/attributed", source="Orphanet:295203/ntbt"} xref: Orphanet:295203 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295203"} ! congenital vertical talus @@ -340582,8 +354331,10 @@ is_a: MONDO:0007737 {source="Orphanet:295211"} ! humeroradial synostosis [Term] id: MONDO:0017552 name: humero-ulnar synostosis, unilateral +subset: gard_rare {source="GARD:21219"} subset: ordo_clinical_subtype {source="Orphanet:295213"} synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213] +xref: GARD:21219 {source="Orphanet:295213"} xref: ICD10CM:Q74.0 {source="Orphanet:295213", source="Orphanet:295213/attributed", source="Orphanet:295213/ntbt"} xref: Orphanet:295213 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis @@ -340591,8 +354342,10 @@ is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis [Term] id: MONDO:0017553 name: humero-ulnar synostosis, bilateral +subset: gard_rare {source="GARD:21220"} subset: ordo_clinical_subtype {source="Orphanet:295215"} synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215] +xref: GARD:21220 {source="Orphanet:295215"} xref: ICD10CM:Q74.0 {source="Orphanet:295215/attributed", source="Orphanet:295215/ntbt", source="Orphanet:295215"} xref: Orphanet:295215 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis @@ -340600,8 +354353,10 @@ is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis [Term] id: MONDO:0017554 name: radio-ulnar synostosis, unilateral +subset: gard_rare {source="GARD:21221"} subset: ordo_clinical_subtype {source="Orphanet:295217"} synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217] +xref: GARD:21221 {source="Orphanet:295217"} xref: ICD10CM:Q74.0 {source="Orphanet:295217/attributed", source="Orphanet:295217/ntbt", source="Orphanet:295217"} xref: Orphanet:295217 {source="MONDO:equivalentTo"} xref: UMLS:CN203290 {source="MONDO:equivalentTo"} @@ -340610,8 +354365,10 @@ is_a: MONDO:0017985 {source="Orphanet:295217"} ! congenital radioulnar synostosi [Term] id: MONDO:0017555 name: radio-ulnar synostosis, bilateral +subset: gard_rare {source="GARD:21222"} subset: ordo_clinical_subtype {source="Orphanet:295219"} synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219] +xref: GARD:21222 {source="Orphanet:295219"} xref: ICD10CM:Q74.0 {source="Orphanet:295219/attributed", source="Orphanet:295219/ntbt", source="Orphanet:295219"} xref: Orphanet:295219 {source="MONDO:equivalentTo"} xref: UMLS:CN203291 {source="MONDO:equivalentTo"} @@ -340636,7 +354393,9 @@ is_a: MONDO:0018154 {source="Orphanet:295223"} ! Madelung deformity [Term] id: MONDO:0017558 name: congenital elbow dislocation, unilateral +subset: gard_rare {source="GARD:21223"} subset: ordo_clinical_subtype {source="Orphanet:295225"} +xref: GARD:21223 {source="Orphanet:295225"} xref: ICD10CM:Q68.8 {source="Orphanet:295225", source="Orphanet:295225/attributed", source="Orphanet:295225/ntbt"} xref: Orphanet:295225 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295225"} ! congenital elbow dislocation @@ -340646,7 +354405,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017559 name: congenital elbow dislocation, bilateral +subset: gard_rare {source="GARD:21224"} subset: ordo_clinical_subtype {source="Orphanet:295227"} +xref: GARD:21224 {source="Orphanet:295227"} xref: ICD10CM:Q68.8 {source="Orphanet:295227", source="Orphanet:295227/attributed", source="Orphanet:295227/ntbt"} xref: Orphanet:295227 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295227"} ! congenital elbow dislocation @@ -340657,10 +354418,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017560 name: congenital genu recurvatum def: "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." [NCIT:C103184] +subset: gard_rare {source="GARD:21225"} subset: ordo_clinical_subtype {source="Orphanet:295229"} synonym: "genu recurvatum" EXACT [NCIT:C103184] synonym: "hyperextension deformity of knee" EXACT [NCIT:C103184] synonym: "hyperextension of knee deformity" EXACT [NCIT:C103184] +xref: GARD:21225 {source="Orphanet:295229"} xref: ICD10CM:Q68.2 {source="Orphanet:295229/ntbt", source="Orphanet:295229/inclusion", source="Orphanet:295229"} xref: ICD9:754.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C103184 {source="MONDO:equivalentTo"} @@ -340674,7 +354437,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017561 name: congenital genu flexum +subset: gard_rare {source="GARD:21226"} subset: ordo_clinical_subtype {source="Orphanet:295232"} +xref: GARD:21226 {source="Orphanet:295232"} xref: ICD10CM:Q68.2 {source="Orphanet:295232/attributed", source="Orphanet:295232/ntbt", source="Orphanet:295232"} xref: Orphanet:295232 {source="MONDO:equivalentTo"} is_a: MONDO:0017470 {source="Orphanet:295232"} ! congenital knee dislocation @@ -340704,8 +354469,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017564 name: macrodactyly of fingers, unilateral +subset: gard_rare {source="GARD:21227"} subset: ordo_clinical_subtype {source="Orphanet:295239"} synonym: "macrodactyly of hand, unilateral" EXACT [Orphanet:295239] +xref: GARD:21227 {source="Orphanet:295239"} xref: ICD10CM:Q74.0 {source="Orphanet:295239/attributed", source="Orphanet:295239/ntbt", source="Orphanet:295239"} xref: Orphanet:295239 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers @@ -340713,8 +354480,10 @@ is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers [Term] id: MONDO:0017565 name: macrodactyly of fingers, bilateral +subset: gard_rare {source="GARD:21228"} subset: ordo_clinical_subtype {source="Orphanet:295241"} synonym: "macrodactyly of hand, bilateral" EXACT [Orphanet:295241] +xref: GARD:21228 {source="Orphanet:295241"} xref: ICD10CM:Q74.0 {source="Orphanet:295241", source="Orphanet:295241/attributed", source="Orphanet:295241/ntbt"} xref: Orphanet:295241 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers @@ -340722,8 +354491,10 @@ is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers [Term] id: MONDO:0017566 name: macrodactyly of toes, unilateral +subset: gard_rare {source="GARD:21229"} subset: ordo_clinical_subtype {source="Orphanet:295243"} synonym: "macrodactyly of foot, unilateral" EXACT [Orphanet:295243] +xref: GARD:21229 {source="Orphanet:295243"} xref: ICD10CM:Q74.2 {source="Orphanet:295243/attributed", source="Orphanet:295243/ntbt", source="Orphanet:295243"} xref: Orphanet:295243 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes @@ -340731,8 +354502,10 @@ is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes [Term] id: MONDO:0017567 name: macrodactyly of toes, bilateral +subset: gard_rare {source="GARD:21230"} subset: ordo_clinical_subtype {source="Orphanet:295245"} synonym: "macrodactyly of foot, bilateral" EXACT [Orphanet:295245] +xref: GARD:21230 {source="Orphanet:295245"} xref: ICD10CM:Q74.2 {source="Orphanet:295245", source="Orphanet:295245/attributed", source="Orphanet:295245/ntbt"} xref: Orphanet:295245 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes @@ -340741,9 +354514,11 @@ is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes id: MONDO:0017568 name: Prata-Liberal-Goncalves syndrome def: "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." [Orphanet:2956] +subset: gard_rare {source="GARD:491"} subset: ordo_malformation_syndrome {source="Orphanet:2956"} synonym: "acrodysplasia scoliosis" EXACT [Orphanet:2956] synonym: "brachydactyly-scoliosis-carpal fusion syndrome" EXACT [Orphanet:2956] +xref: GARD:491 {source="Orphanet:2956"} xref: ICD10CM:Q87.8 {source="Orphanet:2956/attributed", source="Orphanet:2956/ntbt", source="Orphanet:2956"} xref: MESH:C538180 {source="Orphanet:2956/e", source="Orphanet:2956"} xref: MESH:C538277 {source="Orphanet:2956/e", source="Orphanet:2956"} @@ -340757,7 +354532,7 @@ is_a: MONDO:0018234 {source="Orphanet:2956", source="Orphanet:2956/inferred"} ! id: MONDO:0017569 name: de Barsy syndrome def: "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." [Orphanet:2962] -subset: gard_rare +subset: gard_rare {source="GARD:49"} subset: ordo_disease {source="Orphanet:2962"} synonym: "autosomal recessive cutis laxa type III" RELATED [DOID:0070143] synonym: "corneal clouding, cutis laxa and intellectual disability" RELATED [GARD:0000049] @@ -340769,6 +354544,7 @@ synonym: "progeroid syndrome of de Barsy" RELATED [GARD:0000049] synonym: "progeroid syndrome, De Barsy type" EXACT [Orphanet:2962] synonym: "progeroid syndrome, de Barsy type" RELATED [GARD:0000049] xref: DOID:0070143 {source="MONDO:equivalentTo"} +xref: GARD:49 {source="Orphanet:2962"} xref: ICD10CM:Q87.8 {source="Orphanet:2962/attributed", source="Orphanet:2962/ntbt", source="Orphanet:2962"} xref: MESH:C535990 {source="Orphanet:2962", source="MONDO:equivalentTo", source="Orphanet:2962/e"} xref: Orphanet:2962 {source="DOID:0070143", source="MONDO:equivalentTo", source="GARD:0000049"} @@ -340790,11 +354566,12 @@ relationship: excluded_subClassOf MONDO:0020280 {source="Orphanet:2962"} ! obsol id: MONDO:0017570 name: leukocyte adhesion deficiency def: "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." [Orphanet:2968] -subset: gard_rare +subset: gard_rare {source="GARD:16616"} subset: ordo_disease {source="Orphanet:2968"} synonym: "congenital leukocyte adherence deficiency" EXACT [DOID:6612] synonym: "LAD" BROAD ABBREVIATION [Orphanet:2968] xref: DOID:6612 {source="MONDO:equivalentTo"} +xref: GARD:16616 {source="Orphanet:2968"} xref: ICD10CM:D84.8 {source="DOID:6612", source="Orphanet:2968", source="Orphanet:2968/attributed", source="Orphanet:2968/ntbt"} xref: MESH:D018370 {source="Orphanet:2968/e", source="DOID:6612", source="Orphanet:2968"} xref: NCIT:C27874 {source="DOID:6612", source="MONDO:equivalentTo"} @@ -340812,11 +354589,12 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:2968"} ! Autosomal id: MONDO:0017571 name: Proteus-like syndrome def: "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." [Orphanet:2969] -subset: gard_rare +subset: gard_rare {source="GARD:12801"} subset: ordo_disease {source="Orphanet:2969"} synonym: "Cohen-Hayden syndrome" EXACT [Orphanet:2969] synonym: "Proteus like syndrome intellectual disability eye defect" RELATED [GARD:0004525] synonym: "Proteus like syndrome mental retardation eye defect" RELATED DEPRECATED [GARD:0004525] +xref: GARD:12801 {source="Orphanet:2969"} xref: ICD10CM:Q87.3 {source="Orphanet:2969/attributed", source="Orphanet:2969/ntbt", source="Orphanet:2969"} xref: NCIT:C179930 {source="MONDO:equivalentTo"} xref: Orphanet:2969 {source="MONDO:equivalentTo"} @@ -340836,7 +354614,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017572 name: tick-borne encephalitis def: "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." [Orphanet:297] -subset: gard_rare {source="GARD:0005216"} +subset: gard_rare {source="GARD:5216"} subset: ordo_disease {source="Orphanet:297"} synonym: "central European encephalitis" EXACT [DOID:0050175] synonym: "Far Eastern TBE" EXACT [DOID:0050175] @@ -340849,6 +354627,7 @@ synonym: "west-Siberian encephalitis" EXACT [DOID:0050175] synonym: "Western European tick-borne encephalitis" EXACT [DOID:0050175] xref: DOID:0050175 {source="MONDO:equivalentTo"} xref: EFO:1001309 {source="MONDO:equivalentTo"} +xref: GARD:5216 {source="Orphanet:297"} xref: ICD10CM:A84.0 {source="Orphanet:297/btnt", source="Orphanet:297"} xref: ICD10CM:A84.1 {source="Orphanet:297/btnt", source="Orphanet:297", source="DOID:0050175"} xref: ICD10CM:A84.8 {source="Orphanet:297/btnt", source="Orphanet:297"} @@ -340877,8 +354656,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5216/tick-bo id: MONDO:0017573 name: 46,XX disorder of sex development-anorectal anomalies syndrome def: "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." [Orphanet:2973] +subset: gard_rare {source="GARD:18782"} subset: ordo_malformation_syndrome {source="Orphanet:2973"} synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [Orphanet:2973] +xref: GARD:18782 {source="Orphanet:2973"} xref: ICD10CM:Q56.2 {source="Orphanet:2973/attributed", source="Orphanet:2973/ntbt", source="Orphanet:2973"} xref: Orphanet:2973 {source="MONDO:equivalentTo"} xref: UMLS:CN203326 {source="MONDO:equivalentTo"} @@ -340890,11 +354671,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017574 name: chronic intestinal pseudoobstruction def: "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." [Orphanet:2978] -subset: gard_rare {source="GARD:0012744"} +subset: gard_rare {source="GARD:12744"} subset: ordo_clinical_syndrome {source="Orphanet:2978"} synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern] synonym: "cipo" EXACT [Orphanet:2978] synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic] +xref: GARD:12744 {source="Orphanet:2978"} xref: ICD10CM:K59.8 {source="Orphanet:2978/attributed", source="Orphanet:2978/ntbt", source="Orphanet:2978"} xref: Orphanet:2978 {source="MONDO:equivalentTo"} xref: SCTID:235828008 {source="MONDO:equivalentTo"} @@ -340909,7 +354691,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12744/chroni id: MONDO:0017575 name: mitochondrial neurogastrointestinal encephalomyopathy def: "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." [Orphanet:298] -subset: gard_rare +subset: gard_rare {source="GARD:9920"} subset: ordo_disease {source="Orphanet:298"} synonym: "Mitochondrial neurogastrointestinal encephalopathy" EXACT [NCIT:C119678] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920] @@ -340922,6 +354704,7 @@ synonym: "OGIMD" RELATED ABBREVIATION [GARD:0009920] synonym: "POLIP" RELATED ABBREVIATION [GARD:0009920] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" RELATED [GARD:0009920] synonym: "thymidine phosphorylase deficiency" RELATED [GARD:0009920] +xref: GARD:9920 {source="Orphanet:298"} xref: ICD10CM:G71.3 {source="Orphanet:298/attributed", source="Orphanet:298/ntbt", source="Orphanet:298"} xref: MESH:C537477 {source="MONDO:equivalentTo"} xref: NCIT:C119678 {source="MONDO:equivalentTo"} @@ -340941,11 +354724,13 @@ id: MONDO:0017576 name: 46,XX disorder of sex development def: "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." [NCIT:C127169] subset: disease_grouping +subset: gard_rare {source="GARD:18783"} subset: ordo_group_of_disorders {source="Orphanet:2982"} synonym: "46,XX differences of Sex development" EXACT [NCIT:C127169] synonym: "46,XX disorders of Sex development" EXACT [NCIT:C127169] synonym: "46,XX DSD" EXACT [Orphanet:2982] synonym: "female pseudohermaphroditism" EXACT [Orphanet:2982] +xref: GARD:18783 {source="Orphanet:2982"} xref: ICD10CM:Q56.2 {source="Orphanet:2982", source="Orphanet:2982/ntbt"} xref: MESH:D058489 {source="Orphanet:2982", source="MONDO:equivalentTo", source="Orphanet:2982/e"} xref: NCIT:C127169 {source="MONDO:equivalentTo"} @@ -340961,6 +354746,7 @@ is_a: MONDO:0002145 {source="MESH:D058489", source="NCIT:C127169", source="Orpha id: MONDO:0017577 name: spontaneous periodic hypothermia def: "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." [Orphanet:29822] +subset: gard_rare {source="GARD:4815"} subset: ordo_disease {source="Orphanet:29822"} synonym: "episodic spontaneous hypothermia" EXACT [Orphanet:29822] synonym: "recurrent spontaneous hypothermia with hypoplasia of the corpus callosum" RELATED [GARD:0004815] @@ -340968,6 +354754,7 @@ synonym: "Shapiro syndrome" EXACT [Orphanet:29822] synonym: "Shapiro's syndrome" RELATED [GARD:0004815] synonym: "spontaneous periodic hypothermia syndrome" RELATED [GARD:0004815] synonym: "spontaneous recurrent hypothermia syndrome" RELATED [GARD:0004815] +xref: GARD:4815 {source="Orphanet:29822"} xref: ICD10CM:G90.8 {source="Orphanet:29822/ntbt", source="Orphanet:29822"} xref: MESH:C537594 {source="MONDO:equivalentTo"} xref: Orphanet:29822 {source="MONDO:equivalentTo"} @@ -340979,7 +354766,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare id: MONDO:0017578 name: disorder of thiamine metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:21231"} subset: ordo_group_of_disorders {source="Orphanet:298644"} +xref: GARD:21231 {source="Orphanet:298644"} xref: Orphanet:298644 {source="MONDO:equivalentTo"} xref: UMLS:CN227150 {source="MONDO:equivalentTo"} is_a: MONDO:0017758 {source="Orphanet:298644"} ! disorder of vitamin and non-protein cofactor absorption and transport @@ -340989,7 +354778,7 @@ relationship: disease_disrupts GO:0015888 ! thiamine transport id: MONDO:0017579 name: Baraitser-Winter cerebrofrontofacial syndrome def: "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." [Orphanet:2995] -subset: gard_rare +subset: gard_rare {source="GARD:5279"} subset: ordo_malformation_syndrome {source="Orphanet:2995"} synonym: "Baraitser-winter syndrome" EXACT [MONDO:0000719] synonym: "BRWS" RELATED ABBREVIATION [GARD:0005279] @@ -341001,6 +354790,7 @@ synonym: "trigonocephaly ptosis coloboma" RELATED [GARD:0005279] synonym: "trigonocephaly ptosis intellectual disability" RELATED [GARD:0005279] synonym: "trigonocephaly ptosis mental retardation" RELATED DEPRECATED [GARD:0005279] xref: DOID:0060229 {source="MONDO:equivalentTo"} +xref: GARD:5279 {source="Orphanet:2995"} xref: ICD10CM:Q87.0 {source="Orphanet:2995/attributed", source="Orphanet:2995/ntbt", source="Orphanet:2995", source="DOID:0060229"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:243310 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -341018,9 +354808,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5279/baraits id: MONDO:0017580 name: 11p15.4 microduplication syndrome def: "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." [Orphanet:300305] +subset: gard_rare {source="GARD:21232"} subset: ordo_malformation_syndrome {source="Orphanet:300305"} synonym: "dup(11)p(15.4)" EXACT [Orphanet:300305] synonym: "trisomy 11p15.4" EXACT [Orphanet:300305] +xref: GARD:21232 {source="Orphanet:300305"} xref: Orphanet:300305 {source="MONDO:equivalentTo"} xref: UMLS:CN203376 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:300305"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -341035,10 +354827,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017581 name: obsolete familial infantile gigantism +subset: gard_rare {source="GARD:17370"} synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373] synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373] +xref: GARD:17370 {source="MONDO:obsoleteEquivalent", source="Orphanet:300373"} xref: ICD10CM:E22.0 {source="Orphanet:300373/attributed", source="Orphanet:300373/ntbt", source="Orphanet:300373"} xref: Orphanet:300373 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203384 {source="MONDO:obsoleteEquivalent"} @@ -341051,6 +354845,7 @@ is_obsolete: true id: MONDO:0017582 name: pituitary adenocarcinoma def: "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." [NCIT:C4536] +subset: gard_rare {source="GARD:9371"} subset: ordo_disease {source="Orphanet:300385"} synonym: "cancer of pituitary" BROAD [NCIT:C4536] synonym: "cancer of pituitary gland" BROAD [NCIT:C4536] @@ -341068,6 +354863,7 @@ synonym: "pituitary gland cancer, NOS" BROAD EXCLUDE [NCIT:C4536] synonym: "pituitary gland carcinoma" EXACT [NCIT:C4536] synonym: "PTCA" RELATED ABBREVIATION [ONCOTREE:PTCA] xref: DOID:4916 {source="MONDO:equivalentTo"} +xref: GARD:9371 {source="Orphanet:300385"} xref: HP:0011763 {source="MONDO:otherHierarchy"} xref: ICD10CM:C75.1 {source="Orphanet:300385/ntbt", source="Orphanet:300385"} xref: ICDO:8272/3 {source="NCIT:C4536"} @@ -341090,7 +354886,9 @@ property_value: IAO:0000589 "pituitary adenocarcinoma (disease)" xsd:string id: MONDO:0017583 name: mirror polydactyly-vertebral segmentation-limbs defects syndrome def: "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." [Orphanet:3004] +subset: gard_rare {source="GARD:18784"} subset: ordo_malformation_syndrome {source="Orphanet:3004"} +xref: GARD:18784 {source="Orphanet:3004"} xref: ICD10CM:Q87.2 {source="Orphanet:3004", source="Orphanet:3004/attributed", source="Orphanet:3004/ntbt"} xref: Orphanet:3004 {source="MONDO:equivalentTo"} xref: UMLS:CN203387 {source="MONDO:equivalentTo"} @@ -341100,7 +354898,9 @@ is_a: MONDO:0002254 {source="Orphanet:3004"} ! syndromic disease id: MONDO:0017584 name: Sagliker syndrome def: "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" [PMID:15490409, PMID:27545627] +subset: gard_rare {source="GARD:21233"} subset: ordo_clinical_situation {source="Orphanet:300493"} +xref: GARD:21233 {source="Orphanet:300493"} xref: Orphanet:300493 {source="MONDO:equivalentTo"} xref: UMLS:CN203388 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:300493"} ! bone disorder @@ -341110,9 +354910,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684"} ! rare [Term] id: MONDO:0017585 name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome -subset: gard_rare {source="GARD:0011006"} +subset: gard_rare {source="GARD:11006"} subset: ordo_disease {source="Orphanet:300501"} synonym: "multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus" RELATED [GARD:0011006] +xref: GARD:11006 {source="Orphanet:300501"} xref: Orphanet:300501 {source="MONDO:equivalentTo"} xref: UMLS:CN203391 {source="MONDO:equivalentTo"} is_a: MONDO:0016752 {source="Orphanet:300501"} ! benign peripheral nerve sheath tumor @@ -341122,9 +354923,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11006/painfu id: MONDO:0017586 name: onychocytic matricoma def: "Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision." [https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma] -subset: gard_rare {source="GARD:0011007"} +subset: gard_rare {source="GARD:11007"} subset: ordo_disease {source="Orphanet:300504"} synonym: "acanthoma of the nail matrix" EXACT [Orphanet:300504] +xref: GARD:11007 {source="Orphanet:300504"} xref: Orphanet:300504 {source="MONDO:equivalentTo"} xref: UMLS:CN203392 {source="MONDO:equivalentTo"} is_a: MONDO:0017588 {source="Orphanet:300504"} ! nail tumor @@ -341134,6 +354936,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11007/onycho id: MONDO:0017587 name: onychomatricoma def: "A neoplasm involving a UBERON:0002283." [MONDO:patterns/neoplasm] +subset: gard_rare {source="GARD:21234"} subset: ordo_disease {source="Orphanet:300512"} synonym: "nail matrix neoplasm" EXACT [] synonym: "nail matrix tumor" EXACT [MONDO:patterns/neoplasm] @@ -341141,6 +354944,7 @@ synonym: "nail matrix tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nail matrix" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of nail matrix" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of nail matrix" EXACT OMO:0003005 [] +xref: GARD:21234 {source="Orphanet:300512"} xref: Orphanet:300512 {source="MONDO:equivalentTo"} xref: UMLS:CN203393 {source="MONDO:equivalentTo"} is_a: MONDO:0017588 {source="MONDO:Redundant", source="Orphanet:300512"} ! nail tumor @@ -341152,6 +354956,7 @@ id: MONDO:0017588 name: nail tumor def: "A neoplasm involving a nail." [MONDO:patterns/neoplasm] subset: disease_grouping +subset: gard_rare {source="GARD:21235"} subset: ordo_group_of_disorders {source="Orphanet:300515"} synonym: "nail neoplasm" EXACT [] synonym: "nail neoplasm (disease)" EXACT [MONDO:patterns/location] @@ -341161,6 +354966,7 @@ synonym: "rare nail tumor" RELATED [Orphanet:300515] synonym: "rare nail tumour" RELATED OMO:0003005 [] synonym: "tumor of nail" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of nail" EXACT OMO:0003005 [] +xref: GARD:21235 {source="Orphanet:300515"} xref: Orphanet:300515 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001705 ! nail @@ -341170,8 +354976,10 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:300515"} ! obs id: MONDO:0017589 name: follicular cholangitis and pancreatitis def: "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." [Orphanet:300552] +subset: gard_rare {source="GARD:21236"} subset: ordo_disease {source="Orphanet:300552"} synonym: "follicular pancreatocholangitis" EXACT [Orphanet:300552] +xref: GARD:21236 {source="Orphanet:300552"} xref: Orphanet:300552 {source="MONDO:equivalentTo"} is_a: MONDO:0002356 {source="Orphanet:300552"} ! pancreas disorder is_a: MONDO:0004868 {source="Orphanet:300552"} ! biliary tract disorder @@ -341181,6 +354989,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source=" id: MONDO:0017590 name: carcinoma of the ampulla of vater def: "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C3908] +subset: gard_rare {source="GARD:21237"} subset: ordo_disease {source="Orphanet:300557"} synonym: "AMPCA" RELATED ABBREVIATION [ONCOTREE:AMPCA] synonym: "ampulla of Vater cancer" EXACT [NCIT:C3908] @@ -341193,6 +355002,7 @@ synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4932 {source="MONDO:equivalentTo"} xref: EFO:1000079 {source="MONDO:equivalentTo"} +xref: GARD:21237 {source="Orphanet:300557"} xref: ICD10CM:C24.1 {source="Orphanet:300557", source="Orphanet:300557/ntbt"} xref: MedDRA:10048853 {source="Orphanet:300557", source="Orphanet:300557/e"} xref: NCIT:C3908 {source="DOID:4932", source="MONDO:equivalentTo", source="EFO:1000079"} @@ -341209,8 +355019,10 @@ intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla [Term] id: MONDO:0017591 name: combined pulmonary fibrosis-emphysema syndrome +subset: gard_rare {source="GARD:21238"} subset: ordo_disease {source="Orphanet:300564"} synonym: "CPFE" EXACT ABBREVIATION [Orphanet:300564] +xref: GARD:21238 {source="Orphanet:300564"} xref: ICD10CM:J84.1 {source="Orphanet:300564/ntbt", source="Orphanet:300564"} xref: Orphanet:300564 {source="MONDO:equivalentTo"} xref: UMLS:CN203401 {source="MONDO:equivalentTo"} @@ -341220,7 +355032,9 @@ is_a: MONDO:0002429 {source="Orphanet:300564"} ! idiopathic interstitial pneumon id: MONDO:0017592 name: staphylococcal toxemia subset: disease_grouping +subset: gard_rare {source="GARD:21239"} subset: ordo_group_of_disorders {source="Orphanet:300579"} +xref: GARD:21239 {source="Orphanet:300579"} xref: MedDRA:10041932 {source="Orphanet:300579", source="Orphanet:300579/e"} xref: Orphanet:300579 {source="MONDO:equivalentTo"} xref: UMLS:C0854511 {source="MONDO:equivalentTo", source="Orphanet:300579", source="Orphanet:300579/e"} @@ -341232,12 +355046,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare id: MONDO:0017593 name: juvenile amyotrophic lateral sclerosis def: "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." [Orphanet:300605] -subset: gard_rare {source="GARD:0011901"} +subset: gard_rare {source="GARD:11901"} subset: ordo_disease {source="Orphanet:300605"} synonym: "amyotrophic lateral sclerosis, juvenile" RELATED [GARD:0011901] synonym: "JALS" EXACT ABBREVIATION [Orphanet:300605] synonym: "juvenile Charcot disease" EXACT [Orphanet:300605] synonym: "juvenile Lou Gehrig disease" EXACT [Orphanet:300605] +xref: GARD:11901 {source="Orphanet:300605"} xref: ICD10CM:G12.2 {source="Orphanet:300605/attributed", source="Orphanet:300605/ntbt", source="Orphanet:300605"} xref: Orphanet:300605 {source="MONDO:equivalentTo"} xref: SCTID:718555006 {source="MONDO:equivalentTo"} @@ -341252,11 +355067,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11901/juveni id: MONDO:0017594 name: indolent B-cell non-Hodgkin lymphoma subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:21244"} subset: ordo_group_of_disorders {source="Orphanet:300842"} synonym: "B cell lymphoma, indolent" RELATED [GARD:0010482] synonym: "indolent B cell lymphoma" RELATED [GARD:0010482] synonym: "indolent B-cell NHL" EXACT [Orphanet:300842] +xref: GARD:21244 {source="Orphanet:300842"} xref: NCIT:C171299 {source="MONDO:equivalentTo"} xref: Orphanet:300842 {source="MONDO:equivalentTo"} is_a: MONDO:0015759 {source="Orphanet:300842"} ! B-cell non-Hodgkin lymphoma @@ -341266,8 +355082,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10482/indole id: MONDO:0017595 name: aggressive B-cell non-Hodgkin lymphoma subset: disease_grouping +subset: gard_rare {source="GARD:21245"} subset: ordo_group_of_disorders {source="Orphanet:300846"} synonym: "aggressive B-cell NHL" EXACT [Orphanet:300846] +xref: GARD:21245 {source="Orphanet:300846"} xref: NCIT:C178541 {source="MONDO:equivalentTo"} xref: Orphanet:300846 {source="MONDO:equivalentTo"} is_a: MONDO:0015759 {source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma @@ -341276,6 +355094,7 @@ is_a: MONDO:0015759 {source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma id: MONDO:0017596 name: diffuse large B-cell lymphoma of the central nervous system def: "A diffuse large B-cell lymphoma arising from the central nervous system." [NCIT:P378] +subset: gard_rare {source="GARD:21246"} subset: ordo_disease {source="Orphanet:300849"} synonym: "central nervous system diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C71720] synonym: "CNS DLBCL" EXACT [NCIT:C71720] @@ -341284,6 +355103,7 @@ synonym: "DLBCL of the CNS" EXACT [Orphanet:300849] synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720] synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720] xref: DOID:0081313 {source="MONDO:equivalentTo"} +xref: GARD:21246 {source="Orphanet:300849"} xref: ICD10CM:C83.3 {source="Orphanet:300849/ntbt", source="Orphanet:300849"} xref: ICDO:9680/3 {source="NCIT:C71720"} xref: NCIT:C71720 {source="MONDO:equivalentTo"} @@ -341299,12 +355119,13 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0017597 name: T-cell/histiocyte rich large B cell lymphoma def: "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." [Orphanet:300857] -subset: gard_rare {source="GARD:0012257"} +subset: gard_rare {source="GARD:12257"} subset: ordo_disease {source="Orphanet:300857"} synonym: "T-cell rich/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496] synonym: "T-cell/histiocyte rich lymphoma" EXACT [NCIT:C9496] synonym: "T-cell/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496] synonym: "THRLBCL" EXACT ABBREVIATION [ONCOTREE:THRLBCL, Orphanet:300857] +xref: GARD:12257 {source="Orphanet:300857"} xref: ICD10CM:C83.3 {source="Orphanet:300857", source="Orphanet:300857/ntbt"} xref: ICDO:9680/3 {source="NCIT:C9496"} xref: ICDO:9688/3 {source="NCIT:C9496"} @@ -341319,6 +355140,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12257/t-cell id: MONDO:0017598 name: primary cutaneous anaplastic large cell lymphoma def: "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." [Orphanet:300865] +subset: gard_rare {source="GARD:21247"} subset: ordo_disease {source="Orphanet:300865"} synonym: "ALCL, cutaneous" EXACT [NCIT:C6860] synonym: "anaplastic large-cell lymphoma, primary cutaneous type" EXACT [NCIT:C6860] @@ -341330,6 +355152,7 @@ synonym: "primary cutaneous CD30 Positive anaplastic large cell lymphoma" EXACT synonym: "primary cutaneous CD30+ ALCL" EXACT [NCIT:C6860] synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [NCIT:C6860] synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865] +xref: GARD:21247 {source="Orphanet:300865"} xref: ICD10CM:C86.6 {source="Orphanet:300865", source="Orphanet:300865/ntbt"} xref: MedDRA:10065863 {source="Orphanet:300865", source="Orphanet:300865/e"} xref: MESH:D054446 {source="MONDO:equivalentTo"} @@ -341346,9 +355169,11 @@ is_a: MONDO:0020325 {source="NCIT:C6860"} ! anaplastic large cell lymphoma id: MONDO:0017599 name: splenic diffuse red pulp small B-cell lymphoma def: "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." [Orphanet:300869] +subset: gard_rare {source="GARD:21248"} subset: ordo_disease {source="Orphanet:300869"} synonym: "SDRPL" EXACT ABBREVIATION [ONCOTREE:SDRPL, Orphanet:300869] synonym: "splenic diffuse red pulp lymphoma" EXACT [Orphanet:300869] +xref: GARD:21248 {source="Orphanet:300869"} xref: ICD10CM:C83.0 {source="Orphanet:300869/ntbt", source="Orphanet:300869"} xref: ICDO:9591/3 {source="NCIT:C80309"} xref: NCIT:C80309 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -341362,6 +355187,7 @@ is_a: MONDO:0017604 {source="Orphanet:300869"} ! marginal zone lymphoma id: MONDO:0017600 name: hairy cell leukemia variant def: "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." [Orphanet:300878] +subset: gard_rare {source="GARD:21249"} subset: ordo_disease {source="Orphanet:300878"} synonym: "hairy cell leukemia variant" EXACT [DOID:713, NCIT:C7401] synonym: "HCL-V" EXACT [NCIT:C7401] @@ -341371,6 +355197,7 @@ synonym: "prolymphocytic variant of hairy cell leukaemia" EXACT OMO:0003005 [] synonym: "prolymphocytic variant of hairy cell leukemia" EXACT [NCIT:C7401, Orphanet:300878] synonym: "prolymphocytic variant of HCL" EXACT [Orphanet:300878] xref: DOID:713 {source="MONDO:equivalentTo"} +xref: GARD:21249 {source="Orphanet:300878"} xref: ICD10CM:C91.4 {source="Orphanet:300878", source="Orphanet:300878/ntbt"} xref: ICDO:9591/3 {source="NCIT:C7401"} xref: MedDRA:10019054 {source="Orphanet:300878", source="Orphanet:300878/e"} @@ -341388,8 +355215,10 @@ is_a: MONDO:0018935 {source="DOID:713"} ! hairy cell leukemia id: MONDO:0017601 name: diffuse large B-cell lymphoma with chronic inflammation def: "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." [Orphanet:300888] +subset: gard_rare {source="GARD:21250"} subset: ordo_disease {source="Orphanet:300888"} synonym: "DLBCL with chronic inflammation" EXACT [Orphanet:300888] +xref: GARD:21250 {source="Orphanet:300888"} xref: ICD10CM:C83.3 {source="Orphanet:300888", source="Orphanet:300888/ntbt"} xref: Orphanet:300888 {source="MONDO:equivalentTo"} is_a: MONDO:0017343 {source="Orphanet:300888"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder @@ -341399,6 +355228,7 @@ is_a: MONDO:0018905 {source="Orphanet:300888"} ! diffuse large B-cell lymphoma id: MONDO:0017602 name: ALK-positive anaplastic large cell lymphoma def: "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300895] +subset: gard_rare {source="GARD:21251"} subset: ordo_histopathological_subtype {source="Orphanet:300895"} synonym: "ALCL, ALK+" EXACT [NCIT:C37193] synonym: "ALK+ ALCL" EXACT [Orphanet:300895] @@ -341406,6 +355236,7 @@ synonym: "ALK+ anaplastic large cell lymphoma" EXACT [Orphanet:300895] synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193] synonym: "ALKoma" EXACT [NCIT:C37193] synonym: "anaplastic large cell lymphoma, ALK-positive" EXACT [NCIT:C37193] +xref: GARD:21251 {source="Orphanet:300895"} xref: ICD10CM:C84.6 {source="Orphanet:300895", source="Orphanet:300895/e"} xref: ICDO:9714/3 {source="NCIT:C37193"} xref: NCIT:C37193 {source="MONDO:equivalentTo"} @@ -341417,6 +355248,7 @@ is_a: MONDO:0020325 {source="NCIT:C37193", source="Orphanet:300895"} ! anaplasti id: MONDO:0017603 name: ALK-negative anaplastic large cell lymphoma def: "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300903] +subset: gard_rare {source="GARD:21252"} subset: ordo_histopathological_subtype {source="Orphanet:300903"} synonym: "ALCL, ALK-" EXACT [NCIT:C37194] synonym: "ALK- ALCL" EXACT [Orphanet:300903] @@ -341424,6 +355256,7 @@ synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903] synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194] synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194] xref: EFO:1000083 {source="MONDO:equivalentTo"} +xref: GARD:21252 {source="Orphanet:300903"} xref: ICD10CM:C84.7 {source="Orphanet:300903/e", source="Orphanet:300903"} xref: ICDO:9702/3 {source="NCIT:C37194"} xref: NCIT:C37194 {source="MONDO:equivalentTo", source="EFO:1000083"} @@ -341436,6 +355269,7 @@ id: MONDO:0017604 name: marginal zone lymphoma def: "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." [NCIT:C4341] subset: disease_grouping +subset: gard_rare {source="GARD:13237"} subset: ordo_group_of_disorders {source="Orphanet:300912"} synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern] synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location] @@ -341445,6 +355279,7 @@ synonym: "MZBCL" EXACT ABBREVIATION [NCIT:C4341] synonym: "MZL" EXACT ABBREVIATION [NCIT:C4341] xref: DOID:0050748 {source="MONDO:equivalentTo"} xref: EFO:1000630 {source="MONDO:equivalentTo"} +xref: GARD:13237 {source="Orphanet:300912"} xref: ICDO:9699/3 {source="NCIT:C4341"} xref: NCIT:C4341 {source="EFO:1000630", source="MONDO:equivalentTo"} xref: ONCOTREE:MZL {source="MONDO:equivalentTo"} @@ -341475,11 +355310,13 @@ replaced_by: MONDO:0005769 id: MONDO:0017607 name: caudal regression sequence def: "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." [Orphanet:3027] +subset: gard_rare {source="GARD:6007"} subset: ordo_malformation_syndrome {source="Orphanet:3027"} synonym: "caudal dysplasia" EXACT [Orphanet:3027] synonym: "sacral agenesis syndrome" EXACT [Orphanet:3027] synonym: "sacral regression syndrome" EXACT [Orphanet:3027] xref: DOID:0080700 {source="MONDO:equivalentTo"} +xref: GARD:6007 {source="Orphanet:3027"} xref: ICD10CM:Q76.0 {source="Orphanet:3027/attributed", source="Orphanet:3027/ntbt", source="Orphanet:3027"} xref: MedDRA:10054842 {source="Orphanet:3027", source="Orphanet:3027/e"} xref: MedDRA:10059387 {source="Orphanet:3027", source="Orphanet:3027/e"} @@ -341506,9 +355343,11 @@ replaced_by: MONDO:0006543 id: MONDO:0017609 name: renal tubular dysgenesis def: "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." [Orphanet:3033] +subset: gard_rare {source="GARD:379"} subset: ordo_malformation_syndrome {source="Orphanet:3033"} synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033] synonym: "renotubular dysgenesis" EXACT [Orphanet:3033] +xref: GARD:379 {source="Orphanet:3033"} xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"} xref: Orphanet:3033 {source="MONDO:equivalentTo"} xref: SCTID:702397002 {source="MONDO:equivalentTo"} @@ -341520,13 +355359,14 @@ id: MONDO:0017610 name: epidermolysis bullosa simplex def: "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." [Orphanet:304] subset: disease_grouping -subset: gard_rare {source="GARD:0010752"} +subset: gard_rare {source="GARD:10752"} subset: ordo_group_of_disorders {source="Orphanet:304"} synonym: "EBS" EXACT ABBREVIATION [Orphanet:304] synonym: "EEB" EXACT ABBREVIATION [Orphanet:304] synonym: "epidermolysis bullosa intraepidermic" RELATED [GARD:0010752] synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644] xref: DOID:4644 {source="MONDO:equivalentTo"} +xref: GARD:10752 {source="Orphanet:304"} xref: ICD10CM:Q81.0 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="Orphanet:304/e", source="Orphanet:304/specific"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016110 {source="DOID:4644", source="MONDO:equivalentTo"} @@ -341546,6 +355386,7 @@ id: MONDO:0017611 name: pituitary tumor def: "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." [NCIT:C3330] subset: disease_grouping +subset: gard_rare {source="GARD:21253"} subset: ordo_group_of_disorders {source="Orphanet:304055"} synonym: "neoplasm of pituitary" EXACT [NCIT:C3330] synonym: "neoplasm of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330] @@ -341564,6 +355405,7 @@ synonym: "tumour of pituitary" EXACT OMO:0003005 [] synonym: "tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "tumour of the pituitary" EXACT OMO:0003005 [] synonym: "tumour of the pituitary gland" EXACT OMO:0003005 [] +xref: GARD:21253 {source="Orphanet:304055"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3330 {source="MONDO:equivalentTo"} xref: Orphanet:304055 {source="MONDO:equivalentTo"} @@ -341584,7 +355426,7 @@ id: MONDO:0017612 name: junctional epidermolysis bullosa def: "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." [Orphanet:305] subset: disease_grouping -subset: gard_rare {source="GARD:0002152"} +subset: gard_rare {source="GARD:2152"} subset: ordo_group_of_disorders {source="Orphanet:305"} synonym: "congenital junctional epidermolysis bullosa" EXACT [] synonym: "EBJ" EXACT ABBREVIATION [Orphanet:305] @@ -341594,6 +355436,7 @@ synonym: "epidermolysis bullosa, junctional" RELATED [GARD:0002152] synonym: "JEB" EXACT ABBREVIATION [Orphanet:305] synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_PREFERRED [] xref: DOID:3209 {source="MONDO:equivalentTo"} +xref: GARD:2152 {source="Orphanet:305"} xref: MESH:D016109 {source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209", source="Orphanet:305/e"} xref: NCIT:C90598 {source="MONDO:equivalentTo", source="DOID:3209"} xref: OMIMPS:226650 {source="MONDO:equivalentTo"} @@ -341611,7 +355454,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2152/junctio [Term] id: MONDO:0017613 name: intellectual disability-hypotonia-skin hyperpigmentation syndrome -subset: gard_rare subset: ordo_disease {source="Orphanet:3050"} synonym: "Medrano Roldan syndrome" RELATED [GARD:0003441] synonym: "Medrano-Roldan syndrome" EXACT [Orphanet:3050] @@ -341626,11 +355468,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3441/medrano id: MONDO:0017614 name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome def: "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." [Orphanet:3055] +subset: gard_rare {source="GARD:345"} subset: ordo_malformation_syndrome {source="Orphanet:3055"} synonym: "Sex-linked intellectual disability, short stature, obesity and hypogonadism" RELATED [GARD:0000345] synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism" RELATED DEPRECATED [GARD:0000345] synonym: "X-linked intellectual disability - short stature – obesity" RELATED [GARD:0000345] synonym: "Young-Hughes syndrome" EXACT [Orphanet:3055] +xref: GARD:345 {source="Orphanet:3055"} xref: ICD10CM:Q87.8 {source="Orphanet:3055/attributed", source="Orphanet:3055/ntbt", source="Orphanet:3055"} xref: MESH:C536715 {source="MONDO:equivalentTo"} xref: Orphanet:3055 {source="MONDO:equivalentTo"} @@ -341644,7 +355488,7 @@ id: MONDO:0017615 name: benign familial infantile epilepsy def: "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." [Orphanet:306] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:857"} subset: ordo_disease {source="Orphanet:306"} synonym: "benign familial infantile convulsion" EXACT [DOID:0060169] synonym: "benign familial infantile convulsions" EXACT [Orphanet:306] @@ -341654,6 +355498,7 @@ synonym: "BFIE" EXACT ABBREVIATION [DOID:0060169, Orphanet:306] synonym: "BFIS" EXACT ABBREVIATION [Orphanet:306] synonym: "seizures, benign familial infantile" EXACT [OMIMPS:601764] xref: DOID:0060169 {source="MONDO:equivalentTo"} +xref: GARD:857 {source="Orphanet:306"} xref: ICD10CM:G40.3 {source="Orphanet:306/attributed", source="Orphanet:306/ntbt", source="Orphanet:306"} xref: ICD9:V17.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:601764 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -341678,6 +355523,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017617 name: acquired adult-onset immunodeficiency def: "A acquired immunodeficiency that occurs in an adult." [MONDO:patterns/adult] +subset: gard_rare {source="GARD:11992"} subset: ordo_disease {source="Orphanet:306431"} synonym: "acquired immunodeficiency of adults" EXACT [MONDO:patterns/adult] synonym: "adult acquired immunodeficiency" EXACT [] @@ -341686,6 +355532,7 @@ synonym: "adult-onset immunodeficiency due to anti-interferon-gamma autoantibody synonym: "adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies" RELATED [GARD:0011992] synonym: "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" EXACT [Orphanet:306431] synonym: "anti-IFN-gamma autoantibody syndrome" RELATED [GARD:0011992] +xref: GARD:11992 {source="Orphanet:306431"} xref: ICD10CM:D84.8 {source="Orphanet:306431", source="Orphanet:306431/ntbt"} xref: Orphanet:306431 {source="MONDO:equivalentTo"} is_a: MONDO:0017769 {source="Orphanet:306431"} ! acquired immunodeficiency @@ -341779,11 +355626,12 @@ name: PTEN hamartoma tumor syndrome def: "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." [Orphanet:306498] subset: clingen subset: disease_grouping -subset: gard_rare {source="GARD:0012800"} +subset: gard_rare {source="GARD:12800"} subset: ordo_group_of_disorders {source="Orphanet:306498"} synonym: "PHTS" EXACT ABBREVIATION [Orphanet:306498] synonym: "PTEN hamartoma tumor syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0080191 {source="MONDO:equivalentTo"} +xref: GARD:12800 {source="Orphanet:306498"} xref: NCIT:C179915 {source="MONDO:equivalentTo"} xref: Orphanet:306498 {source="MONDO:equivalentTo"} xref: SCTID:722859001 {source="MONDO:equivalentTo"} @@ -341799,10 +355647,11 @@ id: MONDO:0017624 name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." [Orphanet:306516] subset: disease_grouping -subset: gard_rare {source="GARD:0009891"} +subset: gard_rare {source="GARD:21254"} subset: ordo_group_of_disorders {source="Orphanet:306516"} synonym: "FHHNC" EXACT ABBREVIATION [Orphanet:306516] synonym: "Michellis-Castrillo syndrome" EXACT [Orphanet:306516] +xref: GARD:21254 {source="Orphanet:306516"} xref: ICD10CM:E83.4 {source="Orphanet:306516", source="Orphanet:306516/attributed", source="Orphanet:306516/ntbt"} xref: Orphanet:306516 {source="MONDO:equivalentTo"} xref: UMLS:C0268451 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009891"} @@ -341835,11 +355684,13 @@ is_a: MONDO:0018100 {source="Orphanet:306522"} ! familial primary hypomagnesemia id: MONDO:0017627 name: congenital hereditary facial paralysis-variable hearing loss syndrome def: "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." [Orphanet:306530] +subset: gard_rare {source="GARD:17379"} subset: ordo_morphological_anomaly {source="Orphanet:306530"} synonym: "congenital hereditary facial palsy with variable deafness" EXACT [Orphanet:306530] synonym: "congenital hereditary facial palsy with variable hearing loss" EXACT [Orphanet:306530] synonym: "congenital hereditary facial paralysis with variable deafness" EXACT [Orphanet:306530] synonym: "congenital hereditary facial paralysis-variable deafness syndrome" EXACT [Orphanet:306530] +xref: GARD:17379 {source="Orphanet:306530"} xref: ICD10CM:Q87.0 {source="Orphanet:306530", source="Orphanet:306530/attributed", source="Orphanet:306530/ntbt"} xref: Orphanet:306530 {source="MONDO:equivalentTo"} xref: SCTID:722389002 {source="MONDO:equivalentTo"} @@ -341851,9 +355702,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017628 name: myospherulosis +subset: gard_rare {source="GARD:21255"} subset: ordo_disease {source="Orphanet:306553"} synonym: "spherulocytosis" EXACT [Orphanet:306553] synonym: "subcutaneous spherulocystic disease" EXACT [Orphanet:306553] +xref: GARD:21255 {source="Orphanet:306553"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:306553 {source="MONDO:equivalentTo"} xref: SCTID:81139004 {source="MONDO:equivalentTo"} @@ -341864,6 +355717,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare [Term] id: MONDO:0017629 name: obsolete sodium channelopathy-related small fiber neuropathy +subset: gard_rare {source="GARD:17382"} +xref: GARD:17382 {source="MONDO:obsoleteEquivalent", source="Orphanet:306577"} xref: Orphanet:306577 {source="MONDO:obsoleteEquivalent"} property_value: confidence "2.5" xsd:double property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -341876,8 +355731,10 @@ is_obsolete: true id: MONDO:0017630 name: X-linked complicated spastic paraplegia type 1 def: "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." [https://www.ncbi.nlm.nih.gov/books/NBK1484, MONDO:cjm] +subset: gard_rare {source="GARD:12525"} subset: ordo_clinical_subtype {source="Orphanet:306617"} synonym: "SPG1" EXACT ABBREVIATION [Orphanet:306617] +xref: GARD:12525 {source="Orphanet:306617"} xref: Orphanet:306617 {source="MONDO:equivalentTo"} xref: UMLS:CN203524 {source="MONDO:equivalentTo"} is_a: MONDO:0017140 {source="Orphanet:306617", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome @@ -341888,8 +355745,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0017631 name: obsolete rare tumor of gallbladder and extrahepatic biliary tract subset: disease_grouping +subset: gard_rare {source="GARD:21256"} subset: ordo_group_of_disorders {source="Orphanet:306633"} synonym: "rare tumor of gallbladder and EBT" EXACT [Orphanet:306633] +xref: GARD:21256 {source="MONDO:obsoleteEquivalent", source="Orphanet:306633"} xref: Orphanet:306633 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0750952 {source="MONDO:obsoleteEquivalent", source="Orphanet:306633"} property_value: IAO:0000231 OMO:0001000 @@ -341902,9 +355761,11 @@ id: MONDO:0017632 name: obsolete rare tumor of liver and intrahepatic biliary tract def: "OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21257"} subset: ordo_group_of_disorders {source="Orphanet:306636"} synonym: "rare liver and intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare tumor of liver and IBT" EXACT [Orphanet:306636] +xref: GARD:21257 {source="Orphanet:306636", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306636 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0023903 {source="MONDO:relatedTo", source="Orphanet:306636"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -341915,7 +355776,9 @@ replaced_by: MONDO:0024477 id: MONDO:0017633 name: obsolete rare intoxication due to medical products subset: disease_grouping +subset: gard_rare {source="GARD:21258"} subset: ordo_group_of_disorders {source="Orphanet:306640"} +xref: GARD:21258 {source="MONDO:obsoleteEquivalent", source="Orphanet:306640"} xref: Orphanet:306640 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227165 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -341927,8 +355790,10 @@ is_obsolete: true id: MONDO:0017634 name: non-infectious anterior uveitis subset: disease_grouping +subset: gard_rare {source="GARD:21260"} subset: ordo_group_of_disorders {source="Orphanet:306648"} synonym: "non-infectious iridocyclitis" EXACT [Orphanet:306648] +xref: GARD:21260 {source="Orphanet:306648"} xref: Orphanet:306648 {source="MONDO:equivalentTo"} xref: SCTID:267619000 {source="MONDO:equivalentTo"} xref: UMLS:C0339317 {source="Orphanet:306648", source="MONDO:equivalentTo", source="Orphanet:306648/e"} @@ -341938,7 +355803,9 @@ is_a: MONDO:0006651 {source="Orphanet:306648"} ! anterior uveitis id: MONDO:0017635 name: obsolete parkinsonian syndrome due to neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: parkinsonian disorder' +subset: gard_rare {source="GARD:21261"} subset: ordo_group_of_disorders {source="Orphanet:306666"} +xref: GARD:21261 {source="MONDO:obsoleteEquivalent", source="Orphanet:306666"} xref: Orphanet:306666 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203530 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -341951,8 +355818,10 @@ consider: MONDO:0021095 id: MONDO:0017636 name: hemiparkinsonism-hemiatrophy syndrome def: "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." [Orphanet:306669] +subset: gard_rare {source="GARD:21262"} subset: ordo_disease {source="Orphanet:306669"} synonym: "Hp-HA syndrome" EXACT [Orphanet:306669] +xref: GARD:21262 {source="Orphanet:306669"} xref: ICD10CM:G20 {source="Orphanet:306669/attributed", source="Orphanet:306669/ntbt", source="Orphanet:306669"} xref: Orphanet:306669 {source="MONDO:equivalentTo"} xref: UMLS:CN203531 {source="MONDO:equivalentTo"} @@ -341962,7 +355831,9 @@ is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder id: MONDO:0017637 name: obsolete rare parkinsonian syndrome due to intoxication subset: disease_grouping +subset: gard_rare {source="GARD:21263"} subset: ordo_group_of_disorders {source="Orphanet:306679"} +xref: GARD:21263 {source="Orphanet:306679", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306679 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203533 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -341974,10 +355845,12 @@ is_obsolete: true id: MONDO:0017638 name: manganese poisoning def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149] +subset: gard_rare {source="GARD:21264"} subset: ordo_disease {source="Orphanet:306682"} synonym: "manganese intoxication" EXACT [Orphanet:306682] synonym: "Manganism" EXACT [Orphanet:306682] xref: EFO:1001808 {source="MONDO:equivalentTo"} +xref: GARD:21264 {source="Orphanet:306682"} xref: ICD10CM:T57.2 {source="Orphanet:306682", source="Orphanet:306682/e"} xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058951 {source="Orphanet:306682", source="Orphanet:306682/e"} @@ -341994,8 +355867,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare [Term] id: MONDO:0017639 name: carbon monoxide-induced parkinsonism +subset: gard_rare {source="GARD:21265"} subset: ordo_disease {source="Orphanet:306686"} synonym: "CO-induced parkinsonism" EXACT [Orphanet:306686] +xref: GARD:21265 {source="Orphanet:306686"} xref: ICD10CM:G21.2 {source="Orphanet:306686/ntbt", source="Orphanet:306686"} xref: Orphanet:306686 {source="MONDO:equivalentTo"} xref: SCTID:230293003 {source="MONDO:equivalentTo"} @@ -342010,7 +355885,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0017640 name: cyanide-induced parkinsonism def: "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." [Orphanet:306692] +subset: gard_rare {source="GARD:21266"} subset: ordo_disease {source="Orphanet:306692"} +xref: GARD:21266 {source="Orphanet:306692"} xref: ICD10CM:G21.2 {source="Orphanet:306692", source="Orphanet:306692/ntbt"} xref: Orphanet:306692 {source="MONDO:equivalentTo"} xref: SCTID:766872002 {source="MONDO:equivalentTo"} @@ -342025,7 +355902,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0017641 name: obsolete miscellaneous movement disorder due to neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' +subset: gard_rare {source="GARD:21267"} subset: ordo_group_of_disorders {source="Orphanet:306695"} +xref: GARD:21267 {source="MONDO:obsoleteEquivalent", source="Orphanet:306695"} xref: Orphanet:306695 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342049,7 +355928,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017643 name: obsolete frontotemporal neurodegeneration with movement disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' +subset: gard_rare {source="GARD:21268"} subset: ordo_group_of_disorders {source="Orphanet:306708"} +xref: GARD:21268 {source="MONDO:obsoleteEquivalent", source="Orphanet:306708"} xref: Orphanet:306708 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227167 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342061,7 +355942,9 @@ consider: MONDO:0005559 id: MONDO:0017644 name: obsolete rare tremor disorder subset: disease_grouping +subset: gard_rare {source="GARD:21269"} subset: ordo_group_of_disorders {source="Orphanet:306712"} +xref: GARD:21269 {source="Orphanet:306712", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306712 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227168 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -342072,7 +355955,9 @@ replaced_by: MONDO:0005395 id: MONDO:0017645 name: obsolete rare choreic movement disorder subset: disease_grouping +subset: gard_rare {source="GARD:21270"} subset: ordo_group_of_disorders {source="Orphanet:306715"} +xref: GARD:21270 {source="MONDO:obsoleteEquivalent", source="Orphanet:306715"} xref: Orphanet:306715 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0008489 {source="Orphanet:306715"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -342083,7 +355968,9 @@ replaced_by: MONDO:0005395 id: MONDO:0017646 name: obsolete neurodegenerative disease with chorea comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' +subset: gard_rare {source="GARD:21271"} subset: ordo_group_of_disorders {source="Orphanet:306719"} +xref: GARD:21271 {source="MONDO:obsoleteEquivalent", source="Orphanet:306719"} xref: Orphanet:306719 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342095,7 +355982,9 @@ consider: MONDO:0005559 id: MONDO:0017647 name: obsolete postinfectious autoimmune disease with chorea comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease' +subset: gard_rare {source="GARD:21272"} subset: ordo_group_of_disorders {source="Orphanet:306727"} +xref: GARD:21272 {source="MONDO:obsoleteEquivalent", source="Orphanet:306727"} xref: Orphanet:306727 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342107,7 +355996,9 @@ consider: MONDO:0007179 id: MONDO:0017648 name: Sydenham chorea def: "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." [GARD:0007716] +subset: gard_rare {source="GARD:7716"} subset: ordo_clinical_situation {source="Orphanet:306731"} +xref: GARD:7716 {source="Orphanet:306731"} xref: ICD10CM:I02.0 {source="Orphanet:306731/nd", source="Orphanet:306731"} xref: ICD10CM:I02.9 {source="Orphanet:306731/nd", source="Orphanet:306731"} xref: MedDRA:10042732 {source="Orphanet:306731/e", source="Orphanet:306731"} @@ -342121,8 +356012,10 @@ relationship: excluded_subClassOf MONDO:0017647 {source="Orphanet:306731"} ! obs id: MONDO:0017649 name: hemidystonia-hemiatrophy syndrome def: "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." [Orphanet:306741] +subset: gard_rare {source="GARD:21273"} subset: ordo_disease {source="Orphanet:306741"} synonym: "HD-HA syndrome" EXACT [Orphanet:306741] +xref: GARD:21273 {source="Orphanet:306741"} xref: Orphanet:306741 {source="MONDO:equivalentTo"} xref: UMLS:CN203542 {source="MONDO:equivalentTo"} is_a: MONDO:0003441 {source="Orphanet:306741"} ! dystonic disorder @@ -342132,7 +356025,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019049"} ! rare id: MONDO:0017650 name: obsolete rare myoclonus subset: disease_grouping +subset: gard_rare {source="GARD:21274"} subset: ordo_group_of_disorders {source="Orphanet:306747"} +xref: GARD:21274 {source="Orphanet:306747", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306747 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227170 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -342142,6 +356037,8 @@ replaced_by: MONDO:0005395 [Term] id: MONDO:0017651 name: obsolete primary myoclonus +subset: gard_rare {source="GARD:21275"} +xref: GARD:21275 {source="MONDO:obsoleteEquivalent", source="Orphanet:306750"} xref: Orphanet:306750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -342152,7 +356049,9 @@ is_obsolete: true id: MONDO:0017652 name: obsolete rare disease with myoclonus as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21276"} subset: ordo_group_of_disorders {source="Orphanet:306753"} +xref: GARD:21276 {source="MONDO:obsoleteEquivalent", source="Orphanet:306753"} xref: Orphanet:306753 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203543 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342165,7 +356064,9 @@ is_obsolete: true id: MONDO:0017653 name: obsolete epilepsy and/or ataxia with myoclonus as major feature subset: disease_grouping +subset: gard_rare {source="GARD:21277"} subset: ordo_group_of_disorders {source="Orphanet:306756"} +xref: GARD:21277 {source="Orphanet:306756", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306756 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -342173,7 +356074,9 @@ is_obsolete: true id: MONDO:0017654 name: obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21278"} subset: ordo_group_of_disorders {source="Orphanet:306759"} +xref: GARD:21278 {source="MONDO:obsoleteEquivalent", source="Orphanet:306759"} xref: Orphanet:306759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI is_obsolete: true @@ -342190,6 +356093,8 @@ is_obsolete: true [Term] id: MONDO:0017656 name: obsolete motor stereotypies +subset: gard_rare {source="GARD:21279"} +xref: GARD:21279 {source="MONDO:obsoleteEquivalent", source="Orphanet:306765"} xref: Orphanet:306765 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -342200,7 +356105,9 @@ is_obsolete: true id: MONDO:0017657 name: obsolete rare paroxysmal movement disorder subset: disease_grouping +subset: gard_rare {source="GARD:21280"} subset: ordo_group_of_disorders {source="Orphanet:306768"} +xref: GARD:21280 {source="Orphanet:306768", source="MONDO:obsoleteEquivalent"} xref: Orphanet:306768 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227171 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342213,7 +356120,9 @@ id: MONDO:0017658 name: hyperekplexia def: "A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia" [Wikipedia:Hyperekplexia] subset: disease_grouping +subset: gard_rare {source="GARD:21281"} subset: ordo_group_of_disorders {source="Orphanet:306773"} +xref: GARD:21281 {source="Orphanet:306773"} xref: ICD10CM:G25.8 {source="Orphanet:306773/ntbt"} xref: MESH:D000071017 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:306773 {source="MONDO:equivalentTo"} @@ -342223,7 +356132,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015143"} ! rare [Term] id: MONDO:0017659 name: sporadic hyperekplexia +subset: gard_rare {source="GARD:21282"} subset: ordo_disease {source="Orphanet:306776"} +xref: GARD:21282 {source="Orphanet:306776"} xref: ICD10CM:G25.8 {source="Orphanet:306776/ntbt", source="Orphanet:306776"} xref: Orphanet:306776 {source="MONDO:equivalentTo"} is_a: MONDO:0017658 {source="Orphanet:306776"} ! hyperekplexia @@ -342232,8 +356143,10 @@ is_a: MONDO:0017658 {source="Orphanet:306776"} ! hyperekplexia id: MONDO:0017660 name: obsolete rare genetic parkinsonian disorder subset: disease_grouping +subset: gard_rare {source="GARD:21283"} subset: ordo_group_of_disorders {source="Orphanet:307052"} synonym: "rare genetic hypokinetic movement disorder" EXACT [Orphanet:307052] +xref: GARD:21283 {source="MONDO:obsoleteEquivalent", source="Orphanet:307052"} xref: Orphanet:307052 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227172 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -342244,7 +356157,9 @@ replaced_by: MONDO:0021095 id: MONDO:0017661 name: obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease subset: disease_grouping +subset: gard_rare {source="GARD:21284"} subset: ordo_group_of_disorders {source="Orphanet:307055"} +xref: GARD:21284 {source="MONDO:obsoleteEquivalent", source="Orphanet:307055"} xref: Orphanet:307055 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203548 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342256,7 +356171,9 @@ is_obsolete: true id: MONDO:0017662 name: obsolete miscellaneous movement disorder due to genetic neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' +subset: gard_rare {source="GARD:21285"} subset: ordo_group_of_disorders {source="Orphanet:307058"} +xref: GARD:21285 {source="MONDO:obsoleteEquivalent", source="Orphanet:307058"} xref: Orphanet:307058 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203549 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342268,8 +356185,11 @@ consider: MONDO:0005395 id: MONDO:0017663 name: obsolete inherited tremor disorder subset: disease_grouping +subset: gard_rare {source="GARD:21287", source="GARD:21286"} subset: ordo_group_of_disorders {source="Orphanet:307061", source="Orphanet:307064"} synonym: "rare genetic myoclonus" EXACT [MONDO:0017664] +xref: GARD:21286 {source="Orphanet:307061", source="MONDO:obsoleteEquivalent"} +xref: GARD:21287 {source="MONDO:obsoleteEquivalent", source="Orphanet:307064"} xref: Orphanet:307061 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307064 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227173 {source="MONDO:obsoleteEquivalent"} @@ -342290,7 +356210,9 @@ replaced_by: MONDO:0017663 id: MONDO:0017665 name: obsolete rare genetic disease with myoclonus as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21288"} subset: ordo_group_of_disorders {source="Orphanet:307067"} +xref: GARD:21288 {source="MONDO:obsoleteEquivalent", source="Orphanet:307067"} xref: Orphanet:307067 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203550 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342304,10 +356226,12 @@ id: MONDO:0017666 name: diffuse palmoplantar keratoderma def: "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality." [https://dermnetnz.org/topics/diffuse-hereditary-palmoplantar-keratodermas, https://orcid.org/0000-0001-5208-3432] subset: disease_grouping +subset: gard_rare {source="GARD:21289"} subset: ordo_group_of_disorders {source="Orphanet:307141"} synonym: "diffuse keratosis palmoplantaris" EXACT [Orphanet:307141] synonym: "diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307141] synonym: "diffuse PPK" EXACT [Orphanet:307141] +xref: GARD:21289 {source="Orphanet:307141"} xref: HP:0007435 xref: ICD10CM:Q82.8 {source="Orphanet:307141", source="Orphanet:307141/attributed", source="Orphanet:307141/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -342320,10 +356244,12 @@ is_a: MONDO:0019272 {source="Orphanet:307141"} ! hereditary palmoplantar keratod id: MONDO:0017667 name: obsolete isolated diffuse palmoplantar keratoderma def: "OBSOLETE. A diffuse palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:21290"} synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148] synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148] synonym: "isolated diffuse PPK" EXACT [Orphanet:307148] synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] +xref: GARD:21290 {source="MONDO:obsoleteEquivalent", source="Orphanet:307148"} xref: ICD10CM:Q82.8 {source="Orphanet:307148/attributed", source="Orphanet:307148/ntbt", source="Orphanet:307148"} xref: Orphanet:307148 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0022584 {source="Orphanet:307148"} @@ -342338,13 +356264,14 @@ is_obsolete: true id: MONDO:0017668 name: intellectual disability-short stature-hypertelorism syndrome def: "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." [Orphanet:3074] -subset: gard_rare +subset: gard_rare {source="GARD:3514"} subset: ordo_malformation_syndrome {source="Orphanet:3074"} synonym: "intellectual deficit - short stature - hypertelorism" RELATED [GARD:0003514] synonym: "intellectual disability short stature hypertelorism" RELATED [GARD:0003514] synonym: "mental retardation short stature hypertelorism" RELATED DEPRECATED [GARD:0003514] synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514, Orphanet:3074] synonym: "Stoll-Géraudel-Chauvin syndrome" RELATED [GARD:0003514] +xref: GARD:3514 {source="Orphanet:3074"} xref: ICD10CM:Q87.8 {source="Orphanet:3074/attributed", source="Orphanet:3074/ntbt", source="Orphanet:3074"} xref: Orphanet:3074 {source="MONDO:equivalentTo", source="GARD:0003514"} xref: UMLS:CN203552 {source="MONDO:equivalentTo"} @@ -342358,8 +356285,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3514/intelle id: MONDO:0017669 name: obsolete disease with diffuse palmoplantar keratoderma as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21291"} subset: ordo_group_of_disorders {source="Orphanet:307711"} synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307711] +xref: GARD:21291 {source="MONDO:obsoleteEquivalent", source="Orphanet:307711"} xref: ICD10CM:Q82.8 {source="Orphanet:307711/attributed", source="Orphanet:307711/ntbt", source="Orphanet:307711"} xref: Orphanet:307711 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203554 {source="MONDO:obsoleteEquivalent"} @@ -342371,7 +356300,9 @@ is_obsolete: true [Term] id: MONDO:0017670 name: obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma +subset: gard_rare {source="GARD:21292"} synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773] +xref: GARD:21292 {source="MONDO:obsoleteEquivalent", source="Orphanet:307773"} xref: ICD10CM:Q82.8 {source="Orphanet:307773", source="Orphanet:307773/attributed", source="Orphanet:307773/ntbt"} xref: Orphanet:307773 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229100 {source="MONDO:obsoleteEquivalent"} @@ -342386,8 +356317,10 @@ is_obsolete: true id: MONDO:0017671 name: obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21293"} subset: ordo_group_of_disorders {source="Orphanet:307804"} synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307804] +xref: GARD:21293 {source="MONDO:obsoleteEquivalent", source="Orphanet:307804"} xref: ICD10CM:Q82.8 {source="Orphanet:307804/attributed", source="Orphanet:307804/ntbt", source="Orphanet:307804"} xref: Orphanet:307804 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203557 {source="MONDO:obsoleteEquivalent"} @@ -342400,10 +356333,12 @@ is_obsolete: true id: MONDO:0017672 name: focal palmoplantar keratoderma subset: disease_grouping +subset: gard_rare {source="GARD:21294"} subset: ordo_group_of_disorders {source="Orphanet:307837"} synonym: "focal keratosis palmoplantaris" EXACT [Orphanet:307837] synonym: "focal palmoplantar hyperkeratosis" EXACT [Orphanet:307837] synonym: "focal PPK" EXACT [Orphanet:307837] +xref: GARD:21294 {source="Orphanet:307837"} xref: ICD10CM:Q82.8 {source="Orphanet:307837/attributed", source="Orphanet:307837/ntbt", source="Orphanet:307837"} xref: Orphanet:307837 {source="MONDO:equivalentTo"} is_a: MONDO:0019272 {source="Orphanet:307837"} ! hereditary palmoplantar keratoderma @@ -342412,10 +356347,12 @@ is_a: MONDO:0019272 {source="Orphanet:307837"} ! hereditary palmoplantar keratod id: MONDO:0017673 name: obsolete isolated focal palmoplantar keratoderma def: "OBSOLETE. A focal palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:21295"} synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846] synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846] synonym: "isolated focal PPK" EXACT [Orphanet:307846] synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] +xref: GARD:21295 {source="Orphanet:307846", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307846/attributed", source="Orphanet:307846/ntbt", source="Orphanet:307846"} xref: Orphanet:307846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -342430,8 +356367,10 @@ id: MONDO:0017674 name: obsolete disease with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping +subset: gard_rare {source="GARD:21296"} subset: ordo_group_of_disorders {source="Orphanet:307871"} synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307871] +xref: GARD:21296 {source="MONDO:obsoleteEquivalent", source="Orphanet:307871"} xref: ICD10CM:Q82.8 {source="Orphanet:307871/attributed", source="Orphanet:307871/ntbt", source="Orphanet:307871"} xref: Orphanet:307871 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203558 {source="MONDO:obsoleteEquivalent"} @@ -342445,11 +356384,13 @@ id: MONDO:0017675 name: punctate palmoplantar keratoderma def: "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [DOID:0060361, Wikipedia:Palmoplantar_keratoderma#Punctate] subset: disease_grouping +subset: gard_rare {source="GARD:21297"} subset: ordo_group_of_disorders {source="Orphanet:307967"} synonym: "punctate keratosis palmoplantaris" EXACT [DOID:0060361, Orphanet:307967] synonym: "punctate palmoplantar hyperkeratosis" EXACT [DOID:0060361, Orphanet:307967] synonym: "punctate PPK" EXACT [Orphanet:307967] xref: DOID:0060361 {source="MONDO:equivalentTo"} +xref: GARD:21297 {source="Orphanet:307967"} xref: ICD10CM:Q82.8 {source="Orphanet:307967/attributed", source="Orphanet:307967/ntbt", source="Orphanet:307967"} xref: Orphanet:307967 {source="MONDO:equivalentTo", source="DOID:0060361"} xref: SCTID:402773000 {source="MONDO:equivalentTo", source="DOID:0060361"} @@ -342460,7 +356401,9 @@ is_a: MONDO:0019272 {source="Orphanet:307967"} ! hereditary palmoplantar keratod [Term] id: MONDO:0017676 name: obsolete marginal papular palmoplantar keratoderma +subset: gard_rare {source="GARD:21298"} synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995] +xref: GARD:21298 {source="MONDO:obsoleteEquivalent", source="Orphanet:307995"} xref: ICD10CM:Q82.8 {source="Orphanet:307995/attributed", source="Orphanet:307995/ntbt", source="Orphanet:307995"} xref: Orphanet:307995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -342473,11 +356416,13 @@ is_obsolete: true [Term] id: MONDO:0017677 name: focal acral hyperkeratosis +subset: gard_rare {source="GARD:21299"} subset: ordo_disease {source="Orphanet:308013"} synonym: "PPKP3 without elastoidosis" EXACT [Orphanet:308013] synonym: "PPPK3 without elastoidosis" EXACT [Orphanet:308013] synonym: "punctate palmoplantar hyperkeratosis type 3 without elastoidosis" EXACT [Orphanet:308013] synonym: "punctate palmoplantar keratoderma type 3 without elastoidosis" EXACT [Orphanet:308013] +xref: GARD:21299 {source="Orphanet:308013"} xref: ICD10CM:Q82.8 {source="Orphanet:308013", source="Orphanet:308013/attributed", source="Orphanet:308013/ntbt"} xref: Orphanet:308013 {source="MONDO:equivalentTo"} xref: SCTID:400115004 {source="MONDO:equivalentTo"} @@ -342491,7 +356436,9 @@ id: MONDO:0017678 name: obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature def: "OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165] comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. +subset: gard_rare {source="GARD:21300"} synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308023] +xref: GARD:21300 {source="MONDO:obsoleteEquivalent", source="Orphanet:308023"} xref: Orphanet:308023 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203565 {source="MONDO:ObsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342503,7 +356450,9 @@ is_obsolete: true id: MONDO:0017679 name: obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. +subset: gard_rare {source="GARD:21301"} synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308031] +xref: GARD:21301 {source="MONDO:obsoleteEquivalent", source="Orphanet:308031"} xref: Orphanet:308031 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203566 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -342514,7 +356463,9 @@ is_obsolete: true [Term] id: MONDO:0017680 name: obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature +subset: gard_rare {source="GARD:21302"} synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308041] +xref: GARD:21302 {source="MONDO:obsoleteEquivalent", source="Orphanet:308041"} xref: Orphanet:308041 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203567 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2317" xsd:anyURI @@ -342526,8 +356477,10 @@ name: erythrokeratoderma variabilis progressiva def: "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." [Orphanet:308166] comment: Reason: duplicate. This will be merged with MONDO:0017851 erythrokeratodermia variabilis subset: disease_grouping +subset: gard_rare {source="GARD:10923"} subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:308166"} +xref: GARD:10923 {source="Orphanet:308166"} xref: ICD10CM:Q82.8 {source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"} xref: Orphanet:308166 {source="MONDO:equivalentTo"} is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma @@ -342539,10 +356492,12 @@ property_value: IAO:0006012 "2023-11-01" xsd:string id: MONDO:0017682 name: intellectual disability-polydactyly-uncombable hair syndrome def: "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." [Orphanet:3082] +subset: gard_rare {source="GARD:3141"} subset: ordo_malformation_syndrome {source="Orphanet:3082"} synonym: "intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED [GARD:0003141] synonym: "Kozlowski-Krajewska syndrome" EXACT [Orphanet:3082] synonym: "mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED DEPRECATED [GARD:0003141] +xref: GARD:3141 {source="Orphanet:3082"} xref: ICD10CM:Q87.2 {source="Orphanet:3082", source="Orphanet:3082/attributed", source="Orphanet:3082/ntbt"} xref: MESH:C537615 {source="MONDO:equivalentTo"} xref: Orphanet:3082 {source="MONDO:equivalentTo"} @@ -342555,8 +356510,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017683 name: methylcobalamin deficiency type cblDv1 +subset: gard_rare {source="GARD:17385"} subset: ordo_clinical_subtype {source="Orphanet:308380"} synonym: "functional methionine synthase deficiency type cblDv1" EXACT [Orphanet:308380] +xref: GARD:17385 {source="Orphanet:308380"} xref: ICD10CM:E72.1 {source="Orphanet:308380/attributed", source="Orphanet:308380/ntbt", source="Orphanet:308380"} xref: Orphanet:308380 {source="MONDO:equivalentTo"} xref: UMLS:C1848552 {source="Orphanet:308380", source="MONDO:notFoundInDiseaseSubset"} @@ -342569,7 +356526,9 @@ property_value: confidence "1.9999999999999996" xsd:double id: MONDO:0017684 name: disorder of beta and omega amino acid metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21303"} subset: ordo_group_of_disorders {source="Orphanet:308407"} +xref: GARD:21303 {source="Orphanet:308407"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:308407 {source="MONDO:equivalentTo"} xref: SCTID:237940008 {source="MONDO:equivalentTo"} @@ -342579,8 +356538,10 @@ is_a: MONDO:0019189 {source="Orphanet:308407"} ! inborn disorder of amino acid a [Term] id: MONDO:0017685 name: vitamin B12-responsive methylmalonic acidemia, type cblDv2 +subset: gard_rare {source="GARD:17391"} subset: ordo_clinical_subtype {source="Orphanet:308442"} synonym: "vitamin B12-responsive methylmalonic aciduria, type cblDv2" EXACT [Orphanet:308442] +xref: GARD:17391 {source="Orphanet:308442"} xref: ICD10CM:E71.1 {source="Orphanet:308442", source="Orphanet:308442/attributed", source="Orphanet:308442/ntbt"} xref: Orphanet:308442 {source="MONDO:equivalentTo"} xref: UMLS:C1848552 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:308442"} @@ -342594,11 +356555,13 @@ id: MONDO:0017686 name: inborn aminoacylase deficiency def: "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21304"} subset: ordo_group_of_disorders {source="Orphanet:308448"} synonym: "aminoacylase deficiency" RELATED [Orphanet:308448] synonym: "inborn aminoacylase activity disorder" EXACT [] synonym: "inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21304 {source="Orphanet:308448"} xref: Orphanet:308448 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -342610,10 +356573,12 @@ id: MONDO:0017687 name: disorder of neutral amino acid transport def: "An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21305"} subset: ordo_group_of_disorders {source="Orphanet:308451"} synonym: "inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn neutral amino acid transport disorder" EXACT [] synonym: "rare inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21305 {source="Orphanet:308451"} xref: ICD10CM:E72.0 {source="Orphanet:308451", source="Orphanet:308451/attributed", source="Orphanet:308451/ntbt"} xref: Orphanet:308451 {source="MONDO:equivalentTo"} xref: UMLS:CN203583 {source="MONDO:equivalentTo"} @@ -342625,7 +356590,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0015804 ! neutral amino a id: MONDO:0017688 name: disorder of glycolysis subset: disease_grouping +subset: gard_rare {source="GARD:21306"} subset: ordo_group_of_disorders {source="Orphanet:308459"} +xref: GARD:21306 {source="Orphanet:308459"} xref: Orphanet:308459 {source="MONDO:equivalentTo"} xref: UMLS:CN227176 {source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308459", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder @@ -342637,7 +356604,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017689 name: disorder of fructose metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21307"} subset: ordo_group_of_disorders {source="Orphanet:308463"} +xref: GARD:21307 {source="Orphanet:308463"} xref: ICD10CM:E74.1 {source="Orphanet:308463/specific", source="Orphanet:308463", source="Orphanet:308463/e"} xref: Orphanet:308463 {source="MONDO:equivalentTo"} xref: SCTID:39452003 {source="MONDO:equivalentTo"} @@ -342650,7 +356619,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006000 ! fructose metabo id: MONDO:0017690 name: disorder of galactose metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21308"} subset: ordo_group_of_disorders {source="Orphanet:308467"} +xref: GARD:21308 {source="Orphanet:308467"} xref: ICD10CM:E74.2 {source="Orphanet:308467/specific", source="Orphanet:308467/e", source="Orphanet:308467"} xref: Orphanet:308467 {source="MONDO:equivalentTo"} xref: SCTID:237963003 {source="MONDO:equivalentTo"} @@ -342662,12 +356633,14 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006012 ! galactose metab [Term] id: MONDO:0017691 name: erythrocyte galactose epimerase deficiency +subset: gard_rare {source="GARD:17392"} subset: ordo_clinical_subtype {source="Orphanet:308473"} synonym: "erythrocyte epimerase deficiency galactosemia" EXACT [Orphanet:308473] synonym: "erythrocyte GALE deficiency" EXACT [Orphanet:308473] synonym: "erythrocyte GALE-D" EXACT [Orphanet:308473] synonym: "erythrocyte UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308473] synonym: "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308473] +xref: GARD:17392 {source="Orphanet:308473"} xref: ICD10CM:E74.2 {source="Orphanet:308473", source="Orphanet:308473/attributed", source="Orphanet:308473/ntbt"} xref: Orphanet:308473 {source="MONDO:equivalentTo"} xref: SCTID:297238008 {source="MONDO:equivalentTo"} @@ -342679,6 +356652,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017692 name: generalized galactose epimerase deficiency +subset: gard_rare {source="GARD:17393"} subset: ordo_clinical_subtype {source="Orphanet:308487"} synonym: "generalised epimerase deficiency galactosemia" EXACT OMO:0003005 [] synonym: "generalised GALE deficiency" EXACT OMO:0003005 [] @@ -342690,6 +356664,7 @@ synonym: "generalized GALE deficiency" EXACT [Orphanet:308487] synonym: "generalized GALE-D" EXACT [Orphanet:308487] synonym: "generalized UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308487] synonym: "generalized uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308487] +xref: GARD:17393 {source="Orphanet:308487"} xref: ICD10CM:E74.2 {source="Orphanet:308487/attributed", source="Orphanet:308487/ntbt", source="Orphanet:308487"} xref: Orphanet:308487 {source="MONDO:equivalentTo"} xref: SCTID:297237003 {source="MONDO:equivalentTo"} @@ -342702,11 +356677,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017693 name: obsolete glycogen storage disease due to glycogen synthase deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' +subset: gard_rare {source="GARD:21309"} subset: ordo_group_of_disorders {source="Orphanet:308520"} synonym: "glycogen storage disease type 0" EXACT [Wikipedia:Glycogen_storage_disease_type_0] synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD0" EXACT ABBREVIATION [Wikipedia:Glycogen_storage_disease_type_0] +xref: GARD:21309 {source="MONDO:obsoleteEquivalent", source="Orphanet:308520"} xref: ICD10CM:E74.0 {source="Orphanet:308520/attributed", source="Orphanet:308520/ntbt", source="Orphanet:308520"} xref: Orphanet:308520 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203589 {source="MONDO:obsoleteEquivalent"} @@ -342719,6 +356696,7 @@ consider: MONDO:0002412 id: MONDO:0017694 name: glycogen storage disease due to acid maltase deficiency, infantile onset def: "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." [Orphanet:308552] +subset: gard_rare {source="GARD:21310"} subset: ordo_clinical_subtype {source="Orphanet:308552"} synonym: "alpha-1,4-glucosidase acid deficiency, infantile onset" EXACT [Orphanet:308552] synonym: "glycogen storage disease type 2, infantile onset" EXACT [Orphanet:308552] @@ -342730,6 +356708,7 @@ synonym: "GSD due to acid maltase deficiency, infantile onset" EXACT [Orphanet:3 synonym: "GSD type 2, infantile onset" EXACT [Orphanet:308552] synonym: "GSD type II, infantile onset" EXACT [Orphanet:308552] synonym: "Pompe disease, infantile onset" EXACT [Orphanet:308552] +xref: GARD:21310 {source="Orphanet:308552"} xref: ICD10CM:E74.0 {source="Orphanet:308552", source="Orphanet:308552/attributed", source="Orphanet:308552/ntbt"} xref: Orphanet:308552 {source="MONDO:equivalentTo"} xref: SCTID:722302009 {source="MONDO:equivalentTo"} @@ -342741,6 +356720,7 @@ is_a: MONDO:0009290 {source="Orphanet:308552"} ! glycogen storage disease II [Term] id: MONDO:0017695 name: glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form +subset: gard_rare {source="GARD:17394"} subset: ordo_clinical_subtype {source="Orphanet:308621"} synonym: "GBE deficiency, progressive hepatic form" EXACT [Orphanet:308621] synonym: "glycogen storage disease type 4, progressive hepatic form" EXACT [Orphanet:308621] @@ -342751,6 +356731,7 @@ synonym: "glycogenosis type IV, progressive hepatic form" EXACT [Orphanet:308621 synonym: "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621] synonym: "GSD type 4, progressive hepatic form" EXACT [Orphanet:308621] synonym: "GSDIV, progressive hepatic form" EXACT [Orphanet:308621] +xref: GARD:17394 {source="Orphanet:308621"} xref: ICD10CM:E74.0 {source="Orphanet:308621/attributed", source="Orphanet:308621/ntbt", source="Orphanet:308621"} xref: Orphanet:308621 {source="MONDO:equivalentTo"} xref: UMLS:CN203594 {source="MONDO:equivalentTo"} @@ -342762,6 +356743,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017696 name: glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form +subset: gard_rare {source="GARD:17395"} subset: ordo_clinical_subtype {source="Orphanet:308638"} synonym: "GBE deficiency, non progressive hepatic form" EXACT [Orphanet:308638] synonym: "glycogen storage disease type 4, non progressive hepatic form" EXACT [Orphanet:308638] @@ -342772,6 +356754,7 @@ synonym: "glycogenosis type IV, non progressive hepatic form" EXACT [Orphanet:30 synonym: "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638] synonym: "GSD type 4, non progressive hepatic form" EXACT [Orphanet:308638] synonym: "GSDIV, non progressive hepatic form" EXACT [Orphanet:308638] +xref: GARD:17395 {source="Orphanet:308638"} xref: ICD10CM:E74.0 {source="Orphanet:308638/attributed", source="Orphanet:308638/ntbt", source="Orphanet:308638"} xref: Orphanet:308638 {source="MONDO:equivalentTo"} xref: UMLS:CN203595 {source="MONDO:equivalentTo"} @@ -342783,6 +356766,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017697 name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form +subset: gard_rare {source="GARD:17396"} subset: ordo_clinical_subtype {source="Orphanet:308655"} synonym: "GBE deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] synonym: "glycogen storage disease type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] @@ -342793,6 +356777,7 @@ synonym: "glycogenosis type IV, fatal perinatal neuromuscular form" EXACT [Orpha synonym: "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] synonym: "GSD type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] synonym: "GSDIV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] +xref: GARD:17396 {source="Orphanet:308655"} xref: ICD10CM:E74.0 {source="Orphanet:308655/attributed", source="Orphanet:308655/ntbt", source="Orphanet:308655"} xref: Orphanet:308655 {source="MONDO:equivalentTo"} xref: UMLS:C1856303 {source="MONDO:equivalentTo", source="Orphanet:308655"} @@ -342804,6 +356789,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017698 name: glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form +subset: gard_rare {source="GARD:17397"} subset: ordo_clinical_subtype {source="Orphanet:308670"} synonym: "GBE deficiency, congenital neuromuscular form" EXACT [Orphanet:308670] synonym: "glycogen storage disease type 4, congenital neuromuscular form" EXACT [Orphanet:308670] @@ -342814,6 +356800,7 @@ synonym: "glycogenosis type IV, congenital neuromuscular form" EXACT [Orphanet:3 synonym: "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670] synonym: "GSD type 4, congenital neuromuscular form" EXACT [Orphanet:308670] synonym: "GSDIV, congenital neuromuscular form" EXACT [Orphanet:308670] +xref: GARD:17397 {source="Orphanet:308670"} xref: ICD10CM:E74.0 {source="Orphanet:308670", source="Orphanet:308670/attributed", source="Orphanet:308670/ntbt"} xref: Orphanet:308670 {source="MONDO:equivalentTo"} xref: UMLS:C1856304 {source="MONDO:equivalentTo", source="Orphanet:308670"} @@ -342827,6 +356814,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017699 name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form +subset: gard_rare {source="GARD:17398"} subset: ordo_clinical_subtype {source="Orphanet:308684"} synonym: "GBE deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] synonym: "glycogen storage disease type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] @@ -342837,6 +356825,7 @@ synonym: "glycogenosis type IV, childhood combined hepatic and myopathic form" E synonym: "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] synonym: "GSD type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] synonym: "GSDIV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] +xref: GARD:17398 {source="Orphanet:308684"} xref: ICD10CM:E74.0 {source="Orphanet:308684", source="Orphanet:308684/attributed", source="Orphanet:308684/ntbt"} xref: MedDRA:10053250 {source="Orphanet:308684", source="Orphanet:308684/e"} xref: Orphanet:308684 {source="MONDO:equivalentTo"} @@ -342849,6 +356838,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017700 name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form +subset: gard_rare {source="GARD:17399"} subset: ordo_clinical_subtype {source="Orphanet:308698"} synonym: "GBE deficiency, childhood neuromuscular form" EXACT [Orphanet:308698] synonym: "glycogen storage disease type 4, childhood neuromuscular form" EXACT [Orphanet:308698] @@ -342859,6 +356849,7 @@ synonym: "glycogenosis type IV, childhood neuromuscular form" EXACT [Orphanet:30 synonym: "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698] synonym: "GSD type 4, childhood neuromuscular form" EXACT [Orphanet:308698] synonym: "GSDIV, childhood neuromuscular form" EXACT [Orphanet:308698] +xref: GARD:17399 {source="Orphanet:308698"} xref: ICD10CM:E74.0 {source="Orphanet:308698/attributed", source="Orphanet:308698/ntbt", source="Orphanet:308698"} xref: Orphanet:308698 {source="MONDO:equivalentTo"} xref: UMLS:C1856305 {source="MONDO:equivalentTo", source="Orphanet:308698"} @@ -342870,6 +356861,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017701 name: glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form +subset: gard_rare {source="GARD:17400"} subset: ordo_clinical_subtype {source="Orphanet:308712"} synonym: "GBE deficiency, adult neuromuscular form" EXACT [Orphanet:308712] synonym: "glycogen storage disease type 4, adult neuromuscular form" EXACT [Orphanet:308712] @@ -342880,6 +356872,7 @@ synonym: "glycogenosis type IV, adult neuromuscular form" EXACT [Orphanet:308712 synonym: "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712] synonym: "GSD type 4, adult neuromuscular form" EXACT [Orphanet:308712] synonym: "GSDIV, adult neuromuscular form" EXACT [Orphanet:308712] +xref: GARD:17400 {source="Orphanet:308712"} xref: ICD10CM:E74.0 {source="Orphanet:308712/attributed", source="Orphanet:308712/ntbt", source="Orphanet:308712"} xref: Orphanet:308712 {source="MONDO:equivalentTo"} xref: UMLS:CN203601 {source="MONDO:equivalentTo"} @@ -342898,8 +356891,10 @@ replaced_by: MONDO:0010613 id: MONDO:0017703 name: disorder of glyoxylate metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21312"} subset: ordo_group_of_disorders {source="Orphanet:308998"} synonym: "disorder of glyoxylate metabolism" EXACT CLINGEN_PREFERRED [Orphanet:308998] +xref: GARD:21312 {source="Orphanet:308998"} xref: Orphanet:308998 {source="MONDO:equivalentTo"} xref: UMLS:CN227177 {source="MONDO:equivalentTo"} is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect @@ -342911,10 +356906,11 @@ id: MONDO:0017704 name: familial partial epilepsy def: "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping -subset: gard_rare {source="GARD:0002173"} +subset: gard_rare {source="GARD:2173"} subset: ordo_group_of_disorders {source="Orphanet:309"} synonym: "epilepsy, partial, familial" RELATED [GARD:0002173] synonym: "hereditary partial epilepsy" EXACT [MONDO:patterns/hereditary] +xref: GARD:2173 {source="Orphanet:309"} xref: ICD10CM:G40.1 {source="Orphanet:309", source="Orphanet:309/attributed", source="Orphanet:309/ntbt"} xref: Orphanet:309 {source="MONDO:equivalentTo"} xref: UMLS:CN227178 {source="MONDO:equivalentTo"} @@ -342929,7 +356925,7 @@ id: MONDO:0017705 name: congenital pulmonary venous return anomaly def: "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." [Orphanet:3090] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:4599"} subset: ordo_group_of_disorders {source="Orphanet:3090"} synonym: "anomalous pulmonary venous return" RELATED [GARD:0004599] synonym: "APVR" RELATED ABBREVIATION [GARD:0004599] @@ -342940,6 +356936,7 @@ synonym: "scimitar syndrome" RELATED [GARD:0004599] synonym: "TAPVR" RELATED ABBREVIATION [GARD:0004599] synonym: "TAPVR1" RELATED ABBREVIATION [GARD:0004599] synonym: "total anomalous pulmonary venous return" RELATED [GARD:0004599] +xref: GARD:4599 {source="Orphanet:3090"} xref: ICD10CM:Q26.2 {source="Orphanet:3090", source="Orphanet:3090/btnt"} xref: ICD10CM:Q26.3 {source="Orphanet:3090", source="Orphanet:3090/btnt"} xref: ICD10CM:Q26.4 {source="Orphanet:3090", source="Orphanet:3090/btnt"} @@ -342954,8 +356951,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017706 name: disorder of carbohydrate transmembrane transport and absorption subset: disease_grouping +subset: gard_rare {source="GARD:21313"} subset: ordo_group_of_disorders {source="Orphanet:309001"} synonym: "disorder of carbohydrate absorption and transport" EXACT [Orphanet:309001] +xref: GARD:21313 {source="Orphanet:309001"} xref: Orphanet:309001 {source="MONDO:equivalentTo"} xref: UMLS:CN227180 {source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="Orphanet:309001", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder @@ -342971,7 +356970,9 @@ replaced_by: MONDO:0002525 id: MONDO:0017708 name: mevalonate kinase deficiency subset: disease_grouping +subset: gard_rare {source="GARD:21315"} subset: ordo_group_of_disorders {source="Orphanet:309025"} +xref: GARD:21315 {source="Orphanet:309025"} xref: MedDRA:10072221 {source="Orphanet:309025", source="Orphanet:309025/e"} xref: MESH:D054078 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:309025 {source="MONDO:equivalentTo"} @@ -342984,6 +356985,8 @@ is_a: MONDO:0019751 ! autoinflammatory syndrome [Term] id: MONDO:0017709 name: obsolete disorder of lipid absorption and transport +subset: gard_rare {source="GARD:21316"} +xref: GARD:21316 {source="MONDO:obsoleteEquivalent", source="Orphanet:309028"} xref: Orphanet:309028 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227181 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -342997,6 +357000,8 @@ is_obsolete: true [Term] id: MONDO:0017710 name: obsolete congenital systemic veins anomaly +subset: gard_rare {source="GARD:18785"} +xref: GARD:18785 {source="MONDO:obsoleteEquivalent", source="Orphanet:3091"} xref: Orphanet:3091 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -343008,7 +357013,9 @@ is_obsolete: true [Term] id: MONDO:0017711 name: pancreatic colipase deficiency +subset: gard_rare {source="GARD:17402"} subset: ordo_disease {source="Orphanet:309108"} +xref: GARD:17402 {source="Orphanet:309108"} xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309108/attributed", source="Orphanet:309108/ntbt", source="Orphanet:309108"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309108 {source="MONDO:equivalentTo"} @@ -343021,7 +357028,9 @@ property_value: confidence "1.9907692307692302" xsd:double id: MONDO:0017712 name: combined pancreatic lipase-colipase deficiency def: "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." [https://orcid.org/0000-0001-5208-3432, Orphanet:309111] +subset: gard_rare {source="GARD:17403"} subset: ordo_disease {source="Orphanet:309111"} +xref: GARD:17403 {source="Orphanet:309111"} xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309111", source="Orphanet:309111/attributed", source="Orphanet:309111/ntbt"} xref: Orphanet:309111 {source="MONDO:equivalentTo"} is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency @@ -343031,7 +357040,9 @@ property_value: confidence "1.9907692307692302" xsd:double id: MONDO:0017713 name: disorder of fatty acid oxidation and ketogenesis subset: disease_grouping +subset: gard_rare {source="GARD:21317"} subset: ordo_group_of_disorders {source="Orphanet:309115"} +xref: GARD:21317 {source="Orphanet:309115"} xref: ICD10CM:E71.3 {source="Orphanet:309115", source="Orphanet:309115/attributed", source="Orphanet:309115/ntbt"} xref: Orphanet:309115 {source="MONDO:equivalentTo"} xref: UMLS:CN227183 {source="MONDO:equivalentTo"} @@ -343042,7 +357053,9 @@ relationship: disease_has_basis_in_disruption_of GO:0019395 ! fatty acid oxidati id: MONDO:0017714 name: acyl-CoA dehydrogenase deficiency subset: disease_grouping +subset: gard_rare {source="GARD:21318"} subset: ordo_group_of_disorders {source="Orphanet:309120"} +xref: GARD:21318 {source="Orphanet:309120"} xref: ICD10CM:E71.3 {source="Orphanet:309120/attributed", source="Orphanet:309120/ntbt", source="Orphanet:309120"} xref: Orphanet:309120 {source="MONDO:equivalentTo"} xref: SCTID:82319005 {source="MONDO:equivalentTo"} @@ -343053,7 +357066,9 @@ is_a: MONDO:0017713 {source="Orphanet:309120"} ! disorder of fatty acid oxidatio id: MONDO:0017715 name: 3-hydroxyacyl-CoA dehydrogenase deficiency subset: disease_grouping +subset: gard_rare {source="GARD:21319"} subset: ordo_group_of_disorders {source="Orphanet:309127"} +xref: GARD:21319 {source="Orphanet:309127"} xref: ICD10CM:E71.3 {source="Orphanet:309127/attributed", source="Orphanet:309127/ntbt", source="Orphanet:309127"} xref: MESH:C535310 {source="MONDO:equivalentTo"} xref: OMIM:231530 {source="Orphanet:71212", source="MONDO:equivalentTo", source="GARD:0009870", source="Orphanet:71212/e"} @@ -343065,7 +357080,9 @@ is_a: MONDO:0017713 {source="Orphanet:309127"} ! disorder of fatty acid oxidatio id: MONDO:0017716 name: disorder of carnitine cycle and carnitine transport subset: disease_grouping +subset: gard_rare {source="GARD:21320"} subset: ordo_group_of_disorders {source="Orphanet:309130"} +xref: GARD:21320 {source="Orphanet:309130"} xref: ICD10CM:E71.3 {source="Orphanet:309130/attributed", source="Orphanet:309130/ntbt", source="Orphanet:309130"} xref: Orphanet:309130 {source="MONDO:equivalentTo"} xref: UMLS:CN227184 {source="MONDO:equivalentTo"} @@ -343075,7 +357092,9 @@ is_a: MONDO:0019223 {source="Orphanet:309130"} ! disorder of fatty acid and keto id: MONDO:0017717 name: obsolete metabolic disease due to other fatty acid oxidation disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease +subset: gard_rare {source="GARD:21321"} subset: ordo_group_of_disorders {source="Orphanet:309133"} +xref: GARD:21321 {source="MONDO:obsoleteEquivalent", source="Orphanet:309133"} xref: ICD10CM:E71.3 {source="Orphanet:309133", source="Orphanet:309133/attributed", source="Orphanet:309133/ntbt"} xref: Orphanet:309133 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203613 {source="MONDO:obsoleteEquivalent"} @@ -343088,7 +357107,9 @@ consider: MONDO:0005066 id: MONDO:0017718 name: obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:21322"} subset: ordo_group_of_disorders {source="Orphanet:309136"} +xref: GARD:21322 {source="MONDO:obsoleteEquivalent", source="Orphanet:309136"} xref: Orphanet:309136 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227185 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -343101,9 +357122,11 @@ id: MONDO:0017719 name: gangliosidosis def: "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." [MESH:D005733] subset: disease_grouping +subset: gard_rare {source="GARD:12510"} subset: ordo_group_of_disorders {source="Orphanet:309144"} synonym: "mucolipidosis type IV" RELATED EXCLUDE [DOID:2368] xref: DOID:2368 {source="MONDO:equivalentTo"} +xref: GARD:12510 {source="Orphanet:309144"} xref: ICD10CM:E75.0 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} xref: ICD10CM:E75.1 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} xref: ICD10CM:E75.10 {source="DOID:2368"} @@ -343118,12 +357141,13 @@ id: MONDO:0017720 name: GM2 gangliosidosis def: "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." [Orphanet:309152] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:21323"} subset: ordo_group_of_disorders {source="Orphanet:309152"} synonym: "gangliosidosis GM2" EXACT [MONDO:0002608] synonym: "GM2-gangliosidosis, B, B1, AB variant" RELATED [GARD:0002522] synonym: "GM>2< gangliosidosis" EXACT [DOID:3321] xref: DOID:3321 {source="MONDO:equivalentTo"} +xref: GARD:21323 {source="Orphanet:309152"} xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"} xref: ICD10CM:E75.00 {source="DOID:3321"} xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"} @@ -343137,9 +357161,11 @@ is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:309152"} ! inher [Term] id: MONDO:0017721 name: Sandhoff disease, infantile form +subset: gard_rare {source="GARD:7604"} subset: ordo_clinical_subtype {source="Orphanet:309155"} synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155] synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155] +xref: GARD:7604 {source="Orphanet:309155"} xref: ICD10CM:E75.0 {source="Orphanet:309155", source="Orphanet:309155/attributed", source="Orphanet:309155/ntbt"} xref: Orphanet:309155 {source="MONDO:equivalentTo"} xref: UMLS:C0751490 {source="Orphanet:309155", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309155/e"} @@ -343151,9 +357177,11 @@ property_value: confidence "4.277777777777779" xsd:double [Term] id: MONDO:0017722 name: Sandhoff disease, juvenile form +subset: gard_rare {source="GARD:17404"} subset: ordo_clinical_subtype {source="Orphanet:309162"} synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162] synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162] +xref: GARD:17404 {source="Orphanet:309162"} xref: ICD10CM:E75.0 {source="Orphanet:309162", source="Orphanet:309162/attributed", source="Orphanet:309162/ntbt"} xref: Orphanet:309162 {source="MONDO:equivalentTo"} xref: UMLS:C0751491 {source="Orphanet:309162", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309162/e"} @@ -343166,11 +357194,13 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0017723 name: Sandhoff disease, adult form def: "A Sandhoff disease that occurs in an adult." [MONDO:design_pattern] +subset: gard_rare {source="GARD:17405"} subset: ordo_clinical_subtype {source="Orphanet:309169"} synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169] synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern] synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169] synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +xref: GARD:17405 {source="Orphanet:309169"} xref: ICD10CM:E75.0 {source="Orphanet:309169/attributed", source="Orphanet:309169/ntbt", source="Orphanet:309169"} xref: Orphanet:309169 {source="MONDO:equivalentTo"} xref: UMLS:C0751489 {source="Orphanet:309169/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309169"} @@ -343184,9 +357214,11 @@ property_value: confidence "4.277777777777779" xsd:double [Term] id: MONDO:0017724 name: Tay-Sachs disease, b variant, infantile form +subset: gard_rare {source="GARD:21324"} subset: ordo_clinical_subtype {source="Orphanet:309178"} synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178] synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178] +xref: GARD:21324 {source="Orphanet:309178"} xref: ICD10CM:E75.0 {source="Orphanet:309178", source="Orphanet:309178/attributed", source="Orphanet:309178/ntbt"} xref: Orphanet:309178 {source="MONDO:equivalentTo"} xref: UMLS:CN203620 {source="MONDO:equivalentTo"} @@ -343195,9 +357227,11 @@ is_a: MONDO:0010100 {source="Orphanet:309178", source="https://orcid.org/0000-00 [Term] id: MONDO:0017725 name: Tay-Sachs disease, b variant, juvenile form +subset: gard_rare {source="GARD:21325"} subset: ordo_clinical_subtype {source="Orphanet:309185"} synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185] synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185] +xref: GARD:21325 {source="Orphanet:309185"} xref: ICD10CM:E75.0 {source="Orphanet:309185/attributed", source="Orphanet:309185/ntbt", source="Orphanet:309185"} xref: Orphanet:309185 {source="MONDO:equivalentTo"} xref: UMLS:CN203621 {source="MONDO:equivalentTo"} @@ -343206,9 +357240,11 @@ is_a: MONDO:0010100 {source="Orphanet:309185", source="https://orcid.org/0000-00 [Term] id: MONDO:0017726 name: Tay-Sachs disease, B variant, adult form +subset: gard_rare {source="GARD:21326"} subset: ordo_clinical_subtype {source="Orphanet:309192"} synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192] synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192] +xref: GARD:21326 {source="Orphanet:309192"} xref: ICD10CM:E75.0 {source="Orphanet:309192", source="Orphanet:309192/attributed", source="Orphanet:309192/ntbt"} xref: Orphanet:309192 {source="MONDO:equivalentTo"} xref: UMLS:C1848914 {source="Orphanet:309192", source="MONDO:equivalentTo"} @@ -343219,7 +357255,9 @@ property_value: confidence "0.2958226768968455" xsd:double id: MONDO:0017727 name: fixed subaortic stenosis def: "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." [Orphanet:3092] +subset: gard_rare {source="GARD:16619"} subset: ordo_morphological_anomaly {source="Orphanet:3092"} +xref: GARD:16619 {source="Orphanet:3092"} xref: ICD10CM:Q24.4 {source="Orphanet:3092", source="Orphanet:3092/e"} xref: Orphanet:3092 {source="MONDO:equivalentTo"} xref: UMLS:C1848979 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3092"} @@ -343232,9 +357270,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017728 name: Tay-Sachs disease, B1 variant +subset: gard_rare {source="GARD:21327"} subset: ordo_clinical_subtype {source="Orphanet:309239"} synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239] synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239] +xref: GARD:21327 {source="Orphanet:309239"} xref: ICD10CM:E75.0 {source="Orphanet:309239/attributed", source="Orphanet:309239/ntbt", source="Orphanet:309239"} xref: Orphanet:309239 {source="MONDO:equivalentTo"} xref: SCTID:238024005 {source="MONDO:equivalentTo"} @@ -343246,9 +357286,11 @@ property_value: confidence "0.2958226768968455" xsd:double [Term] id: MONDO:0017729 name: metachromatic leukodystrophy, late infantile form +subset: gard_rare {source="GARD:21328"} subset: ordo_clinical_subtype {source="Orphanet:309256"} synonym: "arylsulfatase A deficiency, late infantile form" EXACT [Orphanet:309256] synonym: "MLD, late infantile form" EXACT [Orphanet:309256] +xref: GARD:21328 {source="Orphanet:309256"} xref: ICD10CM:E75.2 {source="Orphanet:309256", source="Orphanet:309256/attributed", source="Orphanet:309256/ntbt"} xref: Orphanet:309256 {source="MONDO:equivalentTo"} xref: UMLS:C0751278 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309256"} @@ -343258,9 +357300,11 @@ property_value: confidence "0.0" xsd:double [Term] id: MONDO:0017730 name: metachromatic leukodystrophy, adult form +subset: gard_rare {source="GARD:21330"} subset: ordo_clinical_subtype {source="Orphanet:309271"} synonym: "arylsulfatase A deficiency, adult form" EXACT [Orphanet:309271] synonym: "MLD, adult form" EXACT [Orphanet:309271] +xref: GARD:21330 {source="Orphanet:309271"} xref: ICD10CM:E75.2 {source="Orphanet:309271/attributed", source="Orphanet:309271/ntbt", source="Orphanet:309271"} xref: Orphanet:309271 {source="MONDO:equivalentTo"} xref: UMLS:C0751279 {source="Orphanet:309271", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309271/e"} @@ -343272,8 +357316,9 @@ id: MONDO:0017731 name: glycoproteinosis comment: See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 {source="MONDO:cjm"} subset: disease_grouping -subset: gard_rare {source="GARD:0010670"} +subset: gard_rare {source="GARD:10670"} subset: ordo_group_of_disorders {source="Orphanet:309279"} +xref: GARD:10670 {source="Orphanet:309279"} xref: ICD10CM:E77.0 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} xref: ICD10CM:E77.1 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} xref: ICD10CM:E77.8 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} @@ -343285,8 +357330,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10670/glycop [Term] id: MONDO:0017732 name: alpha-mannosidosis, infantile form +subset: gard_rare {source="GARD:17407"} subset: ordo_clinical_subtype {source="Orphanet:309282"} synonym: "lysosomal alpha-D-mannosidase deficiency, infantile form" EXACT [Orphanet:309282] +xref: GARD:17407 {source="Orphanet:309282"} xref: ICD10CM:E77.1 {source="Orphanet:309282/attributed", source="Orphanet:309282/ntbt", source="Orphanet:309282"} xref: Orphanet:309282 {source="MONDO:equivalentTo"} is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis @@ -343294,9 +357341,11 @@ is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis [Term] id: MONDO:0017733 name: alpha-mannosidosis, adult form +subset: gard_rare {source="GARD:17408"} subset: ordo_clinical_subtype {source="Orphanet:309288"} synonym: "Alpha-mannosidosis adult-onset form" RELATED [GTR:AN0103811] synonym: "lysosomal alpha-D-mannosidase deficiency, adult form" EXACT [Orphanet:309288] +xref: GARD:17408 {source="Orphanet:309288"} xref: GTR:AN0103810 xref: GTR:AN0103811 xref: ICD10CM:E77.1 {source="Orphanet:309288", source="Orphanet:309288/attributed", source="Orphanet:309288/ntbt"} @@ -343309,7 +357358,9 @@ id: MONDO:0017734 name: sialidosis def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." [Orphanet:309294] subset: disease_grouping +subset: gard_rare {source="GARD:21331"} subset: ordo_group_of_disorders {source="Orphanet:309294"} +xref: GARD:21331 {source="Orphanet:309294"} xref: ICD10CM:E77.1 {source="Orphanet:309294/inclusion", source="Orphanet:309294", source="Orphanet:309294/ntbt"} xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} @@ -343320,7 +357371,9 @@ is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis [Term] id: MONDO:0017735 name: congenital aortic valve stenosis +subset: gard_rare {source="GARD:18786"} subset: ordo_morphological_anomaly {source="Orphanet:3093"} +xref: GARD:18786 {source="Orphanet:3093"} xref: ICD10CM:Q23.0 {source="Orphanet:3093", source="Orphanet:3093/e"} xref: ICD9:746.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010371 {source="Orphanet:3093", source="Orphanet:3093/e"} @@ -343335,7 +357388,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017736 name: disorder of sialic acid metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21332"} subset: ordo_group_of_disorders {source="Orphanet:309319"} +xref: GARD:21332 {source="Orphanet:309319"} xref: ICD10CM:E77.8 {source="Orphanet:309319", source="Orphanet:309319/attributed", source="Orphanet:309319/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309319 {source="MONDO:equivalentTo"} @@ -343346,9 +357401,10 @@ is_a: MONDO:0002561 {source="Orphanet:309319"} ! lysosomal storage disease [Term] id: MONDO:0017737 name: intermediate severe Salla disease -subset: gard_rare {source="GARD:0010871"} +subset: gard_rare {source="GARD:10871"} subset: ordo_clinical_subtype {source="Orphanet:309331"} synonym: "Intermediate Salla disease" RELATED [GARD:0010871] +xref: GARD:10871 {source="Orphanet:309331"} xref: ICD10CM:E77.8 {source="Orphanet:309331", source="Orphanet:309331/attributed", source="Orphanet:309331/ntbt"} xref: Orphanet:309331 {source="MONDO:equivalentTo"} xref: UMLS:CN203640 {source="MONDO:equivalentTo"} @@ -343361,7 +357417,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10871/interm id: MONDO:0017738 name: lysosomal glycogen storage disease subset: disease_grouping +subset: gard_rare {source="GARD:21333"} subset: ordo_group_of_disorders {source="Orphanet:309337"} +xref: GARD:21333 {source="Orphanet:309337"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337/attributed", source="Orphanet:309337/ntbt", source="Orphanet:309337"} xref: Orphanet:309337 {source="MONDO:equivalentTo"} xref: UMLS:CN203642 {source="MONDO:equivalentTo"} @@ -343371,7 +357429,9 @@ is_a: MONDO:0002561 {source="Orphanet:309337"} ! lysosomal storage disease id: MONDO:0017739 name: disorder of lysosomal-related organelles subset: disease_grouping +subset: gard_rare {source="GARD:21334"} subset: ordo_group_of_disorders {source="Orphanet:309340"} +xref: GARD:21334 {source="Orphanet:309340"} xref: Orphanet:309340 {source="MONDO:equivalentTo"} xref: UMLS:CN227186 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:309340"} ! inborn errors of metabolism @@ -343381,9 +357441,11 @@ id: MONDO:0017740 name: disorder of protein N-glycosylation def: "A disease that has its basis in the disruption of protein N-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: disease_grouping +subset: gard_rare {source="GARD:21335"} subset: ordo_group_of_disorders {source="Orphanet:309347"} synonym: "disorder of protein N-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern] +xref: GARD:21335 {source="Orphanet:309347"} xref: ICD10CM:E77.8 {source="Orphanet:309347/attributed", source="Orphanet:309347/ntbt", source="Orphanet:309347"} xref: Orphanet:309347 {source="MONDO:equivalentTo"} xref: UMLS:CN227187 {source="MONDO:equivalentTo"} @@ -343396,9 +357458,11 @@ id: MONDO:0017741 name: disorder of protein O-glycosylation def: "A disease that has its basis in the disruption of protein O-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: disease_grouping +subset: gard_rare {source="GARD:21336"} subset: ordo_group_of_disorders {source="Orphanet:309447"} synonym: "disorder of protein O-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern] +xref: GARD:21336 {source="Orphanet:309447"} xref: ICD10CM:E77.8 {source="Orphanet:309447/attributed", source="Orphanet:309447/ntbt", source="Orphanet:309447"} xref: Orphanet:309447 {source="MONDO:equivalentTo"} xref: UMLS:CN227188 {source="MONDO:equivalentTo"} @@ -343409,6 +357473,8 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linke [Term] id: MONDO:0017742 name: obsolete disorder of O-xylosylglycan synthesis +subset: gard_rare {source="GARD:21337"} +xref: GARD:21337 {source="MONDO:obsoleteEquivalent", source="Orphanet:309450"} xref: ICD10CM:E77.8 {source="Orphanet:309450/attributed", source="Orphanet:309450/ntbt", source="Orphanet:309450"} xref: Orphanet:309450 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227189 {source="MONDO:obsoleteEquivalent"} @@ -343421,6 +357487,8 @@ is_obsolete: true [Term] id: MONDO:0017743 name: obsolete disorder of O-N-acetylgalactosaminylglycan synthesis +subset: gard_rare {source="GARD:21338"} +xref: GARD:21338 {source="MONDO:obsoleteEquivalent", source="Orphanet:309458"} xref: ICD10CM:E77.8 {source="Orphanet:309458/attributed", source="Orphanet:309458/ntbt", source="Orphanet:309458"} xref: Orphanet:309458 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227190 {source="MONDO:obsoleteEquivalent"} @@ -343433,6 +357501,8 @@ is_obsolete: true [Term] id: MONDO:0017744 name: obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis +subset: gard_rare {source="GARD:21339"} +xref: GARD:21339 {source="MONDO:obsoleteEquivalent", source="Orphanet:309463"} xref: ICD10CM:E77.8 {source="Orphanet:309463", source="Orphanet:309463/attributed", source="Orphanet:309463/ntbt"} xref: Orphanet:309463 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227191 {source="MONDO:obsoleteEquivalent"} @@ -343445,6 +357515,8 @@ is_obsolete: true [Term] id: MONDO:0017745 name: obsolete disorder of O-mannosylglycan synthesis +subset: gard_rare {source="GARD:21340"} +xref: GARD:21340 {source="MONDO:obsoleteEquivalent", source="Orphanet:309469"} xref: ICD10CM:E77.8 {source="Orphanet:309469/attributed", source="Orphanet:309469/ntbt", source="Orphanet:309469"} xref: Orphanet:309469 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227192 {source="MONDO:obsoleteEquivalent"} @@ -343458,10 +357530,12 @@ is_obsolete: true id: MONDO:0017746 name: atypical Rett syndrome def: "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)." [Orphanet:3095] +subset: gard_rare {source="GARD:4694"} subset: ordo_disease {source="Orphanet:3095"} synonym: "atypical RTT" EXACT [Orphanet:3095] synonym: "Rett like syndrome" RELATED [GARD:0004694] synonym: "Rett syndrome variant" EXACT [Orphanet:3095] +xref: GARD:4694 {source="Orphanet:3095"} xref: ICD10CM:F84.2 {source="Orphanet:3095", source="Orphanet:3095/attributed", source="Orphanet:3095/ntbt"} xref: Orphanet:3095 {source="MONDO:equivalentTo"} xref: SCTID:718393002 {source="MONDO:equivalentTo"} @@ -343480,7 +357554,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017747 name: disorder of fucoglycosan synthesis subset: disease_grouping +subset: gard_rare {source="GARD:21341"} subset: ordo_group_of_disorders {source="Orphanet:309505"} +xref: GARD:21341 {source="Orphanet:309505"} xref: ICD10CM:E77.8 {source="Orphanet:309505", source="Orphanet:309505/attributed", source="Orphanet:309505/ntbt"} xref: Orphanet:309505 {source="MONDO:equivalentTo"} xref: UMLS:CN227193 {source="MONDO:equivalentTo"} @@ -343490,9 +357566,11 @@ is_a: MONDO:0017741 {source="Orphanet:309505"} ! disorder of protein O-glycosyla id: MONDO:0017748 name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation subset: disease_grouping +subset: gard_rare {source="GARD:21342"} subset: ordo_group_of_disorders {source="Orphanet:309515"} synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515] synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515] +xref: GARD:21342 {source="Orphanet:309515"} xref: ICD10CM:E77.8 {source="Orphanet:309515/attributed", source="Orphanet:309515/ntbt", source="Orphanet:309515"} xref: Orphanet:309515 {source="MONDO:equivalentTo"} xref: UMLS:CN227194 {source="MONDO:equivalentTo"} @@ -343503,7 +357581,9 @@ is_a: MONDO:0024321 {source="MONDO:cjm"} ! disorder of GPI anchor biosynthesis id: MONDO:0017749 name: disorder of multiple glycosylation subset: disease_grouping +subset: gard_rare {source="GARD:21343"} subset: ordo_group_of_disorders {source="Orphanet:309526"} +xref: GARD:21343 {source="Orphanet:309526"} xref: ICD10CM:E77.8 {source="Orphanet:309526/attributed", source="Orphanet:309526/ntbt", source="Orphanet:309526"} xref: Orphanet:309526 {source="MONDO:equivalentTo"} xref: UMLS:CN227195 {source="MONDO:equivalentTo"} @@ -343513,8 +357593,10 @@ is_a: MONDO:0015286 {source="Orphanet:309526"} ! congenital disorder of glycosyl id: MONDO:0017750 name: defect in conserved oligomeric Golgi complex subset: disease_grouping +subset: gard_rare {source="GARD:21344"} subset: ordo_group_of_disorders {source="Orphanet:309568"} synonym: "defect in COG complex" EXACT [Orphanet:309568] +xref: GARD:21344 {source="Orphanet:309568"} xref: ICD10CM:E77.8 {source="Orphanet:309568/attributed", source="Orphanet:309568/ntbt", source="Orphanet:309568"} xref: Orphanet:309568 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="MONDO:Redundant", source="Orphanet:309568"} ! disorder of multiple glycosylation @@ -343531,7 +357613,9 @@ replaced_by: MONDO:0005942 id: MONDO:0017752 name: defect in V-ATPase subset: disease_grouping +subset: gard_rare {source="GARD:21345"} subset: ordo_group_of_disorders {source="Orphanet:309778"} +xref: GARD:21345 {source="Orphanet:309778"} xref: ICD10CM:E77.8 {source="Orphanet:309778/attributed", source="Orphanet:309778/ntbt", source="Orphanet:309778"} xref: Orphanet:309778 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylation @@ -343539,9 +357623,10 @@ is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylat [Term] id: MONDO:0017753 name: obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -subset: gard_rare {source="GARD:0012476"} +subset: gard_rare {source="GARD:12476"} subset: ordo_group_of_disorders {source="Orphanet:309810"} synonym: "disorder of peroxisomal alpha-, beta- and omega-oxidation" EXACT [GARD:0012476] +xref: GARD:12476 {source="MONDO:obsoleteEquivalent", source="Orphanet:309810"} xref: Orphanet:309810 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227198 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -343557,6 +357642,7 @@ name: inborn disorder of porphyrin metabolism def: "An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. subset: disease_grouping +subset: gard_rare {source="GARD:21346"} subset: ordo_group_of_disorders {source="Orphanet:309813"} synonym: "disorder of porphyrin and haem metabolism" BROAD [Orphanet:309813] synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [Orphanet:309813] @@ -343564,6 +357650,7 @@ synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT [] synonym: "inherited disorder of porphyrin metabolism" EXACT [] synonym: "rare inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21346 {source="Orphanet:309813"} xref: ICD10CM:E80.0 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} xref: ICD10CM:E80.1 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} xref: ICD10CM:E80.2 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} @@ -343585,12 +357672,14 @@ id: MONDO:0017755 name: inborn disorder of bilirubin metabolism def: "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21347"} subset: ordo_group_of_disorders {source="Orphanet:309816"} synonym: "bilirubin metabolism disorder" RELATED [] synonym: "disorder of bilirubin metabolism" BROAD [MONDO:0024289] synonym: "disorder of bilirubin metabolism and excretion" EXACT [] synonym: "hereditary bilirubin metabolism disease" EXACT [MONDO:patterns/hereditary] synonym: "inborn disorder of bilirubin metabolism and excretion" EXACT [] +xref: GARD:21347 {source="Orphanet:309816"} xref: Orphanet:309816 {source="MONDO:equivalentTo"} xref: UMLS:CN227200 {source="MONDO:equivalentTo"} is_a: MONDO:0017754 {source="Orphanet:309816"} ! inborn disorder of porphyrin metabolism @@ -343601,6 +357690,8 @@ relationship: disease_disrupts GO:0015723 ! bilirubin transport [Term] id: MONDO:0017756 name: obsolete disorder of pterin metabolism +subset: gard_rare {source="GARD:21348"} +xref: GARD:21348 {source="MONDO:obsoleteEquivalent", source="Orphanet:309819"} xref: Orphanet:309819 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227201 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -343613,7 +357704,9 @@ is_obsolete: true id: MONDO:0017757 name: disorder of metabolite absorption and transport subset: disease_grouping +subset: gard_rare {source="GARD:21349"} subset: ordo_group_of_disorders {source="Orphanet:309824"} +xref: GARD:21349 {source="Orphanet:309824"} xref: Orphanet:309824 {source="MONDO:equivalentTo"} xref: UMLS:CN227202 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:309824"} ! inborn errors of metabolism @@ -343622,8 +357715,10 @@ is_a: MONDO:0019052 {source="Orphanet:309824"} ! inborn errors of metabolism id: MONDO:0017758 name: disorder of vitamin and non-protein cofactor absorption and transport subset: disease_grouping +subset: gard_rare {source="GARD:21350"} subset: ordo_group_of_disorders {source="Orphanet:309827"} synonym: "disorder of vitamin and non-protein cofactor absorption and transport" EXACT [Orphanet:309827] +xref: GARD:21350 {source="Orphanet:309827"} xref: Orphanet:309827 {source="MONDO:equivalentTo"} xref: UMLS:CN227203 {source="MONDO:equivalentTo"} is_a: MONDO:0017757 {source="Orphanet:309827"} ! disorder of metabolite absorption and transport @@ -343632,7 +357727,9 @@ is_a: MONDO:0017757 {source="Orphanet:309827"} ! disorder of metabolite absorpti id: MONDO:0017759 name: disorder of catecholamine synthesis subset: disease_grouping +subset: gard_rare {source="GARD:21351"} subset: ordo_group_of_disorders {source="Orphanet:309830"} +xref: GARD:21351 {source="Orphanet:309830"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309830 {source="MONDO:equivalentTo"} xref: SCTID:237921002 {source="MONDO:equivalentTo"} @@ -343644,6 +357741,8 @@ intersection_of: disease_has_basis_in_disruption_of GO:0042423 ! catecholamine b [Term] id: MONDO:0017760 name: obsolete disorder of other vitamins and cofactors metabolism and transport +subset: gard_rare {source="GARD:21352"} +xref: GARD:21352 {source="MONDO:obsoleteEquivalent", source="Orphanet:309833"} xref: Orphanet:309833 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227204 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -343656,7 +357755,9 @@ is_obsolete: true id: MONDO:0017761 name: disorder of mineral absorption and transport subset: disease_grouping +subset: gard_rare {source="GARD:21353"} subset: ordo_group_of_disorders {source="Orphanet:309836"} +xref: GARD:21353 {source="Orphanet:309836"} xref: ICD10CM:E83.0 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} xref: ICD10CM:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} xref: ICD10CM:E83.2 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} @@ -343674,11 +357775,13 @@ id: MONDO:0017762 name: disorder of copper metabolism def: "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21354"} subset: ordo_group_of_disorders {source="Orphanet:309839"} synonym: "copper Transport disorders" RELATED [GTR:AN0119091] synonym: "inborn cellular copper ion homeostasis disorder" EXACT [] synonym: "inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21354 {source="Orphanet:309839"} xref: ICD10CM:E83.0 {source="Orphanet:309839", source="Orphanet:309839/specific", source="Orphanet:309839/e"} xref: ICD9:275.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10061091 {source="Orphanet:309839", source="Orphanet:309839/e"} @@ -343694,7 +357797,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006878 ! intracellular c id: MONDO:0017763 name: disorder of iron metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:21355"} subset: ordo_group_of_disorders {source="Orphanet:309842"} +xref: GARD:21355 {source="Orphanet:309842"} xref: ICD10CM:E83.1 {source="Orphanet:309842/specific", source="MONDO:relatedTo", source="Orphanet:309842/e", source="Orphanet:309842"} xref: Orphanet:309842 {source="MONDO:equivalentTo"} xref: UMLS:CN227206 {source="MONDO:equivalentTo"} @@ -343705,8 +357810,10 @@ relationship: disease_has_basis_in_disruption_of GO:0006826 ! iron ion transport id: MONDO:0017764 name: disorder of zinc metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21356"} subset: ordo_group_of_disorders {source="Orphanet:309845"} synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845] +xref: GARD:21356 {source="Orphanet:309845"} xref: ICD10CM:E83.2 {source="Orphanet:309845/specific", source="Orphanet:309845/e", source="Orphanet:309845"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048260 {source="Orphanet:309845/e", source="Orphanet:309845"} @@ -343720,10 +357827,12 @@ id: MONDO:0017765 name: disorder of magnesium transport def: "An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21357"} subset: ordo_group_of_disorders {source="Orphanet:309848"} synonym: "inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn magnesium ion transport disorder" EXACT [] synonym: "rare inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21357 {source="Orphanet:309848"} xref: ICD10CM:E83.4 {source="Orphanet:309848/attributed", source="Orphanet:309848/ntbt", source="Orphanet:309848"} xref: Orphanet:309848 {source="MONDO:equivalentTo"} xref: UMLS:CN227207 {source="MONDO:equivalentTo"} @@ -343735,7 +357844,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0015693 ! magnesium ion t id: MONDO:0017766 name: disorder of manganese transport subset: disease_grouping +subset: gard_rare {source="GARD:21358"} subset: ordo_group_of_disorders {source="Orphanet:309851"} +xref: GARD:21358 {source="Orphanet:309851"} xref: ICD10CM:E83.8 {source="Orphanet:309851/attributed", source="Orphanet:309851/ntbt", source="Orphanet:309851"} xref: Orphanet:309851 {source="MONDO:equivalentTo"} xref: UMLS:CN227208 {source="MONDO:equivalentTo"} @@ -343745,7 +357856,7 @@ is_a: MONDO:0017761 {source="Orphanet:309851"} ! disorder of mineral absorption id: MONDO:0017767 name: rheumatic fever def: "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." [Orphanet:3099] -subset: gard_rare {source="GARD:0005699"} +subset: gard_rare {source="GARD:5699"} subset: ordo_disease {source="Orphanet:3099"} synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD9CM:390-392.99, Orphanet:3099] synonym: "ARF" EXACT ABBREVIATION [NCIT:C34984] @@ -343753,6 +357864,7 @@ synonym: "inflammatory rheumatism" RELATED [GARD:0005699] synonym: "RHF - rheumatic fever" EXACT [DOID:1586] xref: DOID:1586 {source="MONDO:equivalentTo", source="EFO:1001160"} xref: EFO:1001160 {source="MONDO:equivalentTo"} +xref: GARD:5699 {source="Orphanet:3099"} xref: ICD10CM:I00 {source="DOID:1586", source="Orphanet:3099/btnt", source="Orphanet:3099"} xref: ICD10CM:I00-I02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1586", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:I01.0 {source="Orphanet:3099/btnt", source="Orphanet:3099"} @@ -343792,10 +357904,12 @@ id: MONDO:0017768 name: reflex epilepsy def: "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." [Orphanet:310] subset: disease_grouping +subset: gard_rare {source="GARD:18688"} subset: ordo_group_of_disorders {source="Orphanet:310"} synonym: "epilepsy, sensory-induced" EXACT [DOID:2548] xref: DOID:2548 {source="MONDO:equivalentTo", source="EFO:1001146"} xref: EFO:1001146 {source="MONDO:equivalentTo"} +xref: GARD:18688 {source="Orphanet:310"} xref: ICD10CM:G40.8 {source="Orphanet:310/ntbt", source="Orphanet:310"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020195 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548", source="Orphanet:310"} @@ -343812,7 +357926,9 @@ relationship: excluded_subClassOf MONDO:0020073 {source="Orphanet:310"} ! adoles id: MONDO:0017769 name: acquired immunodeficiency subset: disease_grouping +subset: gard_rare {source="GARD:21359"} subset: ordo_group_of_disorders {source="Orphanet:310050"} +xref: GARD:21359 {source="Orphanet:310050"} xref: Orphanet:310050 {source="MONDO:equivalentTo"} xref: UMLS:C0001175 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:310050"} is_a: MONDO:0005046 {source="Orphanet:310050"} ! immune system disorder @@ -343837,6 +357953,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0017771 name: Mayer-Rokitansky-Kuster-Hauser syndrome def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." [Orphanet:3109] +subset: gard_rare {source="GARD:5445"} subset: ordo_malformation_syndrome {source="Orphanet:3109"} synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [Orphanet:3109] synonym: "MRKH" EXACT ABBREVIATION [NCIT:C124853] @@ -343844,6 +357961,7 @@ synonym: "MRKH syndrome" EXACT [Orphanet:3109] synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853] synonym: "Rokitansky syndrome" EXACT [Orphanet:3109] xref: DOID:0112177 {source="MONDO:equivalentTo"} +xref: GARD:5445 {source="Orphanet:3109"} xref: ICD10CM:Q51.8 {source="Orphanet:3109", source="Orphanet:3109/attributed", source="Orphanet:3109/ntbt"} xref: MedDRA:10065148 {source="Orphanet:3109", source="Orphanet:3109/e"} xref: NCIT:C124853 {source="MONDO:equivalentTo"} @@ -343855,7 +357973,9 @@ is_a: MONDO:0015830 {source="Orphanet:3109"} ! partial bilateral aplasia of the [Term] id: MONDO:0017772 name: oral erosive lichen +subset: gard_rare {source="GARD:18800"} subset: ordo_disease {source="Orphanet:31142"} +xref: GARD:18800 {source="Orphanet:31142"} xref: ICD10CM:L43.8 {source="Orphanet:31142/ntbt", source="Orphanet:31142"} xref: Orphanet:31142 {source="MONDO:equivalentTo"} xref: UMLS:CN203692 {source="MONDO:equivalentTo"} @@ -343866,7 +357986,9 @@ id: MONDO:0017773 name: hypoalphalipoproteinemia def: "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." [NCIT:C84774] subset: disease_grouping +subset: gard_rare {source="GARD:18801"} subset: ordo_group_of_disorders {source="Orphanet:31153"} +xref: GARD:18801 {source="Orphanet:31153"} xref: ICD10CM:E78.6 {source="Orphanet:31153/attributed", source="Orphanet:31153/ntbt", source="Orphanet:31153"} xref: MedDRA:10065156 {source="Orphanet:31153/e", source="Orphanet:31153"} xref: MESH:D052456 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153"} @@ -343882,9 +358004,11 @@ id: MONDO:0017774 name: hypobetalipoproteinemia def: "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." [https://orcid.org/0000-0001-5208-3432, Orphanet:31154] subset: disease_grouping +subset: gard_rare {source="GARD:18802"} subset: ordo_group_of_disorders {source="Orphanet:31154"} synonym: "hypo-beta-lipoproteinemia" EXACT [DOID:1390] xref: DOID:1390 {source="MONDO:equivalentTo"} +xref: GARD:18802 {source="Orphanet:31154"} xref: ICD10CM:E78.6 {source="Orphanet:31154/attributed", source="Orphanet:31154/ntbt", source="Orphanet:31154"} xref: MESH:D006995 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"} xref: Orphanet:31154 {source="MONDO:equivalentTo"} @@ -343898,7 +358022,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015904"} ! rare id: MONDO:0017775 name: melioidosis def: "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." [NCIT:C128336] -subset: gard_rare {source="GARD:0009546"} +subset: gard_rare {source="GARD:9546"} subset: ordo_disease {source="Orphanet:31202"} synonym: "acute and fulminating melioidosis" EXACT [DOID:5052] synonym: "B pseudomallei infection" RELATED [GARD:0009546] @@ -343912,6 +358036,7 @@ synonym: "subacute and chronic melioidosis" EXACT [DOID:5052] synonym: "Whitmore disease" RELATED [GARD:0009546] synonym: "Whitmore's disease" EXACT [DOID:5052] xref: DOID:5052 {source="MONDO:equivalentTo"} +xref: GARD:9546 {source="Orphanet:31202"} xref: ICD10CM:A24.1 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.2 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.3 {source="Orphanet:31202/btnt", source="Orphanet:31202"} @@ -343940,7 +358065,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9546/melioid id: MONDO:0017776 name: nocardiosis def: "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." [Orphanet:31204] -subset: gard_rare {source="GARD:0007210"} +subset: gard_rare {source="GARD:7210"} subset: ordo_disease {source="Orphanet:31204"} synonym: "lung nocardiosis" RELATED [GARD:0007210] synonym: "Nocardia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -343949,6 +358074,7 @@ synonym: "Nocardia infection" RELATED [GARD:0007210] synonym: "Nocardia infectious disease" EXACT [DOID:2312] xref: DOID:2312 {source="MONDO:equivalentTo", source="EFO:0007397"} xref: EFO:0007397 {source="MONDO:equivalentTo"} +xref: GARD:7210 {source="Orphanet:31204"} xref: ICD10CM:A43 {source="DOID:2312", source="MONDO:equivalentTo"} xref: ICD10CM:A43.0 {source="Orphanet:31204/btnt", source="Orphanet:31204"} xref: ICD10CM:A43.1 {source="Orphanet:31204/btnt", source="Orphanet:31204"} @@ -343981,10 +358107,12 @@ replaced_by: MONDO:0006941 id: MONDO:0017778 name: lamellar ichthyosis def: "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." [Orphanet:313] +subset: gard_rare {source="GARD:10803"} subset: ordo_disease {source="Orphanet:313"} synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313] synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313] synonym: "LI" EXACT ABBREVIATION [Orphanet:313] +xref: GARD:10803 {source="Orphanet:313"} xref: ICD10CM:Q80.2 {source="Orphanet:313", source="Orphanet:313/e", source="Orphanet:313/specific"} xref: MedDRA:10023686 {source="Orphanet:313", source="Orphanet:313/e"} xref: MESH:D017490 {source="Orphanet:313", source="Orphanet:313/e"} @@ -344004,12 +358132,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017779 name: alpha-N-acetylgalactosaminidase deficiency def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." [Orphanet:3137] +subset: gard_rare {source="GARD:16621"} subset: ordo_disease {source="Orphanet:3137"} synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "NAGA deficiency" EXACT [Orphanet:3137] synonym: "Schindler disease" EXACT [Orphanet:3137] xref: DOID:0112317 {source="MONDO:equivalentTo"} +xref: GARD:16621 {source="Orphanet:3137"} xref: ICD10CM:E77.1 {source="Orphanet:3137/attributed", source="Orphanet:3137/ntbt", source="Orphanet:3137"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3137 {source="MONDO:equivalentTo"} @@ -344024,10 +358154,12 @@ intersection_of: disease_has_basis_in_disruption_of GO:0008456 ! alpha-N-acetylg id: MONDO:0017780 name: 20p13 microdeletion syndrome def: "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." [Orphanet:313781] +subset: gard_rare {source="GARD:21360"} subset: ordo_malformation_syndrome {source="Orphanet:313781"} synonym: "20p subtelomeric deletion syndrome" EXACT [Orphanet:313781] synonym: "Del(20)(p13)" EXACT [Orphanet:313781] synonym: "monosomy 20p13" EXACT [Orphanet:313781] +xref: GARD:21360 {source="Orphanet:313781"} xref: ICD10CM:Q93.5 {source="Orphanet:313781/attributed", source="Orphanet:313781/ntbt", source="Orphanet:313781"} xref: Orphanet:313781 {source="MONDO:equivalentTo"} xref: UMLS:CN203720 {source="MONDO:equivalentTo"} @@ -344042,9 +358174,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017781 name: 12p12.1 microdeletion syndrome +subset: gard_rare {source="GARD:17414"} subset: ordo_malformation_syndrome {source="Orphanet:313884"} synonym: "Del(12)(p12.1)" EXACT [Orphanet:313884] synonym: "monosomy 12p12.1" EXACT [Orphanet:313884] +xref: GARD:17414 {source="Orphanet:313884"} xref: ICD10CM:Q93.5 {source="Orphanet:313884", source="Orphanet:313884/attributed", source="Orphanet:313884/ntbt"} xref: Orphanet:313884 {source="MONDO:equivalentTo"} xref: UMLS:CN203731 {source="MONDO:equivalentTo"} @@ -344058,7 +358192,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017782 name: developmental and speech delay due to SOX5 deficiency def: "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." [https://orcid.org/0000-0001-5208-3432, Orphanet:313892] +subset: gard_rare {source="GARD:17415"} subset: ordo_disease {source="Orphanet:313892"} +xref: GARD:17415 {source="Orphanet:313892"} xref: Orphanet:313892 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:313892"} ! syndromic intellectual disability @@ -344069,9 +358205,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017783 name: congenital pancreatic cyst +subset: gard_rare {source="GARD:21361"} subset: ordo_morphological_anomaly {source="Orphanet:313906"} synonym: "neonatal congenital pancreatic cyst" EXACT [Orphanet:313906] synonym: "true congenital pancreatic cyst" EXACT [Orphanet:313906] +xref: GARD:21361 {source="Orphanet:313906"} xref: ICD10CM:Q45.2 {source="Orphanet:313906/e", source="MONDO:equivalentTo", source="Orphanet:313906"} xref: Orphanet:313906 {source="MONDO:equivalentTo"} xref: SCTID:204808002 {source="MONDO:equivalentTo"} @@ -344085,9 +358223,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017784 name: Epstein-Barr virus-associated gastric carcinoma def: "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." [Orphanet:313920] +subset: gard_rare {source="GARD:21362"} subset: ordo_disease {source="Orphanet:313920"} synonym: "EBV-associated gastric carcinoma" EXACT [Orphanet:313920] synonym: "EBVaGC" EXACT [Orphanet:313920] +xref: GARD:21362 {source="Orphanet:313920"} xref: ICD10CM:C16.0 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} xref: ICD10CM:C16.2 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} xref: Orphanet:313920 {source="MONDO:equivalentTo"} @@ -344101,8 +358241,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare id: MONDO:0017785 name: PENS syndrome def: "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." [Orphanet:313936] +subset: gard_rare {source="GARD:13447"} subset: ordo_disease {source="Orphanet:313936"} synonym: "papular epidermal nevi with skyline basal cell layers syndrome" EXACT [Orphanet:313936] +xref: GARD:13447 {source="Orphanet:313936"} xref: Orphanet:313936 {source="MONDO:equivalentTo"} xref: UMLS:CN203735 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -344114,9 +358256,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017786 name: 2q23.1 microduplication syndrome def: "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." [Orphanet:313947] +subset: gard_rare {source="GARD:21363"} subset: ordo_malformation_syndrome {source="Orphanet:313947"} synonym: "dup(2)(q23.1)" EXACT [Orphanet:313947] synonym: "trisomy 2q23.1" EXACT [Orphanet:313947] +xref: GARD:21363 {source="Orphanet:313947"} xref: Orphanet:313947 {source="MONDO:equivalentTo"} xref: SCTID:766816008 {source="MONDO:equivalentTo"} xref: UMLS:CN203736 {source="MONDO:equivalentTo"} @@ -344131,7 +358275,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017787 name: erythroderma desquamativum comment: Editors note: check whether xref to HGNC:1331 is appropriate -subset: gard_rare +subset: gard_rare {source="GARD:6878"} subset: ordo_disease {source="Orphanet:314"} synonym: "erythroderma desquamativa of Leiner" RELATED [GARD:0002191] synonym: "erythroderma desquamativum of infancy" RELATED [GARD:0002191, MESH:C535512] @@ -344139,6 +358283,7 @@ synonym: "generalised erythroderma, diarrhea, and failure to thrive" RELATED OMO synonym: "generalized erythroderma, diarrhea, and failure to thrive" RELATED [GARD:0002191, MESH:C535512] synonym: "Leiner disease" EXACT [Orphanet:314] synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512] +xref: GARD:6878 {source="Orphanet:314"} xref: HGNC:1331 {source="GARD:0002191"} xref: ICD10CM:L21.1 {source="Orphanet:314/ntbt", source="Orphanet:314", source="Orphanet:314/index"} xref: MESH:C535512 {source="MONDO:equivalentTo"} @@ -344151,8 +358296,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2191/erythro [Term] id: MONDO:0017788 name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome +subset: gard_rare {source="GARD:21364"} subset: ordo_malformation_syndrome {source="Orphanet:314002"} synonym: "Dinno syndrome" EXACT [Orphanet:314002] +xref: GARD:21364 {source="Orphanet:314002"} xref: Orphanet:314002 {source="MONDO:equivalentTo"} xref: UMLS:CN203738 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:314002"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -344163,7 +358310,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0017789 name: idiopathic linear interstitial keratitis def: "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." [Orphanet:314017] +subset: gard_rare {source="GARD:21365"} subset: ordo_disease {source="Orphanet:314017"} +xref: GARD:21365 {source="Orphanet:314017"} xref: ICD10CM:H16.3 {source="Orphanet:314017/ntbt", source="Orphanet:314017"} xref: Orphanet:314017 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -344173,6 +358322,7 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0017790 name: gastric adenocarcinoma and proximal polyposis of the stomach def: "A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:314022] +subset: gard_rare {source="GARD:17416"} subset: n_of_one subset: ordo_disease {source="Orphanet:314022"} synonym: "familial fundic gland polyposis with gastric cancer" EXACT [Orphanet:314022] @@ -344180,6 +358330,7 @@ synonym: "fundic gland polyposis" EXACT [OMIM:619182] synonym: "GAPPS" EXACT ABBREVIATION [OMIM:619182, Orphanet:314022] synonym: "polyposis, gastric" EXACT [OMIM:175020, OMIM:619182] synonym: "polyposis, gastric, Dos Santos and de Magalhaes 1980" EXACT [MONDO:0024293] +xref: GARD:17416 {source="Orphanet:314022"} xref: NCIT:C172989 {source="MONDO:equivalentTo"} xref: OMIM:619182 {source="MONDO:equivalentTo"} xref: Orphanet:157798 {source="MONDO:relatedTo", source="OMIM:175020"} @@ -344194,8 +358345,10 @@ relationship: disease_has_feature MONDO:0008277 ! stomach polyp [Term] id: MONDO:0017791 name: high bone mass osteogenesis imperfecta +subset: gard_rare {source="GARD:21366"} subset: ordo_disease {source="Orphanet:314029"} synonym: "high bone mass OI" EXACT [Orphanet:314029] +xref: GARD:21366 {source="Orphanet:314029"} xref: ICD10CM:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="Orphanet:314029/attributed", source="Orphanet:314029/ntbt"} xref: Orphanet:314029 {source="MONDO:equivalentTo"} xref: UMLS:CN203741 {source="MONDO:equivalentTo"} @@ -344207,9 +358360,11 @@ relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:314029"} ! obs id: MONDO:0017792 name: 7p22.1 microduplication syndrome def: "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." [Orphanet:314034] +subset: gard_rare {source="GARD:21367"} subset: ordo_malformation_syndrome {source="Orphanet:314034"} synonym: "dup(7)(p22.1)" EXACT [Orphanet:314034] synonym: "trisomy 7p22.1" EXACT [Orphanet:314034] +xref: GARD:21367 {source="Orphanet:314034"} xref: Orphanet:314034 {source="MONDO:equivalentTo"} xref: SCTID:764703002 {source="MONDO:equivalentTo"} xref: UMLS:CN203742 {source="MONDO:equivalentTo"} @@ -344224,7 +358379,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017793 name: marfanoid habitus-inguinal hernia-advanced bone age syndrome +subset: gard_rare {source="GARD:21368"} subset: ordo_malformation_syndrome {source="Orphanet:314041"} +xref: GARD:21368 {source="Orphanet:314041"} xref: Orphanet:314041 {source="MONDO:equivalentTo"} xref: UMLS:CN203743 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis @@ -344233,8 +358390,10 @@ is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect du id: MONDO:0017794 name: Xq12-q13.3 duplication syndrome def: "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." [Orphanet:314389] +subset: gard_rare {source="GARD:21369"} subset: ordo_malformation_syndrome {source="Orphanet:314389"} synonym: "dup(X)(q12-q13.3)" EXACT [Orphanet:314389] +xref: GARD:21369 {source="Orphanet:314389"} xref: ICD10CM:Q99.8 {source="Orphanet:314389", source="Orphanet:314389/attributed", source="Orphanet:314389/ntbt"} xref: Orphanet:314389 {source="MONDO:equivalentTo"} xref: SCTID:764711007 {source="MONDO:equivalentTo"} @@ -344250,7 +358409,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017795 name: ameloblastoma def: "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." [NCIT:C4313] -subset: gard_rare +subset: gard_rare {source="GARD:5747"} subset: ordo_disease {source="Orphanet:314419"} synonym: "adamantinoma" RELATED DEPRECATED [Wikipedia:Adamantinoma] synonym: "Adenoameloblastoma" RELATED [GARD:0005747] @@ -344260,6 +358419,7 @@ synonym: "ameloblastoma" EXACT [NCIT:C4313] synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419] synonym: "aot" RELATED [GARD:0005747] xref: DOID:0050894 {source="MONDO:equivalentTo"} +xref: GARD:5747 {source="Orphanet:314419"} xref: ICD10CM:C41.1 {source="Orphanet:314419", source="Orphanet:314419/ntbt"} xref: ICDO:9310/0 {source="NCIT:C4313"} xref: MedDRA:10066796 {source="Orphanet:314419", source="Orphanet:314419/e"} @@ -344285,9 +358445,11 @@ id: MONDO:0017797 name: obsolete rare odontologic tumor def: "OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21370"} subset: ordo_group_of_disorders {source="Orphanet:314425"} synonym: "rare odontogenic neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare odontogenic tumor" RELATED [Orphanet:314425] +xref: GARD:21370 {source="Orphanet:314425", source="MONDO:obsoleteEquivalent"} xref: Orphanet:314425 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203756 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -344297,7 +358459,9 @@ replaced_by: MONDO:0021192 [Term] id: MONDO:0017798 name: Spigelian hernia-cryptorchidism syndrome +subset: gard_rare {source="GARD:21371"} subset: ordo_malformation_syndrome {source="Orphanet:314432"} +xref: GARD:21371 {source="Orphanet:314432"} xref: ICD10CM:K43.6 {source="Orphanet:314432/ntbt", source="Orphanet:314432"} xref: Orphanet:314432 {source="MONDO:equivalentTo"} xref: UMLS:CN203757 {source="MONDO:equivalentTo"} @@ -344307,9 +358471,11 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0017799 name: Meigs syndrome def: "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." [NCIT:C3223] +subset: gard_rare {source="GARD:21372"} subset: ordo_clinical_syndrome {source="Orphanet:314451"} synonym: "Demons-Meigs syndrome" EXACT [Orphanet:314451] synonym: "Meigs' syndrome" EXACT [NCIT:C3223] +xref: GARD:21372 {source="Orphanet:314451"} xref: ICD10CM:D27 {source="Orphanet:314451/ntbt", source="Orphanet:314451"} xref: ICD9:629.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027139 {source="Orphanet:314451/e", source="Orphanet:314451"} @@ -344326,8 +358492,10 @@ relationship: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0017800 name: pseudo-Meigs syndrome +subset: gard_rare {source="GARD:21373"} subset: ordo_clinical_syndrome {source="Orphanet:314459"} synonym: "pseudo-Demons-Meigs syndrome" EXACT [Orphanet:314459] +xref: GARD:21373 {source="Orphanet:314459"} xref: ICD10CM:D27 {source="Orphanet:314459/ntbt", source="Orphanet:314459"} xref: Orphanet:314459 {source="MONDO:equivalentTo"} xref: UMLS:CN203759 {source="MONDO:equivalentTo"} @@ -344337,9 +358505,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare [Term] id: MONDO:0017801 name: atypical Meigs syndrome +subset: gard_rare {source="GARD:21374"} subset: ordo_clinical_syndrome {source="Orphanet:314466"} synonym: "atypical Demons-Meigs syndrome" EXACT [Orphanet:314466] synonym: "incomplete Meigs syndrome" EXACT [Orphanet:314466] +xref: GARD:21374 {source="Orphanet:314466"} xref: ICD10CM:D27 {source="Orphanet:314466", source="Orphanet:314466/ntbt"} xref: Orphanet:314466 {source="MONDO:equivalentTo"} xref: UMLS:CN203760 {source="MONDO:equivalentTo"} @@ -344350,7 +358520,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare id: MONDO:0017802 name: ovarian fibrothecoma def: "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." [Orphanet:314478] +subset: gard_rare {source="GARD:21376"} subset: ordo_disease {source="Orphanet:314478"} +xref: GARD:21376 {source="Orphanet:314478"} xref: ICD10CM:D27 {source="Orphanet:314478", source="Orphanet:314478/ntbt"} xref: Orphanet:314478 {source="MONDO:equivalentTo"} xref: SCTID:765190005 {source="MONDO:equivalentTo"} @@ -344363,8 +358535,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare [Term] id: MONDO:0017803 name: primary progressive apraxia of speech +subset: gard_rare {source="GARD:21377"} subset: ordo_disease {source="Orphanet:314566"} synonym: "PPAOS" EXACT ABBREVIATION [Orphanet:314566] +xref: GARD:21377 {source="Orphanet:314566"} xref: Orphanet:314566 {source="MONDO:equivalentTo"} xref: UMLS:CN203766 {source="MONDO:equivalentTo"} is_a: MONDO:0005559 {source="Orphanet:314566"} ! neurodegenerative disease @@ -344374,7 +358548,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare id: MONDO:0017804 name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome def: "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." [Orphanet:314572] +subset: gard_rare {source="GARD:21378"} subset: ordo_disease {source="Orphanet:314572"} +xref: GARD:21378 {source="Orphanet:314572"} xref: Orphanet:314572 {source="MONDO:equivalentTo"} xref: UMLS:CN203767 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -344387,7 +358563,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017805 name: intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome +subset: gard_rare {source="GARD:21379"} subset: ordo_malformation_syndrome {source="Orphanet:314575"} +xref: GARD:21379 {source="Orphanet:314575"} xref: Orphanet:314575 {source="MONDO:equivalentTo"} xref: UMLS:CN203768 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:314575"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -344400,9 +358578,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017806 name: 15q overgrowth syndrome def: "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." [Orphanet:314585] +subset: gard_rare {source="GARD:17423"} subset: ordo_malformation_syndrome {source="Orphanet:314585"} synonym: "15q26 overgrowth syndrome" EXACT [DECIPHER:81] xref: DECIPHER:81 {source="MONDO:equivalentTo"} +xref: GARD:17423 {source="Orphanet:314585"} xref: ICD10CM:Q87.3 {source="Orphanet:314585/attributed", source="Orphanet:314585/ntbt", source="Orphanet:314585"} xref: Orphanet:314585 {source="MONDO:equivalentTo"} xref: UMLS:CN203769 {source="MONDO:equivalentTo"} @@ -344417,8 +358597,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source=" id: MONDO:0017807 name: growing teratoma syndrome def: "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." [NCIT:C118370] +subset: gard_rare {source="GARD:21380"} subset: ordo_clinical_situation {source="Orphanet:314613"} synonym: "GTS" EXACT ABBREVIATION [NCIT:C118370] +xref: GARD:21380 {source="Orphanet:314613"} xref: NCIT:C118370 {source="MONDO:equivalentTo"} xref: Orphanet:314613 {source="MONDO:equivalentTo"} xref: UMLS:C3891714 {source="MONDO:equivalentTo", source="NCIT:C118370"} @@ -344430,10 +358612,12 @@ relationship: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0017808 name: duplication of the pituitary gland +subset: gard_rare {source="GARD:21381"} subset: ordo_morphological_anomaly {source="Orphanet:314621"} synonym: "DPG-plus syndrome" EXACT [Orphanet:314621] synonym: "Duplication of the pituitary gland-plus syndrome" EXACT [Orphanet:314621] synonym: "hypophyseal duplication" EXACT [Orphanet:314621] +xref: GARD:21381 {source="Orphanet:314621"} xref: ICD10CM:Q89.2 {source="Orphanet:314621", source="Orphanet:314621/attributed", source="Orphanet:314621/ntbt"} xref: Orphanet:314621 {source="MONDO:equivalentTo"} xref: UMLS:CN203774 {source="MONDO:equivalentTo"} @@ -344446,8 +358630,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017809 name: parkinsonism due to ATP13A2 deficiency +subset: gard_rare {source="GARD:17427"} subset: ordo_disease {source="Orphanet:314632"} synonym: "CLN12 disease" EXACT [Orphanet:314632] +xref: GARD:17427 {source="Orphanet:314632"} xref: ICD10CM:E75.4 {source="Orphanet:314632", source="Orphanet:314632/attributed", source="Orphanet:314632/ntbt"} xref: Orphanet:314632 {source="MONDO:equivalentTo"} xref: UMLS:CN203776 {source="MONDO:equivalentTo"} @@ -344459,9 +358645,11 @@ property_value: confidence "5.692307692307691" xsd:double id: MONDO:0017810 name: variant ABeta2M amyloidosis def: "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." [Orphanet:314652] +subset: gard_rare {source="GARD:21382"} subset: ordo_disease {source="Orphanet:314652"} synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652] xref: DOID:0080929 {source="MONDO:equivalentTo"} +xref: GARD:21382 {source="Orphanet:314652"} xref: ICD10CM:E85.1 {source="Orphanet:314652/attributed", source="Orphanet:314652/ntbt", source="Orphanet:314652"} xref: Orphanet:314652 {source="MONDO:equivalentTo"} xref: SCTID:722292000 {source="MONDO:equivalentTo"} @@ -344473,10 +358661,12 @@ is_a: MONDO:0018634 {source="Orphanet:314652"} ! hereditary amyloidosis [Term] id: MONDO:0017811 name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion +subset: gard_rare {source="GARD:21383"} subset: ordo_clinical_subtype {source="Orphanet:314655"} synonym: "5q31.3 microdeletion syndrome" EXACT [Orphanet:314655] synonym: "Del(5)(q31.3)" EXACT [Orphanet:314655] synonym: "monosomy 5q31.3" EXACT [Orphanet:314655] +xref: GARD:21383 {source="Orphanet:314655"} xref: ICD10CM:Q93.5 {source="Orphanet:314655/attributed", source="Orphanet:314655/ntbt", source="Orphanet:314655"} xref: Orphanet:314655 {source="MONDO:equivalentTo"} xref: SCTID:768555009 {source="MONDO:equivalentTo"} @@ -344491,7 +358681,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017812 name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia def: "A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated." [Orphanet:314662] +subset: gard_rare {source="GARD:21384"} subset: ordo_disease {source="Orphanet:314662"} +xref: GARD:21384 {source="Orphanet:314662"} xref: Orphanet:314662 {source="MONDO:equivalentTo"} xref: UMLS:CN203781 {source="MONDO:equivalentTo"} is_a: MONDO:0019716 {source="Orphanet:314662"} ! overgrowth syndrome @@ -344501,12 +358693,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017813 name: van Maldergem syndrome def: "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." [Orphanet:314679] +subset: gard_rare {source="GARD:5456"} subset: ordo_malformation_syndrome {source="Orphanet:314679"} synonym: "cerebro-facio-articular syndrome" EXACT [DOID:0060238] synonym: "cerebro-facio-articular syndrome of Van Maldergem" RELATED [GARD:0005456] synonym: "Van Maldergem syndrome" EXACT [Orphanet:314679] synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456] xref: DOID:0060238 {source="MONDO:equivalentTo"} +xref: GARD:5456 {source="Orphanet:314679"} xref: MESH:C536530 {source="DOID:0060238"} xref: OMIMPS:601390 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="MONDO:equivalentTo", source="DOID:0060238"} @@ -344522,6 +358716,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017814 name: primary bone lymphoma def: "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." [NCIT:C6620] +subset: gard_rare {source="GARD:21385"} subset: ordo_disease {source="Orphanet:314684"} synonym: "bone lymphoma" RELATED [DOID:6759] synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -344531,6 +358726,7 @@ synonym: "lymphoma of the bone" EXACT [DOID:6759] synonym: "primary lymphoma of bone" EXACT [NCIT:C6620] synonym: "primary lymphoma of the bone" EXACT [NCIT:C6620] xref: DOID:6759 {source="MONDO:equivalentTo"} +xref: GARD:21385 {source="Orphanet:314684"} xref: ICD10CM:C85\,7 {source="Orphanet:314684"} xref: NCIT:C6620 {source="MONDO:equivalentTo", source="DOID:6759"} xref: Orphanet:314684 {source="MONDO:equivalentTo"} @@ -344546,8 +358742,10 @@ relationship: excluded_subClassOf MONDO:0002129 {source="DOID:6759"} ! bone canc id: MONDO:0017815 name: acquired porencephaly def: "An instance of porencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:21386"} subset: ordo_etiological_subtype {source="Orphanet:314697"} synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired] +xref: GARD:21386 {source="Orphanet:314697"} xref: ICD10CM:G93.0 {source="Orphanet:314697", source="Orphanet:314697/ntbt", source="Orphanet:314697/inclusion"} xref: Orphanet:314697 {source="MONDO:equivalentTo"} xref: SCTID:38837006 {source="MONDO:equivalentTo"} @@ -344560,10 +358758,12 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0017816 name: primary systemic amyloidosis def: "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." [Orphanet:314701] +subset: gard_rare {source="GARD:17431"} subset: ordo_clinical_subtype {source="Orphanet:314701"} synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701] synonym: "systemic amyloidosis" EXACT [NCIT:C8299] synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299] +xref: GARD:17431 {source="Orphanet:314701"} xref: ICD10CM:E85.0 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} xref: ICD10CM:E85.1 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} xref: ICD10CM:E85.2 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} @@ -344580,9 +358780,11 @@ property_value: confidence "0.5185185185185188" xsd:double id: MONDO:0017817 name: primary localized amyloidosis def: "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709] +subset: gard_rare {source="GARD:21387"} subset: ordo_clinical_subtype {source="Orphanet:314709"} synonym: "localised AL amyloidosis" EXACT OMO:0003005 [] synonym: "localized AL amyloidosis" EXACT [Orphanet:314709] +xref: GARD:21387 {source="Orphanet:314709"} xref: ICD10CM:E85.4 {source="Orphanet:314709/specific", source="Orphanet:314709/e", source="Orphanet:314709"} xref: Orphanet:314709 {source="MONDO:equivalentTo"} is_a: MONDO:0019438 {source="Orphanet:314709"} ! AL amyloidosis @@ -344590,7 +358792,9 @@ is_a: MONDO:0019438 {source="Orphanet:314709"} ! AL amyloidosis [Term] id: MONDO:0017818 name: lethal arteriopathy syndrome due to fibulin-4 deficiency +subset: gard_rare {source="GARD:17432"} subset: ordo_disease {source="Orphanet:314718"} +xref: GARD:17432 {source="Orphanet:314718"} xref: Orphanet:314718 {source="MONDO:equivalentTo"} xref: UMLS:CN203788 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="Orphanet:314718", source="Orphanet:314718/inferred"} ! vascular disorder @@ -344599,8 +358803,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare [Term] id: MONDO:0017819 name: atypical dentin dysplasia due to SMOC2 deficiency +subset: gard_rare {source="GARD:17433"} subset: ordo_clinical_subtype {source="Orphanet:314721"} synonym: "dentin dysplasia type 1 with microdontia and shape anomalies" EXACT [Orphanet:314721] +xref: GARD:17433 {source="Orphanet:314721"} xref: ICD10CM:K00.5 {source="Orphanet:314721/attributed", source="Orphanet:314721/ntbt", source="Orphanet:314721"} xref: Orphanet:314721 {source="MONDO:equivalentTo"} xref: UMLS:CN203789 {source="MONDO:equivalentTo"} @@ -344612,7 +358818,9 @@ id: MONDO:0017820 name: obsolete obsolete disease with Cushing syndrome as a major feature def: "OBSOLETE. A disease in which Cushing syndrome is a major feature." [https://orcid.org/0000-0002-6601-2165] comment: This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. +subset: gard_rare {source="GARD:21388"} synonym: "rare disease with Cushing syndrome as a major feature" EXACT [Orphanet:314749] +xref: GARD:21388 {source="MONDO:obsoleteEquivalent", source="Orphanet:314749"} xref: Orphanet:314749 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203791 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -344630,8 +358838,10 @@ replaced_by: MONDO:0003429 id: MONDO:0017822 name: mixed functioning pituitary adenoma subset: disease_grouping +subset: gard_rare {source="GARD:21390"} subset: ordo_group_of_disorders {source="Orphanet:314759"} synonym: "mixed secreting pituitary adenoma" EXACT [Orphanet:314759] +xref: GARD:21390 {source="Orphanet:314759"} xref: Orphanet:314759 {source="MONDO:equivalentTo"} xref: SCTID:254961003 {source="MONDO:equivalentTo"} xref: UMLS:C0346305 {source="MONDO:equivalentTo", source="Orphanet:314759", source="Orphanet:314759/e"} @@ -344640,11 +358850,13 @@ is_a: MONDO:0003429 {source="Orphanet:314759"} ! functioning pituitary gland ade [Term] id: MONDO:0017823 name: somatomammotropinoma +subset: gard_rare {source="GARD:21391"} subset: ordo_disease {source="Orphanet:314769"} synonym: "GH and PRL cosecreting pituitary adenoma" EXACT [Orphanet:314769] synonym: "Growth hormone and prolactin cosecreting pituitary adenoma" EXACT [Orphanet:314769] synonym: "Somatolactotropinoma" EXACT [Orphanet:314769] synonym: "Somatoprolactinoma" EXACT [Orphanet:314769] +xref: GARD:21391 {source="Orphanet:314769"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314769", source="Orphanet:314769/ntbt"} xref: Orphanet:314769 {source="MONDO:equivalentTo"} xref: UMLS:CN203793 {source="MONDO:equivalentTo"} @@ -344654,8 +358866,10 @@ is_a: MONDO:0017822 {source="Orphanet:314769"} ! mixed functioning pituitary ade id: MONDO:0017824 name: familial isolated pituitary adenoma comment: Editor note: TODO check this +subset: gard_rare {source="GARD:10959"} subset: ordo_disease {source="Orphanet:314777"} synonym: "FIPA" EXACT ABBREVIATION [Orphanet:314777] +xref: GARD:10959 {source="Orphanet:314777"} xref: ICD10CM:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="Orphanet:314777/ntbt"} xref: OMIMPS:102200 {source="MONDO:equivalentTo"} xref: Orphanet:314777 {source="MONDO:equivalentTo"} @@ -344670,7 +358884,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:102200"} ! inheri [Term] id: MONDO:0017825 name: silent pituitary adenoma +subset: gard_rare {source="GARD:21392"} subset: ordo_histopathological_subtype {source="Orphanet:314786"} +xref: GARD:21392 {source="Orphanet:314786"} xref: ICD10CM:D35.2 {source="Orphanet:314786", source="MONDO:relatedTo", source="Orphanet:314786/ntbt"} xref: Orphanet:314786 {source="MONDO:equivalentTo"} xref: UMLS:CN203795 {source="MONDO:equivalentTo"} @@ -344679,7 +358895,9 @@ is_a: MONDO:0019613 {source="Orphanet:314786"} ! non-functioning pituitary adeno [Term] id: MONDO:0017826 name: null pituitary adenoma +subset: gard_rare {source="GARD:21393"} subset: ordo_histopathological_subtype {source="Orphanet:314790"} +xref: GARD:21393 {source="Orphanet:314790"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314790/ntbt", source="Orphanet:314790"} xref: Orphanet:314790 {source="MONDO:equivalentTo"} xref: UMLS:CN203796 {source="MONDO:equivalentTo"} @@ -344689,6 +358907,7 @@ is_a: MONDO:0019613 {source="Orphanet:314790"} ! non-functioning pituitary adeno id: MONDO:0017827 name: malignant peripheral nerve sheath tumor def: "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." [Orphanet:3148] +subset: gard_rare {source="GARD:10872"} subset: ordo_disease {source="Orphanet:3148"} synonym: "Malig. periph. nerve sheath tum." EXACT [NCIT:C3798] synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C3798] @@ -344713,6 +358932,7 @@ synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798] synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "schwannoma, malignant" EXACT [NCIT:C3798] xref: DOID:5940 {source="MONDO:equivalentTo"} +xref: GARD:10872 {source="Orphanet:3148"} xref: ICD10CM:C47.9 {source="Orphanet:3148/ntbt", source="Orphanet:3148"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9540/3 {source="NCIT:C3798"} @@ -344738,6 +358958,8 @@ is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C3798"} ! peripheral [Term] id: MONDO:0017828 name: obsolete primary renal tubular acidosis +subset: gard_rare {source="GARD:7552"} +xref: GARD:7552 {source="MONDO:obsoleteEquivalent", source="Orphanet:314822"} xref: ICD10CM:N25.8 {source="Orphanet:314822/attributed", source="Orphanet:314822/ntbt", source="Orphanet:314822"} xref: Orphanet:314822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -344750,9 +358972,11 @@ is_obsolete: true id: MONDO:0017829 name: autosomal dominant proximal renal tubular acidosis def: "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." [Orphanet:314889] +subset: gard_rare {source="GARD:21394"} subset: ordo_clinical_subtype {source="Orphanet:314889"} synonym: "AD pRTA" EXACT [Orphanet:314889] synonym: "proximal renal tubular acidosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:21394 {source="Orphanet:314889"} xref: ICD10CM:N25.8 {source="Orphanet:314889/attributed", source="Orphanet:314889/ntbt", source="Orphanet:314889"} xref: Orphanet:314889 {source="MONDO:equivalentTo"} xref: UMLS:CN203801 {source="MONDO:equivalentTo"} @@ -344764,9 +358988,11 @@ intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance id: MONDO:0017830 name: severe Canavan disease def: "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." [Orphanet:314911] +subset: gard_rare {source="GARD:17437"} subset: ordo_clinical_subtype {source="Orphanet:314911"} synonym: "infantile Canavan disease" EXACT [Orphanet:314911] synonym: "neonatal Canavan disease" EXACT [Orphanet:314911] +xref: GARD:17437 {source="Orphanet:314911"} xref: ICD10CM:E75.2 {source="Orphanet:314911/attributed", source="Orphanet:314911/ntbt", source="Orphanet:314911"} xref: Orphanet:314911 {source="MONDO:equivalentTo"} xref: UMLS:C0751664 {source="Orphanet:314911", source="MONDO:notFoundInDiseaseSubset"} @@ -344778,8 +359004,10 @@ is_a: MONDO:0010079 {source="Orphanet:314911"} ! Canavan disease id: MONDO:0017831 name: mild Canavan disease def: "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." [Orphanet:314918] +subset: gard_rare {source="GARD:17438"} subset: ordo_clinical_subtype {source="Orphanet:314918"} synonym: "juvenile Canavan disease" EXACT [Orphanet:314918] +xref: GARD:17438 {source="Orphanet:314918"} xref: ICD10CM:E75.2 {source="Orphanet:314918/attributed", source="Orphanet:314918/ntbt", source="Orphanet:314918"} xref: Orphanet:314918 {source="MONDO:equivalentTo"} xref: UMLS:C0751667 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:314918"} @@ -344806,12 +359034,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare [Term] id: MONDO:0017833 name: primary hypereosinophilic syndrome +subset: gard_rare {source="GARD:21395"} subset: ordo_disease {source="Orphanet:314950"} synonym: "clonal hypereosinophilic syndrome" EXACT [Orphanet:314950] synonym: "HES-M" EXACT [Orphanet:314950] synonym: "HES-N" EXACT [Orphanet:314950] synonym: "neoplastic hypereosinophilic syndrome" EXACT [Orphanet:314950] synonym: "primary HES" EXACT [Orphanet:314950] +xref: GARD:21395 {source="Orphanet:314950"} xref: Orphanet:314950 {source="MONDO:equivalentTo"} xref: UMLS:CN203808 {source="MONDO:equivalentTo"} is_a: MONDO:0015691 {source="Orphanet:314950"} ! hypereosinophilic syndrome @@ -344819,10 +359049,12 @@ is_a: MONDO:0015691 {source="Orphanet:314950"} ! hypereosinophilic syndrome [Term] id: MONDO:0017834 name: secondary hypereosinophilic syndrome +subset: gard_rare {source="GARD:21396"} subset: ordo_disease {source="Orphanet:314962"} synonym: "HES-R" EXACT [Orphanet:314962] synonym: "reactive hypereosinophilic syndrome" EXACT [Orphanet:314962] synonym: "secondary HES" EXACT [Orphanet:314962] +xref: GARD:21396 {source="Orphanet:314962"} xref: Orphanet:314962 {source="MONDO:equivalentTo"} xref: UMLS:CN203809 {source="MONDO:equivalentTo"} is_a: MONDO:0015691 {source="Orphanet:314962"} ! hypereosinophilic syndrome @@ -344830,10 +359062,12 @@ is_a: MONDO:0015691 {source="Orphanet:314962"} ! hypereosinophilic syndrome [Term] id: MONDO:0017835 name: lymphocytic hypereosinophilic syndrome +subset: gard_rare {source="GARD:21397"} subset: ordo_clinical_subtype {source="Orphanet:314970"} synonym: "HES-L" EXACT [Orphanet:314970] synonym: "lymphocytic variant HES" EXACT [Orphanet:314970] synonym: "lymphoid HES" EXACT [Orphanet:314970] +xref: GARD:21397 {source="Orphanet:314970"} xref: Orphanet:314970 {source="MONDO:equivalentTo"} xref: UMLS:CN203810 {source="MONDO:equivalentTo"} is_a: MONDO:0017834 {source="Orphanet:314970"} ! secondary hypereosinophilic syndrome @@ -344842,7 +359076,7 @@ is_a: MONDO:0017834 {source="Orphanet:314970"} ! secondary hypereosinophilic syn id: MONDO:0017836 name: erythrokeratoderma en cocardes def: "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." [Orphanet:315] -subset: gard_rare +subset: gard_rare {source="GARD:1722"} subset: ordo_disease {source="Orphanet:315"} synonym: "Degos 'en cocarde' erythrokeratoderma" RELATED [GARD:0001722] synonym: "Degos genodermatosis" EXACT [Orphanet:315] @@ -344851,6 +359085,7 @@ synonym: "Degos genodermatosis 'en cocardes'" RELATED [GARD:0001722] synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315] synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315] synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722] +xref: GARD:1722 {source="Orphanet:315"} xref: ICD10CM:Q82.8 {source="Orphanet:315", source="Orphanet:315/attributed", source="Orphanet:315/ntbt"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:315 {source="GARD:0001722", source="MONDO:equivalentTo"} @@ -344865,7 +359100,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1722/degos-e id: MONDO:0017837 name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome def: "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." [Orphanet:3151] +subset: gard_rare {source="GARD:18787"} subset: ordo_disease {source="Orphanet:3151"} +xref: GARD:18787 {source="Orphanet:3151"} xref: ICD10CM:G37.8 {source="Orphanet:3151/attributed", source="Orphanet:3151/ntbt", source="Orphanet:3151"} xref: Orphanet:3151 {source="MONDO:equivalentTo"} xref: UMLS:CN203814 {source="MONDO:equivalentTo"} @@ -344879,10 +359116,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017838 name: sclerosteosis def: "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." [Orphanet:3152] +subset: gard_rare {source="GARD:4771"} subset: ordo_malformation_syndrome {source="Orphanet:3152"} synonym: "cortical hyperostosis with syndactyly" EXACT [NCIT:C131133] synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152] xref: DOID:0060251 {source="MONDO:equivalentTo"} +xref: GARD:4771 {source="Orphanet:3152"} xref: ICD10CM:M85.2 {source="Orphanet:3152/attributed", source="Orphanet:3152/ntbt", source="Orphanet:3152"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537525 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="Orphanet:3152", source="DOID:0060251"} @@ -344900,8 +359139,10 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:269500"} ! inheri id: MONDO:0017839 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form def: "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." [Orphanet:315306] +subset: gard_rare {source="GARD:21398"} subset: ordo_clinical_subtype {source="Orphanet:315306"} synonym: "classic 21-OHD CAH, salt wasting form" EXACT [Orphanet:315306] +xref: GARD:21398 {source="Orphanet:315306"} xref: ICD10CM:E25.0 {source="Orphanet:315306/attributed", source="Orphanet:315306/ntbt", source="Orphanet:315306"} xref: Orphanet:315306 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315306"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency @@ -344910,8 +359151,10 @@ is_a: MONDO:0008728 {source="Orphanet:315306"} ! classic congenital adrenal hype id: MONDO:0017840 name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form def: "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." [Orphanet:315311] +subset: gard_rare {source="GARD:21399"} subset: ordo_clinical_subtype {source="Orphanet:315311"} synonym: "classic 21-OHD CAH, simple virilizing form" EXACT [Orphanet:315311] +xref: GARD:21399 {source="Orphanet:315311"} xref: ICD10CM:E25.0 {source="Orphanet:315311/attributed", source="Orphanet:315311/ntbt", source="Orphanet:315311"} xref: Orphanet:315311 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315311"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency @@ -344921,11 +359164,13 @@ id: MONDO:0017841 name: obsolete autoimmune disease with skin involvement def: "OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body." [MONDO:patterns/location] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease' +subset: gard_rare {source="GARD:21400"} subset: ordo_group_of_disorders {source="Orphanet:315350"} synonym: "autoimmune disease of skin and connective tissue" EXACT [MONDO:0000593] synonym: "integument hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "skin of body hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060039 {source="MONDO:obsoleteEquivalent"} +xref: GARD:21400 {source="MONDO:obsoleteEquivalent", source="Orphanet:315350"} xref: Orphanet:315350 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203818 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -344937,6 +359182,7 @@ consider: MONDO:0007179 id: MONDO:0017842 name: Senior-Loken syndrome def: "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." [Orphanet:3156] +subset: gard_rare {source="GARD:322"} subset: ordo_disease {source="Orphanet:3156"} synonym: "Loken Senior syndrome" EXACT [DOID:0050576] synonym: "nephronophthisis with retinal dystrophy" EXACT [Orphanet:3156] @@ -344946,6 +359192,7 @@ synonym: "renal-retinal syndrome" EXACT [DOID:0050576] synonym: "Senior Loken syndrome" RELATED [GARD:0000322] synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156] xref: DOID:0050576 {source="MONDO:equivalentTo"} +xref: GARD:322 {source="Orphanet:3156"} xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/attributed", source="Orphanet:3156/ntbt"} xref: MESH:C537580 {source="Orphanet:3156", source="MONDO:equivalentTo", source="Orphanet:3156/e"} xref: NCIT:C168588 {source="MONDO:equivalentTo"} @@ -344965,12 +359212,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:266900"} ! inheri id: MONDO:0017843 name: congenital pulmonary sequestration def: "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." [NCIT:C97124] +subset: gard_rare {source="GARD:4593"} subset: ordo_malformation_syndrome {source="Orphanet:3161"} synonym: "bronchopulmonary sequestration" EXACT [NCIT:C97124] synonym: "congenital bronchopulmonary sequestration" EXACT [Orphanet:3161] synonym: "congenital sequestration of lung" EXACT [NCIT:C97124] synonym: "pulmonary sequestration" EXACT [GARD:0004593, NCIT:C97124] synonym: "sequestered lobe (pulmonary sequestration)" EXACT [NCIT:C97124] +xref: GARD:4593 {source="Orphanet:3161"} xref: ICD10CM:Q33.2 {source="Orphanet:3161/e", source="Orphanet:3161"} xref: MESH:D001998 {source="MONDO:equivalentTo"} xref: NCIT:C97124 {source="MONDO:equivalentTo"} @@ -344984,6 +359233,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017844 name: Sezary syndrome def: "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." [Orphanet:3162] +subset: gard_rare {source="GARD:7629"} subset: ordo_disease {source="Orphanet:3162"} synonym: "CTCL / Sezary syndrome" EXACT [NCIT:C3366] synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [NCIT:C3366] @@ -344998,6 +359248,7 @@ synonym: "Sézary lymphoma" EXACT [Orphanet:3162] synonym: "Sézary syndrome" EXACT [Orphanet:3162] xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"} xref: EFO:1000785 {source="MONDO:equivalentTo"} +xref: GARD:7629 {source="Orphanet:3162"} xref: ICD10CM:C84.1 {source="Orphanet:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: ICD10CM:C84.10 {source="DOID:8541"} xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"} @@ -345019,9 +359270,11 @@ is_a: MONDO:0000607 {source="DOID:8541", source="EFO:1000785", source="MESH:D012 id: MONDO:0017845 name: spastic ataxia subset: disease_grouping +subset: gard_rare {source="GARD:21401"} subset: ordo_group_of_disorders {source="Orphanet:316226"} synonym: "SPAX" EXACT ABBREVIATION [Orphanet:316226] xref: DOID:0050952 {source="MONDO:equivalentTo"} +xref: GARD:21401 {source="Orphanet:316226"} xref: ICD10CM:G11.4 {source="Orphanet:316226", source="Orphanet:316226/index", source="MONDO:relatedTo", source="Orphanet:316226/ntbt"} xref: MESH:C564815 {source="MONDO:equivalentTo"} xref: OMIMPS:108600 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -345035,9 +359288,11 @@ id: MONDO:0017846 name: autosomal dominant spastic ataxia def: "Autosomal dominant form of spastic ataxia." [MONDO:patterns/autosomal_dominant] subset: disease_grouping +subset: gard_rare {source="GARD:21402"} subset: ordo_group_of_disorders {source="Orphanet:316235"} synonym: "AD-SPAX" EXACT [Orphanet:316235] synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:21402 {source="Orphanet:316235"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"} xref: Orphanet:316235 {source="MONDO:equivalentTo"} xref: UMLS:CN229111 {source="MONDO:equivalentTo"} @@ -345050,9 +359305,11 @@ id: MONDO:0017847 name: autosomal recessive spastic ataxia def: "Autosomal recessive form of spastic ataxia." [MONDO:patterns/autosomal_recessive] subset: disease_grouping +subset: gard_rare {source="GARD:21403"} subset: ordo_group_of_disorders {source="Orphanet:316240"} synonym: "AR-SPAX" EXACT [Orphanet:316240] synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:21403 {source="Orphanet:316240"} xref: ICD10CM:G11.8 {source="Orphanet:316240", source="Orphanet:316240/attributed", source="Orphanet:316240/ntbt"} xref: Orphanet:316240 {source="MONDO:equivalentTo"} xref: UMLS:CN229112 {source="MONDO:equivalentTo"} @@ -345072,10 +359329,11 @@ replaced_by: MONDO:0022174 id: MONDO:0017849 name: Siegler-Brewer-Carey syndrome def: "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." [Orphanet:3167] -subset: gard_rare {source="GARD:0004867"} +subset: gard_rare {source="GARD:4867"} subset: ordo_malformation_syndrome {source="Orphanet:3167"} synonym: "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" RELATED [GARD:0004867] synonym: "Siegler Brewer Carey syndrome" RELATED [GARD:0004867] +xref: GARD:4867 {source="Orphanet:3167"} xref: MESH:C537335 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"} xref: Orphanet:3167 {source="MONDO:equivalentTo"} xref: SCTID:721076000 {source="MONDO:equivalentTo"} @@ -345088,6 +359346,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4867/siegler id: MONDO:0017850 name: sirenomelia def: "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." [Orphanet:3169] +subset: gard_rare {source="GARD:7652"} subset: ordo_malformation_syndrome {source="Orphanet:3169"} synonym: "Fused legs and feet" RELATED [GARD:0007652] synonym: "mermaid malformation" RELATED [GARD:0007652] @@ -345095,6 +359354,7 @@ synonym: "mermaid syndrome" RELATED [GARD:0007652] synonym: "sirenomelia sequence" RELATED [GARD:0007652] synonym: "Sirenomelus" RELATED [GARD:0007652] synonym: "symmelia" EXACT [NCIT:C118455] +xref: GARD:7652 {source="Orphanet:3169"} xref: ICD10CM:Q87.2 {source="Orphanet:3169/inclusion", source="Orphanet:3169", source="Orphanet:3169/ntbt"} xref: MedDRA:10049216 {source="Orphanet:3169", source="Orphanet:3169/e"} xref: MESH:C538595 {source="Orphanet:3169", source="Orphanet:3169/e"} @@ -345109,7 +359369,7 @@ property_value: confidence "0.12499999999999978" xsd:double id: MONDO:0017851 name: erythrokeratodermia variabilis def: "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema." [https://orcid.org/0000-0001-5208-3432, NCIT:C84696] -subset: gard_rare +subset: gard_rare {source="GARD:16528", source="GARD:18639"} subset: ordo_disease {source="Orphanet:317", source="Orphanet:316"} synonym: "Darier-Gottron disease" RELATED [Orphanet:316] synonym: "EKV" EXACT ABBREVIATION [Orphanet:317] @@ -345133,6 +359393,8 @@ synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0 synonym: "progressive symmetric erythrokeratodermia" RELATED [Orphanet:316] synonym: "progressive symmetric erythrokeratodermia, Gottron type" RELATED [Orphanet:316] xref: DOID:0050467 {source="MONDO:equivalentTo"} +xref: GARD:16528 {source="Orphanet:317"} +xref: GARD:18639 {source="Orphanet:316"} xref: ICD10CM:Q82.8 {source="Orphanet:316/attributed", source="Orphanet:316/ntbt", source="Orphanet:317/attributed", source="Orphanet:317/ntbt", source="Orphanet:317", source="Orphanet:316"} xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"} xref: MESH:C536154 {source="MONDO:equivalentTo"} @@ -345157,11 +359419,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3096/keratod id: MONDO:0017852 name: infantile spasms-broad thumbs syndrome def: "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." [Orphanet:3173] -subset: gard_rare +subset: gard_rare {source="GARD:3002"} subset: ordo_disease {source="Orphanet:3173"} synonym: "infantile spasms broad thumbs" RELATED [GARD:0003002] synonym: "Tsao Ellingson syndrome" RELATED [GARD:0003002] synonym: "Tsao-Ellingson syndrome" EXACT [Orphanet:3173] +xref: GARD:3002 {source="Orphanet:3173"} xref: ICD10CM:G40.4 {source="Orphanet:3173/attributed", source="Orphanet:3173/ntbt", source="Orphanet:3173"} xref: Orphanet:3173 {source="GARD:0003002", source="MONDO:equivalentTo"} xref: UMLS:CN203849 {source="MONDO:equivalentTo"} @@ -345174,7 +359437,7 @@ id: MONDO:0017853 name: hypersensitivity pneumonitis def: "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." [Orphanet:31740] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:12"} subset: ordo_group_of_disorders {source="Orphanet:31740"} synonym: "allergic form of pneumonitis" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic interstitial pneumonitis" RELATED [GARD:0000012] @@ -345187,6 +359450,7 @@ synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GA synonym: "HP" EXACT ABBREVIATION [Orphanet:31740] synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, GARD:0000012, NCIT:C34369] xref: DOID:841 {source="MONDO:equivalentTo"} +xref: GARD:12 {source="Orphanet:31740"} xref: ICD10CM:J67.0 {source="Orphanet:31740", source="Orphanet:31740/btnt"} xref: ICD10CM:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="Orphanet:31740/btnt"} xref: ICD10CM:J67.2 {source="Orphanet:31740", source="Orphanet:31740/btnt", source="MONDO:directSiblingOf"} @@ -345229,8 +359493,10 @@ id: MONDO:0017855 name: T-B- severe combined immunodeficiency def: "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." [Orphanet:317419] subset: disease_grouping +subset: gard_rare {source="GARD:21406"} subset: ordo_group_of_disorders {source="Orphanet:317419"} synonym: "T-B- SCID" EXACT [Orphanet:317419] +xref: GARD:21406 {source="Orphanet:317419"} xref: ICD10CM:D81.1 {source="Orphanet:317419", source="Orphanet:317419/e", source="Orphanet:317419/specific"} xref: Orphanet:317419 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficiency @@ -345238,7 +359504,9 @@ is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficienc [Term] id: MONDO:0017856 name: X-linked spasticity-intellectual disability-epilepsy syndrome +subset: gard_rare {source="GARD:16622"} subset: ordo_disease {source="Orphanet:3175"} +xref: GARD:16622 {source="Orphanet:3175"} xref: ICD10CM:G25.3 {source="Orphanet:3175/attributed", source="Orphanet:3175/ntbt", source="Orphanet:3175"} xref: Orphanet:3175 {source="MONDO:equivalentTo"} xref: UMLS:CN203866 {source="MONDO:equivalentTo"} @@ -345250,7 +359518,9 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3175"} ! X-lin id: MONDO:0017857 name: spina bifida-hypospadias syndrome def: "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." [Orphanet:3176] +subset: gard_rare {source="GARD:4940"} subset: ordo_malformation_syndrome {source="Orphanet:3176"} +xref: GARD:4940 {source="Orphanet:3176"} xref: ICD10CM:Q05.9 {source="Orphanet:3176/attributed", source="Orphanet:3176/ntbt", source="Orphanet:3176"} xref: Orphanet:3176 {source="MONDO:equivalentTo"} xref: UMLS:CN203872 {source="MONDO:equivalentTo"} @@ -345262,7 +359532,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017858 name: acute erythroid leukemia def: "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" [NCIT:C8923] -subset: gard_rare {source="GARD:0009620"} +subset: gard_rare {source="GARD:9620"} subset: ordo_disease {source="Orphanet:318"} synonym: "acute erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923] @@ -345287,6 +359557,7 @@ synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923] synonym: "M6 acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923] xref: DOID:0080780 {source="MONDO:equivalentTo"} +xref: GARD:9620 {source="Orphanet:318"} xref: ICD10CM:C94.0 {source="Orphanet:318", source="Orphanet:318/ntbt"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:207.00 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -345306,7 +359577,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9750/di-gugl id: MONDO:0017859 name: colchicine poisoning def: "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." [Orphanet:31824] +subset: gard_rare {source="GARD:18803"} subset: ordo_clinical_situation {source="Orphanet:31824"} +xref: GARD:18803 {source="Orphanet:31824"} xref: ICD10CM:T50.4 {source="Orphanet:31824", source="Orphanet:31824/ntbt"} xref: ICD9:974.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:31824 {source="MONDO:equivalentTo"} @@ -345320,7 +359593,9 @@ intersection_of: realized_in_response_to_stimulus CHEBI:23359 ! colchicine id: MONDO:0017860 name: methanol poisoning def: "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." [Orphanet:31825] +subset: gard_rare {source="GARD:18804"} subset: ordo_disease {source="Orphanet:31825"} +xref: GARD:18804 {source="Orphanet:31825"} xref: ICD10CM:T51.1 {source="Orphanet:31825", source="Orphanet:31825/e"} xref: Orphanet:31825 {source="MONDO:equivalentTo"} xref: UMLS:CN203895 {source="MONDO:equivalentTo"} @@ -345333,7 +359608,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0017861 name: ethylene glycol poisoning def: "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." [Orphanet:31826] +subset: gard_rare {source="GARD:18805"} subset: ordo_disease {source="Orphanet:31826"} +xref: GARD:18805 {source="Orphanet:31826"} xref: ICD10CM:T52.8 {source="Orphanet:31826/ntbt", source="Orphanet:31826"} xref: ICD9:982.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:31826 {source="MONDO:equivalentTo"} @@ -345348,7 +359625,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0017862 name: paraquat poisoning def: "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." [Orphanet:31827] +subset: gard_rare {source="GARD:18806"} subset: ordo_disease {source="Orphanet:31827"} +xref: GARD:18806 {source="Orphanet:31827"} xref: ICD10CM:T60.3 {source="Orphanet:31827", source="Orphanet:31827/ntbt"} xref: Orphanet:31827 {source="MONDO:equivalentTo"} xref: UMLS:CN227212 {source="MONDO:equivalentTo"} @@ -345361,7 +359640,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0017863 name: digitalis poisoning def: "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." [Orphanet:31828] +subset: gard_rare {source="GARD:18807"} subset: ordo_clinical_situation {source="Orphanet:31828"} +xref: GARD:18807 {source="Orphanet:31828"} xref: ICD10CM:T46.0 {source="Orphanet:31828/ntbt", source="Orphanet:31828"} xref: Orphanet:31828 {source="MONDO:equivalentTo"} xref: SCTID:12876009 {source="MONDO:equivalentTo"} @@ -345375,9 +359656,11 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0017864 name: congenital pulmonary veins atresia or stenosis def: "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." [Orphanet:3188] +subset: gard_rare {source="GARD:4598"} subset: ordo_morphological_anomaly {source="Orphanet:3188"} synonym: "pulmonary vein stenosis" RELATED [GARD:0004598] synonym: "pulmonary veins stenosis" RELATED [GARD:0004598] +xref: GARD:4598 {source="Orphanet:3188"} xref: ICD10CM:Q26.3 {source="Orphanet:3188", source="Orphanet:3188/e"} xref: Orphanet:3188 {source="MONDO:equivalentTo"} xref: SCTID:234062003 {source="MONDO:equivalentTo"} @@ -345390,12 +359673,13 @@ is_a: MONDO:0020292 {source="Orphanet:3188"} ! congenital anomaly of the great a id: MONDO:0017865 name: congenital pulmonary valve stenosis def: "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." [Orphanet:3189] -subset: gard_rare +subset: gard_rare {source="GARD:16623"} subset: ordo_morphological_anomaly {source="Orphanet:3189"} synonym: "heart valve pulmonary stenosis" RELATED [GARD:0004596] synonym: "valvar pulmonary stenosis" RELATED [GARD:0004596] synonym: "valvate pulmonary stenosis" RELATED [GARD:0004596] synonym: "valvular pulmonary stenosis" RELATED [GARD:0004596] +xref: GARD:16623 {source="Orphanet:3189"} xref: ICD10CM:Q22.1 {source="Orphanet:3189", source="MONDO:equivalentTo", source="Orphanet:3189/e"} xref: MedDRA:10037451 {source="Orphanet:3189", source="Orphanet:3189/e"} xref: MESH:D011666 {source="Orphanet:3189", source="MONDO:relatedTo", source="Orphanet:3189/e"} @@ -345410,8 +359694,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017866 name: subpulmonary stenosis -subset: gard_rare {source="GARD:0005051"} +subset: gard_rare {source="GARD:5051"} subset: ordo_clinical_subtype {source="Orphanet:3190"} +xref: GARD:5051 {source="Orphanet:3190"} xref: ICD10CM:Q24.3 {source="Orphanet:3190", source="Orphanet:3190/e"} xref: Orphanet:3190 {source="MONDO:equivalentTo"} xref: SCTID:448476001 {source="MONDO:equivalentTo"} @@ -345423,8 +359708,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5051/subpulm id: MONDO:0017867 name: distal 17p13.1 microdeletion syndrome def: "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [Orphanet:319171] +subset: gard_rare {source="GARD:10996"} subset: ordo_malformation_syndrome {source="Orphanet:319171"} synonym: "distal del(17)(p13.1)" EXACT [Orphanet:319171] +xref: GARD:10996 {source="Orphanet:319171"} xref: ICD10CM:Q93.5 {source="Orphanet:319171/attributed", source="Orphanet:319171/ntbt", source="Orphanet:319171"} xref: Orphanet:319171 {source="MONDO:equivalentTo"} xref: UMLS:CN203914 {source="MONDO:equivalentTo"} @@ -345442,8 +359729,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017868 name: diencephalic-mesencephalic junction dysplasia def: "A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:319192] +subset: gard_rare {source="GARD:21407"} subset: ordo_morphological_anomaly {source="Orphanet:319192"} synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0033211] +xref: GARD:21407 {source="Orphanet:319192"} xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="Orphanet:319192/attributed", source="Orphanet:319192/ntbt"} xref: OMIMPS:251280 {source="MONDO:equivalentTo"} xref: Orphanet:319192 {source="MONDO:equivalentTo"} @@ -345457,7 +359746,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017869 name: chondroectodermal dysplasia with night blindness def: "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." [Orphanet:319195] +subset: gard_rare {source="GARD:21408"} subset: ordo_disease {source="Orphanet:319195"} +xref: GARD:21408 {source="Orphanet:319195"} xref: ICD10CM:Q77.6 {source="Orphanet:319195/attributed", source="Orphanet:319195/ntbt", source="Orphanet:319195"} xref: Orphanet:319195 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="Orphanet:319195"} ! eye disorder @@ -345470,9 +359761,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare [Term] id: MONDO:0017870 name: supravalvular pulmonary stenosis -subset: gard_rare {source="GARD:0004594"} +subset: gard_rare {source="GARD:4594"} subset: ordo_clinical_subtype {source="Orphanet:3192"} synonym: "pulmonary supravalvular stenosis" RELATED [GARD:0004594] +xref: GARD:4594 {source="Orphanet:3192"} xref: ICD10CM:Q25.6 {source="Orphanet:3192", source="Orphanet:3192/e"} xref: Orphanet:3192 {source="MONDO:equivalentTo"} xref: UMLS:C2910138 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0004594"} @@ -345482,10 +359774,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4594/pulmona [Term] id: MONDO:0017871 name: bilateral massive adrenal hemorrhage +subset: gard_rare {source="GARD:21409"} subset: ordo_etiological_subtype {source="Orphanet:319205"} synonym: "bilateral adrenal haemorrhage" EXACT OMO:0003005 [] synonym: "bilateral adrenal hemorrhage" EXACT [Orphanet:319205] synonym: "BMAH" EXACT ABBREVIATION [Orphanet:319205] +xref: GARD:21409 {source="Orphanet:319205"} xref: ICD10CM:E27.4 {source="Orphanet:319205/ntbt", source="Orphanet:319205"} xref: Orphanet:319205 {source="MONDO:equivalentTo"} xref: UMLS:CN203920 {source="MONDO:equivalentTo"} @@ -345495,9 +359789,11 @@ is_a: MONDO:0019801 {source="Orphanet:319205"} ! acute adrenal insufficiency id: MONDO:0017872 name: Lujo hemorrhagic fever def: "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." [Orphanet:319213] +subset: gard_rare {source="GARD:21410"} subset: ordo_disease {source="Orphanet:319213"} synonym: "Zambian hemorrhagic fever" EXACT [Orphanet:319213] xref: DOID:0050202 {source="MONDO:equivalentTo"} +xref: GARD:21410 {source="Orphanet:319213"} xref: ICD10CM:A96.8 {source="Orphanet:319213", source="Orphanet:319213/ntbt"} xref: Orphanet:319213 {source="MONDO:equivalentTo"} xref: SCTID:716585008 {source="MONDO:equivalentTo"} @@ -345517,10 +359813,12 @@ replaced_by: MONDO:0005737 id: MONDO:0017874 name: Argentine hemorrhagic fever def: "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." [Orphanet:319223] +subset: gard_rare {source="GARD:21411"} subset: ordo_disease {source="Orphanet:319223"} synonym: "Argentinian hemorrhagic fever" EXACT [Orphanet:319223] synonym: "Junin hemorrhagic fever" EXACT [Orphanet:319223] xref: DOID:0050194 {source="MONDO:equivalentTo"} +xref: GARD:21411 {source="Orphanet:319223"} xref: ICD10CM:A96.0 {source="Orphanet:319223/e", source="Orphanet:319223"} xref: Orphanet:319223 {source="MONDO:equivalentTo"} xref: SCTID:58868000 {source="MONDO:equivalentTo"} @@ -345537,9 +359835,11 @@ relationship: transmitted_by NCBITaxon:56212 ! Calomys musculinus id: MONDO:0017875 name: Bolivian hemorrhagic fever def: "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." [Orphanet:319229] +subset: gard_rare {source="GARD:21412"} subset: ordo_disease {source="Orphanet:319229"} synonym: "Machupo hemorrhagic fever" EXACT [Orphanet:319229] xref: DOID:0050195 {source="MONDO:equivalentTo"} +xref: GARD:21412 {source="Orphanet:319229"} xref: ICD10CM:A96.1 {source="Orphanet:319229", source="Orphanet:319229/e"} xref: MedDRA:10005932 {source="Orphanet:319229", source="Orphanet:319229/e"} xref: Orphanet:319229 {source="MONDO:equivalentTo"} @@ -345555,9 +359855,11 @@ relationship: transmitted_by NCBITaxon:56210 ! Calomys callosus id: MONDO:0017876 name: Venezuelan hemorrhagic fever def: "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." [Orphanet:319234] +subset: gard_rare {source="GARD:21413"} subset: ordo_disease {source="Orphanet:319234"} synonym: "Guanarito hemorrhagic fever" EXACT [Orphanet:319234] xref: DOID:0050196 {source="MONDO:equivalentTo"} +xref: GARD:21413 {source="Orphanet:319234"} xref: ICD10CM:A96.8 {source="Orphanet:319234/ntbt", source="Orphanet:319234"} xref: Orphanet:319234 {source="MONDO:equivalentTo"} xref: SCTID:359673001 {source="MONDO:equivalentTo"} @@ -345573,9 +359875,11 @@ relationship: transmitted_by NCBITaxon:157541 ! Zygodontomys brevicauda id: MONDO:0017877 name: Brazilian hemorrhagic fever def: "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." [Orphanet:319239] +subset: gard_rare {source="GARD:21414"} subset: ordo_disease {source="Orphanet:319239"} synonym: "Sabia hemorrhagic fever" EXACT [Orphanet:319239] xref: DOID:0050197 {source="MONDO:equivalentTo"} +xref: GARD:21414 {source="Orphanet:319239"} xref: ICD10CM:A96.8 {source="Orphanet:319239/ntbt", source="Orphanet:319239"} xref: Orphanet:319239 {source="MONDO:equivalentTo"} xref: SCTID:240524001 {source="MONDO:equivalentTo"} @@ -345589,8 +359893,10 @@ relationship: disease_has_infectious_agent NCBITaxon:2169992 id: MONDO:0017878 name: Chapare hemorrhagic fever def: "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." [Orphanet:319244] +subset: gard_rare {source="GARD:21415"} subset: ordo_disease {source="Orphanet:319244"} xref: DOID:0050198 {source="MONDO:equivalentTo"} +xref: GARD:21415 {source="Orphanet:319244"} xref: ICD10CM:A96.8 {source="Orphanet:319244", source="Orphanet:319244/ntbt"} xref: Orphanet:319244 {source="MONDO:equivalentTo"} xref: SCTID:716584007 {source="MONDO:equivalentTo"} @@ -345605,7 +359911,7 @@ relationship: disease_has_infectious_agent NCBITaxon:499556 id: MONDO:0017879 name: hantavirus pulmonary syndrome def: "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." [NCIT:P378] -subset: gard_rare +subset: gard_rare {source="GARD:69"} subset: ordo_disease {source="Orphanet:319247"} synonym: "four corners hantavirus" RELATED [GARD:0000069] synonym: "Hantavirus" RELATED [GARD:0000069] @@ -345613,6 +359919,7 @@ synonym: "Hantavirus-associated respiratory distress syndrome" RELATED [GARD:000 synonym: "HARDS" RELATED ABBREVIATION [GARD:0000069] xref: DOID:14472 {source="MONDO:equivalentTo", source="EFO:0007296"} xref: EFO:0007296 {source="MONDO:equivalentTo"} +xref: GARD:69 {source="Orphanet:319247"} xref: ICD10EXP:B33.4+ {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD10EXP:J17.1* {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -345642,9 +359949,11 @@ relationship: transmitted_by NCBITaxon:56211 ! Calomys laucha id: MONDO:0017880 name: Rift valley fever def: "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." [Orphanet:319251] +subset: gard_rare {source="GARD:21416"} subset: ordo_disease {source="Orphanet:319251"} synonym: "RVF" EXACT ABBREVIATION [NCIT:C128419] xref: DOID:1328 {source="MONDO:equivalentTo"} +xref: GARD:21416 {source="Orphanet:319251"} xref: ICD10CM:A92.4 {source="Orphanet:319251", source="MONDO:equivalentTo", source="DOID:1328", source="Orphanet:319251/e"} xref: MedDRA:10039143 {source="Orphanet:319251", source="Orphanet:319251/e"} xref: MESH:D012295 {source="MONDO:equivalentTo", source="DOID:1328"} @@ -345663,7 +359972,7 @@ relationship: disease_has_infectious_agent NCBITaxon:11588 ! Rift Valley fever v id: MONDO:0017881 name: Kyasanur forest disease def: "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." [Orphanet:319254] -subset: gard_rare {source="GARD:0008257"} +subset: gard_rare {source="GARD:8257"} subset: ordo_disease {source="Orphanet:319254"} synonym: "KFD" RELATED ABBREVIATION [GARD:0008257] synonym: "KFD virus" RELATED [GARD:0008257] @@ -345674,6 +359983,7 @@ synonym: "Kyasanur hemorrhagic fever" EXACT [Orphanet:319254] synonym: "monkey disease" RELATED [Orphanet:319254] synonym: "monkey fever" RELATED [Orphanet:319254] xref: DOID:11320 {source="MONDO:equivalentTo"} +xref: GARD:8257 {source="Orphanet:319254"} xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"} xref: ICD9:065.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11320"} xref: MedDRA:10023505 {source="Orphanet:319254", source="Orphanet:319254/e"} @@ -345691,9 +360001,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8257/kyasanu id: MONDO:0017882 name: Omsk hemorrhagic fever def: "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." [Orphanet:319266] -subset: gard_rare {source="GARD:0008254"} +subset: gard_rare {source="GARD:8254"} subset: ordo_disease {source="Orphanet:319266"} xref: DOID:992 {source="MONDO:equivalentTo"} +xref: GARD:8254 {source="Orphanet:319266"} xref: ICD10CM:A98.1 {source="MONDO:equivalentTo", source="Orphanet:319266", source="DOID:992", source="Orphanet:319266/e"} xref: ICD9:065.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:992"} xref: MedDRA:10030310 {source="Orphanet:319266", source="Orphanet:319266/e"} @@ -345719,7 +360030,7 @@ replaced_by: MONDO:0003010 id: MONDO:0017884 name: papillary renal cell carcinoma def: "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." [Orphanet:319298] -subset: gard_rare {source="GARD:0009572"} +subset: gard_rare {source="GARD:9572"} subset: ordo_disease {source="Orphanet:47044", source="Orphanet:319298"} synonym: "chromophil carcinoma of kidney" EXACT [DOID:4465, NCIT:C6975] synonym: "chromophil carcinoma of the kidney" EXACT [NCIT:C6975] @@ -345744,6 +360055,7 @@ synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1, OMIM:6050 synonym: "sporadic papillary renal cell carcinoma" EXACT [DOID:4465] xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"} xref: EFO:0000640 {source="MONDO:equivalentTo"} +xref: GARD:9572 {source="Orphanet:319298"} xref: ICD10CM:C64 {source="Orphanet:47044", source="Orphanet:319298", source="Orphanet:319298/ntbt", source="Orphanet:47044/attributed", source="Orphanet:47044/ntbt"} xref: MESH:C538614 {source="DOID:4465", source="Orphanet:47044", source="Orphanet:47044/e"} xref: MESH:D002292 {source="DOID:4465"} @@ -345773,7 +360085,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9572/papilla id: MONDO:0017885 name: chromophobe renal cell carcinoma def: "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." [Orphanet:319303] -subset: gard_rare {source="GARD:0006064"} +subset: gard_rare {source="GARD:6064"} subset: ordo_disease {source="Orphanet:319303"} synonym: "CHRCC" RELATED ABBREVIATION [ONCOTREE:CHRCC] synonym: "ChRCC" RELATED [GARD:0006064] @@ -345792,6 +360104,7 @@ synonym: "renal cell carcinoma, chromophobe cell" EXACT [DOID:4471] synonym: "renal cell carcinoma, chromophobe type" EXACT [NCIT:C4146] xref: DOID:4471 {source="MONDO:equivalentTo", source="EFO:0000335"} xref: EFO:0000335 {source="MONDO:equivalentTo"} +xref: GARD:6064 {source="Orphanet:319303"} xref: ICD10CM:C64 {source="Orphanet:319303/ntbt", source="Orphanet:319303"} xref: ICDO:8270/3 {source="NCIT:C4146"} xref: ICDO:8317/3 {source="NCIT:C4146"} @@ -345813,9 +360126,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6064/chromop id: MONDO:0017886 name: MIT family translocation renal cell carcinoma def: "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." [Orphanet:319308] +subset: gard_rare {source="GARD:17446"} subset: ordo_disease {source="Orphanet:319308"} synonym: "carcinoma associated with MITF/TFE translocation" EXACT [Orphanet:319308] synonym: "translocation renal cell carcinoma" EXACT [Orphanet:319308] +xref: GARD:17446 {source="Orphanet:319308"} xref: ICD10CM:C64 {source="Orphanet:319308/ntbt", source="Orphanet:319308"} xref: Orphanet:319308 {source="MONDO:equivalentTo"} xref: SCTID:764694005 {source="MONDO:equivalentTo"} @@ -345847,8 +360162,10 @@ replaced_by: MONDO:0003011 id: MONDO:0017890 name: tubulocystic renal cell carcinoma def: "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." [Orphanet:319325] +subset: gard_rare {source="GARD:21419"} subset: ordo_disease {source="Orphanet:319325"} synonym: "Tubulocystic renal cell cancer" EXACT [NCIT:C126303] +xref: GARD:21419 {source="Orphanet:319325"} xref: ICD10CM:C64 {source="Orphanet:319325/ntbt", source="Orphanet:319325"} xref: NCIT:C126303 {source="MONDO:equivalentTo"} xref: Orphanet:319325 {source="MONDO:equivalentTo"} @@ -345860,6 +360177,8 @@ is_a: MONDO:0005549 {source="NCIT:C126303"} ! renal cell adenocarcinoma [Term] id: MONDO:0017891 name: obsolete inherited renal cancer-predisposing syndrome +subset: gard_rare {source="GARD:21420"} +xref: GARD:21420 {source="Orphanet:319328", source="MONDO:obsoleteEquivalent"} xref: Orphanet:319328 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203941 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -345873,10 +360192,12 @@ is_obsolete: true id: MONDO:0017892 name: autosomal recessive myogenic arthrogryposis multiplex congenita def: "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." [Orphanet:319332] +subset: gard_rare {source="GARD:17447"} subset: ordo_disease {source="Orphanet:319332"} synonym: "autosomal recessive myogenic AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related arthrogryposis multiplex congenita" EXACT [Orphanet:319332] +xref: GARD:17447 {source="Orphanet:319332"} xref: ICD10CM:Q74.3 {source="Orphanet:319332", source="Orphanet:319332/attributed", source="Orphanet:319332/ntbt"} xref: Orphanet:319332 {source="MONDO:equivalentTo"} xref: SCTID:764812008 {source="MONDO:equivalentTo"} @@ -345888,6 +360209,7 @@ is_a: MONDO:0019950 {source="Orphanet:319332"} ! congenital muscular dystrophy id: MONDO:0017893 name: inherited acute myeloid leukemia def: "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:17450"} subset: ordo_disease {source="Orphanet:319465"} synonym: "familial AML" EXACT [Orphanet:319465] synonym: "hereditary acute myeloid leukaemia" EXACT OMO:0003005 [] @@ -345896,6 +360218,7 @@ synonym: "inherited AML" EXACT [Orphanet:319465] synonym: "Pure familial acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465] synonym: "Pure familial AML" EXACT [Orphanet:319465] +xref: GARD:17450 {source="Orphanet:319465"} xref: ICD10CM:C92.0 {source="Orphanet:319465/attributed", source="Orphanet:319465/ntbt", source="Orphanet:319465"} xref: Orphanet:319465 {source="MONDO:equivalentTo"} xref: SCTID:764940002 {source="MONDO:equivalentTo"} @@ -345912,6 +360235,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0017894 name: acute myeloid leukemia with CEBPA somatic mutations def: "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." [Orphanet:319480] +subset: gard_rare {source="GARD:17451"} subset: ordo_disease {source="Orphanet:319480"} synonym: "acute myeloid Leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "acute myeloid Leukaemia with non-germline mutated CEBPA" EXACT OMO:0003005 [] @@ -345922,6 +360246,7 @@ synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433] synonym: "non-familial acute myeloid leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433] xref: DOID:0081095 {source="MONDO:equivalentTo"} +xref: GARD:17451 {source="Orphanet:319480"} xref: ICD10CM:C92.0 {source="Orphanet:319480", source="Orphanet:319480/attributed", source="Orphanet:319480/ntbt"} xref: NCIT:C82433 {source="MONDO:equivalentTo"} xref: Orphanet:319480 {source="MONDO:equivalentTo"} @@ -345934,10 +360259,12 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0017895 name: familial papillary or follicular thyroid carcinoma def: "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." [NCIT:C118829] +subset: gard_rare {source="GARD:8488"} subset: ordo_disease {source="Orphanet:319487"} synonym: "familial nonmedullary thyroid gland carcinoma" EXACT [NCIT:C118829] synonym: "familial pure nonmedullary thyroid carcinoma" EXACT [Orphanet:319487] synonym: "FNMTC" EXACT ABBREVIATION [NCIT:C118829, Orphanet:319487] +xref: GARD:8488 {source="Orphanet:319487"} xref: ICD10CM:C73 {source="Orphanet:319487/attributed", source="Orphanet:319487/ntbt", source="Orphanet:319487"} xref: NCIT:C118829 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:equivalentTo"} @@ -345953,8 +360280,10 @@ name: familial nonmedullary thyroid carcinoma def: "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." [Orphanet:319494] comment: Note the OMIM phenotypic series lacks a member classified by ORDO subset: disease_grouping +subset: gard_rare {source="GARD:21421"} subset: ordo_group_of_disorders {source="Orphanet:319494"} synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201] +xref: GARD:21421 {source="Orphanet:319494"} xref: ICD10CM:C73 {source="Orphanet:319494", source="Orphanet:319494/attributed", source="Orphanet:319494/ntbt"} xref: OMIMPS:188550 {source="MONDO:equivalentTo"} xref: Orphanet:319494 {source="MONDO:equivalentTo"} @@ -345971,9 +360300,11 @@ id: MONDO:0017897 name: obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency def: "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." [Orphanet:319535] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' +subset: gard_rare {source="GARD:21422"} subset: ordo_group_of_disorders {source="Orphanet:319535"} synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535] synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:21422 {source="MONDO:obsoleteEquivalent", source="Orphanet:319535"} xref: ICD10CM:D84.8 {source="Orphanet:319535/attributed", source="Orphanet:319535/ntbt", source="Orphanet:319535"} xref: Orphanet:319535 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203953 {source="MONDO:obsoleteEquivalent"} @@ -345987,9 +360318,11 @@ id: MONDO:0017898 name: obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency def: "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." [MONDO:patterns/autosomal_recessive] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' +subset: gard_rare {source="GARD:21423"} subset: ordo_group_of_disorders {source="Orphanet:319539"} synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:21423 {source="Orphanet:319539", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.8 {source="Orphanet:319539/attributed", source="Orphanet:319539/ntbt", source="Orphanet:319539"} xref: Orphanet:319539 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203954 {source="MONDO:obsoleteEquivalent"} @@ -346003,9 +360336,11 @@ id: MONDO:0017899 name: obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency def: "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." [Orphanet:319543] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' +subset: gard_rare {source="GARD:21424"} subset: ordo_group_of_disorders {source="Orphanet:319543"} synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:21424 {source="MONDO:obsoleteEquivalent", source="Orphanet:319543"} xref: ICD10CM:D84.8 {source="Orphanet:319543", source="Orphanet:319543/attributed", source="Orphanet:319543/ntbt"} xref: Orphanet:319543 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203955 {source="MONDO:obsoleteEquivalent"} @@ -346018,6 +360353,7 @@ consider: MONDO:0020573 id: MONDO:0017900 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency def: "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319547] +subset: gard_rare {source="GARD:17457"} subset: ordo_disease {source="Orphanet:319547"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2" EXACT [] @@ -346025,6 +360361,7 @@ synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial d synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] +xref: GARD:17457 {source="Orphanet:319547"} xref: ICD10CM:D84.8 {source="Orphanet:319547/attributed", source="Orphanet:319547/ntbt", source="Orphanet:319547"} xref: Orphanet:319547 {source="MONDO:equivalentTo"} xref: UMLS:CN203956 {source="MONDO:equivalentTo"} @@ -346035,6 +360372,7 @@ relationship: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt"} id: MONDO:0017901 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319569] +subset: gard_rare {source="GARD:17459"} subset: ordo_disease {source="Orphanet:319569"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT [] @@ -346042,6 +360380,7 @@ synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319569] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569] synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:17459 {source="Orphanet:319569"} xref: ICD10CM:D84.8 {source="Orphanet:319569/attributed", source="Orphanet:319569/ntbt", source="Orphanet:319569"} xref: Orphanet:319569 {source="MONDO:equivalentTo"} xref: UMLS:CN203960 {source="MONDO:equivalentTo"} @@ -346057,6 +360396,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017902 name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319574] +subset: gard_rare {source="GARD:17460"} subset: ordo_disease {source="Orphanet:319574"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT [] @@ -346064,6 +360404,7 @@ synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases synonym: "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319574] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574] synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:17460 {source="Orphanet:319574"} xref: ICD10CM:D84.8 {source="Orphanet:319574", source="Orphanet:319574/attributed", source="Orphanet:319574/ntbt"} xref: Orphanet:319574 {source="MONDO:equivalentTo"} xref: UMLS:CN203961 {source="MONDO:equivalentTo"} @@ -346078,6 +360419,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017903 name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency def: "A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319589] +subset: gard_rare {source="GARD:21425"} subset: ordo_disease {source="Orphanet:319589"} subset: predisposition synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT [] @@ -346085,6 +360427,7 @@ synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases synonym: "autosomal dominant MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319589] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589] synonym: "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:21425 {source="Orphanet:319589"} xref: ICD10CM:D84.8 {source="Orphanet:319589/attributed", source="Orphanet:319589/ntbt", source="Orphanet:319589"} xref: Orphanet:319589 {source="MONDO:equivalentTo"} xref: UMLS:CN203963 {source="MONDO:equivalentTo"} @@ -346095,10 +360438,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0017904 name: steroid dehydrogenase deficiency-dental anomalies syndrome def: "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." [Orphanet:3196] +subset: gard_rare {source="GARD:5015"} subset: ordo_disease {source="Orphanet:3196"} synonym: "Lyngstadaas syndrome" EXACT [Orphanet:3196] synonym: "severe dental aberrations in familial steroid dehydrogenase deficiency" RELATED [GARD:0005015] synonym: "steroid dehydrogenase deficiency dental anomalies" RELATED [GARD:0005015] +xref: GARD:5015 {source="Orphanet:3196"} xref: ICD10CM:K76.8 {source="Orphanet:3196/attributed", source="Orphanet:3196/ntbt", source="Orphanet:3196"} xref: MESH:C537490 {source="MONDO:equivalentTo"} xref: Orphanet:3196 {source="MONDO:equivalentTo"} @@ -346112,10 +360457,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source=" id: MONDO:0017905 name: X-linked Mendelian susceptibility to mycobacterial diseases def: "A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." [https://orcid.org/0000-0001-5208-3432, Orphanet:319605] +subset: gard_rare {source="GARD:17464"} subset: ordo_disease {source="Orphanet:319605"} subset: predisposition synonym: "mendelian susceptibility to mycobacterial diseases, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked MSMD" EXACT [Orphanet:319605] +xref: GARD:17464 {source="Orphanet:319605"} xref: ICD10CM:D84.8 {source="Orphanet:319605/attributed", source="Orphanet:319605/ntbt", source="Orphanet:319605"} xref: Orphanet:319605 {source="MONDO:equivalentTo"} xref: SCTID:719814009 {source="MONDO:equivalentTo"} @@ -346129,9 +360476,11 @@ intersection_of: has_characteristic HP:0001417 ! X-linked inheritance id: MONDO:0017906 name: amyloidosis cutis dyschromia def: "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." [Orphanet:319635] +subset: gard_rare {source="GARD:17466"} subset: ordo_disease {source="Orphanet:319635"} synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635] xref: DOID:0080932 {source="MONDO:equivalentTo"} +xref: GARD:17466 {source="Orphanet:319635"} xref: ICD10EXP:E85.4+ {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: ICD10EXP:L99.0* {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: Orphanet:319635 {source="MONDO:equivalentTo"} @@ -346141,6 +360490,7 @@ is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis id: MONDO:0017907 name: primary lymphoma of the conjunctiva def: "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." [Orphanet:319667] +subset: gard_rare {source="GARD:21426"} subset: ordo_disease {source="Orphanet:319667"} synonym: "conjunctiva lymphoma" EXACT [MONDO:patterns/location] synonym: "conjunctiva primary organ-specific lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -346148,6 +360498,7 @@ synonym: "lymphoma of conjunctiva" EXACT [] synonym: "primary lymphoid conjunctival tumor" EXACT [Orphanet:319667] synonym: "primary lymphoid conjunctival tumour" EXACT OMO:0003005 [] synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern] +xref: GARD:21426 {source="Orphanet:319667"} xref: Orphanet:319667 {source="MONDO:equivalentTo"} xref: SCTID:763477007 {source="MONDO:equivalentTo"} xref: UMLS:CN203974 {source="MONDO:equivalentTo"} @@ -346165,6 +360516,7 @@ replaced_by: MONDO:0017658 id: MONDO:0017909 name: inherited glutathione synthetase deficiency def: "Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." [Orphanet:32] +subset: gard_rare {source="GARD:10047"} subset: ordo_disease {source="Orphanet:32"} synonym: "5-oxoprolinuria" EXACT [NCIT:C128193] synonym: "glutathione synthetase deficiency" EXACT [NCIT:C128193] @@ -346177,6 +360529,7 @@ synonym: "pyroglutamic aciduria" EXACT [NCIT:C128193] synonym: "pyroglutamicaciduria" EXACT [Orphanet:32] synonym: "rare inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0080699 {source="MONDO:equivalentTo"} +xref: GARD:10047 {source="Orphanet:32"} xref: ICD10CM:D55.1 {source="Orphanet:32", source="Orphanet:32/attributed", source="Orphanet:32/ntbt"} xref: MESH:C536835 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e"} xref: NCIT:C128193 {source="MONDO:equivalentTo"} @@ -346196,12 +360549,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017910 name: dehydrated hereditary stomatocytosis def: "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." [Orphanet:3202] -subset: gard_rare +subset: gard_rare {source="GARD:5623"} subset: ordo_disease {source="Orphanet:3202"} synonym: "Desiccytosis hereditary" RELATED [GARD:0005623] synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202] synonym: "xerocytosis hereditary" RELATED [GARD:0005623] xref: DOID:0111575 {source="MONDO:equivalentTo"} +xref: GARD:5623 {source="Orphanet:3202"} xref: ICD10CM:D58.8 {source="Orphanet:3202", source="Orphanet:3202/attributed", source="Orphanet:3202/ntbt"} xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"} xref: SCTID:715526002 {source="MONDO:equivalentTo"} @@ -346217,6 +360571,8 @@ replaced_by: MONDO:0009151 [Term] id: MONDO:0017912 name: obsolete X-linked pure spastic paraplegia +subset: gard_rare {source="GARD:21428"} +xref: GARD:21428 {source="Orphanet:320332", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320332", source="Orphanet:320332/attributed", source="Orphanet:320332/ntbt"} xref: Orphanet:320332 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346229,10 +360585,12 @@ is_obsolete: true id: MONDO:0017913 name: pure or complex hereditary spastic paraplegia subset: disease_grouping +subset: gard_rare {source="GARD:21429"} subset: ordo_group_of_disorders {source="Orphanet:320335"} synonym: "Pure or complex familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated hereditary spastic paraplegia" EXACT [Orphanet:320335] +xref: GARD:21429 {source="Orphanet:320335"} xref: ICD10CM:G11.4 {source="Orphanet:320335", source="Orphanet:320335/attributed", source="Orphanet:320335/ntbt"} xref: Orphanet:320335 {source="MONDO:equivalentTo"} xref: UMLS:CN227219 {source="MONDO:equivalentTo"} @@ -346241,7 +360599,9 @@ is_a: MONDO:0019064 {source="Orphanet:320335"} ! hereditary spastic paraplegia [Term] id: MONDO:0017914 name: obsolete pure or complex autosomal dominant spastic paraplegia +subset: gard_rare {source="GARD:21430"} synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342] +xref: GARD:21430 {source="Orphanet:320342", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320342/attributed", source="Orphanet:320342/ntbt", source="Orphanet:320342"} xref: Orphanet:320342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346253,7 +360613,9 @@ is_obsolete: true [Term] id: MONDO:0017915 name: obsolete pure or complex autosomal recessive spastic paraplegia +subset: gard_rare {source="GARD:21431"} synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346] +xref: GARD:21431 {source="MONDO:obsoleteEquivalent", source="Orphanet:320346"} xref: ICD10CM:G11.4 {source="Orphanet:320346", source="Orphanet:320346/attributed", source="Orphanet:320346/ntbt"} xref: Orphanet:320346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346265,7 +360627,9 @@ is_obsolete: true [Term] id: MONDO:0017916 name: obsolete pure or complex X-linked spastic paraplegia +subset: gard_rare {source="GARD:21432"} synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350] +xref: GARD:21432 {source="MONDO:obsoleteEquivalent", source="Orphanet:320350"} xref: ICD10CM:G11.4 {source="Orphanet:320350/attributed", source="Orphanet:320350/ntbt", source="Orphanet:320350"} xref: Orphanet:320350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346278,9 +360642,11 @@ is_obsolete: true id: MONDO:0017917 name: maternally-inherited spastic paraplegia def: "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." [Orphanet:320360] +subset: gard_rare {source="GARD:21433"} subset: ordo_disease {source="Orphanet:320360"} synonym: "maternally-inherited SPG" EXACT [Orphanet:320360] synonym: "MT-ATP6-related mitochondrial spastic paraplegia" EXACT [https://orcid.org/0000-0001-6330-7526, Orphanet:320360] +xref: GARD:21433 {source="Orphanet:320360"} xref: ICD10CM:G11.4 {source="Orphanet:320360/attributed", source="Orphanet:320360/ntbt", source="Orphanet:320360"} xref: Orphanet:320360 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic paraplegia @@ -346289,11 +360655,12 @@ is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic para id: MONDO:0017918 name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome def: "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." [https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome] -subset: gard_rare {source="GARD:0005560"} +subset: gard_rare {source="GARD:5560"} subset: ordo_malformation_syndrome {source="Orphanet:3207"} synonym: "Curatolo Cilio Pessagno syndrome" RELATED [GARD:0005560] synonym: "Curatolo-Cilio-Pessagno syndrome" EXACT [Orphanet:3207] synonym: "familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency" RELATED [GARD:0005560] +xref: GARD:5560 {source="Orphanet:3207"} xref: MESH:C536701 {source="MONDO:equivalentTo"} xref: Orphanet:3207 {source="MONDO:equivalentTo"} xref: UMLS:C2931292 {source="MONDO:equivalentTo", source="Orphanet:3207"} @@ -346307,6 +360674,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5560/white-m id: MONDO:0017919 name: exstrophy-epispadias complex def: "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." [Orphanet:322] +subset: gard_rare {source="GARD:2207"} subset: ordo_malformation_syndrome {source="Orphanet:322"} synonym: "BEEC" NARROW ABBREVIATION [Orphanet:322] synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" NARROW [Orphanet:322] @@ -346314,6 +360682,7 @@ synonym: "EEC" EXACT ABBREVIATION [Orphanet:322] synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issues/3650] synonym: "OEIS syndrome" EXACT [NCIT:C99142] xref: DOID:0080173 {source="MONDO:equivalentTo"} +xref: GARD:2207 {source="Orphanet:322"} xref: ICD10CM:Q64.1 {source="Orphanet:322/attributed", source="Orphanet:322/ntbt", source="Orphanet:322"} xref: NCIT:C99142 {source="MONDO:equivalentTo"} xref: OMIM:258040 {source="DOID:0080173", source="MONDO:equivalentTo", source="Orphanet:322/btnt", source="Orphanet:322"} @@ -346334,12 +360703,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017920 name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome def: "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." [Orphanet:3224] +subset: gard_rare {source="GARD:4303"} subset: ordo_malformation_syndrome {source="Orphanet:3224"} synonym: "Pfeiffer Kapferer syndrome" RELATED [GARD:0004303] synonym: "Pfeiffer-Kapferer syndrome" EXACT [Orphanet:3224] synonym: "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5" RELATED [GARD:0004303] synonym: "short stature, intellectual disability and multiple dysmorphisms" RELATED [GARD:0004303] synonym: "short stature, mental retardation and multiple dysmorphisms" RELATED DEPRECATED [GARD:0004303] +xref: GARD:4303 {source="Orphanet:3224"} xref: ICD10CM:Q87.8 {source="Orphanet:3224", source="Orphanet:3224/attributed", source="Orphanet:3224/ntbt"} xref: MESH:C537887 {source="MONDO:equivalentTo"} xref: Orphanet:3224 {source="MONDO:equivalentTo"} @@ -346356,11 +360727,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017921 name: hearing loss-familial salivary gland insensitivity to aldosterone syndrome def: "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." [Orphanet:3225] +subset: gard_rare {source="GARD:18788"} subset: ordo_malformation_syndrome {source="Orphanet:3225"} synonym: "hearing loss and familial salivary gland insensitivity to aldosterone" RELATED [GARD:0000422] synonym: "hearing loss insensitivity to aldosterone" RELATED [GARD:0000422] synonym: "Tungland-Bellman syndrome" EXACT [Orphanet:3225] synonym: "Tunglang savage Bellman syndrome" RELATED [GARD:0000422] +xref: GARD:18788 {source="Orphanet:3225"} xref: MESH:C536927 {source="MONDO:equivalentTo"} xref: Orphanet:3225 {source="MONDO:equivalentTo"} xref: SCTID:716239006 {source="MONDO:equivalentTo"} @@ -346371,6 +360744,8 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0017922 name: obsolete deafness-onychodystrophy syndrome def: "OBSOLETE. Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231] +subset: gard_rare {source="GARD:16624"} +xref: GARD:16624 {source="MONDO:obsoleteEquivalent", source="Orphanet:3231"} xref: ICD10CM:Q87.8 {source="Orphanet:3231/attributed", source="Orphanet:3231/ntbt", source="Orphanet:3231"} xref: Orphanet:3231 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204041 {source="MONDO:obsoleteEquivalent"} @@ -346386,12 +360761,14 @@ is_obsolete: true id: MONDO:0017923 name: multiple synostoses syndrome def: "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." [Orphanet:3237] +subset: gard_rare {source="GARD:3836"} subset: ordo_malformation_syndrome {source="Orphanet:3237"} synonym: "deafness-Hermann type symphalangism syndrome" EXACT [Orphanet:3237] synonym: "facio-audio-symphalangism" EXACT [Orphanet:3237] synonym: "symphalangism-brachydactyly syndrome" EXACT [Orphanet:3237] synonym: "WL syndrome" EXACT [Orphanet:3237] xref: DOID:0050794 {source="MONDO:equivalentTo"} +xref: GARD:3836 {source="Orphanet:3237"} xref: ICD10CM:Q78.8 {source="Orphanet:3237/attributed", source="Orphanet:3237/ntbt", source="Orphanet:3237"} xref: OMIMPS:186500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="MONDO:equivalentTo"} @@ -346410,8 +360787,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017924 name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome def: "This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." [Orphanet:3240] +subset: gard_rare {source="GARD:18789"} subset: ordo_disease {source="Orphanet:3240"} synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240] +xref: GARD:18789 {source="Orphanet:3240"} xref: Orphanet:3240 {source="MONDO:equivalentTo"} xref: UMLS:CN204056 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -346423,8 +360802,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017925 name: T-cell immunodeficiency with epidermodysplasia verruciformis def: "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." [Orphanet:324294] +subset: gard_rare {source="GARD:17483"} subset: ordo_disease {source="Orphanet:324294"} synonym: "T-cell immunodeficiency due to RHOH deficiency" EXACT [Orphanet:324294] +xref: GARD:17483 {source="Orphanet:324294"} xref: ICD10CM:D84.8 {source="Orphanet:324294/attributed", source="Orphanet:324294/ntbt", source="Orphanet:324294"} xref: Orphanet:324294 {source="MONDO:equivalentTo"} xref: UMLS:CN714013 {source="MONDO:equivalentTo"} @@ -346437,9 +360818,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017926 name: multiple paragangliomas associated with polycythemia +subset: gard_rare {source="GARD:21435"} subset: ordo_clinical_subtype {source="Orphanet:324299"} synonym: "multiple paragangliomas associated with erythrocytosis" EXACT [Orphanet:324299] synonym: "paraganglioma-somatostatinoma-polycythemia syndrome" EXACT [Orphanet:324299] +xref: GARD:21435 {source="Orphanet:324299"} xref: Orphanet:324299 {source="MONDO:equivalentTo"} xref: UMLS:CN204064 {source="MONDO:equivalentTo"} is_a: MONDO:0017190 {source="Orphanet:324299"} ! sporadic pheochromocytoma/secreting paraganglioma @@ -346448,7 +360831,9 @@ is_a: MONDO:0017190 {source="Orphanet:324299"} ! sporadic pheochromocytoma/secre id: MONDO:0017927 name: severe lateral tibial bowing with short stature def: "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." [Orphanet:324307] +subset: gard_rare {source="GARD:21436"} subset: ordo_disease {source="Orphanet:324307"} +xref: GARD:21436 {source="Orphanet:324307"} xref: ICD10CM:Q68.4 {source="Orphanet:324307", source="Orphanet:324307/attributed", source="Orphanet:324307/ntbt"} xref: Orphanet:324307 {source="MONDO:equivalentTo"} xref: SCTID:766819001 {source="MONDO:equivalentTo"} @@ -346459,9 +360844,11 @@ is_a: MONDO:0019698 {source="Orphanet:324307"} ! bent bone dysplasia id: MONDO:0017928 name: 9p13 microdeletion syndrome def: "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." [Orphanet:324313] +subset: gard_rare {source="GARD:21437"} subset: ordo_malformation_syndrome {source="Orphanet:324313"} synonym: "Del(9)(p13)" EXACT [Orphanet:324313] synonym: "monosomy 9p13" EXACT [Orphanet:324313] +xref: GARD:21437 {source="Orphanet:324313"} xref: ICD10CM:Q93.5 {source="Orphanet:324313/attributed", source="Orphanet:324313/ntbt", source="Orphanet:324313"} xref: Orphanet:324313 {source="MONDO:equivalentTo"} xref: SCTID:764725008 {source="MONDO:equivalentTo"} @@ -346477,7 +360864,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017929 name: congenital achiasma def: "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." [Orphanet:324353] +subset: gard_rare {source="GARD:21438"} subset: ordo_morphological_anomaly {source="Orphanet:324353"} +xref: GARD:21438 {source="Orphanet:324353"} xref: ICD10CM:H47.4 {source="MONDO:relatedTo", source="Orphanet:324353/attributed", source="Orphanet:324353/ntbt", source="Orphanet:324353"} xref: Orphanet:324353 {source="MONDO:equivalentTo"} xref: SCTID:734031008 {source="MONDO:equivalentTo"} @@ -346490,7 +360879,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017930 name: mixed sclerosing bone dystrophy with extra-skeletal manifestations +subset: gard_rare {source="GARD:21439"} subset: ordo_disease {source="Orphanet:324364"} +xref: GARD:21439 {source="Orphanet:324364"} xref: ICD10CM:M85.8 {source="Orphanet:324364/attributed", source="Orphanet:324364/ntbt", source="Orphanet:324364"} xref: Orphanet:324364 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:324364"} ! bone disorder @@ -346501,8 +360892,10 @@ relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:324364"} ! obs id: MONDO:0017931 name: hereditary inclusion body myopathy type 4 def: "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." [Orphanet:324381] +subset: gard_rare {source="GARD:21440"} subset: ordo_disease {source="Orphanet:324381"} synonym: "HIBM4" EXACT ABBREVIATION [Orphanet:324381] +xref: GARD:21440 {source="Orphanet:324381"} xref: ICD10CM:G71.8 {source="Orphanet:324381", source="Orphanet:324381/attributed", source="Orphanet:324381/ntbt"} xref: Orphanet:324381 {source="MONDO:equivalentTo"} xref: UMLS:CN227223 {source="MONDO:equivalentTo"} @@ -346511,7 +360904,9 @@ is_a: MONDO:0016112 {source="Orphanet:324381"} ! hereditary inclusion-body myopa [Term] id: MONDO:0017932 name: muscular hypertrophy-hepatomegaly-polyhydramnios syndrome +subset: gard_rare {source="GARD:21441"} subset: ordo_malformation_syndrome {source="Orphanet:324416"} +xref: GARD:21441 {source="Orphanet:324416"} xref: Orphanet:324416 {source="MONDO:equivalentTo"} xref: UMLS:CN204070 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:324416"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -346520,8 +360915,10 @@ is_a: MONDO:0015159 {source="Orphanet:324416"} ! multiple congenital anomalies/d id: MONDO:0017933 name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation def: "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." [Orphanet:324525] +subset: gard_rare {source="GARD:21442"} subset: ordo_disease {source="Orphanet:324525"} synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525] +xref: GARD:21442 {source="Orphanet:324525"} xref: ICD10CM:I42.2 {source="Orphanet:324525/attributed", source="Orphanet:324525/ntbt", source="Orphanet:324525"} xref: Orphanet:324525 {source="MONDO:equivalentTo"} xref: UMLS:CN204073 {source="MONDO:equivalentTo"} @@ -346532,9 +360929,11 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0017934 name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome def: "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." [Orphanet:324540] +subset: gard_rare {source="GARD:21443"} subset: ordo_malformation_syndrome {source="Orphanet:324540"} synonym: "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] synonym: "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] +xref: GARD:21443 {source="Orphanet:324540"} xref: ICD10CM:Q87.0 {source="Orphanet:324540/attributed", source="Orphanet:324540/ntbt", source="Orphanet:324540"} xref: Orphanet:324540 {source="MONDO:equivalentTo"} xref: UMLS:CN204076 {source="MONDO:equivalentTo"} @@ -346547,8 +360946,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017935 name: hyperinsulinism due to HNF1A deficiency def: "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." [Orphanet:324575] +subset: gard_rare {source="GARD:21444"} subset: ordo_disease {source="Orphanet:324575"} synonym: "hyperinsulinemic hypoglycemia due to HNF1A deficiency" EXACT [Orphanet:324575] +xref: GARD:21444 {source="Orphanet:324575"} xref: ICD10CM:E16.1 {source="Orphanet:324575", source="Orphanet:324575/attributed", source="Orphanet:324575/ntbt"} xref: Orphanet:324575 {source="MONDO:equivalentTo"} xref: SCTID:721234004 {source="MONDO:equivalentTo"} @@ -346559,7 +360960,9 @@ is_a: MONDO:0015624 {source="Orphanet:324575"} ! diazoxide-sensitive diffuse hyp id: MONDO:0017936 name: benign Samaritan congenital myopathy def: "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." [Orphanet:324581] +subset: gard_rare {source="GARD:21445"} subset: ordo_disease {source="Orphanet:324581"} +xref: GARD:21445 {source="Orphanet:324581"} xref: ICD10CM:G71.2 {source="Orphanet:324581", source="Orphanet:324581/attributed", source="Orphanet:324581/ntbt"} xref: Orphanet:324581 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy @@ -346567,7 +360970,9 @@ is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy [Term] id: MONDO:0017937 name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain +subset: gard_rare {source="GARD:21446"} subset: ordo_disease {source="Orphanet:324585"} +xref: GARD:21446 {source="Orphanet:324585"} xref: ICD10CM:G60.0 {source="Orphanet:324585/attributed", source="Orphanet:324585/ntbt", source="Orphanet:324585"} xref: Orphanet:324585 {source="MONDO:equivalentTo"} xref: UMLS:CN204081 {source="MONDO:equivalentTo"} @@ -346584,11 +360989,13 @@ replaced_by: MONDO:0010560 [Term] id: MONDO:0017939 name: classic multiminicore myopathy +subset: gard_rare {source="GARD:13661"} subset: ordo_clinical_subtype {source="Orphanet:324604"} synonym: "classic MmD" BROAD [Orphanet:324604] synonym: "classic multiminicore disease" BROAD [Orphanet:324604] synonym: "classic multiminicore myopathy" EXACT [Orphanet:324604] synonym: "minicore myopathy" RELATED [HP:0003789] +xref: GARD:13661 {source="Orphanet:324604"} xref: HP:0003789 {source="MONDO:otherHierarchy"} xref: ICD10CM:G71.2 {source="Orphanet:324604", source="Orphanet:324604/attributed", source="Orphanet:324604/ntbt"} xref: Orphanet:324604 {source="MONDO:equivalentTo"} @@ -346602,8 +361009,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017940 name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation def: "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." [Orphanet:324611] +subset: gard_rare {source="GARD:21447"} subset: ordo_disease {source="Orphanet:324611"} synonym: "CMT2 due to KIF5A mutation" EXACT [Orphanet:324611] +xref: GARD:21447 {source="Orphanet:324611"} xref: ICD10CM:G60.0 {source="Orphanet:324611", source="Orphanet:324611/attributed", source="Orphanet:324611/ntbt"} xref: Orphanet:324611 {source="MONDO:equivalentTo"} xref: SCTID:764730007 {source="MONDO:equivalentTo"} @@ -346616,7 +361025,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0017941 name: chikungunya def: "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." [NCIT:C128422] -subset: gard_rare {source="GARD:0006038"} +subset: gard_rare {source="GARD:6038"} subset: ordo_disease {source="Orphanet:324625"} synonym: "arbovirus A Chikungunya type" RELATED [GARD:0006038] synonym: "CHIK" RELATED ABBREVIATION [GARD:0006038] @@ -346628,6 +361037,7 @@ synonym: "Chikungunya virus infectious disease" EXACT [] synonym: "CHIKV infection" RELATED [GARD:0006038] synonym: "CK" RELATED ABBREVIATION [GARD:0006038] xref: DOID:0050012 {source="MONDO:equivalentTo"} +xref: GARD:6038 {source="Orphanet:324625"} xref: ICD10CM:A92.0 {source="Orphanet:324625", source="Orphanet:324625/e"} xref: MESH:D065632 {source="MONDO:equivalentTo"} xref: NCIT:C128422 {source="MONDO:equivalentTo"} @@ -346648,10 +361058,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6038/chikung id: MONDO:0017942 name: Hendra virus infection def: "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported." [Orphanet:324632] +subset: gard_rare {source="GARD:21448"} subset: ordo_disease {source="Orphanet:324632"} synonym: "Hendra henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hendra henipavirus disease or disorder" EXACT [] synonym: "Hendra henipavirus infectious disease" EXACT [] +xref: GARD:21448 {source="Orphanet:324632"} xref: ICD10CM:B33.8 {source="Orphanet:324632/ntbt", source="Orphanet:324632"} xref: Orphanet:324632 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="Orphanet:324632"} ! infectious encephalitis @@ -346661,6 +361073,7 @@ intersection_of: MONDO:0100332 NCBITaxon:63330 ! disease has primary infectious [Term] id: MONDO:0017943 name: autoerythrocyte sensitization syndrome +subset: gard_rare {source="GARD:6481"} subset: ordo_disease {source="Orphanet:324636"} synonym: "Autoerythrocyte sensitization" RELATED [GARD:0006481] synonym: "Autoerythrocyte sensitization purpura" RELATED [GARD:0006481] @@ -346668,6 +361081,7 @@ synonym: "Gardner-Diamond syndrome" EXACT [Orphanet:324636] synonym: "GDS" EXACT ABBREVIATION [Orphanet:324636] synonym: "painful bruising syndrome" EXACT [Orphanet:324636] synonym: "psychogenic purpura" EXACT [Orphanet:324636] +xref: GARD:6481 {source="Orphanet:324636"} xref: ICD10CM:D69.2 {source="Orphanet:324636", source="Orphanet:324636/ntbt"} xref: ICD9:287.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535645 {source="MONDO:equivalentTo"} @@ -346680,9 +361094,11 @@ is_a: MONDO:0007179 {source="Orphanet:324636"} ! autoimmune disease id: MONDO:0017944 name: invasive non-typhoidal salmonellosis def: "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed." [Orphanet:324648] +subset: gard_rare {source="GARD:21449"} subset: ordo_disease {source="Orphanet:324648"} synonym: "iNTS disease" EXACT [Orphanet:324648] synonym: "invasive non-typhoidal salmonella disease" EXACT [Orphanet:324648] +xref: GARD:21449 {source="Orphanet:324648"} xref: ICD10CM:A02.0 {source="Orphanet:324648", source="Orphanet:324648/btnt"} xref: ICD10CM:A02.1 {source="Orphanet:324648", source="Orphanet:324648/btnt"} xref: ICD10CM:A02.2 {source="Orphanet:324648", source="Orphanet:324648/btnt"} @@ -346696,12 +361112,14 @@ is_a: MONDO:0000827 {source="Orphanet:324648"} ! salmonellosis id: MONDO:0017945 name: ABetaL34V amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." [Orphanet:324703] +subset: gard_rare {source="GARD:17489"} subset: ordo_clinical_subtype {source="Orphanet:324703"} synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703] synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703] synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703] synonym: "hereditary cerebral haemorrhage with amyloidosis, Piedmont type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703] +xref: GARD:17489 {source="Orphanet:324703"} xref: ICD10EXP:E85.4+ {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} xref: Orphanet:324703 {source="MONDO:equivalentTo"} @@ -346712,12 +361130,14 @@ property_value: confidence "0.5" xsd:double id: MONDO:0017946 name: ABeta amyloidosis, Iowa type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." [Orphanet:324708] +subset: gard_rare {source="GARD:17490"} subset: ordo_clinical_subtype {source="Orphanet:324708"} synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708] synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708] synonym: "hereditary cerebral haemorrhage with amyloidosis, Iowa type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708] +xref: GARD:17490 {source="Orphanet:324708"} xref: ICD10EXP:E85.4+ {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: ICD10EXP:I68.0* {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: Orphanet:324708 {source="MONDO:equivalentTo"} @@ -346728,12 +361148,14 @@ property_value: confidence "0.5" xsd:double id: MONDO:0017947 name: ABeta amyloidosis, Italian type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." [Orphanet:324713] +subset: gard_rare {source="GARD:17491"} subset: ordo_clinical_subtype {source="Orphanet:324713"} synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713] synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Italian type" EXACT [Orphanet:324713] synonym: "hereditary cerebral haemorrhage with amyloidosis, Italian type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713] +xref: GARD:17491 {source="Orphanet:324713"} xref: ICD10EXP:E85.4+ {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} xref: Orphanet:324713 {source="MONDO:equivalentTo"} @@ -346744,6 +361166,7 @@ property_value: confidence "0.5" xsd:double id: MONDO:0017948 name: ABetaA21G amyloidosis def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." [Orphanet:324718] +subset: gard_rare {source="GARD:17492"} subset: ordo_clinical_subtype {source="Orphanet:324718"} synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718] synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718] @@ -346751,6 +361174,7 @@ synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718] synonym: "hereditary cerebral haemorrhage with amyloidosis, Flemish type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718] +xref: GARD:17492 {source="Orphanet:324718"} xref: ICD10EXP:E85.4+ {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} xref: Orphanet:324718 {source="MONDO:equivalentTo"} @@ -346761,12 +361185,14 @@ property_value: confidence "0.5" xsd:double id: MONDO:0017949 name: ABeta amyloidosis, Arctic type def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." [Orphanet:324723] +subset: gard_rare {source="GARD:17493"} subset: ordo_clinical_subtype {source="Orphanet:324723"} synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723] synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028] synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723] synonym: "hereditary cerebral haemorrhage with amyloidosis, Arctic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723] +xref: GARD:17493 {source="Orphanet:324723"} xref: ICD10EXP:E85.4+ {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: ICD10EXP:I68.0* {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: Orphanet:324723 {source="MONDO:equivalentTo"} @@ -346776,6 +361202,8 @@ property_value: confidence "0.5" xsd:double [Term] id: MONDO:0017950 name: obsolete microcephalic primordial dwarfism +subset: gard_rare {source="GARD:21450"} +xref: GARD:21450 {source="MONDO:obsoleteEquivalent", source="Orphanet:324761"} xref: ICD10CM:Q87.1 {source="Orphanet:324761/attributed", source="Orphanet:324761/ntbt", source="Orphanet:324761"} xref: Orphanet:324761 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN437676 {source="MONDO:obsoleteEquivalent"} @@ -346792,8 +361220,10 @@ is_obsolete: true id: MONDO:0017951 name: trichorhinophalangeal syndrome subset: disease_grouping +subset: gard_rare {source="GARD:21451"} subset: ordo_group_of_disorders {source="Orphanet:324764"} synonym: "TRPS" EXACT ABBREVIATION [MONDO:Lexical] +xref: GARD:21451 {source="Orphanet:324764"} xref: ICD10CM:Q87.8 {source="Orphanet:324764/attributed", source="Orphanet:324764/ntbt", source="Orphanet:324764"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:190350 {source="MONDO:equivalentTo"} @@ -346808,7 +361238,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:190350"} ! inheri id: MONDO:0017952 name: obsolete non-familial rare disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disease or disorder' +subset: gard_rare {source="GARD:21452"} subset: ordo_group_of_disorders {source="Orphanet:324767"} +xref: GARD:21452 {source="MONDO:obsoleteEquivalent", source="Orphanet:324767"} xref: Orphanet:324767 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204097 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -346821,8 +361253,10 @@ id: MONDO:0017953 name: hereditary periodic fever syndrome def: "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21453"} subset: ordo_group_of_disorders {source="Orphanet:324924"} synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary] +xref: GARD:21453 {source="Orphanet:324924"} xref: ICD10CM:E85.0 {source="Orphanet:324924", source="Orphanet:324924/attributed", source="Orphanet:324924/ntbt"} xref: MESH:D056660 {source="MONDO:equivalentTo"} xref: Orphanet:324924 {source="MONDO:equivalentTo"} @@ -346834,6 +361268,8 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0017954 name: obsolete pyogenic autoinflammatory syndrome +subset: gard_rare {source="GARD:21454"} +xref: GARD:21454 {source="MONDO:obsoleteEquivalent", source="Orphanet:324927"} xref: Orphanet:324927 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204100 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346845,6 +361281,8 @@ is_obsolete: true [Term] id: MONDO:0017955 name: obsolete granulomatous autoinflammatory syndrome +subset: gard_rare {source="GARD:21455"} +xref: GARD:21455 {source="Orphanet:324930", source="MONDO:obsoleteEquivalent"} xref: Orphanet:324930 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204101 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346857,7 +361295,9 @@ is_obsolete: true id: MONDO:0017956 name: obsolete mixed autoinflammatory and autoimmune syndrome comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' +subset: gard_rare {source="GARD:21456"} subset: ordo_group_of_disorders {source="Orphanet:324933"} +xref: GARD:21456 {source="MONDO:obsoleteEquivalent", source="Orphanet:324933"} xref: Orphanet:324933 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204102 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -346869,7 +361309,9 @@ consider: MONDO:0019751 id: MONDO:0017957 name: obsolete unclassified autoinflammatory syndrome subset: disease_grouping +subset: gard_rare {source="GARD:21457"} subset: ordo_group_of_disorders {source="Orphanet:324936"} +xref: GARD:21457 {source="MONDO:obsoleteEquivalent", source="Orphanet:324936"} xref: Orphanet:324936 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204103 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -346880,8 +361322,10 @@ consider: MONDO:0019751 [Term] id: MONDO:0017958 name: magic syndrome +subset: gard_rare {source="GARD:13371"} subset: ordo_disease {source="Orphanet:324972"} synonym: "mouth and genital ulcers with inflamed cartilage" EXACT [Orphanet:324972] +xref: GARD:13371 {source="Orphanet:324972"} xref: Orphanet:324972 {source="MONDO:equivalentTo"} xref: UMLS:CN204105 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome @@ -346902,6 +361346,8 @@ replaced_by: MONDO:0009726 [Term] id: MONDO:0017961 name: obsolete 46,XX disorder of gonadal development +subset: gard_rare {source="GARD:21463"} +xref: GARD:21463 {source="MONDO:obsoleteEquivalent", source="Orphanet:325055"} xref: Orphanet:325055 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227225 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346914,7 +361360,9 @@ is_obsolete: true [Term] id: MONDO:0017962 name: obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess +subset: gard_rare {source="GARD:21464"} synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061] +xref: GARD:21464 {source="MONDO:obsoleteEquivalent", source="Orphanet:325061"} xref: Orphanet:325061 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227226 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346927,7 +361375,9 @@ is_obsolete: true [Term] id: MONDO:0017963 name: obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen +subset: gard_rare {source="GARD:21465"} synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093] +xref: GARD:21465 {source="MONDO:obsoleteEquivalent", source="Orphanet:325093"} xref: ICD10CM:Q56.2 {source="Orphanet:325093", source="Orphanet:325093/ntbt"} xref: Orphanet:325093 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227227 {source="MONDO:obsoleteEquivalent"} @@ -346941,7 +361391,9 @@ is_obsolete: true [Term] id: MONDO:0017964 name: obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen +subset: gard_rare {source="GARD:21466"} synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099] +xref: GARD:21466 {source="MONDO:obsoleteEquivalent", source="Orphanet:325099"} xref: ICD10CM:Q56.2 {source="Orphanet:325099/ntbt", source="Orphanet:325099"} xref: Orphanet:325099 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227228 {source="MONDO:obsoleteEquivalent"} @@ -346956,8 +361408,10 @@ is_obsolete: true id: MONDO:0017965 name: obsolete syndrome with 46,XX disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21467"} subset: ordo_group_of_disorders {source="Orphanet:325109"} synonym: "syndrome with 46,XX DSD" EXACT [Orphanet:325109] +xref: GARD:21467 {source="MONDO:obsoleteEquivalent", source="Orphanet:325109"} xref: Orphanet:325109 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204115 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -346968,6 +361422,8 @@ consider: MONDO:0002254 [Term] id: MONDO:0017966 name: obsolete 46,XY disorder of gonadal development +subset: gard_rare {source="GARD:21468"} +xref: GARD:21468 {source="MONDO:obsoleteEquivalent", source="Orphanet:325118"} xref: Orphanet:325118 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227229 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -346980,12 +361436,14 @@ is_obsolete: true [Term] id: MONDO:0017967 name: testicular agenesis +subset: gard_rare {source="GARD:5819"} subset: ordo_morphological_anomaly {source="Orphanet:325124"} synonym: "absence of testes" RELATED [GARD:0005819] synonym: "anorchia" RELATED [GARD:0005819] synonym: "bilateral anorchia" EXACT [Orphanet:325124] synonym: "congenital absence of testes" RELATED [GARD:0005819] synonym: "empty scrotum" RELATED [GARD:0005819] +xref: GARD:5819 {source="Orphanet:325124"} xref: ICD10CM:Q55.0 {source="Orphanet:325124/attributed", source="Orphanet:325124/ntbt", source="Orphanet:325124"} xref: Orphanet:325124 {source="MONDO:equivalentTo"} xref: SCTID:371015003 {source="MONDO:equivalentTo"} @@ -347002,8 +361460,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017968 name: 46,XY ovotesticular disorder of sex development def: "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated." [Orphanet:325345] +subset: gard_rare {source="GARD:21469"} subset: ordo_disease {source="Orphanet:325345"} synonym: "46,XY ovotesticular DSD" EXACT [Orphanet:325345] +xref: GARD:21469 {source="Orphanet:325345"} xref: Orphanet:325345 {source="MONDO:equivalentTo"} xref: SCTID:763683004 {source="MONDO:equivalentTo"} xref: UMLS:CN227231 {source="MONDO:equivalentTo"} @@ -347018,7 +361478,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017969 name: obsolete 46,XY disorder of sex development of endocrine origin +subset: gard_rare {source="GARD:21470"} synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351] +xref: GARD:21470 {source="MONDO:obsoleteEquivalent", source="Orphanet:325351"} xref: Orphanet:325351 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227232 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -347032,8 +361494,10 @@ is_obsolete: true id: MONDO:0017970 name: obsolete 46,XY disorder of sex development due to impaired androgen production comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:21471"} subset: ordo_group_of_disorders {source="Orphanet:325357"} synonym: "46,XY DSD due to impaired androgen production" EXACT [Orphanet:325357] +xref: GARD:21471 {source="Orphanet:325357", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325357 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227233 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -347045,8 +361509,10 @@ consider: MONDO:0017969 id: MONDO:0017971 name: obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:21472"} subset: ordo_group_of_disorders {source="Orphanet:325511"} synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [Orphanet:325511] +xref: GARD:21472 {source="Orphanet:325511", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325511 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227234 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -347057,8 +361523,10 @@ consider: MONDO:0017969 [Term] id: MONDO:0017972 name: classic congenital lipoid adrenal hyperplasia due to STAR deficency +subset: gard_rare {source="GARD:21473"} subset: ordo_clinical_subtype {source="Orphanet:325524"} synonym: "classic CLAH" EXACT [Orphanet:325524] +xref: GARD:21473 {source="Orphanet:325524"} xref: ICD10CM:E25.0 {source="Orphanet:325524", source="Orphanet:325524/attributed", source="Orphanet:325524/ntbt"} xref: Orphanet:325524 {source="MONDO:equivalentTo"} is_a: MONDO:0008725 {source="Orphanet:325524"} ! congenital lipoid adrenal hyperplasia due to STAR deficency @@ -347068,7 +361536,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017973 name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency +subset: gard_rare {source="GARD:21474"} subset: ordo_clinical_subtype {source="Orphanet:325529"} +xref: GARD:21474 {source="Orphanet:325529"} xref: ICD10CM:E25.0 {source="Orphanet:325529", source="Orphanet:325529/attributed", source="Orphanet:325529/ntbt"} xref: Orphanet:325529 {source="MONDO:equivalentTo"} is_a: MONDO:0008725 {source="Orphanet:325529"} ! congenital lipoid adrenal hyperplasia due to STAR deficency @@ -347078,7 +361548,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017974 name: obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors +subset: gard_rare {source="GARD:21475"} synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [Orphanet:325537] +xref: GARD:21475 {source="MONDO:obsoleteEquivalent", source="Orphanet:325537"} xref: Orphanet:325537 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -347093,8 +361565,10 @@ id: MONDO:0017975 name: sex chromosome disorder of sex development def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." [MESH:D058533] subset: disease_grouping +subset: gard_rare {source="GARD:21476"} subset: ordo_group_of_disorders {source="Orphanet:325546"} synonym: "Sex chromosome DSD" EXACT [Orphanet:325546] +xref: GARD:21476 {source="Orphanet:325546"} xref: MESH:D058533 {source="MONDO:equivalentTo"} xref: Orphanet:325546 {source="MONDO:equivalentTo"} xref: UMLS:C2936421 {source="Orphanet:325546", source="MONDO:notFoundInDiseaseSubset"} @@ -347107,7 +361581,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source=" id: MONDO:0017976 name: obsolete disorder of sex development of gynecological interest comment: These terms are not used clinically. +subset: gard_rare {source="GARD:21477"} synonym: "DSD of gynecological interest" EXACT [Orphanet:325620] +xref: GARD:21477 {source="Orphanet:325620", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325620 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227237 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -347118,7 +361594,9 @@ consider: MONDO:0002145 id: MONDO:0017977 name: obsolete 46,XY disorder of sex development of gynecological interest comment: These terms are not used clinically. +subset: gard_rare {source="GARD:21478"} synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632] +xref: GARD:21478 {source="Orphanet:325632", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325632 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227238 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -347129,7 +361607,9 @@ consider: MONDO:0002145 id: MONDO:0017978 name: obsolete syndrome with disorder of sex development of gynecological interest comment: These terms are not used clinically. +subset: gard_rare {source="GARD:21479"} synonym: "syndrome with DSD of gynecological interest" EXACT [Orphanet:325638] +xref: GARD:21479 {source="MONDO:obsoleteEquivalent", source="Orphanet:325638"} xref: Orphanet:325638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204125 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -347140,6 +361620,7 @@ consider: MONDO:0002145 id: MONDO:0017979 name: autoimmune lymphoproliferative syndrome def: "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." [Orphanet:3261] +subset: gard_rare {source="GARD:8686"} subset: ordo_disease {source="Orphanet:3261"} synonym: "ALPS" EXACT ABBREVIATION [Orphanet:3261] synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [DOID:6688] @@ -347148,6 +361629,7 @@ synonym: "Canale-Smith syndrome" EXACT [DOID:6688, Orphanet:3261] synonym: "FAS deficiency" EXACT [Orphanet:3261] xref: CSP:1560-5548 {source="DOID:6688"} xref: DOID:6688 {source="MONDO:equivalentTo"} +xref: GARD:8686 {source="Orphanet:3261"} xref: ICD10CM:D47.9 {source="DOID:6688", source="Orphanet:3261/attributed", source="Orphanet:3261/ntbt", source="Orphanet:3261"} xref: ICD10CM:D89.82 {source="DOID:6688"} xref: ICD9:279.41 {source="DOID:6688"} @@ -347167,10 +361649,11 @@ relationship: excluded_subClassOf MONDO:0015757 {source="Orphanet:3261"} ! lymph [Term] id: MONDO:0017980 name: syngnathia multiple anomalies -subset: gard_rare {source="GARD:0005092"} +subset: gard_rare {source="GARD:5092"} subset: ordo_malformation_syndrome {source="Orphanet:3262"} synonym: "dobrow syndrome" EXACT [MONDO:0023000] synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262] +xref: GARD:5092 {source="Orphanet:3262"} xref: Orphanet:3262 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -347186,8 +361669,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5092/syngnat [Term] id: MONDO:0017981 name: syngnathia-cleft palate syndrome +subset: gard_rare {source="GARD:5091"} subset: ordo_malformation_syndrome {source="Orphanet:3263"} synonym: "syngnathia cleft palate" RELATED [GARD:0005091] +xref: GARD:5091 {source="Orphanet:3263"} xref: Orphanet:3263 {source="MONDO:equivalentTo"} xref: UMLS:CN204137 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -347202,8 +361687,10 @@ replaced_by: MONDO:0009356 id: MONDO:0017983 name: humero-radio-ulnar synostosis def: "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." [Orphanet:3266] +subset: gard_rare {source="GARD:2749"} subset: ordo_morphological_anomaly {source="Orphanet:3266"} synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266] +xref: GARD:2749 {source="Orphanet:3266"} xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="Orphanet:3266/attributed", source="Orphanet:3266/ntbt"} xref: Orphanet:3266 {source="MONDO:equivalentTo"} is_a: MONDO:0001411 {source="PMID:12370583", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis @@ -347230,7 +361717,7 @@ consider: MONDO:0010929 id: MONDO:0017985 name: congenital radioulnar synostosis def: "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." [Orphanet:3269] -subset: gard_rare +subset: gard_rare {source="GARD:10876"} subset: ordo_morphological_anomaly {source="Orphanet:3269"} synonym: "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius" RELATED [GARD:0004630] synonym: "radial-ulnar synostosis" RELATED [GARD:0010876] @@ -347240,6 +361727,7 @@ synonym: "radioulnar fusion" EXACT [Orphanet:3269] synonym: "radioulnar synostosis" EXACT [MONDO:ambiguous] synonym: "radioulnar synostosis (disease)" EXACT [MONDO:0008360] xref: DOID:9827 {source="MONDO:equivalentTo"} +xref: GARD:10876 {source="Orphanet:3269"} xref: HP:0002974 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:3269/inclusion", source="Orphanet:3269/ntbt", source="Orphanet:3269", source="DOID:9827"} xref: ICD9:755.53 {source="DOID:9827", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -347261,8 +361749,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017986 name: disorder of plasmalogens biosynthesis subset: disease_grouping +subset: gard_rare {source="GARD:18790"} subset: ordo_group_of_disorders {source="Orphanet:3276"} synonym: "disorder of plasmalogens biosynthesis" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] +xref: GARD:18790 {source="Orphanet:3276"} xref: Orphanet:3276 {source="MONDO:equivalentTo"} xref: UMLS:CN237437 {source="MONDO:equivalentTo"} is_a: MONDO:0019053 {source="MONDO:Redundant", source="Orphanet:3276"} ! peroxisomal disease @@ -347275,10 +361765,11 @@ id: MONDO:0017987 name: syringomyelia def: "Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." [Orphanet:3280] subset: disease_grouping -subset: gard_rare {source="GARD:0007725"} +subset: gard_rare {source="GARD:7725"} subset: ordo_group_of_disorders {source="Orphanet:3280"} synonym: "hydromyelia" RELATED [Orphanet:3280] xref: DOID:327 {source="MONDO:equivalentTo"} +xref: GARD:7725 {source="Orphanet:3280"} xref: ICD10CM:G95.0 {source="Orphanet:3280", source="Orphanet:3280/e"} xref: ICD10CM:Q06.4 {source="Orphanet:3280", source="Orphanet:3280/e"} xref: MedDRA:10042928 {source="Orphanet:3280", source="Orphanet:3280/e"} @@ -347299,11 +361790,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7725/syringo id: MONDO:0017988 name: multifocal atrial tachycardia def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [Orphanet:3282] +subset: gard_rare {source="GARD:1235"} subset: ordo_disease {source="Orphanet:3282"} synonym: "chaotic atrial tachycardia" EXACT [Orphanet:3282] synonym: "MAT" EXACT ABBREVIATION [Orphanet:3282] synonym: "multifocal atrial tachycardia" EXACT [MONDO:ambiguous] synonym: "multifocal atrial tachycardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:1235 {source="Orphanet:3282"} xref: HP:0011701 {source="MONDO:otherHierarchy"} xref: ICD10CM:I47.1 {source="Orphanet:3282", source="Orphanet:3282/ntbt"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -347319,10 +361812,11 @@ property_value: IAO:0000589 "multifocal atrial tachycardia (disease)" xsd:string id: MONDO:0017989 name: His bundle tachycardia def: "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." [Orphanet:3283] -subset: gard_rare {source="GARD:0002706"} +subset: gard_rare {source="GARD:2706"} subset: ordo_disease {source="Orphanet:3283"} synonym: "JET" EXACT ABBREVIATION [Orphanet:3283] synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283] +xref: GARD:2706 {source="Orphanet:3283"} xref: ICD10CM:I47.1 {source="Orphanet:3283/e", source="Orphanet:3283/inclusion", source="Orphanet:3283"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D013613 {source="MONDO:equivalentTo"} @@ -347338,7 +361832,7 @@ id: MONDO:0017990 name: catecholaminergic polymorphic ventricular tachycardia def: "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." [Orphanet:3286] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:4421"} subset: ordo_disease {source="Orphanet:3286"} synonym: "bidirectional tachycardia induced by catecholamine" EXACT [Orphanet:3286] synonym: "catecholamine-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421] @@ -347353,6 +361847,7 @@ synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [GARD:0004 synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421] synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS:604772] xref: DOID:0060674 {source="MONDO:equivalentTo"} +xref: GARD:4421 {source="Orphanet:3286"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="Orphanet:3286/attributed", source="Orphanet:3286/ntbt", source="Orphanet:3286"} xref: MESH:C536334 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"} @@ -347367,6 +361862,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604772"} ! inheri id: MONDO:0017991 name: Takayasu arteritis def: "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." [Orphanet:3287] +subset: gard_rare {source="GARD:19639", source="GARD:7730"} subset: ordo_disease {source="Orphanet:3287"} synonym: "aortic arch arteritis" EXACT [DOID:2508] synonym: "aortic arch syndrome" EXACT [DOID:2508, NCIT:C34391, Orphanet:99079] @@ -347382,6 +361878,8 @@ synonym: "Takayasu's disease" EXACT [DOID:2508, ICD9CM:446.7] synonym: "Young female arteritis" RELATED [OMIM:207600] xref: DOID:2508 {source="MONDO:equivalentTo"} xref: EFO:1001857 {source="MONDO:equivalentTo"} +xref: GARD:19639 {source="Orphanet:99079"} +xref: GARD:7730 {source="Orphanet:3287"} xref: ICD10CM:M31.4 {source="Orphanet:3287", source="Orphanet:3287/e", source="DOID:2508"} xref: ICD10CM:Q25.4 {source="Orphanet:99079/ntbt", source="Orphanet:99079"} xref: ICD9:446.7 {source="DOID:2508"} @@ -347415,7 +361913,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017992 name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis +subset: gard_rare {source="GARD:17494"} subset: ordo_disease {source="Orphanet:329173"} +xref: GARD:17494 {source="Orphanet:329173"} xref: Orphanet:329173 {source="MONDO:equivalentTo"} xref: UMLS:CN237438 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism @@ -347429,8 +361929,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017993 name: cerebral sinovenous thrombosis def: "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." [PMID:28798906] +subset: gard_rare {source="GARD:21485"} subset: ordo_disease {source="Orphanet:329217"} synonym: "CSVT" EXACT ABBREVIATION [Orphanet:329217, PMID:28798906] +xref: GARD:21485 {source="Orphanet:329217"} xref: ICD10CM:I67.6 {source="Orphanet:329217", source="Orphanet:329217/ntbt"} xref: Orphanet:329217 {source="MONDO:equivalentTo"} is_a: MONDO:0011057 {source="PMID:28798906"} ! cerebrovascular disorder @@ -347441,7 +361943,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare [Term] id: MONDO:0017994 name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency +subset: gard_rare {source="GARD:21486"} subset: ordo_disease {source="Orphanet:329249"} +xref: GARD:21486 {source="Orphanet:329249"} xref: ICD10CM:E66.8 {source="Orphanet:329249/attributed", source="Orphanet:329249/ntbt", source="Orphanet:329249"} xref: Orphanet:329249 {source="MONDO:equivalentTo"} xref: UMLS:CN204200 {source="MONDO:equivalentTo"} @@ -347478,7 +361982,9 @@ consider: MONDO:0009485 id: MONDO:0017997 name: telecanthus-hypertelorism-strabismus-pes cavus syndrome def: "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." [Orphanet:3293] +subset: gard_rare {source="GARD:18791"} subset: ordo_malformation_syndrome {source="Orphanet:3293"} +xref: GARD:18791 {source="Orphanet:3293"} xref: Orphanet:3293 {source="MONDO:equivalentTo"} xref: UMLS:CN204205 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:3293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -347488,10 +361994,12 @@ id: MONDO:0017998 name: PLA2G6-associated neurodegeneration def: "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping +subset: gard_rare {source="GARD:12567"} subset: ordo_group_of_disorders {source="Orphanet:329303"} synonym: "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6" EXACT [] synonym: "PLA2G6 neurodegeneration with brain iron accumulation" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:329303] +xref: GARD:12567 {source="Orphanet:329303"} xref: ICD10CM:G23.0 {source="Orphanet:329303/attributed", source="Orphanet:329303/ntbt", source="Orphanet:329303"} xref: Orphanet:329303 {source="MONDO:equivalentTo"} intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation @@ -347503,8 +362011,10 @@ relationship: excluded_subClassOf MONDO:0018307 {source="Orphanet:329303"} ! neu id: MONDO:0017999 name: fatty acid hydroxylase-associated neurodegeneration def: "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." [Orphanet:329308] +subset: gard_rare {source="GARD:10810"} subset: ordo_disease {source="Orphanet:329308"} synonym: "FAHN" EXACT ABBREVIATION [Orphanet:329308] +xref: GARD:10810 {source="Orphanet:329308"} xref: ICD10CM:G23.0 {source="Orphanet:329308", source="Orphanet:329308/attributed", source="Orphanet:329308/ntbt"} xref: MESH:C580102 {source="MONDO:equivalentTo"} xref: Orphanet:329308 {source="MONDO:equivalentTo"} @@ -347518,9 +362028,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018000 name: hereditary thrombocytosis with transverse limb defect def: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." [Orphanet:329319] +subset: gard_rare {source="GARD:21487"} subset: ordo_disease {source="Orphanet:329319"} synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319] synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319] +xref: GARD:21487 {source="Orphanet:329319"} xref: ICD10CM:Q87.2 {source="Orphanet:329319", source="Orphanet:329319/attributed", source="Orphanet:329319/ntbt"} xref: Orphanet:329319 {source="MONDO:equivalentTo"} xref: UMLS:CN204208 {source="MONDO:equivalentTo"} @@ -347531,9 +362043,11 @@ is_a: MONDO:0021181 {source="MONDO:0016636-obsoleted"} ! inherited blood coagula [Term] id: MONDO:0018001 name: inverse Klippel-Trenaunay syndrome +subset: gard_rare {source="GARD:21488"} subset: ordo_disease {source="Orphanet:329324"} synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324] synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324] +xref: GARD:21488 {source="Orphanet:329324"} xref: ICD10CM:Q87.2 {source="Orphanet:329324/ntbt", source="Orphanet:329324/inclusion", source="Orphanet:329324"} xref: Orphanet:329324 {source="MONDO:equivalentTo"} xref: UMLS:CN204209 {source="MONDO:equivalentTo"} @@ -347544,8 +362058,10 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0018002 name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy def: "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." [Orphanet:329336] +subset: gard_rare {source="GARD:17503"} subset: ordo_disease {source="Orphanet:329336"} synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [Orphanet:329336] +xref: GARD:17503 {source="Orphanet:329336"} xref: ICD10CM:G71.3 {source="Orphanet:329336/attributed", source="Orphanet:329336/ntbt", source="Orphanet:329336"} xref: Orphanet:329336 {source="MONDO:equivalentTo"} xref: SCTID:725464001 {source="MONDO:equivalentTo"} @@ -347566,8 +362082,10 @@ is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic en [Term] id: MONDO:0018004 name: acute megakaryoblastic leukemia without down syndrome +subset: gard_rare {source="GARD:21490"} subset: ordo_clinical_subtype {source="Orphanet:329469"} synonym: "non-DS-AMKL" EXACT [Orphanet:329469] +xref: GARD:21490 {source="Orphanet:329469"} xref: ICD10CM:C94.2 {source="Orphanet:329469/ntbt", source="Orphanet:329469"} xref: Orphanet:329469 {source="MONDO:equivalentTo"} xref: UMLS:CN204216 {source="MONDO:equivalentTo"} @@ -347578,7 +362096,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018005 name: spastic paraplegia-Paget disease of bone syndrome def: "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." [Orphanet:329475] +subset: gard_rare {source="GARD:21491"} subset: ordo_disease {source="Orphanet:329475"} +xref: GARD:21491 {source="Orphanet:329475"} xref: ICD10CM:G11.4 {source="Orphanet:329475/attributed", source="Orphanet:329475/ntbt", source="Orphanet:329475"} xref: Orphanet:329475 {source="MONDO:equivalentTo"} xref: UMLS:CN204217 {source="MONDO:equivalentTo"} @@ -347589,7 +362109,9 @@ relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:329475"} ! obs id: MONDO:0018006 name: adult-onset distal myopathy due to VCP mutation def: "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." [Orphanet:329478] +subset: gard_rare {source="GARD:21492"} subset: ordo_disease {source="Orphanet:329478"} +xref: GARD:21492 {source="Orphanet:329478"} xref: ICD10CM:G71.0 {source="Orphanet:329478/attributed", source="Orphanet:329478/ntbt", source="Orphanet:329478"} xref: Orphanet:329478 {source="MONDO:equivalentTo"} xref: UMLS:CN204218 {source="MONDO:equivalentTo"} @@ -347601,10 +362123,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0018007 name: mosaic genome-wide paternal uniparental disomy +subset: gard_rare {source="GARD:21493"} subset: ordo_malformation_syndrome {source="Orphanet:329813"} synonym: "androgenetic/biparental mosaicism" EXACT [Orphanet:329813] synonym: "genome-wide paternal uniparental disomy mosaicism" EXACT [Orphanet:329813] synonym: "Mosaic genome-wide paternal UPD" EXACT [Orphanet:329813] +xref: GARD:21493 {source="Orphanet:329813"} xref: Orphanet:329813 {source="MONDO:equivalentTo"} xref: UMLS:CN230278 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -347613,8 +362137,10 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 [Term] id: MONDO:0018008 name: idiopathic giant cell myocarditis +subset: gard_rare {source="GARD:21494"} subset: ordo_disease {source="Orphanet:329874"} synonym: "IGCM" EXACT ABBREVIATION [Orphanet:329874] +xref: GARD:21494 {source="Orphanet:329874"} xref: ICD10CM:I40.8 {source="Orphanet:329874/ntbt", source="Orphanet:329874"} xref: Orphanet:329874 {source="MONDO:equivalentTo"} is_a: MONDO:0004994 {source="Orphanet:329874"} ! cardiomyopathy @@ -347624,8 +362150,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018009 name: non-hypoproteinemic hypertrophic gastropathy def: "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." [Orphanet:329883] +subset: gard_rare {source="GARD:21495"} subset: ordo_disease {source="Orphanet:329883"} synonym: "hypertrophic gastropathy without hypoproteinemia" EXACT [Orphanet:329883] +xref: GARD:21495 {source="Orphanet:329883"} xref: ICD10CM:K29.6 {source="Orphanet:329883", source="Orphanet:329883/ntbt"} xref: Orphanet:329883 {source="MONDO:equivalentTo"} is_a: MONDO:0004298 {source="https://orcid.org/0000-0002-3458-4839"} ! stomach disorder @@ -347635,8 +362163,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018010 name: juvenile idiopathic inflammatory myopathy subset: disease_grouping +subset: gard_rare {source="GARD:21496"} subset: ordo_group_of_disorders {source="Orphanet:329888"} synonym: "JIIM" EXACT ABBREVIATION [Orphanet:329888] +xref: GARD:21496 {source="Orphanet:329888"} xref: Orphanet:329888 {source="MONDO:equivalentTo"} is_a: MONDO:0020122 {source="Orphanet:329888"} ! acquired idiopathic inflammatory myopathy @@ -347644,7 +362174,9 @@ is_a: MONDO:0020122 {source="Orphanet:329888"} ! acquired idiopathic inflammator id: MONDO:0018011 name: juvenile overlap myositis def: "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." [Orphanet:329894] +subset: gard_rare {source="GARD:21497"} subset: ordo_disease {source="Orphanet:329894"} +xref: GARD:21497 {source="Orphanet:329894"} xref: ICD10CM:M33.0 {source="Orphanet:329894", source="Orphanet:329894/ntbt"} xref: Orphanet:329894 {source="MONDO:equivalentTo"} xref: SCTID:766252004 {source="MONDO:equivalentTo"} @@ -347659,11 +362191,13 @@ replaced_by: MONDO:0005526 [Term] id: MONDO:0018013 name: non-immunoglobulin-mediated membranoproliferative glomerulonephritis +subset: gard_rare {source="GARD:17507"} subset: ordo_clinical_subtype {source="Orphanet:329918"} synonym: "C3 glomerulopathy" EXACT [Orphanet:329918] synonym: "non-Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329918] synonym: "non-Ig-mediated MPGN" EXACT [Orphanet:329918] synonym: "non-immunoglobulin-mediated MPGN" EXACT [Orphanet:329918] +xref: GARD:17507 {source="Orphanet:329918"} xref: ICD10CM:N00.5 {source="Orphanet:329918", source="Orphanet:329918/attributed", source="Orphanet:329918/ntbt"} xref: Orphanet:329918 {source="MONDO:equivalentTo"} is_a: MONDO:0018904 {source="Orphanet:329918"} ! primary membranoproliferative glomerulonephritis @@ -347672,11 +362206,13 @@ is_a: MONDO:0018904 {source="Orphanet:329918"} ! primary membranoproliferative g id: MONDO:0018014 name: transient neonatal multiple acyl-CoA dehydrogenase deficiency def: "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." [Orphanet:329942] +subset: gard_rare {source="GARD:21498"} subset: ordo_disease {source="Orphanet:329942"} synonym: "transient neonatal glutaric acidemia type 2" EXACT [Orphanet:329942] synonym: "transient neonatal glutaric aciduria type 2" EXACT [Orphanet:329942] synonym: "transient neonatal MAD deficiency" EXACT [Orphanet:329942] synonym: "transient neonatal MADD" EXACT [Orphanet:329942] +xref: GARD:21498 {source="Orphanet:329942"} xref: ICD10CM:E71.3 {source="Orphanet:329942/attributed", source="Orphanet:329942/ntbt", source="Orphanet:329942"} xref: Orphanet:329942 {source="MONDO:equivalentTo"} xref: SCTID:723552005 {source="MONDO:equivalentTo"} @@ -347687,7 +362223,9 @@ relationship: has_characteristic HP:0025153 ! Transient [Term] id: MONDO:0018015 name: intermittent hydrarthrosis +subset: gard_rare {source="GARD:21499"} subset: ordo_disease {source="Orphanet:329967"} +xref: GARD:21499 {source="Orphanet:329967"} xref: ICD10CM:M12.4 {source="Orphanet:329967", source="MONDO:equivalentTo", source="Orphanet:329967/e", source="Orphanet:329967/specific"} xref: Orphanet:329967 {source="MONDO:equivalentTo"} xref: SCTID:711286009 {source="MONDO:equivalentTo"} @@ -347699,11 +362237,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare id: MONDO:0018016 name: classic neuroendocrine tumor of appendix def: "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." [Orphanet:329977] +subset: gard_rare {source="GARD:21500"} subset: ordo_clinical_subtype {source="Orphanet:329977"} synonym: "classic appendiceal neuroendocrine tumor" EXACT [Orphanet:329977] synonym: "classic appendiceal neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "classic appendix neuroendocrine tumor" EXACT [Orphanet:329977] synonym: "classic appendix neuroendocrine tumour" EXACT OMO:0003005 [] +xref: GARD:21500 {source="Orphanet:329977"} xref: ICD10CM:D37.3 {source="Orphanet:329977", source="Orphanet:329977/ntbt"} xref: Orphanet:329977 {source="MONDO:equivalentTo"} xref: UMLS:CN204231 {source="MONDO:equivalentTo"} @@ -347713,6 +362253,7 @@ is_a: MONDO:0015066 {source="Orphanet:329977"} ! neuroendocrine tumor of the app id: MONDO:0018017 name: goblet cell carcinoma def: "An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." [https://orcid.org/0000-0001-5208-3432, Orphanet:329984] +subset: gard_rare {source="GARD:10414"} subset: ordo_clinical_subtype {source="Orphanet:329984"} synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689] synonym: "appendix adenocarcinoid tumour" EXACT OMO:0003005 [] @@ -347735,6 +362276,7 @@ synonym: "mucinous carcinoid" RELATED [GARD:0010414] synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689] synonym: "mucinous carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000090 {source="MONDO:equivalentTo"} +xref: GARD:10414 {source="Orphanet:329984"} xref: ICD10CM:C18.1 {source="Orphanet:329984/ntbt", source="Orphanet:329984"} xref: ICDO:8243/3 {source="NCIT:C3689"} xref: NCIT:C3689 {source="MONDO:equivalentTo", source="EFO:1000090", source="MONDO:exact-label-match"} @@ -347752,6 +362294,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018018 name: wild type ATTR amyloidosis +subset: gard_rare {source="GARD:21501"} subset: ordo_disease {source="Orphanet:330001"} synonym: "ATTRwt amyloidosis" EXACT [Orphanet:330001] synonym: "ATTRwt-related amyloidosis" EXACT [Orphanet:330001] @@ -347759,6 +362302,7 @@ synonym: "Senile systemic amyloidosis" EXACT [Orphanet:330001] synonym: "SSA" EXACT ABBREVIATION [Orphanet:330001] synonym: "wild type ATTR-related amyloidosis" EXACT [Orphanet:330001] xref: DOID:0080937 {source="MONDO:equivalentTo"} +xref: GARD:21501 {source="Orphanet:330001"} xref: ICD10CM:E85.8 {source="Orphanet:330001", source="Orphanet:330001/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:330001 {source="MONDO:equivalentTo"} @@ -347772,10 +362316,12 @@ is_a: MONDO:0019065 {source="Orphanet:330001"} ! amyloidosis id: MONDO:0018019 name: lead poisoning def: "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." [Orphanet:330015] +subset: gard_rare {source="GARD:21503"} subset: ordo_disease {source="Orphanet:330015"} synonym: "Lead intoxication" EXACT [Orphanet:330015] synonym: "plumbism" EXACT [Orphanet:330015] synonym: "saturnism" EXACT [Orphanet:330015] +xref: GARD:21503 {source="Orphanet:330015"} xref: ICD10CM:T56.0 {source="Orphanet:330015", source="Orphanet:330015/e"} xref: ICD9:984.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:984.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -347790,13 +362336,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0018020 name: mercury poisoning def: "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." [Orphanet:330021] -subset: gard_rare {source="GARD:0007021"} +subset: gard_rare {source="GARD:7021"} subset: ordo_disease {source="Orphanet:330021"} synonym: "hydrargyria" EXACT [Orphanet:330021] synonym: "mercurialism" EXACT [Orphanet:330021] synonym: "Mercury intoxication" EXACT [Orphanet:330021] synonym: "Mercury toxicity" RELATED [GARD:0007021] xref: EFO:1001810 {source="MONDO:equivalentTo"} +xref: GARD:7021 {source="Orphanet:330021"} xref: ICD10CM:T56.1 {source="Orphanet:330021", source="Orphanet:330021/e"} xref: ICD9:985.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008630 {source="MONDO:equivalentTo"} @@ -347812,7 +362359,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7021/mercury [Term] id: MONDO:0018021 name: hypotrichosis-deafness syndrome +subset: gard_rare {source="GARD:21504"} subset: ordo_disease {source="Orphanet:330029"} +xref: GARD:21504 {source="Orphanet:330029"} xref: ICD10CM:H90.5 {source="Orphanet:330029", source="Orphanet:330029/attributed", source="Orphanet:330029/ntbt"} xref: Orphanet:330029 {source="MONDO:equivalentTo"} xref: UMLS:CN204237 {source="MONDO:equivalentTo"} @@ -347825,9 +362374,11 @@ relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:330029"} ! obs [Term] id: MONDO:0018022 name: hemoglobin Lepore-beta-thalassemia syndrome +subset: gard_rare {source="GARD:21505"} subset: ordo_disease {source="Orphanet:330032"} synonym: "HbLepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] synonym: "Lepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] +xref: GARD:21505 {source="Orphanet:330032"} xref: ICD10CM:D56.8 {source="Orphanet:330032", source="Orphanet:330032/attributed", source="Orphanet:330032/ntbt"} xref: Orphanet:330032 {source="MONDO:equivalentTo"} xref: UMLS:CN227251 {source="MONDO:equivalentTo"} @@ -347836,6 +362387,7 @@ is_a: MONDO:0017145 {source="Orphanet:330032"} ! beta-thalassemia and related di [Term] id: MONDO:0018023 name: hemoglobin M disease +subset: gard_rare {source="GARD:13007", source="GARD:16276"} subset: ordo_disease {source="Orphanet:330041"} synonym: "autosomal dominant methemoglobinemia" RELATED [GARD:0013007] synonym: "blue baby syndrome" RELATED [GARD:0013007] @@ -347844,6 +362396,8 @@ synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD synonym: "M hemoglobinopathy" EXACT [Orphanet:330041] synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2] synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007] +xref: GARD:13007 {source="Orphanet:330041"} +xref: GARD:16276 {source="OMIM:617971"} xref: ICD10CM:D74.0 {source="Orphanet:330041/attributed", source="Orphanet:330041/ntbt", source="Orphanet:330041"} xref: MESH:C581942 {source="MONDO:equivalentTo"} xref: OMIM:617971 {source="MONDO:equivalentTo"} @@ -347861,9 +362415,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018024 name: hydroa vacciniforme def: "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." [NCIT:C84766] -subset: gard_rare {source="GARD:0009654"} +subset: gard_rare {source="GARD:9654"} subset: ordo_disease {source="Orphanet:330058"} synonym: "hV" RELATED [GARD:0009654] +xref: GARD:9654 {source="Orphanet:330058"} xref: ICD10CM:L56.4 {source="Orphanet:330058/ntbt", source="Orphanet:330058"} xref: MESH:D006837 {source="MONDO:equivalentTo"} xref: NCIT:C84766 {source="MONDO:equivalentTo"} @@ -347877,9 +362432,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9654/hydroa- [Term] id: MONDO:0018025 name: chronic actinic dermatitis +subset: gard_rare {source="GARD:21506"} subset: ordo_disease {source="Orphanet:330064"} synonym: "actinic reticuloid" EXACT [Orphanet:330064] synonym: "chronic photosensitivity dermatitis" EXACT [Orphanet:330064] +xref: GARD:21506 {source="Orphanet:330064"} xref: ICD10CM:L57.8 {source="Orphanet:330064", source="Orphanet:330064/ntbt"} xref: ICD9:692.73 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:330064 {source="MONDO:equivalentTo"} @@ -347893,9 +362450,10 @@ relationship: has_characteristic PATO:0001863 ! chronic id: MONDO:0018026 name: tetraploidy syndrome def: "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." [MESH:D057891] -subset: gard_rare {source="GARD:0005151"} +subset: gard_rare {source="GARD:5151"} subset: ordo_malformation_syndrome {source="Orphanet:3305"} synonym: "tetraploidy" EXACT [] +xref: GARD:5151 {source="Orphanet:3305"} xref: ICD10CM:Q92.7 {source="Orphanet:3305", source="Orphanet:3305/attributed", source="Orphanet:3305/ntbt"} xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="Orphanet:3305/e"} xref: Orphanet:3305 {source="MONDO:equivalentTo"} @@ -347909,7 +362467,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5151/tetrapl id: MONDO:0018027 name: duplication/inversion 15q11 def: "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005153] -subset: gard_rare +subset: gard_rare {source="GARD:5153"} subset: ordo_malformation_syndrome {source="Orphanet:3306"} synonym: "chromosome 15q tetrasomy" RELATED [GARD:0005153] synonym: "duplication/inversion 15q11" EXACT [GARD:0005153] @@ -347923,6 +362481,7 @@ synonym: "Isodicentric chromosome 15 syndrome" RELATED [GARD:0005153] synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "tetrasomy 15q" RELATED [GARD:0005153] +xref: GARD:5153 {source="Orphanet:3306"} xref: ICD10CM:Q99.8 {source="Orphanet:3306", source="Orphanet:3306/attributed", source="Orphanet:3306/ntbt"} xref: MESH:C580205 {source="MONDO:equivalentTo"} xref: Orphanet:3306 {source="MONDO:equivalentTo", source="GARD:0005153"} @@ -347939,9 +362498,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5153/isodice id: MONDO:0018028 name: tetrasomy 5p def: "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." [Orphanet:3309] +subset: gard_rare {source="GARD:18792"} subset: ordo_malformation_syndrome {source="Orphanet:3309"} synonym: "Isochromosome 5p" EXACT [Orphanet:3309] synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309] +xref: GARD:18792 {source="Orphanet:3309"} xref: ICD10CM:Q99.8 {source="Orphanet:3309", source="Orphanet:3309/attributed", source="Orphanet:3309/ntbt"} xref: Orphanet:3309 {source="MONDO:equivalentTo"} xref: SCTID:766755003 {source="MONDO:equivalentTo"} @@ -347954,6 +362515,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018029 name: congenital factor XIII deficiency def: "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." [Orphanet:331] +subset: gard_rare {source="GARD:10766"} subset: ordo_disease {source="Orphanet:331"} synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211] synonym: "factor XIII deficiency" RELATED [DOID:2211] @@ -347963,6 +362525,7 @@ synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766] synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331] synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211] xref: DOID:2211 {source="MONDO:equivalentTo"} +xref: GARD:10766 {source="Orphanet:331"} xref: ICD10CM:D68.2 {source="Orphanet:331/attributed", source="Orphanet:331/ntbt", source="Orphanet:331"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005177 {source="DOID:2211"} @@ -347983,13 +362546,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018030 name: tetrasomy 9p def: "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." [Orphanet:3310] -subset: gard_rare {source="GARD:0000042"} +subset: gard_rare {source="GARD:42"} subset: ordo_malformation_syndrome {source="Orphanet:3310"} synonym: "chromosome 9p tetrasomy" RELATED [GARD:0000042] synonym: "Isochromosome 9p" EXACT [Orphanet:3310] synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042] synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042] synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310] +xref: GARD:42 {source="Orphanet:3310"} xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="Orphanet:3310/attributed", source="Orphanet:3310/ntbt"} xref: MESH:C538027 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} xref: Orphanet:3310 {source="MONDO:equivalentTo"} @@ -348004,8 +362568,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/42/tetrasomy id: MONDO:0018031 name: granulomatous slack skin disease def: "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." [Orphanet:33111] +subset: gard_rare {source="GARD:10986"} subset: ordo_disease {source="Orphanet:33111"} synonym: "granulomatous slack skin" EXACT [] +xref: GARD:10986 {source="Orphanet:33111"} xref: ICD10CM:C84.0 {source="Orphanet:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"} xref: NCIT:C35464 {source="MONDO:equivalentTo"} xref: Orphanet:33111 {source="MONDO:equivalentTo"} @@ -348019,7 +362585,9 @@ is_a: MONDO:0045071 {source="NCIT:C35464"} ! mycosis fungoides variant id: MONDO:0018032 name: obsolete constitutional neutropenia with extra-hematopoietic manifestations subset: disease_grouping +subset: gard_rare {source="GARD:21508"} subset: ordo_group_of_disorders {source="Orphanet:331184"} +xref: GARD:21508 {source="MONDO:obsoleteEquivalent", source="Orphanet:331184"} xref: Orphanet:331184 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -348027,7 +362595,9 @@ is_obsolete: true id: MONDO:0018033 name: obsolete other immunodeficiency syndromes due to defects in innate immunity subset: disease_grouping +subset: gard_rare {source="GARD:21509"} subset: ordo_group_of_disorders {source="Orphanet:331193"} +xref: GARD:21509 {source="MONDO:obsoleteEquivalent", source="Orphanet:331193"} xref: Orphanet:331193 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204276 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -348038,11 +362608,13 @@ is_obsolete: true id: MONDO:0018034 name: thalidomide embryopathy def: "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." [Orphanet:3312] +subset: gard_rare {source="GARD:2313"} subset: ordo_disease {source="Orphanet:3312"} synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312] synonym: "foetal thalidomide syndrome" EXACT OMO:0003005 [] synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082] synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082] +xref: GARD:2313 {source="Orphanet:3312"} xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="Orphanet:3312/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071249 {source="Orphanet:3312", source="Orphanet:3312/e"} @@ -348059,7 +362631,9 @@ is_a: MONDO:0019054 ! congenital limb malformation id: MONDO:0018035 name: obsolete syndrome with combined immunodeficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21510"} subset: ordo_group_of_disorders {source="Orphanet:331217"} +xref: GARD:21510 {source="MONDO:obsoleteEquivalent", source="Orphanet:331217"} xref: Orphanet:331217 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204279 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -348071,7 +362645,9 @@ consider: MONDO:0002254 id: MONDO:0018036 name: obsolete immunodeficiency due to absence of thymus comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' +subset: gard_rare {source="GARD:21511"} subset: ordo_group_of_disorders {source="Orphanet:331220"} +xref: GARD:21511 {source="Orphanet:331220", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D81.4 {source="Orphanet:331220", source="Orphanet:331220/attributed", source="Orphanet:331220/ntbt"} xref: Orphanet:331220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -348084,12 +362660,13 @@ id: MONDO:0018037 name: hyper-IgE syndrome def: "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." [NCIT:C3144] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:10956"} subset: ordo_group_of_disorders {source="Orphanet:331223"} synonym: "HIES" EXACT ABBREVIATION [GARD:0010956] synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956] synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144] xref: DOID:0080545 {source="MONDO:equivalentTo"} +xref: GARD:10956 {source="Orphanet:331223"} xref: ICD10CM:D82.4 {source="Orphanet:331223", source="Orphanet:331223/specific", source="Orphanet:331223/e"} xref: NCIT:C3144 {source="MONDO:equivalentTo"} xref: OMIMPS:147060 {source="MONDO:equivalentTo"} @@ -348103,7 +362680,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147060"} ! inheri id: MONDO:0018038 name: obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells subset: disease_grouping +subset: gard_rare {source="GARD:21512"} subset: ordo_group_of_disorders {source="Orphanet:331232"} +xref: GARD:21512 {source="Orphanet:331232", source="MONDO:obsoleteEquivalent"} xref: Orphanet:331232 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -348111,12 +362690,13 @@ is_obsolete: true id: MONDO:0018039 name: selective IgM deficiency def: "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." [https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency] -subset: gard_rare {source="GARD:0012547"} +subset: gard_rare {source="GARD:12547"} subset: ordo_disease {source="Orphanet:331235"} synonym: "selective IgM deficiency disease" EXACT [MONDO:0000289] synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235] synonym: "SIgMD" RELATED [GARD:0012547] xref: DOID:0050222 {source="MONDO:equivalentTo"} +xref: GARD:12547 {source="Orphanet:331235"} xref: ICD10CM:D80.4 {source="Orphanet:331235", source="Orphanet:331235/e", source="Orphanet:331235/specific"} xref: ICD9:279.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:331235 {source="MONDO:equivalentTo"} @@ -348128,6 +362708,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12547/select id: MONDO:0018040 name: obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells comment: This is a grouping class from Orphanet that only had a single child, and was undefined. +subset: gard_rare {source="GARD:21513"} +xref: GARD:21513 {source="MONDO:obsoleteEquivalent", source="Orphanet:331240"} xref: Orphanet:331240 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1667" xsd:anyURI is_obsolete: true @@ -348137,7 +362719,9 @@ consider: MONDO:0003947 id: MONDO:0018041 name: obsolete other immunodeficiency syndrome with predominantly antibody defects subset: disease_grouping +subset: gard_rare {source="GARD:21514"} subset: ordo_group_of_disorders {source="Orphanet:331244"} +xref: GARD:21514 {source="Orphanet:331244", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.8 {source="Orphanet:331244", source="Orphanet:331244/e", source="Orphanet:331244/specific"} xref: Orphanet:331244 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204282 {source="MONDO:obsoleteEquivalent"} @@ -348149,8 +362733,10 @@ is_obsolete: true id: MONDO:0018042 name: obsolete immunodeficiency syndrome with abnormal pigmentation comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' +subset: gard_rare {source="GARD:21515"} subset: ordo_group_of_disorders {source="Orphanet:331249"} synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [Orphanet:331249] +xref: GARD:21515 {source="MONDO:obsoleteEquivalent", source="Orphanet:331249"} xref: Orphanet:331249 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204283 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -348162,8 +362748,10 @@ consider: MONDO:0021094 id: MONDO:0018043 name: Thomas syndrome def: "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." [Orphanet:3316] +subset: gard_rare {source="GARD:5175"} subset: ordo_malformation_syndrome {source="Orphanet:3316"} synonym: "Potter sequence-cleft lip/palate-cardiopathy syndrome" EXACT [Orphanet:3316] +xref: GARD:5175 {source="Orphanet:3316"} xref: ICD10CM:Q87.8 {source="Orphanet:3316", source="Orphanet:3316/attributed", source="Orphanet:3316/ntbt"} xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"} xref: Orphanet:3316 {source="MONDO:equivalentTo"} @@ -348176,10 +362764,11 @@ is_a: MONDO:0015161 {source="Orphanet:3316"} ! multiple congenital anomalies/dys id: MONDO:0018044 name: idiopathic hypersomnia def: "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." [Orphanet:33208] -subset: gard_rare {source="GARD:0008737"} +subset: gard_rare {source="GARD:8737"} subset: ordo_disease {source="Orphanet:33208"} synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737] synonym: "primary hypersomnia" EXACT [Orphanet:33208] +xref: GARD:8737 {source="Orphanet:33208"} xref: ICD10CM:F51.1 {source="Orphanet:33208", source="Orphanet:33208/e"} xref: MESH:D020177 {source="MONDO:equivalentTo"} xref: NCIT:C116343 {source="MONDO:equivalentTo"} @@ -348198,10 +362787,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8737/idiopat id: MONDO:0018045 name: Hoyeraal-Hreidarsson syndrome def: "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." [Orphanet:3322] +subset: gard_rare {source="GARD:346"} subset: ordo_disease {source="Orphanet:3322"} synonym: "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia" RELATED [GARD:0000346] synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346] synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322] +xref: GARD:346 {source="Orphanet:3322"} xref: ICD10CM:D61.0 {source="Orphanet:3322/attributed", source="Orphanet:3322/ntbt", source="Orphanet:3322"} xref: MESH:C536068 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} xref: Orphanet:3322 {source="MONDO:equivalentTo"} @@ -348228,9 +362819,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0018047 name: familial thrombomodulin anomalies -subset: gard_rare {source="GARD:0005195"} +subset: gard_rare {source="GARD:5195"} subset: ordo_disease {source="Orphanet:3324"} synonym: "thrombomodulin anomalies, familial" RELATED [GARD:0005195] +xref: GARD:5195 {source="Orphanet:3324"} xref: HGNC:11784 {source="GARD:0005195"} xref: ICD10CM:D68.8 {source="Orphanet:3324/attributed", source="Orphanet:3324/ntbt", source="Orphanet:3324"} xref: MESH:C536900 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"} @@ -348243,6 +362835,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5195/thrombo id: MONDO:0018048 name: heparin-induced thrombocytopenia def: "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." [Orphanet:3325] +subset: gard_rare {source="GARD:2650"} subset: ordo_disease {source="Orphanet:3325"} synonym: "HAT" EXACT ABBREVIATION [Orphanet:3325] synonym: "heparin-associated thrombocytopenia" EXACT [Orphanet:3325] @@ -348250,6 +362843,7 @@ synonym: "heparin-induced thrombocytopenia" EXACT [MONDO:ambiguous] synonym: "heparin-induced thrombocytopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "heparin-induced thrombocytopenia type 2" EXACT [Orphanet:3325] synonym: "HIT" EXACT ABBREVIATION [Orphanet:3325] +xref: GARD:2650 {source="Orphanet:3325"} xref: HP:0011874 {source="MONDO:otherHierarchy"} xref: ICD10CM:D69.5 {source="Orphanet:3325/ntbt", source="Orphanet:3325"} xref: ICD9:289.84 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -348270,7 +362864,7 @@ replaced_by: MONDO:0005055 id: MONDO:0018050 name: tibial aplasia-ectrodactyly syndrome def: "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." [Orphanet:3329] -subset: gard_rare +subset: gard_rare {source="GARD:1369"} subset: ordo_malformation_syndrome {source="Orphanet:3329"} synonym: "aplasia of tibia with ectrodactyly" RELATED [GARD:0001369] synonym: "aplasia of tibia with split-hand/split-foot deformity" EXACT [Orphanet:3329] @@ -348285,6 +362879,7 @@ synonym: "TH-SHFM" EXACT [Orphanet:3329] synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:0001369] synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329] synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329] +xref: GARD:1369 {source="Orphanet:3329"} xref: ICD10CM:Q73.8 {source="Orphanet:3329", source="Orphanet:3329/attributed", source="Orphanet:3329/ntbt"} xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"} xref: UMLS:C1861553 {source="GARD:0001369", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3329"} @@ -348298,7 +362893,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1369/cleft-h id: MONDO:0018051 name: Jessner lymphocytic infiltration of the skin def: "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." [Orphanet:33314] -subset: gard_rare +subset: gard_rare {source="GARD:6940"} subset: ordo_disease {source="Orphanet:33314"} synonym: "benign chronic T-cell infiltrative disorder" RELATED [GARD:0006940] synonym: "benign lymphocytic infiltration" RELATED [GARD:0006940] @@ -348306,6 +362901,7 @@ synonym: "Jessner disease" RELATED [GARD:0006940] synonym: "Jessner-Kanof lymphocytic infiltration of the skin" EXACT [Orphanet:33314] synonym: "Jessner-Kanof syndrome" RELATED [GARD:0006940] synonym: "lymphocytic infiltrate of Jessner" RELATED [GARD:0006940] +xref: GARD:6940 {source="Orphanet:33314"} xref: ICD10CM:L98.6 {source="Orphanet:33314/ntbt", source="Orphanet:33314"} xref: Orphanet:33314 {source="GARD:0006940", source="MONDO:equivalentTo"} xref: UMLS:C0580181 {source="Orphanet:33314", source="MONDO:equivalentTo"} @@ -348324,9 +362920,11 @@ replaced_by: MONDO:0008572 id: MONDO:0018053 name: trichothiodystrophy def: "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)." [Orphanet:33364] +subset: gard_rare {source="GARD:12109"} subset: ordo_disease {source="Orphanet:33364"} synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924] xref: DOID:0111866 {source="MONDO:equivalentTo"} +xref: GARD:12109 {source="Orphanet:33364"} xref: ICD10CM:L67.8 {source="Orphanet:33364/attributed", source="Orphanet:33364/ntbt", source="Orphanet:33364"} xref: MedDRA:10044628 {source="Orphanet:33364/e", source="Orphanet:33364"} xref: MESH:C536559 {source="Orphanet:33364/e", source="Orphanet:33364"} @@ -348348,6 +362946,7 @@ id: MONDO:0018054 name: familial atrial fibrillation def: "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation] comment: Editor note: DO def states this as being in ATFB but this is not correct +subset: gard_rare {source="GARD:9740"} subset: ordo_disease {source="Orphanet:334"} synonym: "ATFB" EXACT ABBREVIATION [DOID:0050650] synonym: "atrial fibrillation autosomal dominant" RELATED [GARD:0009740] @@ -348355,6 +362954,7 @@ synonym: "atrial fibrillation, familial" RELATED [GARD:0009740, OMIMPS:608583] synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740] synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:0050650 {source="MONDO:equivalentTo"} +xref: GARD:9740 {source="Orphanet:334"} xref: ICD10CM:I48.9 {source="Orphanet:334", source="Orphanet:334/attributed", source="Orphanet:334/ntbt"} xref: OMIMPS:608583 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"} @@ -348370,6 +362970,7 @@ property_value: confidence "0.3031550068587101" xsd:double id: MONDO:0018055 name: pediatric hepatocellular carcinoma def: "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." [Orphanet:33402] +subset: gard_rare {source="GARD:9331"} subset: ordo_clinical_subtype {source="Orphanet:33402"} synonym: "childhood carcinoma of liver cell" RELATED [GARD:0009331] synonym: "childhood carcinoma of the liver cell" EXACT [NCIT:C7955] @@ -348390,6 +362991,7 @@ synonym: "pediatric HCC" EXACT [Orphanet:33402] synonym: "pediatric hepatoma" RELATED [GARD:0009331] synonym: "pediatric liver cell carcinoma" RELATED [GARD:0009331] xref: DOID:0070322 {source="MONDO:equivalentTo"} +xref: GARD:9331 {source="Orphanet:33402"} xref: ICD10CM:C22.0 {source="Orphanet:33402/ntbt", source="Orphanet:33402"} xref: NCIT:C7955 {source="DOID:0070322", source="MONDO:equivalentTo"} xref: Orphanet:33402 {source="DOID:0070322", source="MONDO:equivalentTo"} @@ -348402,7 +363004,9 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0018056 name: bullous lichen planus def: "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." [Orphanet:33408] +subset: gard_rare {source="GARD:18808"} subset: ordo_disease {source="Orphanet:33408"} +xref: GARD:18808 {source="Orphanet:33408"} xref: ICD10CM:L43.1 {source="MONDO:equivalentTo", source="Orphanet:33408", source="Orphanet:33408/e"} xref: MedDRA:10056960 {source="Orphanet:33408", source="Orphanet:33408/e"} xref: NCIT:C34778 {source="MONDO:equivalentTo"} @@ -348421,11 +363025,12 @@ replaced_by: MONDO:0005988 id: MONDO:0018058 name: tracheal agenesis def: "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." [Orphanet:3346] -subset: gard_rare {source="GARD:0005233"} +subset: gard_rare {source="GARD:5233"} subset: ordo_morphological_anomaly {source="Orphanet:3346"} synonym: "congenital absence of trachea" EXACT [NCIT:C35376] synonym: "congenital tracheal agenesis" RELATED [GARD:0005233] synonym: "tracheal absence" EXACT [NCIT:C35376] +xref: GARD:5233 {source="Orphanet:3346"} xref: ICD10CM:Q32.1 {source="Orphanet:3346/ntbt", source="Orphanet:3346"} xref: MESH:C536975 {source="Orphanet:3346", source="MONDO:equivalentTo", source="Orphanet:3346/e"} xref: NCIT:C35376 {source="MONDO:equivalentTo"} @@ -348443,10 +363048,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5233/trachea id: MONDO:0018059 name: meningococcal meningitis def: "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." [Orphanet:33475] +subset: gard_rare {source="GARD:18809"} subset: ordo_disease {source="Orphanet:33475"} xref: DOID:0080176 {source="MONDO:equivalentTo"} xref: DOID:9929 {source="EFO:1001040"} xref: EFO:1001040 {source="MONDO:equivalentTo"} +xref: GARD:18809 {source="Orphanet:33475"} xref: ICD10CM:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="EFO:1001040"} xref: ICD10EXP:A39.0+ {source="Orphanet:33475/e", source="Orphanet:33475"} xref: ICD10EXP:G01* {source="Orphanet:33475/e", source="Orphanet:33475"} @@ -348464,10 +363071,11 @@ is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:33475"} ! infect id: MONDO:0018060 name: congenital fibrinogen deficiency def: "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." [Orphanet:335] -subset: gard_rare {source="GARD:0002320"} +subset: gard_rare {source="GARD:2320"} subset: ordo_disease {source="Orphanet:335"} synonym: "congenital fibrinogen deficiency" EXACT CLINGEN_PREFERRED [] synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320] +xref: GARD:2320 {source="Orphanet:335"} xref: ICD10CM:D68.2 {source="Orphanet:335", source="Orphanet:335/attributed", source="Orphanet:335/ntbt"} xref: Orphanet:335 {source="MONDO:equivalentTo"} xref: UMLS:C2062367 {source="GARD:0002320", source="MONDO:notFoundInDiseaseSubset"} @@ -348479,10 +363087,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2320/fibrino id: MONDO:0018061 name: trichodermodysplasia-dental alterations syndrome def: "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." [Orphanet:3353] +subset: gard_rare {source="GARD:4369"} subset: ordo_malformation_syndrome {source="Orphanet:3353"} synonym: "Pinheiro Freire-Maia Miranda syndrome" RELATED [GARD:0004369] synonym: "Pinheiro-Freire Maia-Miranda syndrome" EXACT [Orphanet:3353] synonym: "Trichodermodysplasia with dental alterations" RELATED [GARD:0004369] +xref: GARD:4369 {source="Orphanet:3353"} xref: MESH:C537402 {source="MONDO:equivalentTo"} xref: Orphanet:3353 {source="MONDO:equivalentTo"} xref: UMLS:C2931485 {source="Orphanet:3353", source="MONDO:equivalentTo"} @@ -348506,6 +363116,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5376/trueb-b id: MONDO:0018063 name: nodular non-suppurative panniculitis def: "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." [Orphanet:33577] +subset: gard_rare {source="GARD:7879"} subset: ordo_disease {source="Orphanet:33577"} synonym: "idiopathic lobular panniculitis" EXACT [Orphanet:33577] synonym: "idiopathic nodular panniculitis" EXACT [Orphanet:33577] @@ -348522,6 +363133,7 @@ synonym: "Weber-Christian disease" EXACT [DOID:1525, Orphanet:33577] synonym: "Weber-Christian panniculitis" EXACT [Orphanet:33577] xref: DOID:1525 {source="MONDO:equivalentTo", source="EFO:1000742"} xref: EFO:1000742 {source="MONDO:equivalentTo"} +xref: GARD:7879 {source="Orphanet:33577"} xref: ICD10CM:M35.6 {source="Orphanet:33577", source="Orphanet:33577/e", source="DOID:1525"} xref: MedDRA:10047883 {source="Orphanet:33577", source="Orphanet:33577/e"} xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"} @@ -348537,9 +363149,11 @@ is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disorder id: MONDO:0018064 name: trigonocephaly-broad thumbs syndrome def: "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." [Orphanet:3365] +subset: gard_rare {source="GARD:2756"} subset: ordo_malformation_syndrome {source="Orphanet:3365"} synonym: "Hunter Rudd Hoffmann syndrome" RELATED [GARD:0002756] synonym: "Hunter-Rudd-Hoffmann syndrome" EXACT [Orphanet:3365] +xref: GARD:2756 {source="Orphanet:3365"} xref: ICD10CM:Q87.0 {source="Orphanet:3365", source="Orphanet:3365/attributed", source="Orphanet:3365/ntbt"} xref: Orphanet:3365 {source="MONDO:equivalentTo"} xref: SCTID:719949001 {source="MONDO:equivalentTo"} @@ -348551,9 +363165,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018065 name: isolated trigonocephaly def: "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." [Orphanet:3366] +subset: gard_rare {source="GARD:16626"} subset: ordo_morphological_anomaly {source="Orphanet:3366"} synonym: "non-syndromic metopic craniosynostosis" EXACT [Orphanet:3366] synonym: "nonsyndromic trigonocephaly" EXACT [MONDO:patterns/isolated] +xref: GARD:16626 {source="Orphanet:3366"} xref: ICD10CM:Q75.0 {source="Orphanet:3366/ntbt", source="Orphanet:3366", source="Orphanet:3366/inclusion"} xref: OMIMPS:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="MONDO:equivalentTo"} @@ -348571,7 +363187,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:190440"} ! inheri id: MONDO:0018066 name: trisomy X def: "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." [Orphanet:3375] -subset: gard_rare +subset: gard_rare {source="GARD:5672"} subset: ordo_malformation_syndrome {source="Orphanet:3375"} synonym: "47 XXX syndrome" RELATED [GARD:0005672] synonym: "47,XXX" EXACT [NCIT:C129718] @@ -348584,6 +363200,7 @@ synonym: "Triplo-X syndrome" EXACT [Orphanet:3375] synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375] synonym: "trisomy X" EXACT [GARD:0005672] synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375] +xref: GARD:5672 {source="Orphanet:3375"} xref: ICD10CM:Q97.0 {source="Orphanet:3375", source="Orphanet:3375/e", source="Orphanet:3375/specific"} xref: MESH:C535318 {source="MONDO:equivalentTo"} xref: MESH:D014314 {source="Orphanet:3375", source="Orphanet:3375/e"} @@ -348601,11 +363218,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5672/47-xxx- id: MONDO:0018067 name: triploidy def: "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/5295/triploidy] -subset: gard_rare {source="GARD:0005295"} +subset: gard_rare {source="GARD:5295"} subset: ordo_malformation_syndrome {source="Orphanet:3376"} synonym: "chromosome triploidy syndrome" RELATED [GARD:0005295] synonym: "triploid syndrome" RELATED [GARD:0005295] synonym: "triploidy syndrome" RELATED [GARD:0005295] +xref: GARD:5295 {source="Orphanet:3376"} xref: ICD10CM:Q92.7 {source="Orphanet:3376", source="Orphanet:3376/attributed", source="Orphanet:3376/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057885 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} @@ -348621,6 +363239,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5295/triploi id: MONDO:0018068 name: trisomy 13 def: "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." [Orphanet:3378] +subset: gard_rare {source="GARD:7341"} subset: ordo_malformation_syndrome {source="Orphanet:3378"} synonym: "chromosome 13, trisomy 13 complete" RELATED [GARD:0007341] synonym: "D trisomy syndrome (formerly)" RELATED [GARD:0007341] @@ -348630,6 +363249,7 @@ synonym: "Patau's syndrome" EXACT [DOID:11665, ICD9CM:758.1] synonym: "trisomy 13" EXACT [DOID:11665] synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378] xref: DOID:11665 {source="MONDO:equivalentTo"} +xref: GARD:7341 {source="Orphanet:3378"} xref: ICD10CM:Q91.4 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} xref: ICD10CM:Q91.5 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} xref: ICD10CM:Q91.6 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} @@ -348664,11 +363284,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/55 id: MONDO:0018069 name: distal trisomy 17q def: "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." [Orphanet:3379] +subset: gard_rare {source="GARD:18794"} subset: ordo_malformation_syndrome {source="Orphanet:3379"} synonym: "distal duplication 17q" EXACT [Orphanet:3379] synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379] synonym: "telomeric duplication 17q" EXACT [Orphanet:3379] synonym: "trisomy 17qter" EXACT [Orphanet:3379] +xref: GARD:18794 {source="Orphanet:3379"} xref: MESH:C536579 {source="Orphanet:3379", source="Orphanet:3379/e"} xref: Orphanet:3379 {source="MONDO:equivalentTo"} xref: SCTID:766051001 {source="MONDO:equivalentTo"} @@ -348682,7 +363304,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018070 name: familial multiple fibrofolliculoma def: "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." [Orphanet:338] -subset: gard_rare {source="GARD:0003831"} subset: ordo_disease {source="Orphanet:338"} synonym: "multiple fibrofolliculoma familial" RELATED [GARD:0003831] xref: Orphanet:338 {source="MONDO:equivalentObsolete"} @@ -348703,6 +363324,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3831/multipl id: MONDO:0018071 name: trisomy 18 def: "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." [Orphanet:3380] +subset: gard_rare {source="GARD:6321"} subset: ordo_malformation_syndrome {source="Orphanet:3380"} synonym: "18 trisomy" RELATED [GARD:0006321] synonym: "chromosome 18 duplication" EXACT [Orphanet:3380] @@ -348715,6 +363337,7 @@ synonym: "trisomy 18" EXACT [DOID:1085] synonym: "trisomy E (formerly)" RELATED [GARD:0006321] synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380] xref: DOID:1085 {source="MONDO:equivalentTo"} +xref: GARD:6321 {source="Orphanet:3380"} xref: ICD10CM:Q91.0 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} xref: ICD10CM:Q91.1 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} xref: ICD10CM:Q91.2 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} @@ -348744,6 +363367,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018072 name: persistent truncus arteriosus def: "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." [NCIT:C98880] +subset: gard_rare {source="GARD:16627"} subset: ordo_morphological_anomaly {source="Orphanet:3384"} synonym: "common aorticopulmonary trunk" EXACT [Orphanet:3384] synonym: "common arterial trunk" EXACT [Orphanet:3384] @@ -348752,6 +363376,7 @@ synonym: "persistent truncus arteriosus" EXACT [NCIT:C98880] synonym: "persistent truncus arteriosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "TAC" EXACT ABBREVIATION [Orphanet:3384] synonym: "truncus arteriosus" EXACT [NCIT:C98880] +xref: GARD:16627 {source="Orphanet:3384"} xref: ICD10CM:Q20.0 {source="Orphanet:3384/specific", source="Orphanet:3384/e", source="Orphanet:3384"} xref: MESH:D014339 {source="MONDO:equivalentTo"} xref: NCIT:C98880 {source="MONDO:equivalentTo"} @@ -348776,10 +363401,12 @@ id: MONDO:0018075 name: neural tube defect def: "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." [NCIT:C84923] subset: disease_grouping +subset: gard_rare {source="GARD:18796"} subset: ordo_group_of_disorders {source="Orphanet:3388"} synonym: "NTD" EXACT ABBREVIATION [NCIT:C84923] synonym: "spinal dysraphism" EXACT [NCIT:C84923] xref: DOID:0080074 {source="MONDO:equivalentTo"} +xref: GARD:18796 {source="Orphanet:3388"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009436 {source="MONDO:equivalentTo"} xref: NCIT:C84923 {source="MONDO:equivalentTo"} @@ -348796,13 +363423,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0018076 name: tuberculosis def: "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." [NCIT:C3423] -subset: gard_rare {source="GARD:0007827"} +subset: gard_rare {source="GARD:7827"} subset: ordo_disease {source="Orphanet:3389"} synonym: "active tuberculosis" NARROW [NCIT:C3423] synonym: "Kochs disease" RELATED [GARD:0007827] synonym: "TB" RELATED ABBREVIATION [GARD:0007827] synonym: "tuberculosis disease" EXACT [NCIT:C3423] xref: DOID:399 {source="MONDO:equivalentTo"} +xref: GARD:7827 {source="Orphanet:3389"} xref: ICD10CM:A15-A19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.92 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -348831,7 +363459,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7827/tubercu id: MONDO:0018077 name: tularemia def: "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." [https://rarediseases.info.nih.gov/diseases/396/tularemia] -subset: gard_rare {source="GARD:0000396"} +subset: gard_rare {source="GARD:396"} subset: ordo_disease {source="Orphanet:3392"} synonym: "Deerfly fever" RELATED [GARD:0000396] synonym: "Francisella tularensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -348845,6 +363473,7 @@ synonym: "rabbit fever" RELATED [GARD:0000396] synonym: "Yatobyo (Japan)" RELATED [GARD:0000396] xref: DOID:2123 {source="MONDO:equivalentTo"} xref: EFO:1001444 {source="MONDO:equivalentTo"} +xref: GARD:396 {source="Orphanet:3392"} xref: ICD10CM:A21 {source="MONDO:equivalentTo"} xref: ICD10CM:A21.0 {source="Orphanet:3392", source="Orphanet:3392/btnt"} xref: ICD10CM:A21.1 {source="Orphanet:3392", source="Orphanet:3392/btnt"} @@ -348881,7 +363510,7 @@ id: MONDO:0018078 name: soft tissue sarcoma def: "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." [NCIT:C9306] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:4898"} subset: ordo_group_of_disorders {source="Orphanet:3394"} synonym: "connective tissue sarcoma" EXACT [NCIT:C9306] synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394] @@ -348895,6 +363524,7 @@ synonym: "sarcoma of the soft tissue" EXACT [NCIT:C9306] synonym: "soft part sarcoma" EXACT [Orphanet:3394] synonym: "soft tissue sarcoma" EXACT [NCIT:C9306] xref: EFO:1001968 {source="MONDO:equivalentTo"} +xref: GARD:4898 {source="Orphanet:3394"} xref: NCIT:C9306 {source="MONDO:equivalentTo"} xref: Orphanet:3394 {source="MONDO:equivalentTo"} xref: SCTID:424952003 {source="MONDO:equivalentTo"} @@ -348912,6 +363542,7 @@ id: MONDO:0018079 name: thymic epithelial neoplasm def: "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." [NCIT:C6450] subset: disease_grouping +subset: gard_rare {source="GARD:5201"} subset: ordo_group_of_disorders {source="Orphanet:3398"} synonym: "epithelial neoplasm of the Thymus" EXACT [NCIT:C6450] synonym: "epithelial neoplasm of Thymus" EXACT [NCIT:C6450] @@ -348929,6 +363560,7 @@ synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450] synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450] synonym: "Thymus epithelial tumour" EXACT OMO:0003005 [] +xref: GARD:5201 {source="Orphanet:3398"} xref: ICD10CM:C37 {source="Orphanet:3398", source="Orphanet:3398/ntbt"} xref: ICD10CM:D15.0 {source="Orphanet:3398", source="Orphanet:3398/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C536905 {source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} @@ -348946,9 +363578,11 @@ id: MONDO:0018080 name: obsolete rare germ cell tumor def: "OBSOLETE. Rare germ cell tumor." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:18797"} subset: ordo_group_of_disorders {source="Orphanet:3399"} synonym: "germ cell tumor" BROAD [Orphanet:3399] synonym: "rare germ cell tumor" EXACT [MONDO:patterns/rare] +xref: GARD:18797 {source="Orphanet:3399", source="MONDO:obsoleteEquivalent"} xref: Orphanet:3399 {source="MONDO:obsoleteEquivalent"} xref: SCTID:402878003 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0740345 {source="Orphanet:3399"} @@ -348960,9 +363594,11 @@ replaced_by: MONDO:0005040 id: MONDO:0018081 name: hemorrhagic fever-renal syndrome def: "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." [Orphanet:340] +subset: gard_rare {source="GARD:18689"} subset: ordo_disease {source="Orphanet:340"} synonym: "Hantavirosis" EXACT [Orphanet:340] synonym: "Hantavirus fever" EXACT [Orphanet:340] +xref: GARD:18689 {source="Orphanet:340"} xref: ICD10EXP:A98.5+ {source="Orphanet:340/e", source="Orphanet:340"} xref: ICD10EXP:N08.0* {source="Orphanet:340/e", source="Orphanet:340"} xref: MedDRA:10023484 {source="Orphanet:340/e", source="Orphanet:340"} @@ -348979,9 +363615,11 @@ relationship: disease_has_infectious_agent NCBITaxon:1980442 ! Orthohantavirus id: MONDO:0018082 name: aorto-ventricular tunnel def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." [Orphanet:3400] +subset: gard_rare {source="GARD:18798"} subset: ordo_morphological_anomaly {source="Orphanet:3400"} synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous] synonym: "aorto-ventricular tunnel (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:18798 {source="Orphanet:3400"} xref: HP:0011627 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q20.8 {source="Orphanet:3400", source="Orphanet:3400/ntbt"} xref: MESH:D000082903 {source="MONDO:equivalentTo"} @@ -348998,10 +363636,12 @@ property_value: IAO:0000589 "aorto-ventricular tunnel (disease)" xsd:string id: MONDO:0018083 name: transient tyrosinemia of the newborn def: "A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." [https://orcid.org/0000-0001-5208-3432, Orphanet:3402] +subset: gard_rare {source="GARD:5388"} subset: ordo_disease {source="Orphanet:3402"} synonym: "transient neonatal tyrosinemia" EXACT [MONDO:cjm] synonym: "transient tyrosinemia of the neonate" EXACT [Orphanet:3402] synonym: "tyrosine-oxidase temporary deficiency" RELATED [GARD:0005388] +xref: GARD:5388 {source="Orphanet:3402"} xref: ICD10CM:P74.5 {source="Orphanet:3402", source="Orphanet:3402/e", source="Orphanet:3402/specific"} xref: Orphanet:3402 {source="MONDO:equivalentTo"} xref: UMLS:CN204402 {source="MONDO:equivalentTo"} @@ -349015,9 +363655,11 @@ id: MONDO:0018084 name: Uhl anomaly def: "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." [Orphanet:3403] comment: Editor note: check xrefs +subset: gard_rare {source="GARD:5393"} subset: ordo_morphological_anomaly {source="Orphanet:3403"} synonym: "parchment right ventricle" RELATED [GARD:0005393] synonym: "Uhl's anomaly" RELATED [GARD:0005393] +xref: GARD:5393 {source="Orphanet:3403"} xref: ICD10CM:Q24.8 {source="Orphanet:3403", source="Orphanet:3403/ntbt"} xref: MedDRA:10048951 {source="Orphanet:3403", source="Orphanet:3403/e"} xref: MESH:C536932 {source="MONDO:equivalentTo", source="Orphanet:3403", source="Orphanet:3403/e"} @@ -349030,10 +363672,12 @@ property_value: confidence "0.23456790123456783" xsd:double id: MONDO:0018085 name: umbilical cord ulceration-intestinal atresia syndrome def: "Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage." [Orphanet:3405] +subset: gard_rare {source="GARD:5403"} subset: ordo_malformation_syndrome {source="Orphanet:3405"} synonym: "umbilical cord ulcer with intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical cord ulceration and intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical ulceration and intestinal atresia" RELATED [GARD:0005403] +xref: GARD:5403 {source="Orphanet:3405"} xref: MESH:C536938 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} xref: Orphanet:3405 {source="MONDO:equivalentTo"} xref: UMLS:C2931371 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} @@ -349046,10 +363690,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018086 name: ulerythema ophryogenesis def: "Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." [Orphanet:3406] -subset: gard_rare {source="GARD:0005395"} +subset: gard_rare {source="GARD:5395"} subset: ordo_disease {source="Orphanet:3406"} synonym: "keratosis pilaris affecting the follicles of the eyebrow hairs" RELATED [GARD:0005395] synonym: "type of genodermatosis" RELATED [GARD:0005395] +xref: GARD:5395 {source="Orphanet:3406"} xref: Orphanet:3406 {source="MONDO:equivalentTo"} xref: UMLS:C0263429 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005395"} is_a: MONDO:0018855 {source="Orphanet:3406"} ! keratosis pilaris atrophicans @@ -349061,7 +363706,7 @@ id: MONDO:0018087 name: viral hemorrhagic fever def: "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." [https://www.cdc.gov/vhf/index.html] subset: disease_grouping -subset: gard_rare {source="GARD:0005494"} +subset: gard_rare {source="GARD:5494"} subset: ordo_group_of_disorders {source="Orphanet:341"} synonym: "haemorrhagic fever" BROAD [https://medlineplus.gov/hemorrhagicfevers.html, https://orcid.org/0000-0002-6315-0263] synonym: "haemorrhagic fevers, viral" EXACT [https://orcid.org/0000-0002-6315-0263] @@ -349070,6 +363715,7 @@ synonym: "hemorrhagic fevers" BROAD [https://orcid.org/0000-0002-6315-0263] synonym: "VHF" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263] synonym: "VHFs" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263] synonym: "viral haemorrhagic fever" EXACT [https://orcid.org/0000-0002-6315-0263] +xref: GARD:5494 {source="Orphanet:341"} xref: MESH:D006482 {source="MONDO:equivalentTo"} xref: NCIT:C36170 {source="MONDO:equivalentTo"} xref: Orphanet:341 {source="MONDO:equivalentTo"} @@ -349087,6 +363733,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5494/viral-h id: MONDO:0018088 name: familial Mediterranean fever def: "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." [Orphanet:342] +subset: gard_rare {source="GARD:6421"} subset: ordo_disease {source="Orphanet:342"} synonym: "benign paroxysmal peritonitis" EXACT [DOID:2987, Orphanet:342] synonym: "benign recurrent polyserositis" EXACT [Orphanet:342] @@ -349094,6 +363741,7 @@ synonym: "familial paroxysmal polyserositis" EXACT [Orphanet:342] synonym: "FMF" EXACT ABBREVIATION [Orphanet:342] synonym: "periodic disease" EXACT [Orphanet:342] xref: DOID:2987 {source="MONDO:equivalentTo"} +xref: GARD:6421 {source="Orphanet:342"} xref: ICD10CM:E85.0 {source="DOID:2987", source="Orphanet:342/ntbt", source="Orphanet:342/inclusion", source="Orphanet:342"} xref: ICD9:277.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2987"} xref: MedDRA:10016207 {source="Orphanet:342/e", source="Orphanet:342"} @@ -349114,7 +363762,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018089 name: double outlet right ventricle def: "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." [Orphanet:3426] -subset: gard_rare +subset: gard_rare {source="GARD:1908"} subset: ordo_morphological_anomaly {source="Orphanet:3426"} synonym: "Dextrotransposition of aorta" EXACT [DOID:6406] synonym: "DORV" EXACT ABBREVIATION [Orphanet:3426] @@ -349122,6 +363770,7 @@ synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD9CM:745.11] synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" RELATED EXCLUDE [DOID:6406] synonym: "Taussig-Bing syndrome or defect" RELATED EXCLUDE [DOID:6406] xref: DOID:6406 {source="MONDO:equivalentTo"} +xref: GARD:1908 {source="Orphanet:3426"} xref: ICD10CM:Q20.1 {source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"} xref: MedDRA:10013611 {source="Orphanet:3426", source="Orphanet:3426/e"} xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/e"} @@ -349141,11 +363790,12 @@ property_value: confidence "0.6726012650301525" xsd:double id: MONDO:0018090 name: double outlet left ventricle def: "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." [Orphanet:3427] -subset: gard_rare +subset: gard_rare {source="GARD:1907"} subset: ordo_morphological_anomaly {source="Orphanet:3427"} synonym: "DOLV" EXACT ABBREVIATION [Orphanet:3427] synonym: "Double outlet left ventricle" EXACT [MONDO:ambiguous] synonym: "double outlet left ventricle (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:1907 {source="Orphanet:3427"} xref: HP:0011581 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q20.2 {source="Orphanet:3427", source="Orphanet:3427/e"} xref: ICD9:745.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -349159,12 +363809,13 @@ property_value: IAO:0000589 "double outlet left ventricle (disease)" xsd:string id: MONDO:0018091 name: microcephaly-brachydactyly-kyphoscoliosis syndrome def: "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." [Orphanet:3433] -subset: gard_rare +subset: gard_rare {source="GARD:5490"} subset: ordo_malformation_syndrome {source="Orphanet:3433"} synonym: "microcephaly brachydactyly kyphoscoliosis" RELATED [GARD:0005490] synonym: "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" RELATED [GARD:0005490] synonym: "Viljoen Kallis Voges syndrome" RELATED [GARD:0005490] synonym: "Viljoen-Kallis-Voges syndrome" EXACT [Orphanet:3433] +xref: GARD:5490 {source="Orphanet:3433"} xref: ICD10CM:Q87.8 {source="Orphanet:3433", source="Orphanet:3433/attributed", source="Orphanet:3433/ntbt"} xref: MESH:C536349 {source="MONDO:equivalentTo"} xref: Orphanet:3433 {source="GARD:0005490", source="MONDO:equivalentTo"} @@ -349186,7 +363837,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5490/viljoen id: MONDO:0018092 name: Vogt-Koyanagi-Harada disease def: "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." [Orphanet:3437] -subset: gard_rare {source="GARD:0007862"} +subset: gard_rare {source="GARD:7862"} subset: ordo_disease {source="Orphanet:3437"} synonym: "Harada's disease" EXACT [DOID:12297, ICD9CM:363.22] synonym: "Uveomenigitic syndrome" EXACT [Orphanet:3437] @@ -349196,6 +363847,7 @@ synonym: "VKH syndrome" RELATED [GARD:0007862] synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM:364.24] synonym: "Vogt-Koyanagi-Harada syndrome" RELATED [GARD:0007862] xref: DOID:12297 {source="MONDO:equivalentTo"} +xref: GARD:7862 {source="Orphanet:3437"} xref: ICD10CM:H20.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"} xref: ICD10CM:H20.82 {source="DOID:12297"} xref: ICD10CM:H30.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"} @@ -349224,10 +363876,11 @@ id: MONDO:0018093 name: arbovirus fever def: "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." [Orphanet:344] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:18690"} subset: ordo_group_of_disorders {source="Orphanet:344"} synonym: "Arbovirosis" RELATED [GARD:0000432] synonym: "arbovirus fever" EXACT [GARD:0000432] +xref: GARD:18690 {source="Orphanet:344"} xref: Orphanet:3413 {source="GARD:0000432"} xref: Orphanet:344 {source="MONDO:equivalentTo"} xref: UMLS:CN227261 {source="MONDO:equivalentTo"} @@ -349240,6 +363893,7 @@ id: MONDO:0018094 name: Waardenburg syndrome def: "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." [Orphanet:3440] subset: clingen +subset: gard_rare {source="GARD:5525"} subset: ordo_disease {source="Orphanet:3440"} synonym: "Mende syndrome" RELATED [GARD:0005525] synonym: "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" RELATED [GARD:0005525] @@ -349249,6 +363903,7 @@ synonym: "Waardenburg syndrome" EXACT CLINGEN_PREFERRED [DOID:9258] synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258] xref: DOID:9258 {source="MONDO:equivalentTo"} +xref: GARD:5525 {source="Orphanet:3440"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:3440/index", source="Orphanet:3440/ntbt", source="Orphanet:3440"} xref: MedDRA:10069203 {source="Orphanet:3440/e", source="Orphanet:3440"} xref: MESH:D014849 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:3440/e", source="MONDO:equivalentTo", source="DOID:9258", source="Orphanet:3440"} @@ -349281,7 +363936,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018095 name: Weaver-Williams syndrome def: "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." [Orphanet:3448] +subset: gard_rare {source="GARD:5545"} subset: ordo_malformation_syndrome {source="Orphanet:3448"} +xref: GARD:5545 {source="Orphanet:3448"} xref: ICD10CM:Q87.8 {source="Orphanet:3448", source="Orphanet:3448/attributed", source="Orphanet:3448/ntbt"} xref: Orphanet:3448 {source="MONDO:equivalentTo"} xref: UMLS:CN204431 {source="MONDO:equivalentTo"} @@ -349294,6 +363951,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018096 name: Weill-Marchesani syndrome def: "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." [Orphanet:3449] +subset: gard_rare {source="GARD:4936"} subset: ordo_malformation_syndrome {source="Orphanet:3449"} synonym: "congenital mesodermal dystrophy" EXACT [DOID:0050475] synonym: "GEMSS syndrome" RELATED EXCLUDE [DOID:0050475] @@ -349305,6 +363963,7 @@ synonym: "spherophakia-brachymorphia syndrome" EXACT [Orphanet:3449] synonym: "WM syndrome" RELATED [GARD:0004936] synonym: "WMS" RELATED ABBREVIATION [GARD:0004936] xref: DOID:0050475 {source="MONDO:equivalentTo"} +xref: GARD:4936 {source="Orphanet:3449"} xref: ICD10CM:Q87.0 {source="Orphanet:3449", source="Orphanet:3449/index", source="Orphanet:3449/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064963 {source="Orphanet:3449", source="Orphanet:3449/e"} @@ -349330,6 +363989,7 @@ id: MONDO:0018097 name: West syndrome def: "West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." [Orphanet:3451] comment: Editor note: check placement of OMIM IDs and EIEE subtypes +subset: gard_rare {source="GARD:7887"} subset: ordo_clinical_syndrome {source="Orphanet:3451"} synonym: "infantile spasms" EXACT [Orphanet:3451] synonym: "Infantile spasms syndrome" RELATED [DOID:0050562] @@ -349339,6 +363999,7 @@ synonym: "West's syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasms" RELATED [GARD:0007887] xref: DOID:0050562 {source="MONDO:equivalentTo"} +xref: GARD:7887 {source="Orphanet:3451"} xref: ICD10CM:G40.4 {source="Orphanet:3451/ntbt", source="Orphanet:3451/inclusion", source="Orphanet:3451"} xref: ICD9:345.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -349419,10 +364080,12 @@ name: corneal dystrophy def: "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." [Orphanet:34533] comment: Editor note: NCIT distinguishes between acquired and genetic subset: disease_grouping +subset: gard_rare {source="GARD:18810"} subset: ordo_group_of_disorders {source="Orphanet:34533"} synonym: "corneal dystrophy" EXACT [MONDO:ambiguous] synonym: "corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2566 {source="MONDO:equivalentTo"} +xref: GARD:18810 {source="Orphanet:34533"} xref: HP:0001131 {source="MONDO:otherHierarchy"} xref: ICD10CM:H18.5 {source="Orphanet:34533", source="DOID:2566", source="Orphanet:34533/e", source="Orphanet:34533/specific"} xref: ICD10CM:H18.50 {source="DOID:2566"} @@ -349449,12 +364112,13 @@ property_value: IAO:0000589 "corneal dystrophy (disease)" xsd:string id: MONDO:0018103 name: Quinquaud's folliculitis decalvans def: "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." [Orphanet:346] -subset: gard_rare {source="GARD:0000373"} +subset: gard_rare {source="GARD:373"} subset: ordo_disease {source="Orphanet:346"} synonym: "folliculitis decalvans" RELATED [GARD:0000373] synonym: "Quinquaud's decalvans folliculitis" RELATED [GARD:0000373] synonym: "Quinquaud's disease" RELATED [GARD:0000373] synonym: "Quinquaud’s disease" RELATED [GARD:0000373] +xref: GARD:373 {source="Orphanet:346"} xref: ICD10CM:L66.2 {source="Orphanet:346", source="Orphanet:346/e"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:346 {source="MONDO:equivalentTo"} @@ -349481,6 +364145,7 @@ consider: MONDO:0010201 id: MONDO:0018105 name: Wolfram syndrome def: "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." [Orphanet:3463] +subset: gard_rare {source="GARD:7898"} subset: ordo_disease {source="Orphanet:3463"} synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" EXACT [NCIT:C35133] synonym: "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" EXACT [Orphanet:3463] @@ -349490,6 +364155,7 @@ synonym: "DIDMOAD syndrome" EXACT [Orphanet:3463] synonym: "WFS" EXACT ABBREVIATION [DOID:10632] synonym: "Wolfram syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:10632 {source="MONDO:equivalentTo"} +xref: GARD:7898 {source="Orphanet:3463"} xref: ICD10CM:E13.8 {source="Orphanet:3463", source="Orphanet:3463/attributed", source="Orphanet:3463/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="Orphanet:3463/e"} @@ -349508,6 +364174,7 @@ relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus id: MONDO:0018106 name: hereditary xanthinuria def: "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." [Orphanet:3467] +subset: gard_rare {source="GARD:16628"} subset: ordo_disease {source="Orphanet:3467"} synonym: "classic xanthinuria" EXACT [Orphanet:3467] synonym: "hereditary xanthinuria" EXACT [MONDO:patterns/hereditary] @@ -349517,6 +364184,7 @@ synonym: "xanthine oxidase deficiency" RELATED EXCLUDE [DOID:0060236] synonym: "xanthine stone disease" EXACT [Orphanet:3467] synonym: "xanthinuria" RELATED [DOID:0060236] xref: DOID:0060236 {source="MONDO:equivalentTo"} +xref: GARD:16628 {source="Orphanet:3467"} xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"} xref: ICD10CM:E79.8 {source="Orphanet:3467/inclusion", source="Orphanet:3467/ntbt", source="Orphanet:3467"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -349551,8 +364219,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0018108 name: idiopathic disseminated cytomegalovirus infection +subset: gard_rare {source="GARD:18811"} subset: ordo_disease {source="Orphanet:35062"} synonym: "idiopathic disseminated CMV infection" EXACT [Orphanet:35062] +xref: GARD:18811 {source="Orphanet:35062"} xref: ICD10CM:B25.8 {source="Orphanet:35062", source="Orphanet:35062/ntbt"} xref: Orphanet:35062 {source="MONDO:equivalentTo"} xref: UMLS:CN204469 {source="MONDO:equivalentTo"} @@ -349565,7 +364235,9 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018109 name: fulminant viral hepatitis def: "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." [Orphanet:35063] +subset: gard_rare {source="GARD:18812"} subset: ordo_disease {source="Orphanet:35063"} +xref: GARD:18812 {source="Orphanet:35063"} xref: ICD10CM:K72 {source="Orphanet:35063", source="Orphanet:35063/ntbt"} xref: MedDRA:10019772 xref: Orphanet:35063 {source="MONDO:equivalentTo"} @@ -349597,8 +364269,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018112 name: obsolete isolated scaphocephaly def: "OBSOLETE. Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." [Orphanet:35093] +subset: gard_rare {source="GARD:16633"} synonym: "isolated dolichocephaly" EXACT [Orphanet:35093] synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093] +xref: GARD:16633 {source="MONDO:obsoleteEquivalent", source="Orphanet:35093"} xref: ICD10CM:Q75.0 {source="Orphanet:35093/attributed", source="Orphanet:35093/ntbt", source="Orphanet:35093"} xref: Orphanet:35093 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0265534 {source="Orphanet:35093", source="MONDO:notFoundInDiseaseSubset"} @@ -349631,7 +364305,9 @@ is_obsolete: true id: MONDO:0018114 name: obsolete isolated brachycephaly def: "OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099] +subset: gard_rare {source="GARD:16634"} synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099] +xref: GARD:16634 {source="MONDO:obsoleteEquivalent", source="Orphanet:35099"} xref: ICD10CM:Q75.0 {source="Orphanet:35099/attributed", source="Orphanet:35099/ntbt", source="Orphanet:35099"} xref: Orphanet:35099 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0221356 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35099"} @@ -349647,8 +364323,10 @@ is_obsolete: true id: MONDO:0018115 name: epidermal nevus syndrome def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [MESH:D054000] +subset: gard_rare {source="GARD:18813"} subset: ordo_disease {source="Orphanet:35125"} synonym: "Epidermal hamartoma syndrome" EXACT [Orphanet:35125] +xref: GARD:18813 {source="Orphanet:35125"} xref: ICD10CM:Q85.8 {source="Orphanet:35125/attributed", source="Orphanet:35125/ntbt", source="Orphanet:35125"} xref: MedDRA:10014985 {source="Orphanet:35125/e", source="Orphanet:35125"} xref: MESH:C536114 {source="Orphanet:35125/e", source="Orphanet:35125"} @@ -349666,11 +364344,13 @@ id: MONDO:0018116 name: galactosemia def: "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." [Orphanet:352] subset: disease_grouping +subset: gard_rare {source="GARD:2424"} subset: ordo_group_of_disorders {source="Orphanet:352"} synonym: "galactosaemia" EXACT [DOID:9870] synonym: "galactose intolerance" EXACT [DOID:9870] synonym: "galactosemia" EXACT [MONDO:0004908] xref: DOID:9870 {source="MONDO:equivalentTo"} +xref: GARD:2424 {source="Orphanet:352"} xref: ICD10CM:E74.2 {source="Orphanet:352/inclusion", source="Orphanet:352/ntbt", source="Orphanet:352"} xref: ICD10CM:E74.21 {source="DOID:9870"} xref: ICD9:271.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9870"} @@ -349699,7 +364379,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:230400"} ! inheri id: MONDO:0018117 name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis subset: disease_grouping +subset: gard_rare {source="GARD:21516"} subset: ordo_group_of_disorders {source="Orphanet:352301"} +xref: GARD:21516 {source="Orphanet:352301"} xref: Orphanet:352301 {source="MONDO:equivalentTo"} xref: UMLS:CN227264 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="Orphanet:352301"} ! inherited lipid metabolism disorder @@ -349708,7 +364390,9 @@ is_a: MONDO:0002525 {source="Orphanet:352301"} ! inherited lipid metabolism diso id: MONDO:0018118 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' +subset: gard_rare {source="GARD:21517"} subset: ordo_group_of_disorders {source="Orphanet:352306"} +xref: GARD:21517 {source="MONDO:obsoleteEquivalent", source="Orphanet:352306"} xref: Orphanet:352306 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227265 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -349720,7 +364404,9 @@ consider: MONDO:0002525 id: MONDO:0018119 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' +subset: gard_rare {source="GARD:21518"} subset: ordo_group_of_disorders {source="Orphanet:352309"} +xref: GARD:21518 {source="MONDO:obsoleteEquivalent", source="Orphanet:352309"} xref: Orphanet:352309 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227266 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -349732,7 +364418,9 @@ consider: MONDO:0002525 id: MONDO:0018120 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' +subset: gard_rare {source="GARD:21519"} subset: ordo_group_of_disorders {source="Orphanet:352312"} +xref: GARD:21519 {source="MONDO:obsoleteEquivalent", source="Orphanet:352312"} xref: Orphanet:352312 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227267 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -349745,11 +364433,13 @@ id: MONDO:0018121 name: mitochondrial DNA maintenance syndrome def: "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:21520"} subset: ordo_group_of_disorders {source="Orphanet:352456"} synonym: "inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn mitochondrial genome maintenance disorder" EXACT [] synonym: "mtDNA maintenance syndrome" EXACT [Orphanet:352456] synonym: "rare inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:21520 {source="Orphanet:352456"} xref: Orphanet:352456 {source="MONDO:equivalentTo"} xref: UMLS:CN204491 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:352456"} ! mitochondrial oxidative phosphorylation disorder @@ -349770,9 +364460,11 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:352487"} ! X-l id: MONDO:0018123 name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome def: "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." [Orphanet:352530] +subset: gard_rare {source="GARD:21521"} subset: ordo_disease {source="Orphanet:352530"} synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530] synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:21521 {source="Orphanet:352530"} xref: ICD10CM:Q04.8 {source="Orphanet:352530/attributed", source="Orphanet:352530/ntbt", source="Orphanet:352530"} xref: Orphanet:352530 {source="MONDO:equivalentTo"} xref: UMLS:CN204496 {source="MONDO:equivalentTo"} @@ -349785,13 +364477,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018124 name: Oncogenic osteomalacia def: "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." [https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia] -subset: gard_rare {source="GARD:0009652"} +subset: gard_rare {source="GARD:9652"} subset: ordo_disease {source="Orphanet:352540"} synonym: "Oncogenic hypophosphatemic osteomalacia" EXACT [Orphanet:352540] synonym: "OO" RELATED ABBREVIATION [GARD:0009652] synonym: "OOM" RELATED ABBREVIATION [GARD:0009652] synonym: "TIO" EXACT ABBREVIATION [Orphanet:352540] synonym: "tumor-induced osteomalacia" EXACT [Orphanet:352540] +xref: GARD:9652 {source="Orphanet:352540"} xref: ICD10CM:M83.8 {source="Orphanet:352540", source="Orphanet:352540/ntbt"} xref: MESH:C537751 {source="MONDO:equivalentTo"} xref: NCIT:C67235 {source="MONDO:equivalentTo"} @@ -349809,8 +364502,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9652/oncogen id: MONDO:0018125 name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation def: "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." [Orphanet:352587] +subset: gard_rare {source="GARD:21522"} subset: ordo_disease {source="Orphanet:352587"} synonym: "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" EXACT [Orphanet:352587] +xref: GARD:21522 {source="Orphanet:352587"} xref: ICD10CM:Q04.8 {source="Orphanet:352587", source="Orphanet:352587/attributed", source="Orphanet:352587/ntbt"} xref: Orphanet:352587 {source="MONDO:equivalentTo"} xref: UMLS:CN204502 {source="MONDO:equivalentTo"} @@ -349820,9 +364515,11 @@ is_a: MONDO:0015653 {source="Orphanet:352587"} ! monogenic epilepsy id: MONDO:0018126 name: progressive myoclonic epilepsy with dystonia def: "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." [Orphanet:352596] +subset: gard_rare {source="GARD:17522"} subset: ordo_disease {source="Orphanet:352596"} synonym: "PMED" EXACT ABBREVIATION [Orphanet:352596] synonym: "progressive myoclonus epilepsy with dystonia" EXACT [Orphanet:352596] +xref: GARD:17522 {source="Orphanet:352596"} xref: ICD10CM:G40.3 {source="Orphanet:352596/attributed", source="Orphanet:352596/ntbt", source="Orphanet:352596"} xref: Orphanet:352596 {source="MONDO:equivalentTo"} xref: SCTID:763349002 {source="MONDO:equivalentTo"} @@ -349834,9 +364531,11 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0018127 name: 16q24.1 microdeletion syndrome def: "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." [Orphanet:352629] +subset: gard_rare {source="GARD:21523"} subset: ordo_disease {source="Orphanet:352629"} synonym: "Del(16)(q24.1)" EXACT [Orphanet:352629] synonym: "monosomy 16q24.1" EXACT [Orphanet:352629] +xref: GARD:21523 {source="Orphanet:352629"} xref: ICD10CM:Q93.5 {source="Orphanet:352629/attributed", source="Orphanet:352629/ntbt", source="Orphanet:352629"} xref: Orphanet:352629 {source="MONDO:equivalentTo"} xref: UMLS:CN204505 {source="MONDO:equivalentTo"} @@ -349851,8 +364550,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018128 name: phalangeal microgeodic syndrome def: "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." [Orphanet:352636] +subset: gard_rare {source="GARD:21524"} subset: ordo_disease {source="Orphanet:352636"} synonym: "phalangeal osteolysis" EXACT [Orphanet:352636] +xref: GARD:21524 {source="Orphanet:352636"} xref: ICD10CM:M89.5 {source="Orphanet:352636", source="Orphanet:352636/attributed", source="Orphanet:352636/ntbt"} xref: Orphanet:352636 {source="MONDO:equivalentTo"} xref: UMLS:CN204506 {source="MONDO:equivalentTo"} @@ -349862,8 +364563,10 @@ is_a: MONDO:0019707 {source="Orphanet:352636"} ! primary osteolysis id: MONDO:0018129 name: autosomal recessive cerebellar ataxia with late-onset spasticity def: "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." [Orphanet:352641] +subset: gard_rare {source="GARD:21525"} subset: ordo_disease {source="Orphanet:352641"} synonym: "autosomal recessive cerebellar ataxia due to GBA2 deficiency" EXACT [Orphanet:352641] +xref: GARD:21525 {source="Orphanet:352641"} xref: ICD10CM:G11.8 {source="Orphanet:352641/attributed", source="Orphanet:352641/ntbt", source="Orphanet:352641"} xref: Orphanet:352641 {source="MONDO:equivalentTo"} xref: SCTID:763348005 {source="MONDO:equivalentTo"} @@ -349875,7 +364578,9 @@ is_a: MONDO:0020044 {source="Orphanet:352641"} ! autosomal recessive metabolic c id: MONDO:0018130 name: brain dopamine-serotonin vesicular transport disease def: "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." [Orphanet:352649] +subset: gard_rare {source="GARD:13594"} subset: ordo_disease {source="Orphanet:352649"} +xref: GARD:13594 {source="Orphanet:352649"} xref: ICD10CM:G25.8 {source="Orphanet:352649/attributed", source="Orphanet:352649/ntbt", source="Orphanet:352649"} xref: Orphanet:352649 {source="MONDO:equivalentTo"} xref: SCTID:717942003 {source="MONDO:equivalentTo"} @@ -349887,9 +364592,11 @@ relationship: excluded_subClassOf MONDO:0018329 {source="Orphanet:352649"} ! obs [Term] id: MONDO:0018131 name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion +subset: gard_rare {source="GARD:21526"} subset: ordo_etiological_subtype {source="Orphanet:352665"} synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665] synonym: "Del(9)(q21)" EXACT [Orphanet:352665] +xref: GARD:21526 {source="Orphanet:352665"} xref: ICD10CM:Q93.5 {source="Orphanet:352665", source="Orphanet:352665/attributed", source="Orphanet:352665/ntbt"} xref: Orphanet:352665 {source="MONDO:equivalentTo"} xref: UMLS:CN204512 {source="MONDO:equivalentTo"} @@ -349904,11 +364611,12 @@ id: MONDO:0018132 name: obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies def: "OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." [Orphanet:352687] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: muscular dystrophy-dystroglycanopathy' -subset: gard_rare {source="GARD:0012588"} +subset: gard_rare {source="GARD:12588"} subset: ordo_group_of_disorders {source="Orphanet:352687"} synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [Orphanet:352687] synonym: "MDDGA" EXACT ABBREVIATION [Orphanet:352687] xref: DOID:0111229 {source="MONDO:obsoleteEquivalent"} +xref: GARD:12588 {source="MONDO:obsoleteEquivalent", source="Orphanet:352687"} xref: Orphanet:352687 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -349921,10 +364629,12 @@ consider: MONDO:0018276 id: MONDO:0018133 name: attenuated Chédiak-Higashi syndrome def: "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." [Orphanet:352723] +subset: gard_rare {source="GARD:21527"} subset: ordo_disease {source="Orphanet:352723"} synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723] +xref: GARD:21527 {source="Orphanet:352723"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:352723/attributed", source="Orphanet:352723/ntbt", source="Orphanet:352723"} xref: Orphanet:352723 {source="MONDO:equivalentTo"} xref: SCTID:720520009 {source="MONDO:equivalentTo"} @@ -349937,7 +364647,9 @@ is_a: MONDO:0024237 {source="Orphanet:352723"} ! inherited neurodegenerative dis id: MONDO:0018134 name: disorder of melanin metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21528"} subset: ordo_group_of_disorders {source="Orphanet:352728"} +xref: GARD:21528 {source="Orphanet:352728"} xref: Orphanet:352728 {source="MONDO:equivalentTo"} xref: UMLS:CN227269 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:352728"} ! inborn disorder of amino acid and other organic acid metabolism @@ -349946,11 +364658,13 @@ is_a: MONDO:0019189 {source="Orphanet:352728"} ! inborn disorder of amino acid a id: MONDO:0018135 name: oculocutaneous albinism type 1 def: "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." [Orphanet:352731] +subset: gard_rare {source="GARD:4037"} subset: ordo_disease {source="Orphanet:352731"} synonym: "ATN" RELATED ABBREVIATION [GARD:0004037] synonym: "OCA1" EXACT ABBREVIATION [Orphanet:352731] synonym: "oculocutaneous albinism type 1" EXACT CLINGEN_PREFERRED [] synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037] +xref: GARD:4037 {source="Orphanet:352731"} xref: ICD10CM:E70.3 {source="Orphanet:352731", source="Orphanet:352731/attributed", source="Orphanet:352731/ntbt"} xref: MESH:C537728 {source="MONDO:equivalentTo"} xref: Orphanet:352731 {source="MONDO:equivalentTo"} @@ -349965,9 +364679,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018136 name: minimal pigment oculocutaneous albinism type 1 def: "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." [Orphanet:352734] +subset: gard_rare {source="GARD:21529"} subset: ordo_clinical_subtype {source="Orphanet:352734"} synonym: "MP OCA type 1" EXACT [Orphanet:352734] synonym: "OCA1-MP" EXACT [Orphanet:352734] +xref: GARD:21529 {source="Orphanet:352734"} xref: ICD10CM:E70.3 {source="Orphanet:352734/attributed", source="Orphanet:352734/ntbt", source="Orphanet:352734"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:352734 {source="MONDO:equivalentTo"} @@ -349979,9 +364695,11 @@ is_a: MONDO:0018135 {source="Orphanet:352734"} ! oculocutaneous albinism type 1 id: MONDO:0018137 name: temperature-sensitive oculocutaneous albinism type 1 def: "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." [Orphanet:352737] +subset: gard_rare {source="GARD:17530"} subset: ordo_clinical_subtype {source="Orphanet:352737"} synonym: "OCA1-TS" EXACT [Orphanet:352737] synonym: "TS OCA type 1" EXACT [Orphanet:352737] +xref: GARD:17530 {source="Orphanet:352737"} xref: ICD10CM:E70.3 {source="Orphanet:352737/attributed", source="Orphanet:352737/ntbt", source="Orphanet:352737"} xref: Orphanet:352737 {source="MONDO:equivalentTo"} xref: UMLS:C1847132 {source="MONDO:equivalentTo", source="Orphanet:352737"} @@ -350035,9 +364753,11 @@ replaced_by: MONDO:0006687 id: MONDO:0018141 name: pyruvate carboxylase deficiency, infantile form def: "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." [Orphanet:353308] +subset: gard_rare {source="GARD:17536"} subset: ordo_clinical_subtype {source="Orphanet:353308"} synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308] synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308] +xref: GARD:17536 {source="Orphanet:353308"} xref: ICD10CM:E74.4 {source="Orphanet:353308/attributed", source="Orphanet:353308/ntbt", source="Orphanet:353308"} xref: Orphanet:353308 {source="MONDO:equivalentTo"} xref: UMLS:CN204538 {source="MONDO:equivalentTo"} @@ -350050,8 +364770,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018142 name: pyruvate carboxylase deficiency, severe neonatal type def: "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." [Orphanet:353314] +subset: gard_rare {source="GARD:17537"} subset: ordo_clinical_subtype {source="Orphanet:353314"} synonym: "pyruvate carboxylase deficiency type B" EXACT [Orphanet:353314] +xref: GARD:17537 {source="Orphanet:353314"} xref: ICD10CM:E74.4 {source="Orphanet:353314", source="Orphanet:353314/attributed", source="Orphanet:353314/ntbt"} xref: Orphanet:353314 {source="MONDO:equivalentTo"} xref: UMLS:CN204539 {source="MONDO:equivalentTo"} @@ -350064,8 +364786,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018143 name: pyruvate carboxylase deficiency, benign type def: "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." [Orphanet:353320] +subset: gard_rare {source="GARD:17538"} subset: ordo_clinical_subtype {source="Orphanet:353320"} synonym: "pyruvate carboxylase deficiency type C" EXACT [Orphanet:353320] +xref: GARD:17538 {source="Orphanet:353320"} xref: ICD10CM:E74.4 {source="Orphanet:353320/attributed", source="Orphanet:353320/ntbt", source="Orphanet:353320"} xref: Orphanet:353320 {source="MONDO:equivalentTo"} xref: UMLS:CN204540 {source="MONDO:equivalentTo"} @@ -350077,6 +364801,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018144 name: obsolete congenital myasthenic syndromes with glycosylation defect +subset: gard_rare {source="GARD:17539"} +xref: GARD:17539 {source="MONDO:obsoleteEquivalent", source="Orphanet:353327"} xref: ICD10CM:G70.2 {source="Orphanet:353327", source="Orphanet:353327/attributed", source="Orphanet:353327/ntbt"} xref: Orphanet:353327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -350092,10 +364818,12 @@ is_obsolete: true [Term] id: MONDO:0018145 name: congenital retinal arteriovenous communication +subset: gard_rare {source="GARD:21530"} subset: ordo_morphological_anomaly {source="Orphanet:353334"} synonym: "congenital arteriovenous anastomoses of the retina" EXACT [Orphanet:353334] synonym: "congenital arteriovenous communication of the retina" EXACT [Orphanet:353334] synonym: "congenital retinal arteriovenous anastomoses" EXACT [Orphanet:353334] +xref: GARD:21530 {source="Orphanet:353334"} xref: ICD10CM:Q14.8 {source="Orphanet:353334/ntbt", source="Orphanet:353334"} xref: Orphanet:353334 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal disorder @@ -350107,9 +364835,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018146 name: idiopathic macular telangiectasia type 1 def: "A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." [Orphanet:353344] +subset: gard_rare {source="GARD:21531"} subset: ordo_disease {source="Orphanet:353344"} synonym: "aneurysmal telangiectasia" EXACT [Orphanet:353344] synonym: "visible and exudative idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353344] +xref: GARD:21531 {source="Orphanet:353344"} xref: ICD10CM:H35.5 {source="Orphanet:353344/ntbt", source="MONDO:relatedTo", source="Orphanet:353344"} xref: Orphanet:353344 {source="MONDO:equivalentTo"} xref: UMLS:CN204544 {source="MONDO:equivalentTo"} @@ -350120,8 +364850,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018147 name: idiopathic macular telangiectasia type 3 def: "A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:353351] +subset: gard_rare {source="GARD:21532"} subset: ordo_disease {source="Orphanet:353351"} synonym: "occlusive idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353351] +xref: GARD:21532 {source="Orphanet:353351"} xref: ICD10CM:H35.5 {source="Orphanet:353351", source="MONDO:relatedTo", source="Orphanet:353351/ntbt"} xref: Orphanet:353351 {source="MONDO:equivalentTo"} xref: UMLS:CN204545 {source="MONDO:equivalentTo"} @@ -350132,6 +364864,7 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018148 name: vasoproliferative tumor of retina def: "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." [Orphanet:353356] +subset: gard_rare {source="GARD:21533"} subset: ordo_disease {source="Orphanet:353356"} synonym: "retinal vasoproliferative tumor" EXACT [Orphanet:353356] synonym: "retinal vasoproliferative tumour" EXACT OMO:0003005 [] @@ -350142,6 +364875,7 @@ synonym: "vasoproliferative tumour of ocular fundus" EXACT OMO:0003005 [] synonym: "vasoproliferative tumour of the ocular fundus" EXACT OMO:0003005 [] synonym: "vasoproliferative tumour of the retina" RELATED OMO:0003005 [] synonym: "VPTR" EXACT ABBREVIATION [Orphanet:353356] +xref: GARD:21533 {source="Orphanet:353356"} xref: ICD10CM:D31.2 {source="Orphanet:353356/ntbt", source="Orphanet:353356"} xref: Orphanet:353356 {source="MONDO:equivalentTo"} xref: UMLS:CN204546 {source="MONDO:equivalentTo"} @@ -350152,6 +364886,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120", source=" id: MONDO:0018149 name: GM1 gangliosidosis def: "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." [Orphanet:354] +subset: gard_rare {source="GARD:10891"} subset: ordo_disease {source="Orphanet:354"} synonym: "Beta galactosidase 1 deficiency" RELATED [GARD:0010891] synonym: "Beta-galactosidase deficiency" EXACT [DOID:3322] @@ -350166,6 +364901,7 @@ synonym: "GM>1< gangliosidosis" EXACT [DOID:3322] synonym: "Landing disease" EXACT [Orphanet:354] synonym: "Landing syndrome" EXACT [DOID:3322] xref: DOID:3322 {source="MONDO:equivalentTo"} +xref: GARD:10891 {source="Orphanet:354"} xref: ICD10CM:E75.1 {source="Orphanet:354/ntbt", source="Orphanet:354/inclusion", source="Orphanet:354"} xref: ICD10CM:E75.19 {source="DOID:3322"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -350193,6 +364929,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 id: MONDO:0018150 name: Gaucher disease def: "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." [Orphanet:355] +subset: gard_rare {source="GARD:8233"} subset: ordo_disease {source="Orphanet:355"} synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, Orphanet:355] synonym: "acute cerebral Gaucher disease" NARROW [GARD:0008233] @@ -350214,6 +364951,7 @@ synonym: "lipoid histiocytosis" RELATED EXCLUDE [DOID:1926] synonym: "lipoid histiocytosis (kerasin type)" EXACT [DOID:1926] synonym: "sphingolipidosis 1" RELATED [GARD:0008233] xref: DOID:1926 {source="MONDO:equivalentTo"} +xref: GARD:8233 {source="Orphanet:355"} xref: ICD10CM:E75.2 {source="Orphanet:355/ntbt", source="Orphanet:355/inclusion", source="Orphanet:355"} xref: ICD10CM:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"} xref: MedDRA:10018048 {source="Orphanet:355/e", source="Orphanet:355"} @@ -350235,13 +364973,14 @@ id: MONDO:0018151 name: coenzyme Q10 deficiency def: "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." [NCIT:C142083] subset: disease_grouping -subset: gard_rare {source="GARD:0010423"} +subset: gard_rare {source="GARD:10423"} subset: ordo_group_of_disorders {source="Orphanet:35656"} synonym: "coenzyme Q10 deficiency disease" EXACT [MONDO:0000423] synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730] synonym: "CoQ10 deficiency" EXACT [Orphanet:35656] synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423] xref: DOID:0050730 {source="MONDO:equivalentTo"} +xref: GARD:10423 {source="Orphanet:35656"} xref: MESH:C564403 {source="MONDO:equivalentTo"} xref: NCIT:C142083 {source="MONDO:equivalentTo"} xref: OMIMPS:607426 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -350262,7 +365001,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10423/coenzy id: MONDO:0018152 name: serpiginous choroiditis def: "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." [https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis] -subset: gard_rare {source="GARD:0000031"} +subset: gard_rare {source="GARD:31"} subset: ordo_disease {source="Orphanet:35686"} synonym: "geographic choroiditis" RELATED [GARD:0000031] synonym: "geographic helicoid peripapillary choroidopathy" EXACT [Orphanet:35686] @@ -350270,6 +365009,7 @@ synonym: "geographic helicoid peripapillary choroidopathy (GHPC)" RELATED [GARD: synonym: "geographic serpiginous choroiditis" RELATED [GARD:0000031] synonym: "peripapillary choriopathy" RELATED [GARD:0000031] synonym: "serpiginous choroidopathy" RELATED [GARD:0000031] +xref: GARD:31 {source="Orphanet:35686"} xref: ICD10CM:H30.8 {source="Orphanet:35686/ntbt", source="Orphanet:35686"} xref: ICD9:363.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:35686 {source="MONDO:equivalentTo"} @@ -350287,6 +365027,7 @@ id: MONDO:0018153 name: Erdheim-Chester disease def: "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." [Orphanet:35687] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:6369"} subset: ordo_disease {source="Orphanet:35687"} synonym: "ECD" RELATED ABBREVIATION [ONCOTREE:ECD] synonym: "Erdheim Chester disease" RELATED [GARD:0006369] @@ -350296,6 +365037,7 @@ synonym: "lipoid granulomatosis" RELATED [GARD:0006369] synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972] xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"} xref: EFO:1000926 {source="MONDO:equivalentTo"} +xref: GARD:6369 {source="Orphanet:35687"} xref: ICD10CM:D76.3 {source="Orphanet:35687/ntbt", source="Orphanet:35687"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060801 {source="EFO:1000926", source="Orphanet:35687/e", source="Orphanet:35687"} @@ -350332,12 +365074,14 @@ property_value: confidence "2.1999999999999997" xsd:double id: MONDO:0018155 name: lateral sclerosis def: "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." [Orphanet:35689] +subset: gard_rare {source="GARD:10684"} subset: ordo_disease {source="Orphanet:35689"} synonym: "adult-onset PLS" EXACT [Orphanet:35689] synonym: "adult-onset primary lateral sclerosis" EXACT [DOID:230, Orphanet:35689] synonym: "PLS" EXACT ABBREVIATION [Orphanet:35689] synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM:335.24] xref: DOID:230 {source="MONDO:equivalentTo"} +xref: GARD:10684 {source="Orphanet:35689"} xref: ICD10CM:G12.2 {source="Orphanet:35689", source="Orphanet:35689/ntbt", source="Orphanet:35689/inclusion"} xref: ICD10CM:G12.29 {source="DOID:230"} xref: ICD9:335.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:230"} @@ -350354,11 +365098,13 @@ is_a: MONDO:0024237 {source="Orphanet:35689"} ! inherited neurodegenerative diso [Term] id: MONDO:0018156 name: 3q26q27 microdeletion syndrome +subset: gard_rare {source="GARD:21534"} subset: ordo_malformation_syndrome {source="Orphanet:356947"} synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947] synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947] synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947] synonym: "monosomy 3q26q27" EXACT [Orphanet:356947] +xref: GARD:21534 {source="Orphanet:356947"} xref: ICD10CM:Q93.5 {source="Orphanet:356947/attributed", source="Orphanet:356947/ntbt", source="Orphanet:356947"} xref: Orphanet:356947 {source="MONDO:equivalentTo"} xref: UMLS:CN204590 {source="MONDO:equivalentTo"} @@ -350370,11 +365116,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018157 name: obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' +subset: gard_rare {source="GARD:18814"} subset: ordo_group_of_disorders {source="Orphanet:35696"} synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696] synonym: "COXPD" EXACT ABBREVIATION [Orphanet:35696] +xref: GARD:18814 {source="MONDO:obsoleteEquivalent", source="Orphanet:35696"} xref: ICD10CM:E88.8 {source="Orphanet:35696/attributed", source="Orphanet:35696/ntbt", source="Orphanet:35696"} xref: Orphanet:35696 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227273 {source="MONDO:obsoleteEquivalent"} @@ -350388,9 +365136,11 @@ id: MONDO:0018158 name: mitochondrial DNA depletion syndrome def: "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." [Orphanet:35698] subset: disease_grouping +subset: gard_rare {source="GARD:13643"} subset: ordo_group_of_disorders {source="Orphanet:35698"} synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698] xref: DOID:0070329 {source="MONDO:equivalentTo"} +xref: GARD:13643 {source="Orphanet:35698"} xref: ICD10CM:G71.3 {source="Orphanet:35698/attributed", source="Orphanet:35698/ntbt", source="Orphanet:35698"} xref: MedDRA:10059396 {source="Orphanet:35698/e", source="Orphanet:35698"} xref: OMIMPS:603041 {source="MONDO:equivalentTo"} @@ -350404,6 +365154,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603041"} ! inheri [Term] id: MONDO:0018159 name: atypical hemolytic-uremic syndrome with DGKE deficiency +subset: gard_rare {source="GARD:17543"} subset: ordo_etiological_subtype {source="Orphanet:357008"} synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008] @@ -350411,6 +365162,7 @@ synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" EXACT OMO:0003005 [] xref: DOID:0080388 {source="MONDO:equivalentTo"} +xref: GARD:17543 {source="Orphanet:357008"} xref: ICD10CM:D58.8 {source="Orphanet:357008/attributed", source="Orphanet:357008/ntbt", source="Orphanet:357008"} xref: Orphanet:357008 {source="MONDO:equivalentTo"} xref: UMLS:CN204596 {source="MONDO:equivalentTo"} @@ -350420,6 +365172,7 @@ is_a: MONDO:0016244 {source="Orphanet:357008"} ! atypical hemolytic-uremic syndr id: MONDO:0018160 name: hereditary retinoblastoma def: "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C8495] +subset: gard_rare {source="GARD:17544"} subset: ordo_clinical_subtype {source="Orphanet:357027"} synonym: "familial retinoblastoma" EXACT [MONDO:0003074] synonym: "hereditary retinoblastoma" EXACT CLINGEN_PREFERRED [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495] @@ -350427,6 +365180,7 @@ synonym: "RB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] xref: DOID:4648 {source="MONDO:equivalentTo"} +xref: GARD:17544 {source="Orphanet:357027"} xref: ICD10CM:C69.2 {source="Orphanet:357027/attributed", source="Orphanet:357027/ntbt", source="Orphanet:357027"} xref: MESH:D012175 {source="DOID:4648"} xref: NCIT:C8495 {source="MONDO:equivalentTo", source="DOID:4648"} @@ -350444,7 +365198,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018161 name: non-hereditary retinoblastoma +subset: gard_rare {source="GARD:17545"} subset: ordo_clinical_subtype {source="Orphanet:357034"} +xref: GARD:17545 {source="Orphanet:357034"} xref: ICD10CM:C69.2 {source="Orphanet:357034/attributed", source="Orphanet:357034/ntbt", source="Orphanet:357034"} xref: Orphanet:357034 {source="MONDO:equivalentTo"} xref: UMLS:CN204600 {source="MONDO:equivalentTo"} @@ -350456,9 +365212,11 @@ name: neurometabolic disorder due to serine deficiency def: "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." [Orphanet:35705] comment: This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it. subset: disease_grouping +subset: gard_rare {source="GARD:18815"} subset: ordo_group_of_disorders {source="Orphanet:35705"} synonym: "neurometabolic disorder due to serine deficiency" EXACT CLINGEN_PREFERRED [] synonym: "serine deficiency" EXACT [Orphanet:35705] +xref: GARD:18815 {source="Orphanet:35705"} xref: ICD10CM:E72.8 {source="Orphanet:35705", source="Orphanet:35705/attributed", source="Orphanet:35705/ntbt"} xref: Orphanet:35705 {source="MONDO:equivalentTo"} xref: UMLS:CN227274 {source="MONDO:equivalentTo"} @@ -350471,6 +365229,7 @@ consider: MONDO:0019058 id: MONDO:0018163 name: autosomal recessive cutis laxa type 2A def: "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." [DOID:0070134] +subset: gard_rare {source="GARD:1638"} subset: ordo_disease {source="Orphanet:357058"} synonym: "ARCL2A" EXACT ABBREVIATION [DOID:0070134, OMIM:219200, Orphanet:357058] synonym: "autosomal recessive cutis laxa type 2A" EXACT CLINGEN_PREFERRED [] @@ -350484,6 +365243,7 @@ synonym: "cutis laxa, autosomal recessive, type 2A" EXACT [OMIM:219200] synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical, OMIM:219200] synonym: "cutis laxa, debre type" EXACT [OMIM:219200] xref: DOID:0070134 {source="MONDO:equivalentTo"} +xref: GARD:1638 {source="Orphanet:357058"} xref: ICD10CM:Q82.8 {source="Orphanet:357058", source="Orphanet:357058/attributed", source="Orphanet:357058/ntbt", source="DOID:0070134"} xref: OMIM:219200 {source="Orphanet:357058", source="Orphanet:357058/btnt", source="DOID:0070134", source="MONDO:equivalentTo"} xref: Orphanet:357058 {source="MONDO:equivalentTo"} @@ -350506,6 +365266,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018164 name: arterial thoracic outlet syndrome def: "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." [Orphanet:357107] +subset: gard_rare {source="GARD:21535"} subset: ordo_clinical_subtype {source="Orphanet:357107"} synonym: "arterial cervical rib syndrome" EXACT [Orphanet:357107] synonym: "arterial costoclavicular syndrome" EXACT [Orphanet:357107] @@ -350514,6 +365275,7 @@ synonym: "arterial scalenus anticus syndrome" EXACT [Orphanet:357107] synonym: "arterial thoracic outlet compression syndrome" EXACT [Orphanet:357107] synonym: "arterial TOS" EXACT [Orphanet:357107] synonym: "ATOS" EXACT ABBREVIATION [Orphanet:357107] +xref: GARD:21535 {source="Orphanet:357107"} xref: ICD10CM:G54.0 {source="Orphanet:357107/ntbt", source="Orphanet:357107"} xref: Orphanet:357107 {source="MONDO:equivalentTo"} xref: SCTID:8051000119105 {source="MONDO:equivalentTo"} @@ -350524,6 +365286,7 @@ is_a: MONDO:0005979 {source="Orphanet:357107"} ! thoracic outlet syndrome id: MONDO:0018165 name: venous thoracic outlet syndrome def: "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." [Orphanet:357131] +subset: gard_rare {source="GARD:21536"} subset: ordo_clinical_subtype {source="Orphanet:357131"} synonym: "effort subclavian vein thrombosis" EXACT [Orphanet:357131] synonym: "Paget-Schrotter disease" EXACT [Orphanet:357131] @@ -350534,6 +365297,7 @@ synonym: "Venous scalenus anticus syndrome" EXACT [Orphanet:357131] synonym: "Venous thoracic outlet compression syndrome" EXACT [Orphanet:357131] synonym: "Venous TOS" EXACT [Orphanet:357131] synonym: "VTOS" EXACT ABBREVIATION [Orphanet:357131] +xref: GARD:21536 {source="Orphanet:357131"} xref: ICD10CM:G54.0 {source="Orphanet:357131/ntbt", source="Orphanet:357131"} xref: Orphanet:357131 {source="MONDO:equivalentTo"} xref: SCTID:25981000119102 {source="MONDO:equivalentTo"} @@ -350544,7 +365308,7 @@ is_a: MONDO:0005979 {source="Orphanet:357131"} ! thoracic outlet syndrome id: MONDO:0018166 name: oral submucous fibrosis def: "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." [Orphanet:357154] -subset: gard_rare {source="GARD:0007264"} +subset: gard_rare {source="GARD:7264"} subset: ordo_disease {source="Orphanet:357154"} synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773] synonym: "oral submucosal fibrosis" EXACT [DOID:5773] @@ -350552,6 +365316,7 @@ synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9C synonym: "OSMF" EXACT ABBREVIATION [Orphanet:357154] xref: DOID:5773 {source="MONDO:equivalentTo"} xref: EFO:1001818 {source="MONDO:equivalentTo"} +xref: GARD:7264 {source="Orphanet:357154"} xref: ICD10CM:K13.5 {source="DOID:5773", source="Orphanet:357154/e", source="MONDO:equivalentTo", source="Orphanet:357154"} xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo"} @@ -350568,7 +365333,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7264/oral-su id: MONDO:0018167 name: primary essential cutis verticis gyrata def: "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." [Orphanet:357220] +subset: gard_rare {source="GARD:21537"} subset: ordo_disease {source="Orphanet:357220"} +xref: GARD:21537 {source="Orphanet:357220"} xref: ICD10CM:Q82.8 {source="Orphanet:357220/ntbt", source="Orphanet:357220"} xref: Orphanet:357220 {source="MONDO:equivalentTo"} xref: SCTID:765135003 {source="MONDO:equivalentTo"} @@ -350578,7 +365345,9 @@ is_a: MONDO:0019033 {source="Orphanet:357220"} ! primary cutis verticis gyrata [Term] id: MONDO:0018168 name: primary non-essential cutis verticis gyrata +subset: gard_rare {source="GARD:21538"} subset: ordo_disease {source="Orphanet:357225"} +xref: GARD:21538 {source="Orphanet:357225"} xref: ICD10CM:Q82.8 {source="Orphanet:357225/attributed", source="Orphanet:357225/ntbt", source="Orphanet:357225"} xref: Orphanet:357225 {source="MONDO:equivalentTo"} xref: UMLS:CN204616 {source="MONDO:equivalentTo"} @@ -350592,10 +365361,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018169 name: morning glory syndrome def: "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." [Orphanet:35737] -subset: gard_rare {source="GARD:0013354"} +subset: gard_rare {source="GARD:13354"} subset: ordo_morphological_anomaly {source="Orphanet:35737"} synonym: "Ectasic coloboma" EXACT [Orphanet:35737] synonym: "Volubilis syndrome" EXACT [Orphanet:35737] +xref: GARD:13354 {source="Orphanet:35737"} xref: ICD10CM:Q14.2 {source="Orphanet:35737/attributed", source="Orphanet:35737/ntbt", source="Orphanet:35737"} xref: MedDRA:10027974 {source="Orphanet:35737", source="Orphanet:35737/e"} xref: Orphanet:35737 {source="MONDO:equivalentTo"} @@ -350610,7 +365380,9 @@ id: MONDO:0018170 name: idiopathic nephrotic syndrome def: "Nephrotic syndrome for which no cause has been identified." [NCIT:C122796] subset: disease_grouping +subset: gard_rare {source="GARD:21539"} subset: ordo_group_of_disorders {source="Orphanet:357502"} +xref: GARD:21539 {source="Orphanet:357502"} xref: NCIT:C122796 {source="MONDO:equivalentTo"} xref: Orphanet:357502 {source="MONDO:equivalentTo"} xref: UMLS:C3496337 {source="Orphanet:357502", source="MONDO:equivalentTo", source="NCIT:C122796"} @@ -350623,6 +365395,7 @@ id: MONDO:0018171 name: malignant germ cell tumor of ovary def: "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." [Orphanet:35807] subset: disease_grouping +subset: gard_rare {source="GARD:9330"} subset: ordo_group_of_disorders {source="Orphanet:35807"} synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514] @@ -350637,6 +365410,7 @@ synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807] synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "ovary malignant germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2155 {source="MONDO:equivalentTo"} +xref: GARD:9330 {source="Orphanet:35807"} xref: ICD10CM:C56 {source="Orphanet:35807", source="Orphanet:35807/ntbt"} xref: MESH:C562841 {source="DOID:2155"} xref: NCIT:C4514 {source="DOID:2155", source="MONDO:equivalentTo"} @@ -350656,6 +365430,7 @@ id: MONDO:0018172 name: malignant sex cord stromal tumor of ovary def: "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." [Orphanet:35808] subset: disease_grouping +subset: gard_rare {source="GARD:18816"} subset: ordo_group_of_disorders {source="Orphanet:35808"} synonym: "malignant ovarian SCST" EXACT [Orphanet:35808] synonym: "malignant ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C8053] @@ -350668,6 +365443,7 @@ synonym: "malignant Sex cord-stromal tumor of the ovary" EXACT [NCIT:C8053] synonym: "malignant Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian sex cord-stromal tumor, malignant" EXACT [MONDO:patterns/malignant] +xref: GARD:18816 {source="Orphanet:35808"} xref: ICD10CM:C56 {source="Orphanet:35808/ntbt", source="Orphanet:35808"} xref: NCIT:C8053 {source="MONDO:equivalentTo"} xref: Orphanet:35808 {source="MONDO:equivalentTo"} @@ -350683,7 +365459,9 @@ intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant id: MONDO:0018173 name: acute opioid poisoning def: "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." [Orphanet:35889] +subset: gard_rare {source="GARD:18817"} subset: ordo_disease {source="Orphanet:35889"} +xref: GARD:18817 {source="Orphanet:35889"} xref: ICD10CM:T40.0 {source="Orphanet:35889", source="Orphanet:35889/btnt"} xref: ICD10CM:T40.1 {source="Orphanet:35889", source="Orphanet:35889/btnt"} xref: ICD10CM:T40.2 {source="Orphanet:35889", source="Orphanet:35889/btnt"} @@ -350698,10 +365476,11 @@ id: MONDO:0018174 name: hereditary glaucoma def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." [Orphanet:359] subset: disease_grouping -subset: gard_rare {source="GARD:0002486"} +subset: gard_rare {source="GARD:2486"} subset: ordo_group_of_disorders {source="Orphanet:359"} synonym: "glaucoma, hereditary" RELATED [GARD:0002486] synonym: "hereditary glaucoma (disease)" EXACT [MONDO:patterns/hereditary] +xref: GARD:2486 {source="Orphanet:359"} xref: MESH:C580055 {source="MONDO:equivalentTo"} xref: Orphanet:359 {source="MONDO:equivalentTo"} xref: UMLS:CN227278 {source="MONDO:equivalentTo"} @@ -350715,11 +365494,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2486/glaucom id: MONDO:0018175 name: combined deficiency of factor V and factor VIII def: "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." [Orphanet:35909] +subset: gard_rare {source="GARD:16639"} subset: ordo_disease {source="Orphanet:35909"} synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3, Orphanet:35909] synonym: "F5F8D" EXACT ABBREVIATION [Orphanet:35909] synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909] synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909] +xref: GARD:16639 {source="Orphanet:35909"} xref: ICD10CM:D68.8 {source="Orphanet:35909/attributed", source="Orphanet:35909/ntbt", source="Orphanet:35909"} xref: Orphanet:35909 {source="MONDO:equivalentTo"} xref: SCTID:715559004 {source="MONDO:equivalentTo"} @@ -350737,6 +365518,7 @@ replaced_by: MONDO:0000087 id: MONDO:0018177 name: glioblastoma def: "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" [NCIT:C3058] +subset: gard_rare {source="GARD:2491"} subset: ordo_disease {source="Orphanet:360"} synonym: "adult glioblastoma multiforme" RELATED EXCLUDE [DOID:3068] synonym: "GBM" EXACT ABBREVIATION [DOID:3068, NCIT:C3058, Orphanet:360] @@ -350758,6 +365540,7 @@ synonym: "spongioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058] synonym: "WHO grade IV glioma" EXACT [NCIT:C3058] xref: DOID:3068 {source="MONDO:equivalentTo"} xref: EFO:0000519 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-9584-9618"} +xref: GARD:2491 {source="Orphanet:360"} xref: HP:0012174 {source="MONDO:otherHierarchy"} xref: HP:0100843 {source="MONDO:otherHierarchy"} xref: ICD10CM:C71.9 {source="Orphanet:360", source="Orphanet:360/ntbt"} @@ -350790,9 +365573,11 @@ id: MONDO:0018178 name: intestinal lymphangiectasia def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." [MESH:D008201] subset: disease_grouping +subset: gard_rare {source="GARD:12331"} subset: ordo_group_of_disorders {source="Orphanet:36204"} synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous] synonym: "intestinal lymphangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:12331 {source="Orphanet:36204"} xref: HP:0002593 {source="MONDO:otherHierarchy"} xref: ICD10CM:I89.0 {source="Orphanet:36204/ntbt", source="Orphanet:36204"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -350814,7 +365599,9 @@ replaced_by: MONDO:0001881 [Term] id: MONDO:0018180 name: staphylococcal scarlet fever +subset: gard_rare {source="GARD:18819"} subset: ordo_disease {source="Orphanet:36235"} +xref: GARD:18819 {source="Orphanet:36235"} xref: ICD10CM:A38 {source="MONDO:relatedTo", source="Orphanet:36235/ntbt", source="Orphanet:36235"} xref: Orphanet:36235 {source="MONDO:equivalentTo"} xref: UMLS:CN204670 {source="MONDO:equivalentTo"} @@ -350824,6 +365611,7 @@ is_a: MONDO:0017592 {source="Orphanet:36235"} ! staphylococcal toxemia id: MONDO:0018181 name: staphylococcal scalded skin syndrome def: "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." [NCIT:C85077] +subset: gard_rare {source="GARD:13158"} subset: ordo_disease {source="Orphanet:36236"} synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063] synonym: "generalised exfoliative disease" EXACT OMO:0003005 [] @@ -350837,6 +365625,7 @@ synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063] synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063] xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"} xref: EFO:0007473 {source="MONDO:equivalentTo"} +xref: GARD:13158 {source="Orphanet:36236"} xref: ICD10CM:L00 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="Orphanet:36236"} xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041929 {source="Orphanet:36236/e", source="Orphanet:36236"} @@ -350862,7 +365651,9 @@ relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85077"} ! syndrom id: MONDO:0018182 name: bullous impetigo def: "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." [Orphanet:36237] +subset: gard_rare {source="GARD:18820"} subset: ordo_disease {source="Orphanet:36237"} +xref: GARD:18820 {source="Orphanet:36237"} xref: ICD10CM:L01.0 {source="Orphanet:36237/ntbt", source="Orphanet:36237"} xref: ICD10CM:L01.03 {source="MONDO:equivalentTo"} xref: MedDRA:10006563 {source="Orphanet:36237/e", source="Orphanet:36237"} @@ -350876,7 +365667,9 @@ is_a: MONDO:0017592 {source="Orphanet:36237"} ! staphylococcal toxemia id: MONDO:0018183 name: staphylococcal necrotizing pneumonia def: "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." [Orphanet:36238] +subset: gard_rare {source="GARD:18821"} subset: ordo_disease {source="Orphanet:36238"} +xref: GARD:18821 {source="Orphanet:36238"} xref: ICD10CM:J15.2 {source="Orphanet:36238", source="Orphanet:36238/ntbt"} xref: Orphanet:36238 {source="MONDO:equivalentTo"} xref: SCTID:763888005 {source="MONDO:equivalentTo"} @@ -350887,9 +365680,11 @@ is_a: MONDO:0017592 {source="Orphanet:36238"} ! staphylococcal toxemia id: MONDO:0018184 name: gastric linitis plastica def: "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." [Orphanet:36273] +subset: gard_rare {source="GARD:18822"} subset: ordo_clinical_situation {source="Orphanet:36273"} synonym: "Borrmann gastric cancer type 4" EXACT [Orphanet:36273] synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273] +xref: GARD:18822 {source="Orphanet:36273"} xref: ICD10CM:C16.9 {source="Orphanet:36273", source="Orphanet:36273/ntbt"} xref: Orphanet:36273 {source="MONDO:equivalentTo"} xref: SCTID:721629005 {source="MONDO:equivalentTo"} @@ -350901,6 +365696,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare [Term] id: MONDO:0018185 name: obsolete congenital anomaly of the great veins +subset: gard_rare {source="GARD:21541"} +xref: GARD:21541 {source="MONDO:obsoleteEquivalent", source="Orphanet:363189"} xref: Orphanet:363189 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0158632 {source="Orphanet:363189", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -350915,8 +365712,10 @@ name: obsolete ring chromosome def: "OBSOLETE. Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303] comment: Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091 subset: disease_grouping +subset: gard_rare {source="GARD:21542"} subset: ordo_group_of_disorders {source="Orphanet:363203"} synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360] +xref: GARD:21542 {source="MONDO:obsoleteEquivalent", source="Orphanet:363203"} xref: ICD10CM:Q93.2 {source="Orphanet:363203", source="Orphanet:363203/attributed", source="Orphanet:363203/ntbt"} xref: MESH:D012303 xref: NCIT:C3360 @@ -350929,7 +365728,9 @@ consider: MONDO:0700091 [Term] id: MONDO:0018187 name: obsolete hereditary syndromic Pierre Robin syndrome +subset: gard_rare {source="GARD:21545"} synonym: "genetic syndromic Pierre Robin syndrome" EXACT [Orphanet:363294] +xref: GARD:21545 {source="MONDO:obsoleteEquivalent", source="Orphanet:363294"} xref: Orphanet:363294 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204685 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:363294"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -350942,8 +365743,10 @@ is_obsolete: true [Term] id: MONDO:0018188 name: obsolete hereditary intestinal polyposis +subset: gard_rare {source="GARD:21548"} synonym: "familial intestinal polyposis" EXACT [Orphanet:363314] synonym: "genetic intestinal polyposis" EXACT [Orphanet:363314] +xref: GARD:21548 {source="MONDO:obsoleteEquivalent", source="Orphanet:363314"} xref: ICD10CM:D12.6 {source="Orphanet:363314", source="Orphanet:363314/attributed", source="Orphanet:363314/ntbt"} xref: Orphanet:363314 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C2713443 {source="MONDO:obsoleteEquivalent", source="Orphanet:363314"} @@ -350958,7 +365761,9 @@ is_obsolete: true id: MONDO:0018189 name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome def: "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." [Orphanet:363429] +subset: gard_rare {source="GARD:17556"} subset: ordo_disease {source="Orphanet:363429"} +xref: GARD:17556 {source="Orphanet:363429"} xref: ICD10CM:G11.1 {source="Orphanet:363429/attributed", source="Orphanet:363429/ntbt", source="Orphanet:363429"} xref: Orphanet:363429 {source="MONDO:equivalentTo"} xref: UMLS:CN204693 {source="MONDO:equivalentTo"} @@ -350968,11 +365773,13 @@ is_a: MONDO:0020044 {source="Orphanet:363429"} ! autosomal recessive metabolic c [Term] id: MONDO:0018190 name: autosomal dominant childhood-onset proximal spinal muscular atrophy +subset: gard_rare {source="GARD:17559"} subset: ordo_disease {source="Orphanet:363447"} synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447] synonym: "SMALED" EXACT ABBREVIATION [Orphanet:363447] synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600] xref: DOID:0070348 {source="MONDO:equivalentTo"} +xref: GARD:17559 {source="Orphanet:363447"} xref: ICD10CM:G12.1 {source="Orphanet:363447", source="Orphanet:363447/attributed", source="Orphanet:363447/ntbt"} xref: OMIMPS:158600 {source="MONDO:equivalentTo"} xref: Orphanet:363447 {source="MONDO:equivalentTo"} @@ -350987,8 +365794,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018191 name: obsolete tumor of testis and paratestis +subset: gard_rare {source="GARD:21549"} synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472] synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 [] +xref: GARD:21549 {source="Orphanet:363472", source="MONDO:obsoleteEquivalent"} xref: Orphanet:363472 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204698 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -350999,9 +365808,11 @@ is_obsolete: true [Term] id: MONDO:0018192 name: paratesticular adenocarcinoma +subset: gard_rare {source="GARD:21550"} subset: ordo_disease {source="Orphanet:363478"} synonym: "adenocarcinoma of paratestis" EXACT [Orphanet:363478] synonym: "adenocarcinoma of the paratestis" EXACT [Orphanet:363478] +xref: GARD:21550 {source="Orphanet:363478"} xref: ICD10CM:C63.0 {source="Orphanet:363478", source="Orphanet:363478/btnt"} xref: ICD10CM:C63.1 {source="Orphanet:363478", source="Orphanet:363478/btnt"} xref: ICD10CM:C63.2 {source="Orphanet:363478", source="Orphanet:363478/btnt"} @@ -351015,12 +365826,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018193 name: testicular teratoma +subset: gard_rare {source="GARD:17560"} subset: ordo_disease {source="Orphanet:363483"} synonym: "teratoma of testis" EXACT [NCIT:C3877] synonym: "teratoma of the testis" EXACT [NCIT:C3877, Orphanet:363483] synonym: "testicular teratoma" EXACT [MONDO:ambiguous] synonym: "testicular teratoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000573 {source="MONDO:equivalentTo"} +xref: GARD:17560 {source="Orphanet:363483"} xref: HP:0100616 {source="MONDO:otherHierarchy"} xref: ICD10CM:C62.9 {source="Orphanet:363483", source="Orphanet:363483/ntbt"} xref: NCIT:C3877 {source="EFO:1000573", source="MONDO:equivalentTo"} @@ -351052,8 +365865,10 @@ replaced_by: MONDO:0010108 [Term] id: MONDO:0018197 name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form +subset: gard_rare {source="GARD:17564"} subset: ordo_disease {source="Orphanet:363534"} synonym: "mtDNA depletion syndrome, hepatocerebrorenal form" EXACT [Orphanet:363534] +xref: GARD:17564 {source="Orphanet:363534"} xref: ICD10CM:E88.8 {source="Orphanet:363534", source="Orphanet:363534/attributed", source="Orphanet:363534/ntbt"} xref: Orphanet:363534 {source="MONDO:equivalentTo"} xref: UMLS:CN204706 {source="MONDO:equivalentTo"} @@ -351065,10 +365880,12 @@ is_a: MONDO:0100512 {source="Orphanet:363534", source="https://orcid.org/0000-00 id: MONDO:0018198 name: acute encephalopathy with biphasic seizures and late reduced diffusion def: "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." [Orphanet:363549] +subset: gard_rare {source="GARD:21552"} subset: ordo_disease {source="Orphanet:363549"} synonym: "acute infantile encephalopathy predominantly affecting the frontal lobes" EXACT [Orphanet:363549] synonym: "AESD" EXACT ABBREVIATION [Orphanet:363549] synonym: "AIEF" EXACT ABBREVIATION [Orphanet:363549] +xref: GARD:21552 {source="Orphanet:363549"} xref: ICD10CM:G40.4 {source="Orphanet:363549/ntbt", source="Orphanet:363549"} xref: Orphanet:363549 {source="MONDO:equivalentTo"} xref: SCTID:766044005 {source="MONDO:equivalentTo"} @@ -351079,10 +365896,12 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018199 name: new-onset refractory status epilepticus def: "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences." [Orphanet:363558] +subset: gard_rare {source="GARD:12244"} subset: ordo_disease {source="Orphanet:363558"} synonym: "De novo cryptogenic refractory multifocal febrile status epilepticus" RELATED [GARD:0012244] synonym: "New onset refractory status epilepticus" RELATED [GARD:0012244] synonym: "Norse" EXACT [Orphanet:363558] +xref: GARD:12244 {source="Orphanet:363558"} xref: Orphanet:363558 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:363558"} ! adolescent-onset epilepsy syndrome @@ -351091,7 +365910,9 @@ is_a: MONDO:0020073 {source="Orphanet:363558"} ! adolescent-onset epilepsy syndr id: MONDO:0018200 name: obsolete acute encephalopathy with inflammation-mediated status epilepticus subset: disease_grouping +subset: gard_rare {source="GARD:21553"} subset: ordo_group_of_disorders {source="Orphanet:363567"} +xref: GARD:21553 {source="MONDO:obsoleteEquivalent", source="Orphanet:363567"} xref: Orphanet:363567 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -351100,6 +365921,7 @@ id: MONDO:0018201 name: extragonadal germ cell tumor def: "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." [NCIT:C3918] subset: disease_grouping +subset: gard_rare {source="GARD:9325"} subset: ordo_group_of_disorders {source="Orphanet:363579"} synonym: "extragonadal GCT, NOS" RELATED EXCLUDE [NCIT:C3918] synonym: "extragonadal germ cell neoplasm" EXACT [NCIT:C3918] @@ -351114,6 +365936,7 @@ synonym: "tumor of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "tumor of the extragonadal germ cell" EXACT [NCIT:C3918] synonym: "tumour of extragonadal germ cell" EXACT OMO:0003005 [] synonym: "tumour of the extragonadal germ cell" EXACT OMO:0003005 [] +xref: GARD:9325 {source="Orphanet:363579"} xref: NCIT:C3918 {source="MONDO:equivalentTo"} xref: Orphanet:363579 {source="MONDO:equivalentTo"} xref: UMLS:C0262963 {source="MONDO:equivalentTo"} @@ -351126,7 +365949,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare id: MONDO:0018202 name: gonadal germ cell tumor subset: disease_grouping +subset: gard_rare {source="GARD:21554"} subset: ordo_group_of_disorders {source="Orphanet:363582"} +xref: GARD:21554 {source="Orphanet:363582"} xref: Orphanet:363582 {source="MONDO:equivalentTo"} xref: UMLS:CN204712 {source="MONDO:equivalentTo"} is_a: MONDO:0005040 {source="Orphanet:363582"} ! germ cell tumor @@ -351136,8 +365961,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare id: MONDO:0018203 name: LMNA-related cardiocutaneous progeria syndrome def: "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." [Orphanet:363618] +subset: gard_rare {source="GARD:21555"} subset: ordo_disease {source="Orphanet:363618"} synonym: "LCPS" EXACT ABBREVIATION [Orphanet:363618] +xref: GARD:21555 {source="Orphanet:363618"} xref: ICD10CM:E34.8 {source="Orphanet:363618/attributed", source="Orphanet:363618/ntbt", source="Orphanet:363618"} xref: Orphanet:363618 {source="MONDO:equivalentTo"} xref: UMLS:CN204714 {source="MONDO:equivalentTo"} @@ -351150,8 +365977,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare id: MONDO:0018204 name: 20q11.2 microduplication syndrome def: "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." [Orphanet:363659] +subset: gard_rare {source="GARD:21556"} subset: ordo_malformation_syndrome {source="Orphanet:363659"} synonym: "dup(20)(q11.2)" EXACT [Orphanet:363659] +xref: GARD:21556 {source="Orphanet:363659"} xref: ICD10CM:Q93.5 {source="Orphanet:363659/attributed", source="Orphanet:363659/ntbt", source="Orphanet:363659"} xref: Orphanet:363659 {source="MONDO:equivalentTo"} xref: SCTID:763061004 {source="MONDO:equivalentTo"} @@ -351168,11 +365997,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018205 name: distal monosomy 1q def: "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." [Orphanet:36367] +subset: gard_rare {source="GARD:16640"} subset: ordo_malformation_syndrome {source="Orphanet:36367"} synonym: "distal deletion 1q" EXACT [Orphanet:36367] synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367] synonym: "monosomy 1qter" EXACT [Orphanet:36367] synonym: "telomeric deletion 1q" EXACT [Orphanet:36367] +xref: GARD:16640 {source="Orphanet:36367"} xref: ICD10CM:Q93.5 {source="Orphanet:36367/attributed", source="Orphanet:36367/ntbt", source="Orphanet:36367"} xref: Orphanet:36367 {source="MONDO:equivalentTo"} xref: SCTID:717633007 {source="MONDO:equivalentTo"} @@ -351190,7 +366021,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018206 name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia +subset: gard_rare {source="GARD:17568"} subset: ordo_disease {source="Orphanet:363677"} +xref: GARD:17568 {source="Orphanet:363677"} xref: ICD10CM:G71.2 {source="Orphanet:363677", source="Orphanet:363677/attributed", source="Orphanet:363677/ntbt"} xref: Orphanet:363677 {source="MONDO:equivalentTo"} is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia @@ -351202,8 +366035,10 @@ property_value: confidence "0.00588235294117645" xsd:double id: MONDO:0018207 name: 2p13.2 microdeletion syndrome def: "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." [Orphanet:363680] +subset: gard_rare {source="GARD:21557"} subset: ordo_malformation_syndrome {source="Orphanet:363680"} synonym: "Del(2)(p13.2)" EXACT [Orphanet:363680] +xref: GARD:21557 {source="Orphanet:363680"} xref: ICD10CM:Q93.5 {source="Orphanet:363680", source="Orphanet:363680/attributed", source="Orphanet:363680/ntbt"} xref: Orphanet:363680 {source="MONDO:equivalentTo"} xref: UMLS:CN204723 {source="MONDO:equivalentTo"} @@ -351218,9 +366053,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018208 name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion +subset: gard_rare {source="GARD:17570"} subset: ordo_etiological_subtype {source="Orphanet:363700"} synonym: "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" EXACT [Orphanet:363700] xref: DOID:0111253 +xref: GARD:17570 {source="Orphanet:363700"} xref: ICD10CM:Q85.0 {source="Orphanet:363700", source="Orphanet:363700/attributed", source="Orphanet:363700/ntbt"} xref: Orphanet:363700 {source="MONDO:equivalentTo"} xref: UMLS:CN204726 {source="MONDO:equivalentTo"} @@ -351230,8 +366067,10 @@ is_a: MONDO:0018975 {source="Orphanet:363700"} ! neurofibromatosis type 1 id: MONDO:0018209 name: Alexander disease type I def: "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." [Orphanet:363717] +subset: gard_rare {source="GARD:17572"} subset: ordo_clinical_subtype {source="Orphanet:363717"} synonym: "AxD type I" EXACT [Orphanet:363717] +xref: GARD:17572 {source="Orphanet:363717"} xref: ICD10CM:E75.2 {source="Orphanet:363717/attributed", source="Orphanet:363717/ntbt", source="Orphanet:363717"} xref: Orphanet:363717 {source="MONDO:equivalentTo"} xref: UMLS:CN204729 {source="MONDO:equivalentTo"} @@ -351241,8 +366080,10 @@ is_a: MONDO:0008752 {source="Orphanet:363717"} ! Alexander disease id: MONDO:0018210 name: Alexander disease type II def: "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." [Orphanet:363722] +subset: gard_rare {source="GARD:17573"} subset: ordo_clinical_subtype {source="Orphanet:363722"} synonym: "AxD type II" EXACT [Orphanet:363722] +xref: GARD:17573 {source="Orphanet:363722"} xref: ICD10CM:E75.2 {source="Orphanet:363722", source="Orphanet:363722/attributed", source="Orphanet:363722/ntbt"} xref: Orphanet:363722 {source="MONDO:equivalentTo"} xref: UMLS:CN204730 {source="MONDO:equivalentTo"} @@ -351253,10 +366094,12 @@ id: MONDO:0018211 name: Balint syndrome def: "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." [https://github.com/obophenotype/human-phenotype-ontology/issues/3570, Orphanet:363746] comment: Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. {source="https://www.ncbi.nlm.nih.gov/pubmed/24607223"} +subset: gard_rare {source="GARD:21558"} subset: ordo_disease {source="Orphanet:363746"} synonym: "Balint-Holmes syndrome" EXACT [Orphanet:363746] synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:363746] synonym: "psychic paralysis of visual fixation" EXACT [MONDO:cjm, PMID:13208876] +xref: GARD:21558 {source="Orphanet:363746"} xref: ICD10CM:H51.8 {source="Orphanet:363746", source="Orphanet:363746/ntbt"} xref: Orphanet:363746 {source="MONDO:equivalentTo"} xref: SCTID:765212008 {source="MONDO:equivalentTo"} @@ -351270,10 +366113,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare id: MONDO:0018212 name: familial cervical artery dissection def: "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:18823"} subset: ordo_disease {source="Orphanet:36382"} synonym: "familial CAD" EXACT [Orphanet:36382] synonym: "hereditary CAD" EXACT [Orphanet:36382] synonym: "hereditary cervical artery dissection" EXACT [MONDO:patterns/hereditary, Orphanet:36382] +xref: GARD:18823 {source="Orphanet:36382"} xref: ICD10CM:I72.0 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"} xref: ICD10CM:I72.5 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"} xref: Orphanet:36382 {source="MONDO:equivalentTo"} @@ -351287,6 +366132,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare id: MONDO:0018213 name: hereditary sensory and autonomic neuropathy type 1 def: "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." [Orphanet:36386] +subset: gard_rare {source="GARD:6635"} subset: ordo_disease {source="Orphanet:36386"} synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, Orphanet:36386] synonym: "hereditary sensory neuropathy type 1" RELATED [GARD:0006635] @@ -351296,6 +366142,7 @@ synonym: "HSN1" RELATED ABBREVIATION [GARD:0006635] synonym: "neuropathy hereditary sensory and autonomic type 1" RELATED [GARD:0006635] synonym: "neuropathy hereditary sensory radicular, autosomal dominant" RELATED [GARD:0006635] xref: DOID:0070162 {source="MONDO:equivalentTo"} +xref: GARD:6635 {source="Orphanet:36386"} xref: ICD10CM:G60.8 {source="Orphanet:36386/attributed", source="Orphanet:36386/ntbt", source="Orphanet:36386"} xref: Orphanet:36386 {source="MONDO:equivalentTo", source="DOID:0070162"} xref: PMID:18348718 {source="DOID:0070162"} @@ -351311,6 +366158,7 @@ is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids b id: MONDO:0018214 name: generalized epilepsy with febrile seizures plus def: "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." [Orphanet:36387] +subset: gard_rare {source="GARD:18641"} subset: ordo_disease {source="Orphanet:36387"} synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233] synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387] @@ -351320,6 +366168,7 @@ synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:363 synonym: "genetic epilepsy with febrile seizures plus" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] synonym: "genetic epilepsy with febrile seizures-plus" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] xref: DOID:0060170 {source="MONDO:equivalentTo"} +xref: GARD:18641 {source="Orphanet:36387"} xref: ICD10CM:G40.3 {source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/attributed", source="Orphanet:36387/ntbt"} xref: MESH:C565808 {source="MONDO:equivalentTo"} xref: NCIT:C122811 {source="MONDO:equivalentTo"} @@ -351339,12 +366188,14 @@ id: MONDO:0018215 name: paraneoplastic neurologic syndrome def: "A paraneoplastic syndrome that involves the nervous system." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:7326"} subset: ordo_group_of_disorders {source="Orphanet:36388"} synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location] synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388] synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern] synonym: "PCD" EXACT ABBREVIATION [Orphanet:36388] synonym: "PNS" EXACT ABBREVIATION [Orphanet:36388] +xref: GARD:7326 {source="Orphanet:36388"} xref: ICD9:331.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072106 {source="Orphanet:36388/e", source="Orphanet:36388"} xref: Orphanet:36388 {source="MONDO:equivalentTo"} @@ -351361,6 +366212,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare [Term] id: MONDO:0018216 name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome +subset: gard_rare {source="GARD:17576"} subset: ordo_etiological_subtype {source="Orphanet:363958"} synonym: "17q21.31 recurrent microdeletion syndrome" EXACT [DECIPHER:57] synonym: "Del(17)(q21.31)" EXACT [Orphanet:363958] @@ -351368,6 +366220,7 @@ synonym: "monosomy 17q21.31" EXACT [Orphanet:363958] xref: DECIPHER:57 {source="MONDO:equivalentTo"} xref: DOID:0050880 {source="MONDO:equivalentTo"} xref: DOID:0070076 {source="MONDO:equivalentObsolete"} +xref: GARD:17576 {source="Orphanet:363958"} xref: ICD10CM:Q93.5 {source="Orphanet:363958/attributed", source="Orphanet:363958/ntbt", source="Orphanet:363958"} xref: MESH:C566476 {source="MONDO:equivalentTo"} xref: Orphanet:363958 {source="MONDO:equivalentTo"} @@ -351384,7 +366237,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018217 name: Koolen-de Vries syndrome due to a point mutation +subset: gard_rare {source="GARD:21559"} subset: ordo_etiological_subtype {source="Orphanet:363965"} +xref: GARD:21559 {source="Orphanet:363965"} xref: ICD10CM:Q93.5 {source="Orphanet:363965/attributed", source="Orphanet:363965/ntbt", source="Orphanet:363965"} xref: Orphanet:363965 {source="MONDO:equivalentTo"} xref: UMLS:CN204741 {source="MONDO:equivalentTo"} @@ -351394,7 +366249,9 @@ relationship: has_characteristic SO:1000008 ! point_mutation [Term] id: MONDO:0018218 name: autosomal recessive cerebral atrophy +subset: gard_rare {source="GARD:21560"} subset: ordo_disease {source="Orphanet:363969"} +xref: GARD:21560 {source="Orphanet:363969"} xref: ICD10CM:G31.8 {source="Orphanet:363969/attributed", source="Orphanet:363969/ntbt", source="Orphanet:363969"} xref: Orphanet:363969 {source="MONDO:equivalentTo"} xref: UMLS:CN204742 {source="MONDO:equivalentTo"} @@ -351406,6 +366263,7 @@ relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0018221 name: immune hydrops fetalis def: "Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." [Orphanet:364013] +subset: gard_rare {source="GARD:21561"} subset: ordo_clinical_subtype {source="Orphanet:364013"} synonym: "IHF" EXACT ABBREVIATION [Orphanet:364013] synonym: "immune fetal edema" EXACT [Orphanet:364013] @@ -351413,6 +366271,7 @@ synonym: "immune fetal hydrops" EXACT [Orphanet:364013] synonym: "immune foetal hydrops" EXACT OMO:0003005 [] synonym: "immune foetal oedema" EXACT OMO:0003005 [] synonym: "immune HF" EXACT [Orphanet:364013] +xref: GARD:21561 {source="Orphanet:364013"} xref: ICD10CM:P56.0 {source="Orphanet:364013", source="Orphanet:364013/e"} xref: ICD9:773.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C111904 {source="MONDO:equivalentTo"} @@ -351424,6 +366283,8 @@ is_a: MONDO:0015193 {source="NCIT:C111904", source="Orphanet:364013"} ! hydrops [Term] id: MONDO:0018222 name: obsolete X-linked intellectual disability due to GRIA3 anomalies +subset: gard_rare {source="GARD:17581"} +xref: GARD:17581 {source="MONDO:obsoleteEquivalent", source="Orphanet:364028"} xref: ICD10CM:F72 {source="Orphanet:364028", source="Orphanet:364028/attributed", source="Orphanet:364028/ntbt"} xref: Orphanet:364028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -351440,6 +366301,7 @@ is_obsolete: true id: MONDO:0018223 name: systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood def: "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." [Orphanet:364033] +subset: gard_rare {source="GARD:21562"} subset: ordo_disease {source="Orphanet:364033"} synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" BROAD [DOID:0070324] synonym: "systemic EBV+ T-cell LPD of childhood" EXACT [Orphanet:364033] @@ -351447,6 +366309,7 @@ synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [DOID:007032 synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [Orphanet:364033] synonym: "systemic EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80374] xref: DOID:0070324 {source="MONDO:equivalentTo"} +xref: GARD:21562 {source="Orphanet:364033"} xref: ICD10CM:D47.9 {source="Orphanet:364033", source="Orphanet:364033/ntbt", source="DOID:0070324"} xref: ICDO:9724/3 {source="NCIT:C80374"} xref: MESH:D008232 {source="DOID:0070324"} @@ -351465,6 +366328,7 @@ is_a: MONDO:0017343 {source="Orphanet:364033"} ! Epstein-Barr virus-associated m id: MONDO:0018224 name: hydroa vacciniforme-like lymphoma def: "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." [NCIT:P378] +subset: gard_rare {source="GARD:21563"} subset: ordo_disease {source="Orphanet:364039"} synonym: "angiocentric cutaneous T-cell lymphoma of childhood" EXACT [Orphanet:364039] synonym: "hV-like lymphoma" EXACT [NCIT:C45327] @@ -351473,6 +366337,7 @@ synonym: "hydroa vacciniforme-like cutaneous T-cell lymphoma" EXACT [NCIT:C45327 synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327] synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45327] synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039] +xref: GARD:21563 {source="Orphanet:364039"} xref: ICD10CM:C84.5 {source="Orphanet:364039", source="Orphanet:364039/ntbt"} xref: ICDO:9725/3 {source="NCIT:C45327"} xref: NCIT:C45327 {source="MONDO:equivalentTo"} @@ -351487,6 +366352,7 @@ is_a: MONDO:0017343 {source="Orphanet:364039"} ! Epstein-Barr virus-associated m id: MONDO:0018225 name: ALK-positive large B-cell lymphoma def: "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis." [Orphanet:364043] +subset: gard_rare {source="GARD:21564"} subset: ordo_disease {source="Orphanet:364043"} synonym: "ALK+ large B-cell lymphoma" EXACT [Orphanet:364043] synonym: "ALK+ LBCL" EXACT [Orphanet:364043] @@ -351494,6 +366360,7 @@ synonym: "ALK-DLBCL" EXACT [NCIT:C7225] synonym: "ALK-positive large B-cell lymphoma" EXACT [NCIT:C7225] synonym: "diffuse large B-cell lymphoma with expression of full-length ALK" EXACT [NCIT:C7225] synonym: "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase" EXACT [NCIT:C7225] +xref: GARD:21564 {source="Orphanet:364043"} xref: ICD10CM:C83.3 {source="Orphanet:364043", source="Orphanet:364043/ntbt"} xref: ICDO:9737/3 {source="NCIT:C7225"} xref: NCIT:C7225 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -351506,7 +366373,9 @@ is_a: MONDO:0018905 {source="NCIT:C7225", source="Orphanet:364043"} ! diffuse la id: MONDO:0018226 name: infantile epileptic-dyskinetic encephalopathy def: "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." [Orphanet:364063] +subset: gard_rare {source="GARD:17582"} subset: ordo_disease {source="Orphanet:364063"} +xref: GARD:17582 {source="Orphanet:364063"} xref: ICD10CM:G40.4 {source="Orphanet:364063/attributed", source="Orphanet:364063/ntbt", source="Orphanet:364063"} xref: MESH:C567924 {source="MONDO:equivalentTo"} xref: Orphanet:364063 {source="MONDO:equivalentTo"} @@ -351523,13 +366392,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018227 name: hypocomplementemic urticarial vasculitis def: "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." [Orphanet:36412] -subset: gard_rare {source="GARD:0006725"} +subset: gard_rare {source="GARD:6725"} subset: ordo_disease {source="Orphanet:36412"} synonym: "anti-C1q vasculitis" EXACT [Orphanet:36412] synonym: "Mac Duffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412] synonym: "Mac Duffie syndrome" EXACT [Orphanet:36412] synonym: "McDuffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412] synonym: "McDuffie syndrome" EXACT [Orphanet:36412] +xref: GARD:6725 {source="Orphanet:36412"} xref: ICD10CM:M31.8 {source="Orphanet:36412/ntbt", source="Orphanet:36412"} xref: Orphanet:36412 {source="MONDO:equivalentTo"} xref: SCTID:239945009 {source="MONDO:equivalentTo"} @@ -351543,7 +366413,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6725/hypocom id: MONDO:0018228 name: bipartite talus def: "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." [Orphanet:364198] +subset: gard_rare {source="GARD:21566"} subset: ordo_morphological_anomaly {source="Orphanet:364198"} +xref: GARD:21566 {source="Orphanet:364198"} xref: ICD10CM:Q66.8 {source="Orphanet:364198", source="Orphanet:364198/attributed", source="Orphanet:364198/ntbt"} xref: Orphanet:364198 {source="MONDO:equivalentTo"} xref: SCTID:763128009 {source="MONDO:equivalentTo"} @@ -351557,6 +366429,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018229 name: Stevens-Johnson syndrome def: "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." [Orphanet:36426] +subset: gard_rare {source="GARD:7700"} subset: ordo_clinical_subtype {source="Orphanet:36426"} synonym: "Dermatostomatitis, Stevens Johnson type" EXACT [Orphanet:36426] synonym: "erythema multiforme major" RELATED [NCIT:C79484] @@ -351567,6 +366440,7 @@ synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [OMIM:608579] synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579] xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"} xref: EFO:0004276 {source="MONDO:equivalentTo", source="DOID:0050426"} +xref: GARD:7700 {source="Orphanet:36426"} xref: ICD10CM:L51.1 {source="Orphanet:36426", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo", source="DOID:0050426"} xref: ICD10CM:L51.2 {source="DOID:0050426"} xref: ICD9:695.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -351604,11 +366478,13 @@ id: MONDO:0018230 name: skeletal dysplasia def: "Any Mendelian diseases that affects growth and development of the skeleton." [https://orcid.org/0000-0001-5208-3432, https://www.skeldys.org/, PMID:31633310] subset: disease_grouping +subset: gard_rare {source="GARD:21567"} subset: ordo_group_of_disorders {source="Orphanet:364526"} synonym: "Mendelian skeletal dysplasia" EXACT [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1780-5230] synonym: "primary bone dysplasia" EXACT [Orphanet:364526] synonym: "primary osteodysplasia" EXACT [Orphanet:364526] synonym: "primary skeletal dysplasia" EXACT [Orphanet:364526] +xref: GARD:21567 {source="Orphanet:364526"} xref: Orphanet:364526 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disease is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! bone disorder @@ -351622,9 +366498,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018231 name: obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments comment: Reason: out of scope. Term to consider: MONDO:0018230. +subset: gard_rare {source="GARD:21568"} subset: ordo_group_of_disorders {source="Orphanet:364531"} synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] +xref: GARD:21568 {source="MONDO:obsoleteEquivalent", source="Orphanet:364531"} xref: Orphanet:364531 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -351635,9 +366513,11 @@ consider: MONDO:0018230 id: MONDO:0018232 name: obsolete primary bone dysplasia with micromelia comment: Reason: out of scope. Term to consider: MONDO:0018230. +subset: gard_rare {source="GARD:21569"} subset: ordo_group_of_disorders {source="Orphanet:364536"} synonym: "primary osteodysplasia with micromelia" EXACT [Orphanet:364536] synonym: "primary skeletal dysplasia with micromelia" EXACT [Orphanet:364536] +xref: GARD:21569 {source="MONDO:obsoleteEquivalent", source="Orphanet:364536"} xref: Orphanet:364536 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -351649,10 +366529,12 @@ id: MONDO:0018233 name: otopalatodigital syndrome spectrum disorder def: "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." [Orphanet:364541] subset: disease_grouping +subset: gard_rare {source="GARD:21570"} subset: ordo_group_of_disorders {source="Orphanet:364541"} synonym: "OPD spectrum disorder" EXACT [Orphanet:364541] synonym: "OPSD" EXACT ABBREVIATION [Orphanet:364541] xref: DOID:0111782 {source="MONDO:equivalentTo"} +xref: GARD:21570 {source="Orphanet:364541"} xref: Orphanet:364541 {source="MONDO:equivalentTo"} xref: UMLS:C2748918 {source="Orphanet:364541", source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:364541"} ! skeletal dysplasia @@ -351663,9 +366545,11 @@ id: MONDO:0018234 name: dysostosis def: "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones." [https://orcid.org/0000-0002-0736-9199, https://www.sciencedirect.com/topics/medicine-and-dentistry/dysostosis] subset: disease_grouping +subset: gard_rare {source="GARD:21571"} subset: ordo_group_of_disorders {source="Orphanet:364559"} synonym: "dysostosis" EXACT [NCIT:C34560] xref: DOID:1934 {source="MONDO:equivalentTo"} +xref: GARD:21571 {source="Orphanet:364559"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004413 {source="MONDO:equivalentTo", source="DOID:1934"} xref: NCIT:C34560 {source="MONDO:equivalentTo", source="DOID:1934"} @@ -351683,7 +366567,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018235 name: obsolete dysostosis with limb anomaly as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21572"} subset: ordo_group_of_disorders {source="Orphanet:364568"} +xref: GARD:21572 {source="MONDO:obsoleteEquivalent", source="Orphanet:364568"} xref: Orphanet:364568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -351694,7 +366580,9 @@ is_obsolete: true id: MONDO:0018236 name: obsolete dysostosis with limb and face anomalies as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21573"} subset: ordo_group_of_disorders {source="Orphanet:364571"} +xref: GARD:21573 {source="Orphanet:364571", source="MONDO:obsoleteEquivalent"} xref: Orphanet:364571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -351705,8 +366593,10 @@ is_obsolete: true id: MONDO:0018237 name: acrofacial dysostosis subset: disease_grouping +subset: gard_rare {source="GARD:21574"} subset: ordo_group_of_disorders {source="Orphanet:364574"} xref: DOID:0060379 {source="MONDO:equivalentTo"} +xref: GARD:21574 {source="Orphanet:364574"} xref: NCIT:C35795 {source="MONDO:equivalentTo"} xref: Orphanet:364574 {source="MONDO:equivalentTo"} xref: UMLS:C1332140 {source="MONDO:equivalentTo", source="NCIT:C35795"} @@ -351726,6 +366616,8 @@ replaced_by: MONDO:0005381 [Term] id: MONDO:0018239 name: obsolete aggrecan-related bone disorder +subset: gard_rare {source="GARD:21576"} +xref: GARD:21576 {source="MONDO:obsoleteEquivalent", source="Orphanet:364817"} xref: Orphanet:364817 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227289 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -351739,7 +366631,9 @@ is_obsolete: true id: MONDO:0018240 name: TRPV4-related bone disorder subset: disease_grouping +subset: gard_rare {source="GARD:21577"} subset: ordo_group_of_disorders {source="Orphanet:364820"} +xref: GARD:21577 {source="Orphanet:364820"} xref: Orphanet:364820 {source="MONDO:equivalentTo"} xref: UMLS:CN227290 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:364820"} ! bone disorder @@ -351751,6 +366645,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018241 name: obsolete primary short bowel syndrome +subset: gard_rare {source="GARD:21578"} +xref: GARD:21578 {source="Orphanet:365563", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q41.0 {source="Orphanet:365563/attributed", source="Orphanet:365563/ntbt", source="Orphanet:365563"} xref: Orphanet:365563 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204780 {source="MONDO:obsoleteEquivalent"} @@ -351763,9 +366659,11 @@ is_obsolete: true id: MONDO:0018242 name: autoimmune hypoparathyroidism def: "An autoimmune form of hypoparathyroidism." [MONDO:patterns/autoimmune] +subset: gard_rare {source="GARD:18824"} subset: ordo_disease {source="Orphanet:36913"} synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous] synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:18824 {source="Orphanet:36913"} xref: HP:0011771 {source="MONDO:otherHierarchy"} xref: ICD10CM:E20.8 {source="Orphanet:36913/ntbt", source="Orphanet:36913"} xref: Orphanet:36913 {source="MONDO:equivalentTo"} @@ -351780,7 +366678,9 @@ property_value: IAO:0000589 "autoimmune hypoparathyroidism (disease)" xsd:string [Term] id: MONDO:0018243 name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome +subset: gard_rare {source="GARD:21579"} subset: ordo_disease {source="Orphanet:369847"} +xref: GARD:21579 {source="Orphanet:369847"} xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:369847", source="Orphanet:369847/attributed", source="Orphanet:369847/ntbt"} xref: Orphanet:369847 {source="MONDO:equivalentTo"} xref: UMLS:CN204803 {source="MONDO:equivalentTo"} @@ -351792,7 +366692,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018244 name: obesity due to SIM1 deficiency +subset: gard_rare {source="GARD:21580"} subset: ordo_disease {source="Orphanet:369873"} +xref: GARD:21580 {source="Orphanet:369873"} xref: ICD10CM:E66.8 {source="Orphanet:369873", source="Orphanet:369873/attributed", source="Orphanet:369873/ntbt"} xref: Orphanet:369873 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 {source="Orphanet:369873"} ! hereditary non-syndromic obesity @@ -351803,8 +366705,10 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0018245 name: 2p21 microdeletion syndrome without cystinuria def: "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." [Orphanet:369881] +subset: gard_rare {source="GARD:21581"} subset: ordo_malformation_syndrome {source="Orphanet:369881"} synonym: "Del(2)(p21) without cystinuria" EXACT [Orphanet:369881] +xref: GARD:21581 {source="Orphanet:369881"} xref: ICD10CM:Q93.5 {source="Orphanet:369881/attributed", source="Orphanet:369881/ntbt", source="Orphanet:369881"} xref: Orphanet:369881 {source="MONDO:equivalentTo"} xref: UMLS:CN204807 {source="MONDO:equivalentTo"} @@ -351817,7 +366721,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018246 name: obsolete homozygous 2p21 microdeletion syndrome +subset: gard_rare {source="GARD:21582"} synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886] +xref: GARD:21582 {source="Orphanet:369886", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.5 {source="Orphanet:369886/attributed", source="Orphanet:369886/ntbt", source="Orphanet:369886"} xref: Orphanet:369886 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204808 {source="MONDO:obsoleteEquivalent"} @@ -351831,10 +366737,12 @@ is_obsolete: true [Term] id: MONDO:0018247 name: CADDS +subset: gard_rare {source="GARD:12472"} subset: ordo_disease {source="Orphanet:369942"} synonym: "CADDS" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/, OMIM:300475] synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942] synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942] +xref: GARD:12472 {source="Orphanet:369942"} xref: ICD10CM:Q87.8 {source="Orphanet:369942", source="Orphanet:369942/attributed", source="Orphanet:369942/ntbt"} xref: OMIM:300475 {source="Orphanet:369942", source="Orphanet:369942/ntbt", source="MONDO:includedEntryInOMIM"} xref: Orphanet:369942 {source="MONDO:equivalentTo"} @@ -351852,8 +366760,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018248 name: intellectual disability-seizures-macrocephaly-obesity syndrome def: "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." [Orphanet:369950] +subset: gard_rare {source="GARD:21583"} subset: ordo_disease {source="Orphanet:369950"} synonym: "Der(8)t(8;12)" EXACT [Orphanet:369950] +xref: GARD:21583 {source="Orphanet:369950"} xref: ICD10CM:Q87.8 {source="Orphanet:369950", source="Orphanet:369950/attributed", source="Orphanet:369950/ntbt"} xref: Orphanet:369950 {source="MONDO:equivalentTo"} xref: UMLS:CN204818 {source="MONDO:equivalentTo"} @@ -351865,7 +366775,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018249 name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome +subset: gard_rare {source="GARD:21584"} subset: ordo_malformation_syndrome {source="Orphanet:369979"} +xref: GARD:21584 {source="Orphanet:369979"} xref: ICD10CM:Q87.2 {source="Orphanet:369979", source="Orphanet:369979/attributed", source="Orphanet:369979/ntbt"} xref: Orphanet:369979 {source="MONDO:equivalentTo"} xref: UMLS:CN204822 {source="MONDO:equivalentTo"} @@ -351874,7 +366786,9 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic [Term] id: MONDO:0018250 name: diffuse palmoplantar keratoderma with painful fissures +subset: gard_rare {source="GARD:17595"} subset: ordo_disease {source="Orphanet:369999"} +xref: GARD:17595 {source="Orphanet:369999"} xref: ICD10CM:Q82.8 {source="Orphanet:369999/attributed", source="Orphanet:369999/ntbt", source="Orphanet:369999"} xref: Orphanet:369999 {source="MONDO:equivalentTo"} xref: UMLS:CN204824 {source="MONDO:equivalentTo"} @@ -351890,6 +366804,7 @@ id: MONDO:0018251 name: obsolete glycogen storage disease due to phosphorylase kinase deficiency def: "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." [Orphanet:370] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' +subset: gard_rare {source="GARD:18691"} subset: ordo_group_of_disorders {source="Orphanet:370"} synonym: "glycogen storage disease due to PhK deficiency" EXACT [Orphanet:370] synonym: "glycogen storage disease IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] @@ -351906,6 +366821,7 @@ synonym: "GSDIX" EXACT ABBREVIATION [https://www.ncbi.nlm.nih.gov/books/NBK55061 synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370] synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662] xref: DOID:0050594 {source="MONDO:obsoleteEquivalent"} +xref: GARD:18691 {source="MONDO:obsoleteEquivalent", source="Orphanet:370"} xref: ICD10CM:E74.0 {source="Orphanet:370/inclusion", source="Orphanet:370", source="Orphanet:370/ntbt"} xref: MESH:C580130 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C122662 {source="MONDO:obsoleteEquivalent"} @@ -351921,7 +366837,9 @@ consider: MONDO:0002412 [Term] id: MONDO:0018252 name: focal palmoplantar keratoderma with joint keratoses +subset: gard_rare {source="GARD:17596"} subset: ordo_disease {source="Orphanet:370002"} +xref: GARD:17596 {source="Orphanet:370002"} xref: ICD10CM:Q82.8 {source="Orphanet:370002", source="Orphanet:370002/attributed", source="Orphanet:370002/ntbt"} xref: Orphanet:370002 {source="MONDO:equivalentTo"} xref: UMLS:CN204827 {source="MONDO:equivalentTo"} @@ -351933,7 +366851,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018253 name: intellectual disability-facial dysmorphism-hand anomalies syndrome +subset: gard_rare {source="GARD:21585"} subset: ordo_malformation_syndrome {source="Orphanet:370010"} +xref: GARD:21585 {source="Orphanet:370010"} xref: ICD10CM:Q87.0 {source="Orphanet:370010/attributed", source="Orphanet:370010/ntbt", source="Orphanet:370010"} xref: Orphanet:370010 {source="MONDO:equivalentTo"} xref: UMLS:CN204829 {source="MONDO:equivalentTo"} @@ -351945,7 +366865,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018254 name: spondyloepimetaphyseal dysplasia, Isidor type +subset: gard_rare {source="GARD:21586"} subset: ordo_disease {source="Orphanet:370015"} +xref: GARD:21586 {source="Orphanet:370015"} xref: ICD10CM:Q77.8 {source="Orphanet:370015/attributed", source="Orphanet:370015/ntbt", source="Orphanet:370015"} xref: Orphanet:370015 {source="MONDO:equivalentTo"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia @@ -351955,7 +366877,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018255 name: spondylometaphyseal dysplasia, Czarny-Ratajczak type +subset: gard_rare {source="GARD:21587"} subset: ordo_disease {source="Orphanet:370019"} +xref: GARD:21587 {source="Orphanet:370019"} xref: ICD10CM:Q77.8 {source="Orphanet:370019/attributed", source="Orphanet:370019/ntbt", source="Orphanet:370019"} xref: Orphanet:370019 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:370019"} ! spondylometaphyseal dysplasia @@ -351964,8 +366888,10 @@ is_a: MONDO:0016763 {source="Orphanet:370019"} ! spondylometaphyseal dysplasia id: MONDO:0018256 name: acute myeloid leukemia with t(8;16)(p11;p13) translocation def: "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." [Orphanet:370026] +subset: gard_rare {source="GARD:21588"} subset: ordo_disease {source="Orphanet:370026"} synonym: "AML with t(8;16)(p11;p13) translocation" EXACT [Orphanet:370026] +xref: GARD:21588 {source="Orphanet:370026"} xref: ICD10CM:C92.0 {source="Orphanet:370026/ntbt", source="Orphanet:370026"} xref: Orphanet:370026 {source="MONDO:equivalentTo"} xref: SCTID:725390002 {source="MONDO:equivalentTo"} @@ -351978,8 +366904,10 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018257 name: familial syringomyelia def: "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21589"} subset: ordo_clinical_subtype {source="Orphanet:370034"} synonym: "hereditary syringomyelia" EXACT [MONDO:patterns/hereditary] +xref: GARD:21589 {source="Orphanet:370034"} xref: ICD10CM:Q06.4 {source="Orphanet:370034", source="Orphanet:370034/attributed", source="Orphanet:370034/ntbt"} xref: Orphanet:370034 {source="MONDO:equivalentTo"} xref: UMLS:CN204832 {source="MONDO:equivalentTo"} @@ -351990,8 +366918,10 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0018258 name: Angora hair nevus +subset: gard_rare {source="GARD:21590"} subset: ordo_disease {source="Orphanet:370039"} synonym: "Schauder syndrome" EXACT [Orphanet:370039] +xref: GARD:21590 {source="Orphanet:370039"} xref: ICD10CM:Q82.5 {source="Orphanet:370039/ntbt", source="Orphanet:370039"} xref: Orphanet:370039 {source="MONDO:equivalentTo"} xref: UMLS:CN204833 {source="MONDO:equivalentTo"} @@ -352001,8 +366931,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare [Term] id: MONDO:0018259 name: didymosis aplasticosebacea +subset: gard_rare {source="GARD:21591"} subset: ordo_disease {source="Orphanet:370046"} synonym: "aplasia cutis congenita-nevus sebaceus syndrome" EXACT [Orphanet:370046] +xref: GARD:21591 {source="Orphanet:370046"} xref: ICD10CM:Q84.8 {source="Orphanet:370046", source="Orphanet:370046/ntbt"} xref: Orphanet:370046 {source="MONDO:equivalentTo"} xref: UMLS:CN204834 {source="MONDO:equivalentTo"} @@ -352012,9 +366944,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare [Term] id: MONDO:0018260 name: scalp syndrome +subset: gard_rare {source="GARD:21592"} subset: ordo_disease {source="Orphanet:370052"} synonym: "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052] synonym: "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052] +xref: GARD:21592 {source="Orphanet:370052"} xref: ICD10CM:Q84.8 {source="Orphanet:370052", source="Orphanet:370052/ntbt"} xref: Orphanet:370052 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:370052"} ! melanocytic nevus @@ -352024,8 +366958,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare id: MONDO:0018261 name: Nevada syndrome def: "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." [Orphanet:370059] +subset: gard_rare {source="GARD:21593"} subset: ordo_disease {source="Orphanet:370059"} synonym: "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" EXACT [Orphanet:370059] +xref: GARD:21593 {source="Orphanet:370059"} xref: ICD10CM:Q84.8 {source="Orphanet:370059/ntbt", source="Orphanet:370059"} xref: Orphanet:370059 {source="MONDO:equivalentTo"} xref: UMLS:CN204836 {source="MONDO:equivalentTo"} @@ -352035,11 +366971,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare [Term] id: MONDO:0018262 name: obsolete fetal anticonvulsant syndrome +subset: gard_rare {source="GARD:21594"} synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068] synonym: "fetal AEDS" EXACT [Orphanet:370068] synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] synonym: "foetal AEDS" EXACT OMO:0003005 [] synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 [] +xref: GARD:21594 {source="MONDO:obsoleteEquivalent", source="Orphanet:370068"} xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"} xref: Orphanet:370068 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1739111 {source="MONDO:obsoleteEquivalent", source="Orphanet:370068"} @@ -352052,7 +366990,9 @@ is_obsolete: true id: MONDO:0018263 name: fetal carbamazepine syndrome def: "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." [Orphanet:370076] +subset: gard_rare {source="GARD:21595"} subset: ordo_disease {source="Orphanet:370076"} +xref: GARD:21595 {source="Orphanet:370076"} xref: ICD10CM:Q86.8 {source="Orphanet:370076/ntbt", source="Orphanet:370076"} xref: ICD9:760.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:370076 {source="MONDO:equivalentTo"} @@ -352066,11 +367006,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018264 name: oculocutaneous albinism type 6 def: "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." [Orphanet:370097] +subset: gard_rare {source="GARD:17599"} subset: ordo_disease {source="Orphanet:370097"} synonym: "albinism, oculocutaneous, type VI" RELATED [OMIM:113750] synonym: "OCA6" EXACT ABBREVIATION [OMIM:113750, Orphanet:370097] synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750, OMIM:genemap2] xref: DOID:0080614 {source="MONDO:equivalentTo"} +xref: GARD:17599 {source="Orphanet:370097"} xref: ICD10CM:E70.3 {source="Orphanet:370097/attributed", source="Orphanet:370097/ntbt", source="Orphanet:370097"} xref: OMIM:113750 {source="Orphanet:370097/ntbt", source="Orphanet:370097", source="MONDO:equivalentTo"} xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"} @@ -352084,7 +367026,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018265 name: obsolete rare disorder with dystonia and other neurologic or systemic manifestation subset: disease_grouping +subset: gard_rare {source="GARD:21596"} subset: ordo_group_of_disorders {source="Orphanet:370106"} +xref: GARD:21596 {source="MONDO:obsoleteEquivalent", source="Orphanet:370106"} xref: Orphanet:370106 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227296 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352096,8 +367040,10 @@ is_obsolete: true id: MONDO:0018266 name: ataxia - telangiectasia variant def: "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." [Orphanet:370109] +subset: gard_rare {source="GARD:21597"} subset: ordo_disease {source="Orphanet:370109"} synonym: "v-AT" EXACT [Orphanet:370109] +xref: GARD:21597 {source="Orphanet:370109"} xref: ICD10CM:G11.3 {source="Orphanet:370109", source="Orphanet:370109/attributed", source="Orphanet:370109/ntbt"} xref: Orphanet:370109 {source="MONDO:equivalentTo"} xref: UMLS:C1876175 {source="Orphanet:370109", source="MONDO:equivalentTo"} @@ -352122,8 +367068,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018268 name: Medich giant platelet syndrome def: "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." [Orphanet:370127] +subset: gard_rare {source="GARD:21598"} subset: ordo_disease {source="Orphanet:370127"} synonym: "Medich macrothrombocytopenia" EXACT [Orphanet:370127] +xref: GARD:21598 {source="Orphanet:370127"} xref: ICD10CM:D69.1 {source="Orphanet:370127/attributed", source="Orphanet:370127/ntbt", source="Orphanet:370127"} xref: Orphanet:370127 {source="MONDO:equivalentTo"} xref: SCTID:718554005 {source="MONDO:equivalentTo"} @@ -352136,9 +367084,10 @@ id: MONDO:0018269 name: white platelet syndrome def: "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." [Orphanet:370131] comment: Editor note: check relationship to platelet granule deficiency disorder -subset: gard_rare {source="GARD:0009282"} +subset: gard_rare {source="GARD:9282"} subset: ordo_disease {source="Orphanet:370131"} synonym: "platelet granule deficiency disorder" RELATED [GARD:0009282] +xref: GARD:9282 {source="Orphanet:370131"} xref: ICD10CM:D69.1 {source="Orphanet:370131/attributed", source="Orphanet:370131/ntbt", source="Orphanet:370131"} xref: MESH:C536702 {source="MONDO:equivalentTo"} xref: Orphanet:370131 {source="MONDO:equivalentTo"} @@ -352151,6 +367100,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9282/white-p id: MONDO:0018270 name: extraskeletal Ewing sarcoma def: "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." [NCIT:C7135] +subset: gard_rare {source="GARD:17600"} subset: ordo_disease {source="Orphanet:370334"} synonym: "EOE" EXACT ABBREVIATION [NCIT:C7135, Orphanet:370334] synonym: "Extra-osseous Ewing's sarcoma" EXACT [NCIT:C7135] @@ -352167,6 +367117,7 @@ synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334] synonym: "extraskeletal Ewing tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135] xref: DOID:4232 {source="MONDO:equivalentTo"} +xref: GARD:17600 {source="Orphanet:370334"} xref: ICD10CM:C49.9 {source="Orphanet:370334/ntbt", source="Orphanet:370334"} xref: NCIT:C27293 {source="DOID:4232"} xref: NCIT:C7135 {source="MONDO:equivalentTo"} @@ -352184,6 +367135,7 @@ id: MONDO:0018271 name: peripheral primitive neuroectodermal tumor def: "A small round cell tumor with neural differentiation arising from the soft tissues or bone." [NCIT:C9341] comment: Other ontologies classify peripheral neuroepithelioma as a seprate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398). +subset: gard_rare {source="GARD:17601"} subset: ordo_disease {source="Orphanet:370348"} synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341] @@ -352194,6 +367146,7 @@ synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341] synonym: "PPNET" EXACT ABBREVIATION [Orphanet:370348] synonym: "pPNET" EXACT [NCIT:C9341] +xref: GARD:17601 {source="Orphanet:370348"} xref: ICD10CM:C71.9 {source="Orphanet:370348/ntbt", source="Orphanet:370348"} xref: ICDO:9364/3 {source="NCIT:C9341"} xref: NCIT:C9341 {source="MONDO:0021039", source="MONDO:equivalentTo"} @@ -352216,10 +367169,12 @@ replaced_by: MONDO:0003795 [Term] id: MONDO:0018273 name: XYLT1-congenital disorder of glycosylation +subset: gard_rare {source="GARD:21599"} subset: ordo_disease {source="Orphanet:370930"} synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849] synonym: "XYLT1-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] synonym: "XYLT18-CDG" EXACT ABBREVIATION [Orphanet:356961] +xref: GARD:21599 {source="Orphanet:370930"} xref: ICD10CM:E77.8 {source="Orphanet:370930/attributed", source="Orphanet:370930/ntbt", source="Orphanet:370930"} xref: Orphanet:370930 {source="MONDO:equivalentTo"} xref: UMLS:CN204859 {source="MONDO:equivalentTo"} @@ -352233,6 +367188,7 @@ id: MONDO:0018274 name: GM3 synthase deficiency def: "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." [https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency] subset: disease_grouping +subset: gard_rare {source="GARD:12059"} subset: ordo_group_of_disorders {source="Orphanet:370933"} synonym: "Amish infantile epilepsy syndrome" EXACT [MONDO:0012189, OMIM:609056] synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] @@ -352248,6 +367204,7 @@ synonym: "salt-and-pepper syndrome" EXACT [DOID:0060470] synonym: "SPDRS" EXACT ABBREVIATION [OMIM:609056] synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933] xref: DOID:0060470 {source="MONDO:equivalentTo"} +xref: GARD:12059 {source="Orphanet:370933"} xref: ICD10CM:E77.8 {source="Orphanet:171714", source="Orphanet:370938/attributed", source="Orphanet:370938/ntbt", source="Orphanet:171714/attributed", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="Orphanet:370933/attributed", source="Orphanet:370933/ntbt", source="Orphanet:370933"} xref: OMIM:609056 {source="Orphanet:171714", source="Orphanet:370938/ntbt", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="MONDO:equivalentTo"} xref: Orphanet:171714 {source="MONDO:equivalentObsolete", source="OMIM:609056"} @@ -352284,11 +367241,13 @@ replaced_by: MONDO:0018274 id: MONDO:0018276 name: muscular dystrophy-dystroglycanopathy subset: disease_grouping +subset: gard_rare {source="GARD:12584"} subset: ordo_group_of_disorders {source="Orphanet:370953"} synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, Orphanet:370953] synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953] synonym: "muscular dystrophy-dystroglycanopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0112374 {source="MONDO:equivalentTo"} +xref: GARD:12584 {source="Orphanet:370953"} xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953/attributed", source="Orphanet:370953/ntbt", source="Orphanet:370953"} xref: Orphanet:370953 {source="DOID:0050588", source="MONDO:equivalentTo"} xref: UMLS:CN229783 {source="MONDO:equivalentTo"} @@ -352298,8 +367257,10 @@ relationship: disease_disrupts GO:0006486 ! protein glycosylation [Term] id: MONDO:0018277 name: obsolete congenital muscular dystrophy with cerebellar involvement +subset: gard_rare {source="GARD:17605"} synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959] synonym: "CMD-CRB" EXACT [Orphanet:370959] +xref: GARD:17605 {source="Orphanet:370959", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.2 {source="Orphanet:370959", source="Orphanet:370959/attributed", source="Orphanet:370959/ntbt"} xref: Orphanet:370959 {source="MONDO:obsoleteEquivalent"} property_value: confidence "1.8985054133659522" xsd:double @@ -352315,9 +367276,11 @@ is_obsolete: true [Term] id: MONDO:0018278 name: congenital muscular dystrophy with intellectual disability +subset: gard_rare {source="GARD:17606"} subset: ordo_disease {source="Orphanet:370968"} synonym: "CMD with intellectual disability" EXACT [Orphanet:370968] synonym: "CMD-MR" EXACT [Orphanet:370968] +xref: GARD:17606 {source="Orphanet:370968"} xref: ICD10CM:G71.2 {source="Orphanet:370968", source="Orphanet:370968/attributed", source="Orphanet:370968/ntbt"} xref: Orphanet:370968 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -352329,9 +367292,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018279 name: obsolete congenital muscular dystrophy without intellectual disability +subset: gard_rare {source="GARD:17607"} synonym: "CMD without intellectual disability" EXACT [Orphanet:370980] synonym: "CMD-no MR" EXACT [Orphanet:370980] synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980] +xref: GARD:17607 {source="MONDO:obsoleteEquivalent", source="Orphanet:370980"} xref: ICD10CM:G71.2 {source="Orphanet:370980", source="Orphanet:370980/attributed", source="Orphanet:370980/ntbt"} xref: Orphanet:370980 {source="MONDO:obsoleteEquivalent"} property_value: confidence "1.8985054133659522" xsd:double @@ -352348,8 +367313,10 @@ is_obsolete: true id: MONDO:0018280 name: muscle-eye-brain disease with bilateral multicystic leucodystrophy def: "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." [Orphanet:370997] +subset: gard_rare {source="GARD:17608"} subset: ordo_disease {source="Orphanet:370997"} synonym: "MEB disease with bilateral multicystic leucodystrophy" EXACT [Orphanet:370997] +xref: GARD:17608 {source="Orphanet:370997"} xref: ICD10CM:G71.2 {source="Orphanet:370997/attributed", source="Orphanet:370997/ntbt", source="Orphanet:370997"} xref: Orphanet:370997 {source="MONDO:equivalentTo"} is_a: MONDO:0018276 ! muscular dystrophy-dystroglycanopathy @@ -352361,8 +367328,10 @@ property_value: confidence "0.5294117647058822" xsd:double id: MONDO:0018281 name: congenital muscular dystrophy with hyperlaxity def: "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." [Orphanet:371007] +subset: gard_rare {source="GARD:21600"} subset: ordo_disease {source="Orphanet:371007"} synonym: "CMDH" EXACT ABBREVIATION [Orphanet:371007] +xref: GARD:21600 {source="Orphanet:371007"} xref: ICD10CM:G71.2 {source="Orphanet:371007/attributed", source="Orphanet:371007/ntbt", source="Orphanet:371007"} xref: Orphanet:371007 {source="MONDO:equivalentTo"} xref: SCTID:763314009 {source="MONDO:equivalentTo"} @@ -352374,9 +367343,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018282 name: qualitative or quantitative defects of alpha-dystroglycan subset: disease_grouping +subset: gard_rare {source="GARD:21601"} subset: ordo_group_of_disorders {source="Orphanet:371024"} synonym: "alpha-dystroglycanopathy" EXACT [Orphanet:371024] synonym: "dystroglycanopathy" EXACT [Orphanet:371024] +xref: GARD:21601 {source="Orphanet:371024"} xref: ICD10CM:G71.2 {source="Orphanet:371024", source="Orphanet:371024/attributed", source="Orphanet:371024/ntbt"} xref: Orphanet:371024 {source="MONDO:equivalentTo"} is_a: MONDO:0016139 {source="Orphanet:371024"} ! qualitative or quantitative protein defects in neuromuscular diseases @@ -352385,8 +367356,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018283 name: obsolete primary qualitative or quantitative defects of alpha-dystroglycan +subset: gard_rare {source="GARD:21602"} synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040] synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040] +xref: GARD:21602 {source="Orphanet:371040", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.2 {source="Orphanet:371040", source="Orphanet:371040/attributed", source="Orphanet:371040/ntbt"} xref: Orphanet:371040 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -352398,8 +367371,10 @@ is_obsolete: true id: MONDO:0018284 name: obsolete congenital disorder of glycosylation with neurological involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' +subset: gard_rare {source="GARD:21603"} subset: ordo_group_of_disorders {source="Orphanet:371047"} synonym: "CDG with neurological involvement" EXACT [Orphanet:371047] +xref: GARD:21603 {source="MONDO:obsoleteEquivalent", source="Orphanet:371047"} xref: ICD10CM:E77.8 {source="Orphanet:371047", source="Orphanet:371047/attributed", source="Orphanet:371047/ntbt"} xref: Orphanet:371047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352438,8 +367413,10 @@ is_obsolete: true id: MONDO:0018287 name: obsolete congenital disorder of glycosylation with epilepsy as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21604"} subset: ordo_group_of_disorders {source="Orphanet:371071"} synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071] +xref: GARD:21604 {source="MONDO:obsoleteEquivalent", source="Orphanet:371071"} xref: ICD10CM:E77.8 {source="Orphanet:371071/attributed", source="Orphanet:371071/ntbt", source="Orphanet:371071"} xref: Orphanet:371071 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352451,8 +367428,10 @@ is_obsolete: true id: MONDO:0018288 name: obsolete congenital disorder of glycosylation with hepatic involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' +subset: gard_rare {source="GARD:21605"} subset: ordo_group_of_disorders {source="Orphanet:371157"} synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157] +xref: GARD:21605 {source="MONDO:obsoleteEquivalent", source="Orphanet:371157"} xref: ICD10CM:E77.8 {source="Orphanet:371157", source="Orphanet:371157/attributed", source="Orphanet:371157/ntbt"} xref: Orphanet:371157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352465,8 +367444,10 @@ consider: MONDO:0015286 id: MONDO:0018289 name: obsolete congenital disorder of glycosylation with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' +subset: gard_rare {source="GARD:21606"} subset: ordo_group_of_disorders {source="Orphanet:371176"} synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176] +xref: GARD:21606 {source="MONDO:obsoleteEquivalent", source="Orphanet:371176"} xref: ICD10CM:E77.8 {source="Orphanet:371176/attributed", source="Orphanet:371176/ntbt", source="Orphanet:371176"} xref: Orphanet:371176 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352479,8 +367460,10 @@ consider: MONDO:0015286 id: MONDO:0018290 name: obsolete congenital disorder of glycosylation with cardiac malformation as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21607"} subset: ordo_group_of_disorders {source="Orphanet:371183"} synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183] +xref: GARD:21607 {source="Orphanet:371183", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371183", source="Orphanet:371183/attributed", source="Orphanet:371183/ntbt"} xref: Orphanet:371183 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352492,8 +367475,10 @@ is_obsolete: true id: MONDO:0018291 name: obsolete congenital disorder of glycosylation with intestinal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' +subset: gard_rare {source="GARD:21608"} subset: ordo_group_of_disorders {source="Orphanet:371188"} synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188] +xref: GARD:21608 {source="MONDO:obsoleteEquivalent", source="Orphanet:371188"} xref: ICD10CM:E77.8 {source="Orphanet:371188", source="Orphanet:371188/attributed", source="Orphanet:371188/ntbt"} xref: Orphanet:371188 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352505,7 +367490,9 @@ consider: MONDO:0015286 [Term] id: MONDO:0018292 name: obsolete congenital disorder of glycosylation-related bone disorder +subset: gard_rare {source="GARD:21609"} synonym: "CDG-related bone disorder" EXACT [Orphanet:371195] +xref: GARD:21609 {source="Orphanet:371195", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371195/attributed", source="Orphanet:371195/ntbt", source="Orphanet:371195"} xref: Orphanet:371195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -352521,8 +367508,10 @@ is_obsolete: true id: MONDO:0018293 name: obsolete congenital disorder of glycosylation with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' +subset: gard_rare {source="GARD:21610"} subset: ordo_group_of_disorders {source="Orphanet:371200"} synonym: "CDG with skin involvement" EXACT [Orphanet:371200] +xref: GARD:21610 {source="MONDO:obsoleteEquivalent", source="Orphanet:371200"} xref: ICD10CM:E77.8 {source="Orphanet:371200", source="Orphanet:371200/attributed", source="Orphanet:371200/ntbt"} xref: Orphanet:371200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352535,8 +367524,10 @@ consider: MONDO:0015286 id: MONDO:0018294 name: obsolete congenital disorder of glycosylation with nephropathy as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21611"} subset: ordo_group_of_disorders {source="Orphanet:371207"} synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207] +xref: GARD:21611 {source="MONDO:obsoleteEquivalent", source="Orphanet:371207"} xref: ICD10CM:E77.8 {source="Orphanet:371207/attributed", source="Orphanet:371207/ntbt", source="Orphanet:371207"} xref: Orphanet:371207 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352548,8 +367539,10 @@ is_obsolete: true id: MONDO:0018295 name: obsolete congenital disorder of glycosylation with deafness as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21612"} subset: ordo_group_of_disorders {source="Orphanet:371212"} synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212] +xref: GARD:21612 {source="MONDO:obsoleteEquivalent", source="Orphanet:371212"} xref: ICD10CM:E77.8 {source="Orphanet:371212", source="Orphanet:371212/attributed", source="Orphanet:371212/ntbt"} xref: Orphanet:371212 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352561,9 +367554,10 @@ is_obsolete: true id: MONDO:0018296 name: obsolete congenital disorder of glycosylation with developmental anomaly comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' -subset: gard_rare {source="GARD:0012782"} +subset: gard_rare {source="GARD:12782"} subset: ordo_group_of_disorders {source="Orphanet:371235"} synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235] +xref: GARD:12782 {source="MONDO:obsoleteEquivalent", source="Orphanet:371235"} xref: ICD10CM:E77.8 {source="Orphanet:371235", source="Orphanet:371235/attributed", source="Orphanet:371235/ntbt"} xref: Orphanet:371235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -352585,8 +367579,10 @@ replaced_by: MONDO:0014176 id: MONDO:0018298 name: multicentric osteolysis-nodulosis-arthropathy spectrum def: "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." [Orphanet:371428] +subset: gard_rare {source="GARD:17610"} subset: ordo_disease {source="Orphanet:371428"} synonym: "mona spectrum" EXACT [Orphanet:371428] +xref: GARD:17610 {source="Orphanet:371428"} xref: ICD10CM:Q85.9 {source="Orphanet:371428/attributed", source="Orphanet:371428/ntbt", source="Orphanet:371428"} xref: Orphanet:371428 {source="MONDO:equivalentTo"} xref: SCTID:716868003 {source="MONDO:equivalentTo"} @@ -352597,7 +367593,9 @@ is_a: MONDO:0019707 {source="Orphanet:371428"} ! primary osteolysis id: MONDO:0018299 name: obsolete sphingolipidosis with epilepsy subset: disease_grouping +subset: gard_rare {source="GARD:21615"} subset: ordo_group_of_disorders {source="Orphanet:371442"} +xref: GARD:21615 {source="MONDO:obsoleteEquivalent", source="Orphanet:371442"} xref: Orphanet:371442 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -352611,6 +367609,7 @@ replaced_by: MONDO:0016525 id: MONDO:0018301 name: interstitial cystitis def: "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." [Orphanet:37202] +subset: gard_rare {source="GARD:18825"} subset: ordo_disease {source="Orphanet:37202"} synonym: "bladder pain syndrome" EXACT [Orphanet:37202] synonym: "chronic interstitial cystitis" EXACT [MONDO:0006703] @@ -352624,6 +367623,7 @@ synonym: "ulcerative cystitis" EXACT [DOID:13949] xref: DOID:13949 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:1678 {source="MONDO:equivalentTo", source="EFO:1000869"} xref: EFO:1000869 {source="MONDO:equivalentTo"} +xref: GARD:18825 {source="Orphanet:37202"} xref: ICD10CM:N30.1 {source="Orphanet:37202/e", source="DOID:1678", source="Orphanet:37202"} xref: ICD9:595.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1678", source="EFO:1000869"} xref: MedDRA:10008927 {source="EFO:1000869"} @@ -352649,7 +367649,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare id: MONDO:0018302 name: acquired kinky hair syndrome def: "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." [Orphanet:37559] +subset: gard_rare {source="GARD:18826"} subset: ordo_disease {source="Orphanet:37559"} +xref: GARD:18826 {source="Orphanet:37559"} xref: ICD10CM:L67.8 {source="Orphanet:37559", source="Orphanet:37559/ntbt"} xref: Orphanet:37559 {source="MONDO:equivalentTo"} xref: UMLS:CN204889 {source="MONDO:equivalentTo"} @@ -352667,13 +367669,14 @@ replaced_by: MONDO:0000476 id: MONDO:0018304 name: Schnitzler syndrome def: "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." [Orphanet:37748] -subset: gard_rare {source="GARD:0012390"} +subset: gard_rare {source="GARD:12390"} subset: ordo_malformation_syndrome {source="Orphanet:37748"} synonym: "chronic urticaria with gammapathy" RELATED [GARD:0012390] synonym: "chronic urticaria with gammopathy" EXACT [Orphanet:37748] synonym: "chronic urticaria with macroglobulinemia" EXACT [Orphanet:37748] xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"} xref: EFO:1001165 {source="MONDO:equivalentTo"} +xref: GARD:12390 {source="Orphanet:37748"} xref: ICD10CM:L50.8 {source="Orphanet:37748", source="Orphanet:37748/ntbt"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062908 {source="Orphanet:37748", source="Orphanet:37748/e"} @@ -352692,7 +367695,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12390/schnit id: MONDO:0018305 name: chronic granulomatous disease def: "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." [Orphanet:379] -subset: gard_rare {source="GARD:0006100"} +subset: gard_rare {source="GARD:6100"} subset: ordo_disease {source="Orphanet:379"} synonym: "Bridges-Good syndrome" EXACT [DOID:3265] synonym: "CGD" EXACT ABBREVIATION [DOID:3265, NCIT:C26788, Orphanet:379] @@ -352701,6 +367704,7 @@ synonym: "congenital dysphagocytosis" EXACT [DOID:3265] synonym: "granulomatous disease, chronic" RELATED [GARD:0006100] synonym: "Quie syndrome" EXACT [DOID:3265] xref: DOID:3265 {source="MONDO:equivalentTo"} +xref: GARD:6100 {source="Orphanet:379"} xref: ICD10CM:D71 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/ntbt", source="Orphanet:379/inclusion"} xref: MedDRA:10008906 {source="Orphanet:379", source="Orphanet:379/e"} xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e"} @@ -352730,7 +367734,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6100/chronic id: MONDO:0018306 name: Griscelli syndrome def: "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." [Orphanet:381] -subset: gard_rare {source="GARD:0010913"} +subset: gard_rare {source="GARD:10913"} subset: ordo_disease {source="Orphanet:381"} synonym: "ChC)diak-Higashi-like syndrome" EXACT [Orphanet:381] synonym: "Chédiak-Higashi-like syndrome" EXACT [DOID:0060831] @@ -352741,6 +367745,7 @@ synonym: "Griscelli-Pruniéras syndrome" EXACT [DOID:0060831] synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831] synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381] xref: DOID:0060831 {source="MONDO:equivalentTo"} +xref: GARD:10913 {source="Orphanet:381"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="Orphanet:381", source="Orphanet:381/attributed", source="Orphanet:381/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:214450 {source="DOID:0060831", source="MONDO:equivalentTo"} @@ -352757,10 +367762,12 @@ name: neurodegeneration with brain iron accumulation def: "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." [Orphanet:385] comment: Editor note: check relationship to PKAN subset: disease_grouping +subset: gard_rare {source="GARD:11899"} subset: ordo_group_of_disorders {source="Orphanet:385"} synonym: "NBIA" EXACT ABBREVIATION [DOID:0110734, Orphanet:385] synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_PREFERRED [] xref: DOID:0110734 {source="MONDO:equivalentTo"} +xref: GARD:11899 {source="Orphanet:385"} xref: ICD10CM:G23.0 {source="DOID:0110734", source="Orphanet:385/attributed", source="Orphanet:385/ntbt", source="Orphanet:385"} xref: MESH:C538421 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:equivalentTo", source="Orphanet:385"} xref: OMIMPS:234200 {source="DOID:0110734", source="MONDO:equivalentTo"} @@ -352781,7 +367788,7 @@ id: MONDO:0018308 name: liver mesenchymal hamartoma def: "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." [NCIT:C5751] comment: Editor note: in NCIT this is classified as non-neoplastic -subset: gard_rare {source="GARD:0002651"} +subset: gard_rare {source="GARD:2651"} subset: ordo_disease {source="Orphanet:386"} synonym: "biliary hamartoma" EXACT [Orphanet:386] synonym: "hepatic cystic hamartoma" RELATED [Orphanet:386] @@ -352793,6 +367800,7 @@ synonym: "mesenchymal hamartoma of the liver" EXACT [NCIT:C5751] synonym: "MHL" EXACT ABBREVIATION [Orphanet:386] synonym: "VMC" EXACT ABBREVIATION [Orphanet:386] synonym: "Von Meyenburg complexes disease" EXACT [Orphanet:386] +xref: GARD:2651 {source="Orphanet:386"} xref: ICD10CM:D13.4 {source="Orphanet:386/btnt", source="Orphanet:386"} xref: NCIT:C5751 {source="MONDO:equivalentTo"} xref: Orphanet:386 {source="MONDO:equivalentTo"} @@ -352809,6 +367817,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2651/hepatic id: MONDO:0018309 name: Hirschsprung disease def: "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." [Orphanet:388] +subset: gard_rare {source="GARD:6660"} subset: ordo_disease {source="Orphanet:388"} synonym: "aganglionic megacolon" EXACT [DOID:10487, NCIT:C34700, Orphanet:388] synonym: "congenital intestinal aganglionosis" EXACT [Orphanet:388] @@ -352821,6 +367830,7 @@ synonym: "macrocolon" RELATED [DOID:10487] synonym: "pelvirectal achalasia" EXACT [DOID:10487] synonym: "total intestinal aganglionosis" NARROW EXCLUDE [DOID:10487] xref: DOID:10487 {source="MONDO:equivalentTo"} +xref: GARD:6660 {source="Orphanet:388"} xref: ICD10CM:Q43.1 {source="Orphanet:388/specific", source="Orphanet:388/e", source="DOID:10487", source="Orphanet:388"} xref: MedDRA:10010539 {source="Orphanet:388/e", source="Orphanet:388"} xref: MESH:D006627 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="DOID:10487", source="Orphanet:388"} @@ -352844,6 +367854,7 @@ name: Langerhans cell histiocytosis def: "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." [Orphanet:389] comment: We follow NCIT in classifying this as a neoplasm but this may be revisited subset: disease_grouping +subset: gard_rare {source="GARD:6858"} subset: ordo_group_of_disorders {source="Orphanet:389"} synonym: "histiocytosis X" EXACT [DOID:2571, NCIT:C3107, Orphanet:389] synonym: "Langerhan's cell histiocytosis" EXACT [DOID:2571] @@ -352878,6 +367889,7 @@ synonym: "letterer-Siwe disease of lymph nodes of multiple sites" EXACT [DOID:25 synonym: "letterer-Siwe disease of spleen" EXACT [DOID:2571] xref: DOID:2571 {source="MONDO:equivalentTo"} xref: EFO:1000318 {source="MONDO:equivalentTo"} +xref: GARD:6858 {source="Orphanet:389"} xref: ICD10CM:C96.0 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} xref: ICD10CM:C96.5 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} xref: ICD10CM:C96.6 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} @@ -352939,9 +367951,10 @@ relationship: excluded_subClassOf MONDO:0002332 {source="DOID:2571"} ! splenic d id: MONDO:0018311 name: acromelanosis def: "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." [Orphanet:39] -subset: gard_rare {source="GARD:0004500"} +subset: gard_rare {source="GARD:4500"} subset: ordo_disease {source="Orphanet:39"} synonym: "progressive acromelanosis" RELATED [GARD:0004500] +xref: GARD:4500 {source="Orphanet:39"} xref: ICD10CM:L81.4 {source="Orphanet:39", source="Orphanet:39/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:39 {source="MONDO:equivalentTo"} @@ -352954,6 +367967,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4500/acromel id: MONDO:0018312 name: histoplasmosis def: "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." [NCIT:C77201] +subset: gard_rare {source="GARD:18692"} subset: ordo_disease {source="Orphanet:390"} synonym: "darling disease" EXACT [Orphanet:390] synonym: "Histoplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -352961,6 +367975,7 @@ synonym: "Histoplasma disease or disorder" EXACT [] synonym: "Histoplasma infectious disease" EXACT [] xref: DOID:1731 {source="MONDO:equivalentTo", source="EFO:0007310"} xref: EFO:0007310 {source="MONDO:equivalentTo"} +xref: GARD:18692 {source="Orphanet:390"} xref: ICD10CM:B39 {source="DOID:1731", source="MONDO:equivalentTo"} xref: ICD10CM:B39.0 {source="Orphanet:390", source="Orphanet:390/btnt"} xref: ICD10CM:B39.1 {source="Orphanet:390", source="Orphanet:390/btnt"} @@ -353006,7 +368021,9 @@ replaced_by: MONDO:0006486 id: MONDO:0018314 name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression def: "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." [Orphanet:391316] +subset: gard_rare {source="GARD:21619"} subset: ordo_disease {source="Orphanet:391316"} +xref: GARD:21619 {source="Orphanet:391316"} xref: ICD10CM:G40.2 {source="Orphanet:391316/attributed", source="Orphanet:391316/ntbt", source="Orphanet:391316"} xref: Orphanet:391316 {source="MONDO:equivalentTo"} xref: UMLS:CN204956 {source="MONDO:equivalentTo"} @@ -353017,7 +368034,9 @@ relationship: has_characteristic HP:0003593 {source="Orphanet:391316"} ! Infanti [Term] id: MONDO:0018315 name: X-linked osteoporosis with fractures +subset: gard_rare {source="GARD:17614"} subset: ordo_disease {source="Orphanet:391330"} +xref: GARD:17614 {source="Orphanet:391330"} xref: OMIM:300910 {source="MONDO:relatedTo", source="Orphanet:391330", source="Orphanet:391330/nd"} xref: Orphanet:391330 {source="MONDO:equivalentTo"} is_a: MONDO:0005298 {source="https://orcid.org/0000-0001-5208-3432"} ! osteoporosis @@ -353027,7 +368046,9 @@ relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:391330"} ! obs [Term] id: MONDO:0018316 name: fatal post-viral neurodegenerative disorder +subset: gard_rare {source="GARD:21620"} subset: ordo_disease {source="Orphanet:391343"} +xref: GARD:21620 {source="Orphanet:391343"} xref: ICD10CM:G04.8 {source="Orphanet:391343", source="Orphanet:391343/attributed", source="Orphanet:391343/ntbt"} xref: Orphanet:391343 {source="MONDO:equivalentTo"} xref: UMLS:CN204961 {source="MONDO:equivalentTo"} @@ -353037,7 +368058,9 @@ is_a: MONDO:0024237 {source="Orphanet:391343"} ! inherited neurodegenerative dis id: MONDO:0018317 name: growth retardation-mild developmental delay-chronic hepatitis syndrome comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:21621"} subset: ordo_disease {source="Orphanet:391366"} +xref: GARD:21621 {source="Orphanet:391366"} xref: Orphanet:391366 {source="MONDO:equivalentTo"} xref: UMLS:CN204964 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -353051,6 +368074,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018318 name: obsolete disorder of asparagine metabolism +subset: gard_rare {source="GARD:21622"} +xref: GARD:21622 {source="Orphanet:391381", source="MONDO:obsoleteEquivalent"} xref: Orphanet:391381 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227320 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353062,10 +368087,11 @@ is_obsolete: true [Term] id: MONDO:0018319 name: familial episodic pain syndrome -subset: gard_rare {source="GARD:0012684"} +subset: gard_rare {source="GARD:12684"} subset: ordo_disease {source="Orphanet:391384"} synonym: "FEPS" EXACT ABBREVIATION [Orphanet:391384] xref: DOID:0111728 {source="MONDO:equivalentTo"} +xref: GARD:12684 {source="Orphanet:391384"} xref: ICD10CM:M79.6 {source="Orphanet:391384", source="Orphanet:391384/attributed", source="Orphanet:391384/ntbt"} xref: OMIMPS:615040 {source="MONDO:equivalentTo"} xref: Orphanet:391384 {source="MONDO:equivalentTo"} @@ -353079,7 +368105,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12684/famili [Term] id: MONDO:0018320 name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome +subset: gard_rare {source="GARD:17620"} subset: ordo_disease {source="Orphanet:391408"} +xref: GARD:17620 {source="Orphanet:391408"} xref: ICD10CM:Q87.8 {source="Orphanet:391408", source="Orphanet:391408/attributed", source="Orphanet:391408/ntbt"} xref: Orphanet:391408 {source="MONDO:equivalentTo"} xref: UMLS:CN204971 {source="MONDO:equivalentTo"} @@ -353095,7 +368123,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018321 name: atypical juvenile parkinsonism def: "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." [Orphanet:391411] +subset: gard_rare {source="GARD:17621"} subset: ordo_disease {source="Orphanet:391411"} +xref: GARD:17621 {source="Orphanet:391411"} xref: ICD10CM:G20 {source="Orphanet:391411", source="Orphanet:391411/attributed", source="Orphanet:391411/ntbt"} xref: Orphanet:391411 {source="MONDO:equivalentTo"} xref: SCTID:725146001 {source="MONDO:equivalentTo"} @@ -353107,6 +368137,7 @@ is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder id: MONDO:0018322 name: HSD10 disease, infantile type def: "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." [Orphanet:391428] +subset: gard_rare {source="GARD:17622"} subset: ordo_clinical_subtype {source="Orphanet:391428"} synonym: "2-methyl-3-hydroxybutyric aciduria, classic type" EXACT [Orphanet:391428] synonym: "2-methyl-3-hydroxybutyric aciduria, infantile type" EXACT [Orphanet:391428] @@ -353117,6 +368148,7 @@ synonym: "HSD10 deficiency, infantile type" EXACT [Orphanet:391428] synonym: "HSD10 disease, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, infantile type" EXACT [Orphanet:391428] +xref: GARD:17622 {source="Orphanet:391428"} xref: ICD10CM:E72.8 {source="Orphanet:391428", source="Orphanet:391428/attributed", source="Orphanet:391428/ntbt"} xref: Orphanet:391428 {source="MONDO:equivalentTo"} xref: UMLS:CN204974 {source="MONDO:equivalentTo"} @@ -353127,11 +368159,13 @@ property_value: confidence "1.0" xsd:double id: MONDO:0018323 name: HSD10 disease, neonatal type def: "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." [Orphanet:391457] +subset: gard_rare {source="GARD:17623"} subset: ordo_clinical_subtype {source="Orphanet:391457"} synonym: "2-methyl-3-hydroxybutyric aciduria, neonatal type" EXACT [Orphanet:391457] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "HSD10 deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "MHBD deficiency, neonatal type" EXACT [Orphanet:391457] +xref: GARD:17623 {source="Orphanet:391457"} xref: ICD10CM:E72.8 {source="Orphanet:391457/attributed", source="Orphanet:391457/ntbt", source="Orphanet:391457"} xref: Orphanet:391457 {source="MONDO:equivalentTo"} xref: UMLS:CN204975 {source="MONDO:equivalentTo"} @@ -353142,9 +368176,11 @@ property_value: confidence "1.0" xsd:double id: MONDO:0018324 name: adult-onset myasthenia gravis def: "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." [Orphanet:391490] +subset: gard_rare {source="GARD:21623"} subset: ordo_clinical_subtype {source="Orphanet:391490"} synonym: "adult-onset acquired myasthenia" EXACT [Orphanet:391490] synonym: "adult-onset autoimmune myasthenia gravis" EXACT [Orphanet:391490] +xref: GARD:21623 {source="Orphanet:391490"} xref: ICD10CM:G70.0 {source="Orphanet:391490/ntbt", source="Orphanet:391490"} xref: Orphanet:391490 {source="MONDO:equivalentTo"} is_a: MONDO:0009688 {source="Orphanet:391490"} ! myasthenia gravis @@ -353155,6 +368191,7 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0018325 name: juvenile myasthenia gravis def: "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." [Orphanet:391497] +subset: gard_rare {source="GARD:21624"} subset: ordo_clinical_subtype {source="Orphanet:391497"} synonym: "childhood myasthenia gravis" EXACT [Orphanet:391497] synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497] @@ -353162,6 +368199,7 @@ synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497] synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric myasthenia gravis" EXACT OMO:0003005 [] synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +xref: GARD:21624 {source="Orphanet:391497"} xref: ICD10CM:G70.0 {source="Orphanet:391497", source="Orphanet:391497/ntbt"} xref: Orphanet:391497 {source="MONDO:equivalentTo"} is_a: MONDO:0009688 {source="MONDO:Redundant", source="Orphanet:391497"} ! myasthenia gravis @@ -353172,11 +368210,13 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0018326 name: transient neonatal myasthenia gravis def: "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." [Orphanet:391504] +subset: gard_rare {source="GARD:21625"} subset: ordo_clinical_subtype {source="Orphanet:391504"} synonym: "neonatal myasthenia gravis" BROAD [Orphanet:391504] synonym: "NMG" EXACT ABBREVIATION [Orphanet:391504] synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504] synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504] +xref: GARD:21625 {source="Orphanet:391504"} xref: ICD10CM:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="Orphanet:391504/e"} xref: NCIT:C117308 {source="MONDO:equivalentTo"} xref: Orphanet:391504 {source="MONDO:equivalentTo"} @@ -353190,10 +368230,12 @@ relationship: has_characteristic HP:0025153 ! Transient id: MONDO:0018327 name: glomus tumor def: "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." [NCIT:C3060] +subset: gard_rare {source="GARD:21626"} subset: ordo_disease {source="Orphanet:391651"} synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060] synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060] xref: DOID:2431 {source="MONDO:equivalentTo"} +xref: GARD:21626 {source="Orphanet:391651"} xref: ICD10CM:D18.0 {source="Orphanet:391651", source="Orphanet:391651/ntbt"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8711/0 {source="NCIT:C3060"} @@ -353213,9 +368255,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare [Term] id: MONDO:0018328 name: homozygous familial hypercholesterolemia +subset: gard_rare {source="GARD:10416"} subset: ordo_disease {source="Orphanet:391665"} synonym: "HoFH" EXACT [Orphanet:391665] synonym: "homozygous familial hypercholesterolemia" EXACT CLINGEN_PREFERRED [] +xref: GARD:10416 {source="Orphanet:391665"} xref: ICD10CM:E78.0 {source="Orphanet:391665/attributed", source="Orphanet:391665/ntbt", source="Orphanet:391665"} xref: MESH:D000090542 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:391665 {source="MONDO:equivalentTo"} @@ -353229,6 +368273,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018329 name: obsolete persistent combined dystonia +subset: gard_rare {source="GARD:21628"} +xref: GARD:21628 {source="MONDO:obsoleteEquivalent", source="Orphanet:391711"} xref: ICD10CM:G24.1 {source="Orphanet:391711/attributed", source="Orphanet:391711/ntbt", source="Orphanet:391711"} xref: Orphanet:391711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353241,10 +368287,12 @@ is_obsolete: true id: MONDO:0018330 name: mucinous adenocarcinoma of the appendix def: "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." [Orphanet:391723] +subset: gard_rare {source="GARD:21629"} subset: ordo_disease {source="Orphanet:391723"} synonym: "appendiceal mucinous adenocarcinoma" EXACT [Orphanet:391723] synonym: "appendix mucinous adenocarcinoma" EXACT [NCIT:C43558] synonym: "vermiform appendix mucinous adenocarcinoma" EXACT [MONDO:patterns/location] +xref: GARD:21629 {source="Orphanet:391723"} xref: ICD10CM:C18.1 {source="Orphanet:391723/ntbt", source="Orphanet:391723"} xref: NCIT:C43558 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:MAAP {source="MONDO:equivalentTo"} @@ -353265,10 +368313,12 @@ replaced_by: MONDO:0044807 [Term] id: MONDO:0018332 name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type +subset: gard_rare {source="GARD:17626"} subset: ordo_clinical_subtype {source="Orphanet:394529"} synonym: "glutaric aciduria type 2, severe neonatal type" EXACT [Orphanet:394529] synonym: "MAD deficiency, severe neonatal type" EXACT [Orphanet:394529] synonym: "MADD, severe neonatal type" EXACT [Orphanet:394529] +xref: GARD:17626 {source="Orphanet:394529"} xref: ICD10CM:E71.3 {source="Orphanet:394529", source="Orphanet:394529/attributed", source="Orphanet:394529/ntbt"} xref: Orphanet:394529 {source="MONDO:equivalentTo"} xref: UMLS:CN205004 {source="MONDO:equivalentTo"} @@ -353277,10 +368327,12 @@ is_a: MONDO:0009282 {source="Orphanet:394529"} ! multiple acyl-CoA dehydrogenase [Term] id: MONDO:0018333 name: multiple acyl-CoA dehydrogenase deficiency, mild type +subset: gard_rare {source="GARD:17627"} subset: ordo_clinical_subtype {source="Orphanet:394532"} synonym: "glutaric aciduria type 2, mild type" EXACT [Orphanet:394532] synonym: "MAD deficiency, mild type" EXACT [Orphanet:394532] synonym: "MADD, mild type" EXACT [Orphanet:394532] +xref: GARD:17627 {source="Orphanet:394532"} xref: ICD10CM:E71.3 {source="Orphanet:394532", source="Orphanet:394532/attributed", source="Orphanet:394532/ntbt"} xref: Orphanet:394532 {source="MONDO:equivalentTo"} xref: UMLS:CN205005 {source="MONDO:equivalentTo"} @@ -353290,13 +368342,14 @@ is_a: MONDO:0009282 {source="Orphanet:394532"} ! multiple acyl-CoA dehydrogenase id: MONDO:0018334 name: chronic hiccup def: "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." [Orphanet:396] -subset: gard_rare +subset: gard_rare {source="GARD:6657"} subset: ordo_disease {source="Orphanet:396"} synonym: "chronic hiccups" RELATED [GARD:0006657] synonym: "Hiccups, intractable" RELATED [GARD:0006657] synonym: "intractable hiccups" RELATED [GARD:0006657] synonym: "intractable singultus" RELATED [GARD:0006657] synonym: "persistent hiccups" RELATED [GARD:0006657] +xref: GARD:6657 {source="Orphanet:396"} xref: HP:0100247 {source="MONDO:otherHierarchy"} xref: Orphanet:396 {source="GARD:0006657", source="MONDO:equivalentTo"} xref: SCTID:716771000 {source="MONDO:equivalentTo"} @@ -353320,7 +368373,9 @@ replaced_by: MONDO:0021660 id: MONDO:0018336 name: obsolete Silver-Russell syndrome due to a point mutation comment: We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. +subset: gard_rare {source="GARD:17628"} subset: ordo_etiological_subtype {source="Orphanet:397590"} +xref: GARD:17628 {source="MONDO:obsoleteEquivalent", source="Orphanet:397590"} xref: ICD10CM:Q87.1 {source="Orphanet:397590/attributed", source="Orphanet:397590/ntbt", source="Orphanet:397590"} xref: Orphanet:397590 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN225933 {source="MONDO:obsoleteEquivalent"} @@ -353331,6 +368386,8 @@ consider: MONDO:0008394 [Term] id: MONDO:0018337 name: obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency +subset: gard_rare {source="GARD:17629"} +xref: GARD:17629 {source="Orphanet:397593", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E88.8 {source="Orphanet:397593", source="Orphanet:397593/attributed", source="Orphanet:397593/ntbt"} xref: Orphanet:397593 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353340,9 +368397,11 @@ is_obsolete: true [Term] id: MONDO:0018338 name: activated PI3K-delta syndrome +subset: gard_rare {source="GARD:11983"} subset: ordo_disease {source="Orphanet:397596"} synonym: "APDS" EXACT ABBREVIATION [Orphanet:397596] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [Orphanet:397596] +xref: GARD:11983 {source="Orphanet:397596"} xref: ICD10CM:D81.8 {source="Orphanet:397596", source="Orphanet:397596/attributed", source="Orphanet:397596/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C585640 {source="MONDO:equivalentTo"} @@ -353355,12 +368414,14 @@ is_a: MONDO:0015977 {source="Orphanet:397596"} ! agammaglobulinemia id: MONDO:0018339 name: PrP systemic amyloidosis def: "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." [Orphanet:397606] +subset: gard_rare {source="GARD:21632"} subset: ordo_disease {source="Orphanet:397606"} synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606] synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606] synonym: "chronic diarrhoea with hereditary sensory and autonomic neuropathy" EXACT OMO:0003005 [] synonym: "chronic diarrhoea with HSAN" EXACT OMO:0003005 [] synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606] +xref: GARD:21632 {source="Orphanet:397606"} xref: ICD10CM:G60.8 {source="Orphanet:397606/attributed", source="Orphanet:397606/ntbt", source="Orphanet:397606"} xref: Orphanet:397606 {source="MONDO:equivalentTo"} xref: SCTID:733422008 {source="MONDO:equivalentTo"} @@ -353376,6 +368437,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018340 name: obsolete hereditary isolated aplastic anemia +subset: gard_rare {source="GARD:17635"} +xref: GARD:17635 {source="Orphanet:397692", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D61.0 {source="Orphanet:397692", source="Orphanet:397692/ntbt", source="Orphanet:397692/inclusion"} xref: Orphanet:397692 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353388,8 +368451,10 @@ is_obsolete: true id: MONDO:0018341 name: 3q27.3 microdeletion syndrome def: "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." [Orphanet:397695] +subset: gard_rare {source="GARD:21633"} subset: ordo_disease {source="Orphanet:397695"} synonym: "Del(3)(q27.3)" EXACT [Orphanet:397695] +xref: GARD:21633 {source="Orphanet:397695"} xref: ICD10CM:Q93.5 {source="Orphanet:397695", source="Orphanet:397695/attributed", source="Orphanet:397695/ntbt"} xref: Orphanet:397695 {source="MONDO:equivalentTo"} xref: UMLS:CN225942 {source="MONDO:equivalentTo"} @@ -353405,9 +368470,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018342 name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy def: "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." [Orphanet:397715] +subset: gard_rare {source="GARD:17637"} subset: ordo_malformation_syndrome {source="Orphanet:397715"} synonym: "JBTS with JATD" EXACT [Orphanet:397715] synonym: "Joubert syndrome with JATD" EXACT [Orphanet:397715] +xref: GARD:17637 {source="Orphanet:397715"} xref: ICD10CM:Q04.3 {source="Orphanet:397715/attributed", source="Orphanet:397715/ntbt", source="Orphanet:397715"} xref: Orphanet:397715 {source="MONDO:equivalentTo"} xref: SCTID:733418003 {source="MONDO:equivalentTo"} @@ -353419,7 +368486,9 @@ is_a: MONDO:0015461 {source="Orphanet:397715"} ! short rib-polydactyly syndrome [Term] id: MONDO:0018343 name: periodic paralysis with later-onset distal motor neuropathy +subset: gard_rare {source="GARD:21634"} subset: ordo_disease {source="Orphanet:397750"} +xref: GARD:21634 {source="Orphanet:397750"} xref: ICD10CM:G72.3 {source="Orphanet:397750", source="Orphanet:397750/attributed", source="Orphanet:397750/ntbt"} xref: Orphanet:397750 {source="MONDO:equivalentTo"} is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:397750"} ! periodic paralysis @@ -353431,7 +368500,9 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0018344 name: obsolete periodic paralysis with transient compartment-like syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingPhenotype. Term to consider: -none +subset: gard_rare {source="GARD:21635"} subset: ordo_disease {source="Orphanet:397755"} +xref: GARD:21635 {source="MONDO:obsoleteEquivalent", source="Orphanet:397755"} xref: ICD10CM:G72.3 {source="Orphanet:397755", source="Orphanet:397755/attributed", source="Orphanet:397755/ntbt"} xref: Orphanet:397755 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226077 {source="MONDO:obsoleteEquivalent"} @@ -353451,9 +368522,11 @@ id: MONDO:0018346 name: ferro-cerebro-cutaneous syndrome def: "Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth." [Orphanet:397922] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:21637"} subset: ordo_disease {source="Orphanet:397922"} synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922] synonym: "FCCS" EXACT ABBREVIATION [OMIM:301072] +xref: GARD:21637 {source="Orphanet:397922"} xref: ICD10CM:G23.0 {source="Orphanet:397922/attributed", source="Orphanet:397922/ntbt", source="Orphanet:397922"} xref: OMIM:301072 {source="MONDO:equivalentTo"} xref: Orphanet:397922 {source="MONDO:equivalentTo"} @@ -353468,9 +368541,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018347 name: severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome +subset: gard_rare {source="GARD:13221"} subset: ordo_disease {source="Orphanet:397933"} synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933] synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933] +xref: GARD:13221 {source="Orphanet:397933"} xref: ICD10CM:Q87.8 {source="Orphanet:397933/attributed", source="Orphanet:397933/ntbt", source="Orphanet:397933"} xref: Orphanet:397933 {source="MONDO:equivalentTo"} xref: UMLS:CN226082 {source="MONDO:equivalentTo"} @@ -353489,7 +368564,7 @@ replaced_by: MONDO:0014389 id: MONDO:0018349 name: MAN1B1-congenital disorder of glycosylation def: "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." [Orphanet:397941] -subset: gard_rare {source="GARD:0012417"} +subset: gard_rare {source="GARD:12417"} subset: ordo_disease {source="Orphanet:397941"} synonym: "carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency" EXACT [Orphanet:397941] synonym: "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency" EXACT [Orphanet:397941] @@ -353497,6 +368572,7 @@ synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941] synonym: "MAN1B1-CDG" EXACT ABBREVIATION [Orphanet:397941] synonym: "MAN1B1-congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [Orphanet:397941] +xref: GARD:12417 {source="Orphanet:397941"} xref: ICD10CM:E77.8 {source="Orphanet:397941", source="Orphanet:397941/attributed", source="Orphanet:397941/ntbt"} xref: Orphanet:397941 {source="MONDO:equivalentTo"} xref: SCTID:733450008 {source="MONDO:equivalentTo"} @@ -353526,6 +368602,7 @@ replaced_by: MONDO:0002653 id: MONDO:0018352 name: squamous cell carcinoma of penis def: "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" [NCIT:C7729] +subset: gard_rare {source="GARD:21639"} subset: ordo_disease {source="Orphanet:398058"} synonym: "epidermoid carcinoma of penis" EXACT [NCIT:C7729] synonym: "epidermoid carcinoma of the penis" EXACT [NCIT:C7729] @@ -353542,6 +368619,7 @@ synonym: "PSCC" RELATED ABBREVIATION [ONCOTREE:PSCC] synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729] xref: DOID:5518 {source="MONDO:equivalentTo"} +xref: GARD:21639 {source="Orphanet:398058"} xref: ICD10CM:C60.0 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: ICD10CM:C60.1 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: ICD10CM:C60.2 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} @@ -353564,6 +368642,7 @@ intersection_of: disease_has_location UBERON:0000989 ! penis id: MONDO:0018353 name: refractory celiac disease def: "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] +subset: gard_rare {source="GARD:21640"} subset: ordo_disease {source="Orphanet:398063"} synonym: "intractable celiac sprue" EXACT [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "intractable coeliac sprue" EXACT OMO:0003005 [] @@ -353572,6 +368651,7 @@ synonym: "refractory sprue" EXACT [Orphanet:398063] synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "type II refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] xref: EFO:0009266 {source="MONDO:equivalentTo"} +xref: GARD:21640 {source="Orphanet:398063"} xref: ICD10CM:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063/ntbt", source="Orphanet:398063"} xref: Orphanet:398063 {source="MONDO:equivalentTo"} xref: UMLS:CN226092 {source="MONDO:equivalentTo"} @@ -353584,8 +368664,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare id: MONDO:0018354 name: Prader-Willi-like syndrome def: "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." [Orphanet:398073] +subset: gard_rare {source="GARD:21641"} subset: ordo_disease {source="Orphanet:398073"} synonym: "PWS-like" EXACT [Orphanet:398073] +xref: GARD:21641 {source="Orphanet:398073"} xref: ICD10CM:Q87.1 {source="Orphanet:398073/attributed", source="Orphanet:398073/ntbt", source="Orphanet:398073"} xref: Orphanet:398073 {source="MONDO:equivalentTo"} xref: UMLS:CN226094 {source="MONDO:equivalentTo"} @@ -353598,11 +368680,13 @@ relationship: has_characteristic MONDO:0021140 ! congenital [Term] id: MONDO:0018355 name: SIM1-related Prader-Willi-like syndrome +subset: gard_rare {source="GARD:21642"} subset: ordo_clinical_subtype {source="Orphanet:398079"} synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "PWS-like due to point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "SIM1-related PWLS" EXACT [Orphanet:398079] +xref: GARD:21642 {source="Orphanet:398079"} xref: ICD10CM:Q87.1 {source="Orphanet:398079/attributed", source="Orphanet:398079/ntbt", source="Orphanet:398079"} xref: Orphanet:398079 {source="MONDO:equivalentTo"} xref: UMLS:CN226095 {source="MONDO:equivalentTo"} @@ -353613,8 +368697,10 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0018356 name: secondary neonatal autoimmune disease subset: disease_grouping +subset: gard_rare {source="GARD:21643"} subset: ordo_group_of_disorders {source="Orphanet:398091"} synonym: "Transplacentally acquired neonatal autoimmune disease" EXACT [Orphanet:398091] +xref: GARD:21643 {source="Orphanet:398091"} xref: Orphanet:398091 {source="MONDO:equivalentTo"} xref: UMLS:CN226097 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:398091"} ! autoimmune disease @@ -353622,9 +368708,11 @@ is_a: MONDO:0007179 {source="Orphanet:398091"} ! autoimmune disease [Term] id: MONDO:0018357 name: neonatal antiphospholipid syndrome +subset: gard_rare {source="GARD:21644"} subset: ordo_disease {source="Orphanet:398097"} synonym: "neonatal antiphospholipid antibody syndrome" EXACT [Orphanet:398097] synonym: "neonatal Hughes syndrome" EXACT [Orphanet:398097] +xref: GARD:21644 {source="Orphanet:398097"} xref: ICD10CM:D68.6 {source="Orphanet:398097/ntbt", source="Orphanet:398097"} xref: Orphanet:398097 {source="MONDO:equivalentTo"} xref: UMLS:CN226098 {source="MONDO:equivalentTo"} @@ -353634,9 +368722,11 @@ is_a: MONDO:0021008 ! secondary antiphospholipid syndrome [Term] id: MONDO:0018358 name: neonatal autoimmune hemolytic anemia +subset: gard_rare {source="GARD:21645"} subset: ordo_disease {source="Orphanet:398109"} synonym: "neonatal AHA" EXACT [Orphanet:398109] synonym: "neonatal AIHA" EXACT [Orphanet:398109] +xref: GARD:21645 {source="Orphanet:398109"} xref: ICD10CM:D59.1 {source="Orphanet:398109/ntbt", source="Orphanet:398109"} xref: Orphanet:398109 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="MONDO:cjm"} ! hemolytic anemia @@ -353645,8 +368735,10 @@ is_a: MONDO:0018356 {source="Orphanet:398109"} ! secondary neonatal autoimmune d [Term] id: MONDO:0018359 name: neonatal dermatomyositis +subset: gard_rare {source="GARD:21646"} subset: ordo_disease {source="Orphanet:398117"} synonym: "neonatal DM" EXACT [Orphanet:398117] +xref: GARD:21646 {source="Orphanet:398117"} xref: ICD10CM:M33.1 {source="Orphanet:398117", source="Orphanet:398117/ntbt"} xref: Orphanet:398117 {source="MONDO:equivalentTo"} is_a: MONDO:0016367 {source="MONDO:cjm"} ! dermatomyositis @@ -353656,6 +368748,7 @@ is_a: MONDO:0018356 {source="Orphanet:398117"} ! secondary neonatal autoimmune d id: MONDO:0018360 name: neonatal lupus erythematosus def: "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." [NCIT:C99236] +subset: gard_rare {source="GARD:21647"} subset: ordo_disease {source="Orphanet:398124"} synonym: "congenital lupus" RELATED [GARD:0009563] synonym: "congenital lupus erythematosus" RELATED [GARD:0009563] @@ -353664,6 +368757,7 @@ synonym: "neonatal lupus syndrome" RELATED [GARD:0009563] synonym: "neonatal SLE" RELATED [GARD:0009563] synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563] xref: EFO:0004537 {source="MONDO:equivalentTo"} +xref: GARD:21647 {source="Orphanet:398124"} xref: ICD10CM:M32.8 {source="Orphanet:398124", source="Orphanet:398124/ntbt"} xref: MESH:C536397 {source="MONDO:equivalentTo"} xref: NCIT:C99236 {source="MONDO:equivalentTo", source="EFO:0004537"} @@ -353676,7 +368770,9 @@ is_a: MONDO:0018356 {source="Orphanet:398124"} ! secondary neonatal autoimmune d [Term] id: MONDO:0018361 name: neonatal scleroderma +subset: gard_rare {source="GARD:21648"} subset: ordo_disease {source="Orphanet:398127"} +xref: GARD:21648 {source="Orphanet:398127"} xref: ICD10CM:P83.8 {source="Orphanet:398127", source="Orphanet:398127/ntbt"} xref: Orphanet:398127 {source="MONDO:equivalentTo"} is_a: MONDO:0018356 {source="Orphanet:398127"} ! secondary neonatal autoimmune disease @@ -353686,10 +368782,12 @@ is_a: MONDO:0019340 {source="MONDO:cjm"} ! scleroderma id: MONDO:0018362 name: persistent idiopathic facial pain comment: Editor note: TODO add HPO class +subset: gard_rare {source="GARD:21649"} subset: ordo_disease {source="Orphanet:398147"} synonym: "AFP" EXACT ABBREVIATION [Orphanet:398147] synonym: "atypical facial pain" EXACT [Orphanet:398147] synonym: "PIFP" EXACT ABBREVIATION [Orphanet:398147] +xref: GARD:21649 {source="Orphanet:398147"} xref: ICD10CM:G50.1 {source="Orphanet:398147", source="Orphanet:398147/e"} xref: Orphanet:398147 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="Orphanet:398147"} ! nervous system disorder @@ -353700,8 +368798,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018363 name: focal facial dermal dysplasia def: "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." [Orphanet:398166] +subset: gard_rare {source="GARD:8416"} subset: ordo_malformation_syndrome {source="Orphanet:398166"} synonym: "FFDD" EXACT ABBREVIATION [Orphanet:398166] +xref: GARD:8416 {source="Orphanet:398166"} xref: ICD10CM:Q82.8 {source="Orphanet:398166", source="Orphanet:398166/attributed", source="Orphanet:398166/ntbt"} xref: MESH:C537068 {source="MONDO:equivalentTo"} xref: OMIMPS:136500 {source="MONDO:equivalentTo"} @@ -353716,6 +368816,7 @@ name: malignant epithelial tumor of ovary def: "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." [NCIT:C40026] comment: Editor note: check inference with carcinoma subset: disease_grouping +subset: gard_rare {source="GARD:9362"} subset: ordo_group_of_disorders {source="Orphanet:398934"} synonym: "epithelial cancer of ovary" EXACT [Orphanet:398934] synonym: "malignant ovarian epithelial tumor" EXACT [NCIT:C40026] @@ -353729,6 +368830,7 @@ synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934] synonym: "ovarian malignant epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian stromal cancer" EXACT [NCIT:C40026] xref: DOID:2151 {source="MONDO:equivalentTo"} +xref: GARD:9362 {source="Orphanet:398934"} xref: MESH:C538090 {source="MONDO:equivalentTo"} xref: NCIT:C40026 {source="MONDO:equivalentTo", source="DOID:2151"} xref: Orphanet:398934 {source="MONDO:equivalentTo"} @@ -353746,11 +368848,13 @@ id: MONDO:0018365 name: malignant non-epithelial tumor of ovary comment: Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma subset: disease_grouping +subset: gard_rare {source="GARD:21650"} subset: ordo_group_of_disorders {source="Orphanet:398940"} synonym: "non-epithelial cancer of ovary" EXACT [Orphanet:398940] synonym: "ovarian malignant non-epithelial tumor" EXACT [Orphanet:398940] synonym: "ovarian malignant non-epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian non-epithelial cancer" EXACT [Orphanet:398940] +xref: GARD:21650 {source="Orphanet:398940"} xref: Orphanet:398940 {source="MONDO:equivalentTo"} xref: UMLS:CN205032 {source="MONDO:equivalentTo"} is_a: MONDO:0008170 {source="Orphanet:398940"} ! ovarian cancer @@ -353770,6 +368874,7 @@ replaced_by: MONDO:0006045 [Term] id: MONDO:0018368 name: primary peritoneal serous/papillary carcinoma +subset: gard_rare {source="GARD:21653"} subset: ordo_disease {source="Orphanet:398980"} synonym: "peritoneal serous papillary adenocarcinoma" EXACT [MONDO:0003817] synonym: "PPSPC" EXACT ABBREVIATION [Orphanet:398980] @@ -353777,6 +368882,7 @@ synonym: "primary peritoneal serous papillary adenocarcinoma" EXACT [NCIT:C7695] synonym: "primary peritoneal serous papillary carcinoma" EXACT [NCIT:C7695] synonym: "primary serous papillary carcinoma of peritoneum" EXACT [DOID:6228, NCIT:C7695] xref: DOID:6228 {source="MONDO:equivalentTo"} +xref: GARD:21653 {source="Orphanet:398980"} xref: ICD10CM:C48.0 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} xref: ICD10CM:C48.1 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} xref: ICD10CM:C48.2 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} @@ -353794,6 +368900,7 @@ is_a: MONDO:0018364 {source="Orphanet:398980"} ! malignant epithelial tumor of o id: MONDO:0018369 name: immature ovarian teratoma def: "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients." [NCIT:C8111] +subset: gard_rare {source="GARD:21654"} subset: ordo_disease {source="Orphanet:398987"} synonym: "immature germ cell teratoma of ovary" EXACT [NCIT:C8111] synonym: "immature germ cell teratoma of the ovary" EXACT [NCIT:C8111] @@ -353813,6 +368920,7 @@ synonym: "ovarian immature teratoma" EXACT [NCIT:C8111, Orphanet:398987] synonym: "ovarian malignant teratoma" EXACT [Orphanet:398987] synonym: "ovary malignant teratoma" EXACT [MONDO:patterns/location] xref: DOID:6331 {source="MONDO:equivalentTo"} +xref: GARD:21654 {source="Orphanet:398987"} xref: ICD10CM:C56 {source="Orphanet:398987", source="Orphanet:398987/ntbt"} xref: NCIT:C8111 {source="MONDO:equivalentTo", source="DOID:6331"} xref: ONCOTREE:OIMT {source="MONDO:equivalentTo"} @@ -353830,7 +368938,9 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0018370 name: KLHL9-related early-onset distal myopathy def: "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." [Orphanet:399081] +subset: gard_rare {source="GARD:21655"} subset: ordo_disease {source="Orphanet:399081"} +xref: GARD:21655 {source="Orphanet:399081"} xref: ICD10CM:G71.0 {source="Orphanet:399081", source="Orphanet:399081/attributed", source="Orphanet:399081/ntbt"} xref: Orphanet:399081 {source="MONDO:equivalentTo"} xref: SCTID:763776004 {source="MONDO:equivalentTo"} @@ -353839,8 +368949,10 @@ is_a: MONDO:0016108 {source="Orphanet:399081"} ! autosomal dominant distal myopa [Term] id: MONDO:0018371 name: nebulin-related early-onset distal myopathy +subset: gard_rare {source="GARD:21656"} subset: ordo_disease {source="Orphanet:399103"} synonym: "distal nebulin myopathy" RELATED [Orphanet:399103] +xref: GARD:21656 {source="Orphanet:399103"} xref: ICD10CM:G71.0 {source="Orphanet:399103", source="Orphanet:399103/attributed", source="Orphanet:399103/ntbt"} xref: Orphanet:399103 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -353860,9 +368972,11 @@ id: MONDO:0018373 name: avascular necrosis def: "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." [NCIT:C34841] subset: disease_grouping +subset: gard_rare {source="GARD:21658"} subset: ordo_group_of_disorders {source="Orphanet:399164"} synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841] synonym: "AVN" EXACT ABBREVIATION [Orphanet:399164] +xref: GARD:21658 {source="Orphanet:399164"} xref: ICD10CM:M87.0 {source="Orphanet:399164/btnt", source="Orphanet:399164"} xref: ICD10CM:M87.1 {source="Orphanet:399164/btnt", source="Orphanet:399164"} xref: ICD10CM:M87.2 {source="Orphanet:399164/btnt", source="Orphanet:399164"} @@ -353879,8 +368993,10 @@ is_a: MONDO:0005380 {source="NCIT:C34841", source="Orphanet:399164"} ! osteonecr id: MONDO:0018374 name: secondary avascular necrosis subset: disease_grouping +subset: gard_rare {source="GARD:21659"} subset: ordo_group_of_disorders {source="Orphanet:399169"} synonym: "secondary AVN" EXACT [Orphanet:399169] +xref: GARD:21659 {source="Orphanet:399169"} xref: ICD10CM:M87.1 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} xref: ICD10CM:M87.2 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} xref: ICD10CM:M87.3 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} @@ -353890,8 +369006,10 @@ is_a: MONDO:0018373 {source="Orphanet:399169"} ! avascular necrosis [Term] id: MONDO:0018375 name: traumatic avascular necrosis +subset: gard_rare {source="GARD:21660"} subset: ordo_disease {source="Orphanet:399175"} synonym: "traumatic AVN" EXACT [Orphanet:399175] +xref: GARD:21660 {source="Orphanet:399175"} xref: ICD10CM:M87.2 {source="Orphanet:399175/e", source="Orphanet:399175"} xref: Orphanet:399175 {source="MONDO:equivalentTo"} is_a: MONDO:0018374 {source="Orphanet:399175"} ! secondary avascular necrosis @@ -353899,8 +369017,10 @@ is_a: MONDO:0018374 {source="Orphanet:399175"} ! secondary avascular necrosis [Term] id: MONDO:0018376 name: secondary non-traumatic avascular necrosis +subset: gard_rare {source="GARD:21661"} subset: ordo_disease {source="Orphanet:399180"} synonym: "secondary non-traumatic AVN" EXACT [Orphanet:399180] +xref: GARD:21661 {source="Orphanet:399180"} xref: ICD10CM:M87.1 {source="Orphanet:399180", source="Orphanet:399180/ntbt"} xref: ICD10CM:M87.3 {source="Orphanet:399180", source="Orphanet:399180/ntbt"} xref: Orphanet:399180 {source="MONDO:equivalentTo"} @@ -353910,7 +369030,9 @@ is_a: MONDO:0018374 {source="Orphanet:399180"} ! secondary avascular necrosis id: MONDO:0018377 name: obsolete rare hereditary disease with avascular necrosis subset: disease_grouping +subset: gard_rare {source="GARD:21662"} subset: ordo_group_of_disorders {source="Orphanet:399185"} +xref: GARD:21662 {source="MONDO:obsoleteEquivalent", source="Orphanet:399185"} xref: Orphanet:399185 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -353922,10 +369044,12 @@ is_obsolete: true id: MONDO:0018378 name: osteonecrosis of the jaw def: "An area of necrotic bone in the mandible or maxilla." [NCIT:C63924] +subset: gard_rare {source="GARD:21663"} subset: ordo_disease {source="Orphanet:399293"} synonym: "jaw osteonecrosis" EXACT [NCIT:C63924] synonym: "ONJ" EXACT ABBREVIATION [NCIT:C63924] synonym: "osteonecrosis of jaw" EXACT [NCIT:C63924] +xref: GARD:21663 {source="Orphanet:399293"} xref: ICD9:733.45 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C63924 {source="MONDO:equivalentTo"} xref: Orphanet:399293 {source="MONDO:equivalentTo"} @@ -353938,8 +369062,10 @@ is_a: MONDO:0018374 {source="Orphanet:399293"} ! secondary avascular necrosis id: MONDO:0018379 name: primary avascular necrosis subset: disease_grouping +subset: gard_rare {source="GARD:21664"} subset: ordo_group_of_disorders {source="Orphanet:399302"} synonym: "primary AVN" EXACT [Orphanet:399302] +xref: GARD:21664 {source="Orphanet:399302"} xref: ICD10CM:M87.8 {source="Orphanet:399302/ntbt", source="Orphanet:399302"} xref: Orphanet:399302 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 {source="Orphanet:399302"} ! avascular necrosis @@ -353947,8 +369073,10 @@ is_a: MONDO:0018373 {source="Orphanet:399302"} ! avascular necrosis [Term] id: MONDO:0018380 name: idiopathic avascular necrosis +subset: gard_rare {source="GARD:21665"} subset: ordo_disease {source="Orphanet:399307"} synonym: "idiopathic AVN" EXACT [Orphanet:399307] +xref: GARD:21665 {source="Orphanet:399307"} xref: ICD10CM:M87.0 {source="Orphanet:399307", source="Orphanet:399307/e"} xref: Orphanet:399307 {source="MONDO:equivalentTo"} is_a: MONDO:0018379 {source="Orphanet:399307"} ! primary avascular necrosis @@ -353959,7 +369087,7 @@ id: MONDO:0018381 name: osteochondrosis def: "A condition that is characterized by defective bone growth that affects the growth centers of bone." [NCIT:P378] subset: disease_grouping -subset: gard_rare {source="GARD:0012704"} +subset: gard_rare {source="GARD:12704"} subset: ordo_group_of_disorders {source="Orphanet:399319"} synonym: "apophysitis" EXACT [DOID:8125] synonym: "epiphyseal necrosis" EXACT [DOID:8125] @@ -353970,6 +369098,7 @@ synonym: "osteochondritis juvenilis" RELATED [DOID:8125] synonym: "osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [DOID:8125] xref: DOID:8125 {source="MONDO:equivalentTo"} xref: EFO:0008575 {source="MONDO:equivalentTo"} +xref: GARD:12704 {source="Orphanet:399319"} xref: ICD10CM:M42 {source="MONDO:equivalentTo"} xref: ICD10CM:M92 {source="DOID:8125"} xref: ICD10CM:M93.9 {source="Orphanet:399319/ntbt", source="Orphanet:399319", source="DOID:8125"} @@ -353992,6 +369121,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12704/osteoc id: MONDO:0018382 name: epiphysiolysis of the hip def: "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." [Orphanet:399329] +subset: gard_rare {source="GARD:21666"} subset: ordo_disease {source="Orphanet:399329"} synonym: "epiphysiolysis of the upper femur" EXACT [Orphanet:399329] synonym: "femoral head epiphysiolysis" EXACT [Orphanet:399329] @@ -354000,6 +369130,7 @@ synonym: "slipped capital femoral epiphysis" EXACT [Orphanet:399329] synonym: "slipped upper femoral epiphysis" EXACT [Orphanet:399329] synonym: "SufE" EXACT [Orphanet:399329] xref: EFO:1001317 {source="MONDO:equivalentTo"} +xref: GARD:21666 {source="Orphanet:399329"} xref: ICD10CM:M93.9 {source="Orphanet:399329", source="Orphanet:399329/ntbt"} xref: Orphanet:399329 {source="MONDO:equivalentTo"} xref: SCTID:26460006 {source="MONDO:equivalentTo"} @@ -354010,9 +369141,11 @@ id: MONDO:0018383 name: osteonecrosis of genetic origin def: "An instance of osteonecrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21667"} subset: ordo_group_of_disorders {source="Orphanet:399380"} synonym: "bone necrosis of genetic origin" EXACT [Orphanet:399380] synonym: "genetic osteonecrosis" EXACT [MONDO:patterns/genetic] +xref: GARD:21667 {source="Orphanet:399380"} xref: ICD10CM:M93.9 {source="Orphanet:399380/attributed", source="Orphanet:399380/ntbt", source="Orphanet:399380"} xref: Orphanet:399380 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="MONDO:Entailed", source="Orphanet:399380"} ! bone disorder @@ -354024,7 +369157,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015958"} ! rare id: MONDO:0018384 name: obsolete avascular necrosis of genetic origin def: "OBSOLETE. An instance of avascular necrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:21668"} synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic] +xref: GARD:21668 {source="Orphanet:399388", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M93.9 {source="Orphanet:399388/attributed", source="Orphanet:399388/ntbt", source="Orphanet:399388"} xref: Orphanet:399388 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354037,7 +369172,9 @@ is_obsolete: true id: MONDO:0018385 name: obsolete osteochondrosis of genetic origin def: "OBSOLETE. An instance of osteochondrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:21669"} synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic] +xref: GARD:21669 {source="MONDO:obsoleteEquivalent", source="Orphanet:399391"} xref: ICD10CM:M93.9 {source="Orphanet:399391/attributed", source="Orphanet:399391/ntbt", source="Orphanet:399391"} xref: Orphanet:399391 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354050,9 +369187,11 @@ is_obsolete: true id: MONDO:0018386 name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder subset: disease_grouping +subset: gard_rare {source="GARD:21670"} subset: ordo_group_of_disorders {source="Orphanet:399572"} synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [Orphanet:399572] synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [Orphanet:399572] +xref: GARD:21670 {source="MONDO:obsoleteEquivalent", source="Orphanet:399572"} xref: ICD10CM:N46 {source="Orphanet:399572/ntbt", source="Orphanet:399572"} xref: Orphanet:399572 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227334 {source="MONDO:obsoleteEquivalent"} @@ -354065,7 +369204,9 @@ is_obsolete: true id: MONDO:0018387 name: obsolete rare male infertility due to adrenal disorder subset: disease_grouping +subset: gard_rare {source="GARD:21671"} subset: ordo_group_of_disorders {source="Orphanet:399584"} +xref: GARD:21671 {source="Orphanet:399584", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399584", source="Orphanet:399584/ntbt"} xref: Orphanet:399584 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227335 {source="MONDO:obsoleteEquivalent"} @@ -354078,7 +369219,9 @@ is_obsolete: true id: MONDO:0018388 name: obsolete rare male infertility due to testicular endocrine disorder subset: disease_grouping +subset: gard_rare {source="GARD:21672"} subset: ordo_group_of_disorders {source="Orphanet:399685"} +xref: GARD:21672 {source="Orphanet:399685", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399685/attributed", source="Orphanet:399685/ntbt", source="Orphanet:399685"} xref: Orphanet:399685 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227336 {source="MONDO:obsoleteEquivalent"} @@ -354091,8 +369234,10 @@ is_obsolete: true id: MONDO:0018389 name: obsolete male infertility due to gonadal dysgenesis or sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:21673"} subset: ordo_group_of_disorders {source="Orphanet:399764"} synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764] +xref: GARD:21673 {source="MONDO:obsoleteEquivalent", source="Orphanet:399764"} xref: ICD10CM:N46 {source="Orphanet:399764/attributed", source="Orphanet:399764/ntbt", source="Orphanet:399764"} xref: Orphanet:399764 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227337 {source="MONDO:obsoleteEquivalent"} @@ -354105,7 +369250,9 @@ consider: MONDO:0005372 id: MONDO:0018390 name: obsolete male infertility due to sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:21674"} subset: ordo_group_of_disorders {source="Orphanet:399771"} +xref: GARD:21674 {source="Orphanet:399771", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399771", source="Orphanet:399771/attributed", source="Orphanet:399771/ntbt"} xref: Orphanet:399771 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227338 {source="MONDO:obsoleteEquivalent"} @@ -354118,7 +369265,9 @@ consider: MONDO:0005372 id: MONDO:0018391 name: obsolete male infertility with spermatogenesis disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:21675"} subset: ordo_group_of_disorders {source="Orphanet:399775"} +xref: GARD:21675 {source="MONDO:obsoleteEquivalent", source="Orphanet:399775"} xref: ICD10CM:N46 {source="Orphanet:399775/attributed", source="Orphanet:399775/ntbt", source="Orphanet:399775"} xref: Orphanet:399775 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227339 {source="MONDO:obsoleteEquivalent"} @@ -354131,8 +369280,9 @@ consider: MONDO:0005372 id: MONDO:0018392 name: obsolete male infertility with spermatogenesis disorder due to single gene mutation comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' -subset: gard_rare {source="GARD:0012513"} +subset: gard_rare {source="GARD:12513"} subset: ordo_group_of_disorders {source="Orphanet:399786"} +xref: GARD:12513 {source="MONDO:obsoleteEquivalent", source="Orphanet:399786"} xref: ICD10CM:N46 {source="Orphanet:399786/attributed", source="Orphanet:399786/ntbt", source="Orphanet:399786"} xref: Orphanet:399786 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227340 {source="MONDO:obsoleteEquivalent"} @@ -354146,6 +369296,8 @@ consider: MONDO:0005372 id: MONDO:0018393 name: obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation def: "OBSOLETE. Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805] +subset: gard_rare {source="GARD:8530"} +xref: GARD:8530 {source="MONDO:obsoleteEquivalent", source="Orphanet:399805"} xref: ICD10CM:N46 {source="Orphanet:399805/attributed", source="Orphanet:399805/ntbt", source="Orphanet:399805"} xref: Orphanet:399805 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN225947 {source="MONDO:obsoleteEquivalent"} @@ -354158,7 +369310,9 @@ is_obsolete: true id: MONDO:0018394 name: male infertility with teratozoospermia due to single gene mutation def: "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." [Orphanet:399808] +subset: gard_rare {source="GARD:17654"} subset: ordo_disease {source="Orphanet:399808"} +xref: GARD:17654 {source="Orphanet:399808"} xref: ICD10CM:N46 {source="Orphanet:399808/attributed", source="Orphanet:399808/ntbt", source="Orphanet:399808"} xref: Orphanet:399808 {source="MONDO:equivalentTo"} xref: SCTID:764096006 {source="MONDO:equivalentTo"} @@ -354169,8 +369323,10 @@ is_a: MONDO:0005372 {source="Orphanet:399808"} ! male infertility id: MONDO:0018395 name: obsolete male infertility due to sperm motility disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:21676"} subset: ordo_group_of_disorders {source="Orphanet:399813"} synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813] +xref: GARD:21676 {source="MONDO:obsoleteEquivalent", source="Orphanet:399813"} xref: ICD10CM:N46 {source="Orphanet:399813", source="Orphanet:399813/attributed", source="Orphanet:399813/ntbt"} xref: Orphanet:399813 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227341 {source="MONDO:obsoleteEquivalent"} @@ -354183,9 +369339,11 @@ consider: MONDO:0005372 id: MONDO:0018396 name: obsolete rare male fertility disorder with obstructive azoospermia subset: disease_grouping +subset: gard_rare {source="GARD:21677"} subset: ordo_group_of_disorders {source="Orphanet:399824"} synonym: "rare disorder due to impaired sperm transport" EXACT [Orphanet:399824] synonym: "rare disorder with obstructive azoospermia" RELATED [Orphanet:399824] +xref: GARD:21677 {source="MONDO:obsoleteEquivalent", source="Orphanet:399824"} xref: Orphanet:399824 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354197,9 +369355,11 @@ is_obsolete: true id: MONDO:0018397 name: obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder subset: disease_grouping +subset: gard_rare {source="GARD:21678"} subset: ordo_group_of_disorders {source="Orphanet:399831"} synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [Orphanet:399831] synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [Orphanet:399831] +xref: GARD:21678 {source="MONDO:obsoleteEquivalent", source="Orphanet:399831"} xref: ICD10CM:N97.0 {source="Orphanet:399831/ntbt", source="Orphanet:399831"} xref: Orphanet:399831 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227343 {source="MONDO:obsoleteEquivalent"} @@ -354212,8 +369372,10 @@ is_obsolete: true id: MONDO:0018398 name: obsolete female infertility due to a congenital hypogonadotropic hypogonadism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' +subset: gard_rare {source="GARD:21679"} subset: ordo_group_of_disorders {source="Orphanet:399846", source="Orphanet:399839"} synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846] +xref: GARD:21679 {source="MONDO:obsoleteEquivalent", source="Orphanet:399839"} xref: ICD10CM:N97.0 {source="Orphanet:399839/attributed", source="Orphanet:399839/ntbt", source="Orphanet:399839"} xref: Orphanet:399839 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354234,7 +369396,9 @@ replaced_by: MONDO:0018398 id: MONDO:0018400 name: obsolete rare female infertility due to an adrenal disorder subset: disease_grouping +subset: gard_rare {source="GARD:21681"} subset: ordo_group_of_disorders {source="Orphanet:399849"} +xref: GARD:21681 {source="MONDO:obsoleteEquivalent", source="Orphanet:399849"} xref: Orphanet:399849 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354246,7 +369410,9 @@ is_obsolete: true id: MONDO:0018401 name: obsolete female infertility due to an anomaly of ovarian function subset: disease_grouping +subset: gard_rare {source="GARD:21682"} subset: ordo_group_of_disorders {source="Orphanet:399853"} +xref: GARD:21682 {source="MONDO:obsoleteEquivalent", source="Orphanet:399853"} xref: ICD10CM:N97.0 {source="Orphanet:399853/ntbt", source="Orphanet:399853"} xref: Orphanet:399853 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227347 {source="MONDO:obsoleteEquivalent"} @@ -354259,10 +369425,12 @@ is_obsolete: true id: MONDO:0018402 name: obsolete female infertility due to gonadal dysgenesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' +subset: gard_rare {source="GARD:21683"} subset: ordo_group_of_disorders {source="Orphanet:399877"} synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877] synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] +xref: GARD:21683 {source="MONDO:obsoleteEquivalent", source="Orphanet:399877"} xref: ICD10CM:N97.0 {source="Orphanet:399877", source="Orphanet:399877/attributed", source="Orphanet:399877/ntbt"} xref: Orphanet:399877 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354274,8 +369442,10 @@ consider: MONDO:0021124 id: MONDO:0018403 name: obsolete female infertility due to an implantation defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' +subset: gard_rare {source="GARD:21684"} subset: ordo_group_of_disorders {source="Orphanet:399882"} synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882] +xref: GARD:21684 {source="Orphanet:399882", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="Orphanet:399882/ntbt"} xref: Orphanet:399882 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354288,8 +369458,10 @@ id: MONDO:0018404 name: obsolete rare genetic male infertility def: "OBSOLETE. Rare genetic male infertility." [] subset: disease_grouping +subset: gard_rare {source="GARD:21685"} subset: ordo_group_of_disorders {source="Orphanet:399980"} synonym: "rare genetic male infertility" EXACT [] +xref: GARD:21685 {source="Orphanet:399980", source="MONDO:obsoleteEquivalent"} xref: Orphanet:399980 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227349 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -354301,10 +369473,12 @@ id: MONDO:0018405 name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin def: "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21686"} subset: ordo_group_of_disorders {source="Orphanet:399983"} synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983] synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983] +xref: GARD:21686 {source="Orphanet:399983", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399983", source="Orphanet:399983/attributed", source="Orphanet:399983/ntbt"} xref: Orphanet:399983 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227350 {source="MONDO:obsoleteEquivalent"} @@ -354317,7 +369491,9 @@ is_obsolete: true id: MONDO:0018406 name: obsolete rare male infertility due to adrenal disorder of genetic origin subset: disease_grouping +subset: gard_rare {source="GARD:21687"} subset: ordo_group_of_disorders {source="Orphanet:399994"} +xref: GARD:21687 {source="Orphanet:399994", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399994", source="Orphanet:399994/attributed", source="Orphanet:399994/ntbt"} xref: Orphanet:399994 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227351 {source="MONDO:obsoleteEquivalent"} @@ -354330,8 +369506,10 @@ is_obsolete: true id: MONDO:0018407 name: obsolete male infertility due to obstructive azoospermia of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:21688"} subset: ordo_group_of_disorders {source="Orphanet:399998"} synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998] +xref: GARD:21688 {source="MONDO:obsoleteEquivalent", source="Orphanet:399998"} xref: ICD10CM:N46 {source="Orphanet:399998", source="Orphanet:399998/attributed", source="Orphanet:399998/ntbt"} xref: Orphanet:399998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354342,7 +369520,7 @@ consider: MONDO:0005372 [Term] id: MONDO:0018408 name: cystic echinococcosis -subset: gard_rare +subset: gard_rare {source="GARD:2764"} subset: ordo_disease {source="Orphanet:400"} synonym: "echinococcus granulosus" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection" EXACT [DOID:1495] @@ -354360,6 +369538,7 @@ synonym: "thyroid echinococcus granulosus" EXACT [DOID:1495] synonym: "unilocular echinococcosis" EXACT [DOID:1495] synonym: "unilocular hydatid disease" EXACT [DOID:1495] xref: DOID:1495 {source="MONDO:equivalentTo"} +xref: GARD:2764 {source="Orphanet:400"} xref: ICD10CM:B67.0 {source="Orphanet:400", source="Orphanet:400/btnt"} xref: ICD10CM:B67.1 {source="Orphanet:400", source="Orphanet:400/btnt"} xref: ICD10CM:B67.2 {source="Orphanet:400", source="Orphanet:400/btnt"} @@ -354395,8 +369574,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare id: MONDO:0018409 name: obsolete rare genetic disorder with obstructive azoospermia subset: disease_grouping +subset: gard_rare {source="GARD:21689"} subset: ordo_group_of_disorders {source="Orphanet:400003"} synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003] +xref: GARD:21689 {source="Orphanet:400003", source="MONDO:obsoleteEquivalent"} xref: Orphanet:400003 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227352 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354408,7 +369589,9 @@ is_obsolete: true id: MONDO:0018410 name: obsolete rare genetic female infertility subset: disease_grouping +subset: gard_rare {source="GARD:21690"} subset: ordo_group_of_disorders {source="Orphanet:400008"} +xref: GARD:21690 {source="MONDO:obsoleteEquivalent", source="Orphanet:400008"} xref: Orphanet:400008 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227353 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -354420,10 +369603,12 @@ id: MONDO:0018411 name: obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin def: "OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21691"} subset: ordo_group_of_disorders {source="Orphanet:400011"} synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011] synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011] +xref: GARD:21691 {source="MONDO:obsoleteEquivalent", source="Orphanet:400011"} xref: ICD10CM:N97.0 {source="Orphanet:400011/attributed", source="Orphanet:400011/ntbt", source="Orphanet:400011"} xref: Orphanet:400011 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227354 {source="MONDO:obsoleteEquivalent"} @@ -354436,7 +369621,9 @@ is_obsolete: true id: MONDO:0018412 name: obsolete rare female infertility due to adrenal disorder of genetic origin subset: disease_grouping +subset: gard_rare {source="GARD:21692"} subset: ordo_group_of_disorders {source="Orphanet:400018"} +xref: GARD:21692 {source="MONDO:obsoleteEquivalent", source="Orphanet:400018"} xref: Orphanet:400018 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354448,7 +369635,9 @@ is_obsolete: true id: MONDO:0018413 name: obsolete female infertility due to an anomaly of ovarian function of genetic origin subset: disease_grouping +subset: gard_rare {source="GARD:21693"} subset: ordo_group_of_disorders {source="Orphanet:400022"} +xref: GARD:21693 {source="MONDO:obsoleteEquivalent", source="Orphanet:400022"} xref: ICD10CM:N97.0 {source="Orphanet:400022/attributed", source="Orphanet:400022/ntbt", source="Orphanet:400022"} xref: Orphanet:400022 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227356 {source="MONDO:obsoleteEquivalent"} @@ -354461,7 +369650,9 @@ is_obsolete: true id: MONDO:0018414 name: obsolete female infertility due to an implantation defect of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' +subset: gard_rare {source="GARD:21694"} subset: ordo_group_of_disorders {source="Orphanet:400025"} +xref: GARD:21694 {source="Orphanet:400025", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="Orphanet:400025/attributed", source="Orphanet:400025/ntbt"} xref: Orphanet:400025 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354478,8 +369669,10 @@ replaced_by: MONDO:0005802 [Term] id: MONDO:0018416 name: autosomal recessive spastic paraplegia type 59 +subset: gard_rare {source="GARD:21695"} subset: ordo_disease {source="Orphanet:401795"} synonym: "SPG59" EXACT ABBREVIATION [Orphanet:401795] +xref: GARD:21695 {source="Orphanet:401795"} xref: ICD10CM:G11.4 {source="Orphanet:401795", source="Orphanet:401795/attributed", source="Orphanet:401795/ntbt"} xref: Orphanet:401795 {source="MONDO:equivalentTo"} xref: UMLS:CN226121 {source="MONDO:equivalentTo"} @@ -354494,8 +369687,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018417 name: autosomal recessive spastic paraplegia type 60 +subset: gard_rare {source="GARD:21696"} subset: ordo_disease {source="Orphanet:401800"} synonym: "SPG60" EXACT ABBREVIATION [Orphanet:401800] +xref: GARD:21696 {source="Orphanet:401800"} xref: ICD10CM:G11.4 {source="Orphanet:401800/attributed", source="Orphanet:401800/ntbt", source="Orphanet:401800"} xref: Orphanet:401800 {source="MONDO:equivalentTo"} xref: UMLS:CN226122 {source="MONDO:equivalentTo"} @@ -354510,8 +369705,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018418 name: autosomal recessive spastic paraplegia type 66 +subset: gard_rare {source="GARD:21697"} subset: ordo_disease {source="Orphanet:401815"} synonym: "SPG66" EXACT ABBREVIATION [Orphanet:401815] +xref: GARD:21697 {source="Orphanet:401815"} xref: ICD10CM:G11.4 {source="Orphanet:401815", source="Orphanet:401815/attributed", source="Orphanet:401815/ntbt"} xref: Orphanet:401815 {source="MONDO:equivalentTo"} xref: UMLS:CN226125 {source="MONDO:equivalentTo"} @@ -354527,8 +369724,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018419 name: autosomal recessive spastic paraplegia type 67 def: "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." [Orphanet:401820] +subset: gard_rare {source="GARD:21698"} subset: ordo_disease {source="Orphanet:401820"} synonym: "SPG67" EXACT ABBREVIATION [Orphanet:401820] +xref: GARD:21698 {source="Orphanet:401820"} xref: ICD10CM:G11.4 {source="Orphanet:401820", source="Orphanet:401820/attributed", source="Orphanet:401820/ntbt"} xref: Orphanet:401820 {source="MONDO:equivalentTo"} xref: SCTID:766767001 {source="MONDO:equivalentTo"} @@ -354560,8 +369759,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018421 name: autosomal recessive spastic paraplegia type 69 +subset: gard_rare {source="GARD:21699"} subset: ordo_disease {source="Orphanet:401830"} synonym: "SPG69" EXACT ABBREVIATION [Orphanet:401830] +xref: GARD:21699 {source="Orphanet:401830"} xref: ICD10CM:G11.4 {source="Orphanet:401830/attributed", source="Orphanet:401830/ntbt", source="Orphanet:401830"} xref: Orphanet:401830 {source="MONDO:equivalentTo"} xref: UMLS:CN226128 {source="MONDO:equivalentTo"} @@ -354577,8 +369778,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018422 name: autosomal recessive spastic paraplegia type 70 def: "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." [Orphanet:401835] +subset: gard_rare {source="GARD:21700"} subset: ordo_disease {source="Orphanet:401835"} synonym: "SPG70" EXACT ABBREVIATION [Orphanet:401835] +xref: GARD:21700 {source="Orphanet:401835"} xref: ICD10CM:G11.4 {source="Orphanet:401835", source="Orphanet:401835/attributed", source="Orphanet:401835/ntbt"} xref: Orphanet:401835 {source="MONDO:equivalentTo"} xref: UMLS:CN226129 {source="MONDO:equivalentTo"} @@ -354593,8 +369796,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018423 name: autosomal recessive spastic paraplegia type 71 +subset: gard_rare {source="GARD:21701"} subset: ordo_disease {source="Orphanet:401840"} synonym: "SPG71" EXACT ABBREVIATION [Orphanet:401840] +xref: GARD:21701 {source="Orphanet:401840"} xref: ICD10CM:G11.4 {source="Orphanet:401840", source="Orphanet:401840/attributed", source="Orphanet:401840/ntbt"} xref: Orphanet:401840 {source="MONDO:equivalentTo"} xref: UMLS:CN226130 {source="MONDO:equivalentTo"} @@ -354610,6 +369815,7 @@ id: MONDO:0018424 name: inherited lipoic acid biosynthesis defect def: "An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:12679"} subset: ordo_group_of_disorders {source="Orphanet:401854"} synonym: "inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipoate biosynthetic process disorder" EXACT [] @@ -354617,6 +369823,7 @@ synonym: "lipoate biosynthesis defect" EXACT [Orphanet:401854] synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854] synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679] synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:12679 {source="Orphanet:401854"} xref: ICD10CM:E88.8 {source="Orphanet:401854/attributed", source="Orphanet:401854/ntbt", source="Orphanet:401854"} xref: Orphanet:401854 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="Orphanet:401854"} ! inborn mitochondrial metabolism disorder @@ -354626,10 +369833,12 @@ intersection_of: disease_has_basis_in_disruption_of GO:0009107 ! lipoate biosynt [Term] id: MONDO:0018425 name: Huntington disease-like syndrome due to C9ORF72 expansions +subset: gard_rare {source="GARD:21702"} subset: ordo_disease {source="Orphanet:401901"} synonym: "C9ORF72-related Huntington disease phenocopy" EXACT [Orphanet:401901] synonym: "C9ORF72-related Huntington disease-like syndrome" EXACT [Orphanet:401901] synonym: "Huntington disease phenocopy due to C9ORF72 expansions" EXACT [Orphanet:401901] +xref: GARD:21702 {source="Orphanet:401901"} xref: ICD10CM:G10 {source="Orphanet:401901", source="Orphanet:401901/attributed", source="Orphanet:401901/ntbt"} xref: Orphanet:401901 {source="MONDO:equivalentTo"} xref: UMLS:CN226138 {source="MONDO:equivalentTo"} @@ -354641,10 +369850,12 @@ relationship: has_characteristic MONDO:0021136 ! rare [Term] id: MONDO:0018426 name: AXIN2-related attenuated familial adenomatous polyposis +subset: gard_rare {source="GARD:21703"} subset: ordo_clinical_subtype {source="Orphanet:401911"} synonym: "AXIN2-related AFAP" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated familial polyposis coli" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated FAP" EXACT [Orphanet:401911] +xref: GARD:21703 {source="Orphanet:401911"} xref: ICD10CM:D12.6 {source="Orphanet:401911", source="Orphanet:401911/attributed", source="Orphanet:401911/ntbt"} xref: Orphanet:401911 {source="MONDO:equivalentTo"} xref: UMLS:CN226139 {source="MONDO:equivalentTo"} @@ -354659,9 +369870,11 @@ replaced_by: MONDO:0006210 [Term] id: MONDO:0018428 name: 9q31.1q31.3 microdeletion syndrome +subset: gard_rare {source="GARD:21705"} subset: ordo_malformation_syndrome {source="Orphanet:401923"} synonym: "Del(9)(q31.1q31.3)" EXACT [Orphanet:401923] synonym: "monosomy 9q31.1q31.3" EXACT [Orphanet:401923] +xref: GARD:21705 {source="Orphanet:401923"} xref: ICD10CM:Q93.5 {source="Orphanet:401923", source="Orphanet:401923/attributed", source="Orphanet:401923/ntbt"} xref: Orphanet:401923 {source="MONDO:equivalentTo"} xref: UMLS:CN226140 {source="MONDO:equivalentTo"} @@ -354677,9 +369890,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018429 name: 14q24.1q24.3 microdeletion syndrome +subset: gard_rare {source="GARD:21706"} subset: ordo_malformation_syndrome {source="Orphanet:401935"} synonym: "Del(14)(q24.1q24.3)" EXACT [Orphanet:401935] synonym: "monosomy 14q24.1q24.3" EXACT [Orphanet:401935] +xref: GARD:21706 {source="Orphanet:401935"} xref: ICD10CM:Q93.5 {source="Orphanet:401935", source="Orphanet:401935/attributed", source="Orphanet:401935/ntbt"} xref: Orphanet:401935 {source="MONDO:equivalentTo"} xref: UMLS:CN226142 {source="MONDO:equivalentTo"} @@ -354696,7 +369911,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018430 name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome def: "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." [Orphanet:401959] +subset: gard_rare {source="GARD:21707"} subset: ordo_malformation_syndrome {source="Orphanet:401959"} +xref: GARD:21707 {source="Orphanet:401959"} xref: ICD10CM:Q04.3 {source="Orphanet:401959/attributed", source="Orphanet:401959/ntbt", source="Orphanet:401959"} xref: Orphanet:401959 {source="MONDO:equivalentTo"} xref: UMLS:CN226145 {source="MONDO:equivalentTo"} @@ -354710,8 +369927,10 @@ id: MONDO:0018431 name: cold-induced sweating syndrome - hyperthermia spectrum comment: Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms subset: disease_grouping +subset: gard_rare {source="GARD:21708"} subset: ordo_group_of_disorders {source="Orphanet:401993"} subset: ordo_inheritance_inconsistent +xref: GARD:21708 {source="Orphanet:401993"} xref: ICD10CM:G90.8 {source="Orphanet:401993", source="Orphanet:401993/attributed", source="Orphanet:401993/ntbt"} xref: Orphanet:401993 {source="MONDO:equivalentTo"} xref: UMLS:CN226150 {source="MONDO:equivalentTo"} @@ -354722,10 +369941,12 @@ relationship: excluded_subClassOf MONDO:0015366 {source="Orphanet:401993"} ! obs id: MONDO:0018432 name: lichen myxedematosus subset: disease_grouping +subset: gard_rare {source="GARD:21709"} subset: ordo_group_of_disorders {source="Orphanet:402007"} synonym: "lichen myxoedematosus" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] synonym: "lichenoid myxedema" RELATED [] synonym: "papular mucinosis" RELATED [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] +xref: GARD:21709 {source="Orphanet:402007"} xref: ICD10CM:L98.5 {source="Orphanet:402007", source="Orphanet:402007/ntbt"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:402007 {source="MONDO:equivalentTo"} @@ -354738,8 +369959,10 @@ is_a: MONDO:0021154 {source="Orphanet:402007"} ! dermis disorder id: MONDO:0018433 name: acute myeloid leukemia with t(6;9)(p23;q34) def: "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." [Orphanet:402014] +subset: gard_rare {source="GARD:21710"} subset: ordo_disease {source="Orphanet:402014"} synonym: "AML with t(6;9)(p23;q34)" EXACT [Orphanet:402014] +xref: GARD:21710 {source="Orphanet:402014"} xref: ICD10CM:C92.0 {source="Orphanet:402014/ntbt", source="Orphanet:402014"} xref: Orphanet:402014 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402014"} ! acute myeloid leukemia @@ -354748,8 +369971,10 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0018434 name: acute myeloid leukemia with t(9;11)(p22;q23) +subset: gard_rare {source="GARD:21711"} subset: ordo_disease {source="Orphanet:402017"} synonym: "AML with t(9;11)(p22;q23)" EXACT [Orphanet:402017] +xref: GARD:21711 {source="Orphanet:402017"} xref: ICD10CM:C92.0 {source="Orphanet:402017/ntbt", source="Orphanet:402017"} xref: Orphanet:402017 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402017"} ! acute myeloid leukemia @@ -354759,12 +369984,13 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018435 name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) def: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." [Orphanet:402020] -subset: gard_rare {source="GARD:0012759"} +subset: gard_rare {source="GARD:12759"} subset: ordo_disease {source="Orphanet:402020"} synonym: "acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED OMO:0003005 [] synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [Orphanet:402020] synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020] synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020] +xref: GARD:12759 {source="Orphanet:402020"} xref: ICD10CM:C92.0 {source="Orphanet:402020/ntbt", source="Orphanet:402020"} xref: Orphanet:402020 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402020"} ! acute myeloid leukemia @@ -354775,8 +370001,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12759/acute- id: MONDO:0018436 name: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) def: "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." [Orphanet:402023] +subset: gard_rare {source="GARD:21712"} subset: ordo_disease {source="Orphanet:402023"} synonym: "megakaryoblastic AML with t(1;22)(p13;q13)" EXACT [Orphanet:402023] +xref: GARD:21712 {source="Orphanet:402023"} xref: ICD10CM:C94.2 {source="Orphanet:402023/ntbt", source="Orphanet:402023"} xref: Orphanet:402023 {source="MONDO:equivalentTo"} xref: SCTID:763796007 {source="MONDO:equivalentTo"} @@ -354787,8 +370015,10 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018437 name: acute myeloid leukemia with NPM1 somatic mutations def: "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." [Orphanet:402026] +subset: gard_rare {source="GARD:21713"} subset: ordo_disease {source="Orphanet:402026"} synonym: "AML with NPM1 somatic mutations" EXACT [Orphanet:402026] +xref: GARD:21713 {source="Orphanet:402026"} xref: ICD10CM:C92.0 {source="Orphanet:402026", source="Orphanet:402026/ntbt"} xref: Orphanet:402026 {source="MONDO:equivalentTo"} xref: SCTID:763309005 {source="MONDO:equivalentTo"} @@ -354799,9 +370029,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018438 name: eosinophilic gastrointestinal disease subset: disease_grouping +subset: gard_rare {source="GARD:21714"} subset: ordo_group_of_disorders {source="Orphanet:402029"} synonym: "EGID" EXACT ABBREVIATION [Orphanet:402029] synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476] +xref: GARD:21714 {source="Orphanet:402029"} xref: ICD10CM:K52.8 {source="Orphanet:402029", source="Orphanet:402029/ntbt"} xref: Orphanet:402029 {source="MONDO:equivalentTo"} xref: UMLS:CN226154 {source="MONDO:equivalentTo"} @@ -354812,7 +370044,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019997"} ! rare id: MONDO:0018439 name: eosinophilic colitis def: "Inflammation of the colon that is characterized by eosinic infiltration." [NCIT:C27053] +subset: gard_rare {source="GARD:21715"} subset: ordo_disease {source="Orphanet:402035"} +xref: GARD:21715 {source="Orphanet:402035"} xref: ICD10CM:K52.8 {source="Orphanet:402035/ntbt", source="Orphanet:402035"} xref: ICD10CM:K52.82 {source="MONDO:equivalentTo"} xref: ICD9:558.42 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -354827,11 +370061,13 @@ is_a: MONDO:0018438 {source="Orphanet:402035"} ! eosinophilic gastrointestinal d id: MONDO:0018440 name: autosomal recessive distal renal tubular acidosis def: "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." [Orphanet:402041] +subset: gard_rare {source="GARD:4666"} subset: ordo_clinical_subtype {source="Orphanet:402041"} synonym: "AR dRTA" EXACT [Orphanet:402041] synonym: "autosomal recessive distal renal tubular acidosis (disease)" EXACT [] synonym: "autosomal recessive distal RTA" EXACT [Orphanet:402041] synonym: "distal renal tubular acidosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:4666 {source="Orphanet:402041"} xref: ICD10CM:N25.8 {source="Orphanet:402041", source="Orphanet:402041/attributed", source="Orphanet:402041/ntbt"} xref: Orphanet:402041 {source="MONDO:equivalentTo"} xref: UMLS:C1864498 {source="MONDO:equivalentTo", source="Orphanet:402041"} @@ -354849,7 +370085,7 @@ replaced_by: MONDO:0005789 id: MONDO:0018442 name: acitretin/etretinate embryopathy def: "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." [Orphanet:40366] -subset: gard_rare +subset: gard_rare {source="GARD:18827"} subset: ordo_disease {source="Orphanet:40366"} synonym: "acitretin embryofetopathy" RELATED [GARD:0000468] synonym: "acitretin embryopathy" RELATED [GARD:0000468] @@ -354859,6 +370095,7 @@ synonym: "fetal acitretin/etretinate syndrome" EXACT [Orphanet:40366] synonym: "foetal acitretin syndrome" RELATED OMO:0003005 [] synonym: "foetal acitretin/etretinate syndrome" EXACT OMO:0003005 [] synonym: "retinoid embryopathy" EXACT [Orphanet:40366] +xref: GARD:18827 {source="Orphanet:40366"} xref: ICD10CM:Q86.8 {source="Orphanet:40366", source="Orphanet:40366/ntbt"} xref: MESH:C538169 {source="MONDO:equivalentTo"} xref: Orphanet:40366 {source="MONDO:equivalentTo"} @@ -354871,7 +370108,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/468/acitreti [Term] id: MONDO:0018443 name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome +subset: gard_rare {source="GARD:21717"} subset: ordo_malformation_syndrome {source="Orphanet:404451"} +xref: GARD:21717 {source="Orphanet:404451"} xref: ICD10CM:Q87.8 {source="Orphanet:404451/attributed", source="Orphanet:404451/ntbt", source="Orphanet:404451"} xref: Orphanet:404451 {source="MONDO:equivalentTo"} xref: UMLS:CN226185 {source="MONDO:equivalentTo"} @@ -354884,10 +370123,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018444 name: obsolete female infertility due to fertilization defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' +subset: gard_rare {source="GARD:21718"} subset: ordo_group_of_disorders {source="Orphanet:404469"} synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469] +xref: GARD:21718 {source="Orphanet:404469", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.8 {source="Orphanet:404469", source="Orphanet:404469/attributed", source="Orphanet:404469/ntbt"} xref: Orphanet:404469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -354898,12 +370139,14 @@ consider: MONDO:0021124 [Term] id: MONDO:0018445 name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +subset: gard_rare {source="GARD:17676"} subset: ordo_malformation_syndrome {source="Orphanet:404476"} synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumor" EXACT [MONDO:0032647, OMIM:618272] synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumour" EXACT OMO:0003005 [] synonym: "GLOW" EXACT ABBREVIATION [OMIM:618272] synonym: "glow syndrome" EXACT [OMIM:618272, Orphanet:404476] synonym: "GLOW syndrome, somatic mosaic" EXACT [OMIM:618272, OMIM:genemap2] +xref: GARD:17676 {source="Orphanet:404476"} xref: ICD10CM:Q87.3 {source="Orphanet:404476/attributed", source="Orphanet:404476/ntbt", source="Orphanet:404476"} xref: OMIM:618272 {source="MONDO:equivalentTo"} xref: Orphanet:404476 {source="MONDO:equivalentTo", source="OMIM:618272"} @@ -354918,7 +370161,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018446 name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome subset: disease_grouping +subset: gard_rare {source="GARD:21719"} subset: ordo_group_of_disorders {source="Orphanet:404481"} +xref: GARD:21719 {source="Orphanet:404481"} xref: ICD10CM:G11.1 {source="Orphanet:404481", source="Orphanet:404481/attributed", source="Orphanet:404481/ntbt"} xref: Orphanet:404481 {source="MONDO:equivalentTo"} xref: UMLS:CN226191 {source="MONDO:equivalentTo"} @@ -354932,9 +370177,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018447 name: chondromyxoid fibroma def: "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCIT:C3830] +subset: gard_rare {source="GARD:21720"} subset: ordo_disease {source="Orphanet:404507"} synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830] xref: EFO:0000332 {source="MONDO:equivalentTo"} +xref: GARD:21720 {source="Orphanet:404507"} xref: ICD10CM:D16.9 {source="Orphanet:404507", source="Orphanet:404507/ntbt"} xref: ICDO:9241/0 {source="NCIT:C3830"} xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo"} @@ -354949,7 +370196,9 @@ is_a: MONDO:0024470 {source="NCIT:C3830"} ! benign chondrogenic neoplasm id: MONDO:0018448 name: clear cell papillary renal cell carcinoma def: "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." [Orphanet:404511] +subset: gard_rare {source="GARD:21721"} subset: ordo_histopathological_subtype {source="Orphanet:404511"} +xref: GARD:21721 {source="Orphanet:404511"} xref: ICD10CM:C64 {source="Orphanet:404511/ntbt", source="Orphanet:404511"} xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"} xref: Orphanet:404511 {source="MONDO:equivalentTo"} @@ -354961,7 +370210,9 @@ is_a: MONDO:0007763 {source="Orphanet:404511"} ! nonpapillary renal cell carcino id: MONDO:0018449 name: acquired cystic disease-associated renal cell carcinoma def: "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." [Orphanet:404514] +subset: gard_rare {source="GARD:21722"} subset: ordo_disease {source="Orphanet:404514"} +xref: GARD:21722 {source="Orphanet:404514"} xref: ICD10CM:C64 {source="Orphanet:404514/ntbt", source="Orphanet:404514"} xref: NCIT:C157718 {source="MONDO:equivalentTo"} xref: Orphanet:404514 {source="MONDO:equivalentTo"} @@ -354972,11 +370223,13 @@ is_a: MONDO:0005086 {source="Orphanet:404514", source="https://orcid.org/0000-00 id: MONDO:0018450 name: spinal muscular atrophy with respiratory distress type 2 def: "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." [Orphanet:404521] +subset: gard_rare {source="GARD:21723"} subset: ordo_disease {source="Orphanet:404521"} synonym: "diaphragmatic spinal muscular atrophy type 2" EXACT [Orphanet:404521] synonym: "severe infantile axonal neuropathy with respiratory failure type 2" EXACT [Orphanet:404521] synonym: "SMARD2" EXACT ABBREVIATION [Orphanet:404521] synonym: "X-linked spinal muscular atrophy with respiratory distress" EXACT [Orphanet:404521] +xref: GARD:21723 {source="Orphanet:404521"} xref: ICD10CM:G12.2 {source="Orphanet:404521/attributed", source="Orphanet:404521/ntbt", source="Orphanet:404521"} xref: Orphanet:404521 {source="MONDO:equivalentTo"} xref: UMLS:CN226195 {source="MONDO:equivalentTo"} @@ -354989,9 +370242,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018451 name: obsolete X-linked distal hereditary motor neuropathy def: "OBSOLETE. X-linked form of distal hereditary motor neuropathy." [MONDO:patterns/x_linked] +subset: gard_rare {source="GARD:21724"} synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked dHMN" EXACT [Orphanet:404538] synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538] +xref: GARD:21724 {source="MONDO:obsoleteEquivalent", source="Orphanet:404538"} xref: ICD10CM:G12.2 {source="Orphanet:404538/attributed", source="Orphanet:404538/ntbt", source="Orphanet:404538"} xref: Orphanet:404538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355011,6 +370266,7 @@ replaced_by: MONDO:0013626 [Term] id: MONDO:0018453 name: familial atypical multiple mole melanoma syndrome +subset: gard_rare {source="GARD:9281"} subset: ordo_disease {source="Orphanet:404560"} synonym: "B-K mole syndrome" EXACT [Orphanet:404560] synonym: "familial atypical mole melanoma syndrome" EXACT [NCIT:C27264] @@ -355022,6 +370278,7 @@ synonym: "FAMM syndrome" EXACT [NCIT:C27264] synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560] synonym: "FAMMM syndrome" EXACT [Orphanet:404560] synonym: "melanoma-pancreatic cancer syndrome" BROAD [Orphanet:404560] +xref: GARD:9281 {source="Orphanet:404560"} xref: ICD10CM:D22.9 {source="Orphanet:404560", source="Orphanet:404560/nd", source="Orphanet:404560/attributed"} xref: NCIT:C27264 {source="MONDO:equivalentTo"} xref: Orphanet:404560 {source="MONDO:equivalentTo"} @@ -355039,7 +370296,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018454 name: obsolete dysostosis of genetic origin def: "OBSOLETE. An instance of dysostosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:21725"} synonym: "genetic dysostosis" EXACT [MONDO:patterns/genetic] +xref: GARD:21725 {source="Orphanet:404568", source="MONDO:obsoleteEquivalent"} xref: Orphanet:404568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -355052,7 +370311,9 @@ is_obsolete: true id: MONDO:0018455 name: obsolete dysostosis of genetic origin with limb anomaly as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:21726"} subset: ordo_group_of_disorders {source="Orphanet:404571"} +xref: GARD:21726 {source="MONDO:obsoleteEquivalent", source="Orphanet:404571"} xref: Orphanet:404571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -355063,11 +370324,13 @@ is_obsolete: true id: MONDO:0018456 name: polyarticular juvenile idiopathic arthritis subset: disease_grouping +subset: gard_rare {source="GARD:21729"} subset: ordo_group_of_disorders {source="Orphanet:404580"} synonym: "juvenile polyarthritis" EXACT [Orphanet:404580] synonym: "juvenile polyarticular arthritis" EXACT [Orphanet:404580] synonym: "polyarticular JIA" EXACT [Orphanet:404580] xref: EFO:1002020 {source="MONDO:equivalentTo"} +xref: GARD:21729 {source="Orphanet:404580"} xref: Orphanet:404580 {source="MONDO:equivalentTo"} xref: SCTID:16044751000119106 {source="MONDO:equivalentTo"} xref: UMLS:C0409667 {source="Orphanet:404580", source="MONDO:notFoundInDiseaseSubset"} @@ -355077,8 +370340,10 @@ is_a: MONDO:0011429 {source="Orphanet:404580"} ! juvenile idiopathic arthritis id: MONDO:0018457 name: obsolete rare genetic bone development disorder subset: disease_grouping +subset: gard_rare {source="GARD:21730"} subset: ordo_group_of_disorders {source="Orphanet:404584"} synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584] +xref: GARD:21730 {source="MONDO:obsoleteEquivalent", source="Orphanet:404584"} xref: Orphanet:404584 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -355090,6 +370355,7 @@ is_obsolete: true id: MONDO:0018458 name: familial hypocalciuric hypercalcemia def: "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." [Orphanet:405] +subset: gard_rare {source="GARD:10828"} subset: ordo_disease {source="Orphanet:405"} synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, Orphanet:405] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [DOID:0060699, Orphanet:405] @@ -355098,6 +370364,7 @@ synonym: "FBHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "FHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980] xref: DOID:0060699 {source="MONDO:equivalentTo"} +xref: GARD:10828 {source="Orphanet:405"} xref: ICD10CM:E83.5 {source="Orphanet:405/attributed", source="Orphanet:405/ntbt", source="Orphanet:405", source="DOID:0060699"} xref: NCIT:C123262 {source="MONDO:equivalentTo"} xref: OMIMPS:145980 {source="DOID:0060699", source="MONDO:equivalentTo"} @@ -355117,11 +370384,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145980"} ! inheri id: MONDO:0018459 name: isolated glycerol kinase deficiency def: "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." [Orphanet:408] +subset: gard_rare {source="GARD:2807"} subset: ordo_disease {source="Orphanet:408"} synonym: "hyperglycerolemia" EXACT [Orphanet:408] synonym: "isolated inborn glycerol kinase deficiency" EXACT [] synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] +xref: GARD:2807 {source="Orphanet:408"} xref: ICD10CM:E74.8 {source="Orphanet:408", source="Orphanet:408/attributed", source="Orphanet:408/ntbt"} xref: MESH:C538138 {source="Orphanet:408", source="Orphanet:408/e"} xref: Orphanet:408 {source="MONDO:equivalentTo"} @@ -355136,13 +370405,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo-build/i id: MONDO:0018460 name: Eales disease def: "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." [Orphanet:40923] -subset: gard_rare {source="GARD:0006309"} +subset: gard_rare {source="GARD:6309"} subset: ordo_disease {source="Orphanet:40923"} synonym: "idiopathic obliterative vasculopathy" RELATED [GARD:0006309] synonym: "idiopathic recurrent vitreal haemorrhage" RELATED OMO:0003005 [] synonym: "idiopathic recurrent vitreal hemorrhage" RELATED [GARD:0006309] synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923] synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923] +xref: GARD:6309 {source="Orphanet:40923"} xref: ICD10CM:H35.0 {source="Orphanet:40923/ntbt", source="Orphanet:40923"} xref: MedDRA:10057429 {source="Orphanet:40923/e", source="Orphanet:40923"} xref: MESH:C538011 {source="Orphanet:40923/e", source="MONDO:equivalentTo", source="Orphanet:40923"} @@ -355157,7 +370427,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6309/eales-d [Term] id: MONDO:0018461 name: Angelman syndrome due to a point mutation +subset: gard_rare {source="GARD:21732"} subset: ordo_etiological_subtype {source="Orphanet:411511"} +xref: GARD:21732 {source="Orphanet:411511"} xref: ICD10CM:Q93.5 {source="Orphanet:411511", source="Orphanet:411511/attributed", source="Orphanet:411511/ntbt"} xref: Orphanet:411511 {source="MONDO:equivalentTo"} xref: UMLS:CN237441 {source="MONDO:equivalentTo"} @@ -355167,7 +370439,9 @@ relationship: has_characteristic SO:1000008 ! point_mutation [Term] id: MONDO:0018462 name: Angelman syndrome due to imprinting defect in 15q11-q13 +subset: gard_rare {source="GARD:21733"} subset: ordo_etiological_subtype {source="Orphanet:411515"} +xref: GARD:21733 {source="Orphanet:411515"} xref: ICD10CM:Q93.5 {source="Orphanet:411515", source="Orphanet:411515/attributed", source="Orphanet:411515/ntbt"} xref: Orphanet:411515 {source="MONDO:equivalentTo"} xref: UMLS:CN237442 {source="MONDO:equivalentTo"} @@ -355177,9 +370451,11 @@ is_a: MONDO:0007113 {source="Orphanet:411515"} ! Angelman syndrome id: MONDO:0018463 name: mild phosphoribosylpyrophosphate synthetase superactivity def: "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." [Orphanet:411536] +subset: gard_rare {source="GARD:17681"} subset: ordo_clinical_subtype {source="Orphanet:411536"} synonym: "mild PRPP synthetase superactivity" EXACT [Orphanet:411536] synonym: "mild PRPS1 superactivity" EXACT [Orphanet:411536] +xref: GARD:17681 {source="Orphanet:411536"} xref: ICD10CM:E79.8 {source="Orphanet:411536", source="Orphanet:411536/attributed", source="Orphanet:411536/ntbt"} xref: Orphanet:411536 {source="MONDO:equivalentTo"} xref: UMLS:CN237443 {source="MONDO:equivalentTo"} @@ -355190,9 +370466,11 @@ property_value: confidence "1.0" xsd:double id: MONDO:0018464 name: severe phosphoribosylpyrophosphate synthetase superactivity def: "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." [Orphanet:411543] +subset: gard_rare {source="GARD:17682"} subset: ordo_clinical_subtype {source="Orphanet:411543"} synonym: "severe PRPP synthetase superactivity" EXACT [Orphanet:411543] synonym: "severe PRPS1 superactivity" EXACT [Orphanet:411543] +xref: GARD:17682 {source="Orphanet:411543"} xref: ICD10CM:E79.8 {source="Orphanet:411543/attributed", source="Orphanet:411543/ntbt", source="Orphanet:411543"} xref: Orphanet:411543 {source="MONDO:equivalentTo"} xref: UMLS:CN237444 {source="MONDO:equivalentTo"} @@ -355203,11 +370481,12 @@ property_value: confidence "1.0" xsd:double id: MONDO:0018465 name: insulin autoimmune syndrome def: "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." [https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome] -subset: gard_rare {source="GARD:0010808"} +subset: gard_rare {source="GARD:10808"} subset: ordo_disease {source="Orphanet:411593"} synonym: "Hirata disease" EXACT [Orphanet:411593] synonym: "insulin autoimmune hypoglycemia" RELATED [GARD:0010808] xref: DOID:0040100 {source="MONDO:equivalentTo"} +xref: GARD:10808 {source="Orphanet:411593"} xref: ICD10CM:E16.1 {source="Orphanet:411593/ntbt", source="Orphanet:411593"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:411593 {source="MONDO:equivalentTo"} @@ -355230,6 +370509,7 @@ replaced_by: MONDO:0008199 id: MONDO:0018467 name: nephropathic infantile cystinosis def: "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411629] +subset: gard_rare {source="GARD:9755"} subset: ordo_clinical_subtype {source="Orphanet:411629"} synonym: "CTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219800] synonym: "cystinosin, defect of" RELATED [OMIM:219800] @@ -355237,6 +370517,7 @@ synonym: "cystinosis, atypical nephropathic" RELATED [OMIM:219800] synonym: "cystinosis, infantile nephropathic" EXACT [OMIM:219800] synonym: "lysosomal cystine transport protein, defect of" RELATED [OMIM:219800] synonym: "nephropathic infantile cystinosis" EXACT CLINGEN_PREFERRED [] +xref: GARD:9755 {source="Orphanet:411629"} xref: ICD10EXP:E72.0+ {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"} xref: ICD10EXP:N16.3* {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"} xref: Orphanet:213 {source="OMIM:219800"} @@ -355257,10 +370538,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018468 name: proton-pump inhibitor-responsive esophageal eosinophilia def: "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." [Orphanet:411696] +subset: gard_rare {source="GARD:21735"} subset: ordo_disease {source="Orphanet:411696"} synonym: "PPI-REE" EXACT [Orphanet:411696] synonym: "PPI-responsive esophageal eosinophilia" EXACT [Orphanet:411696] synonym: "PPIRee" EXACT [Orphanet:411696] +xref: GARD:21735 {source="Orphanet:411696"} xref: ICD10CM:K20 {source="Orphanet:411696", source="Orphanet:411696/ntbt"} xref: Orphanet:411696 {source="MONDO:equivalentTo"} is_a: MONDO:0018438 {source="Orphanet:411696"} ! eosinophilic gastrointestinal disease @@ -355268,9 +370551,11 @@ is_a: MONDO:0018438 {source="Orphanet:411696"} ! eosinophilic gastrointestinal d [Term] id: MONDO:0018469 name: pulmonary non-tuberculous mycobacterial infection +subset: gard_rare {source="GARD:12829"} subset: ordo_disease {source="Orphanet:411703"} synonym: "non-tuberculous mycobacterial lung disease" EXACT [Orphanet:411703] synonym: "nontuberculous mycobacterial lung disease" RELATED [GARD:0012829] +xref: GARD:12829 {source="Orphanet:411703"} xref: ICD10CM:A31.0 {source="Orphanet:411703", source="Orphanet:411703/e"} xref: Orphanet:411703 {source="MONDO:equivalentTo"} xref: UMLS:CN237452 {source="MONDO:equivalentTo"} @@ -355284,6 +370569,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare id: MONDO:0018470 name: renal agenesis def: "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." [Orphanet:411709] +subset: gard_rare {source="GARD:9228"} subset: ordo_morphological_anomaly {source="Orphanet:411709"} synonym: "absent/small kidney" EXACT [HP:0008678] synonym: "absent/underdeveloped kidney" EXACT [HP:0008678] @@ -355296,6 +370582,7 @@ synonym: "renal agenesis/hypoplasia" EXACT [HP:0008678] synonym: "renal aplasia" EXACT [DOID:14766] synonym: "renal hypodysplasia/aplasia" RELATED [OMIMPS:191830] xref: DOID:14766 {source="MONDO:equivalentTo"} +xref: GARD:9228 {source="Orphanet:411709"} xref: HP:0000104 {source="MONDO:otherHierarchy"} xref: HP:0008678 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q60.0 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"} @@ -355321,11 +370608,13 @@ property_value: IAO:0000589 "renal agenesis (disease)" xsd:string id: MONDO:0018471 name: generalized eruptive keratoacanthoma def: "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." [Orphanet:411777] +subset: gard_rare {source="GARD:21736"} subset: ordo_disease {source="Orphanet:411777"} synonym: "GEKA" EXACT ABBREVIATION [Orphanet:411777] synonym: "generalised eruptive keratoacanthomas of Grzybowski" EXACT OMO:0003005 [] synonym: "generalized eruptive keratoacanthomas of Grzybowski" EXACT [Orphanet:411777] synonym: "Grzybowski syndrome" EXACT [Orphanet:411777] +xref: GARD:21736 {source="Orphanet:411777"} xref: ICD10CM:L85.8 {source="Orphanet:411777/ntbt", source="Orphanet:411777"} xref: Orphanet:411777 {source="MONDO:equivalentTo"} xref: SCTID:254664008 {source="MONDO:equivalentTo"} @@ -355338,8 +370627,10 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:411777"} ! obs id: MONDO:0018472 name: familial isolated trichomegaly def: "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." [Orphanet:411788] +subset: gard_rare {source="GARD:13167"} subset: ordo_disease {source="Orphanet:411788"} xref: DOID:0111566 {source="MONDO:equivalentTo"} +xref: GARD:13167 {source="Orphanet:411788"} xref: Orphanet:411788 {source="MONDO:equivalentTo"} xref: SCTID:764523004 {source="MONDO:equivalentTo"} is_a: MONDO:0008593 {source="https://orcid.org/0000-0001-5208-3432"} ! trichomegaly @@ -355349,6 +370640,7 @@ property_value: confidence "5.6923076923076925" xsd:double id: MONDO:0018473 name: hyperlipoproteinemia type 3 def: "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." [Orphanet:412] +subset: gard_rare {source="GARD:6703"} subset: ordo_disease {source="Orphanet:412"} synonym: "apolipoprotein E, deficiency or defect of" RELATED [OMIM:617347] synonym: "Broad beta disease" RELATED [GARD:0006703] @@ -355376,6 +370668,7 @@ synonym: "remnant disease" EXACT [Orphanet:412] synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710] synonym: "remnant removal disease" RELATED [GARD:0006703] xref: DOID:3145 {source="MONDO:equivalentTo"} +xref: GARD:6703 {source="Orphanet:412"} xref: ICD10CM:E78.2 {source="Orphanet:412", source="Orphanet:412/ntbt", source="Orphanet:412/inclusion"} xref: MedDRA:10060751 {source="Orphanet:412", source="Orphanet:412/e"} xref: MESH:D006952 {source="Orphanet:412", source="DOID:3145", source="Orphanet:412/e"} @@ -355394,9 +370687,11 @@ is_a: MONDO:0001336 {source="DOID:3145", source="MONDO:Redundant", source="Orpha id: MONDO:0018474 name: 13q12.3 microdeletion syndrome def: "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." [Orphanet:412035] +subset: gard_rare {source="GARD:21737"} subset: ordo_malformation_syndrome {source="Orphanet:412035"} synonym: "Del(13)(q12.3)" EXACT [Orphanet:412035] synonym: "monosomy 13q12.3" EXACT [Orphanet:412035] +xref: GARD:21737 {source="Orphanet:412035"} xref: ICD10CM:Q93.5 {source="Orphanet:412035/attributed", source="Orphanet:412035/ntbt", source="Orphanet:412035"} xref: Orphanet:412035 {source="MONDO:equivalentTo"} xref: UMLS:CN237459 {source="MONDO:equivalentTo"} @@ -355412,7 +370707,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018475 name: PRKAR1B-related neurodegenerative dementia with intermediate filaments +subset: gard_rare {source="GARD:21738"} subset: ordo_disease {source="Orphanet:412066"} +xref: GARD:21738 {source="Orphanet:412066"} xref: ICD10CM:G31.8 {source="Orphanet:412066/attributed", source="Orphanet:412066/ntbt", source="Orphanet:412066"} xref: Orphanet:412066 {source="MONDO:equivalentTo"} xref: UMLS:CN237461 {source="MONDO:equivalentTo"} @@ -355422,7 +370719,9 @@ is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:412066", source= [Term] id: MONDO:0018476 name: dystonia-aphonia syndrome +subset: gard_rare {source="GARD:21739"} subset: ordo_disease {source="Orphanet:412217"} +xref: GARD:21739 {source="Orphanet:412217"} xref: ICD10CM:G24.8 {source="Orphanet:412217/attributed", source="Orphanet:412217/ntbt", source="Orphanet:412217"} xref: Orphanet:412217 {source="MONDO:equivalentTo"} xref: UMLS:CN237465 {source="MONDO:equivalentTo"} @@ -355434,6 +370733,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018477 name: bilirubin encephalopathy +subset: gard_rare {source="GARD:6830"} subset: ordo_clinical_syndrome {source="Orphanet:415286"} synonym: "bilirubin encephalopathy" EXACT [DOID:2382] synonym: "hyperbilirubinemic encephalopathy" RELATED [GARD:0006830] @@ -355441,6 +370741,7 @@ synonym: "kernicterus" EXACT [Orphanet:415286] synonym: "kernicterus spectrum disorder" RELATED [Orphanet:415286] xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"} xref: EFO:1001002 {source="MONDO:equivalentTo"} +xref: GARD:6830 {source="Orphanet:415286"} xref: ICD10CM:P57 {source="EFO:1001002", source="DOID:2382"} xref: ICD10CM:P57.9 {source="Orphanet:415286/ntbt", source="Orphanet:415286", source="DOID:2382"} xref: MedDRA:10023376 {source="EFO:1001002"} @@ -355469,6 +370770,7 @@ id: MONDO:0018479 name: congenital adrenal hyperplasia def: "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." [Orphanet:418] subset: disease_grouping +subset: gard_rare {source="GARD:1467"} subset: ordo_group_of_disorders {source="Orphanet:418"} synonym: "adrenal hyperplasia" BROAD [NCIT:C34360] synonym: "adrenal hyperplasia, congenital" EXACT [NCIT:C34360] @@ -355479,6 +370781,7 @@ synonym: "congenital adrenal gland hyperplasia" EXACT [NCIT:C34360] synonym: "congenital lipoid adrenal hyperplasia" RELATED [DOID:0050811] synonym: "lipoid CAH" RELATED [DOID:0050811] xref: DOID:0050811 {source="MONDO:equivalentTo"} +xref: GARD:1467 {source="Orphanet:418"} xref: ICD10CM:E25 {source="DOID:0050811"} xref: ICD10CM:E25.0 {source="Orphanet:418", source="Orphanet:418/specific", source="Orphanet:418/e"} xref: ICD10CM:E25.9 {source="DOID:0050811"} @@ -355503,8 +370806,10 @@ is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418"} ! adrenogenit [Term] id: MONDO:0018480 name: carcinoma of esophagus, salivary gland type +subset: gard_rare {source="GARD:21741"} subset: ordo_disease {source="Orphanet:418945"} synonym: "esophageal carcinoma, salivary gland type" EXACT [Orphanet:418945] +xref: GARD:21741 {source="Orphanet:418945"} xref: ICD10CM:C15.3 {source="Orphanet:418945", source="Orphanet:418945/nd"} xref: ICD10CM:C15.4 {source="Orphanet:418945", source="Orphanet:418945/nd"} xref: ICD10CM:C15.5 {source="Orphanet:418945", source="Orphanet:418945/nd"} @@ -355517,12 +370822,14 @@ is_a: MONDO:0019086 {source="Orphanet:418945"} ! carcinoma of esophagus id: MONDO:0018481 name: undifferentiated carcinoma of esophagus def: "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." [NCIT:P378] +subset: gard_rare {source="GARD:21742"} subset: ordo_disease {source="Orphanet:418951"} synonym: "esophageal undifferentiated carcinoma" EXACT [NCIT:C27422] synonym: "esophagus undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "oesophagus undifferentiated carcinoma" EXACT OMO:0003005 [] synonym: "undifferentiated esophageal cancer" EXACT [NCIT:C27422] synonym: "undifferentiated esophageal carcinoma" EXACT [Orphanet:418951] +xref: GARD:21742 {source="Orphanet:418951"} xref: ICD10CM:C15.3 {source="Orphanet:418951/nd", source="Orphanet:418951"} xref: ICD10CM:C15.4 {source="Orphanet:418951/nd", source="Orphanet:418951"} xref: ICD10CM:C15.5 {source="Orphanet:418951/nd", source="Orphanet:418951"} @@ -355548,9 +370855,11 @@ id: MONDO:0018483 name: secondary pulmonary alveolar proteinosis def: "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." [PMID:19465834] comment: Editor note: TODO DP for secondary diseases +subset: gard_rare {source="GARD:21744"} subset: ordo_disease {source="Orphanet:420259"} synonym: "secondary PAP" EXACT [Orphanet:420259] synonym: "SPAP" EXACT ABBREVIATION [PMID:19465834] +xref: GARD:21744 {source="Orphanet:420259"} xref: ICD10CM:J84.0 {source="Orphanet:420259", source="Orphanet:420259/ntbt"} xref: Orphanet:420259 {source="MONDO:equivalentTo"} xref: SCTID:707510005 {source="MONDO:equivalentTo"} @@ -355561,6 +370870,7 @@ is_a: MONDO:0001437 {source="MONDO:cjm"} ! pulmonary alveolar proteinosis id: MONDO:0018484 name: semicircular canal dehiscence syndrome def: "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." [Orphanet:420402] +subset: gard_rare {source="GARD:21745"} subset: ordo_clinical_syndrome {source="Orphanet:420402"} synonym: "canal dehiscence syndrome" EXACT [DOID:0080193] synonym: "Minor's syndrome" EXACT [DOID:0080193] @@ -355572,6 +370882,7 @@ synonym: "superior semicircular canal dehiscence" RELATED [DOID:0080193] synonym: "superior semicircular canal dehiscence syndrome" EXACT [DOID:0080193] synonym: "third mobile window syndrome" EXACT [DOID:0080193] xref: DOID:0080193 {source="MONDO:equivalentTo"} +xref: GARD:21745 {source="Orphanet:420402"} xref: ICD10CM:H83.8 {source="Orphanet:420402", source="Orphanet:420402/ntbt", source="DOID:0080193"} xref: Orphanet:420402 {source="MONDO:equivalentTo"} xref: SCTID:717799003 {source="MONDO:equivalentTo"} @@ -355582,6 +370893,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare id: MONDO:0018485 name: glycogen storage disease due to acid maltase deficiency, late-onset def: "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." [Orphanet:420429] +subset: gard_rare {source="GARD:21746"} subset: ordo_clinical_subtype {source="Orphanet:420429"} synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [Orphanet:420429] synonym: "Alpha-1,4-glucosidase acid deficiency, late-onset" EXACT [Orphanet:420429] @@ -355601,6 +370913,7 @@ synonym: "GSD type II, late onset" EXACT [Orphanet:420429] synonym: "GSD type II, late-onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429] +xref: GARD:21746 {source="Orphanet:420429"} xref: ICD10CM:E74.0 {source="Orphanet:420429", source="Orphanet:420429/attributed", source="Orphanet:420429/ntbt"} xref: Orphanet:420429 {source="MONDO:equivalentTo"} xref: SCTID:722343009 {source="MONDO:equivalentTo"} @@ -355612,9 +370925,10 @@ is_a: MONDO:0009290 {source="Orphanet:420429"} ! glycogen storage disease II id: MONDO:0018486 name: visual snow syndrome def: "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." [https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome] -subset: gard_rare {source="GARD:0012062"} +subset: gard_rare {source="GARD:12062"} subset: ordo_disease {source="Orphanet:420556"} synonym: "visual snow" RELATED [GARD:0012062] +xref: GARD:12062 {source="Orphanet:420556"} xref: ICD10CM:H53.8 {source="Orphanet:420556", source="Orphanet:420556/ntbt"} xref: Orphanet:420556 {source="MONDO:equivalentTo"} xref: UMLS:CN237477 {source="MONDO:equivalentTo"} @@ -355625,7 +370939,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12062/visual [Term] id: MONDO:0018487 name: autosomal recessive severe congenital neutropenia due to CXCR2 deficiency +subset: gard_rare {source="GARD:21747"} subset: ordo_disease {source="Orphanet:420699"} +xref: GARD:21747 {source="Orphanet:420699"} xref: ICD10CM:D70 {source="Orphanet:420699", source="Orphanet:420699/attributed", source="Orphanet:420699/ntbt"} xref: Orphanet:420699 {source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="Orphanet:420699", source="Orphanet:420699/inferred"} ! severe congenital neutropenia @@ -355638,7 +370954,9 @@ relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0018488 name: obsolete rare genetic odontal or periodontal disorder subset: disease_grouping +subset: gard_rare {source="GARD:21748"} subset: ordo_group_of_disorders {source="Orphanet:420755"} +xref: GARD:21748 {source="MONDO:obsoleteEquivalent", source="Orphanet:420755"} xref: Orphanet:420755 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237489 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -355650,9 +370968,11 @@ is_obsolete: true id: MONDO:0018489 name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea def: "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." [Orphanet:420789] +subset: gard_rare {source="GARD:21749"} subset: ordo_disease {source="Orphanet:420789"} synonym: "anti-IgLON5 disease" EXACT [Orphanet:420789] synonym: "anti-IgLON5 syndrome" EXACT [Orphanet:420789] +xref: GARD:21749 {source="Orphanet:420789"} xref: ICD10CM:G04.8 {source="Orphanet:420789", source="Orphanet:420789/ntbt"} xref: Orphanet:420789 {source="MONDO:equivalentTo"} xref: SCTID:765751002 {source="MONDO:equivalentTo"} @@ -355668,8 +370988,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare id: MONDO:0018490 name: cono-spondylar dysplasia def: "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." [Orphanet:420794] +subset: gard_rare {source="GARD:21750"} subset: ordo_malformation_syndrome {source="Orphanet:420794"} synonym: "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome" EXACT [Orphanet:420794] +xref: GARD:21750 {source="Orphanet:420794"} xref: ICD10CM:Q77.7 {source="Orphanet:420794/attributed", source="Orphanet:420794/ntbt", source="Orphanet:420794"} xref: Orphanet:420794 {source="MONDO:equivalentTo"} xref: SCTID:766874001 {source="MONDO:equivalentTo"} @@ -355695,6 +371017,7 @@ is_a: MONDO:0018162 {source="Orphanet:422519"} ! neurometabolic disorder due to id: MONDO:0018492 name: hereditary clear cell renal cell carcinoma def: "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." [NCIT:P378] +subset: gard_rare {source="GARD:9571"} subset: ordo_disease {source="Orphanet:422526"} synonym: "hereditary clear cell renal carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary clear cell renal cell adenocarcinoma" EXACT [Orphanet:422526] @@ -355703,6 +371026,7 @@ synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192] xref: DOID:7192 {source="MONDO:equivalentTo"} +xref: GARD:9571 {source="Orphanet:422526"} xref: ICD10CM:C64 {source="Orphanet:422526", source="Orphanet:422526/attributed", source="Orphanet:422526/ntbt"} xref: NCIT:C36260 {source="MONDO:equivalentTo", source="DOID:7192", source="MONDO:exact-label-match"} xref: Orphanet:422526 {source="MONDO:equivalentTo"} @@ -355720,6 +371044,7 @@ id: MONDO:0018493 name: malignant hyperthermia of anesthesia def: "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." [https://orcid.org/0000-0001-5208-3432, Orphanet:423] subset: clingen +subset: gard_rare {source="GARD:6964"} subset: ordo_disease {source="Orphanet:423"} synonym: "anaesthesia related hyperthermia" EXACT OMO:0003005 [] synonym: "anesthesia related hyperthermia" EXACT [DOID:8545] @@ -355732,6 +371057,7 @@ synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous] synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_PREFERRED [] synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869] xref: DOID:8545 {source="MONDO:equivalentTo"} +xref: GARD:6964 {source="Orphanet:423"} xref: HP:0002047 {source="MONDO:otherHierarchy"} xref: ICD10CM:T88.3 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/e", source="Orphanet:423/specific"} xref: ICD9:995.86 {source="DOID:8545"} @@ -355758,7 +371084,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145600"} ! inheri id: MONDO:0018494 name: microcephaly-short stature-intellectual disability-facial dysmorphism syndrome def: "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." [Orphanet:423306] +subset: gard_rare {source="GARD:21751"} subset: ordo_malformation_syndrome {source="Orphanet:423306"} +xref: GARD:21751 {source="Orphanet:423306"} xref: ICD10CM:Q87.1 {source="Orphanet:423306", source="Orphanet:423306/attributed", source="Orphanet:423306/ntbt"} xref: Orphanet:423306 {source="MONDO:equivalentTo"} xref: UMLS:CN237496 {source="MONDO:equivalentTo"} @@ -355768,7 +371096,9 @@ is_a: MONDO:0015159 {source="Orphanet:423306"} ! multiple congenital anomalies/d id: MONDO:0018495 name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome def: "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." [Orphanet:423479] +subset: gard_rare {source="GARD:21752"} subset: ordo_disease {source="Orphanet:423479"} +xref: GARD:21752 {source="Orphanet:423479"} xref: ICD10CM:E79.8 {source="Orphanet:423479", source="Orphanet:423479/attributed", source="Orphanet:423479/ntbt"} xref: Orphanet:423479 {source="MONDO:equivalentTo"} xref: UMLS:CN237501 {source="MONDO:equivalentTo"} @@ -355778,6 +371108,8 @@ is_a: MONDO:0019236 {source="Orphanet:423479"} ! inborn disorder of purine metab [Term] id: MONDO:0018496 name: obsolete ARX-related encephalopathy-brain malformation spectrum +subset: gard_rare {source="GARD:21753"} +xref: GARD:21753 {source="Orphanet:423655", source="MONDO:obsoleteEquivalent"} xref: Orphanet:423655 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:423655"} ! obsolete syndromic urogenital tract malformation relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:423655"} ! obsolete ARX-related epileptic encephalopathy @@ -355793,8 +371125,10 @@ id: MONDO:0018497 name: obsolete rare autonomic nervous system disorder def: "OBSOLETE. Rare autonomic nervous system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:21754"} subset: ordo_group_of_disorders {source="Orphanet:423662"} synonym: "rare autonomic nervous system disease" EXACT [MONDO:patterns/rare] +xref: GARD:21754 {source="MONDO:obsoleteEquivalent", source="Orphanet:423662"} xref: Orphanet:423662 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1145628 {source="Orphanet:423662"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -355804,8 +371138,10 @@ replaced_by: MONDO:0001292 [Term] id: MONDO:0018498 name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect +subset: gard_rare {source="GARD:21755"} subset: ordo_clinical_subtype {source="Orphanet:423693"} synonym: "DORV with subaortic or doubly committed VSD" EXACT [Orphanet:423693] +xref: GARD:21755 {source="Orphanet:423693"} xref: ICD10CM:Q20.1 {source="Orphanet:423693/attributed", source="Orphanet:423693/ntbt", source="Orphanet:423693"} xref: Orphanet:423693 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:423693"} ! double outlet right ventricle @@ -355813,8 +371149,10 @@ is_a: MONDO:0018089 {source="Orphanet:423693"} ! double outlet right ventricle [Term] id: MONDO:0018499 name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy +subset: gard_rare {source="GARD:21756"} subset: ordo_clinical_subtype {source="Orphanet:423712"} synonym: "DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy" EXACT [Orphanet:423712] +xref: GARD:21756 {source="Orphanet:423712"} xref: ICD10CM:Q24.8 {source="Orphanet:423712/attributed", source="Orphanet:423712/ntbt", source="Orphanet:423712"} xref: Orphanet:423712 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:423712"} ! double outlet right ventricle @@ -355823,12 +371161,13 @@ is_a: MONDO:0018089 {source="Orphanet:423712"} ! double outlet right ventricle id: MONDO:0018500 name: cutaneous larva migrans def: "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." [Orphanet:423717] -subset: gard_rare {source="GARD:0001629"} +subset: gard_rare {source="GARD:1629"} subset: ordo_disease {source="Orphanet:423717"} synonym: "CLM" RELATED ABBREVIATION [GARD:0001629] synonym: "creeping eruption" RELATED [GARD:0001629] synonym: "dew itch" RELATED [GARD:0001629] synonym: "ground itch" RELATED [GARD:0001629] +xref: GARD:1629 {source="Orphanet:423717"} xref: ICD10CM:B76.9 {source="Orphanet:423717/ntbt", source="Orphanet:423717"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007815 {source="MONDO:equivalentTo"} @@ -355844,9 +371183,11 @@ id: MONDO:0018501 name: obsolete rare carcinoma of stomach def: "OBSOLETE. Rare stomach carcinoma." [] subset: disease_grouping +subset: gard_rare {source="GARD:21757"} subset: ordo_group_of_disorders {source="Orphanet:423771"} synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare, Orphanet:423771] synonym: "rare stomach carcinoma" EXACT [] +xref: GARD:21757 {source="MONDO:obsoleteEquivalent", source="Orphanet:423771"} xref: Orphanet:423771 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0699791 {source="Orphanet:423771"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -355858,9 +371199,11 @@ id: MONDO:0018502 name: hereditary gastric cancer def: "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." [Orphanet:423776] subset: disease_grouping +subset: gard_rare {source="GARD:21758"} subset: ordo_group_of_disorders {source="Orphanet:423776"} synonym: "hereditary cancer of stomach" EXACT [Orphanet:423776] synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary] +xref: GARD:21758 {source="Orphanet:423776"} xref: Orphanet:423776 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0004950 {source="Orphanet:423776"} ! gastric carcinoma @@ -355891,6 +371234,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare id: MONDO:0018504 name: undifferentiated carcinoma of stomach def: "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." [NCIT:P378] +subset: gard_rare {source="GARD:21759"} subset: ordo_disease {source="Orphanet:423786"} synonym: "anaplastic carcinoma of stomach" EXACT [NCIT:C5476] synonym: "anaplastic carcinoma of the stomach" EXACT [NCIT:C5476] @@ -355902,6 +371246,7 @@ synonym: "undifferentiated carcinoma of the stomach" EXACT [NCIT:C5476] synonym: "undifferentiated gastric (stomach) cancer" EXACT [NCIT:C5476] synonym: "undifferentiated gastric carcinoma" EXACT [NCIT:C5476, Orphanet:423786] synonym: "undifferentiated stomach adenocarcinoma" RELATED [ONCOTREE:USTAD] +xref: GARD:21759 {source="Orphanet:423786"} xref: ICD10CM:C16.0 {source="Orphanet:423786/nd", source="Orphanet:423786"} xref: ICD10CM:C16.1 {source="Orphanet:423786/nd", source="Orphanet:423786"} xref: ICD10CM:C16.2 {source="Orphanet:423786/nd", source="Orphanet:423786"} @@ -355927,9 +371272,11 @@ id: MONDO:0018505 name: obsolete rare tumor of small intestine def: "OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21760"} subset: ordo_group_of_disorders {source="Orphanet:423793"} synonym: "rare small intestine neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare tumor of small bowel" EXACT [Orphanet:423793] +xref: GARD:21760 {source="MONDO:obsoleteEquivalent", source="Orphanet:423793"} xref: Orphanet:423793 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237510 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -355940,9 +371287,11 @@ replaced_by: MONDO:0004251 id: MONDO:0018506 name: mesenchymal tumor of small intestine subset: disease_grouping +subset: gard_rare {source="GARD:21761"} subset: ordo_group_of_disorders {source="Orphanet:423798"} synonym: "mesenchymal tumor of small bowel" EXACT [Orphanet:423798] synonym: "mesenchymal tumour of small bowel" EXACT OMO:0003005 [] +xref: GARD:21761 {source="Orphanet:423798"} xref: Orphanet:423798 {source="MONDO:equivalentTo"} xref: UMLS:CN237511 {source="MONDO:equivalentTo"} is_a: MONDO:0004251 {source="Orphanet:423798"} ! small intestine neoplasm @@ -355952,7 +371301,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0018505"} ! rare id: MONDO:0018507 name: microcephaly-complex motor and sensory axonal neuropathy syndrome def: "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." [Orphanet:423894] +subset: gard_rare {source="GARD:21762"} subset: ordo_disease {source="Orphanet:423894"} +xref: GARD:21762 {source="Orphanet:423894"} xref: ICD10CM:G60.0 {source="Orphanet:423894", source="Orphanet:423894/attributed", source="Orphanet:423894/ntbt"} xref: Orphanet:423894 {source="MONDO:equivalentTo"} xref: UMLS:CN237512 {source="MONDO:equivalentTo"} @@ -355967,9 +371318,11 @@ id: MONDO:0018508 name: obsolete rare carcinoma of small intestine def: "OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21763"} subset: ordo_group_of_disorders {source="Orphanet:423957"} synonym: "rare carcinoma of small bowel" EXACT [Orphanet:423957] synonym: "rare small intestine carcinoma" EXACT [MONDO:patterns/rare] +xref: GARD:21763 {source="MONDO:obsoleteEquivalent", source="Orphanet:423957"} xref: Orphanet:423957 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0238196 {source="Orphanet:423957"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -355980,11 +371333,13 @@ replaced_by: MONDO:0005522 id: MONDO:0018509 name: squamous cell carcinoma of the small intestine def: "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." [NCIT:C43534] +subset: gard_rare {source="GARD:21764"} subset: ordo_disease {source="Orphanet:423968"} synonym: "small intestinal squamous cell cancer" EXACT [NCIT:C43534] synonym: "small intestinal squamous cell carcinoma" EXACT [NCIT:C43534] synonym: "small intestine squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of the small bowel" EXACT [Orphanet:423968] +xref: GARD:21764 {source="Orphanet:423968"} xref: ICD10CM:C17.0 {source="Orphanet:423968", source="Orphanet:423968/nd"} xref: ICD10CM:C17.1 {source="Orphanet:423968", source="Orphanet:423968/nd"} xref: ICD10CM:C17.2 {source="Orphanet:423968", source="Orphanet:423968/nd"} @@ -356005,6 +371360,7 @@ id: MONDO:0018510 name: small intestine neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5803] subset: disease_grouping +subset: gard_rare {source="GARD:21765"} subset: ordo_group_of_disorders {source="Orphanet:423975"} synonym: "NET of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] @@ -356020,6 +371376,7 @@ synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4434 {source="MONDO:equivalentTo"} +xref: GARD:21765 {source="Orphanet:423975"} xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"} xref: Orphanet:423975 {source="MONDO:equivalentTo"} xref: UMLS:C1336005 {source="DOID:4434", source="MONDO:equivalentTo", source="NCIT:C5803"} @@ -356035,10 +371392,12 @@ id: MONDO:0018511 name: epithelial tumor of the appendix def: "A epithelial neoplasm that involves the vermiform appendix." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:21766"} subset: ordo_group_of_disorders {source="Orphanet:423982"} synonym: "appendiceal epithelial tumor" EXACT [Orphanet:423982] synonym: "appendiceal epithelial tumour" EXACT OMO:0003005 [] synonym: "vermiform appendix epithelial neoplasm" EXACT [MONDO:patterns/location] +xref: GARD:21766 {source="Orphanet:423982"} xref: Orphanet:423982 {source="MONDO:equivalentTo"} xref: UMLS:CN237516 {source="MONDO:equivalentTo"} is_a: MONDO:0021118 {source="Orphanet:423982"} ! intestinal neoplasm @@ -356051,8 +371410,10 @@ id: MONDO:0018512 name: obsolete rare epithelial tumor of colon def: "OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21767"} subset: ordo_group_of_disorders {source="Orphanet:423991"} synonym: "rare epithelial tumor of colon" EXACT [MONDO:patterns/rare] +xref: GARD:21767 {source="MONDO:obsoleteEquivalent", source="Orphanet:423991"} xref: Orphanet:423991 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237517 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -356063,6 +371424,7 @@ replaced_by: MONDO:0024479 id: MONDO:0018513 name: squamous cell carcinoma of colon def: "A squamous cell carcinoma that involves the colon." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21768"} subset: ordo_disease {source="Orphanet:423994"} synonym: "colon epidermoid carcinoma" EXACT [NCIT:C5490] synonym: "colon squamous cell cancer" EXACT [NCIT:C5490] @@ -356075,6 +371437,7 @@ synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490] synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490] synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490] xref: DOID:5519 {source="MONDO:equivalentTo"} +xref: GARD:21768 {source="Orphanet:423994"} xref: ICD10CM:C18.0 {source="Orphanet:423994", source="Orphanet:423994/nd"} xref: ICD10CM:C18.2 {source="Orphanet:423994", source="Orphanet:423994/nd"} xref: ICD10CM:C18.3 {source="Orphanet:423994", source="Orphanet:423994/nd"} @@ -356101,9 +371464,11 @@ id: MONDO:0018514 name: obsolete rare epithelial tumor of rectum def: "OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:21769"} subset: ordo_group_of_disorders {source="Orphanet:423998"} synonym: "rare epithelial neoplasm of rectum" EXACT [MONDO:patterns/rare] synonym: "rare rectal epithelial tumor" EXACT [Orphanet:423998] +xref: GARD:21769 {source="MONDO:obsoleteEquivalent", source="Orphanet:423998"} xref: Orphanet:423998 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237519 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -356114,6 +371479,7 @@ replaced_by: MONDO:0024476 id: MONDO:0018515 name: squamous cell carcinoma of rectum def: "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C5554] +subset: gard_rare {source="GARD:21770"} subset: ordo_disease {source="Orphanet:424002"} synonym: "rectal squamous carcinoma" EXACT [NCIT:C5554] synonym: "rectal squamous cell cancer" EXACT [NCIT:C5554] @@ -356124,6 +371490,7 @@ synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554] xref: DOID:5528 {source="MONDO:equivalentTo"} +xref: GARD:21770 {source="Orphanet:424002"} xref: ICD10CM:C20 {source="Orphanet:424002/ntbt", source="Orphanet:424002"} xref: NCIT:C5554 {source="MONDO:equivalentTo", source="DOID:5528"} xref: Orphanet:424002 {source="MONDO:equivalentTo"} @@ -356141,8 +371508,10 @@ id: MONDO:0018516 name: epithelial tumor of anal canal def: "A epithelial neoplasm that involves the anal canal." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:21771"} subset: ordo_group_of_disorders {source="Orphanet:424010"} synonym: "anal canal epithelial neoplasm" EXACT [MONDO:patterns/location] +xref: GARD:21771 {source="Orphanet:424010"} xref: Orphanet:424010 {source="MONDO:equivalentTo"} xref: UMLS:CN237521 {source="MONDO:equivalentTo"} is_a: MONDO:0021118 {source="Orphanet:424010"} ! intestinal neoplasm @@ -356172,8 +371541,10 @@ replaced_by: MONDO:0004132 id: MONDO:0018520 name: obsolete rare epithelial tumor of pancreas subset: disease_grouping +subset: gard_rare {source="GARD:21775"} subset: ordo_group_of_disorders {source="Orphanet:424033"} synonym: "rare pancreatic epithelial tumor" EXACT [Orphanet:424033] +xref: GARD:21775 {source="MONDO:obsoleteEquivalent", source="Orphanet:424033"} xref: Orphanet:424033 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237523 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -356185,11 +371556,13 @@ is_obsolete: true id: MONDO:0018521 name: squamous cell carcinoma of pancreas def: "A squamous cell carcinoma that involves the pancreas." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21776"} subset: ordo_disease {source="Orphanet:424039"} synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039] synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039] xref: DOID:0080323 {source="MONDO:equivalentTo"} +xref: GARD:21776 {source="Orphanet:424039"} xref: ICD10CM:C25.0 {source="Orphanet:424039/nd", source="Orphanet:424039"} xref: ICD10CM:C25.1 {source="Orphanet:424039/nd", source="Orphanet:424039"} xref: ICD10CM:C25.2 {source="Orphanet:424039/nd", source="Orphanet:424039"} @@ -356213,6 +371586,7 @@ replaced_by: MONDO:0006346 id: MONDO:0018523 name: pancreatic mucinous cystadenoma def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." [NCIT:C5718] +subset: gard_rare {source="GARD:21778"} subset: ordo_disease {source="Orphanet:424053"} synonym: "colloid cystadenoma of pancreas" RELATED [NCIT:C5718] synonym: "colloid cystadenoma of the pancreas" RELATED [NCIT:C5718] @@ -356229,6 +371603,7 @@ synonym: "pancreatic mucinous cystadenoma" EXACT [MONDO:0004157, NCIT:C5718] synonym: "pancreatic mucinous cystic neoplasm" RELATED [DOID:7235] xref: DOID:7235 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:7735 {source="MONDO:equivalentTo"} +xref: GARD:21778 {source="Orphanet:424053"} xref: ICD10CM:C25.0 {source="Orphanet:424053/nd", source="Orphanet:424053"} xref: ICD10CM:C25.1 {source="Orphanet:424053/nd", source="Orphanet:424053"} xref: ICD10CM:C25.2 {source="Orphanet:424053/nd", source="Orphanet:424053"} @@ -356256,6 +371631,7 @@ replaced_by: MONDO:0004285 id: MONDO:0018525 name: solid pseudopapillary carcinoma of pancreas def: "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues." [NCIT:C5728] +subset: gard_rare {source="GARD:21780"} subset: ordo_disease {source="Orphanet:424065"} synonym: "pancreatic solid pseudopapillary carcinoma" EXACT [DOID:6827, MONDO:0004003, NCIT:C5728, Orphanet:424065] synonym: "solid pseudopapillary carcinoma of pancreas" EXACT [NCIT:C5728] @@ -356263,6 +371639,7 @@ synonym: "solid pseudopapillary carcinoma of the pancreas" EXACT [NCIT:C5728] synonym: "solid pseudopapillary neoplasm of the pancreas" BROAD [Orphanet:424065] xref: DOID:6827 {source="MONDO:equivalentTo"} xref: EFO:1000542 {source="MONDO:equivalentTo"} +xref: GARD:21780 {source="Orphanet:424065"} xref: ICD10CM:C25.0 {source="Orphanet:424065/nd", source="Orphanet:424065"} xref: ICD10CM:C25.1 {source="Orphanet:424065/nd", source="Orphanet:424065"} xref: ICD10CM:C25.2 {source="Orphanet:424065/nd", source="Orphanet:424065"} @@ -356293,8 +371670,10 @@ replaced_by: MONDO:0006479 id: MONDO:0018528 name: congenital myopathy with myasthenic-like onset def: "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." [Orphanet:424107] +subset: gard_rare {source="GARD:21783"} subset: ordo_disease {source="Orphanet:424107"} synonym: "congenital myopathy with myasthenic-like onset" EXACT CLINGEN_PREFERRED [] +xref: GARD:21783 {source="Orphanet:424107"} xref: ICD10CM:G71.2 {source="Orphanet:424107/attributed", source="Orphanet:424107/ntbt", source="Orphanet:424107"} xref: Orphanet:424107 {source="MONDO:equivalentTo"} xref: SCTID:763315005 {source="MONDO:equivalentTo"} @@ -356305,7 +371684,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0018529 name: obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 +subset: gard_rare {source="GARD:21784"} synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925] +xref: GARD:21784 {source="MONDO:obsoleteEquivalent", source="Orphanet:424925"} xref: Orphanet:424925 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -356316,8 +371697,10 @@ is_obsolete: true id: MONDO:0018530 name: obsolete rare epithelial tumor of liver and intrahepatic biliary tract subset: disease_grouping +subset: gard_rare {source="GARD:21785"} subset: ordo_group_of_disorders {source="Orphanet:424933"} synonym: "rare epithelial tumor of liver and IBT" EXACT [Orphanet:424933] +xref: GARD:21785 {source="MONDO:obsoleteEquivalent", source="Orphanet:424933"} xref: Orphanet:424933 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237535 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -356331,6 +371714,7 @@ name: carcinoma of liver and intrahepatic biliary tract def: "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." [NCIT:C7927] comment: Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper subset: disease_grouping +subset: gard_rare {source="GARD:21786"} subset: ordo_group_of_disorders {source="Orphanet:424936"} synonym: "cancer of liver" BROAD [NCIT:C7927] synonym: "cancer of liver and intrahepatic biliary tract" BROAD [NCIT:C7927] @@ -356349,6 +371733,7 @@ synonym: "liver cancer" BROAD [NCIT:C7927] synonym: "liver carcinoma" BROAD [MONDO:cjm] synonym: "liver/hepatobiliary cancer" BROAD [NCIT:C7927] synonym: "primary liver carcinoma" EXACT [NCIT:C7927] +xref: GARD:21786 {source="Orphanet:424936"} xref: ICD10CM:C22.1 {source="MONDO:equivalentTo"} xref: NCIT:C3828 {source="ONCOTREE:HCCIHCH"} xref: NCIT:C7927 {source="MONDO:equivalentTo"} @@ -356364,9 +371749,11 @@ intersection_of: disease_has_location UBERON:0002107 ! liver [Term] id: MONDO:0018532 name: obsolete adenocarcinoma of liver and intrahepatic biliary tract +subset: gard_rare {source="GARD:21787"} synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943] +xref: GARD:21787 {source="MONDO:obsoleteEquivalent", source="Orphanet:424943"} xref: ICD10CM:C22.0 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: ICD10CM:C22.1 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: Orphanet:424943 {source="MONDO:obsoleteEquivalent"} @@ -356382,8 +371769,10 @@ is_obsolete: true id: MONDO:0018533 name: undifferentiated carcinoma of liver and intrahepatic biliary tract def: "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." [Orphanet:424970] +subset: gard_rare {source="GARD:21788"} subset: ordo_disease {source="Orphanet:424970"} synonym: "undifferentiated carcinoma of liver and IBT" EXACT [Orphanet:424970] +xref: GARD:21788 {source="Orphanet:424970"} xref: ICD10CM:C22.0 {source="Orphanet:424970/nd", source="Orphanet:424970"} xref: ICD10CM:C22.1 {source="Orphanet:424970/nd", source="Orphanet:424970"} xref: ICD10CM:C22.7 {source="Orphanet:424970/nd", source="Orphanet:424970"} @@ -356397,8 +371786,10 @@ intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm id: MONDO:0018534 name: squamous cell carcinoma of liver and intrahepatic biliary tract def: "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." [Orphanet:424975] +subset: gard_rare {source="GARD:21789"} subset: ordo_disease {source="Orphanet:424975"} synonym: "squamous cell carcinoma of liver and IBT" EXACT [Orphanet:424975] +xref: GARD:21789 {source="Orphanet:424975"} xref: ICD10CM:C22.0 {source="Orphanet:424975/nd", source="Orphanet:424975"} xref: ICD10CM:C22.1 {source="Orphanet:424975/nd", source="Orphanet:424975"} xref: Orphanet:424975 {source="MONDO:equivalentTo"} @@ -356411,8 +371802,10 @@ intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm id: MONDO:0018535 name: biliary cystadenocarcinoma def: "A cystadenocarcinoma that involves the biliary tree." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21790"} subset: ordo_disease {source="Orphanet:424982"} synonym: "intrahepatic bile duct cystadenocarcinoma" EXACT [Orphanet:424982] +xref: GARD:21790 {source="Orphanet:424982"} xref: ICD10CM:C22.1 {source="Orphanet:424982/ntbt", source="Orphanet:424982"} xref: Orphanet:424982 {source="MONDO:equivalentTo"} xref: UMLS:C2064409 {source="MONDO:equivalentTo"} @@ -356424,10 +371817,12 @@ intersection_of: disease_has_location UBERON:0001173 ! biliary tree id: MONDO:0018536 name: adenocarcinoma of gallbladder and extrahepatic biliary tract def: "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." [Orphanet:424991] +subset: gard_rare {source="GARD:21791"} subset: ordo_disease {source="Orphanet:424991"} synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991] +xref: GARD:21791 {source="Orphanet:424991"} xref: ICD10CM:C23 {source="Orphanet:424991/nd", source="Orphanet:424991"} xref: ICD10CM:C24.0 {source="Orphanet:424991/nd", source="Orphanet:424991"} xref: ICD10CM:C24.1 {source="Orphanet:424991/nd", source="Orphanet:424991"} @@ -356443,8 +371838,10 @@ intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic bilia id: MONDO:0018537 name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract def: "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." [Orphanet:424996] +subset: gard_rare {source="GARD:21792"} subset: ordo_disease {source="Orphanet:424996"} synonym: "squamous cell carcinoma of gallblader and EBT" EXACT [Orphanet:424996] +xref: GARD:21792 {source="Orphanet:424996"} xref: ICD10CM:C23 {source="Orphanet:424996/nd", source="Orphanet:424996"} xref: ICD10CM:C24.0 {source="Orphanet:424996/nd", source="Orphanet:424996"} xref: ICD10CM:C24.1 {source="Orphanet:424996/nd", source="Orphanet:424996"} @@ -356460,6 +371857,8 @@ intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic bilia [Term] id: MONDO:0018538 name: obsolete inherited digestive cancer-predisposing syndrome +subset: gard_rare {source="GARD:21793"} +xref: GARD:21793 {source="MONDO:obsoleteEquivalent", source="Orphanet:425003"} xref: Orphanet:425003 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -356473,8 +371872,10 @@ is_obsolete: true id: MONDO:0018539 name: obsolete rare epithelial tumor of small intestine subset: disease_grouping +subset: gard_rare {source="GARD:21794"} subset: ordo_group_of_disorders {source="Orphanet:425368"} synonym: "rare epithelial tumor of small bowel" EXACT [Orphanet:425368] +xref: GARD:21794 {source="Orphanet:425368", source="MONDO:obsoleteEquivalent"} xref: Orphanet:425368 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237541 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -356486,6 +371887,7 @@ is_obsolete: true id: MONDO:0018540 name: PFAPA syndrome def: "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." [Orphanet:42642] +subset: gard_rare {source="GARD:5657"} subset: ordo_disease {source="Orphanet:42642"} synonym: "Marshall syndrome" RELATED [NCIT:C116917] synonym: "Marshall syndrome with periodic fever" EXACT [Orphanet:42642] @@ -356493,6 +371895,7 @@ synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [ synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" EXACT [NCIT:C116917] synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642] synonym: "PFAPA" EXACT ABBREVIATION [GARD:0005657] +xref: GARD:5657 {source="Orphanet:42642"} xref: ICD10CM:E85.0 {source="Orphanet:42642/ntbt", source="Orphanet:42642"} xref: NCIT:C116917 {source="MONDO:equivalentTo"} xref: Orphanet:42642 {source="MONDO:equivalentTo"} @@ -356509,7 +371912,9 @@ relationship: excluded_subClassOf MONDO:0015158 {source="Orphanet:42642"} ! unex id: MONDO:0018541 name: familial hypoaldosteronism def: "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." [Orphanet:427] +subset: gard_rare {source="GARD:16532"} subset: ordo_disease {source="Orphanet:427"} +xref: GARD:16532 {source="Orphanet:427"} xref: ICD10CM:E27.4 {source="Orphanet:427/attributed", source="Orphanet:427/ntbt", source="Orphanet:427"} xref: Orphanet:427 {source="MONDO:equivalentTo"} xref: SCTID:715343000 {source="MONDO:equivalentTo"} @@ -356523,10 +371928,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare id: MONDO:0018542 name: severe congenital neutropenia subset: disease_grouping +subset: gard_rare {source="GARD:13592"} subset: ordo_group_of_disorders {source="Orphanet:42738"} synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700] synonym: "SCN" EXACT ABBREVIATION [] xref: DOID:0050590 {source="MONDO:equivalentTo"} +xref: GARD:13592 {source="Orphanet:42738"} xref: ICD10CM:D70 {source="Orphanet:42738/attributed", source="Orphanet:42738/ntbt", source="Orphanet:42738", source="DOID:0050590"} xref: ICD9:288.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10052210 {source="Orphanet:42738/e", source="Orphanet:42738"} @@ -356548,13 +371955,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018543 name: autosomal dominant hypocalcemia def: "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." [Orphanet:428] -subset: gard_rare {source="GARD:0002877"} +subset: gard_rare {source="GARD:2877"} subset: ordo_clinical_subtype {source="Orphanet:428"} synonym: "AD hypocalcemia" EXACT [Orphanet:428] synonym: "HYPOC" RELATED EXCLUDE [DOID:0090109] synonym: "hypocalcemia" BROAD [OMIMPS:601198] synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877] xref: DOID:0090109 {source="MONDO:equivalentTo"} +xref: GARD:2877 {source="Orphanet:428"} xref: ICD10CM:E20.8 {source="Orphanet:428", source="Orphanet:428/attributed", source="Orphanet:428/ntbt", source="DOID:0090109"} xref: OMIMPS:601198 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0090109"} xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"} @@ -356573,6 +371981,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2877/hypocal id: MONDO:0018544 name: adrenoleukodystrophy def: "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." [Orphanet:43] +subset: gard_rare {source="GARD:5758"} subset: ordo_disease {source="Orphanet:43"} synonym: "ABCD1 deficiency" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] synonym: "adrenoleukodystrophy" EXACT CLINGEN_PREFERRED [DOID:10588] @@ -356594,6 +372003,7 @@ synonym: "X-ALD" EXACT [Orphanet:43] synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588] synonym: "X-linked ALD" EXACT [Orphanet:43] xref: DOID:10588 {source="MONDO:equivalentTo"} +xref: GARD:5758 {source="Orphanet:43"} xref: ICD10CM:E71.3 {source="Orphanet:43", source="Orphanet:43/ntbt", source="Orphanet:43/inclusion"} xref: ICD10CM:E71.52 {source="DOID:10588"} xref: ICD10CM:E71.529 {source="DOID:10588"} @@ -356632,7 +372042,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018545 name: obsolete primary immunodeficiency with predisposition to severe viral infection subset: disease_grouping +subset: gard_rare {source="GARD:21795"} subset: ordo_group_of_disorders {source="Orphanet:431156"} +xref: GARD:21795 {source="Orphanet:431156", source="MONDO:obsoleteEquivalent"} xref: Orphanet:431156 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -356640,12 +372052,14 @@ is_obsolete: true id: MONDO:0018546 name: serotonin syndrome def: "Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." [Orphanet:43116] +subset: gard_rare {source="GARD:18828"} subset: ordo_disease {source="Orphanet:43116"} synonym: "serotonergic syndrome" EXACT [Orphanet:43116] synonym: "serotonin storm" EXACT [Orphanet:43116] synonym: "serotonin toxicity" EXACT [Orphanet:43116] synonym: "serotonin toxidrome" EXACT [Orphanet:43116] xref: EFO:1001842 {source="MONDO:equivalentTo"} +xref: GARD:18828 {source="Orphanet:43116"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040108 {source="Orphanet:43116", source="Orphanet:43116/e"} xref: MESH:D020230 {source="Orphanet:43116", source="MONDO:equivalentTo", source="Orphanet:43116/e"} @@ -356658,7 +372072,9 @@ is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder id: MONDO:0018547 name: acute tricyclic antidepressant poisoning def: "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." [Orphanet:43117] +subset: gard_rare {source="GARD:18829"} subset: ordo_clinical_situation {source="Orphanet:43117"} +xref: GARD:18829 {source="Orphanet:43117"} xref: ICD10CM:T43.0 {source="Orphanet:43117/ntbt", source="Orphanet:43117"} xref: Orphanet:43117 {source="MONDO:equivalentTo"} xref: UMLS:CN227537 {source="MONDO:equivalentTo"} @@ -356669,7 +372085,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018548 name: acute poisoning by drugs with membrane-stabilizing effect def: "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." [Orphanet:43119] +subset: gard_rare {source="GARD:18830"} subset: ordo_clinical_situation {source="Orphanet:43119"} +xref: GARD:18830 {source="Orphanet:43119"} xref: Orphanet:43119 {source="MONDO:equivalentTo"} xref: UMLS:CN227538 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning @@ -356679,9 +372097,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0018549 name: obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: progressive muscular dystrophy' +subset: gard_rare {source="GARD:21796"} subset: ordo_group_of_disorders {source="Orphanet:431263"} synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [Orphanet:431263] synonym: "late-onset SPMD with hyaline bodies" EXACT [Orphanet:431263] +xref: GARD:21796 {source="MONDO:obsoleteEquivalent", source="Orphanet:431263"} xref: Orphanet:431263 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237548 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -356692,7 +372112,9 @@ consider: MONDO:0016106 [Term] id: MONDO:0018550 name: obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder +subset: gard_rare {source="GARD:21797"} synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320] +xref: GARD:21797 {source="Orphanet:431320", source="MONDO:obsoleteEquivalent"} xref: Orphanet:431320 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237550 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -356706,9 +372128,11 @@ is_obsolete: true id: MONDO:0018551 name: patent urachus def: "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." [Orphanet:431341] +subset: gard_rare {source="GARD:21798"} subset: ordo_morphological_anomaly {source="Orphanet:431341"} synonym: "patent urachus" EXACT [MONDO:ambiguous] synonym: "patent urachus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:21798 {source="Orphanet:431341"} xref: HP:0010479 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.4 {source="Orphanet:431341", source="Orphanet:431341/ntbt"} xref: NCIT:C99005 {source="MONDO:equivalentTo"} @@ -356723,7 +372147,9 @@ property_value: IAO:0000589 "patent urachus (disease)" xsd:string id: MONDO:0018552 name: urachal sinus def: "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." [Orphanet:431344] +subset: gard_rare {source="GARD:21799"} subset: ordo_morphological_anomaly {source="Orphanet:431344"} +xref: GARD:21799 {source="Orphanet:431344"} xref: ICD10CM:Q64.4 {source="Orphanet:431344", source="Orphanet:431344/ntbt"} xref: Orphanet:431344 {source="MONDO:equivalentTo"} xref: SCTID:451030007 {source="MONDO:equivalentTo"} @@ -356734,8 +372160,10 @@ is_a: MONDO:0018565 {source="Orphanet:431344"} ! congenital urachal anomaly id: MONDO:0018553 name: urachal diverticulum def: "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." [Orphanet:431347] +subset: gard_rare {source="GARD:21800"} subset: ordo_morphological_anomaly {source="Orphanet:431347"} synonym: "Vesicourachal diverticulum" EXACT [Orphanet:431347] +xref: GARD:21800 {source="Orphanet:431347"} xref: ICD10CM:Q64.4 {source="Orphanet:431347", source="Orphanet:431347/ntbt"} xref: NCIT:C123254 {source="MONDO:equivalentTo"} xref: Orphanet:431347 {source="MONDO:equivalentTo"} @@ -356749,9 +372177,11 @@ id: MONDO:0018554 name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis def: "A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." [https://orcid.org/0000-0001-5208-3432, Orphanet:431353] subset: disease_grouping +subset: gard_rare {source="GARD:21801"} subset: ordo_group_of_disorders {source="Orphanet:431353"} synonym: "PVOD and/or PCH" EXACT ABBREVIATION [Orphanet:431353] xref: EFO:0009199 {source="MONDO:equivalentTo"} +xref: GARD:21801 {source="Orphanet:431353"} xref: Orphanet:431353 {source="MONDO:equivalentTo"} xref: UMLS:CN237555 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="MONDO:Entailed", source="Orphanet:431353"} ! respiratory system disorder @@ -356764,6 +372194,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018555 name: hypogonadotropic hypogonadism def: "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." [NCIT:C113347] +subset: gard_rare {source="GARD:16533"} subset: ordo_disease {source="Orphanet:432"} synonym: "central hypogonadism" EXACT [NCIT:C113347] synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [DOID:0090070] @@ -356781,6 +372212,7 @@ synonym: "Normosmic idiopathic hypogonadotropic hypogonadism" EXACT [Orphanet:43 synonym: "secondary hypogonadism" EXACT [NCIT:C113347] xref: DOID:0090070 {source="MONDO:equivalentTo"} xref: DOID:7455 {source="MONDO:equivalentObsolete"} +xref: GARD:16533 {source="Orphanet:432"} xref: HP:0000044 {source="MONDO:otherHierarchy"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:432/ntbt", source="DOID:0090070", source="Orphanet:432/inclusion", source="Orphanet:432"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -356801,7 +372233,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147950"} ! inheri id: MONDO:0018556 name: Lambert-Eaton myasthenic syndrome def: "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." [Orphanet:43393] -subset: gard_rare {source="GARD:0006851"} +subset: gard_rare {source="GARD:6851"} subset: ordo_disease {source="Orphanet:43393"} synonym: "Eaton Lambert syndrome" EXACT [GARD:0006851] synonym: "Eaton-Lambert syndrome" EXACT [DOID:0050214, MESH:D015624] @@ -356812,6 +372244,7 @@ synonym: "LEMS" EXACT ABBREVIATION [DOID:0050214] synonym: "myasthenic syndrome of Lambert-Eaton" EXACT [GARD:0006851] synonym: "myasthenic-myopathic syndrome of Lambert-Eaton" EXACT [GARD:0006851] xref: DOID:0050214 {source="MONDO:equivalentTo"} +xref: GARD:6851 {source="Orphanet:43393"} xref: ICD10CM:G70.80 {source="DOID:0050214"} xref: ICD10CM:G73.1 {source="Orphanet:43393/e", source="Orphanet:43393"} xref: ICD9:358.3 {source="DOID:0050214"} @@ -356831,8 +372264,10 @@ id: MONDO:0018557 name: obsolete rare genetic autonomic nervous system disorder def: "OBSOLETE. Rare genetic autonomic nervous system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:21802"} subset: ordo_group_of_disorders {source="Orphanet:434786"} synonym: "rare genetic autonomic nervous system disease" EXACT [] +xref: GARD:21802 {source="Orphanet:434786", source="MONDO:obsoleteEquivalent"} xref: Orphanet:434786 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237558 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -356843,7 +372278,9 @@ replaced_by: MONDO:0001292 id: MONDO:0018558 name: obsolete syndrome with wooly hair comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:21803"} subset: ordo_group_of_disorders {source="Orphanet:434809"} +xref: GARD:21803 {source="MONDO:obsoleteEquivalent", source="Orphanet:434809"} xref: Orphanet:434809 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0345427 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:434809"} property_value: IAO:0000231 OMO:0001000 @@ -356855,8 +372292,10 @@ consider: MONDO:0002254 id: MONDO:0018559 name: fetal lower urinary tract obstruction subset: disease_grouping +subset: gard_rare {source="GARD:21804"} subset: ordo_group_of_disorders {source="Orphanet:435365"} synonym: "LUTO" EXACT ABBREVIATION [Orphanet:435365] +xref: GARD:21804 {source="Orphanet:435365"} xref: Orphanet:435365 {source="MONDO:equivalentTo"} xref: SCTID:717752005 {source="MONDO:equivalentTo"} xref: UMLS:C4305545 {source="MONDO:equivalentTo"} @@ -356872,7 +372311,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source=" id: MONDO:0018560 name: obsolete anterior urethral valve comment: out of scope {source="MONDO:excludePhenotype"} +subset: gard_rare {source="GARD:21805"} subset: ordo_morphological_anomaly {source="Orphanet:435372"} +xref: GARD:21805 {source="MONDO:obsoleteEquivalent", source="Orphanet:435372"} xref: ICD10CM:Q64.7 {source="Orphanet:435372/attributed", source="Orphanet:435372/ntbt", source="Orphanet:435372"} xref: Orphanet:435372 {source="MONDO:obsoleteEquivalent"} xref: SCTID:253907008 {source="MONDO:obsoleteEquivalent"} @@ -356885,9 +372326,11 @@ id: MONDO:0018561 name: precocious puberty in female def: "A precocious puberty that involves the female organism." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:21807"} subset: ordo_group_of_disorders {source="Orphanet:435561"} synonym: "female organism precocious puberty" EXACT [MONDO:patterns/location] synonym: "precocious puberty of female organism" EXACT [] +xref: GARD:21807 {source="Orphanet:435561"} xref: HP:0010465 xref: Orphanet:435561 {source="MONDO:equivalentTo"} xref: UMLS:C0271616 {source="MONDO:equivalentTo"} @@ -356897,7 +372340,9 @@ intersection_of: disease_has_location UBERON:0003100 ! female organism [Term] id: MONDO:0018562 name: obsolete hereditary otorhinolaryngological malformation +subset: gard_rare {source="GARD:21809"} synonym: "genetic otorhinolaryngological malformation" EXACT [Orphanet:435603] +xref: GARD:21809 {source="MONDO:obsoleteEquivalent", source="Orphanet:435603"} xref: Orphanet:435603 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -356924,10 +372369,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018564 name: 3p25.3 microdeletion syndrome def: "A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." [Orphanet:435638] +subset: gard_rare {source="GARD:21813"} subset: ordo_malformation_syndrome {source="Orphanet:435638"} synonym: "Del(3)p(25.3)" EXACT [Orphanet:435638] synonym: "intellectual disability-epilepsy-stereotypic hand movement syndrome" EXACT [Orphanet:435638] synonym: "monosomy 3p25.3" EXACT [Orphanet:435638] +xref: GARD:21813 {source="Orphanet:435638"} xref: ICD10CM:Q93.5 {source="Orphanet:435638", source="Orphanet:435638/attributed", source="Orphanet:435638/ntbt"} xref: Orphanet:435638 {source="MONDO:equivalentTo"} xref: UMLS:CN237571 {source="MONDO:equivalentTo"} @@ -356943,7 +372390,9 @@ id: MONDO:0018565 name: congenital urachal anomaly def: "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." [Orphanet:435743] subset: disease_grouping +subset: gard_rare {source="GARD:21814"} subset: ordo_group_of_disorders {source="Orphanet:435743"} +xref: GARD:21814 {source="Orphanet:435743"} xref: Orphanet:435743 {source="MONDO:equivalentTo"} xref: UMLS:C1739100 {source="Orphanet:435743", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder @@ -356951,7 +372400,9 @@ is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary s [Term] id: MONDO:0018566 name: short stature-advanced bone age-early-onset osteoarthritis syndrome +subset: gard_rare {source="GARD:17717"} subset: ordo_disease {source="Orphanet:435804"} +xref: GARD:17717 {source="Orphanet:435804"} xref: ICD10CM:M89.8 {source="Orphanet:435804", source="Orphanet:435804/attributed", source="Orphanet:435804/ntbt"} xref: Orphanet:435804 {source="MONDO:equivalentTo"} xref: UMLS:CN237575 {source="MONDO:equivalentTo"} @@ -356960,8 +372411,10 @@ is_a: MONDO:0018230 {source="Orphanet:435804"} ! skeletal dysplasia [Term] id: MONDO:0018567 name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation +subset: gard_rare {source="GARD:21815"} subset: ordo_disease {source="Orphanet:435819"} synonym: "CMT2 due to TFG mutation" EXACT [Orphanet:435819] +xref: GARD:21815 {source="Orphanet:435819"} xref: ICD10CM:G60.0 {source="Orphanet:435819/attributed", source="Orphanet:435819/ntbt", source="Orphanet:435819"} xref: Orphanet:435819 {source="MONDO:equivalentTo"} xref: UMLS:CN237576 {source="MONDO:equivalentTo"} @@ -356982,7 +372435,9 @@ replaced_by: MONDO:0054559 id: MONDO:0018569 name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome def: "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." [Orphanet:435938] +subset: gard_rare {source="GARD:17721"} subset: ordo_malformation_syndrome {source="Orphanet:435938"} +xref: GARD:17721 {source="Orphanet:435938"} xref: ICD10CM:Q87.8 {source="Orphanet:435938/attributed", source="Orphanet:435938/ntbt", source="Orphanet:435938"} xref: Orphanet:435938 {source="MONDO:equivalentTo"} xref: UMLS:CN237580 {source="MONDO:equivalentTo"} @@ -356994,6 +372449,7 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:435938"} ! X-l id: MONDO:0018570 name: hypophosphatasia def: "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." [Orphanet:436] +subset: gard_rare {source="GARD:6734"} subset: ordo_disease {source="Orphanet:436"} synonym: "childhood hypophosphatasia" NARROW [DOID:14213] synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213] @@ -357005,6 +372461,7 @@ synonym: "phosphoethanol-aminuria" RELATED [GARD:0006734] synonym: "phosphoethanolaminuria" EXACT [Orphanet:436] synonym: "Rathburn disease" EXACT [Orphanet:436] xref: DOID:14213 {source="MONDO:equivalentTo"} +xref: GARD:6734 {source="Orphanet:436"} xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"} xref: ICD10CM:E83.39 {source="DOID:14213"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -357031,8 +372488,10 @@ relationship: has_characteristic HP:0000006 {source="Orphanet:436"} ! Autosomal [Term] id: MONDO:0018571 name: contractures-developmental delay-Pierre Robin syndrome +subset: gard_rare {source="GARD:21816"} subset: ordo_malformation_syndrome {source="Orphanet:436003"} synonym: "5q23 microdeletion syndrome" EXACT [Orphanet:436003] +xref: GARD:21816 {source="Orphanet:436003"} xref: ICD10CM:Q87.0 {source="Orphanet:436003/attributed", source="Orphanet:436003/ntbt", source="Orphanet:436003"} xref: Orphanet:436003 {source="MONDO:equivalentTo"} xref: UMLS:CN237584 {source="MONDO:equivalentTo"} @@ -357042,7 +372501,9 @@ is_a: MONDO:0016904 {source="Orphanet:436003"} ! partial deletion of the long ar [Term] id: MONDO:0018572 name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome +subset: gard_rare {source="GARD:21817"} subset: ordo_malformation_syndrome {source="Orphanet:436141"} +xref: GARD:21817 {source="Orphanet:436141"} xref: ICD10CM:Q87.8 {source="Orphanet:436141", source="Orphanet:436141/attributed", source="Orphanet:436141/ntbt"} xref: Orphanet:436141 {source="MONDO:equivalentTo"} xref: UMLS:CN237585 {source="MONDO:equivalentTo"} @@ -357057,7 +372518,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018573 name: intrauterine growth restriction-short stature-early adult-onset diabetes syndrome +subset: gard_rare {source="GARD:21818"} subset: ordo_disease {source="Orphanet:436144"} +xref: GARD:21818 {source="Orphanet:436144"} xref: ICD10CM:Q87.1 {source="Orphanet:436144/attributed", source="Orphanet:436144/ntbt", source="Orphanet:436144"} xref: Orphanet:436144 {source="MONDO:equivalentTo"} xref: UMLS:CN237586 {source="MONDO:equivalentTo"} @@ -357068,7 +372531,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018574 name: obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17724"} synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151] +xref: GARD:17724 {source="MONDO:obsoleteEquivalent", source="Orphanet:436151"} xref: ICD10CM:Q87.0 {source="Orphanet:436151", source="Orphanet:436151/attributed", source="Orphanet:436151/ntbt"} xref: Orphanet:436151 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237587 {source="MONDO:obsoleteEquivalent"} @@ -357082,6 +372547,8 @@ is_obsolete: true [Term] id: MONDO:0018575 name: obsolete microcephalic primordial dwarfism-insulin resistance syndrome +subset: gard_rare {source="GARD:17728"} +xref: GARD:17728 {source="MONDO:obsoleteEquivalent", source="Orphanet:436182"} xref: ICD10CM:Q87.1 {source="Orphanet:436182", source="Orphanet:436182/attributed", source="Orphanet:436182/ntbt"} xref: Orphanet:436182 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237592 {source="MONDO:obsoleteEquivalent"} @@ -357097,7 +372564,9 @@ is_obsolete: true [Term] id: MONDO:0018576 name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy +subset: gard_rare {source="GARD:21819"} subset: ordo_disease {source="Orphanet:436271"} +xref: GARD:21819 {source="Orphanet:436271"} xref: ICD10CM:G93.4 {source="Orphanet:436271", source="Orphanet:436271/attributed", source="Orphanet:436271/ntbt"} xref: Orphanet:436271 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -357107,8 +372576,10 @@ is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral n [Term] id: MONDO:0018577 name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa +subset: gard_rare {source="GARD:21820"} subset: ordo_disease {source="Orphanet:436274"} synonym: "PXE-like syndrome with retinitis pigmentosa" EXACT [Orphanet:436274] +xref: GARD:21820 {source="Orphanet:436274"} xref: ICD10CM:Q82.8 {source="Orphanet:436274/attributed", source="Orphanet:436274/ntbt", source="Orphanet:436274"} xref: Orphanet:436274 {source="MONDO:equivalentTo"} xref: UMLS:CN237597 {source="MONDO:equivalentTo"} @@ -357127,8 +372598,10 @@ replaced_by: MONDO:0000044 [Term] id: MONDO:0018579 name: obsolete disorder of ketone body transport +subset: gard_rare {source="GARD:21821"} synonym: "disorder of keton body transport" RELATED DUBIOUS [Orphanet:438072] synonym: "disorder of ketone body transport" EXACT [] +xref: GARD:21821 {source="MONDO:obsoleteEquivalent", source="Orphanet:438072"} xref: Orphanet:438072 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237600 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -357140,6 +372613,8 @@ is_obsolete: true [Term] id: MONDO:0018580 name: obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +subset: gard_rare {source="GARD:17739"} +xref: GARD:17739 {source="MONDO:obsoleteEquivalent", source="Orphanet:438213"} xref: ICD10CM:G40.4 {source="Orphanet:438213/attributed", source="Orphanet:438213/ntbt", source="Orphanet:438213"} xref: Orphanet:438213 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237608 {source="MONDO:obsoleteEquivalent"} @@ -357154,9 +372629,10 @@ is_obsolete: true [Term] id: MONDO:0018581 name: progressive encephalomyelitis with rigidity and myoclonus -subset: gard_rare {source="GARD:0013110"} +subset: gard_rare {source="GARD:13110"} subset: ordo_clinical_subtype {source="Orphanet:438266"} synonym: "perm" EXACT [Orphanet:438266] +xref: GARD:13110 {source="Orphanet:438266"} xref: ICD10CM:G04.8 {source="Orphanet:438266", source="Orphanet:438266/ntbt"} xref: Orphanet:438266 {source="MONDO:equivalentTo"} xref: UMLS:C1861457 {source="MONDO:equivalentTo", source="Orphanet:438266"} @@ -357168,6 +372644,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13110/progre id: MONDO:0018582 name: GCGR-related hyperglucagonemia def: "A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus." [Orphanet:438274] +subset: gard_rare {source="GARD:10460"} subset: ordo_disease {source="Orphanet:438274"} synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [OMIM:619290] synonym: "Mahvash disease" EXACT [Orphanet:438274] @@ -357177,6 +372654,7 @@ synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfuncti synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] xref: DOID:0112306 {source="MONDO:equivalentTo"} +xref: GARD:10460 {source="Orphanet:438274"} xref: ICD10CM:E16.3 {source="Orphanet:438274", source="Orphanet:438274/ntbt"} xref: OMIM:619290 {source="MONDO:equivalentTo"} xref: Orphanet:438274 {source="MONDO:equivalentTo"} @@ -357187,7 +372665,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621", source=" [Term] id: MONDO:0018583 name: human infection by orthopoxvirus +subset: gard_rare {source="GARD:21822"} subset: ordo_disease {source="Orphanet:438279"} +xref: GARD:21822 {source="Orphanet:438279"} xref: ICD10CM:B08.0 {source="Orphanet:438279/e", source="Orphanet:438279"} xref: Orphanet:438279 {source="MONDO:equivalentTo"} xref: UMLS:CN237612 {source="MONDO:equivalentTo"} @@ -357203,12 +372683,14 @@ replaced_by: MONDO:0005919 [Term] id: MONDO:0018585 name: pediatric arterial ischemic stroke +subset: gard_rare {source="GARD:21824"} subset: ordo_clinical_syndrome {source="Orphanet:439175"} synonym: "childhood AIS" EXACT [Orphanet:439175] synonym: "childhood arterial ischaemic stroke" EXACT OMO:0003005 [] synonym: "childhood arterial ischemic stroke" EXACT [Orphanet:439175] synonym: "paediatric AIS" EXACT OMO:0003005 [] synonym: "pediatric AIS" EXACT [Orphanet:439175] +xref: GARD:21824 {source="Orphanet:439175"} xref: ICD10CM:I63.5 {source="Orphanet:439175", source="Orphanet:439175/ntbt"} xref: Orphanet:439175 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="Orphanet:439175", source="Orphanet:439175/inferred"} ! vascular disorder @@ -357221,9 +372703,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048", source=" [Term] id: MONDO:0018586 name: zinc-responsive necrolytic acral erythema +subset: gard_rare {source="GARD:21825"} subset: ordo_clinical_situation {source="Orphanet:439196"} synonym: "NAE" EXACT ABBREVIATION [Orphanet:439196] synonym: "necrolytic acral erythema" EXACT [Orphanet:439196] +xref: GARD:21825 {source="Orphanet:439196"} xref: ICD10CM:L53.8 {source="Orphanet:439196", source="Orphanet:439196/ntbt"} xref: Orphanet:439196 {source="MONDO:equivalentTo"} xref: SCTID:762543009 {source="MONDO:equivalentTo"} @@ -357234,11 +372718,13 @@ relationship: disease_responds_to CHEBI:27363 ! zinc atom [Term] id: MONDO:0018587 name: non-recovering obstetric brachial plexus lesion +subset: gard_rare {source="GARD:21826"} subset: ordo_disease {source="Orphanet:439202"} synonym: "chronic obstetric brachial plexus injury" EXACT [Orphanet:439202] synonym: "chronic obstetric brachial plexus palsy" EXACT [Orphanet:439202] synonym: "non-recovering OBPI" EXACT [Orphanet:439202] synonym: "non-recovering OBPL" EXACT [Orphanet:439202] +xref: GARD:21826 {source="Orphanet:439202"} xref: ICD10CM:P14.3 {source="Orphanet:439202/ntbt", source="Orphanet:439202"} xref: Orphanet:439202 {source="MONDO:equivalentTo"} xref: UMLS:CN237616 {source="MONDO:equivalentTo"} @@ -357248,9 +372734,11 @@ is_a: MONDO:0015923 {source="Orphanet:439202"} ! acquired peripheral neuropathy id: MONDO:0018588 name: ALECT2 amyloidosis def: "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." [Orphanet:439224] +subset: gard_rare {source="GARD:21827"} subset: ordo_disease {source="Orphanet:439224"} synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224] +xref: GARD:21827 {source="Orphanet:439224"} xref: ICD10CM:E85.8 {source="Orphanet:439224/ntbt", source="Orphanet:439224"} xref: Orphanet:439224 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis @@ -357258,9 +372746,11 @@ is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis [Term] id: MONDO:0018589 name: AApoAIV amyloidosis +subset: gard_rare {source="GARD:21828"} subset: ordo_disease {source="Orphanet:439232"} synonym: "apolipoprotein A-IV amyloidosis" EXACT [Orphanet:439232] xref: DOID:0080927 {source="MONDO:equivalentTo"} +xref: GARD:21828 {source="Orphanet:439232"} xref: ICD10CM:E85.8 {source="Orphanet:439232", source="Orphanet:439232/ntbt"} xref: Orphanet:439232 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis @@ -357270,19 +372760,23 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232"} ! obs id: MONDO:0018590 name: ABeta2M amyloidosis subset: disease_grouping +subset: gard_rare {source="GARD:21829"} subset: ordo_group_of_disorders {source="Orphanet:439246"} synonym: "Beta2-microglobulinic amyloidosis" EXACT [Orphanet:439246] xref: DOID:0080928 {source="MONDO:equivalentTo"} +xref: GARD:21829 {source="Orphanet:439246"} xref: Orphanet:439246 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439246"} ! amyloidosis [Term] id: MONDO:0018591 name: ITM2B amyloidosis +subset: gard_rare {source="GARD:17741"} subset: ordo_disease {source="Orphanet:439254"} synonym: "familial cerebral amyloid angiopathy" EXACT [Orphanet:439254] synonym: "ITM2B-related amyloidosis" EXACT [Orphanet:439254] synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254] +xref: GARD:17741 {source="Orphanet:439254"} xref: ICD10EXP:E85.4+ {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -357298,10 +372792,11 @@ relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:439254"} id: MONDO:0018592 name: cutaneous polyarteritis nodosa def: "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." [Orphanet:439729] -subset: gard_rare {source="GARD:0007415"} +subset: gard_rare {source="GARD:7415"} subset: ordo_clinical_subtype {source="Orphanet:439729"} synonym: "cutaneous PAN" EXACT [Orphanet:439729] synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729] +xref: GARD:7415 {source="Orphanet:439729"} xref: ICD10CM:M30.0 {source="Orphanet:439729", source="Orphanet:439729/ntbt"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C117295 {source="MONDO:equivalentTo"} @@ -357316,9 +372811,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7415/cutaneo [Term] id: MONDO:0018593 name: primary polyarteritis nodosa +subset: gard_rare {source="GARD:21830"} subset: ordo_clinical_subtype {source="Orphanet:439737"} synonym: "primary PAN" EXACT [Orphanet:439737] synonym: "primary periarteritis nodosa" EXACT [Orphanet:439737] +xref: GARD:21830 {source="Orphanet:439737"} xref: ICD10CM:M30.0 {source="Orphanet:439737", source="Orphanet:439737/e"} xref: Orphanet:439737 {source="MONDO:equivalentTo"} xref: UMLS:CN237623 {source="MONDO:equivalentTo"} @@ -357328,10 +372825,12 @@ is_a: MONDO:0019170 {source="Orphanet:439737"} ! polyarteritis nodosa id: MONDO:0018594 name: secondary polyarteritis nodosa def: "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." [Orphanet:439746] +subset: gard_rare {source="GARD:21831"} subset: ordo_clinical_subtype {source="Orphanet:439746"} synonym: "Scondary PAN" EXACT [Orphanet:439746] synonym: "secondary PAN" EXACT [Orphanet:439746] synonym: "secondary periarteritis nodosa" EXACT [Orphanet:439746] +xref: GARD:21831 {source="Orphanet:439746"} xref: ICD10CM:M30.8 {source="Orphanet:439746", source="Orphanet:439746/ntbt"} xref: Orphanet:439746 {source="MONDO:equivalentTo"} xref: UMLS:CN237624 {source="MONDO:equivalentTo"} @@ -357341,9 +372840,11 @@ is_a: MONDO:0019170 {source="Orphanet:439746"} ! polyarteritis nodosa id: MONDO:0018595 name: single-organ polyarteritis nodosa def: "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." [Orphanet:439755] +subset: gard_rare {source="GARD:21832"} subset: ordo_clinical_subtype {source="Orphanet:439755"} synonym: "single-organ PAN" EXACT [Orphanet:439755] synonym: "single-organ periarteritis nodosa" EXACT [Orphanet:439755] +xref: GARD:21832 {source="Orphanet:439755"} xref: ICD10CM:M30.0 {source="Orphanet:439755/ntbt", source="Orphanet:439755"} xref: Orphanet:439755 {source="MONDO:equivalentTo"} xref: UMLS:CN242112 {source="MONDO:equivalentTo"} @@ -357353,9 +372854,11 @@ is_a: MONDO:0018593 {source="Orphanet:439755"} ! primary polyarteritis nodosa id: MONDO:0018596 name: systemic polyarteritis nodosa def: "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." [Orphanet:439762] +subset: gard_rare {source="GARD:21833"} subset: ordo_clinical_subtype {source="Orphanet:439762"} synonym: "systemic PAN" EXACT [Orphanet:439762] synonym: "systemic periarteritis nodosa" EXACT [Orphanet:439762] +xref: GARD:21833 {source="Orphanet:439762"} xref: ICD10CM:M30.0 {source="Orphanet:439762", source="Orphanet:439762/ntbt"} xref: Orphanet:439762 {source="MONDO:equivalentTo"} xref: UMLS:C0031036 {source="Orphanet:439762"} @@ -357367,10 +372870,12 @@ property_value: confidence "0.45384615384615357" xsd:double id: MONDO:0018597 name: plastic bronchitis def: "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." [https://www.chop.edu/conditions-diseases/plastic-bronchitis] +subset: gard_rare {source="GARD:21835"} subset: ordo_clinical_situation {source="Orphanet:439881"} synonym: "croupous bronchitis" EXACT [Orphanet:439881] synonym: "fibrinous bronchitis" EXACT [Orphanet:439881] synonym: "pseudo-membranous bronchitis" EXACT [Orphanet:439881] +xref: GARD:21835 {source="Orphanet:439881"} xref: Orphanet:439881 {source="MONDO:equivalentTo"} xref: SCTID:53926002 {source="MONDO:equivalentTo"} xref: UMLS:C0264342 {source="MONDO:equivalentTo", source="Orphanet:439881"} @@ -357382,10 +372887,11 @@ relationship: disease_has_location UBERON:0006558 ! lymphatic part of lymphoid s id: MONDO:0018598 name: obsolete neonatal adrenoleukodystrophy def: "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." [Orphanet:44] -subset: gard_rare {source="GARD:0000559"} +subset: gard_rare {source="GARD:559"} subset: ordo_disease {source="Orphanet:44"} synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559] synonym: "NALD" EXACT ABBREVIATION [Orphanet:44] +xref: GARD:559 {source="Orphanet:44", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E71.3 {source="Orphanet:44/attributed", source="Orphanet:44/ntbt", source="Orphanet:44"} xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"} xref: MESH:D018901 {source="Orphanet:44", source="Orphanet:44/e"} @@ -357402,9 +372908,11 @@ consider: MONDO:0019609 [Term] id: MONDO:0018599 name: congenital oculomotor nerve palsy +subset: gard_rare {source="GARD:21836"} subset: ordo_disease {source="Orphanet:440221"} synonym: "congenital CNIII lesion" EXACT [Orphanet:440221] synonym: "congenital third cranial nerve palsy" EXACT [Orphanet:440221] +xref: GARD:21836 {source="Orphanet:440221"} xref: ICD10CM:Q07.8 {source="Orphanet:440221", source="Orphanet:440221/attributed", source="Orphanet:440221/ntbt"} xref: Orphanet:440221 {source="MONDO:equivalentTo"} is_a: MONDO:0015083 {source="Orphanet:440221"} ! nuclear oculomotor paralysis @@ -357414,9 +372922,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018600 name: congenital abducens nerve palsy +subset: gard_rare {source="GARD:21837"} subset: ordo_disease {source="Orphanet:440233"} synonym: "benign congenital sixth cranial nerve palsy" EXACT [Orphanet:440233] synonym: "congenital CNVI palsy" EXACT [Orphanet:440233] +xref: GARD:21837 {source="Orphanet:440233"} xref: ICD10CM:Q07.8 {source="Orphanet:440233/attributed", source="Orphanet:440233/ntbt", source="Orphanet:440233"} xref: Orphanet:440233 {source="MONDO:equivalentTo"} is_a: MONDO:0015083 {source="Orphanet:440233"} ! nuclear oculomotor paralysis @@ -357426,7 +372936,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018601 name: autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome +subset: gard_rare {source="GARD:21838"} subset: ordo_malformation_syndrome {source="Orphanet:440354"} +xref: GARD:21838 {source="Orphanet:440354"} xref: Orphanet:440354 {source="MONDO:equivalentTo"} xref: UMLS:CN237631 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -357436,8 +372948,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018602 name: necrotizing soft tissue infection +subset: gard_rare {source="GARD:21839"} subset: ordo_disease {source="Orphanet:440368"} synonym: "NSTI" EXACT ABBREVIATION [Orphanet:440368] +xref: GARD:21839 {source="Orphanet:440368"} xref: ICD10CM:M72.6 {source="MONDO:relatedTo", source="Orphanet:440368", source="Orphanet:440368/ntbt"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -357451,8 +372965,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare [Term] id: MONDO:0018603 name: interstitial lung disease due to SP-C deficiency +subset: gard_rare {source="GARD:17744"} subset: ordo_disease {source="Orphanet:440392"} synonym: "interstitial lung disease due to surfactant protein C deficiency" EXACT [Orphanet:440392] +xref: GARD:17744 {source="Orphanet:440392"} xref: ICD10CM:J84.8 {source="Orphanet:440392/attributed", source="Orphanet:440392/ntbt", source="Orphanet:440392"} xref: Orphanet:440392 {source="MONDO:equivalentTo"} xref: UMLS:CN237633 {source="MONDO:equivalentTo"} @@ -357463,9 +372979,11 @@ property_value: confidence "0.025156250000000213" xsd:double id: MONDO:0018604 name: familial colorectal cancer type X def: "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." [NCIT:P378] +subset: gard_rare {source="GARD:21840"} subset: ordo_disease {source="Orphanet:440437"} synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084] synonym: "FCCTX" EXACT ABBREVIATION [NCIT:C120084, Orphanet:440437] +xref: GARD:21840 {source="Orphanet:440437"} xref: ICD10CM:C18.0 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} xref: ICD10CM:C18.1 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} xref: ICD10CM:C18.2 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} @@ -357484,7 +373002,9 @@ is_a: MONDO:0018630 {source="NCIT:C120084", source="Orphanet:440437"} ! heredita id: MONDO:0018605 name: disorders of pentose/polyol metabolism subset: disease_grouping +subset: gard_rare {source="GARD:21841"} subset: ordo_group_of_disorders {source="Orphanet:440701"} +xref: GARD:21841 {source="Orphanet:440701"} xref: Orphanet:440701 {source="MONDO:equivalentTo"} xref: UMLS:CN237637 {source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="Orphanet:440701"} ! inborn carbohydrate metabolic disorder @@ -357492,7 +373012,9 @@ is_a: MONDO:0019214 {source="Orphanet:440701"} ! inborn carbohydrate metabolic d [Term] id: MONDO:0018606 name: extensive peripapillary myelinated nerve fibers +subset: gard_rare {source="GARD:21842"} subset: ordo_disease {source="Orphanet:440724"} +xref: GARD:21842 {source="Orphanet:440724"} xref: Orphanet:440724 {source="MONDO:equivalentTo"} xref: UMLS:CN237640 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder @@ -357502,9 +373024,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare [Term] id: MONDO:0018607 name: combined hamartoma of the retina and retinal pigment epithelium +subset: gard_rare {source="GARD:21843"} subset: ordo_disease {source="Orphanet:440727"} synonym: "CHR-RPE" EXACT [Orphanet:440727] synonym: "combined hamartoma of the retina and RPE" EXACT [Orphanet:440727] +xref: GARD:21843 {source="Orphanet:440727"} xref: NCIT:C174548 {source="MONDO:equivalentTo"} xref: Orphanet:440727 {source="MONDO:equivalentTo"} xref: UMLS:C1862062 {source="MONDO:equivalentTo"} @@ -357516,6 +373040,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare id: MONDO:0018608 name: pure autonomic failure def: "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." [Orphanet:441] +subset: gard_rare {source="GARD:10428"} subset: ordo_disease {source="Orphanet:441"} synonym: "Bradbury Eggleston syndrome" EXACT [GARD:0010428] synonym: "Bradbury-Eggleston syndrome" EXACT [Orphanet:441] @@ -357525,6 +373050,7 @@ synonym: "orthostatic hypotension (a symptom)" RELATED [GARD:0010428] synonym: "PAF" EXACT ABBREVIATION [Orphanet:441] synonym: "Pure dysautonomia" EXACT [Orphanet:441] synonym: "Pure idiopatic dysautonomia" EXACT [Orphanet:441] +xref: GARD:10428 {source="Orphanet:441"} xref: ICD10CM:G90.3 {source="Orphanet:441/ntbt", source="Orphanet:441"} xref: MESH:C544351 {source="Orphanet:441/e", source="Orphanet:441"} xref: MESH:D054970 {source="Orphanet:441/e", source="MONDO:equivalentTo", source="Orphanet:441"} @@ -357542,9 +373068,11 @@ property_value: confidence "0.21851851851851856" xsd:double id: MONDO:0018609 name: obsolete syndromic hereditary optic neuropathy def: "OBSOLETE. A hereditary optic neuropathy that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:21845"} subset: ordo_group_of_disorders {source="Orphanet:441434"} synonym: "syndrome associated with hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic] +xref: GARD:21845 {source="MONDO:obsoleteEquivalent", source="Orphanet:441434"} xref: Orphanet:441434 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237645 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} @@ -357555,7 +373083,9 @@ consider: MONDO:0020249 [Term] id: MONDO:0018610 name: early-onset posterior subcapsular cataract +subset: gard_rare {source="GARD:21846"} subset: ordo_clinical_subtype {source="Orphanet:441447"} +xref: GARD:21846 {source="Orphanet:441447"} xref: ICD10CM:H26.0 {source="Orphanet:441447", source="Orphanet:441447/attributed", source="Orphanet:441447/ntbt"} xref: Orphanet:441447 {source="MONDO:equivalentTo"} xref: UMLS:CN237646 {source="MONDO:equivalentTo"} @@ -357564,7 +373094,9 @@ is_a: MONDO:0020377 {source="Orphanet:441447"} ! early-onset partial cataract [Term] id: MONDO:0018611 name: early-onset lamellar cataract +subset: gard_rare {source="GARD:13155"} subset: ordo_clinical_subtype {source="Orphanet:441452"} +xref: GARD:13155 {source="Orphanet:441452"} xref: Orphanet:441452 {source="MONDO:equivalentTo"} xref: UMLS:CN237647 {source="MONDO:equivalentTo"} is_a: MONDO:0013411 ! cataract 16 multiple types @@ -357575,6 +373107,7 @@ id: MONDO:0018612 name: congenital hypothyroidism def: "A thyroid hormone deficiency present from birth." [Orphanet:442] subset: disease_grouping +subset: gard_rare {source="GARD:1487"} subset: ordo_group_of_disorders {source="Orphanet:442"} synonym: "congenital goiter" RELATED [] synonym: "congenital goitre" RELATED OMO:0003005 [] @@ -357586,6 +373119,7 @@ synonym: "fetal iodine deficiency syndrome" RELATED [] synonym: "foetal iodine deficiency syndrome" RELATED OMO:0003005 [] synonym: "infantile hypothyroidism" RELATED [] xref: DOID:0050328 {source="MONDO:equivalentTo"} +xref: GARD:1487 {source="Orphanet:442"} xref: ICD10CM:E00.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} xref: ICD10CM:E00.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"} xref: ICD10CM:E00.2 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} @@ -357622,9 +373156,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018613 name: AH amyloidosis +subset: gard_rare {source="GARD:21847"} subset: ordo_disease {source="Orphanet:442582"} synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582] xref: DOID:0080934 {source="MONDO:equivalentTo"} +xref: GARD:21847 {source="Orphanet:442582"} xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"} xref: NCIT:C158962 {source="MONDO:equivalentTo"} xref: Orphanet:442582 {source="MONDO:equivalentTo"} @@ -357635,9 +373171,11 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:442582"} ! obs id: MONDO:0018614 name: undetermined early-onset epileptic encephalopathy def: "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." [Orphanet:442835] +subset: gard_rare {source="GARD:15028"} subset: ordo_disease {source="Orphanet:442835"} synonym: "undetermined early-onset epileptic encephalopathy" EXACT CLINGEN_PREFERRED [] synonym: "undetermined EOEE" EXACT [Orphanet:442835] +xref: GARD:15028 {source="Orphanet:442835"} xref: ICD10CM:G40.4 {source="Orphanet:442835/attributed", source="Orphanet:442835/ntbt", source="Orphanet:442835"} xref: Orphanet:442835 {source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport @@ -357650,8 +373188,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018615 name: hemicrania continua def: "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." [https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua] -subset: gard_rare {source="GARD:0010795"} +subset: gard_rare {source="GARD:10795"} subset: ordo_disease {source="Orphanet:443070"} +xref: GARD:10795 {source="Orphanet:443070"} xref: ICD10CM:G44.0 {source="Orphanet:443070", source="Orphanet:443070/ntbt"} xref: ICD10CM:G44.51 {source="MONDO:equivalentTo"} xref: ICD9:339.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -357666,13 +373205,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10795/hemicr id: MONDO:0018616 name: central serous chorioretinopathy def: "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." [https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy] -subset: gard_rare {source="GARD:0000200"} +subset: gard_rare {source="GARD:200"} subset: ordo_disease {source="Orphanet:443079"} synonym: "central serous chorioretinopathy after bone marrow transplantation" RELATED [GARD:0000200] synonym: "central serous choroidopathy" RELATED [GARD:0000200] synonym: "central serous retinopathy" EXACT [NCIT:C115124] synonym: "CSC" EXACT ABBREVIATION [NCIT:C115124] synonym: "CSCR" EXACT ABBREVIATION [Orphanet:443079] +xref: GARD:200 {source="Orphanet:443079"} xref: ICD10CM:H35.7 {source="Orphanet:443079", source="Orphanet:443079/ntbt"} xref: ICD9:362.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D056833 {source="MONDO:equivalentTo"} @@ -357688,8 +373228,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/200/central- id: MONDO:0018617 name: baroreflex failure def: "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." [https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure] -subset: gard_rare {source="GARD:0010664"} +subset: gard_rare {source="GARD:10664"} subset: ordo_clinical_syndrome {source="Orphanet:443084"} +xref: GARD:10664 {source="Orphanet:443084"} xref: ICD10CM:G90.4 {source="Orphanet:443084", source="Orphanet:443084/ntbt"} xref: Orphanet:443084 {source="MONDO:equivalentTo"} xref: UMLS:CN237655 {source="MONDO:equivalentTo"} @@ -357701,7 +373242,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10664/barore id: MONDO:0018618 name: obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:21848"} subset: ordo_group_of_disorders {source="Orphanet:443090"} +xref: GARD:21848 {source="MONDO:obsoleteEquivalent", source="Orphanet:443090"} xref: Orphanet:443090 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -357719,7 +373262,9 @@ replaced_by: MONDO:0005803 [Term] id: MONDO:0018620 name: hypothalamic adipsic hypernatraemia syndrome +subset: gard_rare {source="GARD:21850"} subset: ordo_disease {source="Orphanet:443101"} +xref: GARD:21850 {source="Orphanet:443101"} xref: ICD10CM:E23.3 {source="Orphanet:443101", source="Orphanet:443101/ntbt"} xref: Orphanet:443101 {source="MONDO:equivalentTo"} xref: UMLS:CN237660 {source="MONDO:equivalentTo"} @@ -357730,8 +373275,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018621 name: lymphoplasmacytic lymphoma without IgM production +subset: gard_rare {source="GARD:21851"} subset: ordo_disease {source="Orphanet:443159"} synonym: "lymphoplasmacytic lymphoma without Immunoglobulin M production" EXACT [Orphanet:443159] +xref: GARD:21851 {source="Orphanet:443159"} xref: ICD10CM:C83.0 {source="Orphanet:443159/ntbt", source="Orphanet:443159"} xref: Orphanet:443159 {source="MONDO:equivalentTo"} is_a: MONDO:0017594 {source="Orphanet:443159"} ! indolent B-cell non-Hodgkin lymphoma @@ -357747,8 +373294,10 @@ id: MONDO:0018623 name: postpartum psychosis alt_id: MONDO:0024269 def: "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." [doi:10.1016/S0140-6736(14)61278-2] +subset: gard_rare {source="GARD:21853"} subset: ordo_disease {source="Orphanet:443173"} synonym: "puerperal psychosis" EXACT [Orphanet:443173] +xref: GARD:21853 {source="Orphanet:443173"} xref: ICD10CM:F53 {source="MONDO:equivalentTo"} xref: ICD10CM:F53.1 {source="Orphanet:443173/ntbt", source="Orphanet:443173"} xref: ICD9:648.44 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -357763,8 +373312,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare [Term] id: MONDO:0018624 name: spontaneous intracranial hypotension +subset: gard_rare {source="GARD:21854"} subset: ordo_disease {source="Orphanet:443180"} synonym: "spontaneous cerebrospinal fluid leak" EXACT [Orphanet:443180] +xref: GARD:21854 {source="Orphanet:443180"} xref: ICD10CM:G96.0 {source="Orphanet:443180", source="Orphanet:443180/e"} xref: Orphanet:443180 {source="MONDO:equivalentTo"} xref: UMLS:C0751731 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:443180"} @@ -357777,8 +373328,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare [Term] id: MONDO:0018625 name: classic stiff person syndrome +subset: gard_rare {source="GARD:17754"} subset: ordo_clinical_subtype {source="Orphanet:443192"} synonym: "classic SPS" EXACT [Orphanet:443192] +xref: GARD:17754 {source="Orphanet:443192"} xref: ICD10CM:G25.8 {source="Orphanet:443192", source="Orphanet:443192/ntbt"} xref: Orphanet:443192 {source="MONDO:equivalentTo"} xref: UMLS:CN237666 {source="MONDO:equivalentTo"} @@ -357789,6 +373342,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0018626 name: paratyphoid fever def: "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." [NCIT:P378] +subset: gard_rare {source="GARD:21855"} subset: ordo_disease {source="Orphanet:443227"} synonym: "paratyphoid" RELATED [DOID:3055] synonym: "paratyphoid a" RELATED [DOID:3055] @@ -357802,6 +373356,7 @@ synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM:002.2, NCIT:C34895] synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM:002.3, NCIT:C34896] xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"} xref: EFO:0007420 {source="MONDO:equivalentTo"} +xref: GARD:21855 {source="Orphanet:443227"} xref: ICD10CM:A01.1 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} xref: ICD10CM:A01.2 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} xref: ICD10CM:A01.3 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} @@ -357838,7 +373393,9 @@ relationship: disease_has_feature HP:0001662 ! Bradycardia id: MONDO:0018627 name: obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: ACTH-independent Cushing syndrome' +subset: gard_rare {source="GARD:21856"} subset: ordo_group_of_disorders {source="Orphanet:443287"} +xref: GARD:21856 {source="Orphanet:443287", source="MONDO:obsoleteEquivalent"} xref: Orphanet:443287 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237670 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -357849,8 +373406,10 @@ consider: MONDO:0020529 [Term] id: MONDO:0018628 name: HIV-associated cancer +subset: gard_rare {source="GARD:21857"} subset: ordo_clinical_situation {source="Orphanet:443291"} synonym: "HIV-related cancer" EXACT [Orphanet:443291] +xref: GARD:21857 {source="Orphanet:443291"} xref: Orphanet:443291 {source="MONDO:equivalentTo"} xref: UMLS:CN237671 {source="MONDO:equivalentTo"} is_a: MONDO:0017341 {source="Orphanet:443291"} ! virus associated tumor @@ -357860,9 +373419,11 @@ intersection_of: disease_has_feature MONDO:0004992 ! cancer [Term] id: MONDO:0018629 name: focal stiff limb syndrome +subset: gard_rare {source="GARD:17756"} subset: ordo_clinical_subtype {source="Orphanet:443804"} synonym: "focal stiff-person syndrome" EXACT [Orphanet:443804] synonym: "Stiff leg syndrome" EXACT [Orphanet:443804] +xref: GARD:17756 {source="Orphanet:443804"} xref: ICD10CM:G25.8 {source="Orphanet:443804", source="Orphanet:443804/ntbt"} xref: Orphanet:443804 {source="MONDO:equivalentTo"} xref: UMLS:CN237672 {source="MONDO:equivalentTo"} @@ -357875,6 +373436,7 @@ name: hereditary nonpolyposis colon cancer def: "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." [Orphanet:443909] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:8533"} subset: ordo_group_of_disorders {source="Orphanet:443909"} synonym: "colorectal cancer, hereditary nonpolyposis" EXACT [OMIMPS:120435] synonym: "familial nonpolyposis colon cancer" EXACT [Orphanet:443909] @@ -357883,6 +373445,7 @@ synonym: "hereditary nonpolyposis colon cancer" EXACT CLINGEN_PREFERRED [NCIT:C1 synonym: "hereditary nonpolyposis colorectal cancer" EXACT [NCIT:C120083, Orphanet:443909] synonym: "Hereditary nonpolyposis colorectal cancer (HNPCC)" EXACT [NCIT:C120083] synonym: "HNPCC" EXACT ABBREVIATION [NCIT:C120083, Orphanet:443909] +xref: GARD:8533 {source="Orphanet:443909"} xref: NCIT:C120083 {source="MONDO:equivalentTo"} xref: OMIMPS:120435 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:443909 {source="MONDO:equivalentTo"} @@ -357902,12 +373465,14 @@ property_value: seeAlso "https://my.clevelandclinic.org/health/diseases/17195-ly id: MONDO:0018631 name: Marie Unna hereditary hypotrichosis def: "A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." [https://orcid.org/0000-0001-5208-3432, Orphanet:444] +subset: gard_rare {source="GARD:3390"} subset: ordo_disease {source="Orphanet:444"} synonym: "HR hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis caused by mutation in HR" EXACT [MONDO:design_pattern] synonym: "hypotrichosis, Marie Unna type" EXACT [Orphanet:444] synonym: "Marie Unna congenital hypotrichosis" EXACT [Orphanet:444] synonym: "MUHH" EXACT ABBREVIATION [Orphanet:444] +xref: GARD:3390 {source="Orphanet:444"} xref: ICD10CM:Q84.0 {source="Orphanet:444", source="Orphanet:444/attributed", source="Orphanet:444/ntbt"} xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"} xref: Orphanet:444 {source="MONDO:equivalentTo"} @@ -357920,11 +373485,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018632 name: 11q22.2q22.3 microdeletion syndrome +subset: gard_rare {source="GARD:21858"} subset: ordo_malformation_syndrome {source="Orphanet:444002"} synonym: "11q22.2-q22.3 deletion syndrome" EXACT [Orphanet:444002] synonym: "Del(11)(q22.2q22.3)" EXACT [Orphanet:444002] synonym: "monosomy 11q22.2-q22.3" EXACT [Orphanet:444002] synonym: "monosomy 11q22.2q22.3" EXACT [Orphanet:444002] +xref: GARD:21858 {source="Orphanet:444002"} xref: ICD10CM:Q93.5 {source="Orphanet:444002", source="Orphanet:444002/attributed", source="Orphanet:444002/ntbt"} xref: Orphanet:444002 {source="MONDO:equivalentTo"} xref: UMLS:CN237678 {source="MONDO:equivalentTo"} @@ -357941,9 +373508,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018633 name: 20q11.2 microdeletion syndrome def: "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." [Orphanet:444051] +subset: gard_rare {source="GARD:21859"} subset: ordo_malformation_syndrome {source="Orphanet:444051"} synonym: "Del(20)(q11.2)" EXACT [Orphanet:444051] synonym: "monosomy 20q11" EXACT [Orphanet:444051] +xref: GARD:21859 {source="Orphanet:444051"} xref: ICD10CM:Q93.5 {source="Orphanet:444051/attributed", source="Orphanet:444051/ntbt", source="Orphanet:444051"} xref: Orphanet:444051 {source="MONDO:equivalentTo"} xref: UMLS:CN237681 {source="MONDO:equivalentTo"} @@ -357960,12 +373529,13 @@ id: MONDO:0018634 name: hereditary amyloidosis def: "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." [https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis] subset: disease_grouping -subset: gard_rare {source="GARD:0006611"} +subset: gard_rare {source="GARD:6611"} subset: ordo_group_of_disorders {source="Orphanet:444116"} synonym: "amyloidosis hereditary" RELATED [GARD:0006611] synonym: "amyloidosis, Familial" EXACT [NCIT:C84555] synonym: "familial amyloidosis" RELATED [GARD:0006611] synonym: "hereditary amyloidosis (disease)" EXACT [MONDO:patterns/hereditary] +xref: GARD:6611 {source="Orphanet:444116"} xref: MESH:D028226 {source="MONDO:equivalentTo"} xref: NCIT:C84555 {source="MONDO:equivalentTo"} xref: Orphanet:444116 {source="MONDO:equivalentTo"} @@ -357980,8 +373550,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6611/heredit [Term] id: MONDO:0018635 name: idiopathic phalangeal acro-osteolysis +subset: gard_rare {source="GARD:21860"} subset: ordo_disease {source="Orphanet:444316"} synonym: "idiopathic phalangeal acroosteolysis" EXACT [Orphanet:444316] +xref: GARD:21860 {source="Orphanet:444316"} xref: ICD10CM:M89.5 {source="Orphanet:444316", source="Orphanet:444316/ntbt"} xref: Orphanet:444316 {source="MONDO:equivalentTo"} is_a: MONDO:0005380 {source="Orphanet:444316"} ! osteonecrosis @@ -357990,12 +373562,14 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0018636 name: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome +subset: gard_rare {source="GARD:17766"} subset: ordo_disease {source="Orphanet:444463"} synonym: "Evans syndrome associated with primary immunodeficiency" EXACT [Orphanet:444463] synonym: "TPPII deficiency" EXACT [Orphanet:444463] synonym: "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease" EXACT [Orphanet:444463] synonym: "triangle disease" EXACT [Orphanet:444463] synonym: "tripeptidyl-peptidase II deficiency" EXACT [Orphanet:444463] +xref: GARD:17766 {source="Orphanet:444463"} xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:444463/attributed", source="Orphanet:444463/ntbt", source="Orphanet:444463"} xref: Orphanet:444463 {source="MONDO:equivalentTo"} xref: UMLS:CN237691 {source="MONDO:equivalentTo"} @@ -358004,8 +373578,10 @@ is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodef [Term] id: MONDO:0018637 name: familial chylomicronemia syndrome +subset: gard_rare {source="GARD:6414"} subset: ordo_disease {source="Orphanet:444490"} xref: DOID:0111417 {source="MONDO:equivalentTo"} +xref: GARD:6414 {source="Orphanet:444490"} xref: ICD10CM:E78.3 {source="Orphanet:444490/inclusion", source="Orphanet:444490", source="Orphanet:444490/ntbt"} xref: Orphanet:444490 {source="MONDO:equivalentTo"} xref: UMLS:CN231410 {source="MONDO:equivalentTo"} @@ -358016,8 +373592,10 @@ id: MONDO:0018638 name: pseudohypoaldosteronism def: "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." [NCIT:C85034] subset: disease_grouping +subset: gard_rare {source="GARD:21861"} subset: ordo_group_of_disorders {source="Orphanet:444916"} xref: DOID:4479 {source="MONDO:equivalentTo"} +xref: GARD:21861 {source="Orphanet:444916"} xref: ICD9:255.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011546 {source="DOID:4479", source="MONDO:equivalentTo"} xref: NCIT:C85034 {source="DOID:4479", source="MONDO:equivalentTo"} @@ -358032,7 +373610,9 @@ id: MONDO:0018639 name: caudal regression-sirenomelia spectrum def: "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." [Orphanet:444941] subset: disease_grouping +subset: gard_rare {source="GARD:21862"} subset: ordo_group_of_disorders {source="Orphanet:444941"} +xref: GARD:21862 {source="Orphanet:444941"} xref: Orphanet:444941 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation @@ -358044,7 +373624,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018640 name: secondary vasculitis subset: disease_grouping +subset: gard_rare {source="GARD:21863"} subset: ordo_group_of_disorders {source="Orphanet:445197"} +xref: GARD:21863 {source="Orphanet:445197"} xref: Orphanet:445197 {source="MONDO:equivalentTo"} is_a: MONDO:0018882 {source="Orphanet:445197"} ! vasculitis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -358060,10 +373642,12 @@ replaced_by: MONDO:0100245 id: MONDO:0018642 name: NIK deficiency def: "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." [doi:10.1038/ncomms6360] +subset: gard_rare {source="GARD:21864"} subset: ordo_disease {source="Orphanet:447731"} synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern] synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731] +xref: GARD:21864 {source="Orphanet:447731"} xref: ICD10CM:D81.8 {source="Orphanet:447731", source="Orphanet:447731/attributed", source="Orphanet:447731/ntbt"} xref: Orphanet:447731 {source="MONDO:equivalentTo"} is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency @@ -358076,8 +373660,10 @@ relationship: disease_has_feature HP:0010976 {source="doi:10.1038/ncomms6360"} ! [Term] id: MONDO:0018643 name: susceptibility to localized juvenile periodontitis +subset: gard_rare {source="GARD:21865"} subset: ordo_disease {source="Orphanet:447740"} subset: predisposition +xref: GARD:21865 {source="Orphanet:447740"} xref: ICD10CM:D71 {source="Orphanet:447740/attributed", source="Orphanet:447740/ntbt", source="Orphanet:447740"} xref: Orphanet:447740 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility @@ -358087,8 +373673,10 @@ relationship: predisposes_towards MONDO:0005076 ! periodontitis [Term] id: MONDO:0018644 name: autosomal dominant complex spastic paraplegia type 9B +subset: gard_rare {source="GARD:21866"} subset: ordo_clinical_subtype {source="Orphanet:447757"} synonym: "AD-SPG9B" EXACT [Orphanet:447757] +xref: GARD:21866 {source="Orphanet:447757"} xref: ICD10CM:G11.4 {source="Orphanet:447757/attributed", source="Orphanet:447757/ntbt", source="Orphanet:447757"} xref: Orphanet:447757 {source="MONDO:equivalentTo"} xref: UMLS:CN237702 {source="MONDO:equivalentTo"} @@ -358098,7 +373686,9 @@ property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyU [Term] id: MONDO:0018645 name: IgG4-related sclerosing cholangitis +subset: gard_rare {source="GARD:21867"} subset: ordo_disease {source="Orphanet:447764"} +xref: GARD:21867 {source="Orphanet:447764"} xref: ICD10CM:K83.0 {source="Orphanet:447764", source="Orphanet:447764/ntbt"} xref: Orphanet:447764 {source="MONDO:equivalentTo"} xref: SCTID:722870008 {source="MONDO:equivalentTo"} @@ -358111,6 +373701,7 @@ id: MONDO:0018646 name: sclerosing cholangitis def: "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:21868"} subset: ordo_group_of_disorders {source="Orphanet:447771"} synonym: "fibrosing cholangitis" EXACT [DOID:14268] synonym: "Primary sclerosing cholangitis" EXACT [NCIT:C4828] @@ -358119,6 +373710,7 @@ synonym: "sclerosing cholangitis" EXACT [MONDO:ambiguous] synonym: "sclerosing cholangitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:14268 {source="EFO:0004268", source="MONDO:equivalentTo"} xref: EFO:0004268 {source="MONDO:equivalentTo", source="DOID:14268"} +xref: GARD:21868 {source="Orphanet:447771"} xref: HP:0030991 {source="MONDO:otherHierarchy"} xref: ICD10CM:K83.0 {source="DOID:14268"} xref: MESH:D015209 {source="EFO:0004268", source="DOID:14268"} @@ -358138,7 +373730,9 @@ property_value: IAO:0000589 "sclerosing cholangitis (disease)" xsd:string [Term] id: MONDO:0018647 name: secondary sclerosing cholangitis +subset: gard_rare {source="GARD:21869"} subset: ordo_disease {source="Orphanet:447774"} +xref: GARD:21869 {source="Orphanet:447774"} xref: ICD10CM:K83.0 {source="Orphanet:447774/ntbt", source="Orphanet:447774"} xref: Orphanet:447774 {source="MONDO:equivalentTo"} xref: SCTID:197442005 {source="MONDO:equivalentTo"} @@ -358149,10 +373743,12 @@ is_a: MONDO:0018646 {source="Orphanet:447774"} ! sclerosing cholangitis id: MONDO:0018648 name: Keratocystic odontogenic tumor def: "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." [NCIT:C54302] +subset: gard_rare {source="GARD:21870"} subset: ordo_disease {source="Orphanet:447777"} synonym: "KTOC" EXACT ABBREVIATION [Orphanet:447777] synonym: "odontogenic Keratocyst" EXACT [NCIT:C54302] synonym: "odontogenic keratocystoma" EXACT [Orphanet:447777] +xref: GARD:21870 {source="Orphanet:447777"} xref: ICD10CM:D16.4 {source="Orphanet:447777/ntbt", source="Orphanet:447777"} xref: NCIT:C54302 {source="MONDO:equivalentTo"} xref: Orphanet:447777 {source="MONDO:equivalentTo"} @@ -358166,8 +373762,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare id: MONDO:0018649 name: obsolete cerebral visual impairment def: "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." [NCIT:C35275] +subset: gard_rare {source="GARD:21871"} subset: ordo_clinical_syndrome {source="Orphanet:447788"} synonym: "cortical visual impairment" EXACT [Orphanet:447788] +xref: GARD:21871 {source="Orphanet:447788", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H47.6 {source="Orphanet:447788/ntbt", source="Orphanet:447788", source="MONDO:directSiblingOf"} xref: NCIT:C35275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447788 {source="MONDO:obsoleteEquivalent"} @@ -358189,7 +373787,9 @@ replaced_by: MONDO:0014225 id: MONDO:0018651 name: obsolete lipoyl transferase 2 deficiency comment: This is a biological anomaly and not a disease. +subset: gard_rare {source="GARD:21872"} subset: ordo_biological_anomaly {source="Orphanet:447795"} +xref: GARD:21872 {source="MONDO:obsoleteEquivalent", source="Orphanet:447795"} xref: Orphanet:447795 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI @@ -358200,7 +373800,9 @@ id: MONDO:0018652 name: obsolete biological anomaly without phenotypic characterization comment: This is a biological anomaly and not a disease. subset: disease_grouping +subset: gard_rare {source="GARD:21873"} subset: ordo_group_of_disorders {source="Orphanet:447874"} +xref: GARD:21873 {source="Orphanet:447874", source="MONDO:obsoleteEquivalent"} xref: Orphanet:447874 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI @@ -358209,9 +373811,11 @@ is_obsolete: true [Term] id: MONDO:0018653 name: Polymerase proofreading-related adenomatous polyposis +subset: gard_rare {source="GARD:17772"} subset: ordo_clinical_subtype {source="Orphanet:447877"} synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "PPAP" EXACT ABBREVIATION [Orphanet:447877] +xref: GARD:17772 {source="Orphanet:447877"} xref: ICD10CM:D12.6 {source="Orphanet:447877", source="Orphanet:447877/attributed", source="Orphanet:447877/ntbt"} xref: NCIT:C162484 {source="MONDO:equivalentTo"} xref: Orphanet:447877 {source="MONDO:equivalentTo"} @@ -358220,8 +373824,10 @@ is_a: MONDO:0016362 {source="Orphanet:447877"} ! attenuated familial adenomatous [Term] id: MONDO:0018654 name: idiopathic dropped head syndrome +subset: gard_rare {source="GARD:21874"} subset: ordo_clinical_syndrome {source="Orphanet:447881"} synonym: "isolated neck extensor myopathy" EXACT [Orphanet:447881] +xref: GARD:21874 {source="Orphanet:447881"} xref: Orphanet:447881 {source="MONDO:equivalentTo"} xref: UMLS:CN237712 {source="MONDO:equivalentTo"} is_a: MONDO:0016105 {source="Orphanet:447881"} ! acquired skeletal muscle disease @@ -358230,7 +373836,9 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0018655 name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome +subset: gard_rare {source="GARD:17773"} subset: ordo_disease {source="Orphanet:447893"} +xref: GARD:17773 {source="Orphanet:447893"} xref: ICD10CM:E75.2 {source="Orphanet:447893/attributed", source="Orphanet:447893/ntbt", source="Orphanet:447893"} xref: Orphanet:447893 {source="MONDO:equivalentTo"} xref: UMLS:CN237713 {source="MONDO:equivalentTo"} @@ -358241,8 +373849,10 @@ property_value: confidence "0.10578651685393292" xsd:double [Term] id: MONDO:0018656 name: tremor-ataxia-central hypomyelination syndrome +subset: gard_rare {source="GARD:17774"} subset: ordo_disease {source="Orphanet:447896"} synonym: "TACH syndrome" EXACT [Orphanet:447896] +xref: GARD:17774 {source="Orphanet:447896"} xref: ICD10CM:E75.2 {source="Orphanet:447896", source="Orphanet:447896/attributed", source="Orphanet:447896/ntbt"} xref: Orphanet:447896 {source="MONDO:equivalentTo"} xref: UMLS:CN237714 {source="MONDO:equivalentTo"} @@ -358254,9 +373864,11 @@ property_value: confidence "0.10578651685393292" xsd:double [Term] id: MONDO:0018657 name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome +subset: gard_rare {source="GARD:17776"} subset: ordo_disease {source="Orphanet:447961"} synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" RELATED [OMIM:618373] synonym: "CAPOK" RELATED ABBREVIATION [OMIM:618373] +xref: GARD:17776 {source="Orphanet:447961"} xref: OMIM:618373 {source="MONDO:equivalentTo"} xref: Orphanet:447961 {source="MONDO:equivalentTo", source="OMIM:618373"} xref: UMLS:C5193062 {source="OMIM:618373"} @@ -358272,8 +373884,10 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:447961"} ! Autosom id: MONDO:0018658 name: 19p13.3 microduplication syndrome def: "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." [Orphanet:447980] +subset: gard_rare {source="GARD:21875"} subset: ordo_malformation_syndrome {source="Orphanet:447980"} synonym: "dup(19)(p13.13)" EXACT [Orphanet:447980] +xref: GARD:21875 {source="Orphanet:447980"} xref: Orphanet:447980 {source="MONDO:equivalentTo"} xref: UMLS:CN237720 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:447980"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -358289,11 +373903,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018659 name: partial duplication of the short arm of chromosome 19 subset: disease_grouping +subset: gard_rare {source="GARD:21876"} subset: ordo_group_of_disorders {source="Orphanet:447985"} synonym: "partial duplication of chromosome 19p" EXACT [Orphanet:447985] synonym: "partial duplication of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:447985] synonym: "partial trisomy of chromosome 19p" EXACT [Orphanet:447985] synonym: "partial trisomy of the short arm of chromosome 19" EXACT [Orphanet:447985] +xref: GARD:21876 {source="Orphanet:447985"} xref: Orphanet:447985 {source="MONDO:equivalentTo"} is_a: MONDO:0016937 {source="Orphanet:447985"} ! partial duplication of chromosome 19 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -358305,8 +373921,10 @@ id: MONDO:0018660 name: hemophilia def: "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." [Orphanet:448] subset: disease_grouping +subset: gard_rare {source="GARD:10418"} subset: ordo_group_of_disorders {source="Orphanet:448"} synonym: "hemophilia" EXACT CLINGEN_PREFERRED [] +xref: GARD:10418 {source="Orphanet:448"} xref: MedDRA:10061992 {source="Orphanet:448", source="Orphanet:448/e"} xref: NCIT:C3093 {source="MONDO:equivalentTo"} xref: Orphanet:448 {source="MONDO:equivalentTo"} @@ -358319,7 +373937,7 @@ relationship: excluded_subClassOf MONDO:0019039 {source="Orphanet:448"} ! obsole id: MONDO:0018661 name: Zika virus infectious disease def: "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." [Orphanet:448237] -subset: gard_rare +subset: gard_rare {source="GARD:12894"} subset: ordo_disease {source="Orphanet:448237"} synonym: "congenital Zika syndrome" NARROW [MESH:D000071243] synonym: "congenital Zika virus infection" NARROW [MESH:D000071243] @@ -358333,6 +373951,7 @@ synonym: "Zika virus infection" EXACT [Orphanet:448237] synonym: "Zika virus infectious disease" EXACT [] synonym: "ZikV infection" EXACT [MESH:D000071243] xref: DOID:0060478 {source="MONDO:equivalentTo"} +xref: GARD:12894 {source="Orphanet:448237"} xref: ICD10CM:A92.5 {source="MONDO:equivalentTo"} xref: ICD10CM:A92.8 {source="GARD:0012894", source="DOID:0060478"} xref: MESH:D000071243 {source="MONDO:equivalentTo", source="DOID:0060478"} @@ -358355,9 +373974,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare id: MONDO:0018662 name: autosomal recessive brachyolmia def: "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." [Orphanet:448242] +subset: gard_rare {source="GARD:13171"} subset: ordo_malformation_syndrome {source="Orphanet:448242"} synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242] +xref: GARD:13171 {source="Orphanet:448242"} xref: ICD10CM:Q76.3 {source="Orphanet:448242/attributed", source="Orphanet:448242/ntbt", source="Orphanet:448242"} xref: Orphanet:448242 {source="MONDO:equivalentTo"} xref: UMLS:CN237725 {source="MONDO:equivalentTo"} @@ -358368,9 +373989,11 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance [Term] id: MONDO:0018663 name: regressive spondylometaphyseal dysplasia +subset: gard_rare {source="GARD:17782"} subset: ordo_malformation_syndrome {source="Orphanet:448267"} synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019, OMIM:genemap2] synonym: "regressive spondylometaphyseal dysplasia" EXACT CLINGEN_PREFERRED [] +xref: GARD:17782 {source="Orphanet:448267"} xref: ICD10CM:Q77.8 {source="Orphanet:448267/attributed", source="Orphanet:448267/ntbt", source="Orphanet:448267"} xref: OMIM:618019 {source="MONDO:equivalentTo"} xref: Orphanet:448267 {source="MONDO:equivalentTo"} @@ -358382,9 +374005,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018664 name: ectopia cordis def: "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." [NCIT:C111643] +subset: gard_rare {source="GARD:21877"} subset: ordo_morphological_anomaly {source="Orphanet:448270"} synonym: "ectopia cordis" EXACT [MONDO:ambiguous] synonym: "ectopia cordis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:21877 {source="Orphanet:448270"} xref: HP:0001683 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.8 {source="Orphanet:448270/ntbt", source="Orphanet:448270"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -358415,6 +374040,7 @@ consider: MONDO:0010491 id: MONDO:0018666 name: hepatoblastoma def: "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy." [Orphanet:449] +subset: gard_rare {source="GARD:2657"} subset: ordo_disease {source="Orphanet:449"} synonym: "HBL" EXACT ABBREVIATION [DOID:687, NCIT:C3728] synonym: "hepatoblastoma" EXACT [NCIT:C3728] @@ -358425,6 +374051,7 @@ synonym: "pediatric embryonal hepatoma" EXACT [NCIT:C3728] synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728] xref: DOID:687 {source="MONDO:equivalentTo"} xref: EFO:1000292 {source="MONDO:equivalentTo"} +xref: GARD:2657 {source="Orphanet:449"} xref: ICD10CM:C22.2 {source="DOID:687", source="Orphanet:449", source="Orphanet:449/e"} xref: ICDO:8970/3 {source="NCIT:C3728"} xref: MedDRA:10062001 {source="Orphanet:449", source="Orphanet:449/e"} @@ -358443,6 +374070,7 @@ property_value: confidence "2.6111111111111107" xsd:double id: MONDO:0018667 name: pleural empyema def: "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." [NCIT:P378] +subset: gard_rare {source="GARD:21879"} subset: ordo_clinical_situation {source="Orphanet:449266"} synonym: "abscess of pleural cavity" EXACT [DOID:3798] synonym: "abscess of thorax" RELATED [DOID:3798] @@ -358455,6 +374083,7 @@ synonym: "purulent pleuritis" RELATED [DOID:3798] synonym: "pyothorax" RELATED [DOID:3798] synonym: "thorax abscess" RELATED [DOID:3798] xref: DOID:3798 {source="MONDO:equivalentTo"} +xref: GARD:21879 {source="Orphanet:449266"} xref: HP:0011919 {source="MONDO:otherHierarchy"} xref: ICD10CM:J86 {source="DOID:3798"} xref: ICD10CM:J86.9 {source="DOID:3798"} @@ -358484,7 +374113,9 @@ property_value: IAO:0000589 "pleural empyema (disease)" xsd:string [Term] id: MONDO:0018668 name: scedosporiosis +subset: gard_rare {source="GARD:21880"} subset: ordo_disease {source="Orphanet:449280"} +xref: GARD:21880 {source="Orphanet:449280"} xref: MESH:C000656924 {source="MONDO:equivalentTo"} xref: Orphanet:449280 {source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="Orphanet:449280"} ! fungal infectious disease @@ -358493,6 +374124,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare [Term] id: MONDO:0018669 name: snakebite envenomation +subset: gard_rare {source="GARD:21881"} subset: ordo_clinical_situation {source="Orphanet:449285"} synonym: "poisoning by venomous snake" EXACT [] synonym: "poisoning caused by venomous snake" RELATED [] @@ -358500,6 +374132,7 @@ synonym: "snake bite poisoning" RELATED [] synonym: "snake venom causing toxic effect" RELATED [] synonym: "snake venom poisoning" RELATED [] synonym: "toxic effect of bite of venomous snake" RELATED [] +xref: GARD:21881 {source="Orphanet:449285"} xref: ICD10CM:T63.0 {source="Orphanet:449285", source="Orphanet:449285/e"} xref: Orphanet:449285 {source="MONDO:equivalentTo"} xref: SCTID:61288004 {source="MONDO:equivalentTo"} @@ -358510,7 +374143,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare [Term] id: MONDO:0018670 name: symptomatic form of fragile X syndrome in female carrier +subset: gard_rare {source="GARD:17783"} subset: ordo_disease {source="Orphanet:449291"} +xref: GARD:17783 {source="Orphanet:449291"} xref: ICD10CM:Q99.2 {source="Orphanet:449291", source="Orphanet:449291/attributed", source="Orphanet:449291/ntbt"} xref: Orphanet:449291 {source="MONDO:equivalentTo"} xref: UMLS:CN237736 {source="MONDO:equivalentTo"} @@ -358521,7 +374156,9 @@ property_value: confidence "2.3760683760683765" xsd:double [Term] id: MONDO:0018671 name: IgG4-related kidney disease +subset: gard_rare {source="GARD:21882"} subset: ordo_disease {source="Orphanet:449395"} +xref: GARD:21882 {source="Orphanet:449395"} xref: ICD10CM:N11.8 {source="Orphanet:449395", source="Orphanet:449395/ntbt"} xref: Orphanet:449395 {source="MONDO:equivalentTo"} xref: UMLS:CN237737 {source="MONDO:equivalentTo"} @@ -358532,8 +374169,10 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:449395"} ! obs [Term] id: MONDO:0018672 name: IgG4-related aortitis +subset: gard_rare {source="GARD:21883"} subset: ordo_disease {source="Orphanet:449400"} synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400] +xref: GARD:21883 {source="Orphanet:449400"} xref: ICD10CM:I77.6 {source="Orphanet:449400/ntbt", source="Orphanet:449400"} xref: Orphanet:449400 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449400"} ! IgG4-related disease @@ -358543,12 +374182,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare id: MONDO:0018673 name: IgG4-related pachymeningitis def: "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." [GARD:0013256] -subset: gard_rare +subset: gard_rare {source="GARD:13256"} subset: ordo_disease {source="Orphanet:449427"} synonym: "idiopathic hypertrophic cranial pachymeningitis" RELATED [GARD:0013256] synonym: "idiopathic hypertrophic craniospinal pachymeningitis" RELATED [GARD:0013256] synonym: "idiopathic hypertrophic pachymeningitis" EXACT [Orphanet:449427] synonym: "idiopathic hypertrophic spinal pachymeningitis" RELATED [GARD:0013256] +xref: GARD:13256 {source="Orphanet:449427"} xref: ICD10CM:G03.9 {source="Orphanet:449427/ntbt", source="Orphanet:449427"} xref: Orphanet:449427 {source="MONDO:equivalentTo"} xref: SCTID:762282007 {source="MONDO:equivalentTo"} @@ -358562,6 +374202,7 @@ id: MONDO:0018674 name: IgG4-related submandibular gland disease def: "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones." [NCIT:C82887] comment: Editor note: check this. Unification based on Kuttner tumor synonym +subset: gard_rare {source="GARD:21884"} subset: ordo_disease {source="Orphanet:449432"} synonym: "chronic sclerosing sialadenitis" EXACT [NCIT:C82887] synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432] @@ -358571,6 +374212,7 @@ synonym: "Kuttner's tumor" EXACT [NCIT:C82887] synonym: "Kuttner's tumour" EXACT OMO:0003005 [] synonym: "Küttner tumor" EXACT [Orphanet:449432] synonym: "Küttner tumour" EXACT OMO:0003005 [] +xref: GARD:21884 {source="Orphanet:449432"} xref: ICD10CM:K11.2 {source="Orphanet:449432/ntbt", source="Orphanet:449432"} xref: NCIT:C82887 {source="MONDO:equivalentTo"} xref: Orphanet:449432 {source="MONDO:equivalentTo"} @@ -358583,9 +374225,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare id: MONDO:0018675 name: IgG4-related ophthalmic disorder def: "A IgG4-related disease that involves the eye." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21885"} subset: ordo_disease {source="Orphanet:449563"} synonym: "eye IgG4-related disease" EXACT [MONDO:patterns/location] synonym: "IgG4-related disease of eye" EXACT [] +xref: GARD:21885 {source="Orphanet:449563"} xref: ICD10CM:H05.1 {source="Orphanet:449563", source="Orphanet:449563/ntbt"} xref: Orphanet:449563 {source="MONDO:equivalentTo"} xref: UMLS:CN237741 {source="MONDO:equivalentTo"} @@ -358597,12 +374241,13 @@ intersection_of: disease_has_location UBERON:0000970 ! eye [Term] id: MONDO:0018676 name: eosinophilic angiocentric fibrosis -subset: gard_rare +subset: gard_rare {source="GARD:21886"} subset: ordo_disease {source="Orphanet:449566"} synonym: "EAF" RELATED ABBREVIATION [GARD:0002032] synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032] synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:449566] synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032] +xref: GARD:21886 {source="Orphanet:449566"} xref: ICD10CM:J39.8 {source="Orphanet:449566/ntbt", source="Orphanet:449566"} xref: Orphanet:449566 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449566"} ! IgG4-related disease @@ -358616,6 +374261,7 @@ name: visceral heterotaxy def: "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." [NCIT:C117273] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:20013", source="GARD:10875"} subset: ordo_group_of_disorders {source="Orphanet:450"} subset: ordo_morphological_anomaly {source="Orphanet:157769"} synonym: "heterotaxia" EXACT [DOID:0050545] @@ -358630,6 +374276,8 @@ synonym: "situs ambiguus" EXACT [DOID:0050545, MONDO:0015522] synonym: "visceral heterotaxy" EXACT [Orphanet:450] xref: DOID:0050545 {source="MONDO:equivalentTo"} xref: EFO:0009081 {source="MONDO:equivalentTo"} +xref: GARD:10875 {source="Orphanet:450"} +xref: GARD:20013 {source="Orphanet:157769"} xref: ICD10CM:Q89.3 {source="Orphanet:157769", source="Orphanet:450/nd", source="Orphanet:450", source="Orphanet:157769/attributed", source="Orphanet:157769/ntbt"} xref: MedDRA:10059119 {source="Orphanet:157769", source="Orphanet:157769/e"} xref: MedDRA:10067265 {source="Orphanet:450/e", source="Orphanet:450"} @@ -358650,7 +374298,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018678 name: polyclonal hyperviscosity syndrome +subset: gard_rare {source="GARD:21887"} subset: ordo_clinical_syndrome {source="Orphanet:450322"} +xref: GARD:21887 {source="Orphanet:450322"} xref: ICD10CM:D89.0 {source="MONDO:relatedTo", source="Orphanet:450322", source="Orphanet:450322/ntbt"} xref: Orphanet:450322 {source="MONDO:equivalentTo"} xref: UMLS:CN237743 {source="MONDO:equivalentTo"} @@ -358659,7 +374309,9 @@ is_a: MONDO:0005570 {source="Orphanet:450322"} ! hematologic disorder [Term] id: MONDO:0018679 name: primary cutaneous plasmacytosis +subset: gard_rare {source="GARD:21888"} subset: ordo_disease {source="Orphanet:451602"} +xref: GARD:21888 {source="Orphanet:451602"} xref: ICD10CM:L98.6 {source="Orphanet:451602/ntbt", source="Orphanet:451602"} xref: Orphanet:451602 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -358669,10 +374321,12 @@ is_a: MONDO:0017287 {source="Orphanet:451602"} ! IgG4-related disease id: MONDO:0018680 name: cutaneous pseudolymphoma def: "A pseudolymphoma of the skin." [NCIT:C62776] +subset: gard_rare {source="GARD:21889"} subset: ordo_disease {source="Orphanet:451607"} synonym: "lymphadenosis Benigna cutis" EXACT [NCIT:C62776] synonym: "lymphocytoma cutis" EXACT [NCIT:C62776] synonym: "pseudolymphoma of Spiegler" EXACT [NCIT:C62776] +xref: GARD:21889 {source="Orphanet:451607"} xref: ICD10CM:L98.6 {source="Orphanet:451607/ntbt", source="Orphanet:451607"} xref: NCIT:C62776 {source="MONDO:equivalentTo"} xref: Orphanet:451607 {source="MONDO:equivalentTo"} @@ -358685,8 +374339,10 @@ is_a: MONDO:0017287 {source="Orphanet:451607"} ! IgG4-related disease id: MONDO:0018681 name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome subset: clingen +subset: gard_rare {source="GARD:17785"} subset: ordo_malformation_syndrome {source="Orphanet:453499"} synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" EXACT CLINGEN_PREFERRED [] +xref: GARD:17785 {source="Orphanet:453499"} xref: Orphanet:453499 {source="MONDO:equivalentTo"} xref: UMLS:CN237747 {source="MONDO:equivalentTo"} is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder @@ -358702,11 +374358,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018682 name: congenital insensitivity to pain with severe intellectual disability +subset: gard_rare {source="GARD:21890"} subset: ordo_disease {source="Orphanet:453510"} synonym: "congenital absence of pain with severe intellectual disability" EXACT [Orphanet:453510] synonym: "congenital analgesia with severe intellectual disability" EXACT [Orphanet:453510] synonym: "congenital insensitivity to pain with preserved temperature sensation" EXACT [Orphanet:453510] synonym: "congenital insensitivity to pain with severe non-progressive cognitive delay" EXACT [Orphanet:453510] +xref: GARD:21890 {source="Orphanet:453510"} xref: Orphanet:453510 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-4142-7153"} ! nervous system disorder @@ -358721,13 +374379,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018683 name: acquired ichthyosis def: "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." [PMID:20643494] -subset: gard_rare {source="GARD:0000476"} +subset: gard_rare {source="GARD:476"} subset: ordo_disease {source="Orphanet:454"} synonym: "acquired ichthyosis" EXACT [NCIT:C112831] synonym: "acquired ichthyosis (disease)" EXACT [MONDO:patterns/acquired] synonym: "fish scale disease, acquired" RELATED [GARD:0000476] synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831] synonym: "ichthyosis, acquired" RELATED [GARD:0000476] +xref: GARD:476 {source="Orphanet:454"} xref: ICD10CM:L85.0 {source="Orphanet:454/e", source="MONDO:equivalentTo", source="Orphanet:454"} xref: MESH:C538175 {source="MONDO:equivalentTo"} xref: NCIT:C112831 {source="MONDO:equivalentTo"} @@ -358745,8 +374404,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/476/ichthyos id: MONDO:0018684 name: idiopathic neonatal atrial flutter def: "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." [Orphanet:45452] +subset: gard_rare {source="GARD:18831"} subset: ordo_disease {source="Orphanet:45452"} synonym: "neonatal cardiac dysrhythmia" EXACT [ICD10CM:P29.1] +xref: GARD:18831 {source="Orphanet:45452"} xref: ICD10CM:P29.1 {source="MONDO:equivalentTo", source="Orphanet:45452/ntbt", source="Orphanet:45452"} xref: Orphanet:45452 {source="MONDO:equivalentTo"} xref: SCTID:715560009 {source="MONDO:equivalentTo"} @@ -358760,7 +374421,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018685 name: incessant infant ventricular tachycardia def: "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." [Orphanet:45453] +subset: gard_rare {source="GARD:18832"} subset: ordo_disease {source="Orphanet:45453"} +xref: GARD:18832 {source="Orphanet:45453"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="Orphanet:45453/ntbt", source="Orphanet:45453"} xref: Orphanet:45453 {source="MONDO:equivalentTo"} xref: SCTID:233908008 {source="MONDO:equivalentTo"} @@ -358773,10 +374436,12 @@ id: MONDO:0018686 name: acquired Creutzfeldt-Jakob disease alt_id: MONDO:0025169 def: "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:17788"} subset: ordo_disease {source="Orphanet:454700"} synonym: "acquired CJD" EXACT [MESH:C538481] synonym: "acquired Creutzfeldt Jacob disease" EXACT [MONDO:patterns/acquired] synonym: "sporadic CJD" RELATED [MESH:C538481] +xref: GARD:17788 {source="Orphanet:454700"} xref: ICD10CM:A81.0 {source="Orphanet:454700", source="Orphanet:454700/ntbt"} xref: MESH:C538481 {source="MONDO:equivalentTo"} xref: Orphanet:454700 {source="MONDO:equivalentTo"} @@ -358790,12 +374455,14 @@ relationship: excluded_subClassOf MONDO:0025149 {source="MESH:C538481"} ! enceph id: MONDO:0018687 name: progressive muscular atrophy def: "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." [NCIT:P378] +subset: gard_rare {source="GARD:21891"} subset: ordo_disease {source="Orphanet:454706"} synonym: "PMA" EXACT ABBREVIATION [Orphanet:454706] synonym: "progressive spinal muscular atrophy" EXACT [DOID:318] synonym: "pure progressive muscular atrophy" RELATED [DOID:318] xref: DOID:318 {source="MONDO:equivalentTo"} xref: EFO:0008864 {source="MONDO:equivalentTo"} +xref: GARD:21891 {source="Orphanet:454706"} xref: ICD10CM:G12.2 {source="Orphanet:454706/ntbt", source="Orphanet:454706"} xref: ICD10CM:G12.21 {source="DOID:318"} xref: ICD9:335.21 {source="DOID:318", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -358813,8 +374480,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare [Term] id: MONDO:0018688 name: anti-p200 pemphigoid +subset: gard_rare {source="GARD:21892"} subset: ordo_disease {source="Orphanet:454710"} xref: EFO:0008597 {source="MONDO:equivalentTo"} +xref: GARD:21892 {source="Orphanet:454710"} xref: ICD10CM:L12.8 {source="Orphanet:454710/ntbt", source="Orphanet:454710"} xref: Orphanet:454710 {source="MONDO:equivalentTo"} xref: UMLS:CN237754 {source="MONDO:equivalentTo"} @@ -358824,7 +374493,7 @@ is_a: MONDO:0019337 {source="EFO:0008597/inferred", source="Orphanet:454710"} ! id: MONDO:0018689 name: plasma cell leukemia def: "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [NCIT:C3180] -subset: gard_rare {source="GARD:0009373"} +subset: gard_rare {source="GARD:9373"} subset: ordo_disease {source="Orphanet:454714"} synonym: "leukaemia plasmacytic" EXACT OMO:0003005 [] synonym: "leukemia plasmacytic" EXACT [NCIT:C3180] @@ -358835,6 +374504,7 @@ synonym: "plasmacytic leukaemia" EXACT OMO:0003005 [] synonym: "plasmacytic leukemia" EXACT [NCIT:C3180] xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"} xref: EFO:0006475 {source="MONDO:equivalentTo"} +xref: GARD:9373 {source="Orphanet:454714"} xref: ICD10CM:C90.1 {source="DOID:9513", source="Orphanet:454714", source="Orphanet:454714/e"} xref: ICD10CM:C90.10 {source="DOID:9513"} xref: ICD9:203.1 {source="DOID:9513", source="EFO:0006475"} @@ -358861,6 +374531,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9373/plasma- id: MONDO:0018690 name: Holmes-Adie syndrome def: "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." [NCIT:C34357] +subset: gard_rare {source="GARD:5749"} subset: ordo_disease {source="Orphanet:454718"} synonym: "Adie pupil" EXACT [OMIM:103100] synonym: "Adie syndrome" EXACT [MONDO:0007069, OMIM:103100, Orphanet:454718] @@ -358875,6 +374546,7 @@ synonym: "tonic pupil-tendon areflexia syndrome" EXACT [Orphanet:454718] synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" RELATED [GARD:0005749] xref: DOID:11549 {source="EFO:0004126", source="MONDO:equivalentTo"} xref: EFO:0004126 {source="MONDO:equivalentTo"} +xref: GARD:5749 {source="Orphanet:454718"} xref: ICD10CM:H57.0 {source="Orphanet:454718/ntbt", source="Orphanet:454718"} xref: MESH:D000270 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo"} xref: MESH:D015845 {source="EFO:0004126"} @@ -358896,7 +374568,9 @@ replaced_by: MONDO:0006335 [Term] id: MONDO:0018692 name: variably protease-sensitive prionopathy +subset: gard_rare {source="GARD:21894"} subset: ordo_disease {source="Orphanet:454742"} +xref: GARD:21894 {source="Orphanet:454742"} xref: ICD10CM:A81.8 {source="Orphanet:454742/ntbt", source="Orphanet:454742"} xref: Orphanet:454742 {source="MONDO:equivalentTo"} xref: SCTID:721165001 {source="MONDO:equivalentTo"} @@ -358916,11 +374590,13 @@ replaced_by: MONDO:0006825 id: MONDO:0018694 name: isolated tracheo-esophageal fistula def: "A congenital or acquired abnormal communication between the trachea and the esophagus." [NCIT:C35080] +subset: gard_rare {source="GARD:21895"} subset: ordo_morphological_anomaly {source="Orphanet:454750"} synonym: "H-type tracheoesophageal fistula" EXACT [Orphanet:454750] synonym: "isolated tracheoesophageal fistula" RELATED [Orphanet:454750] synonym: "tracheo-esophageal fistula" EXACT [NCIT:C35080] synonym: "tracheoesophageal fistula" EXACT [NCIT:C35080] +xref: GARD:21895 {source="Orphanet:454750"} xref: ICD10CM:Q39.2 {source="Orphanet:454750", source="Orphanet:454750/e"} xref: NCIT:C35080 {source="MONDO:equivalentTo"} xref: Orphanet:454750 {source="MONDO:equivalentTo"} @@ -358932,11 +374608,13 @@ is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophagea id: MONDO:0018695 name: avian influenza def: "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." [MESH:D005585] +subset: gard_rare {source="GARD:21897"} subset: ordo_disease {source="Orphanet:454836"} synonym: "avian flu" EXACT [DOID:4492] synonym: "bird flu" EXACT [DOID:4492] xref: DOID:4492 {source="EFO:0005222", source="MONDO:equivalentTo"} xref: EFO:0005222 {source="MONDO:equivalentTo"} +xref: GARD:21897 {source="Orphanet:454836"} xref: ICD10CM:J09 {source="Orphanet:454836/ntbt", source="Orphanet:454836"} xref: ICD10CM:J09.X {source="DOID:4492"} xref: MESH:D005585 {source="MONDO:equivalentTo", source="DOID:4492"} @@ -358956,7 +374634,9 @@ relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:454836"} ! res id: MONDO:0018696 name: corticobasal syndrome def: "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." [Orphanet:454887] +subset: gard_rare {source="GARD:13168"} subset: ordo_disease {source="Orphanet:454887"} +xref: GARD:13168 {source="Orphanet:454887"} xref: ICD10CM:G31.0 {source="Orphanet:454887", source="Orphanet:454887/attributed", source="Orphanet:454887/ntbt"} xref: Orphanet:454887 {source="MONDO:equivalentTo"} xref: UMLS:CN237765 {source="MONDO:equivalentTo"} @@ -358971,10 +374651,12 @@ relationship: has_characteristic MONDO:0021136 ! rare [Term] id: MONDO:0018697 name: 1p35.2 microdeletion syndrome +subset: gard_rare {source="GARD:21898"} subset: ordo_malformation_syndrome {source="Orphanet:456298"} synonym: "Del(1)(p35.2)" EXACT [Orphanet:456298] synonym: "deletion 1p35.2" EXACT [Orphanet:456298] synonym: "monosomy 1p35.2" EXACT [Orphanet:456298] +xref: GARD:21898 {source="Orphanet:456298"} xref: ICD10CM:Q93.5 {source="Orphanet:456298/attributed", source="Orphanet:456298/ntbt", source="Orphanet:456298"} xref: Orphanet:456298 {source="MONDO:equivalentTo"} xref: UMLS:CN237766 {source="MONDO:equivalentTo"} @@ -358988,12 +374670,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018698 name: hereditary neuroendocrine tumor of small intestine def: "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21899"} subset: ordo_disease {source="Orphanet:456333"} synonym: "hereditary neuroendocrine tumor of small bowel" EXACT [Orphanet:456333] synonym: "hereditary neuroendocrine tumor of the small intestine" EXACT [MONDO:patterns/hereditary] synonym: "hereditary neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] synonym: "hereditary neuroendocrine tumour of the small intestine" EXACT OMO:0003005 [] synonym: "hereditary small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] +xref: GARD:21899 {source="Orphanet:456333"} xref: Orphanet:456333 {source="MONDO:equivalentTo"} xref: UMLS:CN237770 {source="MONDO:equivalentTo"} xref: UMLS:CN847586 {source="MONDO:equivalentTo"} @@ -359006,7 +374690,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018699 name: obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy subset: disease_grouping +subset: gard_rare {source="GARD:5770"} subset: ordo_group_of_disorders {source="Orphanet:457059"} +xref: GARD:5770 {source="Orphanet:457059", source="MONDO:obsoleteEquivalent"} xref: Orphanet:457059 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -359014,13 +374700,17 @@ is_obsolete: true id: MONDO:0018700 name: obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy subset: disease_grouping +subset: gard_rare {source="GARD:21900"} subset: ordo_group_of_disorders {source="Orphanet:457062"} +xref: GARD:21900 {source="MONDO:obsoleteEquivalent", source="Orphanet:457062"} xref: Orphanet:457062 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0018701 name: obsolete congenital nemaline myopathy +subset: gard_rare {source="GARD:21901"} +xref: GARD:21901 {source="MONDO:obsoleteEquivalent", source="Orphanet:457074"} xref: Orphanet:457074 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359032,9 +374722,11 @@ is_obsolete: true id: MONDO:0018702 name: Castleman-Kojima disease def: "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" [PMID:23801135] +subset: gard_rare {source="GARD:21902"} subset: ordo_disease {source="Orphanet:457077"} synonym: "TAFRO syndrome" EXACT [PMID:23801135] synonym: "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome" EXACT [Orphanet:457077] +xref: GARD:21902 {source="Orphanet:457077"} xref: ICD10CM:M35.8 {source="Orphanet:457077/ntbt", source="Orphanet:457077"} xref: Orphanet:457077 {source="MONDO:equivalentTo"} xref: UMLS:CN237773 {source="MONDO:equivalentTo"} @@ -359048,8 +374740,10 @@ relationship: disease_has_feature HP:0012211 {source="PMID:23801135"} ! Abnormal [Term] id: MONDO:0018703 name: isolated splenogonadal fusion +subset: gard_rare {source="GARD:21903"} subset: ordo_morphological_anomaly {source="Orphanet:457083"} synonym: "SGF" EXACT ABBREVIATION [Orphanet:457083] +xref: GARD:21903 {source="Orphanet:457083"} xref: ICD10CM:Q89.0 {source="Orphanet:457083", source="Orphanet:457083/ntbt"} xref: Orphanet:457083 {source="MONDO:equivalentTo"} xref: UMLS:CN242095 {source="MONDO:equivalentTo"} @@ -359065,9 +374759,11 @@ replaced_by: MONDO:0005631 [Term] id: MONDO:0018705 name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome +subset: gard_rare {source="GARD:21904"} subset: ordo_disease {source="Orphanet:457205"} synonym: "ANOAC" EXACT ABBREVIATION [Orphanet:457205] synonym: "axonal neuropathy-optic atrophy-cognitive deficit syndrome" EXACT [Orphanet:457205] +xref: GARD:21904 {source="Orphanet:457205"} xref: Orphanet:457205 {source="MONDO:equivalentTo"} xref: UMLS:CN242083 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457205"} ! inherited neurodegenerative disorder @@ -359079,9 +374775,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018706 name: syndromic sensorineural deafness due to combined oxidative phosphorylation defect +subset: gard_rare {source="GARD:17799"} subset: ordo_disease {source="Orphanet:457223"} synonym: "syndromic sensorineural deafness due to COXPD" EXACT [Orphanet:457223] synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [Orphanet:457223] +xref: GARD:17799 {source="Orphanet:457223"} xref: ICD10CM:G31.8 {source="Orphanet:457223/attributed", source="Orphanet:457223/ntbt", source="Orphanet:457223"} xref: Orphanet:457223 {source="MONDO:equivalentTo"} xref: UMLS:CN242144 {source="MONDO:equivalentTo"} @@ -359114,7 +374812,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017371"} ! rare [Term] id: MONDO:0018709 name: X-linked intellectual disability-hypotonia-movement disorder syndrome +subset: gard_rare {source="GARD:12715"} subset: ordo_disease {source="Orphanet:457260"} +xref: GARD:12715 {source="Orphanet:457260"} xref: Orphanet:457260 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:457260", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: confidence "5.6923076923076925" xsd:double @@ -359123,7 +374823,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018710 name: megalencephaly-severe kyphoscoliosis-overgrowth syndrome +subset: gard_rare {source="GARD:17805"} subset: ordo_malformation_syndrome {source="Orphanet:457359"} +xref: GARD:17805 {source="Orphanet:457359"} xref: Orphanet:457359 {source="MONDO:equivalentTo"} is_a: MONDO:0014863 ! macrocephaly, dysmorphic facies, and psychomotor retardation is_a: MONDO:0015159 {source="Orphanet:457359"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -359136,7 +374838,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018711 name: intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome +subset: gard_rare {source="GARD:21906"} subset: ordo_malformation_syndrome {source="Orphanet:457365"} +xref: GARD:21906 {source="Orphanet:457365"} xref: Orphanet:457365 {source="MONDO:equivalentTo"} xref: UMLS:CN242088 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:457365"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -359148,8 +374852,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018712 name: composite hemangioendothelioma def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." [NCIT:P378] +subset: gard_rare {source="GARD:21907"} subset: ordo_disease {source="Orphanet:458758"} synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475] +xref: GARD:21907 {source="Orphanet:458758"} xref: ICD10CM:D18.0 {source="Orphanet:458758/ntbt", source="Orphanet:458758"} xref: NCIT:C45475 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:458758 {source="MONDO:equivalentTo"} @@ -359164,9 +374870,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare id: MONDO:0018713 name: retiform hemangioendothelioma def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." [NCIT:P378] +subset: gard_rare {source="GARD:21908"} subset: ordo_disease {source="Orphanet:458763"} synonym: "hobnail hemangioendothelioma" EXACT [NCIT:C27511] synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511] +xref: GARD:21908 {source="Orphanet:458763"} xref: ICD10CM:D18.0 {source="Orphanet:458763/ntbt", source="Orphanet:458763"} xref: NCIT:C27511 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:458763 {source="MONDO:equivalentTo"} @@ -359181,6 +374889,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare id: MONDO:0018714 name: primary intralymphatic angioendothelioma def: "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." [NCIT:P378] +subset: gard_rare {source="GARD:21909"} subset: ordo_disease {source="Orphanet:458768"} synonym: "Dabska tumor" EXACT [NCIT:C7526, Orphanet:458768] synonym: "Dabska tumour" EXACT OMO:0003005 [] @@ -359188,6 +374897,7 @@ synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526] synonym: "pila" EXACT [NCIT:C7526] +xref: GARD:21909 {source="Orphanet:458768"} xref: ICD10CM:D18.0 {source="Orphanet:458768/ntbt", source="Orphanet:458768"} xref: ICDO:9135/1 {source="NCIT:C7526"} xref: NCIT:C7526 {source="MONDO:equivalentTo"} @@ -359204,9 +374914,11 @@ name: congenital hemangioma def: "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, NCIT:C3841] comment: Editor note: this is distinct from inflantile hemangioma subset: disease_grouping +subset: gard_rare {source="GARD:21910"} subset: ordo_group_of_disorders {source="Orphanet:458775"} synonym: "congenital angioma" RELATED [NCIT:C3841] synonym: "congenital hemangioma" EXACT [NCIT:C3841] +xref: GARD:21910 {source="Orphanet:458775"} xref: NCIT:C3841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:458775 {source="MONDO:equivalentTo"} xref: SCTID:32361000119104 {source="MONDO:equivalentTo"} @@ -359220,8 +374932,10 @@ relationship: has_characteristic MONDO:0021140 ! congenital id: MONDO:0018716 name: partially involuting congenital hemangioma def: "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" [https://doi.org/10.1016/j.jaad.2013.09.018] +subset: gard_rare {source="GARD:21911"} subset: ordo_disease {source="Orphanet:458785"} synonym: "PICH" EXACT ABBREVIATION [https://doi.org/10.1016/j.jaad.2013.09.018] +xref: GARD:21911 {source="Orphanet:458785"} xref: ICD10CM:D18.0 {source="Orphanet:458785/ntbt", source="Orphanet:458785"} xref: NCIT:C172209 {source="MONDO:equivalentTo"} xref: Orphanet:458785 {source="MONDO:equivalentTo"} @@ -359230,8 +374944,10 @@ is_a: MONDO:0018715 {source="Orphanet:458785"} ! congenital hemangioma [Term] id: MONDO:0018717 name: mixed cystic lymphatic malformation +subset: gard_rare {source="GARD:21912"} subset: ordo_malformation_syndrome {source="Orphanet:458792"} synonym: "mixed cystic lymphangioma" EXACT [Orphanet:458792] +xref: GARD:21912 {source="Orphanet:458792"} xref: ICD10CM:D18.1 {source="Orphanet:458792", source="Orphanet:458792/ntbt"} xref: Orphanet:458792 {source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma @@ -359243,7 +374959,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018718 name: obsolete vascular tumor with associated anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular neoplasm' +subset: gard_rare {source="GARD:21913"} subset: ordo_group_of_disorders {source="Orphanet:458827"} +xref: GARD:21913 {source="MONDO:obsoleteEquivalent", source="Orphanet:458827"} xref: Orphanet:458827 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242155 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359255,6 +374973,8 @@ consider: MONDO:0024296 id: MONDO:0018719 name: obsolete obsolete rare capillary malformation with associated anomalies comment: A grouping term that is probably not used clinically. +subset: gard_rare {source="GARD:21914"} +xref: GARD:21914 {source="Orphanet:458830", source="MONDO:obsoleteEquivalent"} xref: Orphanet:458830 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242066 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359267,6 +374987,8 @@ consider: MONDO:0016231 [Term] id: MONDO:0018720 name: obsolete common cystic lymphatic malformation +subset: gard_rare {source="GARD:21915"} +xref: GARD:21915 {source="Orphanet:458833", source="MONDO:obsoleteEquivalent"} xref: Orphanet:458833 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359279,7 +375001,9 @@ is_obsolete: true id: MONDO:0018721 name: obsolete rare combined vascular malformation subset: disease_grouping +subset: gard_rare {source="GARD:21916"} subset: ordo_group_of_disorders {source="Orphanet:458837"} +xref: GARD:21916 {source="MONDO:obsoleteEquivalent", source="Orphanet:458837"} xref: Orphanet:458837 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242069 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359299,7 +375023,9 @@ is_obsolete: true id: MONDO:0018723 name: obsolete rare vascular malformation of major vessels subset: disease_grouping +subset: gard_rare {source="GARD:21917"} subset: ordo_group_of_disorders {source="Orphanet:458844"} +xref: GARD:21917 {source="Orphanet:458844", source="MONDO:obsoleteEquivalent"} xref: Orphanet:458844 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242093 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359310,7 +375036,9 @@ is_obsolete: true [Term] id: MONDO:0018724 name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome +subset: gard_rare {source="GARD:17815"} subset: ordo_malformation_syndrome {source="Orphanet:459070"} +xref: GARD:17815 {source="Orphanet:459070"} xref: Orphanet:459070 {source="MONDO:equivalentTo"} xref: UMLS:CN242161 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:459070"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -359324,9 +375052,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018725 name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome +subset: gard_rare {source="GARD:21918"} subset: ordo_malformation_syndrome {source="Orphanet:459074"} synonym: "7q36.3 microduplication syndrome" EXACT [Orphanet:459074] synonym: "dup(7)(q36.3)" EXACT [Orphanet:459074] +xref: GARD:21918 {source="Orphanet:459074"} xref: ICD10CM:Q04.0 {source="Orphanet:459074", source="Orphanet:459074/attributed", source="Orphanet:459074/ntbt"} xref: Orphanet:459074 {source="MONDO:equivalentTo"} xref: UMLS:CN242137 {source="MONDO:equivalentTo"} @@ -359346,7 +375076,9 @@ replaced_by: MONDO:0003832 id: MONDO:0018727 name: obsolete immunodeficiency due to a complement regulatory deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' +subset: gard_rare {source="GARD:21920"} subset: ordo_group_of_disorders {source="Orphanet:459348"} +xref: GARD:21920 {source="Orphanet:459348", source="MONDO:obsoleteEquivalent"} xref: Orphanet:459348 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 @@ -359358,7 +375090,9 @@ consider: MONDO:0003778 id: MONDO:0018728 name: obsolete rare genetic capillary malformation subset: disease_grouping +subset: gard_rare {source="GARD:21921"} subset: ordo_group_of_disorders {source="Orphanet:459526"} +xref: GARD:21921 {source="Orphanet:459526", source="MONDO:obsoleteEquivalent"} xref: Orphanet:459526 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242077 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -359370,9 +375104,11 @@ id: MONDO:0018729 name: obsolete genetic vascular tumor def: "OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21923"} subset: ordo_group_of_disorders {source="Orphanet:459543"} synonym: "genetic rare vascular tumor" EXACT [MONDO:patterns/genetic] synonym: "rare genetic vascular tumor" EXACT [Orphanet:459543] +xref: GARD:21923 {source="MONDO:obsoleteEquivalent", source="Orphanet:459543"} xref: Orphanet:459543 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242080 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359386,8 +375122,10 @@ id: MONDO:0018730 name: obsolete rare genetic venous malformation def: "OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21924"} subset: ordo_group_of_disorders {source="Orphanet:459548"} synonym: "genetic rare venous malformation" EXACT [MONDO:patterns/genetic] +xref: GARD:21924 {source="Orphanet:459548", source="MONDO:obsoleteEquivalent"} xref: Orphanet:459548 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN241790 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359398,6 +375136,8 @@ is_obsolete: true [Term] id: MONDO:0018731 name: obsolete lethal multiple congenital anomalies/dysmorphic syndrome +subset: gard_rare {source="GARD:21925"} +xref: GARD:21925 {source="Orphanet:459787", source="MONDO:obsoleteEquivalent"} xref: Orphanet:459787 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359407,8 +375147,10 @@ is_obsolete: true [Term] id: MONDO:0018733 name: intellectual disability syndrome due to a DYRK1A point mutation +subset: gard_rare {source="GARD:21926"} subset: ordo_clinical_subtype {source="Orphanet:464311"} synonym: "DYRK1A-related intellectual disability syndrome due to a point mutation" EXACT [Orphanet:464311] +xref: GARD:21926 {source="Orphanet:464311"} xref: Orphanet:464311 {source="MONDO:equivalentTo"} xref: UMLS:CN242084 {source="MONDO:equivalentTo"} is_a: MONDO:0013578 {source="Orphanet:464311"} ! DYRK1A-related intellectual disability syndrome @@ -359418,10 +375160,12 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0018734 name: verrucous hemangioma def: "A skin hemangioma characterized by the presence of epidermal hyperplasia." [NCIT:C4299] +subset: gard_rare {source="GARD:21927"} subset: ordo_disease {source="Orphanet:464318"} synonym: "verrucous keratotic hemangioma" EXACT [MONDO:0003106, NCIT:C4299] synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [DOID:470] xref: DOID:470 {source="MONDO:equivalentTo"} +xref: GARD:21927 {source="Orphanet:464318"} xref: ICD10CM:D18.0 {source="Orphanet:464318/ntbt", source="Orphanet:464318"} xref: ICDO:9142/0 {source="NCIT:C4299"} xref: NCIT:C4299 {source="MONDO:equivalentTo", source="DOID:470"} @@ -359438,6 +375182,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare id: MONDO:0018735 name: multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome def: "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." [NCIT:C60672] +subset: gard_rare {source="GARD:10467"} subset: ordo_disease {source="Orphanet:464321"} synonym: "cutaneovisceral angiomatosis-thrombocytopenia syndrome" EXACT [Orphanet:464321] synonym: "DKFZp434L132" EXACT [NCIT:C60672] @@ -359446,6 +375191,7 @@ synonym: "MLT" EXACT ABBREVIATION [Orphanet:464321] synonym: "MLT1" EXACT ABBREVIATION [NCIT:C60672] synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [NCIT:C60672] synonym: "multifocal lymphangioendotheliomatosis with thrombocytopenia" EXACT [Orphanet:464321] +xref: GARD:10467 {source="Orphanet:464321"} xref: ICD10CM:D18.1 {source="Orphanet:464321/ntbt", source="Orphanet:464321"} xref: NCIT:C60672 {source="MONDO:equivalentTo"} xref: Orphanet:464321 {source="MONDO:equivalentTo"} @@ -359457,8 +375203,10 @@ id: MONDO:0018736 name: kaposiform lymphangiomatosis def: "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." [PMID:24252784] comment: Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] +subset: gard_rare {source="GARD:13451"} subset: ordo_disease {source="Orphanet:464329"} synonym: "KLA" BROAD ABBREVIATION [PMID:24252784] +xref: GARD:13451 {source="Orphanet:464329"} xref: ICD10CM:D18.1 {source="Orphanet:464329/ntbt", source="Orphanet:464329"} xref: Orphanet:464329 {source="MONDO:equivalentTo"} is_a: MONDO:0024296 {source="Orphanet:464329"} ! vascular neoplasm @@ -359468,9 +375216,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare [Term] id: MONDO:0018737 name: catastrophic antiphospholipid syndrome +subset: gard_rare {source="GARD:9820"} subset: ordo_disease {source="Orphanet:464343"} synonym: "caps" EXACT [Orphanet:464343] synonym: "catastrophic APS" EXACT [Orphanet:464343] +xref: GARD:9820 {source="Orphanet:464343"} xref: ICD10CM:D68.6 {source="Orphanet:464343/ntbt", source="Orphanet:464343"} xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:464343 {source="MONDO:equivalentTo"} @@ -359483,7 +375233,9 @@ is_a: MONDO:8000010 {source="MONDO:cjm"} ! antiphospholipid syndrome id: MONDO:0018738 name: benign metanephric tumor def: "A benign neoplasm that involves the metanephros." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21928"} subset: ordo_disease {source="Orphanet:464359"} +xref: GARD:21928 {source="Orphanet:464359"} xref: ICD10CM:D30.0 {source="Orphanet:464359", source="Orphanet:464359/ntbt"} xref: Orphanet:464359 {source="MONDO:equivalentTo"} xref: UMLS:CN242075 {source="MONDO:equivalentTo"} @@ -359496,7 +375248,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare id: MONDO:0018739 name: neonatal alloimmune neutropenia def: "A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported." [Orphanet:464370] +subset: gard_rare {source="GARD:21929"} subset: ordo_disease {source="Orphanet:464370"} +xref: GARD:21929 {source="Orphanet:464370"} xref: ICD10CM:P61.5 {source="MONDO:relatedTo", source="Orphanet:464370/ntbt", source="Orphanet:464370"} xref: Orphanet:464370 {source="MONDO:equivalentTo"} xref: SCTID:14333004 {source="MONDO:equivalentTo"} @@ -359511,9 +375265,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018740 name: drug-induced methemoglobinemia def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." [NCIT:C101045] +subset: gard_rare {source="GARD:21930"} subset: ordo_disease {source="Orphanet:464453"} synonym: "acquired methemoglobinemia" BROAD [MONDO:patterns/acquired, Orphanet:464453] synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045] +xref: GARD:21930 {source="Orphanet:464453"} xref: ICD10CM:D74.8 {source="Orphanet:464453/ntbt", source="Orphanet:464453"} xref: NCIT:C101045 {source="MONDO:equivalentTo"} xref: Orphanet:464453 {source="MONDO:equivalentTo"} @@ -359527,8 +375283,10 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0018741 name: paracetamol poisoning +subset: gard_rare {source="GARD:21931"} subset: ordo_clinical_situation {source="Orphanet:464458"} synonym: "acetaminophen poisoning" EXACT [Orphanet:464458] +xref: GARD:21931 {source="Orphanet:464458"} xref: ICD9:965.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:464458 {source="MONDO:equivalentTo"} xref: SCTID:70273001 {source="MONDO:equivalentTo"} @@ -359540,9 +375298,11 @@ intersection_of: realized_in_response_to_stimulus CHEBI:46195 ! paracetamol id: MONDO:0018742 name: familial gastric type 1 neuroendocrine tumor comment: Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859 +subset: gard_rare {source="GARD:21932"} subset: ordo_disease {source="Orphanet:464756"} synonym: "familial type 1 gNET" EXACT [MONDO:cjm] synonym: "hereditary type 1 gNET" EXACT [MONDO:cjm] +xref: GARD:21932 {source="Orphanet:464756"} xref: Orphanet:464756 {source="MONDO:equivalentTo"} xref: UMLS:CN242170 {source="MONDO:equivalentTo"} is_a: MONDO:0015062 {source="MONDO:cjm"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade @@ -359551,6 +375311,8 @@ is_a: MONDO:0021223 {source="MONDO:0018972-obsoleted"} ! digestive system neopla [Term] id: MONDO:0018743 name: obsolete immune-mediated acquired neuromuscular junction disease +subset: gard_rare {source="GARD:21933"} +xref: GARD:21933 {source="MONDO:obsoleteEquivalent", source="Orphanet:464764"} xref: Orphanet:464764 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242076 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -359563,9 +375325,11 @@ id: MONDO:0018744 name: oligodendroglial tumor def: "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." [Orphanet:46484] subset: disease_grouping +subset: gard_rare {source="GARD:13156"} subset: ordo_group_of_disorders {source="Orphanet:46484"} synonym: "oligodendroglial neoplasm" EXACT [NCIT:C6960] synonym: "oligodendroglial tumor" EXACT [NCIT:C6960] +xref: GARD:13156 {source="Orphanet:46484"} xref: NCIT:C6960 {source="MONDO:equivalentTo"} xref: Orphanet:46484 {source="MONDO:equivalentTo"} xref: UMLS:C0028945 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:46484"} @@ -359578,6 +375342,8 @@ is_a: MONDO:0100342 {source="Orphanet:46484"} ! malignant glioma id: MONDO:0018745 name: obsolete superficial pemphigus def: "OBSOLETE. Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485] +subset: gard_rare {source="GARD:18833"} +xref: GARD:18833 {source="MONDO:obsoleteEquivalent", source="Orphanet:46485"} xref: ICD10CM:L10.2 {source="Orphanet:46485", source="Orphanet:46485/btnt"} xref: ICD10CM:L10.3 {source="Orphanet:46485", source="Orphanet:46485/btnt"} xref: ICD10CM:L10.4 {source="Orphanet:46485", source="Orphanet:46485/btnt"} @@ -359594,6 +375360,7 @@ is_obsolete: true id: MONDO:0018746 name: mucous membrane pemphigoid def: "Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." [Orphanet:46486] +subset: gard_rare {source="GARD:5913"} subset: ordo_disease {source="Orphanet:46486"} synonym: "benign mucosal pemphigoid" RELATED [GARD:0005913] synonym: "benign mucous membrance pemphigoid" RELATED [GARD:0005913] @@ -359608,6 +375375,7 @@ synonym: "ocular pemphigoid" RELATED [DOID:11656, SCTID:34250006] synonym: "ocular pemphigus" RELATED [DOID:11656] xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"} xref: EFO:1000680 {source="MONDO:equivalentTo"} +xref: GARD:5913 {source="Orphanet:46486"} xref: ICD10CM:L12.1 {source="DOID:11656", source="Orphanet:46486/ntbt", source="Orphanet:46486"} xref: ICD9:694.6 {source="DOID:11656"} xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -359631,7 +375399,7 @@ property_value: confidence "5.6923076923076925" xsd:double id: MONDO:0018747 name: acquired epidermolysis bullosa def: "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." [Orphanet:46487] -subset: gard_rare +subset: gard_rare {source="GARD:6360"} subset: ordo_disease {source="Orphanet:46487"} synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, MONDO:patterns/acquired] synonym: "EB acquisita" RELATED [GARD:0006360] @@ -359640,6 +375408,7 @@ synonym: "epidermolysis bullosa acquisita" EXACT [MONDO:0006542, NCIT:C84690, Or synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690] xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"} xref: EFO:1000691 {source="MONDO:equivalentTo"} +xref: GARD:6360 {source="Orphanet:46487"} xref: ICD10CM:L12.3 {source="Orphanet:46487/e", source="DOID:4313", source="MONDO:equivalentTo", source="Orphanet:46487"} xref: ICD10CM:L12.30 {source="DOID:4313"} xref: ICD9:695.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -359661,7 +375430,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6360/epiderm id: MONDO:0018748 name: linear IgA Dermatosis def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." [MESH:D062027] +subset: gard_rare {source="GARD:18834"} subset: ordo_disease {source="Orphanet:46488"} +xref: GARD:18834 {source="Orphanet:46488"} xref: ICD10CM:L10.8 {source="Orphanet:46488/ntbt", source="Orphanet:46488"} xref: MedDRA:10024515 {source="Orphanet:46488/e", source="Orphanet:46488"} xref: MESH:D062027 {source="MONDO:equivalentTo"} @@ -359674,8 +375445,10 @@ is_a: MONDO:0019337 {source="Orphanet:46488"} ! autoimmune bullous skin disease id: MONDO:0018749 name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome def: "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." [Orphanet:46532] +subset: gard_rare {source="GARD:18642"} subset: ordo_disease {source="Orphanet:46532"} synonym: "HPFH-beta-thalassemia syndrome" EXACT [Orphanet:46532] +xref: GARD:18642 {source="Orphanet:46532"} xref: HGNC:3627 {source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: HGNC:5153 {source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: ICD10CM:D56.4 {source="Orphanet:46532/specific", source="Orphanet:46532/e", source="Orphanet:46532"} @@ -359699,8 +375472,10 @@ id: MONDO:0018751 name: hereditary otorhinolaryngologic disease def: "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:21935"} subset: ordo_group_of_disorders {source="Orphanet:466084"} synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic] +xref: GARD:21935 {source="Orphanet:466084"} xref: Orphanet:466084 {source="MONDO:equivalentTo"} xref: UMLS:CN242186 {source="MONDO:equivalentTo"} intersection_of: MONDO:0024623 ! otorhinolaryngologic disease @@ -359711,8 +375486,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018752 name: exercise-induced malignant hyperthermia +subset: gard_rare {source="GARD:21936"} subset: ordo_disease {source="Orphanet:466650"} synonym: "Exertional heat stroke" EXACT [Orphanet:466650] +xref: GARD:21936 {source="Orphanet:466650"} xref: ICD10CM:T88.3 {source="Orphanet:466650/ntbt", source="Orphanet:466650"} xref: Orphanet:466650 {source="MONDO:equivalentTo"} xref: SCTID:735907005 {source="MONDO:equivalentTo"} @@ -359722,7 +375499,9 @@ is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder id: MONDO:0018753 name: obsolete rare disease with malignant hyperthermia subset: disease_grouping +subset: gard_rare {source="GARD:21937"} subset: ordo_group_of_disorders {source="Orphanet:466658"} +xref: GARD:21937 {source="MONDO:obsoleteEquivalent", source="Orphanet:466658"} xref: Orphanet:466658 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359733,7 +375512,9 @@ is_obsolete: true [Term] id: MONDO:0018754 name: cyanide poisoning +subset: gard_rare {source="GARD:21938"} subset: ordo_clinical_situation {source="Orphanet:466670"} +xref: GARD:21938 {source="Orphanet:466670"} xref: ICD10CM:T65.0 {source="Orphanet:466670/e", source="Orphanet:466670"} xref: ICD9:989.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:466670 {source="MONDO:equivalentTo"} @@ -359745,10 +375526,12 @@ is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning id: MONDO:0018755 name: scorpion envenomation def: "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." [Orphanet:466677] +subset: gard_rare {source="GARD:21939"} subset: ordo_disease {source="Orphanet:466677"} synonym: "poisoning caused by scorpion venom" EXACT [] synonym: "poisoning due to scorpion venom" EXACT [] synonym: "toxic effect of venom of scorpion" EXACT [] +xref: GARD:21939 {source="Orphanet:466677"} xref: ICD10CM:T63.2 {source="Orphanet:466677", source="Orphanet:466677/e"} xref: Orphanet:466677 {source="MONDO:equivalentTo"} xref: SCTID:217670007 {source="MONDO:equivalentTo"} @@ -359760,9 +375543,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0018756 name: euthyroid Graves orbitopathy comment: Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 +subset: gard_rare {source="GARD:21940"} subset: ordo_disease {source="Orphanet:466682"} synonym: "euthyroid Graves ophthalmopathy" EXACT [Orphanet:466682] xref: DOID:0081120 {source="MONDO:equivalentTo"} +xref: GARD:21940 {source="Orphanet:466682"} xref: ICD10CM:H05.2 {source="Orphanet:466682/ntbt", source="Orphanet:466682"} xref: Orphanet:466682 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease @@ -359774,7 +375559,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0018757 name: supratip dysplasia def: "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." [Orphanet:466695] +subset: gard_rare {source="GARD:21941"} subset: ordo_morphological_anomaly {source="Orphanet:466695"} +xref: GARD:21941 {source="Orphanet:466695"} xref: ICD10CM:J34.8 {source="Orphanet:466695", source="Orphanet:466695/ntbt"} xref: Orphanet:466695 {source="MONDO:equivalentTo"} is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease @@ -359783,6 +375570,8 @@ is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinol id: MONDO:0018758 name: obsolete familial patent arterial duct def: "OBSOLETE. Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729] +subset: gard_rare {source="GARD:17828"} +xref: GARD:17828 {source="MONDO:obsoleteEquivalent", source="Orphanet:466729"} xref: Orphanet:466729 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN242171 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -359794,7 +375583,9 @@ is_obsolete: true [Term] id: MONDO:0018759 name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome +subset: gard_rare {source="GARD:21942"} subset: ordo_disease {source="Orphanet:466921"} +xref: GARD:21942 {source="Orphanet:466921"} xref: Orphanet:466921 {source="MONDO:equivalentTo"} xref: UMLS:CN776870 {source="MONDO:equivalentTo"} is_a: MONDO:0016106 {source="Orphanet:466921"} ! progressive muscular dystrophy @@ -359802,9 +375593,11 @@ is_a: MONDO:0016106 {source="Orphanet:466921"} ! progressive muscular dystrophy [Term] id: MONDO:0018760 name: DeSanto-Shinawi syndrome +subset: gard_rare {source="GARD:17838"} subset: ordo_malformation_syndrome {source="Orphanet:466943"} synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [Orphanet:466943] xref: DOID:0081126 {source="MONDO:equivalentTo"} +xref: GARD:17838 {source="Orphanet:466943"} xref: Orphanet:466943 {source="MONDO:equivalentTo"} xref: UMLS:CN242159 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:466943"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -359816,9 +375609,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018761 name: SMARCA4-deficient sarcoma of thorax +subset: gard_rare {source="GARD:21943"} subset: ordo_disease {source="Orphanet:466962"} synonym: "SMARCA4-deficient thoracic sarcoma" EXACT [Orphanet:466962] xref: DOID:0080532 {source="MONDO:equivalentTo"} +xref: GARD:21943 {source="Orphanet:466962"} xref: Orphanet:466962 {source="MONDO:equivalentTo"} xref: UMLS:CN242100 {source="MONDO:equivalentTo"} is_a: MONDO:0018078 {source="Orphanet:466962"} ! soft tissue sarcoma @@ -359830,9 +375625,11 @@ id: MONDO:0018762 name: non-acquired combined pituitary hormone deficiency def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." [Orphanet:467] subset: disease_grouping +subset: gard_rare {source="GARD:2252"} subset: ordo_group_of_disorders {source="Orphanet:467"} synonym: "congenital combined pituitary hormone deficiency" EXACT [Orphanet:467] synonym: "congenital hypopituitarism" EXACT [Orphanet:467] +xref: GARD:2252 {source="Orphanet:467"} xref: ICD10CM:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="Orphanet:467/attributed", source="Orphanet:467/ntbt"} xref: Orphanet:467 {source="MONDO:equivalentTo"} is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone deficiency @@ -359840,8 +375637,10 @@ is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone def [Term] id: MONDO:0018763 name: tubulinopathy-associated dysgyria +subset: gard_rare {source="GARD:21944"} subset: ordo_disease {source="Orphanet:467166"} synonym: "brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome" EXACT [Orphanet:467166] +xref: GARD:21944 {source="Orphanet:467166"} xref: Orphanet:467166 {source="MONDO:equivalentTo"} xref: UMLS:CN242152 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="Orphanet:467166"} ! central nervous system malformation @@ -359853,7 +375652,9 @@ relationship: disease_has_major_feature MONDO:0020022 ! central nervous system m id: MONDO:0018764 name: microcephalic primordial dwarfism due to RTTN deficiency def: "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." [Orphanet:468631] +subset: gard_rare {source="GARD:17841"} subset: ordo_malformation_syndrome {source="Orphanet:468631"} +xref: GARD:17841 {source="Orphanet:468631"} xref: OMIM:614833 {source="Orphanet:468631", source="MONDO:equivalentTo"} xref: Orphanet:468631 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -359866,8 +375667,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018765 name: cryptogenic multifocal ulcerous stenosing enteritis +subset: gard_rare {source="GARD:21945"} subset: ordo_disease {source="Orphanet:468635"} synonym: "CMUSE" EXACT ABBREVIATION [Orphanet:468635] +xref: GARD:21945 {source="Orphanet:468635"} xref: Orphanet:468635 {source="MONDO:equivalentTo"} xref: SCTID:722849002 {source="MONDO:equivalentTo"} xref: UMLS:C4302263 {source="MONDO:equivalentTo"} @@ -359877,8 +375680,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare [Term] id: MONDO:0018766 name: chronic enteropathy associated with SLCO2A1 gene +subset: gard_rare {source="GARD:21946"} subset: ordo_disease {source="Orphanet:468641"} synonym: "CEAS" EXACT ABBREVIATION [Orphanet:468641] +xref: GARD:21946 {source="Orphanet:468641"} xref: Orphanet:468641 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="Orphanet:468641"} ! intestinal disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare @@ -359887,6 +375692,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare id: MONDO:0018767 name: severe primary trimethylaminuria def: "Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:6447"} subset: ordo_disease {source="Orphanet:468726"} synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" RELATED [GARD:0006447] @@ -359897,6 +375703,7 @@ synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] synonym: "TMAuria" RELATED [GARD:0006447] synonym: "trimethylaminuria" BROAD [OMIM:602079, OMIM:genemap2] xref: DOID:0080361 {source="MONDO:equivalentTo"} +xref: GARD:6447 {source="Orphanet:468726"} xref: HP:0003614 {source="MONDO:otherHierarchy"} xref: ICD10CM:E88.8 {source="Orphanet:468726/inclusion", source="Orphanet:468726", source="Orphanet:468726/ntbt"} xref: MESH:C536561 {source="MONDO:equivalentTo"} @@ -359916,6 +375723,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018768 name: familial cold autoinflammatory syndrome def: "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." [Orphanet:47045] +subset: gard_rare {source="GARD:9535"} subset: ordo_disease {source="Orphanet:47045"} synonym: "familial cold autoinflammatory syndrome" EXACT [Orphanet:47045] synonym: "familial cold urticaria" RELATED [Orphanet:47045] @@ -359923,6 +375731,7 @@ synonym: "familial polymorphous cold eruption" RELATED [GARD:0009535] synonym: "FCAS" EXACT ABBREVIATION [Orphanet:47045] synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045] xref: DOID:0090061 {source="MONDO:equivalentTo"} +xref: GARD:9535 {source="Orphanet:47045"} xref: ICD10CM:L50.2 {source="Orphanet:47045/inclusion", source="Orphanet:47045/ntbt", source="Orphanet:47045", source="DOID:0090061"} xref: MedDRA:10064570 {source="Orphanet:47045/e", source="Orphanet:47045"} xref: NCIT:C119053 {source="MONDO:equivalentTo"} @@ -359938,6 +375747,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:120100"} ! inheri id: MONDO:0018769 name: isosporiasis def: "An intestinal infection with Isospora belli." [NCIT:C4076] +subset: gard_rare {source="GARD:3033"} subset: ordo_disease {source="Orphanet:472"} synonym: "Cystoisospora belli caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cystoisospora belli disease or disorder" EXACT [] @@ -359947,6 +375757,7 @@ synonym: "infection by Isospora belli and Isospora hominis" RELATED [DOID:2112] synonym: "Isosporosis" EXACT [DOID:2112] xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"} xref: EFO:0007232 {source="MONDO:equivalentTo"} +xref: GARD:3033 {source="Orphanet:472"} xref: ICD10CM:A07.3 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472"} xref: MedDRA:10023076 {source="Orphanet:472/e", source="Orphanet:472"} xref: MESH:D021865 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472", source="EFO:0007232"} @@ -359967,6 +375778,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare id: MONDO:0018770 name: Jeune syndrome def: "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." [Orphanet:474] +subset: gard_rare {source="GARD:3049"} subset: ordo_malformation_syndrome {source="Orphanet:474"} synonym: "asphyxiating thoracic dystrophy" RELATED [DOID:0050592] synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [Orphanet:474] @@ -359981,6 +375793,7 @@ synonym: "short-rib thoracic dysplasia" EXACT [OMIMPS:208500] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID:0050592] synonym: "thoracic pelvic phalangeal dystrophy" EXACT [DOID:0050592, PMID:6636109] xref: DOID:0050592 {source="MONDO:equivalentTo"} +xref: GARD:3049 {source="Orphanet:474"} xref: ICD10CM:Q77.2 {source="Orphanet:474/ntbt", source="Orphanet:474/inclusion", source="Orphanet:474", source="DOID:0050592"} xref: MedDRA:10057621 {source="Orphanet:474/e", source="Orphanet:474"} xref: MESH:C537571 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474"} @@ -360000,11 +375813,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208500"} ! inheri id: MONDO:0018771 name: obsolete congenital anomaly of ventricular septum def: "OBSOLETE. A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location] +subset: gard_rare {source="GARD:21948"} synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347] synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern] synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347] synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347] +xref: GARD:21948 {source="MONDO:obsoleteEquivalent", source="Orphanet:474347"} xref: Orphanet:474347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -360017,6 +375832,7 @@ is_obsolete: true id: MONDO:0018772 name: Joubert syndrome def: "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [Orphanet:475] +subset: gard_rare {source="GARD:6802"} subset: ordo_disease {source="Orphanet:475"} synonym: "cerebellar vermis agenesis" RELATED [GARD:0006802] synonym: "cerebelloparenchymal disorder IV" EXACT [Orphanet:475] @@ -360028,6 +375844,7 @@ synonym: "Joubert syndrome type A" EXACT [Orphanet:475] synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475] synonym: "pure Joubert syndrome" EXACT [Orphanet:475] xref: DOID:0050777 {source="MONDO:equivalentTo"} +xref: GARD:6802 {source="Orphanet:475"} xref: ICD10CM:Q04.3 {source="DOID:0050777", source="Orphanet:475/attributed", source="Orphanet:475/ntbt", source="Orphanet:475"} xref: NCIT:C74996 {source="MONDO:equivalentTo"} xref: OMIMPS:213300 {source="DOID:0050777", source="MONDO:equivalentTo"} @@ -360044,7 +375861,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213300"} ! inheri [Term] id: MONDO:0018773 name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome +subset: gard_rare {source="GARD:21949"} subset: ordo_disease {source="Orphanet:476093"} +xref: GARD:21949 {source="Orphanet:476093"} xref: Orphanet:476093 {source="MONDO:equivalentTo"} xref: UMLS:CN776822 {source="MONDO:equivalentTo"} is_a: MONDO:0015362 {source="Orphanet:476093"} ! neuronopathy, distal hereditary motor, autosomal dominant @@ -360054,8 +375873,10 @@ is_a: MONDO:0018943 {source="Orphanet:476093"} ! myofibrillar myopathy id: MONDO:0018774 name: erythrokeratodermia-cardiomyopathy syndrome def: "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." [Orphanet:476096] +subset: gard_rare {source="GARD:21950"} subset: ordo_disease {source="Orphanet:476096"} synonym: "EKC syndrome" EXACT [Orphanet:476096] +xref: GARD:21950 {source="Orphanet:476096"} xref: Orphanet:476096 {source="MONDO:equivalentTo"} xref: UMLS:CN776912 {source="MONDO:equivalentTo"} is_a: MONDO:0019270 {source="Orphanet:476096"} ! erythrokeratoderma @@ -360068,7 +375889,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018775 name: obsolete axonal hereditary motor and sensory neuropathy +subset: gard_rare {source="GARD:21951"} synonym: "axonal HMSN" EXACT [Orphanet:476109] +xref: GARD:21951 {source="MONDO:obsoleteEquivalent", source="Orphanet:476109"} xref: Orphanet:476109 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -360080,9 +375903,11 @@ is_obsolete: true id: MONDO:0018776 name: demyelinating hereditary motor and sensory neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:21952"} subset: ordo_group_of_disorders {source="Orphanet:476116"} synonym: "demyelinating hereditary motor and sensory neuropathy" EXACT CLINGEN_PREFERRED [] synonym: "demyelinating HMSN" EXACT [Orphanet:476116] +xref: GARD:21952 {source="Orphanet:476116"} xref: Orphanet:476116 {source="MONDO:equivalentTo"} is_a: MONDO:0015358 {source="Orphanet:476116"} ! hereditary motor and sensory neuropathy is_a: MONDO:0015626 {source="Orphanet:476116"} ! Charcot-Marie-Tooth disease @@ -360090,7 +375915,9 @@ is_a: MONDO:0015626 {source="Orphanet:476116"} ! Charcot-Marie-Tooth disease [Term] id: MONDO:0018777 name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome +subset: gard_rare {source="GARD:21953"} subset: ordo_malformation_syndrome {source="Orphanet:476119"} +xref: GARD:21953 {source="Orphanet:476119"} xref: Orphanet:476119 {source="MONDO:equivalentTo"} xref: UMLS:CN776826 {source="MONDO:equivalentTo"} is_a: MONDO:0019280 {source="Orphanet:476119"} ! hypertrichosis @@ -360099,12 +375926,14 @@ is_a: MONDO:0019280 {source="Orphanet:476119"} ! hypertrichosis id: MONDO:0018778 name: intermediate Charcot-Marie-Tooth disease subset: disease_grouping +subset: gard_rare {source="GARD:21954"} subset: ordo_group_of_disorders {source="Orphanet:476123"} synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [DOID:0050543] synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [MONDO:0000350] synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [DOID:0050543] synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet:476123] xref: DOID:0050543 {source="MONDO:equivalentTo"} +xref: GARD:21954 {source="Orphanet:476123"} xref: Orphanet:476123 {source="MONDO:equivalentTo"} xref: UMLS:CN776860 {source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0050543", source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease @@ -360113,6 +375942,8 @@ relationship: excluded_subClassOf MONDO:0015358 {source="Orphanet:476123"} ! her [Term] id: MONDO:0018779 name: obsolete hypercontractile muscle stiffness syndrome +subset: gard_rare {source="GARD:21955"} +xref: GARD:21955 {source="MONDO:obsoleteEquivalent", source="Orphanet:476403"} xref: Orphanet:476403 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776841 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -360126,7 +375957,9 @@ is_obsolete: true id: MONDO:0018780 name: congenital generalized hypercontractile muscle stiffness syndrome comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:21956"} subset: ordo_disease {source="Orphanet:476406"} +xref: GARD:21956 {source="Orphanet:476406"} xref: Orphanet:476406 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital myopathy @@ -360140,6 +375973,7 @@ id: MONDO:0018781 name: KID syndrome def: "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." [Orphanet:477] comment: Editor note: Orphanet classifies as both AD and AR +subset: gard_rare {source="GARD:3113"} subset: ordo_disease {source="Orphanet:477"} subset: ordo_inheritance_inconsistent synonym: "ichthyosis hystrix Rheydt type" EXACT [Orphanet:477] @@ -360147,6 +375981,7 @@ synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003 synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477] synonym: "KID/HID syndrome" EXACT [Orphanet:477] synonym: "Senter syndrome" EXACT [Orphanet:477] +xref: GARD:3113 {source="Orphanet:477"} xref: ICD10CM:Q80.8 {source="Orphanet:477", source="Orphanet:477/attributed", source="Orphanet:477/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048786 {source="Orphanet:477", source="Orphanet:477/e"} @@ -360164,6 +375999,8 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:148210"} ! inheri [Term] id: MONDO:0018782 name: obsolete type 1 interferonopathy +subset: gard_rare {source="GARD:21957"} +xref: GARD:21957 {source="MONDO:obsoleteEquivalent", source="Orphanet:477647"} xref: Orphanet:477647 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -360174,7 +376011,9 @@ is_obsolete: true [Term] id: MONDO:0018783 name: fibroblastic rheumatism +subset: gard_rare {source="GARD:21958"} subset: ordo_disease {source="Orphanet:477650"} +xref: GARD:21958 {source="Orphanet:477650"} xref: ICD9:729.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:477650 {source="MONDO:equivalentTo"} xref: SCTID:399964004 {source="MONDO:equivalentTo"} @@ -360186,7 +376025,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare id: MONDO:0018784 name: pediatric multiple sclerosis def: "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." [Orphanet:477738] -subset: gard_rare {source="GARD:0010443"} +subset: gard_rare {source="GARD:10443"} subset: ordo_disease {source="Orphanet:477738"} synonym: "MS paediatric" RELATED OMO:0003005 [] synonym: "MS pediatric" RELATED [GARD:0010443] @@ -360194,6 +376033,7 @@ synonym: "multiple sclerosis, paediatric" RELATED OMO:0003005 [] synonym: "multiple sclerosis, pediatric" RELATED [GARD:0010443] synonym: "paediatric MS" RELATED OMO:0003005 [] synonym: "pediatric MS" RELATED [GARD:0010443] +xref: GARD:10443 {source="Orphanet:477738"} xref: Orphanet:477738 {source="MONDO:equivalentTo"} xref: UMLS:CN037005 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder @@ -360211,6 +376051,7 @@ replaced_by: MONDO:0004187 [Term] id: MONDO:0018786 name: obsolete pontine autosomal dominant microangiopathy with leukoencephalopathy +xref: GARD:17855 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6368" xsd:anyURI is_obsolete: true @@ -360219,7 +376060,9 @@ replaced_by: MONDO:0032814 [Term] id: MONDO:0018787 name: obsolete genetic cerebral small vessel disease +subset: gard_rare {source="GARD:21960"} subset: ordo_group_of_disorders {source="Orphanet:477754"} +xref: GARD:21960 {source="MONDO:obsoleteEquivalent", source="Orphanet:477754"} xref: Orphanet:477754 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776941 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} @@ -360230,7 +376073,9 @@ consider: MONDO:0005385 [Term] id: MONDO:0018788 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease +subset: gard_rare {source="GARD:21961"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759] +xref: GARD:21961 {source="MONDO:obsoleteEquivalent", source="Orphanet:477759"} xref: Orphanet:477759 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776854 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -360243,8 +376088,10 @@ is_obsolete: true id: MONDO:0018789 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' +subset: gard_rare {source="GARD:21962"} subset: ordo_group_of_disorders {source="Orphanet:477762"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy" EXACT [Orphanet:477762] +xref: GARD:21962 {source="Orphanet:477762", source="MONDO:obsoleteEquivalent"} xref: Orphanet:477762 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776856 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -360256,8 +376103,10 @@ consider: MONDO:0018788 id: MONDO:0018790 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' +subset: gard_rare {source="GARD:21963"} subset: ordo_group_of_disorders {source="Orphanet:477765"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy" EXACT [Orphanet:477765] +xref: GARD:21963 {source="MONDO:obsoleteEquivalent", source="Orphanet:477765"} xref: Orphanet:477765 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776855 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -360269,6 +376118,8 @@ consider: MONDO:0018788 id: MONDO:0018791 name: obsolete Moyomoya angiopathy def: "OBSOLETE. A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels." [PMID:32089044] +subset: gard_rare {source="GARD:21964"} +xref: GARD:21964 {source="MONDO:obsoleteEquivalent", source="Orphanet:477768"} xref: Orphanet:477768 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -360281,8 +376132,10 @@ id: MONDO:0018792 name: obsolete Moyamoya syndrome comment: Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy. subset: disease_grouping +subset: gard_rare {source="GARD:21965"} subset: ordo_group_of_disorders {source="Orphanet:477771"} synonym: "rare disorder with a Moyamoya angiopathy" RELATED [Orphanet:477771] +xref: GARD:21965 {source="MONDO:obsoleteEquivalent", source="Orphanet:477771"} xref: Orphanet:477771 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776904 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1767" xsd:anyURI @@ -360292,8 +376145,10 @@ consider: MONDO:0016820 [Term] id: MONDO:0018793 name: primary condylar hyperplasia +subset: gard_rare {source="GARD:21966"} subset: ordo_disease {source="Orphanet:477781"} synonym: "type 1 condylar hyperplasia" EXACT [Orphanet:477781] +xref: GARD:21966 {source="Orphanet:477781"} xref: Orphanet:477781 {source="MONDO:equivalentTo"} is_a: MONDO:0005473 {source="PMID:18778456", source="https://orcid.org/0009-0001-6494-4831"} ! temporomandibular joint disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -360301,6 +376156,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018794 name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder +subset: gard_rare {source="GARD:17857"} subset: ordo_disease {source="Orphanet:477787"} synonym: "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" EXACT CLINGEN_PREFERRED [] synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS" RELATED [OMIM:618372] @@ -360308,6 +376164,7 @@ synonym: "GURDP" RELATED ABBREVIATION [OMIM:618372] synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372] synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787] synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787] +xref: GARD:17857 {source="Orphanet:477787"} xref: OMIM:618372 {source="MONDO:equivalentTo"} xref: Orphanet:477787 {source="MONDO:equivalentTo", source="OMIM:618372"} xref: UMLS:C5193061 {source="OMIM:618372"} @@ -360321,8 +376178,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare id: MONDO:0018795 name: syndromic constitutional thrombocytopenia subset: disease_grouping +subset: gard_rare {source="GARD:21967"} subset: ordo_group_of_disorders {source="Orphanet:477794"} synonym: "syndromic constitutional thrombocytopenia" EXACT CLINGEN_PREFERRED [Orphanet:477794] +xref: GARD:21967 {source="Orphanet:477794"} xref: Orphanet:477794 {source="MONDO:equivalentTo"} xref: UMLS:CN776900 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="MONDO:cjm"} ! inherited thrombocytopenia @@ -360332,8 +376191,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018796 name: obsolete isolated constitutional thrombocytopenia +subset: gard_rare {source="GARD:21968"} synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797] synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797] +xref: GARD:21968 {source="Orphanet:477797", source="MONDO:obsoleteEquivalent"} xref: Orphanet:477797 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -360345,7 +376206,9 @@ is_obsolete: true id: MONDO:0018797 name: obsolete genetic cardiac malformation subset: disease_grouping +subset: gard_rare {source="GARD:21969"} subset: ordo_group_of_disorders {source="Orphanet:477805"} +xref: GARD:21969 {source="MONDO:obsoleteEquivalent", source="Orphanet:477805"} xref: Orphanet:477805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1175" xsd:anyURI is_obsolete: true @@ -360355,7 +376218,9 @@ consider: MONDO:0005453 id: MONDO:0018798 name: obsolete other genetic dermis disorder subset: disease_grouping +subset: gard_rare {source="GARD:21970"} subset: ordo_group_of_disorders {source="Orphanet:477808"} +xref: GARD:21970 {source="MONDO:obsoleteEquivalent", source="Orphanet:477808"} xref: Orphanet:477808 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776936 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -360367,8 +376232,10 @@ id: MONDO:0018799 name: obsolete rare hypercholesterolemia def: "OBSOLETE. Rare hypercholesterolemia." [] subset: disease_grouping +subset: gard_rare {source="GARD:21971"} subset: ordo_group_of_disorders {source="Orphanet:477811"} synonym: "rare hypercholesterolemia" EXACT [] +xref: GARD:21971 {source="MONDO:obsoleteEquivalent", source="Orphanet:477811"} xref: Orphanet:477811 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776861 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -360379,6 +376246,7 @@ replaced_by: MONDO:0000001 id: MONDO:0018800 name: Kallmann syndrome def: "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." [Orphanet:478] +subset: gard_rare {source="GARD:10771"} subset: ordo_disease {source="Orphanet:478"} synonym: "congenital hypogonadotropic hypogonadism with anosmia" EXACT [Orphanet:478] synonym: "familial hypogonadism with anosmia" EXACT [DOID:3614] @@ -360388,6 +376256,7 @@ synonym: "Kallman syndrome" EXACT [DOID:3614] synonym: "Kallman's syndrome" EXACT [DOID:3614] synonym: "Olfacto-genital pathological sequence" EXACT [Orphanet:478] xref: DOID:3614 {source="MONDO:equivalentTo"} +xref: GARD:10771 {source="Orphanet:478"} xref: ICD10CM:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="Orphanet:478/ntbt", source="DOID:3614", source="Orphanet:478/inclusion"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053142 {source="Orphanet:478", source="Orphanet:478/e"} @@ -360408,10 +376277,12 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0018801 name: congenital bilateral absence of vas deferens def: "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." [Orphanet:48] +subset: gard_rare {source="GARD:5461"} subset: ordo_morphological_anomaly {source="Orphanet:48"} synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48] synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48] xref: DOID:0111862 {source="MONDO:equivalentTo"} +xref: GARD:5461 {source="Orphanet:48"} xref: ICD10CM:Q55.4 {source="Orphanet:48", source="Orphanet:48/attributed", source="Orphanet:48/ntbt"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010670 {source="Orphanet:48", source="Orphanet:48/e"} @@ -360433,8 +376304,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018804 name: MYO5B-related progressive familial intrahepatic cholestasis +subset: gard_rare {source="GARD:21972"} subset: ordo_clinical_subtype {source="Orphanet:480491"} synonym: "MYO5B deficiency" EXACT [Orphanet:480491] +xref: GARD:21972 {source="Orphanet:480491"} xref: Orphanet:480491 {source="MONDO:equivalentTo"} xref: UMLS:CN776887 {source="MONDO:equivalentTo"} is_a: MONDO:0015762 {source="Orphanet:480491"} ! progressive familial intrahepatic cholestasis @@ -360443,6 +376316,7 @@ is_a: MONDO:0015762 {source="Orphanet:480491"} ! progressive familial intrahepat id: MONDO:0018805 name: bile duct cyst def: "Cystic dilatation of the hepatic duct or bile duct." [NCIT:P378] +subset: gard_rare {source="GARD:21973"} subset: ordo_morphological_anomaly {source="Orphanet:480501"} synonym: "bile duct cysts" EXACT [OMIM:603003] synonym: "choledochal cyst" EXACT [Orphanet:480501] @@ -360451,6 +376325,7 @@ synonym: "choledochocele" EXACT [OMIM:603003] synonym: "congenital choledochal cyst" EXACT [DOID:899] synonym: "congenital cystic dilatation of the biliary tract" EXACT [Orphanet:480501] xref: DOID:899 {source="MONDO:equivalentTo"} +xref: GARD:21973 {source="Orphanet:480501"} xref: ICD10CM:Q44.4 {source="DOID:899", source="MONDO:equivalentTo"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:751.69 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -360475,9 +376350,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018806 name: primary intrahepatic lithiasis +subset: gard_rare {source="GARD:21974"} subset: ordo_disease {source="Orphanet:480506"} synonym: "PIHL" EXACT ABBREVIATION [Orphanet:480506] synonym: "primary hepatolithiasis" EXACT [Orphanet:480506] +xref: GARD:21974 {source="Orphanet:480506"} xref: Orphanet:480506 {source="MONDO:equivalentTo"} is_a: MONDO:0004868 {source="Orphanet:480506"} ! biliary tract disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare @@ -360485,9 +376362,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare [Term] id: MONDO:0018807 name: idiopathic ductopenia +subset: gard_rare {source="GARD:21975"} subset: ordo_disease {source="Orphanet:480512"} synonym: "IAD" EXACT ABBREVIATION [Orphanet:480512] synonym: "idiopathic adult ductopenia" EXACT [Orphanet:480512] +xref: GARD:21975 {source="Orphanet:480512"} xref: Orphanet:480512 {source="MONDO:equivalentTo"} xref: UMLS:CN244899 {source="MONDO:equivalentTo"} is_a: MONDO:0004868 {source="Orphanet:480512"} ! biliary tract disorder @@ -360498,7 +376377,9 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018808 name: Caroli syndrome comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:21976"} subset: ordo_malformation_syndrome {source="Orphanet:480520"} +xref: GARD:21976 {source="Orphanet:480520"} xref: Orphanet:480520 {source="MONDO:equivalentTo"} xref: UMLS:CN776859 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -360512,8 +376393,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018809 name: idiopathic peliosis hepatis +subset: gard_rare {source="GARD:21977"} subset: ordo_disease {source="Orphanet:480524"} synonym: "idiopathic peliosis hepatitis" EXACT [Orphanet:480524] +xref: GARD:21977 {source="Orphanet:480524"} xref: Orphanet:480524 {source="MONDO:equivalentTo"} is_a: MONDO:0002251 {source="Orphanet:480524"} ! hepatitis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare @@ -360523,7 +376406,9 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0018810 name: lethal hydranencephaly-diaphragmatic hernia syndrome def: "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." [Orphanet:480528] +subset: gard_rare {source="GARD:21978"} subset: ordo_malformation_syndrome {source="Orphanet:480528"} +xref: GARD:21978 {source="Orphanet:480528"} xref: Orphanet:480528 {source="MONDO:equivalentTo"} xref: UMLS:CN776878 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:480528", source="Orphanet:480528/inferred"} ! disorder of development or morphogenesis @@ -360534,8 +376419,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0018811 name: congenital portosystemic shunt def: "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors." [Orphanet:480531] +subset: gard_rare {source="GARD:21979"} subset: ordo_morphological_anomaly {source="Orphanet:480531"} synonym: "congenital portosystemic venous fistula" EXACT [Orphanet:480531] +xref: GARD:21979 {source="Orphanet:480531"} xref: Orphanet:480531 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder @@ -360549,11 +376436,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018812 name: MSH3-related attenuated familial adenomatous polyposis +subset: gard_rare {source="GARD:17868"} subset: ordo_clinical_subtype {source="Orphanet:480536"} synonym: "MSH3-related AFAP" EXACT [Orphanet:480536] synonym: "MSH3-related attenuated familial adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "MSH3-related attenuated familial polyposis coli" EXACT [Orphanet:480536] synonym: "MSH3-related attenuated FAP" EXACT [Orphanet:480536] +xref: GARD:17868 {source="Orphanet:480536"} xref: Orphanet:480536 {source="MONDO:equivalentTo"} xref: UMLS:CN776886 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:480536"} ! attenuated familial adenomatous polyposis @@ -360561,7 +376450,9 @@ is_a: MONDO:0016362 {source="Orphanet:480536"} ! attenuated familial adenomatous [Term] id: MONDO:0018813 name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement +subset: gard_rare {source="GARD:21980"} subset: ordo_disease {source="Orphanet:480541"} +xref: GARD:21980 {source="Orphanet:480541"} xref: Orphanet:480541 {source="MONDO:equivalentTo"} is_a: MONDO:0017595 {source="Orphanet:480541"} ! aggressive B-cell non-Hodgkin lymphoma @@ -360569,9 +376460,11 @@ is_a: MONDO:0017595 {source="Orphanet:480541"} ! aggressive B-cell non-Hodgkin l id: MONDO:0018814 name: non-SCID combined immunodeficiency subset: disease_grouping +subset: gard_rare {source="GARD:21981"} subset: ordo_group_of_disorders {source="Orphanet:480549"} synonym: "non-SCID" EXACT [Orphanet:480549] synonym: "non-severe combined immunodeficiency" EXACT [Orphanet:480549] +xref: GARD:21981 {source="Orphanet:480549"} xref: Orphanet:480549 {source="MONDO:equivalentTo"} is_a: MONDO:0015131 {source="Orphanet:480549"} ! combined immunodeficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/108" xsd:anyURI @@ -360581,7 +376474,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018815 name: aneurysmal bone cyst def: "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." [NCIT:C3516] -subset: gard_rare {source="GARD:0008646"} +subset: gard_rare {source="GARD:21982"} subset: ordo_disease {source="Orphanet:480553"} synonym: "ABC" EXACT ABBREVIATION [NCIT:C3516] synonym: "aneurysmal bone cyst" EXACT [MONDO:ambiguous] @@ -360589,6 +376482,7 @@ synonym: "aneurysmal bone cyst (disease)" EXACT [https://orcid.org/0000-0002-660 synonym: "aneurysmal bone cysts" EXACT [OMIM:606179] synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516] synonym: "aneurysmal cyst of the bone" EXACT [NCIT:C3516] +xref: GARD:21982 {source="Orphanet:480553"} xref: HP:0012063 {source="MONDO:otherHierarchy"} xref: ICD9:733.22 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D017824 {source="MONDO:equivalentTo"} @@ -360606,9 +376500,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8646/aneurys id: MONDO:0018816 name: isolated neonatal sclerosing cholangitis def: "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." [Orphanet:480556] +subset: gard_rare {source="GARD:21983"} subset: ordo_disease {source="Orphanet:480556"} synonym: "NSC" RELATED ABBREVIATION [OMIM:617394] synonym: "sclerosing cholangitis, neonatal" RELATED [OMIM:617394] +xref: GARD:21983 {source="Orphanet:480556"} xref: OMIM:617394 {source="MONDO:equivalentTo"} xref: Orphanet:480556 {source="MONDO:equivalentTo"} xref: UMLS:C4479344 {source="MONDO:equivalentTo", source="OMIM:617394"} @@ -360619,10 +376515,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018818 name: facial diplegia with paresthesias +subset: gard_rare {source="GARD:21984"} subset: ordo_disease {source="Orphanet:480701"} synonym: "facial diplegia with paresthesias variant of GBS" EXACT [Orphanet:480701] synonym: "facial diplegia with paresthesias variant of Guillain-Barre syndrome" EXACT [Orphanet:480701] synonym: "facial diplegia with paresthesias variant of Guillain-Barré syndrome" EXACT [Orphanet:480701] +xref: GARD:21984 {source="Orphanet:480701"} xref: Orphanet:480701 {source="MONDO:equivalentTo"} xref: UMLS:CN776915 {source="MONDO:equivalentTo"} is_a: MONDO:0016218 {source="PMID:25072194", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome @@ -360640,12 +376538,14 @@ replaced_by: MONDO:0009526 id: MONDO:0018820 name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome def: "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." [Orphanet:480864] +subset: gard_rare {source="GARD:13423"} subset: ordo_disease {source="Orphanet:480864"} synonym: "MECRCN" EXACT ABBREVIATION [OMIM:616878] synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878] synonym: "TANGO2 deficiency" EXACT [PMID:31339582] synonym: "transport and golgi organisation protein 2 (TANGO2) deficiency" EXACT OMO:0003005 [] synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582] +xref: GARD:13423 {source="Orphanet:480864"} xref: OMIM:616878 {source="MONDO:equivalentTo"} xref: Orphanet:480864 {source="MONDO:equivalentTo"} xref: UMLS:C4225171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -360661,9 +376561,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13423/tango2 [Term] id: MONDO:0018821 name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability +subset: gard_rare {source="GARD:13638"} subset: ordo_malformation_syndrome {source="Orphanet:480880"} synonym: "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880] synonym: "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880] +xref: GARD:13638 {source="Orphanet:480880"} xref: Orphanet:480880 {source="MONDO:equivalentTo"} xref: UMLS:CN776923 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -360674,7 +376576,9 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:480880"} ! X-l id: MONDO:0018822 name: global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome def: "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." [Orphanet:480898] +subset: gard_rare {source="GARD:17871"} subset: ordo_disease {source="Orphanet:480898"} +xref: GARD:17871 {source="Orphanet:480898"} xref: Orphanet:480898 {source="MONDO:equivalentTo"} xref: UMLS:CN776946 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="Orphanet:480898"} ! eye disorder @@ -360688,7 +376592,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018823 name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome +subset: gard_rare {source="GARD:17872"} subset: ordo_malformation_syndrome {source="Orphanet:480907"} +xref: GARD:17872 {source="Orphanet:480907"} xref: Orphanet:480907 {source="MONDO:equivalentTo"} xref: UMLS:CN776924 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:480907"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -360699,10 +376605,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018824 name: pyoderma gangrenosum def: "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." [Orphanet:48104] -subset: gard_rare {source="GARD:0007510"} +subset: gard_rare {source="GARD:7510"} subset: ordo_disease {source="Orphanet:48104"} xref: DOID:8553 {source="MONDO:equivalentTo"} xref: EFO:0006835 {source="MONDO:equivalentTo"} +xref: GARD:7510 {source="Orphanet:48104"} xref: ICD10CM:L88 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"} xref: ICD9:686.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8553"} xref: MedDRA:10037635 {source="Orphanet:48104/e", source="Orphanet:48104"} @@ -360718,7 +376625,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7510/pyoderm id: MONDO:0018825 name: PYCR2-related microcephaly-progressive leukoencephalopathy def: "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." [Orphanet:481152] +subset: gard_rare {source="GARD:17873"} subset: ordo_malformation_syndrome {source="Orphanet:481152"} +xref: GARD:17873 {source="Orphanet:481152"} xref: Orphanet:481152 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:481152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0021147 ! disorder of development or morphogenesis @@ -360730,10 +376639,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018826 name: Lewis-Sumner syndrome def: "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." [Orphanet:48162] -subset: gard_rare {source="GARD:0013070"} +subset: gard_rare {source="GARD:13070"} subset: ordo_clinical_subtype {source="Orphanet:48162"} synonym: "MADSAM" EXACT ABBREVIATION [Orphanet:48162] synonym: "multifocal acquired demyelinating sensory and motor neuropathy" EXACT [Orphanet:48162] +xref: GARD:13070 {source="Orphanet:48162"} xref: ICD10CM:G61.8 {source="Orphanet:48162/ntbt", source="Orphanet:48162"} xref: MedDRA:10065580 {source="Orphanet:48162", source="Orphanet:48162/e"} xref: Orphanet:48162 {source="MONDO:equivalentTo"} @@ -360748,9 +376658,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13070/lewis- id: MONDO:0018827 name: familial chilblain lupus def: "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:17874"} subset: ordo_disease {source="Orphanet:481662"} synonym: "hereditary Chilblain lupus" EXACT [MONDO:patterns/hereditary] synonym: "hereditary chilblain lupus" EXACT [MONDO:patterns/hereditary] +xref: GARD:17874 {source="Orphanet:481662"} xref: OMIMPS:610448 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:481662 {source="MONDO:equivalentTo"} xref: UMLS:CN776917 {source="MONDO:equivalentTo"} @@ -360765,10 +376677,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018828 name: pseudo-TORCH syndrome 2 +subset: gard_rare {source="GARD:17875"} subset: ordo_disease {source="Orphanet:481665"} synonym: "pseudo-TORCH syndrome 2" EXACT [OMIM:617397] synonym: "PTORCH2" RELATED ABBREVIATION [OMIM:617397] synonym: "USP18 deficiency" RELATED [Orphanet:481665] +xref: GARD:17875 {source="Orphanet:481665"} xref: OMIM:617397 {source="MONDO:equivalentTo", source="Orphanet:481665"} xref: Orphanet:481665 {source="MONDO:equivalentTo", source="OMIM:617397"} xref: UMLS:C4479376 {source="MONDO:equivalentTo", source="OMIM:617397"} @@ -360782,9 +376696,11 @@ id: MONDO:0018829 name: familial schizencephaly def: "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) +subset: gard_rare {source="GARD:17876"} subset: ordo_etiological_subtype {source="Orphanet:481986"} synonym: "familial schizencephaly" EXACT [GARD:0000166] synonym: "hereditary schizencephaly" EXACT [MONDO:patterns/hereditary] +xref: GARD:17876 {source="Orphanet:481986"} xref: MESH:C538514 {source="MONDO:equivalentTo"} xref: Orphanet:481986 {source="MONDO:equivalentTo"} xref: UMLS:C2931870 {source="MONDO:equivalentTo"} @@ -360798,7 +376714,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018830 name: Kimura disease def: "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." [Orphanet:482] -subset: gard_rare {source="GARD:0006835"} +subset: gard_rare {source="GARD:6835"} subset: ordo_disease {source="Orphanet:482"} synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED [GARD:0006835] synonym: "eosinophilic granuloma of soft tissue" RELATED [GARD:0006835] @@ -360809,6 +376725,7 @@ synonym: "eosinophilic lymphogranuloma" EXACT [Orphanet:482] synonym: "Kimura's disease" EXACT [DOID:7365, NCIT:C26867] xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"} xref: EFO:1000722 {source="MONDO:equivalentTo"} +xref: GARD:6835 {source="Orphanet:482"} xref: ICD10CM:I89.8 {source="Orphanet:482/ntbt", source="Orphanet:482"} xref: MedDRA:10048640 {source="Orphanet:482/e", source="Orphanet:482"} xref: MESH:D000082242 {source="MONDO:equivalentTo"} @@ -360829,7 +376746,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6835/kimura- [Term] id: MONDO:0018831 name: obsolete HTRA1-related cerebral small vessel disease +subset: gard_rare {source="GARD:21988"} synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072] +xref: GARD:21988 {source="MONDO:obsoleteEquivalent", source="Orphanet:482072"} xref: Orphanet:482072 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776824 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -360841,8 +376760,10 @@ is_obsolete: true [Term] id: MONDO:0018832 name: HTRA1-related autosomal dominant cerebral small vessel disease +subset: gard_rare {source="GARD:17877"} subset: ordo_disease {source="Orphanet:482077"} synonym: "HTRA1-related autosomal dominant cerebral angiopathy" EXACT [Orphanet:482077] +xref: GARD:17877 {source="Orphanet:482077"} xref: Orphanet:482077 {source="MONDO:equivalentTo"} xref: UMLS:CN776823 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder @@ -360854,7 +376775,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018833 name: obsolete rare idiopathic macular telangiectasia subset: disease_grouping +subset: gard_rare {source="GARD:21989"} subset: ordo_group_of_disorders {source="Orphanet:482092"} +xref: GARD:21989 {source="MONDO:obsoleteEquivalent", source="Orphanet:482092"} xref: Orphanet:482092 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN776863 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -360874,12 +376797,14 @@ replaced_by: MONDO:0014877 id: MONDO:0018835 name: nodular regenerative hyperplasia of the liver def: "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." [Orphanet:48372] +subset: gard_rare {source="GARD:10929"} subset: ordo_disease {source="Orphanet:48372"} synonym: "miliary hepatocellular adenomatosis" RELATED [GARD:0010929] synonym: "nodular regenerative hyperplasia" RELATED [GARD:0010929] synonym: "non-cirrhotic nodular transformation" RELATED [GARD:0010929] synonym: "non-cirrhotic nodulation" EXACT [Orphanet:48372] synonym: "non-cirrhotic portal hypertension" RELATED [GARD:0010929] +xref: GARD:10929 {source="Orphanet:48372"} xref: ICD10CM:K76.8 {source="Orphanet:48372", source="Orphanet:48372/ntbt"} xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:48372 {source="MONDO:equivalentTo"} @@ -360899,7 +376824,9 @@ replaced_by: MONDO:0006614 id: MONDO:0018837 name: postinfectious vasculitis def: "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." [Orphanet:48435] +subset: gard_rare {source="GARD:18835"} subset: ordo_disease {source="Orphanet:48435"} +xref: GARD:18835 {source="Orphanet:48435"} xref: ICD10CM:I77.6 {source="Orphanet:48435/ntbt", source="Orphanet:48435"} xref: Orphanet:48435 {source="MONDO:equivalentTo"} xref: SCTID:724063005 {source="MONDO:equivalentTo"} @@ -360916,6 +376843,7 @@ name: lissencephaly spectrum disorders def: "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis." [Orphanet:48471] comment: Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. {xref="PMID:28440899", xref="PMID:20331703"} subset: disease_grouping +subset: gard_rare {source="GARD:12291"} subset: ordo_group_of_disorders {source="Orphanet:48471"} synonym: "Broad gyri of cerebrum" RELATED [GARD:0007300] synonym: "large gyri of cerebrum" RELATED [GARD:0007300] @@ -360925,6 +376853,7 @@ synonym: "lissencephaly spectrum disorders" EXACT CLINGEN_PREFERRED [] synonym: "macrogyria" RELATED [GARD:0007300] synonym: "pachygyria" RELATED [GARD:0007300] xref: DOID:0050453 {source="MONDO:equivalentTo"} +xref: GARD:12291 {source="Orphanet:48471"} xref: HP:0001339 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.3 {source="Orphanet:48471/inclusion", source="DOID:0050453", source="Orphanet:48471", source="Orphanet:48471/ntbt"} xref: ICD10CM:Q04.8 {source="DOID:0050453"} @@ -360951,8 +376880,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018839 name: acquired schizencephaly def: "An instance of schizencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:17879"} subset: ordo_etiological_subtype {source="Orphanet:485275"} synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired] +xref: GARD:17879 {source="Orphanet:485275"} xref: Orphanet:485275 {source="MONDO:equivalentTo"} xref: UMLS:CN776925 {source="MONDO:equivalentTo"} is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:485275"} ! schizencephaly @@ -360963,12 +376894,13 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0018840 name: isolated congenital hepatic fibrosis def: "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." [NCIT:C97071] -subset: gard_rare +subset: gard_rare {source="GARD:21995"} subset: ordo_disease {source="Orphanet:485426"} synonym: "congenital fibrose liver" RELATED [MESH:C562378] synonym: "congenital hepatic fibrosis" EXACT [MESH:C562378, NCIT:C97071] synonym: "isolated CHF" BROAD AMBIGUOUS [Orphanet:485426] synonym: "nonsyndromic congenital hepatic fibrosis" EXACT [MONDO:patterns/isolated] +xref: GARD:21995 {source="Orphanet:485426"} xref: ICD9:777.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562378 {source="MONDO:equivalentTo"} xref: NCIT:C97071 {source="MONDO:equivalentTo"} @@ -360985,6 +376917,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6168/congeni id: MONDO:0018841 name: congenital bile acid synthesis defect subset: disease_grouping +subset: gard_rare {source="GARD:21996"} subset: ordo_group_of_disorders {source="Orphanet:485631"} synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" RELATED EXCLUDE [DOID:0050674] synonym: "BASD" EXACT ABBREVIATION [Orphanet:485631] @@ -360993,6 +376926,7 @@ synonym: "CBA" EXACT ABBREVIATION [DOID:0050674] synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [DOID:0050674] xref: DOID:0050674 {source="MONDO:equivalentTo"} xref: EFO:0009039 {source="MONDO:equivalentTo"} +xref: GARD:21996 {source="Orphanet:485631"} xref: ICD10CM:K76.8 {source="DOID:0050674"} xref: OMIMPS:607765 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:485631 {source="MONDO:equivalentTo"} @@ -361004,13 +376938,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607765"} ! inheri id: MONDO:0018842 name: primary effusion lymphoma def: "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." [Orphanet:48686] -subset: gard_rare {source="GARD:0009247"} +subset: gard_rare {source="GARD:9247"} subset: ordo_disease {source="Orphanet:48686"} synonym: "AIDS-related lymphoma" RELATED [GARD:0009247] synonym: "body cavity-based lymphoma" EXACT [NCIT:C6915, Orphanet:48686] synonym: "PEL" EXACT ABBREVIATION [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686] synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915] xref: EFO:1000491 {source="MONDO:equivalentTo"} +xref: GARD:9247 {source="Orphanet:48686"} xref: ICD10CM:C83.8 {source="Orphanet:48686/ntbt", source="Orphanet:48686"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9678/3 {source="NCIT:C6915"} @@ -361031,6 +376966,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9247/primary id: MONDO:0018843 name: embryonal carcinoma of the central nervous system def: "A embryonal carcinoma that involves the central nervous system." [MONDO:patterns/location] +subset: gard_rare {source="GARD:18836"} subset: ordo_clinical_subtype {source="Orphanet:48736"} synonym: "central nervous system embryonal carcinoma" EXACT [MONDO:0004154, MONDO:patterns/location, NCIT:C7010] synonym: "embryonal carcinoma" RELATED [ONCOTREE:BEC] @@ -361038,6 +376974,7 @@ synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736] xref: DOID:7232 {source="MONDO:equivalentTo"} +xref: GARD:18836 {source="Orphanet:48736"} xref: ICD10CM:C71.9 {source="Orphanet:48736/ntbt", source="Orphanet:48736"} xref: NCIT:C7010 {source="MONDO:equivalentTo", source="DOID:7232"} xref: ONCOTREE:BEC {source="MONDO:equivalentTo"} @@ -361053,9 +376990,11 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0018844 name: urachal cyst def: "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." [Orphanet:488] +subset: gard_rare {source="GARD:5425"} subset: ordo_morphological_anomaly {source="Orphanet:488"} synonym: "urachal cyst" EXACT [MONDO:ambiguous] synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:5425 {source="Orphanet:488"} xref: HP:0012618 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.4 {source="Orphanet:488", source="Orphanet:488/ntbt"} xref: MedDRA:10065375 {source="Orphanet:488", source="Orphanet:488/e"} @@ -361071,9 +377010,11 @@ property_value: IAO:0000589 "urachal cyst (disease)" xsd:string id: MONDO:0018845 name: focal myositis def: "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." [Orphanet:48918] +subset: gard_rare {source="GARD:18837"} subset: ordo_disease {source="Orphanet:48918"} synonym: "focal nodular myositis" EXACT [Orphanet:48918] synonym: "inflammatory pseudotumor of skeletal muscle" EXACT [Orphanet:48918] +xref: GARD:18837 {source="Orphanet:48918"} xref: ICD10CM:M60.8 {source="Orphanet:48918", source="Orphanet:48918/ntbt"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:48918 {source="MONDO:equivalentTo"} @@ -361085,6 +377026,7 @@ is_a: MONDO:0020122 {source="Orphanet:48918"} ! acquired idiopathic inflammatory id: MONDO:0018846 name: penile agenesis def: "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." [NCIT:C99009] +subset: gard_rare {source="GARD:4272"} subset: ordo_morphological_anomaly {source="Orphanet:49"} synonym: "agenesis of the penis" RELATED [GARD:0004272] synonym: "Aphallia" EXACT [Orphanet:49] @@ -361093,6 +377035,7 @@ synonym: "congenital absence of penis" EXACT [NCIT:C99009] synonym: "micropenis" RELATED [GARD:0004272] synonym: "penis agenesia" RELATED [GARD:0004272] synonym: "penis agenesis" EXACT [Orphanet:49] +xref: GARD:4272 {source="Orphanet:49"} xref: ICD10CM:Q55.5 {source="Orphanet:49", source="Orphanet:49/e"} xref: MESH:C536649 {source="MONDO:equivalentTo", source="Orphanet:49", source="Orphanet:49/e"} xref: NCIT:C99009 {source="MONDO:equivalentTo"} @@ -361105,8 +377048,9 @@ is_a: MONDO:0020040 {source="Orphanet:49"} ! 46,XY disorder of sex development [Term] id: MONDO:0018847 name: omphalomesenteric cyst -subset: gard_rare {source="GARD:0004081"} +subset: gard_rare {source="GARD:4081"} subset: ordo_morphological_anomaly {source="Orphanet:490"} +xref: GARD:4081 {source="Orphanet:490"} xref: ICD10CM:Q43.0 {source="Orphanet:490", source="Orphanet:490/ntbt"} xref: Orphanet:490 {source="MONDO:equivalentTo"} xref: SCTID:80880002 {source="MONDO:equivalentTo"} @@ -361119,11 +377063,13 @@ id: MONDO:0018848 name: IgG4-related retroperitoneal fibrosis def: "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." [Orphanet:49041] comment: Editor note: TODO consider splitting out RF as separate term +subset: gard_rare {source="GARD:9568"} subset: ordo_disease {source="Orphanet:49041"} synonym: "idiopathic retroperitoneal fibrosis" EXACT [Orphanet:49041] synonym: "Ormond disease" EXACT [Orphanet:49041] synonym: "Ormond's disease" RELATED [GARD:0009568] synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876] +xref: GARD:9568 {source="Orphanet:49041"} xref: ICD10CM:N13.5 {source="Orphanet:49041/ntbt", source="Orphanet:49041"} xref: ICD9:593.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038979 {source="Orphanet:49041", source="Orphanet:49041/e"} @@ -361139,6 +377085,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare id: MONDO:0018849 name: dentinogenesis imperfecta def: "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." [Orphanet:49042] +subset: gard_rare {source="GARD:6258"} subset: ordo_disease {source="Orphanet:49042"} synonym: "dentinogenesis imperfecta" EXACT CLINGEN_PREFERRED [MONDO:0002895, MONDO:ambiguous] synonym: "dentinogenesis imperfecta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -361151,6 +377098,7 @@ synonym: "non-syndromic DGI" EXACT [Orphanet:49042] synonym: "opalescent teeth without OI" EXACT [Orphanet:49042] synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [Orphanet:49042] xref: DOID:4154 {source="MONDO:equivalentTo"} +xref: GARD:6258 {source="Orphanet:49042"} xref: HP:0000703 {source="MONDO:otherHierarchy"} xref: ICD10CM:K00.5 {source="Orphanet:49042/ntbt", source="Orphanet:49042/inclusion", source="Orphanet:49042", source="DOID:4154"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -361170,7 +377118,7 @@ property_value: IAO:0000589 "dentinogenesis imperfecta (disease)" xsd:string id: MONDO:0018850 name: proliferating trichilemmal cyst def: "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." [Orphanet:492] -subset: gard_rare {source="GARD:0004509"} +subset: gard_rare {source="GARD:4509"} subset: ordo_disease {source="Orphanet:492"} synonym: "Pilar cyst" EXACT [NCIT:C27125] synonym: "Pilar tumor" EXACT [NCIT:C27125] @@ -361184,6 +377132,7 @@ synonym: "proliferating trichilemmal tumor" EXACT [NCIT:C27125] synonym: "proliferating trichilemmal tumour" EXACT OMO:0003005 [] synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125] synonym: "proliferating Tricholemmal tumour" EXACT OMO:0003005 [] +xref: GARD:4509 {source="Orphanet:492"} xref: ICD10CM:L72.1 {source="Orphanet:492", source="Orphanet:492/ntbt"} xref: ICDO:8103/0 {source="NCIT:C27125"} xref: ICDO:8103/1 {source="NCIT:C27125"} @@ -361203,9 +377152,11 @@ id: MONDO:0018851 name: familial keratoacanthoma def: "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." [Orphanet:493] comment: Editor note: consider adding subtypes +subset: gard_rare {source="GARD:18693"} subset: ordo_disease {source="Orphanet:493"} synonym: "hereditary keratoacanthoma" EXACT [MONDO:patterns/hereditary, Orphanet:493] synonym: "multiple keratoacanthoma" EXACT [Orphanet:493] +xref: GARD:18693 {source="Orphanet:493"} xref: ICD10CM:L85.8 {source="Orphanet:493/attributed", source="Orphanet:493/ntbt", source="Orphanet:493"} xref: Orphanet:493 {source="MONDO:equivalentTo"} xref: SCTID:716774008 {source="MONDO:equivalentTo"} @@ -361225,6 +377176,7 @@ name: achromatopsia def: "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." [Orphanet:49382] comment: Editor note: we include incomplete forms here, such as BCM subset: clingen +subset: gard_rare {source="GARD:15015"} subset: ordo_disease {source="Orphanet:49382"} synonym: "ACHM" EXACT ABBREVIATION [DOID:13911, Orphanet:49382] synonym: "achromatopsia" EXACT CLINGEN_PREFERRED [] @@ -361237,6 +377189,7 @@ synonym: "Rod monochromatism" EXACT [Orphanet:49382] synonym: "total color blindness" EXACT [Orphanet:49382] synonym: "total colour blindness" EXACT OMO:0003005 [] xref: DOID:13911 {source="MONDO:equivalentTo"} +xref: GARD:15015 {source="Orphanet:49382"} xref: ICD10CM:H53.5 {source="Orphanet:49382/inclusion", source="Orphanet:49382/ntbt", source="Orphanet:49382"} xref: ICD10CM:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"} xref: ICD9:368.54 {source="DOID:13911"} @@ -361256,6 +377209,7 @@ property_value: confidence "0.30809469528042244" xsd:double [Term] id: MONDO:0018853 name: transgrediens et progrediens palmoplantar keratoderma +subset: gard_rare {source="GARD:3096"} subset: ordo_disease {source="Orphanet:495"} synonym: "Greither disease" EXACT [Orphanet:495] synonym: "keratosis extremitatum hereditaria progrediens" EXACT [Orphanet:495] @@ -361263,6 +377217,7 @@ synonym: "keratosis palmoplantaris transgrediens et progrediens" EXACT [Orphanet synonym: "progressive diffuse palmoplantar keratoderma" EXACT [Orphanet:495] synonym: "progressive diffuse PPK" EXACT [Orphanet:495] synonym: "transgrediens et progrediens PPK" EXACT [Orphanet:495] +xref: GARD:3096 {source="Orphanet:495"} xref: ICD10CM:Q82.8 {source="Orphanet:495/attributed", source="Orphanet:495/ntbt", source="Orphanet:495"} xref: Orphanet:495 {source="MONDO:equivalentTo"} xref: UMLS:C1851479 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:495"} @@ -361275,9 +377230,11 @@ property_value: confidence "0.6875000000000002" xsd:double id: MONDO:0018854 name: acquired purpura fulminans def: "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." [Orphanet:49566] +subset: gard_rare {source="GARD:18838"} subset: ordo_disease {source="Orphanet:49566"} synonym: "acquired PF" EXACT [Orphanet:49566] synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired] +xref: GARD:18838 {source="Orphanet:49566"} xref: ICD10CM:D65 {source="Orphanet:49566/ntbt", source="Orphanet:49566"} xref: MedDRA:10037556 {source="Orphanet:49566/e", source="Orphanet:49566"} xref: MESH:D014884 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"} @@ -361297,7 +377254,7 @@ id: MONDO:0018855 name: keratosis pilaris atrophicans def: "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." [https://www.dermnetnz.org/topics/keratosis-pilaris/] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:18694"} subset: ordo_group_of_disorders {source="Orphanet:498"} synonym: "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" RELATED [MESH:C537412] synonym: "Atrophodermia reticulata" RELATED [MESH:C537412] @@ -361315,6 +377272,7 @@ synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412] xref: DOID:0080751 {source="MONDO:equivalentTo"} +xref: GARD:18694 {source="Orphanet:498"} xref: ICD10CM:L85.8 {source="Orphanet:498/attributed", source="Orphanet:498/ntbt", source="Orphanet:498"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537412 {source="MONDO:equivalentTo"} @@ -361332,9 +377290,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1042/burnett id: MONDO:0018856 name: lichen amyloidosis def: "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." [Orphanet:49804] +subset: gard_rare {source="GARD:18839"} subset: ordo_disease {source="Orphanet:49804"} synonym: "amyloid lichen" EXACT [Orphanet:49804] synonym: "lichen amyloidosus" EXACT [Orphanet:49804] +xref: GARD:18839 {source="Orphanet:49804"} xref: ICD10EXP:E85.4+ {source="Orphanet:49804", source="Orphanet:49804/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:49804", source="Orphanet:49804/ntbt"} xref: Orphanet:49804 {source="MONDO:equivalentTo"} @@ -361344,9 +377304,10 @@ is_a: MONDO:0015301 {source="Orphanet:49804"} ! primary cutaneous amyloidosis [Term] id: MONDO:0018857 name: creeping myiasis -subset: gard_rare {source="GARD:0001609"} +subset: gard_rare {source="GARD:1609"} subset: ordo_disease {source="Orphanet:504"} synonym: "migratory myiasis" EXACT [Orphanet:504] +xref: GARD:1609 {source="Orphanet:504"} xref: ICD10CM:B87.0 {source="Orphanet:504/ntbt", source="Orphanet:504"} xref: MedDRA:10059547 {source="Orphanet:504", source="Orphanet:504/e"} xref: MESH:D007815 {source="MONDO:relatedTo", source="Orphanet:504", source="Orphanet:504/e"} @@ -361361,11 +377322,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1609/creepin id: MONDO:0018858 name: Graham Little-Piccardi-Lassueur syndrome def: "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." [Orphanet:505] -subset: gard_rare {source="GARD:0003195"} +subset: gard_rare {source="GARD:3195"} subset: ordo_disease {source="Orphanet:505"} synonym: "Graham Little syndrome" EXACT [Orphanet:505] synonym: "Graham-Little-Piccardi-Lassueur syndrome" RELATED [GARD:0003195] synonym: "Piccardi-Lassueur-Little syndrome" EXACT [Orphanet:505] +xref: GARD:3195 {source="Orphanet:505"} xref: ICD10CM:L66.1 {source="Orphanet:505", source="MONDO:directSiblingOf", source="Orphanet:505/attributed", source="Orphanet:505/ntbt"} xref: Orphanet:505 {source="MONDO:equivalentTo"} xref: SCTID:718215008 {source="MONDO:equivalentTo"} @@ -361384,8 +377346,10 @@ replaced_by: MONDO:0009723 id: MONDO:0018860 name: microlissencephaly-micromelia syndrome def: "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." [Orphanet:50810] +subset: gard_rare {source="GARD:18840"} subset: ordo_malformation_syndrome {source="Orphanet:50810"} synonym: "Basel-Vanagaite-Sirota syndrome" EXACT [Orphanet:50810] +xref: GARD:18840 {source="Orphanet:50810"} xref: ICD10CM:Q04.3 {source="Orphanet:50810", source="Orphanet:50810/attributed", source="Orphanet:50810/ntbt"} xref: Orphanet:50810 {source="MONDO:equivalentTo"} xref: UMLS:CN205181 {source="MONDO:equivalentTo"} @@ -361398,8 +377362,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018861 name: Zellweger-like syndrome without peroxisomal anomalies def: "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." [Orphanet:50812] +subset: gard_rare {source="GARD:18841"} subset: ordo_disease {source="Orphanet:50812"} synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812] +xref: GARD:18841 {source="Orphanet:50812"} xref: ICD10CM:Q87.8 {source="Orphanet:50812/attributed", source="Orphanet:50812/ntbt", source="Orphanet:50812"} xref: Orphanet:50812 {source="MONDO:equivalentTo"} xref: SCTID:718880003 {source="MONDO:equivalentTo"} @@ -361424,6 +377390,7 @@ replaced_by: MONDO:0005825 id: MONDO:0018864 name: Kikuchi-Fujimoto disease def: "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." [Orphanet:50918] +subset: gard_rare {source="GARD:6834"} subset: ordo_disease {source="Orphanet:50918"} synonym: "histiocytic necrotising lymphadenitis" RELATED [GARD:0006834] synonym: "histiocytic necrotizing lymphadenitis" EXACT [Orphanet:50918] @@ -361432,6 +377399,7 @@ synonym: "Kikuchi necrotizing lymphadenitis" RELATED [GARD:0006834] synonym: "Kikuchi's disease" RELATED [GARD:0006834] synonym: "Kikuchi-Fujimoto's disease" RELATED [GARD:0006834] synonym: "nosocomial Kikuchi's disease" RELATED [GARD:0006834] +xref: GARD:6834 {source="Orphanet:50918"} xref: ICD10CM:I88.1 {source="Orphanet:50918", source="Orphanet:50918/ntbt"} xref: MESH:D020042 {source="MONDO:equivalentTo"} xref: NCIT:C71719 {source="MONDO:equivalentTo"} @@ -361444,11 +377412,13 @@ is_a: MONDO:0002052 {source="MESH:D020042", source="NCIT:C71719"} ! lymphadeniti id: MONDO:0018865 name: striate palmoplantar keratoderma def: "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." [Orphanet:50942] +subset: gard_rare {source="GARD:15016"} subset: ordo_disease {source="Orphanet:50942"} synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942] xref: DOID:0081105 {source="MONDO:equivalentTo"} +xref: GARD:15016 {source="Orphanet:50942"} xref: ICD10CM:Q82.8 {source="Orphanet:50942", source="Orphanet:50942/attributed", source="Orphanet:50942/ntbt"} xref: Orphanet:50942 {source="MONDO:equivalentTo"} xref: SCTID:764958008 {source="MONDO:equivalentTo"} @@ -361465,7 +377435,7 @@ id: MONDO:0018866 name: Aicardi-Goutieres syndrome def: "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." [Orphanet:51] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:575"} subset: ordo_disease {source="Orphanet:51"} synonym: "AGS" RELATED ABBREVIATION [GARD:0000575] synonym: "Aicardi Goutieres syndrome" EXACT [GARD:0000575] @@ -361476,6 +377446,7 @@ synonym: "encephalopathy with intracranial calcification and chronic lymphocytos synonym: "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis" RELATED [GARD:0000575] synonym: "pseudotoxoplasmosis syndrome" RELATED [GARD:0000575] xref: DOID:0050629 {source="MONDO:equivalentTo"} +xref: GARD:575 {source="Orphanet:51"} xref: ICD10CM:G31.8 {source="Orphanet:51/attributed", source="Orphanet:51/ntbt", source="DOID:0050629", source="Orphanet:51"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535607 {source="Orphanet:51/e", source="MONDO:equivalentTo", source="Orphanet:51"} @@ -361504,6 +377475,7 @@ replaced_by: MONDO:0009563 id: MONDO:0018868 name: metachromatic leukodystrophy def: "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." [Orphanet:512] +subset: gard_rare {source="GARD:3230"} subset: ordo_disease {source="Orphanet:512"} synonym: "arylsulfatase A deficiency" EXACT [DOID:10581, Orphanet:512] synonym: "deficiency of cerebroside-sulfatase" EXACT [DOID:10581] @@ -361511,6 +377483,7 @@ synonym: "MLD" EXACT ABBREVIATION [DOID:10581, Orphanet:512] synonym: "Scholz cerebral sclerosis" EXACT [DOID:10581] synonym: "sulfatide lipoidosis" EXACT [DOID:10581] xref: DOID:10581 {source="MONDO:equivalentTo"} +xref: GARD:3230 {source="Orphanet:512"} xref: ICD10CM:E75.2 {source="Orphanet:512/ntbt", source="Orphanet:512", source="Orphanet:512/inclusion"} xref: ICD10CM:E75.25 {source="DOID:10581"} xref: ICD10CM:E75.29 {source="DOID:10581"} @@ -361537,8 +377510,10 @@ id: MONDO:0018869 name: cobblestone lissencephaly def: "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." [Orphanet:51577] subset: disease_grouping +subset: gard_rare {source="GARD:3277"} subset: ordo_group_of_disorders {source="Orphanet:51577"} synonym: "lissencephaly type 2" EXACT [Orphanet:51577] +xref: GARD:3277 {source="Orphanet:51577"} xref: ICD10CM:Q04.3 {source="Orphanet:51577/ntbt", source="Orphanet:51577/inclusion", source="Orphanet:51577"} xref: MESH:D054222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:51577 {source="MONDO:equivalentTo"} @@ -361550,6 +377525,7 @@ is_a: MONDO:0018838 {source="Orphanet:51577"} ! lissencephaly spectrum disorders id: MONDO:0018870 name: arterial calcification of infancy def: "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." [Orphanet:51608] +subset: gard_rare {source="GARD:8380"} subset: ordo_disease {source="Orphanet:51608"} synonym: "generalised arterial calcification in infancy" RELATED OMO:0003005 [] synonym: "generalised arterial calcification of infancy" EXACT OMO:0003005 [] @@ -361561,6 +377537,7 @@ synonym: "IIAC" RELATED ABBREVIATION [GARD:0008380] synonym: "infantile arteriosclerosis" EXACT [DOID:0050644, Orphanet:51608] synonym: "occlusive infantile arteriopathy" EXACT [Orphanet:51608] xref: DOID:0050644 {source="MONDO:equivalentTo"} +xref: GARD:8380 {source="Orphanet:51608"} xref: ICD10CM:Q28.8 {source="Orphanet:51608/index", source="Orphanet:51608/ntbt", source="Orphanet:51608"} xref: MESH:C537440 {source="Orphanet:51608/e", source="MONDO:equivalentTo", source="Orphanet:51608"} xref: OMIMPS:208000 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -361575,7 +377552,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208000"} ! inheri id: MONDO:0018871 name: acute myelomonocytic leukemia M4 def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" [NCIT:C7463] -subset: gard_rare +subset: gard_rare {source="GARD:529"} subset: ordo_disease {source="Orphanet:517"} synonym: "acute M4 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463] @@ -361591,6 +377568,7 @@ synonym: "AMML" EXACT ABBREVIATION [NCIT:C7463] synonym: "AMMoL" EXACT [GARD:0000529, Orphanet:517] xref: DOID:0081082 {source="MONDO:equivalentTo"} xref: EFO:0000223 {source="MONDO:equivalentTo"} +xref: GARD:529 {source="Orphanet:517"} xref: ICD10CM:C92.5 {source="Orphanet:517", source="Orphanet:517/e"} xref: ICDO:9867/3 {source="NCIT:C7463"} xref: MedDRA:10000890 {source="Orphanet:517", source="Orphanet:517/e"} @@ -361610,7 +377588,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/529/acute-my id: MONDO:0018872 name: acute megakaryoblastic leukemia def: "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." [Orphanet:518] -subset: gard_rare {source="GARD:0000524"} +subset: gard_rare {source="GARD:524"} subset: ordo_disease {source="Orphanet:518"} synonym: "acute M7 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170] @@ -361636,6 +377614,7 @@ synonym: "thrombocytic leukaemia" EXACT OMO:0003005 [] synonym: "thrombocytic leukemia" EXACT [DOID:8761] xref: DOID:8761 {source="MONDO:equivalentTo"} xref: EFO:0003025 {source="MONDO:equivalentTo"} +xref: GARD:524 {source="Orphanet:518"} xref: ICD10CM:C94.2 {source="Orphanet:518", source="DOID:8761", source="Orphanet:518/ntbt"} xref: ICD10CM:C94.20 {source="DOID:8761"} xref: ICD9:207.2 {source="DOID:8761"} @@ -361662,10 +377641,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/524/acute-me id: MONDO:0018873 name: anterior cutaneous nerve entrapment syndrome def: "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." [Orphanet:51890] +subset: gard_rare {source="GARD:18843"} subset: ordo_disease {source="Orphanet:51890"} synonym: "ACNES" EXACT ABBREVIATION [Orphanet:51890] synonym: "intercostal nerve syndrome" EXACT [Orphanet:51890] synonym: "rectus abdominis syndrome" EXACT [Orphanet:51890] +xref: GARD:18843 {source="Orphanet:51890"} xref: ICD10CM:G58.0 {source="Orphanet:51890"} xref: Orphanet:51890 {source="MONDO:equivalentTo"} xref: UMLS:CN776944 {source="MONDO:equivalentTo"} @@ -361676,7 +377657,7 @@ id: MONDO:0018874 name: acute myeloid leukemia def: "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." [Orphanet:519] subset: disease_grouping -subset: gard_rare {source="GARD:0012757"} +subset: gard_rare {source="GARD:12757"} subset: ordo_group_of_disorders {source="Orphanet:519"} synonym: "acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171] @@ -361715,6 +377696,7 @@ synonym: "myeloid leukemia, acute" EXACT [MONDO:patterns/acute] synonym: "myeloid leukemia, acute, M4/M4Eo subtype, somatic" EXACT [OMIM:601626, OMIM:genemap2] xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"} xref: EFO:0000222 {source="MONDO:equivalentTo"} +xref: GARD:12757 {source="Orphanet:519"} xref: ICD10CM:C92.0 {source="DOID:9119", source="Orphanet:519", source="Orphanet:519/e"} xref: ICD10CM:C92.00 {source="DOID:9119"} xref: ICD9:205.0 {source="DOID:9119", source="EFO:0000222"} @@ -361752,6 +377734,7 @@ id: MONDO:0018875 name: Li-Fraumeni syndrome def: "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." [Orphanet:524] subset: clingen +subset: gard_rare {source="GARD:6902"} subset: ordo_disease {source="Orphanet:524"} synonym: "LFS" EXACT ABBREVIATION [OMIM:151623] synonym: "LFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151623] @@ -361771,6 +377754,7 @@ synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111503 xref: DOID:3012 {source="MONDO:equivalentTo"} +xref: GARD:6902 {source="Orphanet:524"} xref: ICD10CM:D48.9 {source="Orphanet:524", source="Orphanet:524/attributed", source="Orphanet:524/ntbt"} xref: ICD9:V84.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066795 {source="Orphanet:524", source="Orphanet:524/e"} @@ -361799,6 +377783,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018876 name: mantle cell lymphoma def: "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." [Orphanet:52416] +subset: gard_rare {source="GARD:6969"} subset: ordo_disease {source="Orphanet:52416"} synonym: "classical mantle cell lymphoma" EXACT [NCIT:C4337] synonym: "LCM" EXACT ABBREVIATION [Orphanet:52416] @@ -361808,6 +377793,7 @@ synonym: "mantle zone lymphoma" EXACT [NCIT:C4337, Orphanet:52416] synonym: "MCL" EXACT ABBREVIATION [NCIT:C4337, Orphanet:52416] xref: DOID:0050746 {source="MONDO:equivalentTo"} xref: EFO:1001469 {source="MONDO:equivalentTo"} +xref: GARD:6969 {source="Orphanet:52416"} xref: ICD10CM:C83.1 {source="Orphanet:52416", source="Orphanet:52416/e"} xref: ICD9:200.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9673/3 {source="NCIT:C4337"} @@ -361824,7 +377810,9 @@ is_a: MONDO:0017595 {source="Orphanet:52416"} ! aggressive B-cell non-Hodgkin ly [Term] id: MONDO:0018877 name: retinitis punctata albescens +subset: gard_rare {source="GARD:16655"} subset: ordo_disease {source="Orphanet:52427"} +xref: GARD:16655 {source="Orphanet:52427"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:52427", source="Orphanet:52427/index", source="Orphanet:52427/ntbt"} xref: Orphanet:52427 {source="MONDO:equivalentTo"} xref: SCTID:715562001 {source="MONDO:equivalentTo"} @@ -361840,11 +377828,13 @@ property_value: confidence "2.8000000000000003" xsd:double id: MONDO:0018878 name: branchiootic syndrome def: "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." [Orphanet:52429] +subset: gard_rare {source="GARD:10148"} subset: ordo_malformation_syndrome {source="Orphanet:52429"} synonym: "bo syndrome" EXACT [DOID:0060232] synonym: "bor" EXACT [DOID:0060232] synonym: "branchiootic dysplasia" EXACT [DOID:0060232] xref: DOID:0060232 {source="MONDO:equivalentTo"} +xref: GARD:10148 {source="Orphanet:52429"} xref: ICD10CM:Q87.0 {source="DOID:0060232", source="Orphanet:52429/attributed", source="Orphanet:52429/ntbt", source="Orphanet:52429"} xref: MESH:C537104 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="DOID:0060232", source="MONDO:equivalentTo"} @@ -361859,6 +377849,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0018879 name: lichen planopilaris def: "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." [Orphanet:525] +subset: gard_rare {source="GARD:3247"} subset: ordo_disease {source="Orphanet:525"} synonym: "follicular lichen planus" EXACT [Orphanet:525] synonym: "frontal fibrosing alopecia (subtype)" RELATED [GARD:0003247] @@ -361867,6 +377858,7 @@ synonym: "lichen follicularis" EXACT [Orphanet:525] synonym: "lichen planopilaris classic type" RELATED [GARD:0003247] synonym: "lichen planus follicularis" EXACT [Orphanet:525] synonym: "LPP" EXACT ABBREVIATION [Orphanet:525] +xref: GARD:3247 {source="Orphanet:525"} xref: ICD10CM:L66.1 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} xref: MESH:C535892 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} xref: Orphanet:525 {source="MONDO:equivalentTo"} @@ -361878,8 +377870,10 @@ is_a: MONDO:0004907 {source="Orphanet:525"} ! alopecia id: MONDO:0018880 name: obsolete rare teratologic disease subset: disease_grouping +subset: gard_rare {source="GARD:22505"} subset: ordo_group_of_disorders {source="Orphanet:52662"} synonym: "acquired embryofetopathy" EXACT [Orphanet:52662] +xref: GARD:22505 {source="Orphanet:52662", source="MONDO:obsoleteEquivalent"} xref: Orphanet:52662 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205231 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -361892,6 +377886,7 @@ id: MONDO:0018881 name: myelodysplastic syndrome def: "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" [NCIT:C3247] subset: disease_grouping +subset: gard_rare {source="GARD:7132"} subset: ordo_group_of_disorders {source="Orphanet:52688"} synonym: "dysmyelopoietic syndrome" EXACT [NCIT:C3247] synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [NCIT:C3247] @@ -361914,6 +377909,7 @@ synonym: "smoldering leukemia" EXACT [NCIT:C3247] synonym: "smouldering leukaemia" EXACT OMO:0003005 [] xref: DOID:0050908 {source="EFO:0000198", source="MONDO:equivalentTo"} xref: EFO:0000198 {source="MONDO:equivalentTo"} +xref: GARD:7132 {source="Orphanet:52688"} xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:238.7 {source="DOID:0050908"} xref: ICD9:238.75 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -361944,11 +377940,13 @@ id: MONDO:0018882 name: vasculitis def: "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease." [Orphanet:52759] subset: disease_grouping +subset: gard_rare {source="GARD:18844"} subset: ordo_group_of_disorders {source="Orphanet:52759"} synonym: "angiitis" RELATED [DOID:865] synonym: "systemic vasculitis" NARROW [Orphanet:52759] xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"} xref: EFO:0006803 {source="MONDO:equivalentTo"} +xref: GARD:18844 {source="Orphanet:52759"} xref: MedDRA:10036023 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: MedDRA:10047115 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: MESH:D014657 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="Orphanet:52759"} @@ -361973,6 +377971,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048"} ! rare id: MONDO:0018883 name: Berardinelli-Seip congenital lipodystrophy def: "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." [https://orcid.org/0000-0001-5208-3432, Orphanet:528] +subset: gard_rare {source="GARD:13388"} subset: ordo_disease {source="Orphanet:528"} synonym: "Beradinelli-Seip syndrome" EXACT [Orphanet:528] synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594] @@ -361988,6 +377987,7 @@ synonym: "Lawrence-Seip syndrome" RELATED [NCIT:C84594] synonym: "lipoatrophic diabetes" RELATED [Orphanet:528] synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594] synonym: "total lipodystrophy" EXACT [NCIT:C84594] +xref: GARD:13388 {source="Orphanet:528"} xref: ICD10CM:E88.1 {source="Orphanet:528", source="Orphanet:528/attributed", source="Orphanet:528/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10024603 {source="Orphanet:528", source="Orphanet:528/e"} @@ -362010,9 +378010,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018884 name: Roch-Leri mesosomatous lipomatosis def: "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." [Orphanet:529] -subset: gard_rare {source="GARD:0004733"} +subset: gard_rare {source="GARD:4733"} subset: ordo_disease {source="Orphanet:529"} synonym: "Roch-Leri syndrome" RELATED [GARD:0004733] +xref: GARD:4733 {source="Orphanet:529"} xref: ICD10CM:E88.2 {source="Orphanet:529", source="Orphanet:529/attributed", source="Orphanet:529/ntbt"} xref: Orphanet:529 {source="MONDO:equivalentTo"} xref: SCTID:716772007 {source="MONDO:equivalentTo"} @@ -362025,7 +378026,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4733/roch-le id: MONDO:0018885 name: orbital leiomyoma def: "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." [Orphanet:52994] +subset: gard_rare {source="GARD:18845"} subset: ordo_disease {source="Orphanet:52994"} +xref: GARD:18845 {source="Orphanet:52994"} xref: ICD10CM:D31.6 {source="Orphanet:52994", source="Orphanet:52994/ntbt"} xref: Orphanet:52994 {source="MONDO:equivalentTo"} xref: SCTID:719045009 {source="MONDO:equivalentTo"} @@ -362045,8 +378048,10 @@ id: MONDO:0018887 name: obsolete rare cutaneous lupus erythematosus def: "OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." [Orphanet:535] subset: disease_grouping +subset: gard_rare {source="GARD:6225"} subset: ordo_group_of_disorders {source="Orphanet:535"} synonym: "rare cutaneous lupus erythematosus" EXACT [MONDO:patterns/rare] +xref: GARD:6225 {source="Orphanet:535", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L93.0 {source="Orphanet:535", source="Orphanet:535/btnt"} xref: ICD10CM:L93.1 {source="Orphanet:535", source="Orphanet:535/btnt"} xref: ICD10CM:L93.2 {source="Orphanet:535", source="Orphanet:535/btnt"} @@ -362061,6 +378066,8 @@ replaced_by: MONDO:0005282 [Term] id: MONDO:0018888 name: obsolete congenital cornea plana +subset: gard_rare {source="GARD:16657"} +xref: GARD:16657 {source="MONDO:obsoleteEquivalent", source="Orphanet:53691"} xref: ICD10CM:Q13.4 {source="Orphanet:53691/attributed", source="Orphanet:53691/ntbt", source="Orphanet:53691"} xref: Orphanet:53691 {source="MONDO:obsoleteEquivalent"} property_value: confidence "19.99999999999998" xsd:double @@ -362074,9 +378081,11 @@ is_obsolete: true [Term] id: MONDO:0018889 name: hyaline body myopathy +subset: gard_rare {source="GARD:7148"} subset: ordo_disease {source="Orphanet:53698"} synonym: "myosin storage myopathy" EXACT [GARD:0007148, PMID:17118657] xref: DOID:0111267 {source="MONDO:equivalentTo"} +xref: GARD:7148 {source="Orphanet:53698"} xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} is_a: MONDO:0016195 {source="Orphanet:209185"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) @@ -362088,7 +378097,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018890 name: Lyell syndrome def: "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." [Orphanet:537] +subset: gard_rare {source="GARD:18696"} subset: ordo_clinical_subtype {source="Orphanet:537"} +xref: GARD:18696 {source="Orphanet:537"} xref: ICD10CM:L51.2 {source="Orphanet:537/ntbt", source="Orphanet:537"} xref: Orphanet:537 {source="MONDO:equivalentTo"} xref: UMLS:C0014518 {source="Orphanet:537"} @@ -362099,8 +378110,9 @@ is_a: MONDO:0019810 {source="Orphanet:537"} ! toxic epidermal necrolysis id: MONDO:0018891 name: familial tumoral calcinosis def: "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." [Orphanet:53715] -subset: gard_rare {source="GARD:0010877"} +subset: gard_rare {source="GARD:10877"} subset: ordo_disease {source="Orphanet:53715"} +xref: GARD:10877 {source="Orphanet:53715"} xref: ICD10CM:M11.2 {source="Orphanet:53715", source="Orphanet:53715/attributed", source="Orphanet:53715/ntbt"} xref: MedDRA:10059364 {source="Orphanet:53715", source="Orphanet:53715/e"} xref: Orphanet:53715 {source="MONDO:equivalentTo"} @@ -362117,6 +378129,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10877/famili id: MONDO:0018892 name: Wyburn-Mason syndrome def: "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." [Orphanet:53719] +subset: gard_rare {source="GARD:7900"} subset: ordo_malformation_syndrome {source="Orphanet:53719"} synonym: "arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" RELATED [GARD:0007900] synonym: "bonnet-Decaume-Blanc syndrome" RELATED [GARD:0007900] @@ -362125,6 +378138,7 @@ synonym: "CAMS2" EXACT ABBREVIATION [Orphanet:53719] synonym: "Cerebrofacial arteriovenous metameric syndrome type 2" EXACT [Orphanet:53719] synonym: "Wyburn Mason syndrome" RELATED [GARD:0007900] synonym: "Wyburn Mason's syndrome" RELATED [GARD:0007900] +xref: GARD:7900 {source="Orphanet:53719"} xref: ICD10CM:Q28.2 {source="Orphanet:53719/attributed", source="Orphanet:53719/ntbt", source="Orphanet:53719"} xref: MedDRA:10048661 {source="Orphanet:53719/e", source="Orphanet:53719"} xref: MESH:C536752 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"} @@ -362140,12 +378154,13 @@ is_a: MONDO:0042983 {source="MESH:C536752", source="Wikipedia:Phakomatosis"} ! n id: MONDO:0018893 name: Cobb syndrome def: "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." [Orphanet:53721] -subset: gard_rare {source="GARD:0011892"} +subset: gard_rare {source="GARD:11892"} subset: ordo_malformation_syndrome {source="Orphanet:53721"} synonym: "Cobb's syndrome" EXACT [NCIT:C4485] synonym: "cutaneomeningospinal angiomatosis" EXACT [Orphanet:53721] synonym: "SAMS 1-31" EXACT [Orphanet:53721] synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721] +xref: GARD:11892 {source="Orphanet:53721"} xref: ICD10CM:Q27.3 {source="Orphanet:53721/ntbt", source="Orphanet:53721"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068841 {source="Orphanet:53721", source="Orphanet:53721/e"} @@ -362163,11 +378178,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11892/cobb-s id: MONDO:0018894 name: distal hereditary motor neuropathy subset: disease_grouping -subset: gard_rare {source="GARD:0012683"} +subset: gard_rare {source="GARD:12683"} subset: ordo_group_of_disorders {source="Orphanet:53739"} synonym: "dHMN" EXACT [Orphanet:53739] synonym: "distal spinal muscular atrophy" EXACT [Orphanet:53739] synonym: "dSMA" EXACT [Orphanet:53739] +xref: GARD:12683 {source="Orphanet:53739"} xref: Orphanet:53739 {source="MONDO:equivalentTo"} xref: SCTID:230247001 {source="MONDO:equivalentTo"} xref: UMLS:C0393541 {source="Orphanet:53739/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53739"} @@ -362179,7 +378195,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12683/distal id: MONDO:0018895 name: Plummer-Vinson syndrome def: "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." [Orphanet:54028] -subset: gard_rare {source="GARD:0008259"} +subset: gard_rare {source="GARD:8259"} subset: ordo_disease {source="Orphanet:54028"} synonym: "dysphagia sideropenica" RELATED [GARD:0008259] synonym: "Kelly's syndrome" RELATED [GARD:0008259] @@ -362190,6 +378206,7 @@ synonym: "Paterson-Kelly syndrome" RELATED [GARD:0008259] synonym: "Paterson’s syndrome" RELATED [GARD:0008259] synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259] synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028] +xref: GARD:8259 {source="Orphanet:54028"} xref: ICD10CM:D50.1 {source="Orphanet:54028", source="Orphanet:54028/ntbt"} xref: ICD9:280.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040664 {source="Orphanet:54028", source="Orphanet:54028/e"} @@ -362207,12 +378224,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8259/plummer id: MONDO:0018896 name: thrombotic thrombocytopenic purpura def: "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." [Orphanet:54057] +subset: gard_rare {source="GARD:16659"} subset: ordo_disease {source="Orphanet:54057"} synonym: "Moschcowitz disease" EXACT [Orphanet:54057] synonym: "Moschcowitz's syndrome" EXACT [DOID:10772] synonym: "Moschowitz disease" EXACT [NCIT:C78797] synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057] xref: DOID:10772 {source="MONDO:equivalentTo"} +xref: GARD:16659 {source="Orphanet:54057"} xref: ICD10CM:M31.1 {source="Orphanet:54057/ntbt", source="Orphanet:54057", source="DOID:10772"} xref: MedDRA:10043648 {source="Orphanet:54057/e", source="Orphanet:54057"} xref: MESH:D011697 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="Orphanet:54057", source="DOID:10772"} @@ -362232,8 +378251,10 @@ is_a: MONDO:0043768 {source="MESH:D011697", source="NCIT:C78797"} ! thrombocytop id: MONDO:0018897 name: primary cutaneous CD30+ T-cell lymphoproliferative disease subset: disease_grouping +subset: gard_rare {source="GARD:18697"} subset: ordo_group_of_disorders {source="Orphanet:541"} synonym: "primary cutaneous Ki-1+ T-cell lymphoproliferative disease" EXACT [Orphanet:541] +xref: GARD:18697 {source="Orphanet:541"} xref: ICD10CM:C86.6 {source="Orphanet:541/e", source="Orphanet:541"} xref: MedDRA:10065863 {source="Orphanet:541/e", source="Orphanet:541"} xref: MESH:D054446 {source="Orphanet:541/e", source="Orphanet:541"} @@ -362248,10 +378269,12 @@ id: MONDO:0018898 name: primary cutaneous lymphoma def: "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." [Orphanet:542] subset: disease_grouping +subset: gard_rare {source="GARD:18698"} subset: ordo_group_of_disorders {source="Orphanet:542"} synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162] synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162] synonym: "primary skin lymphoma" EXACT [NCIT:C7162] +xref: GARD:18698 {source="Orphanet:542"} xref: MedDRA:10051708 {source="Orphanet:542/e", source="Orphanet:542"} xref: NCIT:C7162 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:542 {source="MONDO:equivalentTo"} @@ -362266,10 +378289,12 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:542"} ! obsole id: MONDO:0018899 name: posterior cortical atrophy def: "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." [Orphanet:54247] +subset: gard_rare {source="GARD:18846"} subset: ordo_disease {source="Orphanet:54247"} synonym: "Benson syndrome" EXACT [Orphanet:54247] synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247] synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247] +xref: GARD:18846 {source="Orphanet:54247"} xref: ICD10CM:G31.1 {source="Orphanet:54247/attributed", source="Orphanet:54247/ntbt", source="Orphanet:54247"} xref: Orphanet:54247 {source="MONDO:equivalentTo"} xref: SCTID:715574002 {source="MONDO:equivalentTo"} @@ -362281,11 +378306,13 @@ is_a: MONDO:0024237 {source="Orphanet:54247"} ! inherited neurodegenerative diso id: MONDO:0018900 name: corticosteroid-sensitive aseptic abscess syndrome def: "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." [Orphanet:54251] +subset: gard_rare {source="GARD:10946"} subset: ordo_disease {source="Orphanet:54251"} synonym: "aseptic abscesses syndrome" EXACT [Orphanet:54251] synonym: "aseptic systemic abscesses" EXACT [Orphanet:54251] synonym: "corticosteroid-sensitive aseptic abscesses" RELATED [GARD:0010946] synonym: "disseminated aseptic abscesses" EXACT [Orphanet:54251] +xref: GARD:10946 {source="Orphanet:54251"} xref: Orphanet:54251 {source="MONDO:equivalentTo"} xref: SCTID:720751000 {source="MONDO:equivalentTo"} xref: UMLS:CN205271 {source="MONDO:equivalentTo"} @@ -362295,7 +378322,7 @@ is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder id: MONDO:0018901 name: left ventricular noncompaction def: "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." [Orphanet:54260] -subset: gard_rare {source="GARD:0010985"} +subset: gard_rare {source="GARD:10985"} subset: ordo_disease {source="Orphanet:54260"} synonym: "left ventricular hypertrabeculation" EXACT [DOID:0060480, Orphanet:54260] synonym: "left ventricular non-compaction cardiomyopathy" EXACT [NCIT:C99544] @@ -362305,6 +378332,7 @@ synonym: "Lv non-compaction syndrome" EXACT [NCIT:C99544] synonym: "LVNC" EXACT ABBREVIATION [Orphanet:54260] synonym: "spongy myocardium" EXACT [Orphanet:54260] xref: DOID:0060480 {source="MONDO:equivalentTo"} +xref: GARD:10985 {source="Orphanet:54260"} xref: ICD10CM:I42.8 {source="Orphanet:54260", source="Orphanet:54260/attributed", source="Orphanet:54260/ntbt"} xref: NCIT:C99544 {source="MONDO:equivalentTo"} xref: OMIMPS:604169 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -362325,6 +378353,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10985/left-v id: MONDO:0018902 name: hepatocellular adenoma def: "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." [NCIT:C3758] +subset: gard_rare {source="GARD:18847"} subset: ordo_disease {source="Orphanet:54272"} synonym: "adenoma of liver cells" EXACT [NCIT:C3758] synonym: "adenoma of the liver cells" EXACT [NCIT:C3758] @@ -362335,6 +378364,7 @@ synonym: "LIAD" RELATED ABBREVIATION [ONCOTREE:LIAD] synonym: "liver cell adenoma" EXACT [NCIT:C3758] xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"} xref: EFO:0000762 {source="MONDO:equivalentTo"} +xref: GARD:18847 {source="Orphanet:54272"} xref: ICD10CM:D13.4 {source="Orphanet:54272/ntbt", source="Orphanet:54272"} xref: ICDO:8170/0 {source="NCIT:C3758"} xref: MedDRA:10019827 {source="Orphanet:54272/e", source="Orphanet:54272"} @@ -362354,10 +378384,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare id: MONDO:0018903 name: sarcocystosis def: "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." [MESH:D012523] +subset: gard_rare {source="GARD:18848"} subset: ordo_disease {source="Orphanet:54368"} synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM:136.5, Orphanet:54368] xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"} xref: EFO:0007476 {source="MONDO:equivalentTo"} +xref: GARD:18848 {source="Orphanet:54368"} xref: ICD10CM:A07.8 {source="Orphanet:54368/ntbt", source="Orphanet:54368", source="DOID:9640"} xref: ICD9:136.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9640"} xref: MedDRA:10039483 {source="Orphanet:54368", source="Orphanet:54368/e"} @@ -362376,10 +378408,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare id: MONDO:0018904 name: primary membranoproliferative glomerulonephritis def: "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." [Orphanet:54370] +subset: gard_rare {source="GARD:11982"} subset: ordo_disease {source="Orphanet:54370"} synonym: "membranoproliferative glomerulonephritis" RELATED [NCIT:C34644] synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370] synonym: "MPGN" EXACT ABBREVIATION [Orphanet:54370] +xref: GARD:11982 {source="Orphanet:54370"} xref: ICD10CM:N00.5 {source="Orphanet:54370/inclusion", source="Orphanet:54370", source="Orphanet:54370/ntbt"} xref: ICD9:583.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10018370 {source="Orphanet:54370", source="Orphanet:54370/e"} @@ -362394,12 +378428,13 @@ id: MONDO:0018905 name: diffuse large B-cell lymphoma def: "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." [Orphanet:544] subset: disease_grouping -subset: gard_rare {source="GARD:0003178"} +subset: gard_rare {source="GARD:3178"} subset: ordo_group_of_disorders {source="Orphanet:544"} synonym: "diffuse large B-cell lymphoma" EXACT [MONDO:0005018, NCIT:C8851] synonym: "DLBCL" EXACT ABBREVIATION [NCIT:C8851, Orphanet:544] xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: EFO:0000403 {source="MONDO:equivalentTo"} +xref: GARD:3178 {source="Orphanet:544"} xref: ICD10CM:C83.3 {source="Orphanet:544", source="Orphanet:544/e"} xref: ICD9:200.7 {source="EFO:0000403"} xref: ICDO:9680/3 {source="NCIT:C8851"} @@ -362416,7 +378451,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3178/diffuse id: MONDO:0018906 name: follicular lymphoma def: "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." [Orphanet:545] -subset: gard_rare {source="GARD:0002356"} +subset: gard_rare {source="GARD:2356"} subset: ordo_disease {source="Orphanet:545"} synonym: "follicle center lymphoma" EXACT [NCIT:C3209] synonym: "follicle centre lymphoma" EXACT OMO:0003005 [] @@ -362429,6 +378464,7 @@ synonym: "lymphoma, follicular center cell" EXACT [NCIT:C3209] synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 [] synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209] xref: DOID:0050873 {source="MONDO:equivalentTo"} +xref: GARD:2356 {source="Orphanet:545"} xref: HGNC:990 {source="GARD:0002356"} xref: ICD10CM:C82.0 {source="Orphanet:545/btnt", source="Orphanet:545"} xref: ICD10CM:C82.1 {source="Orphanet:545/btnt", source="Orphanet:545"} @@ -362454,6 +378490,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2356/follicu id: MONDO:0018907 name: craniopharyngioma def: "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" [NCIT:C2964] +subset: gard_rare {source="GARD:10486"} subset: ordo_disease {source="Orphanet:54595"} synonym: "Adamantinomatous tumor" RELATED [GARD:0010486] synonym: "Adamantinomatous tumour" RELATED OMO:0003005 [] @@ -362476,6 +378513,7 @@ synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964] synonym: "tumour of Rathke's pouch" EXACT OMO:0003005 [] xref: DOID:3840 {source="MONDO:equivalentTo"} xref: EFO:1000209 {source="MONDO:equivalentTo"} +xref: GARD:10486 {source="Orphanet:54595"} xref: ICD10CM:D44.4 {source="Orphanet:54595/specific", source="Orphanet:54595/e", source="Orphanet:54595"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9350/1 {source="NCIT:C2964"} @@ -362502,6 +378540,7 @@ id: MONDO:0018908 name: non-Hodgkin lymphoma def: "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." [NCIT:C3211] subset: disease_grouping +subset: gard_rare {source="GARD:11953"} subset: ordo_group_of_disorders {source="Orphanet:547"} synonym: "NHL" EXACT ABBREVIATION [NCIT:C3211, Orphanet:547] synonym: "NHL, NOS" RELATED EXCLUDE [NCIT:C3211] @@ -362512,6 +378551,7 @@ synonym: "non-Hodgkin's lymphoma (NHL)" EXACT [NCIT:C3211] synonym: "non-Hodgkins lymphoma" EXACT [MONDO:0005587] xref: DOID:0060060 {source="EFO:0005952", source="MONDO:equivalentTo"} xref: EFO:0005952 {source="MONDO:equivalentTo"} +xref: GARD:11953 {source="Orphanet:547"} xref: ICDO:9591/3 {source="NCIT:C3211"} xref: MedDRA:10029547 {source="Orphanet:547", source="Orphanet:547/e"} xref: MESH:D008228 {source="Orphanet:547", source="MONDO:equivalentTo", source="Orphanet:547/e"} @@ -362532,13 +378572,14 @@ id: MONDO:0018910 name: oculocutaneous albinism def: "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." [Orphanet:55] subset: disease_grouping -subset: gard_rare {source="GARD:0010958"} +subset: gard_rare {source="GARD:10958"} subset: ordo_group_of_disorders {source="Orphanet:55"} synonym: "albinism, oculocutaneous" RELATED [GARD:0010958] synonym: "non-syndromic oculocutaneous albinism" EXACT [] synonym: "nonsyndromic oculocutaneous albinism" EXACT [https://github.com/monarch-initiative/mondo/issues/641] synonym: "OCA" EXACT ABBREVIATION [Orphanet:55] xref: DOID:0050632 {source="MONDO:equivalentTo"} +xref: GARD:10958 {source="Orphanet:55"} xref: ICD10CM:E70.3 {source="Orphanet:55/ntbt", source="Orphanet:55", source="DOID:0050632", source="Orphanet:55/inclusion"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016115 {source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} @@ -362557,6 +378598,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10958/oculoc id: MONDO:0018911 name: maturity-onset diabetes of the young def: "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." [Orphanet:552] +subset: gard_rare {source="GARD:15392", source="GARD:3697"} subset: ordo_disease {source="Orphanet:552"} synonym: "Mason type diabetes" RELATED [GARD:0003697] synonym: "Mason-type diabetes" EXACT [DOID:0050524] @@ -362565,6 +378607,8 @@ synonym: "maturity-onset diabetes of the young" EXACT CLINGEN_PREFERRED [MONDO:a synonym: "maturity-onset diabetes of the young (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "MODY" EXACT ABBREVIATION [DOID:0050524, MONDO:Lexical, OMIM:606391] xref: DOID:0050524 {source="MONDO:equivalentTo"} +xref: GARD:15392 {source="OMIM:606391"} +xref: GARD:3697 {source="Orphanet:552"} xref: HP:0004904 {source="MONDO:otherHierarchy"} xref: ICD10CM:E11.8 {source="DOID:0050524"} xref: ICD10CM:E11.9 {source="Orphanet:552/attributed", source="Orphanet:552/ntbt", source="Orphanet:552"} @@ -362588,6 +378632,7 @@ name: Cushing syndrome def: "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." [Orphanet:553] comment: Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form subset: disease_grouping +subset: gard_rare {source="GARD:6224"} subset: ordo_group_of_disorders {source="Orphanet:553"} synonym: "adrenal hyperfunction resulting from pituitary ACTH excess" RELATED [GARD:0006224] synonym: "cortisol Excess" EXACT [NCIT:C2969] @@ -362601,6 +378646,7 @@ synonym: "pituitary basophilism" EXACT [DOID:12252] synonym: "suprarenogenic syndrome" EXACT [DOID:12252] xref: DOID:12252 {source="EFO:0003099", source="MONDO:obsolete"} xref: EFO:0003099 {source="MONDO:equivalentTo"} +xref: GARD:6224 {source="Orphanet:553"} xref: ICD10CM:E24 {source="MONDO:equivalentTo", source="DOID:12252"} xref: ICD10CM:E24.0 {source="Orphanet:553/btnt", source="Orphanet:553"} xref: ICD10CM:E24.1 {source="Orphanet:553/btnt", source="Orphanet:553"} @@ -362632,10 +378678,11 @@ relationship: realized_in_response_to ECTO:0000259 ! exposure to glucocorticoid id: MONDO:0018913 name: malakoplakia def: "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." [Orphanet:556] -subset: gard_rare {source="GARD:0006960"} +subset: gard_rare {source="GARD:6960"} subset: ordo_disease {source="Orphanet:556"} synonym: "malacoplakia" RELATED [GARD:0006960] xref: EFO:1001807 {source="MONDO:equivalentTo"} +xref: GARD:6960 {source="Orphanet:556"} xref: MESH:D008287 {source="MONDO:equivalentTo"} xref: NCIT:C84833 {source="MONDO:equivalentTo"} xref: Orphanet:556 {source="MONDO:equivalentTo"} @@ -362649,8 +378696,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6960/malakop id: MONDO:0018914 name: hypotrichosis simplex def: "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." [Orphanet:55654] +subset: gard_rare {source="GARD:9170"} subset: ordo_disease {source="Orphanet:55654"} synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654] +xref: GARD:9170 {source="Orphanet:55654"} xref: ICD10CM:L65.8 {source="Orphanet:55654", source="Orphanet:55654/attributed", source="Orphanet:55654/ntbt"} xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"} xref: Orphanet:55654 {source="MONDO:equivalentTo"} @@ -362669,7 +378718,9 @@ replaced_by: MONDO:0006913 id: MONDO:0018916 name: obsolete isolated anorectal malformation def: "OBSOLETE. Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." [Orphanet:557] +subset: gard_rare {source="GARD:16534"} synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated] +xref: GARD:16534 {source="Orphanet:557", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q42.0 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} xref: ICD10CM:Q42.1 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} xref: ICD10CM:Q42.2 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} @@ -362693,8 +378744,10 @@ id: MONDO:0018918 name: carcinoma of gallbladder and extrahepatic biliary tract def: "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." [Orphanet:56044] subset: disease_grouping +subset: gard_rare {source="GARD:18850"} subset: ordo_group_of_disorders {source="Orphanet:56044"} synonym: "carcinoma of gallbladder and EBT" EXACT [Orphanet:56044] +xref: GARD:18850 {source="Orphanet:56044"} xref: MedDRA:10007426 {source="Orphanet:56044/e", source="Orphanet:56044"} xref: Orphanet:56044 {source="MONDO:equivalentTo"} xref: UMLS:C0153452 {source="MONDO:relatedTo", source="Orphanet:56044"} @@ -362707,6 +378760,7 @@ is_a: MONDO:0021385 {source="MONDO:0017631-obsoleted"} ! extrahepatic bile duct id: MONDO:0018919 name: McCune-Albright syndrome def: "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP)." [Orphanet:562] +subset: gard_rare {source="GARD:6995"} subset: ordo_disease {source="Orphanet:562"} synonym: "Albright's disease" EXACT [GARD:0006995] synonym: "gonadotropin-independent female-limited sexual precocity" EXACT [Orphanet:562] @@ -362717,6 +378771,7 @@ synonym: "PFD" RELATED ABBREVIATION [GARD:0006995] synonym: "POFD" RELATED ABBREVIATION [GARD:0006995] synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800] xref: DOID:1858 {source="MONDO:equivalentTo"} +xref: GARD:6995 {source="Orphanet:562"} xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"} xref: MESH:D005357 {source="DOID:1858"} xref: MESH:D005359 {source="Orphanet:562/e", source="MONDO:relatedTo", source="Orphanet:562"} @@ -362745,7 +378800,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018920 name: peripartum cardiomyopathy def: "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." [Orphanet:563] -subset: gard_rare +subset: gard_rare {source="GARD:220"} subset: ordo_disease {source="Orphanet:563"} synonym: "antepartum peripartum cardiomyopathy" EXACT [DOID:9997] synonym: "Meadows' syndrome" RELATED [GARD:0000220] @@ -362754,6 +378809,7 @@ synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, Orphanet:563] synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997] xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"} xref: EFO:0002628 {source="MONDO:equivalentTo"} +xref: GARD:220 {source="Orphanet:563"} xref: ICD10CM:O90.3 {source="DOID:9997", source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"} xref: ICD9:674.5 {source="DOID:9997", source="EFO:0002628"} xref: ICD9:674.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -362773,9 +378829,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare id: MONDO:0018921 name: Meckel syndrome def: "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." [https://orcid.org/0000-0001-5208-3432, Orphanet:564] +subset: gard_rare {source="GARD:3436"} subset: ordo_malformation_syndrome {source="Orphanet:564"} synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564] xref: DOID:0050778 {source="MONDO:equivalentTo"} +xref: GARD:3436 {source="Orphanet:564"} xref: ICD10CM:Q61.9 {source="Orphanet:564/ntbt", source="Orphanet:564/inclusion", source="Orphanet:564"} xref: ICD9:753.1 {source="DOID:0050778"} xref: ICD9:753.10 {source="DOID:0050778"} @@ -362808,6 +378866,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249000"} ! inheri id: MONDO:0018922 name: cold agglutinin disease def: "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." [Orphanet:56425] +subset: gard_rare {source="GARD:6130"} subset: ordo_disease {source="Orphanet:56425"} synonym: "anemia, hemolytic, cold antibody" RELATED [GARD:0006130] synonym: "CAD" EXACT ABBREVIATION [Orphanet:56425] @@ -362817,6 +378876,7 @@ synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425] synonym: "cold antibody disease" RELATED [GARD:0006130] synonym: "cold antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130] +xref: GARD:6130 {source="Orphanet:56425"} xref: ICD10CM:D59.1 {source="Orphanet:56425/ntbt", source="Orphanet:56425"} xref: Orphanet:56425 {source="MONDO:equivalentTo"} xref: SCTID:127055007 {source="MONDO:equivalentTo"} @@ -362829,6 +378889,7 @@ is_a: MONDO:0016450 {source="Orphanet:56425"} ! autoimmune hemolytic anemia, col id: MONDO:0018923 name: 22q11.2 deletion syndrome def: "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." [Orphanet:567] +subset: gard_rare {source="GARD:10299"} subset: ordo_malformation_syndrome {source="Orphanet:567"} synonym: "22q11DS" EXACT [Orphanet:567] synonym: "catch 22" EXACT [Orphanet:567] @@ -362844,6 +378905,7 @@ synonym: "Takao syndrome" EXACT [Orphanet:567] synonym: "VCFS" RELATED ABBREVIATION [GARD:0010299] synonym: "velocardiofacial syndrome" RELATED [Orphanet:567] xref: DECIPHER:16 {source="MONDO:equivalentTo"} +xref: GARD:10299 {source="Orphanet:567"} xref: ICD10CM:D82.1 {source="Orphanet:567", source="Orphanet:567/e", source="Orphanet:567/specific"} xref: MedDRA:10012979 {source="Orphanet:567", source="Orphanet:567/e"} xref: MedDRA:10066430 {source="Orphanet:567", source="Orphanet:567/e"} @@ -362871,7 +378933,7 @@ id: MONDO:0018924 name: microphthalmia, Lenz type def: "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." [Orphanet:568] comment: Editors note: TODO check -subset: gard_rare +subset: gard_rare {source="GARD:87"} subset: ordo_malformation_syndrome {source="Orphanet:568"} synonym: "Lenz dysplasia" RELATED [GARD:0000087] synonym: "Lenz microphthalmia" EXACT [Orphanet:568] @@ -362882,6 +378944,7 @@ synonym: "microphthalmia Lenz type" RELATED [GARD:0000087] synonym: "microphthalmia or anophthalmos with associated anomalies (formerly)" RELATED [GARD:0000087] synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087] synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087] +xref: GARD:87 {source="Orphanet:568"} xref: ICD10CM:Q11.2 {source="Orphanet:568", source="Orphanet:568/attributed", source="Orphanet:568/ntbt"} xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"} xref: UMLS:C0796016 {source="GARD:0000087", source="Orphanet:568", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:568/e"} @@ -362897,10 +378960,11 @@ property_value: confidence "1.964285714285714" xsd:double id: MONDO:0018925 name: familial or sporadic hemiplegic migraine def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569] -subset: gard_rare +subset: gard_rare {source="GARD:10768"} subset: ordo_disease {source="Orphanet:569"} synonym: "familial or sporadic hemiplegic migraine" EXACT CLINGEN_PREFERRED [] synonym: "hemiplegic migraine" EXACT [MONDO:0023310] +xref: GARD:10768 {source="Orphanet:569"} xref: ICD10CM:G43.1 {source="Orphanet:569/inclusion", source="Orphanet:569/ntbt", source="Orphanet:569"} xref: ICD9:346.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:569 {source="MONDO:equivalentTo", source="GARD:0010768"} @@ -362916,9 +378980,11 @@ id: MONDO:0018926 name: human prion disease def: "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." [Orphanet:56970] subset: disease_grouping +subset: gard_rare {source="GARD:18851"} subset: ordo_group_of_disorders {source="Orphanet:56970"} synonym: "transmissible spongiform encephalopathy" EXACT [Orphanet:56970] synonym: "TSE" EXACT ABBREVIATION [Orphanet:56970] +xref: GARD:18851 {source="Orphanet:56970"} xref: ICD10CM:A81.0 {source="Orphanet:56970/btnt", source="Orphanet:56970"} xref: ICD10CM:A81.1 {source="MONDO:relatedTo", source="Orphanet:56970/btnt", source="Orphanet:56970"} xref: ICD10CM:A81.8 {source="Orphanet:56970/btnt", source="Orphanet:56970"} @@ -362932,10 +378998,12 @@ is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018927 name: SUNCT syndrome def: "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." [Orphanet:57145] +subset: gard_rare {source="GARD:9257"} subset: ordo_disease {source="Orphanet:57145"} synonym: "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing" EXACT [Orphanet:57145] synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" EXACT [GARD:0009257] synonym: "SUNCT headache" EXACT [GARD:0009257] +xref: GARD:9257 {source="Orphanet:57145"} xref: ICD10CM:G44.8 {source="Orphanet:57145/ntbt", source="Orphanet:57145"} xref: MedDRA:10061981 {source="Orphanet:57145/e", source="Orphanet:57145"} xref: MESH:D050798 {source="Orphanet:57145/e", source="MONDO:equivalentTo", source="Orphanet:57145"} @@ -362951,8 +379019,10 @@ id: MONDO:0018928 name: obsolete rare hepatic disease def: "OBSOLETE. Rare liver disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22506"} subset: ordo_group_of_disorders {source="Orphanet:57146"} synonym: "rare liver disease" EXACT [MONDO:patterns/rare] +xref: GARD:22506 {source="MONDO:obsoleteEquivalent", source="Orphanet:57146"} xref: Orphanet:57146 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205315 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -362962,10 +379032,12 @@ replaced_by: MONDO:0005154 [Term] id: MONDO:0018929 name: medial condensing osteitis of the clavicle +subset: gard_rare {source="GARD:10910"} subset: ordo_disease {source="Orphanet:57196"} synonym: "condensing osteitis of the clavicle" EXACT [GARD:0010910] synonym: "condensing osteitis of the medial clavicle" EXACT [GARD:0010910] synonym: "osteitis condensans of the clavicle" EXACT [Orphanet:57196] +xref: GARD:10910 {source="Orphanet:57196"} xref: ICD10CM:M85.3 {source="Orphanet:57196", source="Orphanet:57196/ntbt"} xref: Orphanet:57196 {source="MONDO:equivalentTo"} xref: UMLS:CN230280 {source="MONDO:equivalentTo"} @@ -362975,6 +379047,7 @@ is_a: MONDO:0018381 {source="Orphanet:57196"} ! osteochondrosis id: MONDO:0018930 name: monosomy 21 def: "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." [Orphanet:574] +subset: gard_rare {source="GARD:10860"} subset: ordo_malformation_syndrome {source="Orphanet:574"} synonym: "21q deletion" RELATED [GARD:0010860] synonym: "21q deletion syndrome" EXACT [Orphanet:574] @@ -362986,6 +379059,7 @@ synonym: "monosomy 21q" RELATED [GARD:0010860] synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574] synonym: "partial 21q monosomy" EXACT [Orphanet:574] synonym: "partial monosomy 21q" RELATED [GARD:0010860] +xref: GARD:10860 {source="Orphanet:574"} xref: ICD10CM:Q93.0 {source="Orphanet:574/attributed", source="Orphanet:574/ntbt", source="Orphanet:574"} xref: MESH:C537108 {source="MONDO:equivalentTo"} xref: NCIT:C36469 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} @@ -362999,7 +379073,7 @@ relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:574"} ! obsole id: MONDO:0018931 name: mucolipidosis type III, alpha/beta def: "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." [Orphanet:423461, PMID:6461005] -subset: gard_rare +subset: gard_rare {source="GARD:17704", source="GARD:3806"} subset: ordo_clinical_subtype {source="Orphanet:423461"} subset: ordo_disease {source="Orphanet:577"} synonym: "ML 3" BROAD [OMIM:252600] @@ -363021,6 +379095,8 @@ synonym: "mucolipidosis type III" EXACT [Orphanet:577] synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461] synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577] xref: DOID:0080071 {source="MONDO:equivalentTo"} +xref: GARD:17704 {source="Orphanet:423461"} +xref: GARD:3806 {source="Orphanet:577"} xref: ICD10CM:E77.0 {source="Orphanet:577", source="Orphanet:577/ntbt", source="Orphanet:423461/attributed", source="Orphanet:423461/ntbt", source="Orphanet:423461", source="Orphanet:577/inclusion"} xref: OMIM:252600 {source="Orphanet:577", source="Orphanet:577/btnt", source="MONDO:equivalentTo", source="DOID:0080071", source="GARD:0003806", source="Orphanet:423461"} xref: Orphanet:423461 {source="MONDO:equivalentTo", source="OMIM:252600"} @@ -363044,7 +379120,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3806/mucolip id: MONDO:0018932 name: cirrhotic cardiomyopathy def: "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." [Orphanet:57777] +subset: gard_rare {source="GARD:18852"} subset: ordo_disease {source="Orphanet:57777"} +xref: GARD:18852 {source="Orphanet:57777"} xref: ICD10CM:I42.8 {source="Orphanet:57777", source="Orphanet:57777/ntbt"} xref: Orphanet:57777 {source="MONDO:equivalentTo"} xref: SCTID:725416005 {source="MONDO:equivalentTo"} @@ -363057,8 +379135,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare id: MONDO:0018933 name: Mazabraud syndrome def: "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." [Orphanet:57782] +subset: gard_rare {source="GARD:18853"} subset: ordo_malformation_syndrome {source="Orphanet:57782"} synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782] +xref: GARD:18853 {source="Orphanet:57782"} xref: ICD10CM:M85.0 {source="Orphanet:57782", source="Orphanet:57782/attributed", source="Orphanet:57782/ntbt"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -363081,6 +379161,7 @@ replaced_by: MONDO:0001586 id: MONDO:0018935 name: hairy cell leukemia def: "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." [Orphanet:58017] +subset: gard_rare {source="GARD:6560"} subset: ordo_disease {source="Orphanet:58017"} synonym: "classic hairy cell leukaemia" RELATED OMO:0003005 [] synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017] @@ -363090,6 +379171,7 @@ synonym: "HCL-C" EXACT [Orphanet:58017] synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017] xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"} xref: EFO:1000956 {source="MONDO:equivalentTo"} +xref: GARD:6560 {source="Orphanet:58017"} xref: ICD10CM:C91.4 {source="Orphanet:58017/ntbt", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"} xref: ICD10CM:C91.40 {source="DOID:285"} xref: ICD9:202.4 {source="DOID:285"} @@ -363117,6 +379199,7 @@ is_a: MONDO:0017594 {source="MONDO:Redundant", source="Orphanet:58017"} ! indole id: MONDO:0018936 name: osteoblastoma def: "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." [NCIT:P378] +subset: gard_rare {source="GARD:18854"} subset: ordo_disease {source="Orphanet:58040"} synonym: "giant osteoid osteoma" EXACT [NCIT:C3294] synonym: "ossifying giant cell tumor" EXACT [NCIT:C3294] @@ -363126,6 +379209,7 @@ synonym: "osteoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteoblastoma, benign" EXACT [NCIT:C3294] xref: DOID:0060098 {source="MONDO:equivalentTo"} xref: EFO:1000410 {source="MONDO:equivalentTo"} +xref: GARD:18854 {source="Orphanet:58040"} xref: HP:0011846 {source="MONDO:otherHierarchy"} xref: ICD10CM:D16.0 {source="Orphanet:58040/btnt", source="Orphanet:58040"} xref: ICD10CM:D16.1 {source="Orphanet:58040/btnt", source="Orphanet:58040"} @@ -363149,6 +379233,7 @@ property_value: IAO:0000589 "osteoblastoma (disease)" xsd:string id: MONDO:0018937 name: mucopolysaccharidosis type 3 def: "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration." [Orphanet:581] +subset: gard_rare {source="GARD:3807"} subset: ordo_disease {source="Orphanet:581"} synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801] synonym: "heparan sulphate sulfatase deficiency" EXACT OMO:0003005 [] @@ -363174,6 +379259,7 @@ synonym: "Sanfilippo syndrome A" NARROW [DOID:12801] synonym: "Sanfilippo syndrome B" NARROW [DOID:12801] synonym: "Sanfilippo's syndrome" EXACT [DOID:12801] xref: DOID:12801 {source="MONDO:equivalentTo"} +xref: GARD:3807 {source="Orphanet:581"} xref: ICD10CM:E76.2 {source="Orphanet:581/inclusion", source="Orphanet:581/ntbt", source="Orphanet:581"} xref: ICD10CM:E76.22 {source="DOID:12801"} xref: MedDRA:10056890 {source="Orphanet:581/e", source="Orphanet:581"} @@ -363202,6 +379288,7 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0018938 name: mucopolysaccharidosis type 4 def: "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." [Orphanet:582] +subset: gard_rare {source="GARD:12562"} subset: ordo_disease {source="Orphanet:582"} synonym: "chondroosteodystrophy" NARROW [DOID:12804] synonym: "deficiency of chondroitinsulphatase" EXACT [DOID:12804] @@ -363224,6 +379311,7 @@ synonym: "mucopolysaccharidosis, MPS-IV" EXACT [DOID:12804] synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804] synonym: "Osteochondrodystrophy" NARROW [DOID:12804] xref: DOID:12804 {source="MONDO:equivalentTo"} +xref: GARD:12562 {source="Orphanet:582"} xref: ICD10CM:E76.2 {source="Orphanet:582/inclusion", source="Orphanet:582", source="Orphanet:582/ntbt"} xref: ICD10CM:E76.210 {source="DOID:12804"} xref: ICD10CM:E76.219 {source="DOID:12804"} @@ -363252,7 +379340,7 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0018939 name: muscle-eye-brain disease def: "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." [Orphanet:588] -subset: gard_rare {source="GARD:0000156"} +subset: gard_rare {source="GARD:156"} subset: ordo_disease {source="Orphanet:588"} synonym: "MEB" RELATED ABBREVIATION [GARD:0000156] synonym: "MEB syndrome" EXACT [Orphanet:588] @@ -363260,6 +379348,7 @@ synonym: "muscle eye brain disease" RELATED [GARD:0000156] synonym: "muscle-eye-brain syndrome" EXACT [Orphanet:588] synonym: "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" NARROW [GARD:0000156] synonym: "Santavuori congenital muscular dystrophy" EXACT [Orphanet:588] +xref: GARD:156 {source="Orphanet:588"} xref: ICD10CM:Q04.3 {source="Orphanet:588", source="Orphanet:588/attributed", source="Orphanet:588/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:588 {source="MONDO:equivalentTo"} @@ -363280,7 +379369,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/156/muscle-e id: MONDO:0018940 name: congenital myasthenic syndrome def: "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." [Orphanet:590] -subset: gard_rare {source="GARD:0011902"} +subset: gard_rare {source="GARD:11902"} subset: ordo_disease {source="Orphanet:590"} synonym: "CMS" EXACT ABBREVIATION [Orphanet:590] synonym: "congenital MG" RELATED [GARD:0000098] @@ -363291,6 +379380,7 @@ synonym: "myasthenia gravis congenital" RELATED [GARD:0000098] synonym: "myasthenia gravis pseudoparalytica" RELATED [GARD:0000098] synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462] xref: DOID:3635 {source="MONDO:equivalentTo"} +xref: GARD:11902 {source="Orphanet:590"} xref: ICD10CM:G70.2 {source="Orphanet:590/specific", source="Orphanet:590", source="Orphanet:590/e"} xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:V17.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -363314,9 +379404,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11902/congen id: MONDO:0018941 name: furuncular myiasis def: "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." [Orphanet:591] +subset: gard_rare {source="GARD:2418"} subset: ordo_disease {source="Orphanet:591"} synonym: "furunculoid myiasis" EXACT [Orphanet:591] synonym: "furunculous myiasis" EXACT [Orphanet:591] +xref: GARD:2418 {source="Orphanet:591"} xref: ICD10CM:B87.0 {source="Orphanet:591", source="Orphanet:591/ntbt"} xref: MESH:C538194 {source="MONDO:equivalentTo"} xref: Orphanet:591 {source="MONDO:equivalentTo"} @@ -363326,10 +379418,11 @@ is_a: MONDO:0020568 {source="Orphanet:591"} ! cutaneous myiasis [Term] id: MONDO:0018942 name: macrophagic myofasciitis -subset: gard_rare {source="GARD:0000176"} +subset: gard_rare {source="GARD:176"} subset: ordo_disease {source="Orphanet:592"} synonym: "Macrophagic myofasciitis, childhood" RELATED [GARD:0000176] synonym: "MMF" EXACT ABBREVIATION [Orphanet:592] +xref: GARD:176 {source="Orphanet:592"} xref: ICD10CM:M60.8 {source="Orphanet:592/ntbt", source="Orphanet:592"} xref: MESH:C537829 {source="Orphanet:592/e", source="MONDO:equivalentTo", source="Orphanet:592"} xref: Orphanet:592 {source="MONDO:equivalentTo"} @@ -363344,6 +379437,7 @@ name: myofibrillar myopathy def: "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." [Orphanet:593] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:10529"} subset: ordo_group_of_disorders {source="Orphanet:593"} synonym: "Alpha Beta crystallinopathy (type)" RELATED [GARD:0010529] synonym: "desmin related myopathy (former name)" RELATED [GARD:0010529] @@ -363357,6 +379451,7 @@ synonym: "myotilinopathy (type)" RELATED [GARD:0010529] synonym: "Protein surplus myopathy (former name)" RELATED [GARD:0010529] synonym: "Zaspopathy (type)" RELATED [GARD:0010529] xref: DOID:0080307 {source="MONDO:equivalentTo"} +xref: GARD:10529 {source="Orphanet:593"} xref: HP:0003715 {source="MONDO:otherHierarchy"} xref: ICD10CM:G71.8 {source="Orphanet:593", source="Orphanet:593/attributed", source="Orphanet:593/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -363376,6 +379471,7 @@ id: MONDO:0018944 name: gestational trophoblastic neoplasm def: "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." [NCIT:C4699] subset: disease_grouping +subset: gard_rare {source="GARD:6498"} subset: ordo_group_of_disorders {source="Orphanet:59305"} synonym: "gestational trophoblastic disease" BROAD [NCIT:C4699] synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699] @@ -363386,6 +379482,7 @@ synonym: "GTT" EXACT ABBREVIATION [NCIT:C4699] synonym: "hydatidiform mole" RELATED [DOID:3590] synonym: "molar pregnancy" RELATED [DOID:3590, NCIT:C3110] xref: DOID:3590 {source="MONDO:equivalentTo"} +xref: GARD:6498 {source="Orphanet:59305"} xref: ICD10CM:O01 {source="DOID:3590"} xref: ICD10CM:O01.0 {source="DOID:3590"} xref: ICD10CM:O01.9 {source="DOID:3590"} @@ -363425,7 +379522,7 @@ is_a: MONDO:0024575 {source="NCIT:C4699"} ! pregnancy disorder id: MONDO:0018945 name: McLeod neuroacanthocytosis syndrome def: "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." [Orphanet:59306] -subset: gard_rare {source="GARD:0010731"} +subset: gard_rare {source="GARD:10731"} subset: ordo_disease {source="Orphanet:59306"} synonym: "MCLDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300842] synonym: "McLeod phenotype" RELATED [OMIM:300842] @@ -363436,6 +379533,7 @@ synonym: "MLS" EXACT ABBREVIATION [Orphanet:59306] synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842] synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306] xref: DOID:0112107 {source="MONDO:equivalentTo"} +xref: GARD:10731 {source="Orphanet:59306"} xref: HGNC:12811 {source="GARD:0010731"} xref: ICD10CM:G10 {source="Orphanet:59306", source="Orphanet:59306/attributed", source="Orphanet:59306/ntbt"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -363459,7 +379557,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10731/mcleod id: MONDO:0018946 name: rhombencephalosynapsis def: "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." [Orphanet:59315] +subset: gard_rare {source="GARD:18855"} subset: ordo_malformation_syndrome {source="Orphanet:59315"} +xref: GARD:18855 {source="Orphanet:59315"} xref: ICD10CM:Q04.3 {source="Orphanet:59315/ntbt", source="Orphanet:59315"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:59315 {source="MONDO:equivalentTo"} @@ -363473,7 +379573,7 @@ id: MONDO:0018947 name: centronuclear myopathy def: "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." [Orphanet:595] subset: disease_grouping -subset: gard_rare {source="GARD:0000101"} +subset: gard_rare {source="GARD:101"} subset: ordo_group_of_disorders {source="Orphanet:595"} synonym: "centronuclear myopathy" EXACT CLINGEN_PREFERRED [] synonym: "CNM" EXACT ABBREVIATION [Orphanet:595] @@ -363481,6 +379581,7 @@ synonym: "myopathy, centronuclear" EXACT [OMIMPS:160150] synonym: "myopathy, myotubular" RELATED [GARD:0000101] synonym: "myotubular myopathy" EXACT [DOID:14717] xref: DOID:14717 {source="MONDO:equivalentTo"} +xref: GARD:101 {source="Orphanet:595"} xref: ICD10CM:G71.2 {source="Orphanet:595/ntbt", source="Orphanet:595/inclusion", source="Orphanet:595"} xref: MESH:D020914 {source="MONDO:relatedTo", source="DOID:14717"} xref: NCIT:C84648 {source="MONDO:relatedTo", source="DOID:14717"} @@ -363501,12 +379602,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/101/centronu id: MONDO:0018948 name: multiminicore myopathy def: "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:598] +subset: gard_rare {source="GARD:16536"} subset: ordo_disease {source="Orphanet:598"} synonym: "MmD" EXACT [Orphanet:598] synonym: "multicore disease" EXACT [GARD:0009130] synonym: "multicore myopathy" EXACT [GARD:0009130] synonym: "multiminicore disease" EXACT [Orphanet:598] xref: DOID:0080991 {source="MONDO:equivalentTo"} +xref: GARD:16536 {source="Orphanet:598"} xref: ICD10CM:G71.2 {source="Orphanet:598", source="Orphanet:598/ntbt", source="Orphanet:598/inclusion"} xref: Orphanet:598 {source="MONDO:equivalentTo"} xref: SCTID:55133004 {source="MONDO:equivalentTo"} @@ -363522,11 +379625,13 @@ id: MONDO:0018949 name: distal myopathy def: "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." [Orphanet:599] subset: disease_grouping +subset: gard_rare {source="GARD:18699"} subset: ordo_group_of_disorders {source="Orphanet:599"} synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599] synonym: "distal myopathy" EXACT [DOID:11720] synonym: "Miyoshi muscular dystrophy" NARROW [DOID:11720] xref: DOID:11720 {source="MONDO:equivalentTo"} +xref: GARD:18699 {source="Orphanet:599"} xref: ICD10CM:G71.0 {source="Orphanet:599", source="DOID:11720", source="Orphanet:599/ntbt", source="Orphanet:599/inclusion"} xref: MESH:D049310 {source="DOID:11720"} xref: NCIT:C84675 {source="DOID:11720", source="MONDO:equivalentTo"} @@ -363548,6 +379653,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018950 name: 3-methylcrotonyl-CoA carboxylase deficiency def: "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." [Orphanet:6] +subset: gard_rare {source="GARD:10954"} subset: ordo_disease {source="Orphanet:6"} synonym: "3-MCC deficiency" EXACT [NCIT:C98674] synonym: "3-methylcrotonyl-CoA carboxylase deficiency" EXACT CLINGEN_PREFERRED [] @@ -363559,6 +379665,7 @@ synonym: "MCCD" EXACT ABBREVIATION [Orphanet:6] synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674] synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200] xref: DOID:0050710 {source="MONDO:equivalentTo"} +xref: GARD:10954 {source="Orphanet:6"} xref: ICD10CM:E71.1 {source="Orphanet:6/attributed", source="Orphanet:6/ntbt", source="Orphanet:6"} xref: MESH:C535308 {source="Orphanet:6", source="Orphanet:6/e"} xref: NCIT:C98674 {source="MONDO:equivalentTo"} @@ -363579,12 +379686,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018951 name: distal myopathy with vocal cord weakness def: "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." [Orphanet:600] +subset: gard_rare {source="GARD:1887"} subset: ordo_disease {source="Orphanet:600"} synonym: "distal myopathy 2" RELATED [GARD:0001887] synonym: "MATR3-related distal myopathy" EXACT [Orphanet:600] synonym: "MPD2" RELATED ABBREVIATION [GARD:0001887] synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600] synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600] +xref: GARD:1887 {source="Orphanet:600"} xref: ICD10CM:G71.0 {source="Orphanet:600/attributed", source="Orphanet:600/ntbt", source="Orphanet:600"} xref: Orphanet:600 {source="MONDO:equivalentTo"} xref: UMLS:CN205357 {source="MONDO:equivalentTo"} @@ -363595,8 +379704,10 @@ property_value: confidence "0.028571428571429136" xsd:double id: MONDO:0018952 name: argyria def: "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." [Orphanet:60014] +subset: gard_rare {source="GARD:18856"} subset: ordo_disease {source="Orphanet:60014"} synonym: "Silver staining" EXACT [Orphanet:60014] +xref: GARD:18856 {source="Orphanet:60014"} xref: ICD10CM:T56.8 {source="Orphanet:60014/ntbt", source="Orphanet:60014"} xref: MedDRA:10003094 {source="Orphanet:60014", source="Orphanet:60014/e"} xref: MESH:D001129 {source="Orphanet:60014", source="MONDO:equivalentTo", source="Orphanet:60014/e"} @@ -363609,6 +379720,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0018953 name: parietal foramina def: "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." [Orphanet:60015] +subset: gard_rare {source="GARD:16662"} subset: ordo_malformation_syndrome {source="Orphanet:60015"} synonym: "Caitlin marks" EXACT [DOID:0060285] synonym: "catlin marks" EXACT [Orphanet:60015] @@ -363619,6 +379731,7 @@ synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, Orphanet:60015] synonym: "parietal foramina" EXACT CLINGEN_PREFERRED [] synonym: "symmetric parietal foramina" EXACT [Orphanet:60015] xref: DOID:0060285 {source="MONDO:equivalentTo"} +xref: GARD:16662 {source="Orphanet:60015"} xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"} xref: ICD10CM:Q75.8 {source="Orphanet:60015", source="Orphanet:60015/attributed", source="Orphanet:60015/ntbt"} xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"} @@ -363635,11 +379748,13 @@ id: MONDO:0018954 name: Loeys-Dietz syndrome def: "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." [Orphanet:60030] subset: clingen +subset: gard_rare {source="GARD:10788"} subset: ordo_malformation_syndrome {source="Orphanet:60030"} synonym: "aortic aneurysm syndrome due to TGF-beta receptors anomalies" EXACT [Orphanet:60030] synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788] synonym: "Loeys-Dietz syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0050466 {source="MONDO:equivalentTo"} +xref: GARD:10788 {source="Orphanet:60030"} xref: ICD10CM:Q87.4 {source="Orphanet:60030/attributed", source="Orphanet:60030/ntbt", source="Orphanet:60030"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055947 {source="DOID:0050466", source="MONDO:equivalentTo"} @@ -363661,7 +379776,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609192"} ! inheri id: MONDO:0018955 name: recurrent respiratory papillomatosis def: "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." [Orphanet:60032] -subset: gard_rare {source="GARD:0000111"} +subset: gard_rare {source="GARD:111"} subset: ordo_disease {source="Orphanet:60032"} synonym: "adult-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111] synonym: "AORRP (type)" RELATED [GARD:0000111] @@ -363672,6 +379787,7 @@ synonym: "laryngeal papilloma, recurrent" RELATED [GARD:0000111] synonym: "recurrent respiratory papillomatosis" EXACT [NCIT:C128637] synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111] synonym: "RRP" EXACT ABBREVIATION [GARD:0000111, NCIT:C128637] +xref: GARD:111 {source="Orphanet:60032"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059314 {source="Orphanet:60032", source="Orphanet:60032/e"} xref: MESH:C535297 {source="Orphanet:60032", source="MONDO:equivalentTo", source="Orphanet:60032/e"} @@ -363689,7 +379805,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/111/recurren id: MONDO:0018956 name: idiopathic bronchiectasis def: "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033] +subset: gard_rare {source="GARD:16664"} subset: ordo_disease {source="Orphanet:60033"} +xref: GARD:16664 {source="Orphanet:60033"} xref: ICD10CM:J47 {source="Orphanet:60033/attributed", source="Orphanet:60033/ntbt", source="Orphanet:60033"} xref: Orphanet:60033 {source="MONDO:equivalentTo"} xref: SCTID:233629001 {source="MONDO:equivalentTo"} @@ -363704,7 +379822,7 @@ property_value: confidence "19.99999999999998" xsd:double id: MONDO:0018957 name: pudendal neuralgia def: "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." [Orphanet:60039] -subset: gard_rare {source="GARD:0010713"} +subset: gard_rare {source="GARD:10713"} subset: ordo_disease {source="Orphanet:60039"} synonym: "Alcock syndrome" EXACT [Orphanet:60039] synonym: "neuralgia of pudendal nerve" EXACT [MONDO:design_pattern] @@ -363713,6 +379831,7 @@ synonym: "pudendal nerve entrapment syndrome" EXACT [Orphanet:60039] synonym: "pudendal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "pudendal neuralgia by pudendal nerve entrapment" EXACT [Orphanet:60039] synonym: "Pudendalgia" EXACT [Orphanet:60039] +xref: GARD:10713 {source="Orphanet:60039"} xref: ICD10CM:M79.2 {source="Orphanet:60039", source="Orphanet:60039/ntbt"} xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D060545 {source="MONDO:equivalentTo", source="Orphanet:60039", source="Orphanet:60039/e"} @@ -363731,6 +379850,7 @@ id: MONDO:0018958 name: nemaline myopathy def: "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." [Orphanet:607] subset: disease_grouping +subset: gard_rare {source="GARD:12033"} subset: ordo_group_of_disorders {source="Orphanet:607"} synonym: "congenital rod disease" RELATED [GARD:0012033] synonym: "NEM" EXACT ABBREVIATION [Orphanet:607] @@ -363743,6 +379863,7 @@ synonym: "Rod body disease" RELATED [GARD:0012033] synonym: "rod myopathy" EXACT [DOID:3191] synonym: "Rod-body myopathy" RELATED [GARD:0012033] xref: DOID:3191 {source="MONDO:equivalentTo"} +xref: GARD:12033 {source="Orphanet:607"} xref: ICD10CM:G71.2 {source="Orphanet:607/inclusion", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/ntbt"} xref: MESH:D017696 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"} @@ -363758,6 +379879,7 @@ id: MONDO:0018959 name: potassium-aggravated myotonia def: "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." [Orphanet:612] subset: disease_grouping +subset: gard_rare {source="GARD:4459"} subset: ordo_group_of_disorders {source="Orphanet:612"} synonym: "K+-aggravated myotonia" EXACT [Orphanet:612] synonym: "K-aggravated myotonia" EXACT [Orphanet:612] @@ -363771,6 +379893,7 @@ synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] synonym: "PAM" EXACT ABBREVIATION [Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] +xref: GARD:4459 {source="Orphanet:612"} xref: ICD10CM:G71.1 {source="Orphanet:612", source="Orphanet:612/attributed", source="Orphanet:612/ntbt"} xref: MESH:C538353 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: NCIT:C122788 {source="MONDO:equivalentTo"} @@ -363791,12 +379914,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018960 name: congenital primary megaureter def: "An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." [https://orcid.org/0000-0001-5208-3432, Orphanet:617] -subset: gard_rare +subset: gard_rare {source="GARD:18700"} subset: ordo_morphological_anomaly {source="Orphanet:617"} synonym: "CGM" RELATED ABBREVIATION [GARD:0000219] synonym: "congenital giant megaureter" RELATED [GARD:0000219] synonym: "congenital megalo-ureter" RELATED [GARD:0001492] synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617] +xref: GARD:18700 {source="Orphanet:617"} xref: ICD10CM:Q62.2 {source="Orphanet:617/specific", source="Orphanet:617", source="Orphanet:617/e"} xref: Orphanet:617 {source="MONDO:equivalentTo"} xref: SCTID:717459000 {source="MONDO:equivalentTo"} @@ -363810,10 +379934,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/219/congenit id: MONDO:0018961 name: familial melanoma def: "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." [Orphanet:618] -subset: gard_rare +subset: gard_rare {source="GARD:3460"} subset: ordo_disease {source="Orphanet:618"} synonym: "hereditary melanoma (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:6846 {source="MONDO:equivalentTo"} +xref: GARD:3460 {source="Orphanet:618"} xref: ICD10CM:C43.0 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} xref: ICD10CM:C43.1 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} xref: ICD10CM:C43.2 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} @@ -363850,10 +379975,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018963 name: hereditary methemoglobinemia def: "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." [NCIT:C98898] +subset: gard_rare {source="GARD:2659"} subset: ordo_disease {source="Orphanet:621"} synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621] synonym: "congenital methemoglobinemia" EXACT [Orphanet:621] synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary] +xref: GARD:2659 {source="Orphanet:621"} xref: ICD10CM:D74.0 {source="Orphanet:621", source="Orphanet:621/attributed", source="Orphanet:621/ntbt"} xref: MESH:C580280 {source="MONDO:equivalentTo"} xref: NCIT:C98898 {source="MONDO:equivalentTo"} @@ -363872,10 +379999,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare id: MONDO:0018964 name: homocystinuria without methylmalonic aciduria def: "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." [Orphanet:622] +subset: gard_rare {source="GARD:16537"} subset: ordo_disease {source="Orphanet:622"} synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622] synonym: "homocystinuria without methylmalonic aciduria" EXACT [] synonym: "methylcobalamin deficiency" EXACT [Orphanet:622] +xref: GARD:16537 {source="Orphanet:622"} xref: ICD10CM:E72.1 {source="Orphanet:622/attributed", source="Orphanet:622/ntbt", source="Orphanet:622"} xref: Orphanet:622 {source="MONDO:equivalentTo"} xref: SCTID:721225009 {source="MONDO:equivalentTo"} @@ -363891,12 +380020,14 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:622"} ! Autosomal id: MONDO:0018965 name: Alport syndrome def: "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies." [Orphanet:63] +subset: gard_rare {source="GARD:5785"} subset: ordo_disease {source="Orphanet:63"} synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63] synonym: "Alport syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Alport's syndrome" EXACT [NCIT:C34842] synonym: "hereditary nephritis" BROAD [DOID:10983, NCIT:C34842] xref: DOID:10983 {source="MONDO:equivalentTo"} +xref: GARD:5785 {source="Orphanet:63"} xref: ICD10CM:Q87.8 {source="Orphanet:63/ntbt", source="Orphanet:63/inclusion", source="Orphanet:63"} xref: ICD10CM:Q87.81 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:63/e", source="Orphanet:63"} @@ -363925,7 +380056,9 @@ replaced_by: MONDO:0000050 id: MONDO:0018967 name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia comment: Editor note: classified as both isolated and syndromic in ORDO +subset: gard_rare {source="GARD:16538"} subset: ordo_clinical_subtype {source="Orphanet:632"} +xref: GARD:16538 {source="Orphanet:632"} xref: ICD10CM:E23.0 {source="Orphanet:632", source="Orphanet:632/attributed", source="Orphanet:632/ntbt"} xref: Orphanet:632 {source="MONDO:equivalentTo"} xref: UMLS:C0472813 {source="Orphanet:632", source="MONDO:notFoundInDiseaseSubset"} @@ -363937,8 +380070,9 @@ relationship: excluded_subClassOf MONDO:0016463 {source="Orphanet:632"} ! syndro id: MONDO:0018968 name: iniencephaly def: "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." [Orphanet:63259] -subset: gard_rare {source="GARD:0010506"} +subset: gard_rare {source="GARD:10506"} subset: ordo_morphological_anomaly {source="Orphanet:63259"} +xref: GARD:10506 {source="Orphanet:63259"} xref: ICD10CM:Q00.2 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="Orphanet:63259/specific"} xref: ICD9:740.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10022034 {source="Orphanet:63259", source="Orphanet:63259/e"} @@ -363953,10 +380087,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10506/inienc id: MONDO:0018969 name: craniorachischisis def: "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." [Orphanet:63260] +subset: gard_rare {source="GARD:10504"} subset: ordo_morphological_anomaly {source="Orphanet:63260"} synonym: "cranial rachischisis" EXACT [NCIT:C98907] synonym: "craniorachischisis" EXACT [MONDO:ambiguous] synonym: "craniorachischisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:10504 {source="Orphanet:63260"} xref: HP:0030770 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q00.1 {source="Orphanet:63260/e", source="Orphanet:63260/specific", source="Orphanet:63260"} xref: ICD9:740.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -364000,8 +380136,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018972 name: obsolete rare epithelial tumor of stomach subset: disease_grouping +subset: gard_rare {source="GARD:18857"} subset: ordo_group_of_disorders {source="Orphanet:63443"} synonym: "rare gastric epithelial tumor" EXACT [Orphanet:63443] +xref: GARD:18857 {source="Orphanet:63443", source="MONDO:obsoleteEquivalent"} xref: Orphanet:63443 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0024623 {source="Orphanet:63443", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN235187 {source="MONDO:obsoleteEquivalent"} @@ -364015,7 +380153,9 @@ consider: MedDRA:10017758 {source="Orphanet:63443", source="Orphanet:63443/e"} id: MONDO:0018973 name: patterned dystrophy of the retinal pigment epithelium subset: disease_grouping +subset: gard_rare {source="GARD:9821"} subset: ordo_group_of_disorders {source="Orphanet:63454"} +xref: GARD:9821 {source="Orphanet:63454"} xref: ICD10CM:H35.5 {source="Orphanet:63454/attributed", source="Orphanet:63454/ntbt", source="MONDO:relatedTo", source="Orphanet:63454"} xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"} xref: Orphanet:63454 {source="MONDO:equivalentTo"} @@ -364026,9 +380166,11 @@ is_a: MONDO:0020242 {source="Orphanet:63454"} ! hereditary macular dystrophy id: MONDO:0018974 name: paraneoplastic pemphigus def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare." [Orphanet:63455] +subset: gard_rare {source="GARD:18858"} subset: ordo_disease {source="Orphanet:63455"} xref: DOID:0080852 {source="MONDO:equivalentTo"} xref: EFO:0008602 {source="MONDO:equivalentTo"} +xref: GARD:18858 {source="Orphanet:63455"} xref: ICD10CM:L10.8 {source="Orphanet:63455", source="Orphanet:63455/ntbt"} xref: ICD10CM:L10.81 {source="MONDO:equivalentTo"} xref: MedDRA:10057056 {source="Orphanet:63455", source="Orphanet:63455/e"} @@ -364041,6 +380183,7 @@ is_a: MONDO:0021073 {source="MONDO:cjm"} ! paraneoplastic syndrome id: MONDO:0018975 name: neurofibromatosis type 1 def: "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:636] +subset: gard_rare {source="GARD:7866"} subset: ordo_disease {source="Orphanet:636"} synonym: "neurofibromatosis" BROAD [NCIT:C3273] synonym: "neurofibromatosis 1" EXACT [NCIT:C3273] @@ -364059,6 +380202,7 @@ synonym: "Von Recklinghausen disease" RELATED [NCIT:C3273, OMIM:162200, Orphanet synonym: "von Reklinghausen disease" RELATED [DOID:8712] xref: DECIPHER:15 {source="MONDO:equivalentTo"} xref: DOID:0111253 {source="MONDO:equivalentTo"} +xref: GARD:7866 {source="Orphanet:636"} xref: ICD10CM:Q85.0 {source="Orphanet:636/ntbt", source="Orphanet:636/inclusion", source="Orphanet:636"} xref: ICD9:237.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047712 {source="Orphanet:636", source="Orphanet:636/e"} @@ -364090,9 +380234,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018976 name: schisis association def: "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." [https://orcid.org/0000-0001-5208-3432, Orphanet:63862] -subset: gard_rare {source="GARD:0000246"} +subset: gard_rare {source="GARD:246"} subset: ordo_malformation_syndrome {source="Orphanet:63862"} synonym: "Midline development field defects" RELATED [GARD:0000246] +xref: GARD:246 {source="Orphanet:63862"} xref: ICD10CM:Q87.8 {source="Orphanet:63862", source="Orphanet:63862/ntbt"} xref: MESH:C536633 {source="Orphanet:63862", source="MONDO:equivalentTo", source="Orphanet:63862/e"} xref: Orphanet:63862 {source="MONDO:equivalentTo"} @@ -364105,9 +380250,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/246/schisis- id: MONDO:0018977 name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG def: "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." [Orphanet:639] +subset: gard_rare {source="GARD:13173"} subset: ordo_disease {source="Orphanet:639"} synonym: "anti-MAG neuropathy" EXACT [Orphanet:639] synonym: "neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein" EXACT [Orphanet:639] +xref: GARD:13173 {source="Orphanet:639"} xref: ICD10CM:G61.8 {source="Orphanet:639", source="Orphanet:639/ntbt"} xref: Orphanet:639 {source="MONDO:equivalentTo"} xref: UMLS:C1736154 {source="MONDO:equivalentTo", source="Orphanet:639"} @@ -364117,11 +380264,13 @@ is_a: MONDO:0015923 {source="Orphanet:639"} ! acquired peripheral neuropathy [Term] id: MONDO:0018978 name: IgG4-related mediastinitis +subset: gard_rare {source="GARD:8337"} subset: ordo_disease {source="Orphanet:63999"} synonym: "fibrosing mediastinitis" EXACT [Orphanet:63999] synonym: "idiopathic mediastinal fibrosis" RELATED [GARD:0008337] synonym: "mediastinal fibrosis" EXACT [Orphanet:63999] synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999] +xref: GARD:8337 {source="Orphanet:63999"} xref: ICD10CM:J98.5 {source="Orphanet:63999", source="Orphanet:63999/ntbt"} xref: MedDRA:10027074 {source="Orphanet:63999", source="Orphanet:63999/e"} xref: MESH:C536136 {source="MONDO:equivalentTo", source="Orphanet:63999", source="Orphanet:63999/e"} @@ -364136,11 +380285,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare id: MONDO:0018979 name: multifocal motor neuropathy def: "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." [Orphanet:641] -subset: gard_rare {source="GARD:0011011"} +subset: gard_rare {source="GARD:11011"} subset: ordo_disease {source="Orphanet:641"} synonym: "MMN" EXACT ABBREVIATION [Orphanet:641] synonym: "MMNCB" EXACT ABBREVIATION [Orphanet:641] synonym: "multifocal motor neuropathy with conduction block" EXACT [Orphanet:641] +xref: GARD:11011 {source="Orphanet:641"} xref: ICD10CM:G61.8 {source="Orphanet:641/ntbt", source="Orphanet:641"} xref: ICD10CM:G61.82 {source="MONDO:equivalentTo"} xref: ICD9:357.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -364155,8 +380305,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11011/multif id: MONDO:0018980 name: acrofacial dysostosis, Kennedy-Teebi type def: "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." [Orphanet:64542] +subset: gard_rare {source="GARD:18859"} subset: ordo_malformation_syndrome {source="Orphanet:64542"} synonym: "Kennedy-Teebi syndrome" EXACT [Orphanet:64542] +xref: GARD:18859 {source="Orphanet:64542"} xref: ICD10CM:Q75.4 {source="Orphanet:64542", source="Orphanet:64542/attributed", source="Orphanet:64542/ntbt"} xref: Orphanet:64542 {source="MONDO:equivalentTo"} xref: SCTID:720427009 {source="MONDO:equivalentTo"} @@ -364167,9 +380319,11 @@ is_a: MONDO:0018237 {source="Orphanet:64542"} ! acrofacial dysostosis id: MONDO:0018981 name: benign idiopathic neonatal seizures def: "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." [Orphanet:64545] +subset: gard_rare {source="GARD:18860"} subset: ordo_disease {source="Orphanet:64545"} synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545] synonym: "BINS" EXACT ABBREVIATION [Orphanet:64545] +xref: GARD:18860 {source="Orphanet:64545"} xref: ICD10CM:G40.4 {source="Orphanet:64545/ntbt", source="Orphanet:64545"} xref: Orphanet:64545 {source="MONDO:equivalentTo"} xref: UMLS:CN205419 {source="MONDO:equivalentTo"} @@ -364181,8 +380335,10 @@ relationship: has_characteristic MONDO:0700005 {source="Orphanet:64545"} ! idiop id: MONDO:0018982 name: Niemann-Pick disease type C def: "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." [PMID:21502308] +subset: gard_rare {source="GARD:7207"} subset: ordo_disease {source="Orphanet:646"} synonym: "NPC" BROAD ABBREVIATION [PMID:21502308] +xref: GARD:7207 {source="Orphanet:646"} xref: ICD10CM:E75.2 {source="Orphanet:646/inclusion", source="Orphanet:646/ntbt", source="Orphanet:646"} xref: MESH:D052556 {source="Orphanet:646", source="MONDO:equivalentTo", source="Orphanet:646/e"} xref: Orphanet:646 {source="MONDO:equivalentTo"} @@ -364203,7 +380359,7 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:646"} ! Autosomal id: MONDO:0018983 name: Tolosa-Hunt syndrome def: "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." [Orphanet:64686] -subset: gard_rare {source="GARD:0007777"} +subset: gard_rare {source="GARD:7777"} subset: ordo_disease {source="Orphanet:64686"} synonym: "nonspecific inflammation of the cavernous sinus or superior orbital fissure" RELATED [GARD:0007777] synonym: "painful ophthalmoplegia" EXACT [Orphanet:64686] @@ -364211,6 +380367,7 @@ synonym: "THS" RELATED ABBREVIATION [GARD:0007777] synonym: "Tolosa Hunt syndrome" EXACT [GARD:0007777] synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278] xref: DOID:1278 {source="MONDO:equivalentTo"} +xref: GARD:7777 {source="Orphanet:64686"} xref: ICD10CM:H49.8 {source="Orphanet:64686/attributed", source="Orphanet:64686/ntbt", source="Orphanet:64686"} xref: MedDRA:10051526 {source="Orphanet:64686", source="Orphanet:64686/e"} xref: MESH:C531833 {source="Orphanet:64686", source="Orphanet:64686/e"} @@ -364231,6 +380388,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7777/tolosa- id: MONDO:0018984 name: Oroya fever def: "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." [NCIT:C128441] +subset: gard_rare {source="GARD:18861"} subset: ordo_disease {source="Orphanet:64692"} synonym: "Bartonella bacilliformis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonella bacilliformis disease or disorder" EXACT [] @@ -364241,6 +380399,7 @@ synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MON synonym: "Carrión disease" EXACT [NCIT:C128441] synonym: "Oroya fever" EXACT [DOID:0050398] xref: DOID:0050398 {source="MONDO:equivalentTo"} +xref: GARD:18861 {source="Orphanet:64692"} xref: ICD10CM:A44.0 {source="Orphanet:64692/e", source="Orphanet:64692"} xref: MESH:D001474 {source="Orphanet:64692/e", source="Orphanet:64692"} xref: NCIT:C128441 {source="MONDO:equivalentTo"} @@ -364272,10 +380431,12 @@ replaced_by: MONDO:0005058 id: MONDO:0018987 name: granulomatous mastitis def: "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." [MESH:D058890] +subset: gard_rare {source="GARD:18863"} subset: ordo_disease {source="Orphanet:64722"} synonym: "granulomatous lobular mastitis" RELATED [GARD:0013119] synonym: "idiopathic granulomatous lobular mastitis" RELATED [GARD:0013119] synonym: "idiopathic granulomatous mastitis" EXACT [Orphanet:64722] +xref: GARD:18863 {source="Orphanet:64722"} xref: ICD10CM:N61 {source="Orphanet:64722/ntbt", source="Orphanet:64722"} xref: MESH:D058890 {source="Orphanet:64722", source="MONDO:equivalentTo", source="Orphanet:64722/e"} xref: Orphanet:64722 {source="MONDO:equivalentTo"} @@ -364287,9 +380448,10 @@ is_a: MONDO:0002263 {source="MONDO:0015858-obsoleted"} ! female reproductive sys id: MONDO:0018988 name: iridocorneal endothelial syndrome def: "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" [Orphanet:64734] -subset: gard_rare +subset: gard_rare {source="GARD:60"} subset: ordo_disease {source="Orphanet:64734"} synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734] +xref: GARD:60 {source="Orphanet:64734"} xref: ICD10CM:H21.1 {source="Orphanet:64734", source="Orphanet:64734/attributed", source="Orphanet:64734/ntbt"} xref: MedDRA:10053678 {source="Orphanet:64734", source="Orphanet:64734/e"} xref: MESH:D057129 {source="MONDO:equivalentTo", source="Orphanet:64734", source="Orphanet:64734/e"} @@ -364336,8 +380498,10 @@ replaced_by: MONDO:0005933 id: MONDO:0018991 name: hepatoportal sclerosis def: "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." [Orphanet:64743] +subset: gard_rare {source="GARD:18865"} subset: ordo_disease {source="Orphanet:64743"} synonym: "obliterative portal venopathy" EXACT [Orphanet:64743] +xref: GARD:18865 {source="Orphanet:64743"} xref: ICD10CM:K74.1 {source="Orphanet:64743/ntbt", source="Orphanet:64743"} xref: Orphanet:64743 {source="MONDO:equivalentTo"} xref: SCTID:718096004 {source="MONDO:equivalentTo"} @@ -364349,12 +380513,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare id: MONDO:0018992 name: IgG4-related thyroid disease def: "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." [Orphanet:64744] +subset: gard_rare {source="GARD:18866"} subset: ordo_disease {source="Orphanet:64744"} synonym: "Riedel disease" EXACT [Orphanet:64744] synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351] synonym: "Riedel thyroiditis" EXACT [NCIT:C35827, Orphanet:64744] synonym: "Riedel's fibrosing thyroiditis" EXACT [MONDO:0001948] xref: DOID:14351 {source="MONDO:equivalentTo"} +xref: GARD:18866 {source="Orphanet:64744"} xref: ICD10CM:E06.5 {source="Orphanet:64744/ntbt", source="Orphanet:64744"} xref: MedDRA:10039142 {source="Orphanet:64744", source="Orphanet:64744/e"} xref: NCIT:C35827 {source="DOID:14351", source="MONDO:equivalentTo"} @@ -364370,6 +380536,7 @@ id: MONDO:0018993 name: Charcot-Marie-Tooth disease type 2 def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [DOID:0050539, http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, PMID:25098539] subset: disease_grouping +subset: gard_rare {source="GARD:12431"} subset: ordo_group_of_disorders {source="Orphanet:64746"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease" EXACT [Orphanet:64746] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:64746] @@ -364379,6 +380546,7 @@ synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXA synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [DOID:0050539] synonym: "hereditary motor and sensory neuropathy type 2" EXACT [DOID:0050539, Orphanet:64746] xref: DOID:0050539 {source="MONDO:equivalentTo"} +xref: GARD:12431 {source="Orphanet:64746"} xref: ICD10CM:G60.0 {source="Orphanet:64746/inclusion", source="Orphanet:64746", source="Orphanet:64746/ntbt"} xref: ICD9:356.0 {source="DOID:0050539"} xref: Orphanet:64746 {source="MONDO:equivalentTo", source="DOID:0050539"} @@ -364397,6 +380565,7 @@ id: MONDO:0018994 name: Charcot-Marie-Tooth disease type X def: "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." [https://charcot-marie-toothnews.com/charcot-marie-tooth-type-x-cmtx/, https://www.mda.org/disease/charcot-marie-tooth/types/cmtx] subset: disease_grouping +subset: gard_rare {source="GARD:12444"} subset: ordo_group_of_disorders {source="Orphanet:64747"} synonym: "CMTX" EXACT ABBREVIATION [Orphanet:64747] synonym: "Cowchock syndrome" RELATED EXCLUDE [DOID:0050542] @@ -364404,6 +380573,7 @@ synonym: "COWCK" EXACT ABBREVIATION [DOID:0050542] synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747] synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747] xref: DOID:0050542 {source="MONDO:equivalentTo"} +xref: GARD:12444 {source="Orphanet:64747"} xref: ICD10CM:G60.0 {source="Orphanet:64747/inclusion", source="Orphanet:64747", source="Orphanet:64747/ntbt"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:64747 {source="DOID:0050542", source="MONDO:equivalentTo"} @@ -364421,12 +380591,14 @@ id: MONDO:0018995 name: Charcot-Marie-Tooth disease type 4 def: "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:64749] subset: disease_grouping +subset: gard_rare {source="GARD:12440"} subset: ordo_group_of_disorders {source="Orphanet:64749"} synonym: "AR-CMT1" EXACT [Orphanet:64749] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth" EXACT [Orphanet:64749] synonym: "CMT4" EXACT ABBREVIATION [Orphanet:64749] synonym: "hereditary motor and sensory neuropathy" RELATED EXCLUDE [DOID:0050541] xref: DOID:0050541 {source="MONDO:equivalentTo"} +xref: GARD:12440 {source="Orphanet:64749"} xref: ICD10CM:G60.0 {source="Orphanet:64749/inclusion", source="Orphanet:64749/ntbt", source="Orphanet:64749"} xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"} xref: SCTID:715795005 {source="MONDO:equivalentTo"} @@ -364441,6 +380613,7 @@ id: MONDO:0018996 name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." [https://github.com/Orphanet/ORDO/issues/11, Orphanet:64753] comment: See https://github.com/Orphanet/ORDO/issues/11 +subset: gard_rare {source="GARD:15389", source="GARD:12860"} subset: ordo_disease {source="Orphanet:64753"} synonym: "AOA2" EXACT ABBREVIATION [OMIM:606002, Orphanet:64753] synonym: "ataxia with oculomotor apraxia type 2" EXACT [MONDO:0000438] @@ -364455,6 +380628,8 @@ synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [Orphanet: synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:606002] synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002] xref: DOID:0050755 {source="MONDO:equivalentTo"} +xref: GARD:12860 {source="Orphanet:64753"} +xref: GARD:15389 {source="OMIM:606002"} xref: ICD10CM:G60.2 {source="Orphanet:64753", source="Orphanet:64753/attributed", source="Orphanet:64753/ntbt"} xref: MESH:C537308 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C165500 {source="MONDO:equivalentTo"} @@ -364474,6 +380649,7 @@ id: MONDO:0018997 name: Noonan syndrome def: "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." [Orphanet:648] subset: clingen +subset: gard_rare {source="GARD:10955"} subset: ordo_malformation_syndrome {source="Orphanet:648"} synonym: "Noonan syndrome" EXACT CLINGEN_PREFERRED [NCIT:C34854] synonym: "Noonan's syndrome" EXACT [NCIT:C34854] @@ -364482,6 +380658,7 @@ synonym: "pseudo-Ullrich-Turner syndrome" RELATED [GARD:0010955] synonym: "Turner's phenotype, karyotype normal" EXACT [DOID:3490] synonym: "Ullrich-Noonan syndrome" RELATED [GARD:0010955] xref: DOID:3490 {source="MONDO:equivalentTo"} +xref: GARD:10955 {source="Orphanet:648"} xref: ICD10CM:Q87.1 {source="Orphanet:648/inclusion", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029748 {source="Orphanet:648", source="Orphanet:648/e"} @@ -364510,6 +380687,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018998 name: Leber congenital amaurosis def: "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." [Orphanet:65] +subset: gard_rare {source="GARD:634"} subset: ordo_disease {source="Orphanet:65"} synonym: "amaurosis congenita of Leber" EXACT [Orphanet:65] synonym: "congenital absence of the rods and cones" RELATED [GARD:0000634] @@ -364522,6 +380700,7 @@ synonym: "Leber's congenital tapetoretinal degeneration" RELATED [GARD:0000634] synonym: "Leber's congenital tapetoretinal dysplasia" RELATED [GARD:0000634] synonym: "Leber's disease" EXACT [DOID:14791] xref: DOID:14791 {source="MONDO:equivalentTo"} +xref: GARD:634 {source="Orphanet:65"} xref: ICD10CM:H35.5 {source="Orphanet:65", source="Orphanet:65/index", source="Orphanet:65/ntbt", source="MONDO:directSiblingOf"} xref: MedDRA:10070667 {source="Orphanet:65", source="Orphanet:65/e"} xref: MESH:D057130 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e"} @@ -364541,8 +380720,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018999 name: LCAT deficiency def: "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." [Orphanet:650] +subset: gard_rare {source="GARD:16539"} subset: ordo_disease {source="Orphanet:650"} synonym: "lecithin-cholesterol acyltransferase deficiency" EXACT [Orphanet:650] +xref: GARD:16539 {source="Orphanet:650"} xref: ICD10CM:E78.6 {source="Orphanet:650/ntbt", source="Orphanet:650/inclusion", source="Orphanet:650"} xref: Orphanet:650 {source="MONDO:equivalentTo"} xref: SCTID:49227001 {source="MONDO:equivalentTo"} @@ -364556,6 +380737,7 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0019000 name: perineural cyst def: "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." [Orphanet:65250] +subset: gard_rare {source="GARD:9258"} subset: ordo_disease {source="Orphanet:65250"} synonym: "perineural cysts" RELATED [GARD:0009258] synonym: "sacral neural cysts" RELATED [GARD:0009258] @@ -364564,6 +380746,7 @@ synonym: "sacral Tarlov cysts" RELATED [GARD:0009258] synonym: "Tarlov cyst" EXACT [Orphanet:65250] synonym: "Tarlov cysts" RELATED [GARD:0009258] xref: EFO:1001858 {source="MONDO:equivalentTo"} +xref: GARD:9258 {source="Orphanet:65250"} xref: ICD10CM:G54.8 {source="Orphanet:65250/ntbt", source="Orphanet:65250"} xref: MESH:D052958 {source="MONDO:equivalentTo"} xref: Orphanet:65250 {source="MONDO:equivalentTo"} @@ -364582,11 +380765,13 @@ replaced_by: MONDO:0011841 id: MONDO:0019002 name: Lhermitte-Duclos disease def: "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." [Orphanet:65285] +subset: gard_rare {source="GARD:6901"} subset: ordo_disease {source="Orphanet:65285"} synonym: "dysplastic cerebellar gangliocytoma" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285] synonym: "LDD" EXACT ABBREVIATION [Orphanet:65285] +xref: GARD:6901 {source="Orphanet:65285"} xref: ICD10CM:Q04.8 {source="Orphanet:65285/attributed", source="Orphanet:65285/ntbt", source="Orphanet:65285"} xref: ICDO:9493/0 {source="NCIT:C8419"} xref: NCIT:C8419 {source="MONDO:equivalentTo"} @@ -364602,10 +380787,11 @@ property_value: confidence "1.14975845410628" xsd:double id: MONDO:0019003 name: multiple endocrine neoplasia type 2 def: "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." [Orphanet:653] -subset: gard_rare {source="GARD:0003830"} +subset: gard_rare {source="GARD:3830"} subset: ordo_disease {source="Orphanet:653"} synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653] synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329] +xref: GARD:3830 {source="Orphanet:653"} xref: ICD10CM:D44.8 {source="Orphanet:653", source="Orphanet:653/attributed", source="Orphanet:653/ntbt"} xref: ICD9:194.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -364624,6 +380810,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3830/multipl id: MONDO:0019004 name: kidney Wilms tumor def: "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." [NCIT:C40407] +subset: gard_rare {source="GARD:7892"} subset: ordo_disease {source="Orphanet:654"} synonym: "adult nephroblastoma" NARROW [DOID:2154] synonym: "adult renal Wilms' tumor" NARROW EXCLUDE [DOID:2154] @@ -364653,6 +380840,7 @@ synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "Wilms' tumour of the kidney" EXACT OMO:0003005 [] xref: DOID:2154 {source="MONDO:equivalentTo"} xref: DOID:5176 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:7892 {source="Orphanet:654"} xref: ICD10CM:C64 {source="Orphanet:654", source="Orphanet:654/index", source="Orphanet:654/ntbt"} xref: ICDO:8960/3 {source="NCIT:C40407"} xref: MedDRA:10029145 {source="Orphanet:654", source="Orphanet:654/e"} @@ -364674,13 +380862,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019005 name: nephronophthisis def: "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." [NCIT:P378] -subset: gard_rare +subset: gard_rare {source="GARD:206"} subset: ordo_disease {source="Orphanet:655"} synonym: "medullary cystic disease" EXACT [DOID:12712] synonym: "medullary cystic kidney" EXACT [DOID:12712, ICD9CM:753.16] synonym: "nephronophthisis" EXACT [MONDO:ambiguous] synonym: "nephronophthisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12712 {source="MONDO:equivalentTo"} +xref: GARD:206 {source="Orphanet:655"} xref: HP:0000090 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.5 {source="Orphanet:655/attributed", source="Orphanet:655/ntbt", source="DOID:12712", source="Orphanet:655"} xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo"} @@ -364701,8 +380890,10 @@ property_value: IAO:0000589 "nephronophthisis (disease)" xsd:string id: MONDO:0019006 name: familial idiopathic steroid-resistant nephrotic syndrome def: "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." [Orphanet:656] +subset: gard_rare {source="GARD:3946"} subset: ordo_disease {source="Orphanet:656"} synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656] +xref: GARD:3946 {source="Orphanet:656"} xref: ICD10CM:N04.1 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} xref: ICD10CM:N04.3 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} xref: ICD10CM:N04.8 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} @@ -364719,7 +380910,9 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0019007 name: vaginal atresia +subset: gard_rare {source="GARD:18867"} subset: ordo_morphological_anomaly {source="Orphanet:65681"} +xref: GARD:18867 {source="Orphanet:65681"} xref: HP:0000148 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q52.0 {source="Orphanet:65681/ntbt", source="Orphanet:65681"} xref: MedDRA:10046879 {source="Orphanet:65681/e", source="Orphanet:65681"} @@ -364733,12 +380926,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019008 name: benign recurrent intrahepatic cholestasis def: "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." [Orphanet:65682] -subset: gard_rare {source="GARD:0012185"} +subset: gard_rare {source="GARD:12185"} subset: ordo_disease {source="Orphanet:65682"} synonym: "Bric" EXACT [Orphanet:65682] synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682] xref: DOID:0070230 {source="MONDO:equivalentTo"} +xref: GARD:12185 {source="Orphanet:65682"} xref: ICD10CM:K83.1 {source="Orphanet:65682/attributed", source="Orphanet:65682/ntbt", source="Orphanet:65682"} xref: OMIMPS:243300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:65682 {source="MONDO:equivalentTo"} @@ -364755,8 +380949,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12185/benign id: MONDO:0019009 name: isolated focal cortical dysplasia def: "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." [Orphanet:65683] +subset: gard_rare {source="GARD:16671"} subset: ordo_disease {source="Orphanet:65683"} synonym: "epilepsy due to FCD" EXACT [Orphanet:65683] +xref: GARD:16671 {source="Orphanet:65683"} xref: ICD10CM:Q04.8 {source="Orphanet:65683/attributed", source="Orphanet:65683/ntbt", source="Orphanet:65683"} xref: Orphanet:65683 {source="MONDO:equivalentTo"} xref: SCTID:766710005 {source="MONDO:equivalentTo"} @@ -364770,6 +380966,7 @@ id: MONDO:0019010 name: congenital isolated hyperinsulinism def: "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." [Orphanet:657] subset: disease_grouping +subset: gard_rare {source="GARD:3947"} subset: ordo_group_of_disorders {source="Orphanet:657"} synonym: "chi" EXACT [Orphanet:657] synonym: "congenital hyperinsulinism" RELATED [GARD:0003947] @@ -364779,6 +380976,7 @@ synonym: "hyperinsulinism familial with pancreatic nesidioblastosis" RELATED [GA synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657] synonym: "PHHI" EXACT ABBREVIATION [Orphanet:657] +xref: GARD:3947 {source="Orphanet:657"} xref: ICD10CM:E16.1 {source="Orphanet:657/attributed", source="Orphanet:657/ntbt", source="Orphanet:657"} xref: MESH:D044903 {source="Orphanet:657", source="Orphanet:657/e"} xref: NCIT:C122923 {source="MONDO:equivalentTo"} @@ -364795,6 +380993,7 @@ id: MONDO:0019011 name: Charcot-Marie-Tooth disease type 1 def: "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." [Orphanet:65753] subset: disease_grouping +subset: gard_rare {source="GARD:12433"} subset: ordo_group_of_disorders {source="Orphanet:65753"} synonym: "autosomal dominant demyelinating Charcot-Marie-Tooth disease" EXACT [Orphanet:65753] synonym: "Charcot-Marie-Tooth neuropathy type 1" EXACT [Orphanet:65753] @@ -364802,6 +381001,7 @@ synonym: "Charcot-Marie-Tooth type 1" RELATED [GARD:0012433] synonym: "CMT1" EXACT ABBREVIATION [Orphanet:65753] synonym: "hereditary motor and sensory neuropathy type 1" EXACT [DOID:0050538, Orphanet:65753] xref: DOID:0050538 {source="MONDO:equivalentTo"} +xref: GARD:12433 {source="Orphanet:65753"} xref: ICD10CM:G60.0 {source="Orphanet:65753/ntbt", source="Orphanet:65753", source="Orphanet:65753/inclusion"} xref: Orphanet:65753 {source="MONDO:equivalentTo"} xref: SCTID:398040009 {source="MONDO:equivalentTo"} @@ -364815,6 +381015,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019012 name: Carpenter syndrome def: "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." [NCIT:C98873] +subset: gard_rare {source="GARD:6003"} subset: ordo_malformation_syndrome {source="Orphanet:65759"} synonym: "ACPS2" EXACT ABBREVIATION [Orphanet:65759] synonym: "acrocephalopolysyndactyly type 2" EXACT [Orphanet:65759] @@ -364824,6 +381025,7 @@ synonym: "Carpenter 's syndrome" EXACT [NCIT:C98873] synonym: "Carpenter syndrome" EXACT [NCIT:C98873] synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873] xref: DOID:0060234 {source="MONDO:equivalentTo"} +xref: GARD:6003 {source="Orphanet:65759"} xref: ICD10CM:Q87.0 {source="Orphanet:65759", source="Orphanet:65759/index", source="Orphanet:65759/ntbt"} xref: MESH:C563187 {source="DOID:0060234"} xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"} @@ -364845,11 +381047,13 @@ id: MONDO:0019013 name: non-histaminic angioedema def: "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:658] subset: disease_grouping +subset: gard_rare {source="GARD:18701"} subset: ordo_group_of_disorders {source="Orphanet:658"} synonym: "angioneurotic edema" EXACT [Orphanet:658] synonym: "angioneurotic oedema" EXACT OMO:0003005 [] synonym: "bradykinine-induced angioedema" EXACT [Orphanet:658] synonym: "non histamine-induced angioedema" EXACT [Orphanet:658] +xref: GARD:18701 {source="Orphanet:658"} xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:658 {source="MONDO:equivalentTo"} xref: SCTID:41291007 {source="MONDO:equivalentTo"} @@ -364871,6 +381075,7 @@ replaced_by: MONDO:0100296 id: MONDO:0019015 name: omphalocele def: "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." [Orphanet:660] +subset: gard_rare {source="GARD:16540"} subset: ordo_morphological_anomaly {source="Orphanet:660"} synonym: "congenital omphalocele" EXACT [NCIT:C98997] synonym: "eventration" BROAD [NCIT:C98997] @@ -364879,6 +381084,7 @@ synonym: "omphalocele" EXACT [MONDO:ambiguous] synonym: "omphalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "omphalocoele" EXACT [DOID:0060327] xref: DOID:0060327 {source="MONDO:equivalentTo"} +xref: GARD:16540 {source="Orphanet:660"} xref: HP:0001539 {source="MONDO:otherHierarchy", source="DOID:0060327"} xref: ICD10CM:Q79.2 {source="DOID:0060327", source="Orphanet:660/ntbt", source="Orphanet:660"} xref: ICD9:756.72 {source="DOID:0060327"} @@ -364904,9 +381110,11 @@ property_value: IAO:0000589 "omphalocele (disease)" xsd:string [Term] id: MONDO:0019016 name: maternally-inherited progressive external ophthalmoplegia +subset: gard_rare {source="GARD:16479"} subset: ordo_disease {source="Orphanet:663"} synonym: "maternally-inherited chronic progressive external ophthalmoplegia" EXACT [Orphanet:663] synonym: "maternally-inherited CPEO" EXACT [Orphanet:663] +xref: GARD:16479 {source="Orphanet:663"} xref: ICD10CM:H49.4 {source="Orphanet:663/specific", source="Orphanet:663/e", source="MONDO:directSiblingOf", source="Orphanet:663"} xref: Orphanet:663 {source="MONDO:equivalentTo"} xref: UMLS:C0162674 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:663"} @@ -364922,7 +381130,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019017 name: short fifth metacarpals-insulin resistance syndrome def: "A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:66518] +subset: gard_rare {source="GARD:18868"} subset: ordo_disease {source="Orphanet:66518"} +xref: GARD:18868 {source="Orphanet:66518"} xref: ICD10CM:E13 {source="Orphanet:66518", source="Orphanet:66518/attributed", source="Orphanet:66518/ntbt"} xref: Orphanet:66518 {source="MONDO:equivalentTo"} xref: UMLS:CN205478 {source="MONDO:equivalentTo"} @@ -364934,6 +381144,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019018 name: Tako-tsubo cardiomyopathy def: "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." [Orphanet:66529] +subset: gard_rare {source="GARD:9400"} subset: ordo_disease {source="Orphanet:66529"} synonym: "acute stress cardiomyopathy" RELATED [GARD:0009400] synonym: "ampulla cardiomyopathy" EXACT [Orphanet:66529] @@ -364952,6 +381163,7 @@ synonym: "Takotsubo syndrome" EXACT [Orphanet:66529] synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400] synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529] xref: EFO:1002000 {source="MONDO:equivalentTo"} +xref: GARD:9400 {source="Orphanet:66529"} xref: ICD10CM:I42.8 {source="Orphanet:66529", source="Orphanet:66529/ntbt"} xref: ICD9:429.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D054549 {source="MONDO:equivalentTo"} @@ -364967,7 +381179,7 @@ is_a: MONDO:0004994 {source="EFO:1002000", source="MONDO:Redundant", source="NCI id: MONDO:0019019 name: osteogenesis imperfecta def: "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." [Orphanet:666] -subset: gard_rare {source="GARD:0001017"} +subset: gard_rare {source="GARD:1017"} subset: ordo_disease {source="Orphanet:666"} synonym: "brittle bone disease" EXACT [DOID:12347, Orphanet:666] synonym: "Fragilitas ossium" RELATED [DOID:12347] @@ -364980,6 +381192,7 @@ synonym: "Porak and Durante disease" EXACT [Orphanet:666] synonym: "Vrolik disease" RELATED [GARD:0001017] synonym: "Vrolik's disease" EXACT [DOID:12347] xref: DOID:12347 {source="MONDO:equivalentTo"} +xref: GARD:1017 {source="Orphanet:666"} xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="Orphanet:666/specific"} xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10031243 {source="Orphanet:666", source="Orphanet:666/e"} @@ -365016,6 +381229,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1017/osteoge id: MONDO:0019020 name: PANDAS def: "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." [Orphanet:66624] +subset: gard_rare {source="GARD:7312"} subset: ordo_disease {source="Orphanet:66624"} synonym: "paediatric autoimmune disorders associated with Streptococcus infections" EXACT OMO:0003005 [] synonym: "paediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED OMO:0003005 [] @@ -365025,6 +381239,7 @@ synonym: "pediatric autoimmune disorders associated with Streptococcus infection synonym: "pediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED [GARD:0007312] synonym: "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED [GARD:0007312] synonym: "pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" EXACT [Orphanet:66624] +xref: GARD:7312 {source="Orphanet:66624"} xref: MESH:C537163 {source="MONDO:equivalentTo"} xref: Orphanet:66624 {source="MONDO:equivalentTo"} xref: UMLS:CN205481 {source="MONDO:equivalentTo"} @@ -365041,7 +381256,9 @@ replaced_by: MONDO:0006906 id: MONDO:0019022 name: sensorineural hearing loss-early graying-essential tremor syndrome def: "Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor." [Orphanet:66633] +subset: gard_rare {source="GARD:18869"} subset: ordo_malformation_syndrome {source="Orphanet:66633"} +xref: GARD:18869 {source="Orphanet:66633"} xref: Orphanet:66633 {source="MONDO:equivalentTo"} xref: UMLS:CN205488 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 {source="Orphanet:66633"} ! movement disorder @@ -365052,6 +381269,7 @@ id: MONDO:0019023 name: cutaneous mastocytosis def: "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis." [Orphanet:66646] subset: disease_grouping +subset: gard_rare {source="GARD:7842"} subset: ordo_group_of_disorders {source="Orphanet:66646"} synonym: "CM" EXACT ABBREVIATION [DOID:3663, NCIT:C7137] synonym: "CMCD" RELATED ABBREVIATION [ONCOTREE:CMCD] @@ -365062,6 +381280,7 @@ synonym: "mastocytosis, cutaneous" EXACT [OMIM:154800, OMIM:genemap2] synonym: "mastocytosis, systemic, somatic" EXACT [OMIM:154800, OMIM:genemap2] xref: DOID:3663 {source="MONDO:equivalentTo"} xref: EFO:1000886 {source="MONDO:equivalentTo"} +xref: GARD:7842 {source="Orphanet:66646"} xref: HP:0200151 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.2 {source="Orphanet:66646", source="Orphanet:66646/e"} xref: ICDO:9740/1 {source="NCIT:C7137"} @@ -365083,6 +381302,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019024 name: mast cell sarcoma def: "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" [NCIT:C9348] +subset: gard_rare {source="GARD:18870"} subset: ordo_disease {source="Orphanet:66661"} synonym: "mast cell sarcoma" EXACT [MONDO:0006296, MONDO:patterns/location] synonym: "mast-cell sarcoma" EXACT [MONDO:0002686] @@ -365091,6 +381311,7 @@ synonym: "MCSL" RELATED ABBREVIATION [ONCOTREE:MCSL] synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:355 {source="MONDO:equivalentTo"} xref: EFO:1000364 {source="MONDO:equivalentTo"} +xref: GARD:18870 {source="Orphanet:66661"} xref: ICD10CM:C96.2 {source="Orphanet:66661/ntbt", source="Orphanet:66661", source="DOID:355"} xref: ICD9:202.6 {source="DOID:355"} xref: ICDO:9740/3 {source="NCIT:C9348"} @@ -365115,10 +381336,12 @@ intersection_of: disease_has_location CL:0000097 ! mast cell id: MONDO:0019025 name: extracutaneous mastocytoma def: "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" [NCIT:C7136] +subset: gard_rare {source="GARD:18871"} subset: ordo_disease {source="Orphanet:66662"} synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136] xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"} xref: EFO:1000932 {source="MONDO:equivalentTo"} +xref: GARD:18871 {source="Orphanet:66662"} xref: ICD10CM:C96.2 {source="Orphanet:66662/ntbt", source="Orphanet:66662"} xref: ICDO:9740/1 {source="NCIT:C7136"} xref: MESH:D034801 {source="DOID:4659", source="EFO:1000932"} @@ -365134,6 +381357,7 @@ is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis id: MONDO:0019026 name: autosomal recessive osteopetrosis def: "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." [NCIT:C129733] +subset: gard_rare {source="GARD:15012"} subset: ordo_malformation_syndrome {source="Orphanet:667"} synonym: "autosomal recessive malignant osteopetrosis" EXACT [Orphanet:667] synonym: "autosomal recessive osteopetrosis" EXACT [NCIT:C129733] @@ -365142,6 +381366,7 @@ synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667] synonym: "malignant osteopetrosis" RELATED [NCIT:C129733] synonym: "OPTB" EXACT ABBREVIATION [] synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:15012 {source="Orphanet:667"} xref: ICD10CM:Q78.2 {source="Orphanet:667", source="Orphanet:667/attributed", source="Orphanet:667/ntbt"} xref: NCIT:C129733 {source="MONDO:equivalentTo"} xref: OMIMPS:259700 {source="MONDO:equivalentTo"} @@ -365178,7 +381403,9 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:669"} ! X-link id: MONDO:0019028 name: amoebiasis due to Entamoeba histolytica def: "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." [Orphanet:67] +subset: gard_rare {source="GARD:18675"} subset: ordo_disease {source="Orphanet:67"} +xref: GARD:18675 {source="Orphanet:67"} xref: ICD10CM:A06.0 {source="Orphanet:67", source="Orphanet:67/btnt"} xref: ICD10CM:A06.1 {source="Orphanet:67", source="Orphanet:67/btnt"} xref: ICD10CM:A06.2 {source="Orphanet:67", source="Orphanet:67/btnt"} @@ -365199,8 +381426,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare id: MONDO:0019029 name: segmental odontomaxillary dysplasia def: "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." [Orphanet:67039] +subset: gard_rare {source="GARD:18872"} subset: ordo_disease {source="Orphanet:67039"} synonym: "SOD" EXACT ABBREVIATION [Orphanet:67039] +xref: GARD:18872 {source="Orphanet:67039"} xref: ICD10CM:K00.4 {source="Orphanet:67039", source="Orphanet:67039/ntbt"} xref: ICD9:524.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:67039 {source="MONDO:equivalentTo"} @@ -365217,12 +381446,14 @@ replaced_by: MONDO:0005629 id: MONDO:0019031 name: thrombocytopenia with congenital dyserythropoietic anemia def: "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." [Orphanet:67044] +subset: gard_rare {source="GARD:16676"} subset: ordo_disease {source="Orphanet:67044"} synonym: "congenital dyserythropoietic anaemia with thombocytopenia" EXACT OMO:0003005 [] synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044] synonym: "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" EXACT OMO:0003005 [] synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044] synonym: "XDAT" EXACT ABBREVIATION [Orphanet:67044] +xref: GARD:16676 {source="Orphanet:67044"} xref: ICD10CM:D69.4 {source="Orphanet:67044", source="Orphanet:67044/attributed", source="Orphanet:67044/ntbt"} xref: Orphanet:67044 {source="MONDO:equivalentTo"} xref: SCTID:722475006 {source="MONDO:equivalentTo"} @@ -365236,8 +381467,10 @@ property_value: confidence "5.6923076923076925" xsd:double [Term] id: MONDO:0019032 name: X-linked intellectual disability with isolated growth hormone deficiency +subset: gard_rare {source="GARD:16677"} subset: ordo_clinical_subtype {source="Orphanet:67045"} synonym: "MRGH" EXACT ABBREVIATION [Orphanet:67045] +xref: GARD:16677 {source="Orphanet:67045"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:67045/attributed", source="Orphanet:67045/ntbt", source="Orphanet:67045"} xref: Orphanet:67045 {source="MONDO:equivalentTo"} xref: UMLS:C1848068 {source="MONDO:equivalentTo", source="Orphanet:67045"} @@ -365250,9 +381483,10 @@ id: MONDO:0019033 name: primary cutis verticis gyrata def: "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." [Orphanet:671] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:1643"} subset: ordo_group_of_disorders {source="Orphanet:671"} synonym: "cutis verticis gyrata" EXACT [] +xref: GARD:1643 {source="Orphanet:671"} xref: ICD10CM:Q82.8 {source="Orphanet:671/ntbt", source="Orphanet:671"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"} @@ -365265,9 +381499,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1643/cutis-v id: MONDO:0019034 name: accessory pancreas def: "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." [Orphanet:674] -subset: gard_rare {source="GARD:0000454"} +subset: gard_rare {source="GARD:454"} subset: ordo_morphological_anomaly {source="Orphanet:674"} synonym: "pancreas accessorium" RELATED [GARD:0000454] +xref: GARD:454 {source="Orphanet:674"} xref: ICD10CM:Q45.3 {source="Orphanet:674/ntbt", source="Orphanet:674/inclusion", source="Orphanet:674"} xref: MESH:C536003 {source="Orphanet:674/e", source="MONDO:equivalentTo", source="Orphanet:674"} xref: Orphanet:674 {source="MONDO:equivalentTo"} @@ -365281,12 +381516,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/454/accessor id: MONDO:0019035 name: pancreatoblastoma def: "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." [Orphanet:677] -subset: gard_rare {source="GARD:0004210"} +subset: gard_rare {source="GARD:4210"} subset: ordo_disease {source="Orphanet:677"} synonym: "pancreatoblastoma (morphologic abnormality)" EXACT [DOID:6823] synonym: "PB" RELATED ABBREVIATION [ONCOTREE:PB] xref: DOID:6823 {source="MONDO:equivalentTo"} xref: EFO:1000446 {source="MONDO:equivalentTo"} +xref: GARD:4210 {source="Orphanet:677"} xref: ICD10CM:C25.1 {source="Orphanet:677/ntbt", source="Orphanet:677"} xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="Orphanet:677/e"} xref: NCIT:C4265 {source="MONDO:equivalentTo", source="DOID:6823"} @@ -365302,8 +381538,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4210/pancrea id: MONDO:0019036 name: amoebiasis due to free-living amoebae def: "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." [https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae] -subset: gard_rare {source="GARD:0012650"} +subset: gard_rare {source="GARD:12650"} subset: ordo_disease {source="Orphanet:68"} +xref: GARD:12650 {source="Orphanet:68"} xref: ICD10CM:B60.1 {source="Orphanet:68/btnt", source="Orphanet:68"} xref: ICD10CM:B60.2 {source="Orphanet:68/btnt", source="Orphanet:68"} xref: Orphanet:68 {source="MONDO:equivalentTo"} @@ -365316,6 +381553,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12650/amoebi id: MONDO:0019037 name: progressive supranuclear palsy def: "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." [https://orcid.org/0000-0001-5208-3432, Orphanet:683] +subset: gard_rare {source="GARD:7471"} subset: ordo_disease {source="Orphanet:683"} synonym: "familial progressive supranuclear palsy (type)" RELATED [GARD:0007471] synonym: "progressive supranuclear ophthalmoplegia" EXACT [DOID:678] @@ -365323,6 +381561,7 @@ synonym: "PSP syndrome" EXACT [Orphanet:683] synonym: "Steele-Richardson-Olszewski syndrome" NARROW [DOID:678] synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} +xref: GARD:7471 {source="Orphanet:683"} xref: ICD10CM:G23.1 {source="Orphanet:683/e", source="DOID:678", source="Orphanet:683/specific", source="Orphanet:683"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"} @@ -365349,8 +381588,10 @@ relationship: has_characteristic MONDO:0021136 ! rare id: MONDO:0019038 name: obsolete rare maxillo-facial surgical disease subset: disease_grouping +subset: gard_rare {source="GARD:22507"} subset: ordo_group_of_disorders {source="Orphanet:68329"} synonym: "rare maxillofacial anomaly" EXACT [Orphanet:68329] +xref: GARD:22507 {source="MONDO:obsoleteEquivalent", source="Orphanet:68329"} xref: Orphanet:68329 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205523 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -365362,9 +381603,11 @@ is_obsolete: true id: MONDO:0019039 name: obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect subset: disease_grouping +subset: gard_rare {source="GARD:18873"} subset: ordo_group_of_disorders {source="Orphanet:68334"} synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] +xref: GARD:18873 {source="MONDO:obsoleteEquivalent", source="Orphanet:68334"} xref: Orphanet:68334 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227563 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -365377,6 +381620,7 @@ id: MONDO:0019040 name: chromosomal disorder def: "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" [MESH:D025063] subset: disease_grouping +subset: gard_rare {source="GARD:18874"} subset: ordo_group_of_disorders {source="Orphanet:68335"} subset: rare_grouping synonym: "autosomal chromosome disorder" RELATED [MESH:D025063] @@ -365396,6 +381640,7 @@ synonym: "disorder, chromosome abnormality" RELATED [MESH:D025063] synonym: "disorders, chromosomal" EXACT [MESH:D025063] synonym: "disorders, chromosome" EXACT [MESH:D025063] xref: DOID:0080014 {source="MONDO:equivalentTo"} +xref: GARD:18874 {source="Orphanet:68335"} xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q90-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -365415,8 +381660,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare id: MONDO:0019041 name: obsolete rare genetic inherited tumor subset: disease_grouping +subset: gard_rare {source="GARD:18875"} subset: ordo_group_of_disorders {source="Orphanet:68336"} synonym: "rare genetic tumor" RELATED [Orphanet:68336] +xref: GARD:18875 {source="Orphanet:68336", source="MONDO:obsoleteEquivalent"} xref: Orphanet:68336 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205525 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365427,8 +381674,10 @@ replaced_by: MONDO:0005070 id: MONDO:0019042 name: multiple congenital anomalies/dysmorphic syndrome subset: disease_grouping +subset: gard_rare {source="GARD:18876"} subset: ordo_group_of_disorders {source="Orphanet:68341"} synonym: "MCAHS" RELATED ABBREVIATION [MONDO:Lexical] +xref: GARD:18876 {source="Orphanet:68341"} xref: Orphanet:68341 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:68341"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -365438,8 +381687,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019043 name: obsolete rare genetic skin disease subset: disease_grouping +subset: gard_rare {source="GARD:18877"} subset: ordo_group_of_disorders {source="Orphanet:68346"} synonym: "rare genodermatosis" EXACT [Orphanet:68346] +xref: GARD:18877 {source="MONDO:obsoleteEquivalent", source="Orphanet:68346"} xref: Orphanet:68346 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0037277 {source="Orphanet:68346"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365449,6 +381700,8 @@ replaced_by: MONDO:0005093 [Term] id: MONDO:0019044 name: obsolete tumor of hematopoietic and lymphoid tissues +subset: gard_rare {source="GARD:18878"} +xref: GARD:18878 {source="Orphanet:68347", source="MONDO:obsoleteEquivalent"} xref: Orphanet:68347 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205528 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -365462,10 +381715,12 @@ id: MONDO:0019045 name: obsolete rare sleep disorder def: "OBSOLETE. A rare form of sleep disorder." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping +subset: gard_rare {source="GARD:18879"} subset: ordo_group_of_disorders {source="Orphanet:68354"} synonym: "rare sleep disorder" EXACT [MONDO:patterns/rare] synonym: "rare sleep wake disorder" EXACT [MONDO:patterns/rare] synonym: "rare sleep-wake disorder" EXACT [MONDO:patterns/rare] +xref: GARD:18879 {source="MONDO:obsoleteEquivalent", source="Orphanet:68354"} xref: MedDRA:10040984 {source="Orphanet:68354/e", source="Orphanet:68354"} xref: MESH:D012893 {source="MONDO:relatedTo", source="Orphanet:68354/e", source="Orphanet:68354"} xref: Orphanet:68354 {source="MONDO:obsoleteEquivalent"} @@ -365480,7 +381735,7 @@ name: leukodystrophy def: "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." [https://rarediseases.org/rare-diseases/leukodystrophy/] comment: Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' subset: disease_grouping -subset: gard_rare {source="GARD:0006895"} +subset: gard_rare {source="GARD:6895"} subset: merged_class subset: ordo_group_of_disorders {source="Orphanet:68356"} synonym: "HLD" EXACT ABBREVIATION [DOID:0060786] @@ -365490,6 +381745,7 @@ synonym: "leukodystrophy, hypomyelinating" RELATED [OMIMPS:312080] xref: DOID:0050987 {source="MONDO:equivalentTo"} xref: DOID:0060786 {source="MONDO:equivalentTo"} xref: DOID:10579 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:6895 {source="Orphanet:68356"} xref: ICD10CM:E75.2 {source="Orphanet:68356/index", source="Orphanet:68356/ntbt", source="Orphanet:68356"} xref: ICD9:330.0 {source="DOID:10579", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10024381 {source="Orphanet:68356/e", source="Orphanet:68356"} @@ -365513,10 +381769,12 @@ id: MONDO:0019047 name: obsolete rare deafness def: "OBSOLETE. Any of the forms of hearing loss that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:18880"} subset: ordo_group_of_disorders {source="Orphanet:68361"} synonym: "complete deafness" EXACT [NCIT:C36194] synonym: "rare hearing loss" EXACT [MONDO:patterns/rare] synonym: "total deafness" EXACT [NCIT:C36194] +xref: GARD:18880 {source="MONDO:obsoleteEquivalent", source="Orphanet:68361"} xref: NCIT:C36194 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68361 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0581883 {source="Orphanet:68361"} @@ -365531,8 +381789,10 @@ id: MONDO:0019048 name: obsolete rare vascular disease def: "OBSOLETE. Any of the forms of vascular disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:18881"} subset: ordo_group_of_disorders {source="Orphanet:68362"} synonym: "rare vascular disease" EXACT [MONDO:patterns/rare] +xref: GARD:18881 {source="MONDO:obsoleteEquivalent", source="Orphanet:68362"} xref: Orphanet:68362 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0042373 {source="Orphanet:68362"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365544,10 +381804,12 @@ id: MONDO:0019049 name: obsolete rare dystonia def: "OBSOLETE. Rare dystonia." [] subset: disease_grouping +subset: gard_rare {source="GARD:18882"} subset: ordo_group_of_disorders {source="Orphanet:68363"} synonym: "rare dystonia" EXACT [] synonym: "rare dystonia (disease)" EXACT [MONDO:patterns/rare] synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare, Orphanet:68363] +xref: GARD:18882 {source="MONDO:obsoleteEquivalent", source="Orphanet:68363"} xref: Orphanet:68363 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0393593 {source="Orphanet:68363"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365559,12 +381821,14 @@ id: MONDO:0019050 name: inherited hemoglobinopathy def: "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." [NCIT:C3092] subset: disease_grouping +subset: gard_rare {source="GARD:18883"} subset: ordo_group_of_disorders {source="Orphanet:68364"} synonym: "hemoglobinopathies" EXACT [DOID:2860] synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092] synonym: "hemoglobinopathy" RELATED [DOID:2860] synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary] xref: DOID:2860 {source="MONDO:equivalentTo"} +xref: GARD:18883 {source="Orphanet:68364"} xref: ICD10CM:D56.0 {source="Orphanet:68364", source="Orphanet:68364/btnt"} xref: ICD10CM:D56.1 {source="Orphanet:68364", source="Orphanet:68364/btnt"} xref: ICD10CM:D56.2 {source="Orphanet:68364", source="Orphanet:68364/btnt"} @@ -365610,6 +381874,7 @@ name: inborn errors of metabolism def: "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." [https://github.com/monarch-initiative/mondo/issues/1483, MONDO:cjm, NCIT:C34816] comment: Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 subset: disease_grouping +subset: gard_rare {source="GARD:22508"} subset: ordo_group_of_disorders {source="Orphanet:68367"} synonym: "congenital metabolic disorder" EXACT [NCIT:C34816] synonym: "congenital metabolism disorder" EXACT [NCIT:C34816] @@ -365627,6 +381892,7 @@ synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367] synonym: "rare inherited metabolic disorder" NARROW [] synonym: "rare metabolic disease" RELATED [Orphanet:68367] xref: DOID:655 {source="MONDO:equivalentTo"} +xref: GARD:22508 {source="Orphanet:68367"} xref: MedDRA:10058097 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MedDRA:10062018 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MESH:D008659 {source="Orphanet:68367/e", source="Orphanet:68367"} @@ -365648,12 +381914,14 @@ id: MONDO:0019053 name: peroxisomal disease def: "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia." [https://clinicalgenome.org/affiliation/40049/, NCIT:C85005] subset: disease_grouping +subset: gard_rare {source="GARD:18885"} subset: ordo_group_of_disorders {source="Orphanet:68373"} synonym: "disorder of peroxisomal function" EXACT [NCIT:C85005] synonym: "peroxisomal disease" EXACT CLINGEN_PREFERRED [NCIT:C85005] synonym: "peroxisomal disorder" EXACT [DOID:906, ICD9CM:277.86, NCIT:C85005] synonym: "peroxisomal function disorder" EXACT [NCIT:C85005] xref: DOID:906 {source="MONDO:equivalentTo"} +xref: GARD:18885 {source="Orphanet:68373"} xref: ICD10CM:E71.5 {source="DOID:906"} xref: ICD10CM:E71.50 {source="DOID:906"} xref: ICD9:277.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:906"} @@ -365673,8 +381941,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019054 name: congenital limb malformation subset: disease_grouping +subset: gard_rare {source="GARD:18886"} subset: ordo_group_of_disorders {source="Orphanet:68378"} synonym: "congenital limb malformation" EXACT CLINGEN_PREFERRED [] +xref: GARD:18886 {source="Orphanet:68378"} xref: Orphanet:68378 {source="MONDO:equivalentTo"} xref: UMLS:C0206762 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:68378"} is_a: MONDO:0019755 {source="Orphanet:68378"} ! developmental defect during embryogenesis @@ -365694,11 +381964,13 @@ id: MONDO:0019056 name: neuromuscular disease def: "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" [Wikipedia:Neuromuscular_disease] subset: disease_grouping +subset: gard_rare {source="GARD:18888"} subset: ordo_group_of_disorders {source="Orphanet:68381"} synonym: "nerve and muscle disorder" EXACT [ISBN-13:978-1-259-64403-0] synonym: "neuromuscular disease" EXACT [MONDO:0002986] xref: DOID:440 {source="MONDO:equivalentTo"} xref: EFO:1001902 {source="MONDO:equivalentTo"} +xref: GARD:18888 {source="Orphanet:68381"} xref: ICD10CM:G70-G73 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G70.9 {source="DOID:440"} xref: ICD9:358 {source="DOID:440"} @@ -365724,7 +381996,9 @@ replaced_by: MONDO:0001713 [Term] id: MONDO:0019058 name: obsolete neurometabolic disease +subset: gard_rare {source="GARD:18890"} subset: ordo_group_of_disorders {source="Orphanet:68385"} +xref: GARD:18890 {source="MONDO:obsoleteEquivalent", source="Orphanet:68385"} xref: Orphanet:68385 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"} @@ -365737,9 +382011,11 @@ id: MONDO:0019059 name: obsolete rare parkinsonian disorder def: "OBSOLETE. Rare parkinsonian disorder." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:18891"} subset: ordo_group_of_disorders {source="Orphanet:68402"} synonym: "rare hypokinetic movement disorder" EXACT [Orphanet:68402] synonym: "rare parkinsonian disorder" EXACT [MONDO:patterns/rare] +xref: GARD:18891 {source="Orphanet:68402", source="MONDO:obsoleteEquivalent"} xref: Orphanet:68402 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0242422 {source="Orphanet:68402"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365751,6 +382027,7 @@ id: MONDO:0019060 name: bone neoplasm def: "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." [NCIT:C9343] subset: disease_grouping +subset: gard_rare {source="GARD:18892"} subset: ordo_group_of_disorders {source="Orphanet:68411"} synonym: "bone neoplasm" EXACT [NCIT:C9343] synonym: "bone neoplasms" EXACT [NCIT:C9343] @@ -365777,6 +382054,7 @@ synonym: "tumor of the bone" EXACT [NCIT:C9343] synonym: "tumour of bone" EXACT OMO:0003005 [] synonym: "tumour of bone tissue" EXACT OMO:0003005 [] synonym: "tumour of the bone" EXACT OMO:0003005 [] +xref: GARD:18892 {source="Orphanet:68411"} xref: ICD10CM:C40-C41 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C12366 {source="ONCOTREE:BONE"} xref: NCIT:C9343 {source="MONDO:equivalentTo"} @@ -365795,7 +382073,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684", source=" id: MONDO:0019061 name: obsolete rare parathyroid disease and phosphocalcic metabolism anomaly subset: disease_grouping +subset: gard_rare {source="GARD:18893"} subset: ordo_group_of_disorders {source="Orphanet:68415"} +xref: GARD:18893 {source="Orphanet:68415", source="MONDO:obsoleteEquivalent"} xref: Orphanet:68415 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205542 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -365808,8 +382088,10 @@ id: MONDO:0019062 name: obsolete rare infectious disease def: "OBSOLETE. Rare infectious disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22509"} subset: ordo_group_of_disorders {source="Orphanet:68416"} synonym: "rare infectious disease" EXACT [MONDO:patterns/rare] +xref: GARD:22509 {source="Orphanet:68416", source="MONDO:obsoleteEquivalent"} xref: Orphanet:68416 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205543 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365819,7 +382101,9 @@ replaced_by: MONDO:0005550 [Term] id: MONDO:0019063 name: obsolete vascular anomaly +subset: gard_rare {source="GARD:18894"} synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419] +xref: GARD:18894 {source="MONDO:obsoleteEquivalent", source="Orphanet:68419"} xref: Orphanet:68419 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419"} ! obsolete rare circulatory system disease @@ -365833,7 +382117,7 @@ id: MONDO:0019064 name: hereditary spastic paraplegia def: "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." [Orphanet:685] subset: disease_grouping -subset: gard_rare {source="GARD:0006637"} +subset: gard_rare {source="GARD:6637"} subset: ordo_group_of_disorders {source="Orphanet:685"} synonym: "familial spastic paraparesis" RELATED [GARD:0006637] synonym: "familial spastic paraplegia" EXACT [DOID:2476, Orphanet:685] @@ -365846,6 +382130,7 @@ synonym: "SPG" EXACT ABBREVIATION [Orphanet:685] synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476] synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685] xref: DOID:2476 {source="MONDO:equivalentTo"} +xref: GARD:6637 {source="Orphanet:685"} xref: ICD10CM:G11.4 {source="Orphanet:685/specific", source="Orphanet:685/e", source="DOID:2476", source="MONDO:equivalentTo", source="Orphanet:685"} xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019903 {source="Orphanet:685/e", source="Orphanet:685"} @@ -365872,6 +382157,7 @@ id: MONDO:0019065 name: amyloidosis def: "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." [NCIT:C2868] subset: disease_grouping +subset: gard_rare {source="GARD:18676"} subset: ordo_group_of_disorders {source="Orphanet:69"} synonym: "amyloid" EXACT [NCIT:C2868] synonym: "amyloid disease" EXACT [DOID:9120] @@ -365880,6 +382166,7 @@ synonym: "amyloidosis" EXACT [MONDO:ambiguous] synonym: "amyloidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0004711] xref: DOID:9120 {source="MONDO:equivalentTo"} xref: EFO:1001875 {source="MONDO:equivalentTo"} +xref: GARD:18676 {source="Orphanet:69"} xref: HP:0011034 {source="MONDO:otherHierarchy"} xref: ICD10CM:E85 {source="DOID:9120"} xref: ICD10CM:E85.0 {source="Orphanet:69/btnt", source="Orphanet:69"} @@ -365908,8 +382195,10 @@ id: MONDO:0019066 name: obsolete syndrome with brachydactyly def: "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." [Orphanet:69028] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:18895"} subset: ordo_group_of_disorders {source="Orphanet:69028"} synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028] +xref: GARD:18895 {source="MONDO:obsoleteEquivalent", source="Orphanet:69028"} xref: ICD10CM:Q73.8 {source="Orphanet:69028/attributed", source="Orphanet:69028/ntbt", source="Orphanet:69028"} xref: Orphanet:69028 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205546 {source="MONDO:obsoleteEquivalent"} @@ -365922,7 +382211,9 @@ consider: MONDO:0002254 id: MONDO:0019067 name: idiopathic steroid-sensitive nephrotic syndrome def: "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." [Orphanet:69061] +subset: gard_rare {source="GARD:16678"} subset: ordo_clinical_syndrome {source="Orphanet:69061"} +xref: GARD:16678 {source="Orphanet:69061"} xref: ICD10CM:N04.0 {source="Orphanet:69061/attributed", source="Orphanet:69061/ntbt", source="Orphanet:69061"} xref: Orphanet:69061 {source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="Orphanet:69061"} ! idiopathic nephrotic syndrome @@ -365931,6 +382222,7 @@ is_a: MONDO:0018170 {source="Orphanet:69061"} ! idiopathic nephrotic syndrome id: MONDO:0019068 name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization def: "A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:69063] +subset: gard_rare {source="GARD:18896"} subset: ordo_disease {source="Orphanet:69063"} synonym: "alloimmune neonatal renal disease" EXACT [Orphanet:69063] synonym: "fetomaternal alloimmunization with antenatal glomerulopathies" EXACT [Orphanet:69063] @@ -365939,6 +382231,7 @@ synonym: "neonatal glomerulopathy due to Neprilysin alloimmunization" EXACT [Orp synonym: "neonatal glomerulopathy due to neprilysin alloimmunization" EXACT [Orphanet:69063] synonym: "neonatal membranous glomerulopathy with maternal NEP deficiency" EXACT [Orphanet:69063] synonym: "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency" EXACT [Orphanet:69063] +xref: GARD:18896 {source="Orphanet:69063"} xref: ICD10CM:P96.0 {source="Orphanet:69063", source="Orphanet:69063/ntbt"} xref: Orphanet:69063 {source="MONDO:equivalentTo"} xref: SCTID:725592009 {source="MONDO:equivalentTo"} @@ -365963,11 +382256,13 @@ replaced_by: MONDO:0005060 id: MONDO:0019071 name: pure hair and nail ectodermal dysplasia def: "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." [Orphanet:69084] +subset: gard_rare {source="GARD:16680"} subset: ordo_malformation_syndrome {source="Orphanet:69084"} synonym: "hair-nail ectodermal dysplasia" EXACT [Orphanet:69084] synonym: "HNED" EXACT ABBREVIATION [Orphanet:69084] synonym: "PHNED" EXACT ABBREVIATION [Orphanet:69084] xref: DOID:0111655 {source="MONDO:equivalentTo"} +xref: GARD:16680 {source="Orphanet:69084"} xref: Orphanet:69084 {source="MONDO:equivalentTo"} xref: UMLS:C1865951 {source="Orphanet:69084", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019287 {source="Orphanet:69084"} ! ectodermal dysplasia syndrome @@ -365994,12 +382289,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare [Term] id: MONDO:0019073 name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +subset: gard_rare {source="GARD:2492"} synonym: "glomerulonephritis with sparse hair and telangiectases" RELATED [OMIM:137940] synonym: "HLTRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137940] synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [Orphanet:69735] synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" EXACT [MONDO:Lexical, OMIM:137940] synonym: "telangiectatic membranoproliferative glomerulonephritis" RELATED [OMIM:137940] xref: DOID:0111360 {source="MONDO:equivalentTo"} +xref: GARD:2492 {source="OMIM:137940"} xref: MESH:C536825 {source="MONDO:equivalentTo"} xref: OMIM:137940 {source="Orphanet:69735", source="MONDO:equivalentTo"} xref: UMLS:C1841989 {source="OMIM:137940", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -366012,8 +382309,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0019074 name: bilateral acute depigmentation of the iris def: "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure." [Orphanet:69736] +subset: gard_rare {source="GARD:18897"} subset: ordo_disease {source="Orphanet:69736"} synonym: "BADI" EXACT ABBREVIATION [Orphanet:69736] +xref: GARD:18897 {source="Orphanet:69736"} xref: Orphanet:69736 {source="MONDO:equivalentTo"} xref: SCTID:720460007 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease @@ -366025,8 +382324,10 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019075 name: Bosley-Salih-Alorainy syndrome def: "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." [Orphanet:69737] +subset: gard_rare {source="GARD:16684"} subset: ordo_malformation_syndrome {source="Orphanet:69737"} synonym: "BSAS" EXACT [OMIM:601536] +xref: GARD:16684 {source="Orphanet:69737"} xref: ICD10CM:Q87.8 {source="Orphanet:69737/attributed", source="Orphanet:69737/ntbt", source="Orphanet:69737"} xref: OMIM:601536 {source="Orphanet:69737/ntbt", source="Orphanet:69737", source="MONDO:includedEntryInOMIM"} xref: Orphanet:69737 {source="MONDO:equivalentTo"} @@ -366043,7 +382344,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019076 name: circumscribed palmoplantar hypokeratosis def: "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin." [Orphanet:69744] +subset: gard_rare {source="GARD:18898"} subset: ordo_disease {source="Orphanet:69744"} +xref: GARD:18898 {source="Orphanet:69744"} xref: Orphanet:69744 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome @@ -366051,9 +382354,11 @@ is_a: MONDO:0019287 {source="https://orcid.org/0000-0001-5208-3432"} ! ectoderma id: MONDO:0019077 name: warty dyskeratoma def: "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." [NCIT:C4087] +subset: gard_rare {source="GARD:18899"} subset: ordo_disease {source="Orphanet:69745"} synonym: "follicular dyskeratoma" EXACT [Orphanet:69745] synonym: "isolated follicular keratosis" EXACT [NCIT:C4087] +xref: GARD:18899 {source="Orphanet:69745"} xref: MedDRA:10068856 {source="Orphanet:69745", source="Orphanet:69745/e"} xref: NCIT:C4087 {source="MONDO:equivalentTo"} xref: Orphanet:69745 {source="MONDO:equivalentTo"} @@ -366066,7 +382371,7 @@ is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4087/inferred"} ! ep id: MONDO:0019078 name: Ritscher-Schinzel syndrome def: "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." [Orphanet:7] -subset: gard_rare +subset: gard_rare {source="GARD:5666"} subset: ordo_malformation_syndrome {source="Orphanet:7"} synonym: "3C syndrome" EXACT [DOID:0060565, GARD:0005666] synonym: "CCC dysplasia" EXACT [DOID:0060565, MESH:C535313] @@ -366080,6 +382385,7 @@ synonym: "Ritscher Schinzel syndrome" RELATED [GARD:0005666, MESH:C535313] synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:0005666] synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7] xref: DOID:0060565 {source="MONDO:equivalentTo"} +xref: GARD:5666 {source="Orphanet:7"} xref: ICD10CM:Q87.8 {source="Orphanet:7", source="Orphanet:7/attributed", source="Orphanet:7/ntbt", source="DOID:0060565"} xref: MESH:C535313 {source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"} xref: OMIMPS:220210 {source="DOID:0060565", source="MONDO:equivalentTo"} @@ -366100,10 +382406,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5666/dandy-w id: MONDO:0019079 name: proximal spinal muscular atrophy def: "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:70] -subset: gard_rare {source="GARD:0004531"} +subset: gard_rare {source="GARD:4531"} subset: ordo_disease {source="Orphanet:70"} synonym: "SMA" EXACT ABBREVIATION [Orphanet:70] xref: EFO:0008929 {source="MONDO:equivalentTo"} +xref: GARD:4531 {source="Orphanet:70"} xref: ICD10CM:G12.0 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"} xref: ICD10CM:G12.1 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"} xref: Orphanet:70 {source="MONDO:equivalentTo"} @@ -366117,9 +382424,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4531/proxima id: MONDO:0019080 name: alopecia totalis def: "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." [Orphanet:700] +subset: gard_rare {source="GARD:613"} subset: ordo_disease {source="Orphanet:700"} synonym: "alopecia totalis" EXACT [] synonym: "total alopecia areata" RELATED [] +xref: GARD:613 {source="Orphanet:700"} xref: ICD10CM:L63.0 {source="Orphanet:700", source="Orphanet:700/e", source="Orphanet:700/specific"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001766 {source="Orphanet:700", source="Orphanet:700/e"} @@ -366139,6 +382448,7 @@ replaced_by: MONDO:0008757 id: MONDO:0019082 name: bullous pemphigoid def: "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." [Orphanet:703] +subset: gard_rare {source="GARD:5972"} subset: ordo_disease {source="Orphanet:703"} synonym: "benign pemphigus" RELATED [GARD:0005972] synonym: "bullous pemphigoid" EXACT [DOID:8506, MONDO:0005685, MTH:NOCODE] @@ -366148,6 +382458,7 @@ synonym: "pemphigoid" RELATED EXCLUDE [GARD:0005972] synonym: "senile dermatitis herpetiformis" RELATED [GARD:0005972] xref: DOID:8506 {source="MONDO:equivalentTo", source="EFO:0007187"} xref: EFO:0007187 {source="MONDO:equivalentTo"} +xref: GARD:5972 {source="Orphanet:703"} xref: ICD10CM:L12 {source="DOID:8506"} xref: ICD10CM:L12.0 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e"} xref: ICD10CM:L12.9 {source="DOID:8506"} @@ -366167,10 +382478,12 @@ relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin [Term] id: MONDO:0019083 name: Leigh syndrome with cardiomyopathy +subset: gard_rare {source="GARD:16685"} subset: ordo_disease {source="Orphanet:70474"} synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474] synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474] synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474] +xref: GARD:16685 {source="Orphanet:70474"} xref: ICD10CM:G31.8 {source="Orphanet:70474/attributed", source="Orphanet:70474/ntbt", source="Orphanet:70474"} xref: Orphanet:70474 {source="MONDO:equivalentTo"} xref: UMLS:CN205578 {source="MONDO:equivalentTo"} @@ -366183,7 +382496,9 @@ property_value: confidence "1.3333333333333335" xsd:double id: MONDO:0019084 name: radiation proctitis def: "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." [Orphanet:70475] +subset: gard_rare {source="GARD:18900"} subset: ordo_disease {source="Orphanet:70475"} +xref: GARD:18900 {source="Orphanet:70475"} xref: ICD10CM:K62.7 {source="Orphanet:70475", source="MONDO:equivalentTo", source="Orphanet:70475/e"} xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037766 {source="Orphanet:70475", source="Orphanet:70475/e"} @@ -366199,10 +382514,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare id: MONDO:0019085 name: vernal keratoconjunctivitis def: "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." [https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis] -subset: gard_rare {source="GARD:0007854"} +subset: gard_rare {source="GARD:7854"} subset: ordo_disease {source="Orphanet:70476"} synonym: "Spring catarrh" EXACT [Orphanet:70476] synonym: "VKC" RELATED ABBREVIATION [GARD:0007854] +xref: GARD:7854 {source="Orphanet:70476"} xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="Orphanet:70476/ntbt"} xref: Orphanet:70476 {source="MONDO:equivalentTo"} xref: SCTID:317349009 {source="MONDO:equivalentTo"} @@ -366215,6 +382531,7 @@ id: MONDO:0019086 name: carcinoma of esophagus def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." [Orphanet:70482] subset: disease_grouping +subset: gard_rare {source="GARD:6383"} subset: ordo_group_of_disorders {source="Orphanet:70482"} synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513] synonym: "cancer of oesophagus" NARROW OMO:0003005 [] @@ -366230,6 +382547,7 @@ synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513] synonym: "oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:1107 {source="MONDO:equivalentTo"} xref: EFO:0002916 {source="MONDO:equivalentTo", source="DOID:1107"} +xref: GARD:6383 {source="Orphanet:70482"} xref: MedDRA:10030155 {source="Orphanet:70482", source="Orphanet:70482/e"} xref: NCIT:C3513 {source="MONDO:equivalentTo", source="DOID:1107"} xref: Orphanet:70482 {source="MONDO:equivalentTo"} @@ -366249,6 +382567,7 @@ intersection_of: disease_has_location UBERON:0001043 ! esophagus id: MONDO:0019087 name: cholangiocarcinoma def: "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C4436] +subset: gard_rare {source="GARD:9304"} subset: ordo_disease {source="Orphanet:70567"} synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947, NCIT:C8265] synonym: "adult primary cholangiocellular carcinoma" EXACT [DOID:4947] @@ -366264,6 +382583,7 @@ synonym: "cholangiosarcoma" EXACT [DOID:4947, NCIT:C4436] synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" BROAD [NCIT:C4436] xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"} xref: EFO:0005221 {source="MONDO:equivalentTo"} +xref: GARD:9304 {source="Orphanet:70567"} xref: ICD10CM:C22.1 {source="Orphanet:70567", source="DOID:4947", source="Orphanet:70567/e"} xref: ICD10CM:C24.0 {source="Orphanet:70567", source="Orphanet:70567/btnt"} xref: ICD10CM:C24.8 {source="Orphanet:70567", source="Orphanet:70567/btnt"} @@ -366292,10 +382612,11 @@ intersection_of: disease_arises_from_structure UBERON:0002394 ! bile duct id: MONDO:0019088 name: post-transplant lymphoproliferative disease def: "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" [NCIT:P378] -subset: gard_rare {source="GARD:0009553"} +subset: gard_rare {source="GARD:9553"} subset: ordo_disease {source="Orphanet:70568"} synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727] synonym: "PTLD" EXACT ABBREVIATION [Orphanet:70568] +xref: GARD:9553 {source="Orphanet:70568"} xref: ICD10CM:D47.9 {source="Orphanet:70568/ntbt", source="Orphanet:70568"} xref: ICDO:9971/1 {source="NCIT:C4727"} xref: MedDRA:10051358 {source="Orphanet:70568/e", source="Orphanet:70568"} @@ -366326,10 +382647,11 @@ replaced_by: MONDO:0006851 id: MONDO:0019091 name: bronchopulmonary dysplasia def: "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." [Orphanet:70589] -subset: gard_rare {source="GARD:0005962"} +subset: gard_rare {source="GARD:5962"} subset: ordo_malformation_syndrome {source="Orphanet:70589"} synonym: "BPD" EXACT ABBREVIATION [Orphanet:70589] xref: DOID:11650 {source="MONDO:equivalentTo"} +xref: GARD:5962 {source="Orphanet:70589"} xref: ICD10CM:P27.1 {source="Orphanet:70589", source="Orphanet:70589/e"} xref: MedDRA:10006475 {source="Orphanet:70589", source="Orphanet:70589/e"} xref: MESH:D001997 {source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"} @@ -366347,8 +382669,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5962/broncho id: MONDO:0019092 name: infantile apnea def: "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." [Orphanet:70590] +subset: gard_rare {source="GARD:6779"} subset: ordo_disease {source="Orphanet:70590"} synonym: "apnea of infancy" EXACT [Orphanet:70590] +xref: GARD:6779 {source="Orphanet:70590"} xref: Orphanet:70590 {source="MONDO:equivalentTo"} xref: SCTID:724229002 {source="MONDO:equivalentTo"} xref: UMLS:C0745261 {source="MONDO:equivalentTo"} @@ -366360,8 +382684,10 @@ relationship: has_characteristic HP:0003593 ! Infantile onset id: MONDO:0019093 name: immunodeficiency due to selective anti-polysaccharide antibody deficiency def: "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." [Orphanet:70593] +subset: gard_rare {source="GARD:11903"} subset: ordo_disease {source="Orphanet:70593"} synonym: "specific antibody deficiency" RELATED [GARD:0011903] +xref: GARD:11903 {source="Orphanet:70593"} xref: ICD10CM:D80.8 {source="Orphanet:70593/attributed", source="Orphanet:70593/ntbt", source="Orphanet:70593"} xref: Orphanet:70593 {source="MONDO:equivalentTo"} xref: SCTID:234556002 {source="MONDO:equivalentTo"} @@ -366372,11 +382698,13 @@ is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodef id: MONDO:0019094 name: congenital Epstein-Barr virus infection def: "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." [Orphanet:70596] +subset: gard_rare {source="GARD:18903"} subset: ordo_disease {source="Orphanet:70596"} synonym: "antenatal EBV infection" EXACT [Orphanet:70596] synonym: "antenatal Epstein-Barr virus infection" EXACT [Orphanet:70596] synonym: "congenital EBV infection" EXACT [Orphanet:70596] synonym: "mother-to-child transmission of Epstein-Barr virus infection" EXACT [Orphanet:70596] +xref: GARD:18903 {source="Orphanet:70596"} xref: ICD10CM:P35.8 {source="Orphanet:70596/ntbt", source="Orphanet:70596"} xref: Orphanet:70596 {source="MONDO:equivalentTo"} xref: SCTID:716660007 {source="MONDO:equivalentTo"} @@ -366389,6 +382717,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare id: MONDO:0019095 name: plague def: "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." [Orphanet:707] +subset: gard_rare {source="GARD:18702"} subset: ordo_disease {source="Orphanet:707"} synonym: "black death" RELATED [] synonym: "infection by Yersinia pestis" RELATED [] @@ -366397,6 +382726,7 @@ synonym: "pestilential fever" RELATED [] synonym: "plague" EXACT [] synonym: "Yersiniosis" BROAD [Orphanet:707] xref: DOID:3482 {source="MONDO:equivalentTo"} +xref: GARD:18702 {source="Orphanet:707"} xref: ICD10CM:A20 {source="MONDO:equivalentTo", source="DOID:3482"} xref: ICD10CM:A20.0 {source="Orphanet:707/btnt", source="Orphanet:707"} xref: ICD10CM:A20.1 {source="Orphanet:707/btnt", source="Orphanet:707"} @@ -366435,8 +382765,10 @@ id: MONDO:0019096 name: obsolete rare pulmonary hypertension def: "OBSOLETE. Rare pulmonary hypertension." [] subset: disease_grouping +subset: gard_rare {source="GARD:18904"} subset: ordo_group_of_disorders {source="Orphanet:71198"} synonym: "rare pulmonary hypertension" EXACT [MONDO:patterns/rare] +xref: GARD:18904 {source="Orphanet:71198", source="MONDO:obsoleteEquivalent"} xref: Orphanet:71198 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227571 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366448,6 +382780,7 @@ id: MONDO:0019097 name: obsolete hemorrhagic disorder due to a constitutional platelet anomaly def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." [https://orcid.org/0000-0001-5208-3432] subset: disease_grouping +subset: gard_rare {source="GARD:18905"} subset: ordo_group_of_disorders {source="Orphanet:71202"} synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] @@ -366455,6 +382788,7 @@ synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orp synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] +xref: GARD:18905 {source="MONDO:obsoleteEquivalent", source="Orphanet:71202"} xref: ICD10CM:D69.1 {source="Orphanet:71202", source="Orphanet:71202/attributed", source="Orphanet:71202/ntbt"} xref: Orphanet:71202 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227572 {source="MONDO:obsoleteEquivalent"} @@ -366468,7 +382802,9 @@ id: MONDO:0019098 name: autoimmune thrombocytopenia def: "An autoimmune form of thrombocytopenia." [MONDO:patterns/autoimmune] subset: disease_grouping +subset: gard_rare {source="GARD:18906"} subset: ordo_group_of_disorders {source="Orphanet:71203"} +xref: GARD:18906 {source="Orphanet:71203"} xref: ICD10CM:D69.3 {source="Orphanet:71203", source="Orphanet:71203/ntbt"} xref: MedDRA:10050245 {source="Orphanet:71203", source="Orphanet:71203/e"} xref: Orphanet:71203 {source="MONDO:equivalentTo"} @@ -366483,9 +382819,11 @@ id: MONDO:0019099 name: obsolete rare soft tissue tumor def: "OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:18907"} subset: ordo_group_of_disorders {source="Orphanet:71209"} synonym: "rare mesenchymal tumor" EXACT [Orphanet:71209] synonym: "rare soft tissue neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:18907 {source="MONDO:obsoleteEquivalent", source="Orphanet:71209"} xref: Orphanet:71209 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0037579 {source="Orphanet:71209"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366496,7 +382834,7 @@ replaced_by: MONDO:0006424 id: MONDO:0019100 name: neuromyelitis optica def: "A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." [Orphanet:71211] -subset: gard_rare {source="GARD:0006267"} +subset: gard_rare {source="GARD:6267"} subset: ordo_disease {source="Orphanet:71211"} synonym: "Devic disease" EXACT [Orphanet:71211] synonym: "Devic syndrome" RELATED [GARD:0006267] @@ -366506,6 +382844,7 @@ synonym: "Devic's syndrome" EXACT [DOID:8869] synonym: "NMO" RELATED ABBREVIATION [GARD:0006267] xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"} xref: EFO:0004256 {source="MONDO:equivalentTo", source="DOID:8869"} +xref: GARD:6267 {source="Orphanet:71211"} xref: ICD10CM:G36.0 {source="Orphanet:71211", source="DOID:8869", source="Orphanet:71211/e"} xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:i2s"} xref: MedDRA:10029322 {source="Orphanet:71211", source="Orphanet:71211/e"} @@ -366525,7 +382864,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6267/neuromy id: MONDO:0019101 name: retinal capillary malformation def: "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." [Orphanet:71213] +subset: gard_rare {source="GARD:18908"} subset: ordo_disease {source="Orphanet:71213"} +xref: GARD:18908 {source="Orphanet:71213"} xref: ICD10CM:D18.0 {source="Orphanet:71213", source="Orphanet:71213/attributed", source="Orphanet:71213/ntbt"} xref: Orphanet:71213 {source="MONDO:equivalentTo"} xref: UMLS:C0730304 {source="MONDO:relatedTo", source="Orphanet:71213", source="Orphanet:71213/e"} @@ -366537,7 +382878,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare id: MONDO:0019102 name: dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome def: "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:71267] +subset: gard_rare {source="GARD:18909"} subset: ordo_malformation_syndrome {source="Orphanet:71267"} +xref: GARD:18909 {source="Orphanet:71267"} xref: Orphanet:71267 {source="MONDO:equivalentTo"} xref: SCTID:721089006 {source="MONDO:equivalentTo"} xref: UMLS:CN205609 {source="MONDO:equivalentTo"} @@ -366561,9 +382904,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0019104 name: Sandifer syndrome def: "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." [Orphanet:71272] -subset: gard_rare {source="GARD:0009684"} +subset: gard_rare {source="GARD:9684"} subset: ordo_disease {source="Orphanet:71272"} synonym: "Sandifer's syndrome" RELATED [GARD:0009684] +xref: GARD:9684 {source="Orphanet:71272"} xref: MedDRA:10066142 {source="Orphanet:71272/e", source="Orphanet:71272"} xref: MESH:C537234 {source="Orphanet:71272/e", source="MONDO:equivalentTo", source="Orphanet:71272"} xref: NCIT:C113397 {source="MONDO:equivalentTo"} @@ -366579,11 +382923,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9684/sandife id: MONDO:0019105 name: renal nutcracker syndrome def: "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." [Orphanet:71273] +subset: gard_rare {source="GARD:11971"} subset: ordo_disease {source="Orphanet:71273"} synonym: "left renal vein entrapment syndrome" EXACT [Orphanet:71273] synonym: "nutcracker syndrome" RELATED [GARD:0011971] synonym: "RNS" EXACT ABBREVIATION [Orphanet:71273] xref: EFO:1001838 {source="MONDO:equivalentTo"} +xref: GARD:11971 {source="Orphanet:71273"} xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"} xref: Orphanet:71273 {source="MONDO:equivalentTo"} xref: SCTID:717267005 {source="MONDO:equivalentTo"} @@ -366601,7 +382947,7 @@ replaced_by: MONDO:0006183 id: MONDO:0019107 name: Rh deficiency syndrome def: "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome] -subset: gard_rare {source="GARD:0012916"} +subset: gard_rare {source="GARD:12916"} subset: ordo_disease {source="Orphanet:71275"} synonym: "anemia, hemolytic, Rh-null, regulator type" EXACT [OMIM:268150, OMIM:genemap2] synonym: "Rh deficiency syndrome" EXACT [OMIM:268150] @@ -366614,6 +382960,7 @@ synonym: "RH-null, regulator type" RELATED [MONDO:Lexical, OMIM:268150] synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268150] synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150] xref: DOID:0050641 {source="MONDO:equivalentTo"} +xref: GARD:12916 {source="Orphanet:71275"} xref: ICD10CM:D58.8 {source="Orphanet:71275/attributed", source="Orphanet:71275/ntbt", source="Orphanet:71275"} xref: MESH:C562717 {source="MONDO:equivalentTo"} xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275/ntbt", source="Orphanet:71275", source="MONDO:equivalentTo"} @@ -366631,8 +382978,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12916/rh-def id: MONDO:0019108 name: silent sinus syndrome def: "Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." [Orphanet:71276] +subset: gard_rare {source="GARD:18910"} subset: ordo_disease {source="Orphanet:71276"} synonym: "Imploding antrum syndrome" EXACT [Orphanet:71276] +xref: GARD:18910 {source="Orphanet:71276"} xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:71276 {source="MONDO:equivalentTo"} xref: SCTID:699802009 {source="MONDO:equivalentTo"} @@ -366644,12 +382993,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare id: MONDO:0019109 name: CANOMAD syndrome def: "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." [Orphanet:71279] -subset: gard_rare {source="GARD:0009778"} +subset: gard_rare {source="GARD:9778"} subset: ordo_disease {source="Orphanet:71279"} synonym: "chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome" RELATED [GARD:0009778] synonym: "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome" EXACT [Orphanet:71279] synonym: "chronic sensory ataxic neuropathy with anti-disialosyl antibodies" RELATED [GARD:0009778] synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [Orphanet:71279] +xref: GARD:9778 {source="Orphanet:71279"} xref: ICD10CM:G61.8 {source="Orphanet:71279", source="Orphanet:71279/ntbt"} xref: MESH:C537980 {source="MONDO:equivalentTo", source="Orphanet:71279", source="Orphanet:71279/e"} xref: Orphanet:71279 {source="MONDO:equivalentTo"} @@ -366662,7 +383012,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9778/canomad id: MONDO:0019110 name: obsolete rare central nervous system or retinal vascular disease subset: disease_grouping +subset: gard_rare {source="GARD:18911"} subset: ordo_group_of_disorders {source="Orphanet:71281"} +xref: GARD:18911 {source="MONDO:obsoleteEquivalent", source="Orphanet:71281"} xref: Orphanet:71281 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205621 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366673,6 +383025,7 @@ replaced_by: MONDO:0020676 id: MONDO:0019111 name: familial thrombocytosis def: "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." [https://github.com/monarch-initiative/mondo/issues/230, Orphanet:71493] +subset: gard_rare {source="GARD:16688"} subset: ordo_disease {source="Orphanet:71493"} synonym: "familial thrombocythemia" EXACT [Orphanet:71493] synonym: "hereditary thrombocythemia" EXACT [Orphanet:71493] @@ -366680,6 +383033,7 @@ synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary] synonym: "THCYT" EXACT ABBREVIATION [MONDO:cjm] synonym: "thrombocythemia" RELATED [OMIMPS:187950] +xref: GARD:16688 {source="Orphanet:71493"} xref: OMIMPS:187950 {source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="MONDO:equivalentTo"} xref: SCTID:720950009 {source="MONDO:equivalentTo"} @@ -366693,9 +383047,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:187950"} ! inheri id: MONDO:0019112 name: cancer-associated retinopathy def: "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." [Orphanet:71505] +subset: gard_rare {source="GARD:18912"} subset: ordo_disease {source="Orphanet:71505"} synonym: "CAR syndrome" EXACT [Orphanet:71505] synonym: "paraneoplastic retinopathy" EXACT [Orphanet:71505] +xref: GARD:18912 {source="Orphanet:71505"} xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D059545 {source="MONDO:equivalentTo"} xref: Orphanet:71505 {source="MONDO:equivalentTo"} @@ -366711,7 +383067,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0019113 name: benign paroxysmal torticollis of infancy def: "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." [Orphanet:71518] +subset: gard_rare {source="GARD:18913"} subset: ordo_disease {source="Orphanet:71518"} +xref: GARD:18913 {source="Orphanet:71518"} xref: ICD10CM:G24.3 {source="Orphanet:71518/attributed", source="Orphanet:71518/ntbt", source="Orphanet:71518"} xref: Orphanet:71518 {source="MONDO:equivalentTo"} xref: SCTID:719521002 {source="MONDO:equivalentTo"} @@ -366722,8 +383080,10 @@ is_a: MONDO:0016058 {source="Orphanet:71518"} ! paroxysmal dystonia id: MONDO:0019114 name: psychogenic movement disorders def: "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." [Orphanet:71519] +subset: gard_rare {source="GARD:18914"} subset: ordo_clinical_syndrome {source="Orphanet:71519"} synonym: "psychogenic dystonia" EXACT [Orphanet:71519] +xref: GARD:18914 {source="Orphanet:71519"} xref: ICD10CM:F44.4 {source="Orphanet:71519/ntbt", source="Orphanet:71519"} xref: MedDRA:10072376 {source="Orphanet:71519/e", source="Orphanet:71519"} xref: Orphanet:71519 {source="MONDO:equivalentTo"} @@ -366735,8 +383095,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015143"} ! rare id: MONDO:0019115 name: obesity due to melanocortin 4 receptor deficiency def: "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." [Orphanet:71529] +subset: gard_rare {source="GARD:16690"} subset: ordo_malformation_syndrome {source="Orphanet:71529"} synonym: "MC4R deficiency" EXACT [Orphanet:71529] +xref: GARD:16690 {source="Orphanet:71529"} xref: ICD10CM:E66.8 {source="Orphanet:71529/attributed", source="Orphanet:71529/ntbt", source="Orphanet:71529"} xref: NCIT:C120394 {source="MONDO:equivalentTo"} xref: Orphanet:71529 {source="MONDO:equivalentTo"} @@ -366763,10 +383125,12 @@ id: MONDO:0019117 name: obsolete genetic nervous system disorder def: "OBSOLETE. An instance of nervous system disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: disease_grouping +subset: gard_rare {source="GARD:18915"} subset: ordo_group_of_disorders {source="Orphanet:71859"} synonym: "genetic nervous system disorder" EXACT [MONDO:patterns/genetic] synonym: "genetic neurological disorder" EXACT [MONDO:cjm] synonym: "rare genetic neurological disorder" EXACT [Orphanet:71859] +xref: GARD:18915 {source="MONDO:obsoleteEquivalent", source="Orphanet:71859"} xref: Orphanet:71859 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205639 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} @@ -366779,6 +383143,7 @@ name: inherited retinal dystrophy def: "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same subset: disease_grouping +subset: gard_rare {source="GARD:18916"} subset: ordo_group_of_disorders {source="Orphanet:71862"} synonym: "familial retinal dystrophy" EXACT [] synonym: "fundus dystrophy" BROAD [MONDO:0004590] @@ -366789,6 +383154,7 @@ synonym: "inherited retinal dystrophy" EXACT CLINGEN_PREFERRED [] synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625] xref: DOID:8500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:8501 {source="MONDO:equivalentTo"} +xref: GARD:18916 {source="Orphanet:71862"} xref: HP:0000556 {source="MONDO:otherHierarchy"} xref: ICD10CM:H35.5 {source="DOID:8500", source="MONDO:equivalentTo"} xref: ICD10CM:H35.50 {source="DOID:8500"} @@ -366820,10 +383186,12 @@ id: MONDO:0019119 name: muscular channelopathy def: "A channelopathy that involves the muscle tissue." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:18917"} subset: ordo_group_of_disorders {source="Orphanet:71864"} synonym: "channelopathy of muscle tissue" EXACT [MONDO:design_pattern] synonym: "muscle tissue channelopathy" EXACT [MONDO:patterns/location] xref: EFO:1001899 {source="MONDO:equivalentTo"} +xref: GARD:18917 {source="Orphanet:71864"} xref: Orphanet:71864 {source="MONDO:equivalentTo"} xref: Orphanet:98737 {source="MONDO:mondoIsBroaderThanSource"} is_a: MONDO:0019056 {source="Orphanet:71864"} ! neuromuscular disease @@ -366832,7 +383200,9 @@ is_a: MONDO:0019056 {source="Orphanet:71864"} ! neuromuscular disease id: MONDO:0019120 name: pili bifurcati def: "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." [Orphanet:720] +subset: gard_rare {source="GARD:18703"} subset: ordo_disease {source="Orphanet:720"} +xref: GARD:18703 {source="Orphanet:720"} xref: ICD10CM:L67.8 {source="Orphanet:720", source="Orphanet:720/attributed", source="Orphanet:720/ntbt"} xref: Orphanet:720 {source="MONDO:equivalentTo"} xref: SCTID:717360009 {source="MONDO:equivalentTo"} @@ -366842,7 +383212,7 @@ is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anom id: MONDO:0019121 name: pneumocystosis def: "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." [https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis] -subset: gard_rare {source="GARD:0004386"} +subset: gard_rare {source="GARD:4386"} subset: ordo_disease {source="Orphanet:723"} synonym: "PCP" EXACT ABBREVIATION [NCIT:C3334] synonym: "PJP" EXACT ABBREVIATION [NCIT:C3334] @@ -366855,6 +383225,7 @@ synonym: "pneumocystosis pneumonia" EXACT [DOID:11339] synonym: "pulmonary pneumocystosis" EXACT [DOID:11339] xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"} xref: EFO:0007448 {source="MONDO:equivalentTo"} +xref: GARD:4386 {source="Orphanet:723"} xref: ICD10CM:B59 {source="DOID:11339", source="MONDO:equivalentTo"} xref: ICD10EXP:B59+ {source="Orphanet:723", source="Orphanet:723/e"} xref: ICD10EXP:J17.3* {source="Orphanet:723/ntbt", source="Orphanet:723"} @@ -366879,7 +383250,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4386/pneumoc id: MONDO:0019122 name: idiopathic acute eosinophilic pneumonia def: "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." [Orphanet:724] -subset: gard_rare +subset: gard_rare {source="GARD:519"} subset: ordo_disease {source="Orphanet:724"} synonym: "IAEP" EXACT ABBREVIATION [Orphanet:724] synonym: "Loeffler syndrome" EXACT [GARD:0000107, MONDO:0004807, Orphanet:724] @@ -366889,6 +383260,7 @@ synonym: "Loffler's syndrome" EXACT [DOID:9503] synonym: "Löffler syndrome" EXACT [NCIT:C35301] synonym: "pulmonary infiltrates with eosinophilia" RELATED [GARD:0000107] xref: DOID:9503 {source="MONDO:equivalentTo"} +xref: GARD:519 {source="Orphanet:724"} xref: ICD10CM:J82 {source="Orphanet:724/ntbt", source="DOID:9503", source="Orphanet:724"} xref: MESH:D011657 {source="DOID:9503"} xref: NCIT:C35301 {source="DOID:9503", source="MONDO:equivalentTo"} @@ -366908,11 +383280,13 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019123 name: continuous spikes and waves during sleep def: "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." [Orphanet:725] +subset: gard_rare {source="GARD:1513"} subset: ordo_disease {source="Orphanet:725"} synonym: "continuous spikes and waves during slow-wave sleep" EXACT [Orphanet:725] synonym: "CSWS" EXACT ABBREVIATION [Orphanet:725] synonym: "CSWSS syndrome" EXACT [Orphanet:725] synonym: "epileptic encephalopathy with continuous spike-and-wave during slow sleep" EXACT [Orphanet:725] +xref: GARD:1513 {source="Orphanet:725"} xref: Orphanet:725 {source="MONDO:equivalentTo"} xref: UMLS:C3806403 {source="MONDO:equivalentTo"} xref: UMLS:CN181337 {source="MONDO:equivalentTo"} @@ -366924,12 +383298,13 @@ property_value: confidence "1.6540227828472593" xsd:double id: MONDO:0019124 name: microscopic polyangiitis def: "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." [Orphanet:727] -subset: gard_rare {source="GARD:0003652"} +subset: gard_rare {source="GARD:3652"} subset: ordo_disease {source="Orphanet:727"} synonym: "Micropolyangiitis" EXACT [Orphanet:727] synonym: "microscopic polyarteritis" EXACT [Orphanet:727] synonym: "MPA" EXACT ABBREVIATION [Orphanet:727] xref: EFO:1000784 {source="MONDO:equivalentTo"} +xref: GARD:3652 {source="Orphanet:727"} xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} xref: MedDRA:10063344 {source="EFO:1000784", source="Orphanet:727", source="Orphanet:727/e"} xref: MESH:D055953 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} @@ -366949,13 +383324,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3652/microsc id: MONDO:0019125 name: relapsing polychondritis def: "A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." [https://orcid.org/0000-0001-5208-3432, Orphanet:728] -subset: gard_rare {source="GARD:0007417"} +subset: gard_rare {source="GARD:7417"} subset: ordo_disease {source="Orphanet:728"} synonym: "chondromalacia, systemic" EXACT [DOID:2556] synonym: "chronic atrophic polychondritis" RELATED [GARD:0007417] synonym: "recurrent polychondritis" RELATED [GARD:0007417] xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"} xref: EFO:1001148 {source="MONDO:equivalentTo"} +xref: GARD:7417 {source="Orphanet:728"} xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038304 {source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} @@ -366974,7 +383350,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7417/relapsi id: MONDO:0019126 name: obsolete intractable diarrhea of infancy def: "OBSOLETE. Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." [Orphanet:73014] +subset: gard_rare {source="GARD:18918"} synonym: "IDI" EXACT ABBREVIATION [Orphanet:73014] +xref: GARD:18918 {source="Orphanet:73014", source="MONDO:obsoleteEquivalent"} xref: Orphanet:73014 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -366985,11 +383363,13 @@ is_obsolete: true id: MONDO:0019127 name: polymyositis def: "A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." [https://orcid.org/0000-0001-5208-3432, Orphanet:732] +subset: gard_rare {source="GARD:7425"} subset: ordo_disease {source="Orphanet:732"} synonym: "PM" EXACT ABBREVIATION [Orphanet:732] synonym: "polymyositis" EXACT [MONDO:0005234] xref: DOID:0080745 {source="MONDO:equivalentTo"} xref: EFO:0003063 {source="MONDO:equivalentTo"} +xref: GARD:7425 {source="Orphanet:732"} xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e"} xref: ICD9:710.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003063"} xref: MedDRA:10036102 {source="Orphanet:732", source="Orphanet:732/e"} @@ -367007,12 +383387,14 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:732"} ! obsole id: MONDO:0019128 name: mullerian aplasia subset: disease_grouping +subset: gard_rare {source="GARD:7100"} subset: ordo_group_of_disorders {source="Orphanet:73217"} synonym: "aplasia of the Mullerian ducts" EXACT [Orphanet:73217] synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217] synonym: "Mullerian duct failure" EXACT [Orphanet:73217] synonym: "Müllerian aplasia" RELATED [Orphanet:73217] synonym: "Müllerian duct failure" EXACT [Orphanet:73217] +xref: GARD:7100 {source="Orphanet:73217"} xref: MESH:C537371 {source="MONDO:equivalentTo", source="Orphanet:73217", source="Orphanet:73217/e"} xref: Orphanet:73217 {source="MONDO:equivalentTo"} xref: SCTID:253828000 {source="MONDO:equivalentTo"} @@ -367025,7 +383407,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source=" id: MONDO:0019129 name: global developmental delay-osteopenia-ectodermal defect syndrome def: "This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies." [Orphanet:73223] +subset: gard_rare {source="GARD:18919"} subset: ordo_malformation_syndrome {source="Orphanet:73223"} +xref: GARD:18919 {source="Orphanet:73223"} xref: ICD10CM:Q87.8 {source="Orphanet:73223", source="Orphanet:73223/attributed", source="Orphanet:73223/ntbt"} xref: Orphanet:73223 {source="MONDO:equivalentTo"} xref: SCTID:717813005 {source="MONDO:equivalentTo"} @@ -367039,7 +383423,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019130 name: tubular renal disease-cardiomyopathy syndrome def: "A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." [Orphanet:73224] +subset: gard_rare {source="GARD:18920"} subset: ordo_disease {source="Orphanet:73224"} +xref: GARD:18920 {source="Orphanet:73224"} xref: ICD10CM:N25.8 {source="Orphanet:73224/attributed", source="Orphanet:73224/ntbt", source="Orphanet:73224"} xref: Orphanet:73224 {source="MONDO:equivalentTo"} xref: UMLS:CN205654 {source="MONDO:equivalentTo"} @@ -367052,7 +383438,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019131 name: ossification anomalies-psychomotor developmental delay syndrome def: "Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification." [Orphanet:73230] +subset: gard_rare {source="GARD:18921"} subset: ordo_disease {source="Orphanet:73230"} +xref: GARD:18921 {source="Orphanet:73230"} xref: ICD10CM:Q79.8 {source="Orphanet:73230/attributed", source="Orphanet:73230/ntbt", source="Orphanet:73230"} xref: Orphanet:73230 {source="MONDO:equivalentTo"} xref: UMLS:CN227577 {source="MONDO:equivalentTo"} @@ -367066,7 +383454,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019132 name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome +subset: gard_rare {source="GARD:18922"} subset: ordo_malformation_syndrome {source="Orphanet:73245"} +xref: GARD:18922 {source="Orphanet:73245"} xref: ICD10CM:G12.8 {source="Orphanet:73245", source="Orphanet:73245/attributed", source="Orphanet:73245/ntbt"} xref: Orphanet:73245 {source="MONDO:equivalentTo"} xref: UMLS:CN205656 {source="MONDO:equivalentTo"} @@ -367077,7 +383467,9 @@ relationship: disease_has_major_feature MONDO:0020022 ! central nervous system m id: MONDO:0019133 name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome def: "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." [Orphanet:73246] +subset: gard_rare {source="GARD:18923"} subset: ordo_malformation_syndrome {source="Orphanet:73246"} +xref: GARD:18923 {source="Orphanet:73246"} xref: ICD10CM:Q87.8 {source="Orphanet:73246/attributed", source="Orphanet:73246/ntbt", source="Orphanet:73246"} xref: Orphanet:73246 {source="MONDO:equivalentTo"} xref: UMLS:CN205657 {source="MONDO:equivalentTo"} @@ -367090,13 +383482,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019134 name: central neurocytoma def: "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." [Orphanet:73256] -subset: gard_rare {source="GARD:0010641"} +subset: gard_rare {source="GARD:10641"} subset: ordo_disease {source="Orphanet:73256"} synonym: "central neurocytoma (WHO grade II)" EXACT [NCIT:C3791] synonym: "CNC" RELATED ABBREVIATION [ONCOTREE:CNC] synonym: "Neurolipocytoma" EXACT [DOID:14174] xref: DOID:14174 {source="MONDO:equivalentTo"} xref: EFO:1000856 {source="MONDO:equivalentTo"} +xref: GARD:10641 {source="Orphanet:73256"} xref: ICDO:9506/1 {source="NCIT:C3791"} xref: MESH:D018306 {source="MONDO:equivalentTo", source="DOID:14174"} xref: NCIT:C3791 {source="MONDO:equivalentTo", source="DOID:14174", source="MONDO:exact-label-match"} @@ -367121,12 +383514,13 @@ replaced_by: MONDO:0005894 id: MONDO:0019136 name: Zygomycosis def: "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." [NCIT:C77212] -subset: gard_rare {source="GARD:0010224"} +subset: gard_rare {source="GARD:10224"} subset: ordo_disease {source="Orphanet:73263"} synonym: "mucormycosis" EXACT [Orphanet:73263] synonym: "Zygomycota infectious disease" EXACT [] xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MONDO:obsolete"} xref: EFO:0007380 {source="MONDO:equivalentTo"} +xref: GARD:10224 {source="Orphanet:73263"} xref: ICD10CM:B46 {source="MONDO:equivalentTo"} xref: ICD10CM:B46.0 {source="Orphanet:73263/btnt", source="Orphanet:73263"} xref: ICD10CM:B46.1 {source="Orphanet:73263/btnt", source="Orphanet:73263"} @@ -367159,12 +383553,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10224/zygomy id: MONDO:0019137 name: non-24-hour sleep-wake syndrome def: "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." [Orphanet:73267] +subset: gard_rare {source="GARD:10949"} subset: ordo_disease {source="Orphanet:73267"} synonym: "circadian rhythm sleep disorder, free running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] synonym: "circadian rhythm sleep disorder, free-running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] synonym: "hypernychthemeral syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24, Orphanet:73267] synonym: "non 24 hour sleep wake disorder" RELATED [GARD:0010949] synonym: "non-24" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] +xref: GARD:10949 {source="Orphanet:73267"} xref: ICD10CM:G47.2 {source="Orphanet:73267", source="Orphanet:73267/ntbt"} xref: ICD10CM:G47.24 {source="MONDO:equivalentTo"} xref: Orphanet:73267 {source="MONDO:equivalentTo"} @@ -367178,6 +383574,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare [Term] id: MONDO:0019138 name: obsolete bleeding diathesis due to a collagen receptor defect +subset: gard_rare {source="GARD:16691"} +xref: GARD:16691 {source="MONDO:obsoleteEquivalent", source="Orphanet:73271"} xref: ICD10CM:D69.8 {source="Orphanet:73271/attributed", source="Orphanet:73271/ntbt", source="Orphanet:73271"} xref: Orphanet:73271 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -367207,11 +383605,13 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0019140 name: acute ackee fruit intoxication def: "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." [Orphanet:73423] +subset: gard_rare {source="GARD:9299"} subset: ordo_disease {source="Orphanet:73423"} synonym: "ackee poisoning" RELATED [GARD:0009299] synonym: "acute intoxication by Blighia sapida" EXACT [Orphanet:73423] synonym: "Jamaican vomiting sickness" EXACT [Orphanet:73423] synonym: "Jamaican vomiting syndrome" EXACT [Orphanet:73423] +xref: GARD:9299 {source="Orphanet:73423"} xref: ICD10CM:T62.2 {source="Orphanet:73423/ntbt", source="Orphanet:73423"} xref: ICD9:988.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537562 {source="MONDO:equivalentTo"} @@ -367226,7 +383626,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019141 name: porokeratosis of Mibelli def: "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." [Orphanet:735] +subset: gard_rare {source="GARD:4438"} subset: ordo_disease {source="Orphanet:735"} +xref: GARD:4438 {source="Orphanet:735"} xref: ICD10CM:Q82.8 {source="Orphanet:735/attributed", source="Orphanet:735/ntbt", source="Orphanet:735"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:735 {source="MONDO:equivalentTo"} @@ -367242,7 +383644,7 @@ name: inherited porphyria def: "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." [Orphanet:738] comment: Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic subset: disease_grouping -subset: gard_rare {source="GARD:0010353"} +subset: gard_rare {source="GARD:10353"} subset: ordo_group_of_disorders {source="Orphanet:738"} synonym: "disorder of porphyrin and hem metabolism" EXACT [DOID:13268] synonym: "disorder of porphyrin and heme metabolism" BROAD [DOID:13268] @@ -367252,6 +383654,7 @@ synonym: "hereditary porphyria" EXACT [MONDO:patterns/hereditary] synonym: "porphyria" BROAD [DOID:13268] synonym: "Porphyrinopathy" RELATED [DOID:13268] xref: DOID:13268 {source="MONDO:equivalentTo"} +xref: GARD:10353 {source="Orphanet:738"} xref: ICD10CM:E80.0 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} xref: ICD10CM:E80.1 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} xref: ICD10CM:E80.2 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} @@ -367286,9 +383689,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10353/porphy id: MONDO:0019143 name: angiostrongyliasis def: "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." [Orphanet:74] -subset: gard_rare {source="GARD:0000683"} +subset: gard_rare {source="GARD:683"} subset: ordo_disease {source="Orphanet:74"} xref: DOID:0050256 {source="MONDO:equivalentTo"} +xref: GARD:683 {source="Orphanet:74"} xref: ICD10CM:B81.3 {source="Orphanet:74/btnt", source="Orphanet:74"} xref: ICD10CM:B83.2 {source="Orphanet:74/btnt", source="Orphanet:74"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -367307,11 +383711,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/683/angiostr id: MONDO:0019144 name: hereditary thrombophilia due to congenital protein S deficiency def: "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." [Orphanet:743] +subset: gard_rare {source="GARD:16543"} subset: ordo_disease {source="Orphanet:743"} synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743] synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT CLINGEN_PREFERRED [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743] xref: DOID:0111905 {source="MONDO:equivalentTo"} +xref: GARD:16543 {source="Orphanet:743"} xref: ICD10CM:D68.5 {source="Orphanet:743/attributed", source="Orphanet:743/ntbt", source="Orphanet:743"} xref: Orphanet:743 {source="MONDO:equivalentTo"} is_a: MONDO:0002304 {source="MONDO:cjm"} ! protein S deficiency @@ -367321,6 +383727,7 @@ is_a: MONDO:0100240 {source="MONDO:0016320-obsoleted", source="https://orcid.org id: MONDO:0019145 name: hereditary thrombophilia due to congenital protein C deficiency def: "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." [Orphanet:745] +subset: gard_rare {source="GARD:16544"} subset: ordo_disease {source="Orphanet:745"} synonym: "autosomal recessive thrombophilia due to congenital protein C deficiency" EXACT [Orphanet:745] synonym: "autosomal recessive thrombophilia due to PC deficiency" EXACT [Orphanet:745] @@ -367331,6 +383738,7 @@ synonym: "protein C deficiency" EXACT [MONDO:0002767] synonym: "Protein C deficiency disease" EXACT [NCIT:C99025] synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745] xref: DOID:3756 {source="MONDO:equivalentTo"} +xref: GARD:16544 {source="Orphanet:745"} xref: ICD10CM:D68.2 {source="Orphanet:745/attributed", source="Orphanet:745/ntbt", source="Orphanet:745"} xref: ICD10CM:D68.59 {source="DOID:3756"} xref: MESH:C535424 {source="MONDO:equivalentTo"} @@ -367349,6 +383757,7 @@ id: MONDO:0019146 name: inherited susceptibility to mycobacterial diseases def: "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." [Orphanet:748] subset: disease_grouping +subset: gard_rare {source="GARD:12977"} subset: ordo_group_of_disorders {source="Orphanet:748"} subset: predisposition synonym: "idiopathic infection caused by BCG or atypical mycobacteria" EXACT [Orphanet:748] @@ -367357,6 +383766,7 @@ synonym: "Mendelian susceptibility to mycobacterial infections" EXACT [Orphanet: synonym: "MSMD" EXACT ABBREVIATION [Orphanet:748] synonym: "Mycobacterium caused genetic susceptibility to infections due to particular pathogens" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium genetic susceptibility to infections due to particular pathogens" EXACT [] +xref: GARD:12977 {source="Orphanet:748"} xref: ICD10CM:D84.8 {source="Orphanet:748", source="Orphanet:748/attributed", source="Orphanet:748/ntbt"} xref: Orphanet:748 {source="MONDO:equivalentTo"} xref: UMLS:C3266863 {source="MONDO:equivalentTo", source="Orphanet:748"} @@ -367370,6 +383780,7 @@ id: MONDO:0019147 name: myiasis def: "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." [NCIT:C128400] subset: disease_grouping +subset: gard_rare {source="GARD:18924"} subset: ordo_group_of_disorders {source="Orphanet:75110"} synonym: "infestation by fly larvae" EXACT [DOID:11080] synonym: "infestation by maggots" EXACT [DOID:11080] @@ -367377,6 +383788,7 @@ synonym: "maggot infestation" EXACT [DOID:11080] synonym: "myiasis, unspecified" EXACT [DOID:11080] xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"} xref: EFO:0007389 {source="MONDO:equivalentTo"} +xref: GARD:18924 {source="Orphanet:75110"} xref: ICD10CM:B87 {source="DOID:11080"} xref: ICD10CM:B87.0 {source="Orphanet:75110/btnt", source="Orphanet:75110"} xref: ICD10CM:B87.1 {source="Orphanet:75110/btnt", source="Orphanet:75110"} @@ -367405,6 +383817,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare id: MONDO:0019148 name: Wolman disease def: "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." [Orphanet:75233] +subset: gard_rare {source="GARD:7899"} subset: ordo_clinical_subtype {source="Orphanet:75233"} synonym: "acid esterase deficiency" EXACT [DOID:14497] synonym: "acid lipase deficiency" EXACT [DOID:14497] @@ -367421,6 +383834,7 @@ synonym: "Wolman's disease" EXACT [DOID:14497] synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497] synonym: "xanthomatosis, familial" EXACT [DOID:14497] xref: DOID:14497 {source="MONDO:equivalentTo"} +xref: GARD:7899 {source="Orphanet:75233"} xref: ICD10CM:E75.5 {source="Orphanet:75233", source="Orphanet:75233/ntbt", source="DOID:14497", source="Orphanet:75233/inclusion"} xref: MedDRA:10053687 {source="Orphanet:75233", source="Orphanet:75233/e"} xref: MESH:C564736 {source="MONDO:equivalentTo"} @@ -367448,6 +383862,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019149 name: cholesteryl ester storage disease def: "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." [Orphanet:75234] +subset: gard_rare {source="GARD:12097"} subset: ordo_clinical_subtype {source="Orphanet:75234"} synonym: "CESD" RELATED ABBREVIATION [GARD:0012099] synonym: "cholesterol ester hydrolase deficiency, partial" EXACT [OMIM:278000] @@ -367458,6 +383873,7 @@ synonym: "LIPA deficiency, partial" EXACT [OMIM:278000] synonym: "lysosomal acid lipase deficiency, partial" EXACT CLINGEN_PREFERRED [OMIM:278000] synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217] xref: DOID:14502 {source="MONDO:equivalentTo"} +xref: GARD:12097 {source="Orphanet:275761"} xref: ICD10CM:E75.5 {source="Orphanet:75234", source="Orphanet:75234/attributed", source="Orphanet:75234/ntbt"} xref: MESH:D015217 {source="DOID:14502"} xref: OMIM:278000 {source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217", source="Orphanet:275761/e"} @@ -367476,7 +383892,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019150 name: obsolete familial isolated restrictive cardiomyopathy def: "OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy] +subset: gard_rare {source="GARD:16692"} synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249] +xref: GARD:16692 {source="MONDO:obsoleteEquivalent", source="Orphanet:75249"} xref: ICD10CM:I42.5 {source="Orphanet:75249", source="Orphanet:75249/e", source="Orphanet:75249/specific"} xref: Orphanet:75249 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205687 {source="MONDO:obsoleteEquivalent"} @@ -367492,8 +383910,10 @@ is_obsolete: true id: MONDO:0019151 name: oligocone trichromacy def: "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision." [Orphanet:75378] +subset: gard_rare {source="GARD:18925"} subset: ordo_disease {source="Orphanet:75378"} synonym: "Oligocone syndrome" EXACT [Orphanet:75378] +xref: GARD:18925 {source="Orphanet:75378"} xref: Orphanet:75378 {source="MONDO:equivalentTo"} xref: SCTID:722066001 {source="MONDO:equivalentTo"} xref: UMLS:C4302876 {source="MONDO:equivalentTo"} @@ -367504,12 +383924,13 @@ is_a: MONDO:0019118 {source="Orphanet:75378"} ! inherited retinal dystrophy id: MONDO:0019152 name: Oguchi disease def: "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." [Orphanet:75382] -subset: gard_rare {source="GARD:0010118"} +subset: gard_rare {source="GARD:10118"} subset: ordo_malformation_syndrome {source="Orphanet:75382"} synonym: "congenital stationary night blindness, Oguchi type" EXACT [Orphanet:75382] synonym: "Oguchi disease" EXACT CLINGEN_PREFERRED [] synonym: "Oguchi syndrome" EXACT [Orphanet:75382] synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118] +xref: GARD:10118 {source="Orphanet:75382"} xref: ICD10CM:H53.6 {source="Orphanet:75382", source="Orphanet:75382/ntbt", source="Orphanet:75382/index"} xref: MESH:C537743 {source="Orphanet:75382/e", source="MONDO:equivalentTo", source="Orphanet:75382"} xref: Orphanet:75382 {source="MONDO:equivalentTo"} @@ -367523,8 +383944,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10118/oguchi id: MONDO:0019153 name: brain malformation-congenital heart disease-postaxial polydactyly syndrome def: "Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." [Orphanet:75389] +subset: gard_rare {source="GARD:18926"} subset: ordo_malformation_syndrome {source="Orphanet:75389"} synonym: "Goossens-Devriendt syndrome" EXACT [Orphanet:75389] +xref: GARD:18926 {source="Orphanet:75389"} xref: ICD10CM:Q87.8 {source="Orphanet:75389/attributed", source="Orphanet:75389/ntbt", source="Orphanet:75389"} xref: Orphanet:75389 {source="MONDO:equivalentTo"} xref: SCTID:717943008 {source="MONDO:equivalentTo"} @@ -367542,7 +383965,7 @@ id: MONDO:0019154 name: androgen insensitivity syndrome def: "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." [Orphanet:754] subset: disease_grouping -subset: gard_rare {source="GARD:0005803"} +subset: gard_rare {source="GARD:5803"} subset: ordo_group_of_disorders {source="Orphanet:754"} synonym: "AIS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300068, Orphanet:754] synonym: "androgen insensitivity syndrome" EXACT [MONDO:Lexical, OMIM:300068] @@ -367561,6 +383984,7 @@ synonym: "testicular feminization" EXACT [DOID:4674] synonym: "testicular feminization syndrome" EXACT [DOID:4674, MTH:NOCODE, NCIT:C27226, OMIM:300068, Orphanet:754] synonym: "testicular feminization syndrome (formerly)" RELATED [GARD:0005803] xref: DOID:4674 {source="MONDO:equivalentTo"} +xref: GARD:5803 {source="Orphanet:754"} xref: ICD10CM:E34.5 {source="DOID:4674", source="Orphanet:754", source="Orphanet:99429", source="Orphanet:754/e", source="Orphanet:754/specific"} xref: ICD10CM:E34.50 {source="DOID:4674"} xref: ICD10CM:E34.51 {source="DOID:4674"} @@ -367597,7 +384021,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5803/androge id: MONDO:0019155 name: Leydig cell hypoplasia def: "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." [GARD:0003244] -subset: gard_rare +subset: gard_rare {source="GARD:3244"} subset: ordo_disease {source="Orphanet:755"} synonym: "46,XY disorder of sex development due to LH defects" RELATED [GARD:0003244] synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [Orphanet:755] @@ -367610,6 +384034,7 @@ synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755] synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755] xref: DOID:0112259 {source="MONDO:equivalentTo"} +xref: GARD:3244 {source="Orphanet:755"} xref: ICD10CM:Q56.1 {source="Orphanet:755", source="Orphanet:755/attributed", source="Orphanet:755/ntbt"} xref: MedDRA:10024406 {source="Orphanet:755", source="Orphanet:755/e"} xref: MESH:C562567 {source="MONDO:equivalentTo"} @@ -367622,9 +384047,11 @@ relationship: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted id: MONDO:0019156 name: angioosteohypotrophic syndrome def: "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." [Orphanet:75508] +subset: gard_rare {source="GARD:18927"} subset: ordo_malformation_syndrome {source="Orphanet:75508"} synonym: "Phlebectatic osteohypoplastic angiodysplasia" EXACT [Orphanet:75508] synonym: "Servelle-Martorell syndrome" EXACT [Orphanet:75508] +xref: GARD:18927 {source="Orphanet:75508"} xref: Orphanet:75508 {source="MONDO:equivalentTo"} xref: SCTID:765750001 {source="MONDO:equivalentTo"} xref: UMLS:CN205707 {source="MONDO:equivalentTo"} @@ -367636,6 +384063,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019157 name: myelodysplastic syndrome with ring sideroblasts def: "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564] +subset: gard_rare {source="GARD:8249"} subset: ordo_disease {source="Orphanet:75564"} synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "acquired idiopathic sideroblastic anemia" EXACT [Orphanet:75564] @@ -367655,6 +384083,7 @@ synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036] synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036] synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564] xref: EFO:0003812 {source="MONDO:equivalentTo"} +xref: GARD:8249 {source="Orphanet:75564"} xref: ICD10CM:D64.3 {source="Orphanet:75564", source="Orphanet:75564/ntbt"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9982/3 {source="NCIT:C4036"} @@ -367671,9 +384100,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019158 name: tropical endomyocardial fibrosis def: "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." [Orphanet:75565] +subset: gard_rare {source="GARD:18928"} subset: ordo_disease {source="Orphanet:75565"} synonym: "Davies disease" EXACT [Orphanet:75565] synonym: "TEMF" EXACT ABBREVIATION [Orphanet:75565] +xref: GARD:18928 {source="Orphanet:75565"} xref: ICD10CM:I42.3 {source="Orphanet:75565/ntbt", source="Orphanet:75565"} xref: Orphanet:75565 {source="MONDO:equivalentTo"} xref: SCTID:715626008 {source="MONDO:equivalentTo"} @@ -367685,10 +384116,12 @@ is_a: MONDO:0016345 {source="Orphanet:75565"} ! non-familial restrictive cardiom id: MONDO:0019159 name: Loeffler endocarditis def: "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." [Orphanet:75566] +subset: gard_rare {source="GARD:18929"} subset: ordo_disease {source="Orphanet:75566"} synonym: "eosinophilic endocarditis" EXACT [Orphanet:75566] synonym: "eosinophilic endomyocardial disease" EXACT [DOID:396, NCIT:C27044] xref: DOID:396 {source="MONDO:equivalentTo"} +xref: GARD:18929 {source="Orphanet:75566"} xref: ICD10CM:I42.3 {source="Orphanet:75566", source="Orphanet:75566/ntbt", source="DOID:396"} xref: MedDRA:10052841 {source="Orphanet:75566", source="Orphanet:75566/e"} xref: NCIT:C27044 {source="MONDO:equivalentTo", source="DOID:396"} @@ -367703,8 +384136,10 @@ is_a: MONDO:0016345 {source="Orphanet:75566"} ! non-familial restrictive cardiom id: MONDO:0019160 name: primary progressive freezing gait def: "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." [Orphanet:75567] +subset: gard_rare {source="GARD:18930"} subset: ordo_clinical_syndrome {source="Orphanet:75567"} synonym: "PPFG" EXACT ABBREVIATION [Orphanet:75567] +xref: GARD:18930 {source="Orphanet:75567"} xref: Orphanet:75567 {source="MONDO:equivalentTo"} xref: SCTID:715627004 {source="MONDO:equivalentTo"} xref: UMLS:C4275078 {source="MONDO:equivalentTo"} @@ -367716,10 +384151,12 @@ is_a: MONDO:0021095 ! parkinsonian disorder id: MONDO:0019161 name: pseudohypoaldosteronism type 1 def: "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." [Orphanet:756] +subset: gard_rare {source="GARD:16545"} subset: ordo_disease {source="Orphanet:756"} synonym: "PHA type 1" EXACT [Orphanet:756] synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251] synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251] +xref: GARD:16545 {source="Orphanet:756"} xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011546 {source="Orphanet:756", source="Orphanet:756/e"} @@ -367735,6 +384172,7 @@ is_a: MONDO:0018638 {source="NCIT:C123251", source="Orphanet:756"} ! pseudohypoa id: MONDO:0019162 name: pseudohypoaldosteronism type 2 def: "A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." [https://orcid.org/0000-0001-5208-3432, Orphanet:757] +subset: gard_rare {source="GARD:4553"} subset: ordo_disease {source="Orphanet:757"} synonym: "chloride shunt syndrome" EXACT [Orphanet:757] synonym: "familial hyperkalemic hypertension" EXACT [Orphanet:757] @@ -367749,6 +384187,7 @@ synonym: "PHAII" EXACT ABBREVIATION [Orphanet:757] synonym: "pseudohypoaldosteronism, type 2" EXACT [] synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260] synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757] +xref: GARD:4553 {source="Orphanet:757"} xref: ICD10CM:I15.1 {source="Orphanet:757/attributed", source="Orphanet:757/ntbt", source="Orphanet:757"} xref: ICD9:588.89 xref: NCIT:C123252 {source="MONDO:equivalentTo"} @@ -367769,7 +384208,9 @@ replaced_by: MONDO:0009925 id: MONDO:0019164 name: 6q terminal deletion syndrome def: "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." [Orphanet:75857] +subset: gard_rare {source="GARD:18931"} subset: ordo_malformation_syndrome {source="Orphanet:75857"} +xref: GARD:18931 {source="Orphanet:75857"} xref: ICD10CM:Q93.5 {source="Orphanet:75857", source="Orphanet:75857/attributed", source="Orphanet:75857/ntbt"} xref: Orphanet:75857 {source="MONDO:equivalentTo"} xref: SCTID:719666002 {source="MONDO:equivalentTo"} @@ -367786,12 +384227,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019165 name: central precocious puberty def: "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." [Orphanet:759] +subset: gard_rare {source="GARD:16546"} subset: ordo_disease {source="Orphanet:759"} synonym: "CPP" EXACT ABBREVIATION [Orphanet:759] synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759] synonym: "gonadotropin-dependent precocious puberty" EXACT [] synonym: "precocious puberty, central" EXACT [OMIMPS:176400] xref: DOID:0112308 {source="MONDO:equivalentTo"} +xref: GARD:16546 {source="Orphanet:759"} xref: ICD10CM:E22.8 {source="Orphanet:759", source="Orphanet:759/ntbt"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562787 {source="MONDO:equivalentTo"} @@ -367815,6 +384258,7 @@ replaced_by: MONDO:0005974 id: MONDO:0019167 name: immunoglobulin A vasculitis def: "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." [https://orcid.org/0000-0001-5208-3432, Orphanet:761] +subset: gard_rare {source="GARD:8204"} subset: ordo_disease {source="Orphanet:761"} synonym: "allergic purpura" EXACT [DOID:11123, ICD9CM:287.0] synonym: "anaphylactoid purpura" EXACT [Orphanet:761] @@ -367833,6 +384277,7 @@ synonym: "Schoenlein-Henoch purpura" EXACT [NCIT:C34963] synonym: "vascular purpura" RELATED [GARD:0008204] xref: DOID:11123 {source="MONDO:equivalentTo", source="EFO:1000965"} xref: EFO:1000965 {source="MONDO:equivalentTo"} +xref: GARD:8204 {source="Orphanet:761"} xref: ICD10CM:D69.0 {source="Orphanet:761/ntbt", source="DOID:11123", source="Orphanet:761"} xref: ICD9:287.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11123"} xref: MESH:D011695 {source="MONDO:equivalentTo", source="DOID:11123", source="EFO:1000965"} @@ -367862,7 +384307,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019168 name: pyomyositis def: "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." [Orphanet:764] -subset: gard_rare {source="GARD:0004614"} +subset: gard_rare {source="GARD:4614"} subset: ordo_disease {source="Orphanet:764"} synonym: "myositis purulenta tropica" EXACT [Orphanet:764] synonym: "myositis tropicans" EXACT [Orphanet:764] @@ -367871,6 +384316,7 @@ synonym: "suppurative myositis" EXACT [Orphanet:764] synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, Orphanet:764] xref: DOID:876 {source="MONDO:equivalentTo"} xref: EFO:1001409 {source="MONDO:equivalentTo"} +xref: GARD:4614 {source="Orphanet:764"} xref: ICD10CM:M60.0 {source="Orphanet:764", source="DOID:876", source="Orphanet:764/ntbt"} xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037652 {source="Orphanet:764", source="Orphanet:764/e"} @@ -367890,6 +384336,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4614/pyomyos id: MONDO:0019169 name: pyruvate dehydrogenase deficiency def: "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." [Orphanet:765] +subset: gard_rare {source="GARD:7513"} subset: ordo_disease {source="Orphanet:765"} synonym: "deficiency of pyruvic dehydrogenase" EXACT [DOID:3649] synonym: "PDH" EXACT ABBREVIATION [Orphanet:765] @@ -367900,6 +384347,7 @@ synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [DOID:3649] synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649] xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"} xref: EFO:0007459 {source="MONDO:equivalentTo"} +xref: GARD:7513 {source="Orphanet:765"} xref: ICD10CM:E74.4 {source="Orphanet:765/ntbt", source="Orphanet:765", source="DOID:3649", source="Orphanet:765/inclusion"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D015325 {source="Orphanet:765", source="EFO:0007459", source="Orphanet:765/e", source="DOID:3649"} @@ -367927,6 +384375,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:312170"} ! inheri id: MONDO:0019170 name: polyarteritis nodosa def: "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." [Orphanet:767] +subset: gard_rare {source="GARD:7360"} subset: ordo_disease {source="Orphanet:767"} synonym: "classic polyarteritis nodosa" EXACT [NCIT:C26847] synonym: "classical polyarteritis nodosa" EXACT [NCIT:C26847] @@ -367938,6 +384387,7 @@ synonym: "periarteritis nodosa" EXACT [NCIT:C26847, Orphanet:767] synonym: "polyarteritis" RELATED [GARD:0007360] synonym: "polyarteritis nodosa" EXACT [NCIT:C26847] xref: DOID:9810 {source="MONDO:equivalentTo"} +xref: GARD:7360 {source="Orphanet:767"} xref: ICD10CM:M30.0 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} xref: ICD9:446.0 {source="DOID:9810", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036024 {source="Orphanet:767", source="Orphanet:767/e"} @@ -367960,6 +384410,7 @@ id: MONDO:0019171 name: familial long QT syndrome def: "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." [Orphanet:768] subset: clingen +subset: gard_rare {source="GARD:16547", source="GARD:3284"} subset: ordo_disease {source="Orphanet:768"} synonym: "congenital long QT syndrome" EXACT [Orphanet:768] synonym: "familial long QT syndrome" EXACT CLINGEN_PREFERRED [] @@ -367968,6 +384419,8 @@ synonym: "LQTS" EXACT ABBREVIATION [Orphanet:768] synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016] synonym: "Romano-Ward syndrome" EXACT [OMIM:192500] synonym: "Ward-Romano syndrome" EXACT [OMIM:192500] +xref: GARD:16547 {source="Orphanet:768"} +xref: GARD:3284 {source="Orphanet:101016"} xref: ICD10CM:I45.8 {source="Orphanet:768/attributed", source="Orphanet:768/ntbt", source="Orphanet:768"} xref: MedDRA:10057926 {source="Orphanet:768", source="Orphanet:768/e"} xref: OMIMPS:192500 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -367987,7 +384440,6 @@ id: MONDO:0019172 name: aniridia def: "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." [Orphanet:77] subset: disease_grouping -subset: gard_rare {source="GARD:0005816"} subset: ordo_group_of_disorders {source="Orphanet:77"} synonym: "aplasia of iris" EXACT [DOID:12271] xref: DOID:12271 {source="MONDO:equivalentTo"} @@ -368011,10 +384463,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5816/aniridi id: MONDO:0019173 name: rabies def: "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." [Orphanet:770] -subset: gard_rare {source="GARD:0007516"} +subset: gard_rare {source="GARD:7516"} subset: ordo_disease {source="Orphanet:770"} synonym: "lyssa" EXACT [DOID:11260] xref: DOID:11260 {source="MONDO:equivalentTo"} +xref: GARD:7516 {source="Orphanet:770"} xref: ICD10CM:A82 {source="DOID:11260", source="MONDO:equivalentTo"} xref: ICD10CM:A82.0 {source="Orphanet:770/btnt", source="Orphanet:770"} xref: ICD10CM:A82.1 {source="Orphanet:770/btnt", source="Orphanet:770"} @@ -368043,8 +384496,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7516/rabies" id: MONDO:0019174 name: obsolete infantile Refsum disease def: "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." [Orphanet:772] +subset: gard_rare {source="GARD:4648"} subset: ordo_disease {source="Orphanet:772"} xref: DOID:0050444 {source="MONDO:obsoleteEquivalent"} +xref: GARD:4648 {source="MONDO:obsoleteEquivalent", source="Orphanet:772"} xref: ICD10CM:G60.1 {source="Orphanet:772/attributed", source="Orphanet:772/ntbt", source="Orphanet:772"} xref: MESH:D052919 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} xref: NCIT:C84789 {source="MONDO:obsoleteEquivalent"} @@ -368062,9 +384517,11 @@ id: MONDO:0019175 name: primary lymphedema def: "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." [NCIT:C48829] subset: disease_grouping +subset: gard_rare {source="GARD:18932"} subset: ordo_group_of_disorders {source="Orphanet:77240"} synonym: "primary lymphedema" EXACT [NCIT:C48829] synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240] +xref: GARD:18932 {source="Orphanet:77240"} xref: ICD10CM:I89.0 {source="Orphanet:77240/attributed", source="Orphanet:77240/ntbt", source="Orphanet:77240"} xref: NCIT:C48829 {source="MONDO:equivalentTo"} xref: Orphanet:77240 {source="MONDO:equivalentTo"} @@ -368075,7 +384532,9 @@ is_a: MONDO:0019297 {source="NCIT:C48829", source="Orphanet:77240"} ! lymphedema id: MONDO:0019176 name: obsolete trichorhinophalangeal syndrome type I or III def: "OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258] +subset: gard_rare {source="GARD:15017"} synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258] +xref: GARD:15017 {source="Orphanet:77258", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="Orphanet:77258/attributed", source="Orphanet:77258/ntbt"} xref: Orphanet:77258 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205736 {source="MONDO:obsoleteEquivalent"} @@ -368091,9 +384550,11 @@ is_obsolete: true id: MONDO:0019177 name: odontoleukodystrophy def: "Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." [Orphanet:77295] +subset: gard_rare {source="GARD:9632"} subset: ordo_disease {source="Orphanet:77295"} synonym: "dentoleukoencephalopathy" EXACT [Orphanet:77295] synonym: "leukodystrophy with oligodontia" EXACT [Orphanet:77295] +xref: GARD:9632 {source="Orphanet:77295"} xref: ICD10CM:E75.2 {source="Orphanet:77295/attributed", source="Orphanet:77295/ntbt", source="Orphanet:77295"} xref: Orphanet:77295 {source="MONDO:equivalentTo"} xref: SCTID:722064003 {source="MONDO:equivalentTo"} @@ -368106,7 +384567,9 @@ property_value: confidence "0.10578651685393292" xsd:double id: MONDO:0019178 name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome def: "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." [Orphanet:77300] +subset: gard_rare {source="GARD:18933"} subset: ordo_malformation_syndrome {source="Orphanet:77300"} +xref: GARD:18933 {source="Orphanet:77300"} xref: ICD10CM:Q87.0 {source="Orphanet:77300/attributed", source="Orphanet:77300/ntbt", source="Orphanet:77300"} xref: Orphanet:77300 {source="MONDO:equivalentTo"} xref: UMLS:CN205748 {source="MONDO:equivalentTo"} @@ -368116,8 +384579,10 @@ is_a: MONDO:0015161 {source="Orphanet:77300"} ! multiple congenital anomalies/dy id: MONDO:0019179 name: monosomy 9q22.3 def: "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." [Orphanet:77301] +subset: gard_rare {source="GARD:18934"} subset: ordo_malformation_syndrome {source="Orphanet:77301"} synonym: "microdeletion 9q22.3" EXACT [Orphanet:77301] +xref: GARD:18934 {source="Orphanet:77301"} xref: ICD10CM:Q93.5 {source="Orphanet:77301", source="Orphanet:77301/attributed", source="Orphanet:77301/ntbt"} xref: MESH:C579873 {source="MONDO:equivalentTo"} xref: Orphanet:77301 {source="MONDO:equivalentTo"} @@ -368132,6 +384597,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019180 name: hereditary hemorrhagic telangiectasia def: "A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." [Orphanet:774] +subset: gard_rare {source="GARD:6626"} subset: ordo_disease {source="Orphanet:774"} synonym: "hereditary hemorrhagic telangiectasia" EXACT CLINGEN_PREFERRED [] synonym: "HHT" EXACT ABBREVIATION [Orphanet:774] @@ -368142,6 +384608,7 @@ synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, Orphanet:774] synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT:C35064] synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300] xref: DOID:1270 {source="MONDO:equivalentTo"} +xref: GARD:6626 {source="Orphanet:774"} xref: ICD10CM:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270", source="Orphanet:774/specific"} xref: ICD9:448.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1270"} xref: MedDRA:10019883 {source="Orphanet:774", source="Orphanet:774/e"} @@ -368171,6 +384638,7 @@ id: MONDO:0019181 name: non-syndromic X-linked intellectual disability def: "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." [Orphanet:777] subset: clingen +subset: gard_rare {source="GARD:18640"} subset: ordo_etiological_subtype {source="Orphanet:777"} synonym: "intellectual disability, nonsyndromic, X-linked" EXACT [OMIMPS:309530] synonym: "intellectual disability, X-linked, nonsyndromic" EXACT [MONDO:0000168] @@ -368185,6 +384653,7 @@ synonym: "nonsyndromic X-linked intellectual disability" EXACT [https://orcid.or synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777] synonym: "X-linked non-syndromic intellectual disability" EXACT [Orphanet:777] xref: DOID:0050776 {source="MONDO:equivalentTo"} +xref: GARD:18640 {source="Orphanet:777"} xref: MESH:C564490 {source="MONDO:equivalentTo"} xref: OMIMPS:309530 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"} @@ -368201,6 +384670,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309530"} ! inheri id: MONDO:0019182 name: inherited obesity subset: disease_grouping +subset: gard_rare {source="GARD:18935"} subset: ordo_group_of_disorders {source="Orphanet:77828"} synonym: "genetic obesity" EXACT [] synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic, Orphanet:77828] @@ -368213,6 +384683,7 @@ synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [OMIM:601665, O synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, severe, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] +xref: GARD:18935 {source="Orphanet:77828"} xref: ICD10CM:E66.8 {source="Orphanet:77828/attributed", source="Orphanet:77828/ntbt", source="Orphanet:77828"} xref: OMIM:601665 {source="MONDO:equivalentTo"} xref: Orphanet:77828 {source="MONDO:equivalentTo"} @@ -368228,7 +384699,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019183 name: obsolete inherited odontologic disease subset: disease_grouping +subset: gard_rare {source="GARD:18936"} subset: ordo_group_of_disorders {source="Orphanet:77830"} +xref: GARD:18936 {source="Orphanet:77830", source="MONDO:obsoleteEquivalent"} xref: Orphanet:77830 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205756 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -368255,7 +384728,7 @@ replaced_by: MONDO:0005212 id: MONDO:0019186 name: Q fever def: "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." [NCIT:C34970] -subset: gard_rare {source="GARD:0007515"} +subset: gard_rare {source="GARD:7515"} subset: ordo_disease {source="Orphanet:781"} synonym: "Coxiella burnetii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Coxiella burnetii disease or disorder" EXACT [] @@ -368269,6 +384742,7 @@ synonym: "quadrilateral fever" EXACT [Orphanet:781] synonym: "query fever" EXACT [Orphanet:781] xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"} xref: EFO:0005224 {source="MONDO:equivalentTo"} +xref: GARD:7515 {source="Orphanet:781"} xref: ICD10CM:A78 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11100"} xref: MedDRA:10037688 {source="Orphanet:781/e", source="Orphanet:781"} @@ -368300,7 +384774,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7515/q-fever id: MONDO:0019187 name: Axenfeld-Rieger syndrome def: "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." [Orphanet:782] -subset: gard_rare {source="GARD:0005701"} +subset: gard_rare {source="GARD:5701"} subset: ordo_malformation_syndrome {source="Orphanet:782"} synonym: "anomaly, Rieger's" EXACT [DOID:14686] synonym: "Axenfeld syndrome" EXACT [DOID:14686, Orphanet:782] @@ -368312,6 +384786,7 @@ synonym: "RGS - Rieger syndrome" EXACT [DOID:14686] synonym: "Rieger syndrome" EXACT [Orphanet:782] synonym: "Rieger's anomaly" EXACT [DOID:14686] xref: DOID:14686 {source="MONDO:equivalentTo"} +xref: GARD:5701 {source="Orphanet:782"} xref: ICD10CM:Q13.8 {source="Orphanet:782/attributed", source="Orphanet:782/ntbt", source="Orphanet:782"} xref: ICD10CM:Q13.81 {source="DOID:14686"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -368339,6 +384814,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5701/axenfel id: MONDO:0019188 name: Rubinstein-Taybi syndrome def: "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." [Orphanet:783] +subset: gard_rare {source="GARD:7593"} subset: ordo_malformation_syndrome {source="Orphanet:783"} synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, Orphanet:783] synonym: "Broad thumbs-halluces syndrome" EXACT [Orphanet:783] @@ -368348,6 +384824,7 @@ synonym: "Rubinstein syndrome" EXACT [DOID:1933] synonym: "Rubinstein-Taybi Syndrome" EXACT [DECIPHER:7] xref: DECIPHER:7 {source="MONDO:equivalentTo"} xref: DOID:1933 {source="MONDO:equivalentTo"} +xref: GARD:7593 {source="Orphanet:783"} xref: ICD10CM:Q87.2 {source="Orphanet:783/ntbt", source="DOID:1933", source="Orphanet:783/inclusion", source="Orphanet:783"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039281 {source="Orphanet:783/e", source="Orphanet:783"} @@ -368378,9 +384855,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019189 name: inborn disorder of amino acid and other organic acid metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18937"} subset: ordo_group_of_disorders {source="Orphanet:79062"} synonym: "disorder of amino acid and organic acid metabolism" EXACT [] synonym: "disorder of amino acid and other organic acid metabolism" RELATED [Orphanet:79062] +xref: GARD:18937 {source="Orphanet:79062"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79062 {source="MONDO:equivalentTo"} xref: SCTID:237911005 {source="MONDO:equivalentTo"} @@ -368393,10 +384872,12 @@ intersection_of: disease_disrupts GO:0006082 ! organic acid metabolic process id: MONDO:0019190 name: juvenile polyposis of infancy def: "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." [Orphanet:79076] +subset: gard_rare {source="GARD:16696"} subset: ordo_clinical_subtype {source="Orphanet:79076"} synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076] synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] +xref: GARD:16696 {source="Orphanet:79076"} xref: ICD10CM:D12.6 {source="Orphanet:79076", source="Orphanet:79076/attributed", source="Orphanet:79076/ntbt"} xref: Orphanet:79076 {source="MONDO:equivalentTo"} xref: UMLS:CN205768 {source="MONDO:equivalentTo"} @@ -368409,7 +384890,7 @@ property_value: confidence "2.1078421052631597" xsd:double id: MONDO:0019191 name: IgG4-related dacryoadenitis and sialadenitis def: "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." [Orphanet:79078] -subset: gard_rare {source="GARD:0007043"} +subset: gard_rare {source="GARD:7043"} subset: ordo_disease {source="Orphanet:79078"} synonym: "chronic dacryoadenitis and sialadenitis" EXACT [Orphanet:79078] synonym: "Mikulicz disease" EXACT [MONDO:0001599, NCIT:C34819, Orphanet:79078] @@ -368418,6 +384899,7 @@ synonym: "Mikulicz syndrome (former)" RELATED [GARD:0007043] synonym: "Mikulicz's disease" EXACT [DOID:12900] synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043] xref: DOID:12900 {source="MONDO:equivalentTo"} +xref: GARD:7043 {source="Orphanet:79078"} xref: ICD10CM:K11.8 {source="DOID:12900", source="Orphanet:79078", source="Orphanet:79078/ntbt"} xref: MedDRA:10051457 {source="Orphanet:79078/e", source="Orphanet:79078"} xref: MedDRA:10052317 {source="Orphanet:79078/e", source="Orphanet:79078"} @@ -368437,9 +384919,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7043/igg4-re [Term] id: MONDO:0019192 name: AKT2-related familial partial lipodystrophy +subset: gard_rare {source="GARD:12599"} subset: ordo_disease {source="Orphanet:79085"} synonym: "AKT2-related FPLD" EXACT [Orphanet:79085] synonym: "familial partial lipodystrophy due to AKT2 mutations" RELATED [GARD:0012599] +xref: GARD:12599 {source="Orphanet:79085"} xref: ICD10CM:E88.1 {source="Orphanet:79085", source="Orphanet:79085/attributed", source="Orphanet:79085/ntbt"} xref: Orphanet:79085 {source="MONDO:equivalentTo"} xref: UMLS:CN205772 {source="MONDO:equivalentTo"} @@ -368450,13 +384934,14 @@ is_a: MONDO:0020088 {source="Orphanet:79085"} ! familial partial lipodystrophy id: MONDO:0019193 name: acquired generalized lipodystrophy def: "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." [Orphanet:79086] -subset: gard_rare {source="GARD:0012603"} +subset: gard_rare {source="GARD:12603"} subset: ordo_disease {source="Orphanet:79086"} synonym: "acquired generalized lipodystrophy" EXACT [MONDO:patterns/acquired] synonym: "acquired lipoatrophic diabetes" EXACT [Orphanet:79086] synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086] synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086] xref: DOID:0080300 {source="MONDO:equivalentTo"} +xref: GARD:12603 {source="Orphanet:79086"} xref: ICD10CM:E88.1 {source="Orphanet:79086", source="Orphanet:79086/ntbt"} xref: NCIT:C131089 {source="MONDO:equivalentTo"} xref: Orphanet:79086 {source="MONDO:equivalentTo"} @@ -368476,7 +384961,7 @@ id: MONDO:0019194 name: localized lipodystrophy def: "Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body." [Orphanet:79088] subset: disease_grouping -subset: gard_rare {source="GARD:0005867"} +subset: gard_rare {source="GARD:5867"} subset: ordo_group_of_disorders {source="Orphanet:79088"} synonym: "centrifugal lipodystrophy (subtype)" RELATED [GARD:0005867] synonym: "drug-induced localised lipodystrophy (subtype)" RELATED OMO:0003005 [] @@ -368488,6 +384973,7 @@ synonym: "panniculitis and localised lipodystrophy (subtype)" RELATED OMO:000300 synonym: "panniculitis and localized lipodystrophy (subtype)" RELATED [GARD:0005867] synonym: "pressure-induced localised lipoatrophy (subtype)" RELATED OMO:0003005 [] synonym: "pressure-induced localized lipoatrophy (subtype)" RELATED [GARD:0005867] +xref: GARD:5867 {source="Orphanet:79088"} xref: ICD10CM:E88.1 {source="Orphanet:79088/ntbt", source="Orphanet:79088"} xref: NCIT:C131814 {source="MONDO:equivalentTo"} xref: Orphanet:79088 {source="MONDO:equivalentTo"} @@ -368501,6 +384987,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5867/localiz id: MONDO:0019195 name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome def: "Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." [Orphanet:79091] +subset: gard_rare {source="GARD:9494"} subset: ordo_disease {source="Orphanet:79091"} synonym: "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" RELATED [GARD:0009494] synonym: "Hereditary inclusion body myopathy type 3" RELATED [GARD:0009494] @@ -368510,6 +384997,7 @@ synonym: "IBM3" EXACT ABBREVIATION [GARD:0009494, Orphanet:79091] synonym: "Inclusion body myopathy autosomal dominant" RELATED [GARD:0009494] synonym: "inclusion body myopathy type 3" EXACT [Orphanet:79091] synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [GARD:0009494] +xref: GARD:9494 {source="Orphanet:79091"} xref: ICD10CM:G71.8 {source="Orphanet:79091/attributed", source="Orphanet:79091/ntbt", source="Orphanet:79091"} xref: Orphanet:79091 {source="GARD:0009494", source="MONDO:equivalentTo"} xref: SCTID:724349009 {source="MONDO:equivalentTo"} @@ -368522,12 +385010,14 @@ property_value: confidence "0.00588235294117645" xsd:double id: MONDO:0019196 name: Foix-Alajouanine syndrome def: "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterized by progressive ascending deficit over a period of several months or years." [Orphanet:79093] +subset: gard_rare {source="GARD:4163"} subset: ordo_malformation_syndrome {source="Orphanet:79093"} synonym: "angiodysgenetic necrotizing myelopathy" EXACT [Orphanet:79093] synonym: "familial osteosclerosis with abnormalities of the nervous system and meninges" EXACT [Orphanet:79093] synonym: "Subacute angiohypertrophic myelomalacia" EXACT [Orphanet:79093] synonym: "Subacute ascending necrotizing myelitis" EXACT [Orphanet:79093] synonym: "Subacute necrotizing myelitis" EXACT [Orphanet:79093] +xref: GARD:4163 {source="Orphanet:79093"} xref: ICD10CM:G37.4 {source="Orphanet:79093/ntbt", source="Orphanet:79093"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79093 {source="MONDO:equivalentTo"} @@ -368543,8 +385033,10 @@ id: MONDO:0019197 name: folinic acid-responsive seizures def: "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." [Orphanet:79097] comment: Editor note: TODO request from CHEBI +subset: gard_rare {source="GARD:18938"} subset: ordo_disease {source="Orphanet:79097"} synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] +xref: GARD:18938 {source="Orphanet:79097"} xref: ICD10CM:G40.3 {source="Orphanet:79097", source="Orphanet:79097/attributed", source="Orphanet:79097/ntbt"} xref: Orphanet:79097 {source="MONDO:equivalentTo"} xref: SCTID:717276003 {source="MONDO:equivalentTo"} @@ -368556,11 +385048,13 @@ is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic id: MONDO:0019198 name: sympathetic ophthalmia def: "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." [Orphanet:79098] +subset: gard_rare {source="GARD:18939"} subset: ordo_disease {source="Orphanet:79098"} synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991] synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM:360.11, Orphanet:79098] xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"} xref: EFO:1001205 {source="MONDO:equivalentTo"} +xref: GARD:18939 {source="Orphanet:79098"} xref: ICD10CM:H44.1 {source="Orphanet:79098", source="Orphanet:79098/ntbt"} xref: ICD10CM:H44.13 {source="DOID:12029"} xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -368576,9 +385070,11 @@ is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis id: MONDO:0019199 name: interstitial granulomatous dermatitis with arthritis def: "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." [Orphanet:79099] +subset: gard_rare {source="GARD:18940"} subset: ordo_disease {source="Orphanet:79099"} synonym: "Ackerman dermatitis syndrome" EXACT [Orphanet:79099] synonym: "IGDA" EXACT ABBREVIATION [Orphanet:79099] +xref: GARD:18940 {source="Orphanet:79099"} xref: Orphanet:79099 {source="MONDO:equivalentTo"} xref: UMLS:CN205782 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder @@ -368590,12 +385086,14 @@ id: MONDO:0019200 name: retinitis pigmentosa def: "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [Orphanet:791] subset: clingen +subset: gard_rare {source="GARD:5694"} subset: ordo_disease {source="Orphanet:791"} subset: prototype_pattern synonym: "pericentral pigmentary retinopathy" NARROW [DOID:10584] synonym: "retinitis pigmentosa" EXACT CLINGEN_PREFERRED [] synonym: "Rod-cone dystrophy" RELATED [GARD:0005694] xref: DOID:10584 {source="MONDO:equivalentTo"} +xref: GARD:5694 {source="Orphanet:791"} xref: ICD10CM:H35.5 {source="Orphanet:791/inclusion", source="Orphanet:791", source="Orphanet:791/ntbt", source="MONDO:directSiblingOf"} xref: ICD10CM:H35.52 {source="DOID:10584"} xref: MedDRA:10038914 {source="Orphanet:791/e", source="Orphanet:791"} @@ -368622,9 +385120,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019201 name: thyrotoxic periodic paralysis def: "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." [Orphanet:79102] -subset: gard_rare {source="GARD:0010814"} +subset: gard_rare {source="GARD:10814"} subset: ordo_disease {source="Orphanet:79102"} synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102] +xref: GARD:10814 {source="Orphanet:79102"} xref: ICD10CM:G72.3 {source="Orphanet:79102/ntbt", source="Orphanet:79102"} xref: MedDRA:10043788 {source="Orphanet:79102/e", source="Orphanet:79102"} xref: OMIMPS:188580 {source="MONDO:equivalentTo"} @@ -368641,6 +385140,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10814/thyrot id: MONDO:0019202 name: myxofibrosarcoma def: "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." [NCIT:C6496] +subset: gard_rare {source="GARD:18941"} subset: ordo_disease {source="Orphanet:79105"} synonym: "fibromyxosarcoma" EXACT [Orphanet:79105] synonym: "MFS" RELATED ABBREVIATION [ONCOTREE:MFS] @@ -368649,6 +385149,7 @@ synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496] synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105] synonym: "myxoid MFH" EXACT [NCIT:C6496] xref: DOID:0080534 {source="MONDO:equivalentTo"} +xref: GARD:18941 {source="Orphanet:79105"} xref: ICD10CM:C49.9 {source="Orphanet:79105", source="Orphanet:79105/ntbt"} xref: ICDO:8811/3 {source="NCIT:C6496"} xref: MedDRA:10066948 {source="Orphanet:79105", source="Orphanet:79105/e"} @@ -368665,6 +385166,7 @@ relationship: excluded_subClassOf MONDO:0016123 {source="Orphanet:79105"} ! obso id: MONDO:0019203 name: acute interstitial pneumonia def: "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia." [Orphanet:79126] +subset: gard_rare {source="GARD:12835"} subset: ordo_disease {source="Orphanet:79126"} synonym: "accelerated interstitial pneumonia" EXACT [DOID:2800] synonym: "acute interstitial pneumonitis" EXACT [DOID:2800, Orphanet:79126] @@ -368673,6 +385175,7 @@ synonym: "Hamman-rich disease" EXACT [DOID:2800] synonym: "Hamman-rich syndrome" EXACT [DOID:2800, Orphanet:79126] synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [DOID:2800] xref: DOID:2800 {source="MONDO:equivalentTo"} +xref: GARD:12835 {source="Orphanet:79126"} xref: ICD10CM:J84.1 {source="Orphanet:79126/ntbt", source="Orphanet:79126"} xref: ICD10CM:J84.114 {source="DOID:2800"} xref: ICD9:516.33 {source="DOID:2800"} @@ -368694,8 +385197,10 @@ property_value: confidence "0.5823588235294124" xsd:double id: MONDO:0019204 name: respiratory bronchiolitis-interstitial lung disease syndrome def: "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." [Orphanet:79127] +subset: gard_rare {source="GARD:18942"} subset: ordo_disease {source="Orphanet:79127"} synonym: "RB-ILD" EXACT [Orphanet:79127] +xref: GARD:18942 {source="Orphanet:79127"} xref: ICD10CM:J68.4 {source="Orphanet:79127", source="Orphanet:79127/ntbt"} xref: MedDRA:10066393 {source="Orphanet:79127", source="Orphanet:79127/e"} xref: Orphanet:79127 {source="MONDO:equivalentTo"} @@ -368708,7 +385213,9 @@ is_a: MONDO:0002429 {source="Orphanet:79127"} ! idiopathic interstitial pneumoni id: MONDO:0019205 name: trichodysplasia-amelogenesis imperfecta syndrome def: "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." [Orphanet:79129] +subset: gard_rare {source="GARD:18943"} subset: ordo_malformation_syndrome {source="Orphanet:79129"} +xref: GARD:18943 {source="Orphanet:79129"} xref: Orphanet:79129 {source="MONDO:equivalentTo"} xref: UMLS:CN205796 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:79129"} ! ectodermal dysplasia syndrome @@ -368726,9 +385233,11 @@ is_a: MONDO:0019287 {source="Orphanet:79132"} ! ectodermal dysplasia syndrome id: MONDO:0019207 name: DEND syndrome def: "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." [Orphanet:79134] +subset: gard_rare {source="GARD:16701"} subset: ordo_disease {source="Orphanet:79134"} synonym: "developmental delay-epilepsy-neonatal diabetes syndrome" EXACT [Orphanet:79134] synonym: "K ATP associated developmental delay, epilepsy and neonatal diabetes" EXACT [NCIT:C131845] +xref: GARD:16701 {source="Orphanet:79134"} xref: ICD10CM:P70.2 {source="Orphanet:79134/attributed", source="Orphanet:79134/ntbt", source="Orphanet:79134"} xref: NCIT:C131845 {source="MONDO:equivalentTo"} xref: Orphanet:79134 {source="MONDO:equivalentTo"} @@ -368743,7 +385252,9 @@ property_value: confidence "3.250000000000001" xsd:double id: MONDO:0019208 name: Bickerstaff brainstem encephalitis def: "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." [Orphanet:79138] +subset: gard_rare {source="GARD:18944"} subset: ordo_disease {source="Orphanet:79138"} +xref: GARD:18944 {source="Orphanet:79138"} xref: ICD10CM:G61.0 {source="Orphanet:79138", source="Orphanet:79138/ntbt"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79138 {source="MONDO:equivalentTo"} @@ -368755,12 +385266,13 @@ is_a: MONDO:0020068 {source="Orphanet:79138"} ! postinfectious encephalitis id: MONDO:0019209 name: Japanese encephalitis def: "A disease due to a virus transmitted by an arthropod)." [Orphanet:79139] -subset: gard_rare {source="GARD:0006797"} +subset: gard_rare {source="GARD:6797"} subset: ordo_disease {source="Orphanet:79139"} synonym: "Japanese B encephalitis" EXACT [DOID:10844] synonym: "JE" RELATED ABBREVIATION [GARD:0006797] xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"} xref: EFO:0007332 {source="MONDO:equivalentTo"} +xref: GARD:6797 {source="Orphanet:79139"} xref: ICD10CM:A83.0 {source="Orphanet:79139", source="DOID:10844", source="Orphanet:79139/e"} xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014596 {source="Orphanet:79139", source="Orphanet:79139/e"} @@ -368787,6 +385299,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6797/japanes id: MONDO:0019210 name: cutaneous neuroendocrine carcinoma def: "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." [Orphanet:79140] +subset: gard_rare {source="GARD:9266"} subset: ordo_disease {source="Orphanet:79140"} synonym: "carcinoma of Merkel cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, Merkel cell" RELATED [GARD:0009266] @@ -368805,6 +385318,7 @@ synonym: "neuroendocrine skin carcinoma" EXACT [NCIT:C9231] synonym: "trabecular cancer" EXACT [NCIT:C9231] synonym: "trabecular skin carcinoma" EXACT [NCIT:C9231] xref: EFO:1001471 {source="MONDO:equivalentTo"} +xref: GARD:9266 {source="Orphanet:79140"} xref: ICD10CM:C44.3 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD10CM:C44.7 {source="Orphanet:79140", source="Orphanet:79140/btnt"} @@ -368829,11 +385343,13 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79140"} ! obso id: MONDO:0019211 name: isolated congenital anonychia def: "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." [Orphanet:79143] +subset: gard_rare {source="GARD:10048"} subset: ordo_disease {source="Orphanet:79143"} synonym: "autosomal recessive nonsyndromic congenital nail disorder-4" RELATED [GARD:0012930] synonym: "congenital anonychia" RELATED [GARD:0012930] synonym: "isolated anonychia" EXACT [Orphanet:79143] synonym: "nonsyndromic congenital nail disorder, 4" RELATED [GARD:0012930] +xref: GARD:10048 {source="Orphanet:79143"} xref: ICD10CM:Q84.3 {source="Orphanet:79143/e", source="Orphanet:79143/specific", source="Orphanet:79143"} xref: Orphanet:79143 {source="MONDO:equivalentTo"} xref: UMLS:C0265998 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79143"} @@ -368843,7 +385359,9 @@ is_a: MONDO:0019284 {source="Orphanet:79143"} ! inherited isolated nail anomaly id: MONDO:0019212 name: disseminated superficial actinic porokeratosis def: "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." [Orphanet:79152] +subset: gard_rare {source="GARD:10983"} subset: ordo_disease {source="Orphanet:79152"} +xref: GARD:10983 {source="Orphanet:79152"} xref: ICD10CM:Q82.8 {source="Orphanet:79152", source="Orphanet:79152/attributed", source="Orphanet:79152/ntbt"} xref: ICD9:692.75 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79152 {source="MONDO:equivalentTo"} @@ -368858,8 +385376,10 @@ relationship: has_characteristic MONDO:0022202 ! disseminated id: MONDO:0019213 name: obsolete cerebral organic aciduria def: "OBSOLETE. A inherited organic acidemia that involves the brain." [MONDO:patterns/location] +subset: gard_rare {source="GARD:18945"} synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern] +xref: GARD:18945 {source="MONDO:obsoleteEquivalent", source="Orphanet:79158"} xref: Orphanet:79158 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -368873,6 +385393,7 @@ id: MONDO:0019214 name: inborn carbohydrate metabolic disorder def: "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18946"} subset: ordo_group_of_disorders {source="Orphanet:79161"} synonym: "carbohydrate metabolic disorder" RELATED [DOID:2978] synonym: "carbohydrate metabolism disorder" EXACT [NCIT:C97089] @@ -368885,6 +385406,7 @@ synonym: "inborn errors of carbohydrate metabolism" EXACT [DOID:2978] synonym: "rare inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:2978 {source="MONDO:equivalentTo"} xref: EFO:1000061 {source="MONDO:equivalentTo"} +xref: GARD:18946 {source="Orphanet:79161"} xref: ICD9:271.8 {source="DOID:2978"} xref: MedDRA:10061023 {source="Orphanet:79161", source="Orphanet:79161/e"} xref: MESH:D002239 {source="MONDO:equivalentTo", source="DOID:2978"} @@ -368901,7 +385423,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate me id: MONDO:0019215 name: classic organic aciduria subset: disease_grouping +subset: gard_rare {source="GARD:18947"} subset: ordo_group_of_disorders {source="Orphanet:79163"} +xref: GARD:18947 {source="Orphanet:79163"} xref: Orphanet:79163 {source="MONDO:equivalentTo"} is_a: MONDO:0000688 {source="Orphanet:79163"} ! inborn organic aciduria @@ -368909,9 +385433,11 @@ is_a: MONDO:0000688 {source="Orphanet:79163"} ! inborn organic aciduria id: MONDO:0019216 name: inborn disorder of amino acid transport subset: disease_grouping +subset: gard_rare {source="GARD:18948"} subset: ordo_group_of_disorders {source="Orphanet:79166"} synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166] synonym: "inborn disorder of amino acid absorption and transport" EXACT [] +xref: GARD:18948 {source="Orphanet:79166"} xref: ICD10CM:E72.0 {source="Orphanet:79166/e", source="Orphanet:79166/specific", source="Orphanet:79166"} xref: ICD9:270.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79166 {source="MONDO:equivalentTo"} @@ -368934,12 +385460,14 @@ id: MONDO:0019218 name: inborn disorder of bile acid synthesis def: "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." [Orphanet:79168] subset: disease_grouping +subset: gard_rare {source="GARD:18949"} subset: ordo_group_of_disorders {source="Orphanet:79168"} synonym: "disorder of bile acid synthesis" RELATED [Orphanet:79168] synonym: "inborn bile acid biosynthetic process disorder" EXACT [] synonym: "inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn errors of bile acid synthesis" RELATED [GTR:AN0923838] synonym: "rare inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18949 {source="Orphanet:79168"} xref: GTR:AN0923838 xref: Orphanet:79168 {source="MONDO:equivalentTo"} xref: UMLS:CN231736 {source="MONDO:equivalentTo"} @@ -368952,8 +385480,10 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006699 ! bile acid biosy id: MONDO:0019219 name: inborn disorder of neurotransmitter metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:18950"} subset: ordo_group_of_disorders {source="Orphanet:79169"} synonym: "disorder of neurotransmitter metabolism and transport" RELATED [Orphanet:79169] +xref: GARD:18950 {source="Orphanet:79169"} xref: Orphanet:79169 {source="MONDO:equivalentTo"} xref: UMLS:CN227586 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79169"} ! inborn disorder of biogenic amine metabolism and transport @@ -368962,9 +385492,11 @@ is_a: MONDO:0019250 {source="Orphanet:79169"} ! inborn disorder of biogenic amin id: MONDO:0019220 name: inborn disorder of cobalamin metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:18951"} subset: ordo_group_of_disorders {source="Orphanet:79171"} synonym: "disorder of cobalamin metabolism and transport" RELATED [Orphanet:79171] synonym: "inborn disorder of cobalamin metabolism and transport" EXACT CLINGEN_PREFERRED [] +xref: GARD:18951 {source="Orphanet:79171"} xref: Orphanet:79171 {source="MONDO:equivalentTo"} xref: UMLS:CN043592 {source="MONDO:equivalentTo"} xref: UMLS:CN227587 {source="MONDO:equivalentTo"} @@ -368982,6 +385514,7 @@ name: inborn disorder of methionine cycle and sulfur amino acid metabolism def: "An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: check this subset: disease_grouping +subset: gard_rare {source="GARD:18953"} subset: ordo_group_of_disorders {source="Orphanet:79173"} synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173] synonym: "cytosolic methyl group transfer or sulphur amino acid metabolism disorder" EXACT OMO:0003005 [] @@ -368993,6 +385526,7 @@ synonym: "inborn sulfur amino acid metabolic process disorder" EXACT [] synonym: "inborn sulphur amino acid metabolic process disorder" EXACT OMO:0003005 [] synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] +xref: GARD:18953 {source="Orphanet:79173"} xref: ICD10CM:E72.1 {source="Orphanet:79173", source="Orphanet:79173/attributed", source="Orphanet:79173/ntbt"} xref: ICD9:270.4 {source="MONDO:i2s"} xref: Orphanet:79173 {source="MONDO:equivalentTo"} @@ -369006,9 +385540,11 @@ intersection_of: disease_has_basis_in_disruption_of GO:0000096 ! sulfur amino ac id: MONDO:0019223 name: disorder of fatty acid and ketone body metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18954"} subset: ordo_group_of_disorders {source="Orphanet:79174"} synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174] synonym: "inborn disorder of fatty acid oxidation and ketone body metabolism" EXACT [Orphanet:79174] +xref: GARD:18954 {source="Orphanet:79174"} xref: ICD10CM:E71.3 {source="Orphanet:79174", source="Orphanet:79174/attributed", source="Orphanet:79174/ntbt"} xref: Orphanet:79174 {source="MONDO:equivalentTo"} xref: UMLS:CN227590 {source="MONDO:equivalentTo"} @@ -369018,11 +385554,13 @@ is_a: MONDO:0019243 {source="Orphanet:79174"} ! inborn disorder of energy metabo id: MONDO:0019224 name: obsolete inborn disorder of gamma-aminobutyric acid metabolism def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." [MONDO:patterns/inborn_metabolic] +subset: gard_rare {source="GARD:18955"} synonym: "disorder of GABA metabolism" EXACT [Orphanet:79175] synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:79175] synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT [] synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18955 {source="MONDO:obsoleteEquivalent", source="Orphanet:79175"} xref: ICD10CM:E72.8 {source="Orphanet:79175", source="Orphanet:79175/attributed", source="Orphanet:79175/ntbt"} xref: Orphanet:79175 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227591 {source="MONDO:obsoleteEquivalent"} @@ -369037,11 +385575,13 @@ id: MONDO:0019225 name: disorder of gluconeogenesis def: "An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18956"} subset: ordo_group_of_disorders {source="Orphanet:79177"} synonym: "gluconeogenesis disorder" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gluconeogenesis disorder" EXACT [] synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18956 {source="Orphanet:79177"} xref: ICD10CM:E74.4 {source="Orphanet:79177", source="Orphanet:79177/attributed", source="Orphanet:79177/ntbt"} xref: Orphanet:79177 {source="MONDO:equivalentTo"} xref: UMLS:CN227592 {source="MONDO:equivalentTo"} @@ -369055,9 +385595,11 @@ id: MONDO:0019226 name: glucose transport disorder def: "An inherited metabolic disease that is has its basis in the disruption of glucose transport." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18957"} subset: ordo_group_of_disorders {source="Orphanet:79178"} synonym: "inborn error of glucose transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of glucose transport" RELATED [MONDO:patterns/inborn_metabolic] +xref: GARD:18957 {source="Orphanet:79178"} xref: ICD10CM:E74.8 {source="Orphanet:79178/attributed", source="Orphanet:79178/ntbt", source="Orphanet:79178"} xref: Orphanet:79178 {source="MONDO:equivalentTo"} xref: UMLS:CN227593 {source="MONDO:equivalentTo"} @@ -369070,10 +385612,12 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0019227 name: obsolete inborn disorder of glycerol metabolism def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/inborn_metabolic] +subset: gard_rare {source="GARD:18958"} synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179] synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol metabolic process disorder" EXACT [] synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18958 {source="MONDO:obsoleteEquivalent", source="Orphanet:79179"} xref: Orphanet:79179 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0342762 {source="Orphanet:79179/e", source="MONDO:relatedTo", source="Orphanet:79179"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369087,6 +385631,7 @@ id: MONDO:0019228 name: inborn disorder of histidine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18959"} subset: ordo_group_of_disorders {source="Orphanet:79181"} synonym: "disorder of histidine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of histidine metabolism" EXACT [Orphanet:79181] @@ -369099,6 +385644,7 @@ synonym: "inborn error of histidine metabolism" EXACT [MONDO:patterns/inborn_met synonym: "inborn histidine metabolic process disorder" EXACT [] synonym: "rare inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9265 {source="MONDO:equivalentTo"} +xref: GARD:18959 {source="Orphanet:79181"} xref: ICD10CM:E70.4 {source="DOID:9265"} xref: ICD10CM:E70.40 {source="MONDO:equivalentTo", source="DOID:9265"} xref: ICD10CM:E70.8 {source="Orphanet:79181/inclusion", source="Orphanet:79181/ntbt", source="Orphanet:79181"} @@ -369121,11 +385667,13 @@ id: MONDO:0019229 name: inborn disorder of ketolysis def: "An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18960"} subset: ordo_group_of_disorders {source="Orphanet:79183"} synonym: "disorder of ketolysis" BROAD [Orphanet:79183] synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ketone body catabolic process disorder" EXACT [] synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18960 {source="Orphanet:79183"} xref: ICD10CM:E71.3 {source="Orphanet:79183", source="Orphanet:79183/attributed", source="Orphanet:79183/ntbt"} xref: Orphanet:79183 {source="MONDO:equivalentTo"} xref: UMLS:CN227594 {source="MONDO:equivalentTo"} @@ -369137,8 +385685,10 @@ intersection_of: disease_has_basis_in_disruption_of GO:0046952 ! ketone body cat id: MONDO:0019230 name: inborn disorder of ornithine or proline metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18961"} subset: ordo_group_of_disorders {source="Orphanet:79185"} synonym: "disorder of ornithine or proline metabolism" RELATED [Orphanet:79185] +xref: GARD:18961 {source="Orphanet:79185"} xref: Orphanet:79185 {source="MONDO:equivalentTo"} xref: UMLS:CN227595 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:79185"} ! inborn disorder of amino acid and other organic acid metabolism @@ -369147,8 +385697,10 @@ is_a: MONDO:0019189 {source="Orphanet:79185"} ! inborn disorder of amino acid an id: MONDO:0019231 name: inborn disorder of pentose phosphate metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18962"} subset: ordo_group_of_disorders {source="Orphanet:79186"} synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186] +xref: GARD:18962 {source="Orphanet:79186"} xref: ICD10CM:E74.8 {source="Orphanet:79186", source="Orphanet:79186/attributed", source="Orphanet:79186/ntbt"} xref: Orphanet:79186 {source="MONDO:equivalentTo"} xref: UMLS:CN227596 {source="MONDO:equivalentTo"} @@ -369160,8 +385712,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019232 name: inborn disorder of peptide metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18963"} subset: ordo_group_of_disorders {source="Orphanet:79187"} synonym: "disorder of peptide metabolism" RELATED [Orphanet:79187] +xref: GARD:18963 {source="Orphanet:79187"} xref: Orphanet:79187 {source="MONDO:equivalentTo"} xref: UMLS:CN227597 {source="MONDO:equivalentTo"} is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism @@ -369172,9 +385726,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019233 name: disorder of peroxisomal beta oxidation subset: disease_grouping -subset: gard_rare {source="GARD:0012470"} +subset: gard_rare {source="GARD:12470"} subset: ordo_group_of_disorders {source="Orphanet:79188"} synonym: "disorder of peroxisomal beta oxidation" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] +xref: GARD:12470 {source="Orphanet:79188"} xref: ICD10CM:E71.3 {source="Orphanet:79188", source="Orphanet:79188/attributed", source="Orphanet:79188/ntbt"} xref: Orphanet:79188 {source="MONDO:equivalentTo"} xref: UMLS:CN227598 {source="MONDO:equivalentTo"} @@ -369187,6 +385742,7 @@ id: MONDO:0019234 name: peroxisome biogenesis disorder def: "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." [Orphanet:79189] subset: disease_grouping +subset: gard_rare {source="GARD:11890"} subset: ordo_group_of_disorders {source="Orphanet:79189"} synonym: "cerebrohepatorenal syndrome" NARROW [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "disorders of peroxisome biogenesis" RELATED [GARD:0009473] @@ -369206,6 +385762,7 @@ synonym: "Zellweger spectrum disorders" RELATED [GARD:0011890] synonym: "Zellweger syndrome spectrum" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] synonym: "ZSD" RELATED ABBREVIATION [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, MONDO:cjm] xref: DOID:0080377 {source="MONDO:equivalentTo"} +xref: GARD:11890 {source="Orphanet:79189"} xref: MESH:C531857 {source="MONDO:equivalentTo"} xref: MESH:C536664 {source="Orphanet:79189/e", source="MONDO:equivalentTo", source="Orphanet:79189"} xref: NCIT:C146639 {source="MONDO:equivalentTo", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} @@ -369228,9 +385785,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019235 name: inborn disorder of phenylalanine and tyrosine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18964"} subset: ordo_group_of_disorders {source="Orphanet:79190"} synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [Orphanet:79190] synonym: "inborn disorder of phenylalanin or tyrosine metabolism" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18964 {source="Orphanet:79190"} xref: Orphanet:79190 {source="MONDO:equivalentTo"} xref: UMLS:CN227599 {source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="MONDO:0004736"} ! inborn disorder of amino acid metabolism @@ -369242,11 +385801,13 @@ id: MONDO:0019236 name: inborn disorder of purine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18965"} subset: ordo_group_of_disorders {source="Orphanet:79191"} synonym: "disorder of purine metabolism" RELATED [Orphanet:79191] synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn purine nucleobase metabolic process disorder" EXACT [] synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18965 {source="Orphanet:79191"} xref: MedDRA:10061476 {source="Orphanet:79191", source="Orphanet:79191/e"} xref: Orphanet:79191 {source="MONDO:equivalentTo"} xref: UMLS:C0268104 {source="Orphanet:79191", source="MONDO:relatedTo", source="Orphanet:79191/e"} @@ -369259,11 +385820,13 @@ id: MONDO:0019237 name: inborn disorder of pyridoxine metabolism def: "An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18966"} subset: ordo_group_of_disorders {source="Orphanet:79192"} synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192] synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyridoxine metabolic process disorder" EXACT [] synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18966 {source="Orphanet:79192"} xref: ICD10CM:G40.8 {source="Orphanet:79192/attributed", source="Orphanet:79192/ntbt", source="Orphanet:79192"} xref: Orphanet:79192 {source="MONDO:equivalentTo"} xref: UMLS:CN227600 {source="MONDO:equivalentTo"} @@ -369276,6 +385839,7 @@ id: MONDO:0019238 name: inborn disorder of pyrimidine metabolism def: "ANPM" [Orphanet:79193] subset: disease_grouping +subset: gard_rare {source="GARD:18967"} subset: ordo_group_of_disorders {source="Orphanet:79193"} synonym: "disorder of pyrimidine metabolism" RELATED [Orphanet:79193] synonym: "inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -369283,6 +385847,7 @@ synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT [] synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475] synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050832 {source="MONDO:equivalentTo"} +xref: GARD:18967 {source="Orphanet:79193"} xref: MedDRA:10070969 {source="Orphanet:79193", source="Orphanet:79193/e"} xref: Orphanet:79193 {source="MONDO:equivalentTo"} xref: UMLS:C0268127 {source="MONDO:relatedTo", source="Orphanet:79193", source="Orphanet:79193/e"} @@ -369295,12 +385860,14 @@ id: MONDO:0019239 name: inborn disorder of serine family metabolism def: "An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18968"} subset: ordo_group_of_disorders {source="Orphanet:79194"} synonym: "disorder of serine or glycine metabolism" RELATED [Orphanet:79194] synonym: "inborn disorder of serine or glycine metabolism" EXACT [Orphanet:79194] synonym: "inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn serine family amino acid metabolic process disorder" EXACT [] synonym: "rare inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18968 {source="Orphanet:79194"} xref: Orphanet:79194 {source="MONDO:equivalentTo"} xref: UMLS:CN227601 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:79194"} ! inborn disorder of amino acid and other organic acid metabolism @@ -369312,10 +385879,12 @@ id: MONDO:0019240 name: sterol biosynthesis disorder def: "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18969"} subset: ordo_group_of_disorders {source="Orphanet:79195"} synonym: "inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn sterol biosynthetic process disorder" EXACT [] synonym: "rare inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18969 {source="Orphanet:79195"} xref: Orphanet:79195 {source="MONDO:equivalentTo"} xref: UMLS:CN227602 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79195"} ! developmental anomaly of metabolic origin @@ -369328,9 +385897,11 @@ id: MONDO:0019241 name: inborn disorder of the gamma-glutamyl cycle comment: Editor note: request from GO subset: disease_grouping +subset: gard_rare {source="GARD:18970"} subset: ordo_group_of_disorders {source="Orphanet:79196"} synonym: "disorder of gamma-glutamyl cycle" RELATED [] synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196] +xref: GARD:18970 {source="Orphanet:79196"} xref: ICD10CM:E72.8 {source="Orphanet:79196/inclusion", source="Orphanet:79196", source="Orphanet:79196/ntbt"} xref: Orphanet:79196 {source="MONDO:equivalentTo"} xref: SCTID:9128006 {source="MONDO:equivalentTo"} @@ -369343,6 +385914,7 @@ name: inborn disorder of branched-chain amino acid metabolism def: "An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." [MONDO:patterns/inborn_metabolic] comment: Editor note: consider parent for non-inborn form subset: disease_grouping +subset: gard_rare {source="GARD:18971"} subset: ordo_group_of_disorders {source="Orphanet:79197"} synonym: "branched chain amino acid metabolism disorder" RELATED [] synonym: "disorder of branched chain amino acid metabolism" RELATED [] @@ -369351,6 +385923,7 @@ synonym: "inborn branched-chain amino acid metabolic process disorder" EXACT [] synonym: "inborn disorder of branched-chain amino acid metabolism" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18971 {source="Orphanet:79197"} xref: ICD10CM:E71.0 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} xref: ICD10CM:E71.1 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} xref: ICD10CM:E71.2 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} @@ -369368,11 +385941,13 @@ id: MONDO:0019243 name: inborn disorder of energy metabolism def: "An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18972"} subset: ordo_group_of_disorders {source="Orphanet:79200"} synonym: "disorder of energy metabolism" RELATED [Orphanet:79200] synonym: "inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn generation of precursor metabolites and energy disorder" EXACT [] synonym: "rare inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18972 {source="Orphanet:79200"} xref: Orphanet:79200 {source="MONDO:equivalentTo"} xref: UMLS:CN227604 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79200"} ! inborn errors of metabolism @@ -369390,6 +385965,7 @@ id: MONDO:0019245 name: lysosomal lipid storage disorder def: "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." [PMID:21502308, Wikipedia:Lipid_storage_disorder] subset: disease_grouping +subset: gard_rare {source="GARD:12511"} subset: ordo_group_of_disorders {source="Orphanet:79204"} synonym: "inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipid storage disorder" EXACT [DOID:9455] @@ -369403,6 +385979,7 @@ synonym: "lipoidoses" RELATED [] synonym: "lipoidosis" RELATED [DOID:9455] synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9455 {source="MONDO:equivalentTo"} +xref: GARD:12511 {source="Orphanet:79204"} xref: ICD10CM:E75.5 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt"} xref: ICD10CM:E75.6 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt", source="DOID:9455"} xref: ICD9:272.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9455"} @@ -369432,8 +386009,10 @@ relationship: excluded_subClassOf MONDO:0019255 {source="Orphanet:79204"} ! sphi id: MONDO:0019246 name: inborn disorder of lysosomal amino acid transport subset: disease_grouping +subset: gard_rare {source="GARD:18974"} subset: ordo_group_of_disorders {source="Orphanet:79207"} synonym: "disorder of lysosomal amino acid transport" RELATED [Orphanet:79207] +xref: GARD:18974 {source="Orphanet:79207"} xref: Orphanet:79207 {source="MONDO:equivalentTo"} xref: UMLS:CN227605 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:79207"} ! lysosomal storage disease @@ -369450,8 +386029,10 @@ id: MONDO:0019248 name: mucolipidosis def: "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." [NCIT:C61267] subset: disease_grouping +subset: gard_rare {source="GARD:18975"} subset: ordo_group_of_disorders {source="Orphanet:79212"} xref: DOID:0080488 {source="MONDO:equivalentTo"} +xref: GARD:18975 {source="Orphanet:79212"} xref: MESH:D009081 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212"} xref: NCIT:C61267 {source="MONDO:equivalentTo"} xref: Orphanet:79212 {source="MONDO:equivalentTo"} @@ -369466,12 +386047,13 @@ id: MONDO:0019249 name: mucopolysaccharidosis def: "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." [NCIT:C61259] subset: disease_grouping -subset: gard_rare {source="GARD:0007065"} +subset: gard_rare {source="GARD:7065"} subset: ordo_group_of_disorders {source="Orphanet:79213"} synonym: "MPS" RELATED ABBREVIATION [GARD:0007065] synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014] synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259] xref: DOID:12798 {source="MONDO:equivalentTo"} +xref: GARD:7065 {source="Orphanet:79213"} xref: ICD10CM:E76.0 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD10CM:E76.1 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD10CM:E76.2 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} @@ -369499,8 +386081,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7065/mucopol id: MONDO:0019250 name: inborn disorder of biogenic amine metabolism and transport subset: disease_grouping +subset: gard_rare {source="GARD:18976"} subset: ordo_group_of_disorders {source="Orphanet:79214"} synonym: "disorder of biogenic amine metabolism and transport" RELATED [Orphanet:79214] +xref: GARD:18976 {source="Orphanet:79214"} xref: Orphanet:79214 {source="MONDO:equivalentTo"} xref: UMLS:CN227606 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="Orphanet:79214"} ! inborn errors of metabolism @@ -369509,7 +386093,9 @@ is_a: MONDO:0019052 {source="Orphanet:79214"} ! inborn errors of metabolism id: MONDO:0019251 name: oligosaccharidosis subset: disease_grouping +subset: gard_rare {source="GARD:18977"} subset: ordo_group_of_disorders {source="Orphanet:79215"} +xref: GARD:18977 {source="Orphanet:79215"} xref: ICD10CM:E77.1 {source="Orphanet:79215", source="Orphanet:79215/attributed", source="Orphanet:79215/ntbt"} xref: Orphanet:79215 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin @@ -369520,7 +386106,9 @@ relationship: disease_has_basis_in_disruption_of GO:0009311 ! oligosaccharide me id: MONDO:0019252 name: obsolete other metabolic disease with skin involvement subset: disease_grouping +subset: gard_rare {source="GARD:18978"} subset: ordo_group_of_disorders {source="Orphanet:79217"} +xref: GARD:18978 {source="Orphanet:79217", source="MONDO:obsoleteEquivalent"} xref: Orphanet:79217 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205838 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -369531,7 +386119,9 @@ is_obsolete: true id: MONDO:0019253 name: metabolic disease involving other neurotransmitter deficiency subset: disease_grouping +subset: gard_rare {source="GARD:18979"} subset: ordo_group_of_disorders {source="Orphanet:79219"} +xref: GARD:18979 {source="Orphanet:79219"} xref: Orphanet:79219 {source="MONDO:equivalentTo"} xref: UMLS:CN205839 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport @@ -369540,12 +386130,14 @@ is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amin id: MONDO:0019254 name: inborn disorder of purine or pyrimidine metabolism subset: disease_grouping +subset: gard_rare {source="GARD:18980"} subset: ordo_group_of_disorders {source="Orphanet:79224"} synonym: "disorder of purine or pyrimidine metabolism" RELATED [Orphanet:79224] synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653] synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914] synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653] xref: DOID:653 {source="MONDO:equivalentTo"} +xref: GARD:18980 {source="Orphanet:79224"} xref: ICD10CM:E79.0 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"} xref: ICD10CM:E79.1 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"} xref: ICD10CM:E79.8 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="DOID:653", source="Orphanet:79224"} @@ -369570,11 +386162,12 @@ id: MONDO:0019255 name: sphingolipidosis def: "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." [NCIT:P378, PMID:21502308] subset: disease_grouping -subset: gard_rare {source="GARD:0007672"} +subset: gard_rare {source="GARD:7672"} subset: ordo_group_of_disorders {source="Orphanet:79225"} synonym: "sphingolipidoses" EXACT [DOID:1927] synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [DOID:1927] xref: DOID:1927 {source="MONDO:equivalentTo"} +xref: GARD:7672 {source="Orphanet:79225"} xref: ICD10CM:E75.0 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} xref: ICD10CM:E75.1 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} xref: ICD10CM:E75.2 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} @@ -369596,10 +386189,12 @@ id: MONDO:0019256 name: sterol metabolism disorder def: "An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process." [MONDO:patterns/inborn_metabolic] subset: disease_grouping +subset: gard_rare {source="GARD:18981"} subset: ordo_group_of_disorders {source="Orphanet:79226"} synonym: "inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn sterol metabolic process disorder" EXACT [] synonym: "rare inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +xref: GARD:18981 {source="Orphanet:79226"} xref: Orphanet:79226 {source="MONDO:equivalentTo"} xref: UMLS:CN227607 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:79226"} ! inherited lipid metabolism disorder @@ -369610,6 +386205,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0016125 ! sterol metaboli id: MONDO:0019257 name: hemochromatosis type 2 def: "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:79230] +subset: gard_rare {source="GARD:10092"} subset: ordo_disease {source="Orphanet:79230"} synonym: "hemochromatosis juvenile" RELATED [GARD:0010092] synonym: "HFE2" EXACT ABBREVIATION [DOID:0111034] @@ -369617,6 +386213,7 @@ synonym: "iron overload disease juvenile" RELATED [GARD:0010092] synonym: "JHH" EXACT ABBREVIATION [DOID:0111034] synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230] xref: DOID:0111034 {source="MONDO:equivalentTo"} +xref: GARD:10092 {source="Orphanet:79230"} xref: ICD10CM:E83.1 {source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/attributed", source="Orphanet:79230/ntbt"} xref: MESH:C537247 {source="MONDO:equivalentTo", source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/e"} xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"} @@ -369630,12 +386227,13 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare id: MONDO:0019258 name: mild phenylketonuria def: "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." [Orphanet:79253] -subset: gard_rare {source="GARD:0010324"} +subset: gard_rare {source="GARD:10324"} subset: ordo_clinical_subtype {source="Orphanet:79253"} synonym: "mild PKU" EXACT [Orphanet:79253] synonym: "mPKU" EXACT [Orphanet:79253] synonym: "variant phenylketonuria" EXACT [Orphanet:79253] synonym: "variant PKU" EXACT [Orphanet:79253] +xref: GARD:10324 {source="Orphanet:79253"} xref: ICD10CM:E70.1 {source="Orphanet:79253/attributed", source="Orphanet:79253/ntbt", source="Orphanet:79253"} xref: Orphanet:79253 {source="MONDO:equivalentTo"} xref: UMLS:C0543528 {source="GARD:0010324", source="MONDO:notFoundInDiseaseSubset"} @@ -369647,8 +386245,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10324/mild-p id: MONDO:0019259 name: classic phenylketonuria def: "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." [https://www.nichd.nih.gov/publications/pubs/pku/sub3, Orphanet:79254] +subset: gard_rare {source="GARD:18982"} subset: ordo_clinical_subtype {source="Orphanet:79254"} synonym: "classic PKU" EXACT [Orphanet:79254] +xref: GARD:18982 {source="Orphanet:79254"} xref: ICD10CM:E70.0 {source="Orphanet:79254/e", source="Orphanet:79254/specific", source="Orphanet:79254"} xref: MedDRA:10034875 {source="Orphanet:79254/e", source="Orphanet:79254"} xref: Orphanet:79254 {source="MONDO:equivalentTo"} @@ -369662,7 +386262,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019260 name: adult neuronal ceroid lipofuscinosis def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." [Orphanet:79262] -subset: gard_rare {source="GARD:0010973"} +subset: gard_rare {source="GARD:10973"} subset: ordo_disease {source="Orphanet:79262"} synonym: "adult NCL" EXACT [Orphanet:79262] synonym: "adult neuronal ceroid lipofuscinosis" EXACT CLINGEN_PREFERRED [] @@ -369672,6 +386272,7 @@ synonym: "Kuf's disease" RELATED [GARD:0010973] synonym: "Kufs disease" EXACT [Orphanet:79262] synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +xref: GARD:10973 {source="Orphanet:79262"} xref: ICD10CM:E75.4 {source="Orphanet:79262", source="Orphanet:79262/attributed", source="Orphanet:79262/ntbt"} xref: MESH:C537950 {source="Orphanet:79262", source="Orphanet:79262/e"} xref: Orphanet:79262 {source="MONDO:equivalentTo"} @@ -369691,12 +386292,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10973/adult- id: MONDO:0019261 name: infantile neuronal ceroid lipofuscinosis def: "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." [Orphanet:79263] +subset: gard_rare {source="GARD:9447"} subset: ordo_disease {source="Orphanet:79263"} synonym: "Hagberg-Santavuori disease" EXACT [Orphanet:79263] synonym: "INCL" EXACT ABBREVIATION [Orphanet:79263] synonym: "infantile NCL" EXACT [Orphanet:79263] synonym: "Santavuori disease" EXACT [Orphanet:79263] synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263] +xref: GARD:9447 {source="Orphanet:79263"} xref: ICD10CM:E75.4 {source="Orphanet:79263", source="Orphanet:79263/attributed", source="Orphanet:79263/ntbt"} xref: MESH:C537948 {source="Orphanet:79263", source="Orphanet:79263/e"} xref: Orphanet:79263 {source="MONDO:equivalentTo"} @@ -369715,6 +386318,7 @@ id: MONDO:0019262 name: juvenile neuronal ceroid lipofuscinosis def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." [Orphanet:79264] comment: Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs +subset: gard_rare {source="GARD:4938"} subset: ordo_disease {source="Orphanet:79264"} synonym: "batten disease" EXACT [MONDO:0000439, Orphanet:79264] synonym: "JNCL" EXACT ABBREVIATION [Orphanet:79264] @@ -369722,6 +386326,7 @@ synonym: "juvenile NCL" EXACT [Orphanet:79264] synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756] synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264] xref: DOID:0050756 {source="MONDO:equivalentObsolete"} +xref: GARD:4938 {source="Orphanet:79264"} xref: ICD10CM:E75.4 {source="Orphanet:79264/attributed", source="Orphanet:79264/ntbt", source="Orphanet:79264"} xref: MedDRA:10052073 {source="Orphanet:79264/e", source="Orphanet:79264"} xref: Orphanet:79264 {source="MONDO:equivalentTo"} @@ -369739,8 +386344,10 @@ relationship: has_characteristic HP:0003621 ! Juvenile onset id: MONDO:0019263 name: autosomal erythropoietic protoporphyria def: "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." [Orphanet:79278] +subset: gard_rare {source="GARD:4527"} subset: ordo_disease {source="Orphanet:79278"} synonym: "EPP" EXACT ABBREVIATION [Orphanet:79278] +xref: GARD:4527 {source="Orphanet:79278"} xref: ICD10CM:E80.0 {source="Orphanet:79278/ntbt", source="Orphanet:79278/inclusion", source="Orphanet:79278"} xref: MedDRA:10015289 {source="Orphanet:79278/e", source="Orphanet:79278"} xref: MESH:D046351 {source="Orphanet:79278/e", source="Orphanet:79278"} @@ -369752,10 +386359,12 @@ is_a: MONDO:0001676 {source="MONDO:cjm"} ! erythropoietic protoporphyria id: MONDO:0019264 name: alpha-N-acetylgalactosaminidase deficiency type 3 def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." [Orphanet:79281] +subset: gard_rare {source="GARD:3903"} subset: ordo_clinical_subtype {source="Orphanet:79281"} synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281] synonym: "Schindler disease type 3" EXACT [Orphanet:79281] xref: DOID:0112320 {source="MONDO:equivalentTo"} +xref: GARD:3903 {source="Orphanet:79281"} xref: ICD10CM:E77.1 {source="Orphanet:79281/attributed", source="Orphanet:79281/ntbt", source="Orphanet:79281"} xref: Orphanet:79281 {source="MONDO:equivalentTo"} xref: UMLS:C1836545 {source="Orphanet:79281", source="MONDO:equivalentTo"} @@ -369767,8 +386376,10 @@ id: MONDO:0019265 name: diazoxide-resistant focal hyperinsulinism def: "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." [Orphanet:79298] subset: disease_grouping +subset: gard_rare {source="GARD:18983"} subset: ordo_group_of_disorders {source="Orphanet:79298"} synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" EXACT [Orphanet:79298] +xref: GARD:18983 {source="Orphanet:79298"} xref: ICD10CM:E16.1 {source="Orphanet:79298", source="Orphanet:79298/attributed", source="Orphanet:79298/ntbt"} xref: Orphanet:79298 {source="MONDO:equivalentTo"} is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulinism @@ -369777,7 +386388,7 @@ is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulin id: MONDO:0019266 name: SAPHO syndrome def: "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." [Orphanet:793] -subset: gard_rare {source="GARD:0007606"} +subset: gard_rare {source="GARD:7606"} subset: ordo_disease {source="Orphanet:793"} synonym: "acquired hyperostosis syndrome" RELATED [GARD:0007606] synonym: "PPHS" EXACT ABBREVIATION [NCIT:C119049] @@ -369789,6 +386400,7 @@ synonym: "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome" EXAC synonym: "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" EXACT [Orphanet:793] xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"} xref: EFO:1001164 {source="MONDO:equivalentTo"} +xref: GARD:7606 {source="Orphanet:793"} xref: ICD10CM:M86.3 {source="Orphanet:793/ntbt", source="Orphanet:793"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051316 {source="Orphanet:793/e", source="EFO:1001164", source="Orphanet:793"} @@ -369807,9 +386419,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7606/sapho-s id: MONDO:0019267 name: vitamin B12-unresponsive methylmalonic acidemia type mut- def: "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:79312] +subset: gard_rare {source="GARD:16714"} subset: ordo_clinical_subtype {source="Orphanet:79312"} synonym: "partial deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:79312] synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut-" EXACT [Orphanet:79312] +xref: GARD:16714 {source="Orphanet:79312"} xref: ICD10CM:E71.1 {source="Orphanet:79312/attributed", source="Orphanet:79312/ntbt", source="Orphanet:79312"} xref: Orphanet:79312 {source="MONDO:equivalentTo"} xref: SCTID:237946002 {source="MONDO:equivalentTo"} @@ -369824,9 +386438,11 @@ id: MONDO:0019268 name: epidermal disease def: "A skin disease that involves the epidermis." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:18984"} subset: ordo_group_of_disorders {source="Orphanet:79353"} synonym: "epidermal disease" EXACT [Orphanet:79353] synonym: "rare epidermal disease" EXACT [Orphanet:79353] +xref: GARD:18984 {source="Orphanet:79353"} xref: Orphanet:79353 {source="MONDO:equivalentTo"} xref: UMLS:CN205920 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="Orphanet:79353"} ! skin disorder @@ -369840,6 +386456,7 @@ name: ichthyosis def: "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." [PMID:22739337] comment: Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. {xref="PMID:23792051"} subset: disease_grouping +subset: gard_rare {source="GARD:18985"} subset: ordo_group_of_disorders {source="Orphanet:79354"} synonym: "disorder of cornification" EXACT [PMID:20643494] synonym: "DOC" EXACT ABBREVIATION [PMID:20643494] @@ -369850,6 +386467,7 @@ synonym: "ichthyosis" EXACT [MONDO:ambiguous] synonym: "ichthyosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic ichthyosis" RELATED [DOID:1697] xref: DOID:1697 {source="MONDO:equivalentTo"} +xref: GARD:18985 {source="Orphanet:79354"} xref: HP:0008064 {source="MONDO:otherHierarchy"} xref: MedDRA:10021198 {source="Orphanet:79354/e", source="Orphanet:79354"} xref: MESH:D007057 {source="Orphanet:79354/e", source="MONDO:equivalentTo", source="DOID:1697", source="Orphanet:79354"} @@ -369867,7 +386485,9 @@ id: MONDO:0019270 name: erythrokeratoderma def: "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.org/rare-diseases/https-rarediseases-org-rare-diseases-erythrokeratoderma/] subset: disease_grouping +subset: gard_rare {source="GARD:18986"} subset: ordo_group_of_disorders {source="Orphanet:79355"} +xref: GARD:18986 {source="Orphanet:79355"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10015280 {source="Orphanet:79355/e", source="Orphanet:79355"} xref: Orphanet:79355 {source="MONDO:equivalentTo"} @@ -369878,6 +386498,8 @@ is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease [Term] id: MONDO:0019271 name: obsolete acrokeratoderma +subset: gard_rare {source="GARD:18987"} +xref: GARD:18987 {source="MONDO:obsoleteEquivalent", source="Orphanet:79356"} xref: ICD10CM:Q82.8 {source="Orphanet:79356/ntbt", source="Orphanet:79356"} xref: Orphanet:79356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369890,11 +386512,13 @@ id: MONDO:0019272 name: hereditary palmoplantar keratoderma def: "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:18988"} subset: ordo_group_of_disorders {source="Orphanet:79357"} synonym: "hereditary keratosis palmoplantaris" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar hyperkeratosis" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar keratosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary PPK" EXACT [Orphanet:79357] +xref: GARD:18988 {source="Orphanet:79357"} xref: ICD10CM:Q82.8 {source="Orphanet:79357/ntbt", source="Orphanet:79357/inclusion", source="Orphanet:79357"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79357 {source="MONDO:equivalentTo"} @@ -369918,7 +386542,9 @@ replaced_by: MONDO:0006602 id: MONDO:0019274 name: obsolete other epidermal disorder subset: disease_grouping +subset: gard_rare {source="GARD:18990"} subset: ordo_group_of_disorders {source="Orphanet:79359"} +xref: GARD:18990 {source="Orphanet:79359", source="MONDO:obsoleteEquivalent"} xref: Orphanet:79359 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227609 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -369929,7 +386555,9 @@ is_obsolete: true id: MONDO:0019275 name: obsolete other genetic epidermal disease subset: disease_grouping +subset: gard_rare {source="GARD:18991"} subset: ordo_group_of_disorders {source="Orphanet:79360"} +xref: GARD:18991 {source="MONDO:obsoleteEquivalent", source="Orphanet:79360"} xref: Orphanet:79360 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205922 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -369941,9 +386569,11 @@ id: MONDO:0019276 name: inherited epidermolysis bullosa def: "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." [Orphanet:79361] subset: disease_grouping +subset: gard_rare {source="GARD:18992"} subset: ordo_group_of_disorders {source="Orphanet:79361"} synonym: "epidermolysis bullosa hereditaria" EXACT [Orphanet:79361] synonym: "hereditary epidermolysis bullosa" EXACT [MONDO:patterns/hereditary, Orphanet:79361] +xref: GARD:18992 {source="Orphanet:79361"} xref: ICD10CM:Q81.0 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} xref: ICD10CM:Q81.1 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} xref: ICD10CM:Q81.2 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} @@ -369964,6 +386594,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare [Term] id: MONDO:0019277 name: obsolete epidermal appendage anomaly +subset: gard_rare {source="GARD:18993"} +xref: GARD:18993 {source="MONDO:obsoleteEquivalent", source="Orphanet:79362"} xref: Orphanet:79362 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -369974,7 +386606,9 @@ is_obsolete: true id: MONDO:0019278 name: hair anomaly subset: disease_grouping +subset: gard_rare {source="GARD:18994"} subset: ordo_group_of_disorders {source="Orphanet:79363"} +xref: GARD:18994 {source="Orphanet:79363"} xref: Orphanet:79363 {source="MONDO:equivalentTo"} xref: UMLS:C0265991 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79363"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0002-4142-7153"} ! integumentary system disorder @@ -369991,10 +386625,12 @@ id: MONDO:0019280 name: hypertrichosis def: "Excessive hair growth anywhere on the body." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:18996"} subset: ordo_group_of_disorders {source="Orphanet:79365"} synonym: "hypertrichosis" EXACT [MONDO:ambiguous] synonym: "hypertrichosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:420 {source="MONDO:equivalentTo"} +xref: GARD:18996 {source="Orphanet:79365"} xref: HP:0000998 {source="MONDO:otherHierarchy"} xref: ICD10CM:L68 {source="DOID:420"} xref: ICD10CM:L68.3 {source="DOID:420"} @@ -370016,7 +386652,9 @@ property_value: IAO:0000589 "hypertrichosis (disease)" xsd:string [Term] id: MONDO:0019281 name: obsolete isolated genetic hair shaft abnormality +subset: gard_rare {source="GARD:18997"} synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366] +xref: GARD:18997 {source="MONDO:obsoleteEquivalent", source="Orphanet:79366"} xref: Orphanet:79366 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370026,7 +386664,9 @@ is_obsolete: true [Term] id: MONDO:0019282 name: obsolete syndromic hair shaft abnormality +subset: gard_rare {source="GARD:18998"} subset: ordo_group_of_disorders {source="Orphanet:79367"} +xref: GARD:18998 {source="MONDO:obsoleteEquivalent", source="Orphanet:79367"} xref: Orphanet:79367 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227611 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingMorpho"} @@ -370039,9 +386679,11 @@ id: MONDO:0019283 name: nail anomaly def: "A epidermal appendage anomaly that involves the nail." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:18999"} subset: ordo_group_of_disorders {source="Orphanet:79368"} synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern] synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location] +xref: GARD:18999 {source="Orphanet:79368"} xref: MedDRA:10028684 {source="Orphanet:79368/e", source="Orphanet:79368"} xref: Orphanet:79368 {source="MONDO:equivalentTo"} xref: UMLS:C0265997 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79368"} @@ -370054,11 +386696,13 @@ id: MONDO:0019284 name: inherited isolated nail anomaly def: "A nail anomaly that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping +subset: gard_rare {source="GARD:19000"} subset: ordo_group_of_disorders {source="Orphanet:79369"} synonym: "isolated nail anomaly" RELATED [Orphanet:79369] synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073] synonym: "nonsyndromic nail anomaly" EXACT [MONDO:patterns/isolated] xref: DOID:0080683 {source="MONDO:equivalentTo"} +xref: GARD:19000 {source="Orphanet:79369"} xref: OMIMPS:161050 {source="MONDO:equivalentTo"} xref: Orphanet:79369 {source="MONDO:equivalentTo"} intersection_of: MONDO:0002884 ! nail disorder @@ -370071,9 +386715,11 @@ id: MONDO:0019285 name: obsolete syndromic nail anomaly def: "OBSOLETE. A nail anomaly that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: disease_grouping +subset: gard_rare {source="GARD:19001"} subset: ordo_group_of_disorders {source="Orphanet:79370"} synonym: "syndrome associated with nail anomaly" EXACT [MONDO:patterns/syndromic] synonym: "syndromic nail anomaly" EXACT [MONDO:patterns/syndromic] +xref: GARD:19001 {source="MONDO:obsoleteEquivalent", source="Orphanet:79370"} xref: Orphanet:79370 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227613 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingPhenotype"} @@ -370085,8 +386731,10 @@ consider: MONDO:0019283 id: MONDO:0019286 name: obsolete sebaceous gland anomaly def: "OBSOLETE. A epidermal appendage anomaly that involves the sebaceous gland." [MONDO:patterns/location] +subset: gard_rare {source="GARD:19002"} synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern] synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location] +xref: GARD:19002 {source="MONDO:obsoleteEquivalent", source="Orphanet:79372"} xref: Orphanet:79372 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370098,12 +386746,13 @@ id: MONDO:0019287 name: ectodermal dysplasia syndrome def: "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." [Orphanet:79373] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:6317"} subset: ordo_group_of_disorders {source="Orphanet:79373"} synonym: "congenital ectodermal defect" EXACT [DOID:2121] synonym: "ectodermal dysplasia" EXACT [Orphanet:79373] synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100] xref: DOID:2121 {source="MONDO:equivalentTo"} +xref: GARD:6317 {source="Orphanet:79373"} xref: ICD9:757.31 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010452 {source="Orphanet:79373", source="Orphanet:79373/e"} xref: MESH:D004476 {source="MONDO:equivalentTo", source="Orphanet:79373", source="Orphanet:79373/e"} @@ -370122,6 +386771,7 @@ id: MONDO:0019288 name: skin pigmentation disorder def: "A pigmentation disease that involves the zone of skin." [MONDO:design_pattern] subset: disease_grouping +subset: gard_rare {source="GARD:19003"} subset: ordo_group_of_disorders {source="Orphanet:79374"} synonym: "pigmentation anomaly of the skin" EXACT [] synonym: "pigmentation disease" RELATED [DOID:10123] @@ -370129,6 +386779,7 @@ synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern] synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10123 {source="MONDO:equivalentTo", source="EFO:1000755"} xref: EFO:1000755 {source="MONDO:equivalentTo"} +xref: GARD:19003 {source="Orphanet:79374"} xref: ICD9:709.09 {source="DOID:10123"} xref: MESH:D010859 {source="MONDO:equivalentTo"} xref: NCIT:C34557 {source="MONDO:equivalentTo"} @@ -370140,8 +386791,10 @@ is_a: MONDO:0005093 {source="DOID:10123", source="EFO:1000755", source="MESH:D01 id: MONDO:0019289 name: hyperpigmentation of the skin subset: disease_grouping +subset: gard_rare {source="GARD:19004"} subset: ordo_group_of_disorders {source="Orphanet:79375"} xref: EFO:0009047 {source="MONDO:equivalentTo"} +xref: GARD:19004 {source="Orphanet:79375"} xref: HP:0000953 {source="MONDO:otherHierarchy"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:183466 {source="MONDO:mondoIsBroaderThanSource"} @@ -370157,11 +386810,13 @@ id: MONDO:0019290 name: hypopigmentation of the skin def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496] subset: disease_grouping +subset: gard_rare {source="GARD:19005"} subset: ordo_group_of_disorders {source="Orphanet:79376"} synonym: "hypomelanoses" RELATED [MESH:D017496] synonym: "hypomelanosis" RELATED [MESH:D017496] synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous] synonym: "hypopigmentation of the skin (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19005 {source="Orphanet:79376"} xref: HP:0001010 {source="MONDO:otherHierarchy"} xref: MedDRA:10040868 {source="Orphanet:79376/e", source="Orphanet:79376"} xref: MESH:D017496 {source="MONDO:equivalentTo"} @@ -370177,8 +386832,10 @@ property_value: IAO:0000589 "hypopigmentation of the skin (disease)" xsd:string id: MONDO:0019291 name: obsolete rare genetic dermis disorder subset: disease_grouping +subset: gard_rare {source="GARD:19006"} subset: ordo_group_of_disorders {source="Orphanet:79377"} synonym: "dermis disorder" RELATED [Orphanet:79377] +xref: GARD:19006 {source="MONDO:obsoleteEquivalent", source="Orphanet:79377"} xref: Orphanet:79377 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227615 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370188,6 +386845,8 @@ replaced_by: MONDO:0021154 [Term] id: MONDO:0019292 name: obsolete dermis elastic tissue disorder +subset: gard_rare {source="GARD:19007"} +xref: GARD:19007 {source="MONDO:obsoleteEquivalent", source="Orphanet:79378"} xref: Orphanet:228215 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79378 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227616 {source="MONDO:obsoleteEquivalent"} @@ -370202,6 +386861,7 @@ id: MONDO:0019293 name: skin vascular disease def: "A disease that involves the superficial vasculature." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:19008"} subset: ordo_group_of_disorders {source="Orphanet:79379"} synonym: "disorder of blood vessels affecting skin" RELATED [] synonym: "skin vascular disorder" EXACT [NCIT:C35254] @@ -370212,6 +386872,7 @@ synonym: "vascular disorders of skin" RELATED [] synonym: "vascular skin disease" EXACT [MONDO:0004814] synonym: "vasculature skin disease" EXACT [MONDO:patterns/location] xref: DOID:9540 {source="MONDO:equivalentTo"} +xref: GARD:19008 {source="Orphanet:79379"} xref: ICD9:709.1 {source="DOID:9540"} xref: MedDRA:10062171 {source="Orphanet:79379/e", source="Orphanet:79379"} xref: MESH:D017445 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"} @@ -370234,7 +386895,9 @@ id: MONDO:0019294 name: mixed dermis disorder comment: Editor note: check if genetic subset: disease_grouping +subset: gard_rare {source="GARD:19009"} subset: ordo_group_of_disorders {source="Orphanet:79380"} +xref: GARD:19009 {source="Orphanet:79380"} xref: Orphanet:183481 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79380 {source="MONDO:equivalentTo"} xref: UMLS:CN227617 {source="MONDO:equivalentTo"} @@ -370252,6 +386915,7 @@ id: MONDO:0019296 name: subcutaneous tissue disorder def: "A disease involving the superficial fascia." [MONDO:patterns/location_top] subset: disease_grouping +subset: gard_rare {source="GARD:19011"} subset: ordo_group_of_disorders {source="Orphanet:79382"} subset: rare_grouping synonym: "disease of superficial fascia" EXACT [MONDO:patterns/location_top] @@ -370259,6 +386923,7 @@ synonym: "disease or disorder of superficial fascia" EXACT [] synonym: "disorder of superficial fascia" EXACT [MONDO:patterns/location_top] synonym: "superficial fascia disease" EXACT [MONDO:patterns/location] synonym: "superficial fascia disease or disorder" EXACT [MONDO:patterns/location] +xref: GARD:19011 {source="Orphanet:79382"} xref: ICD10CM:L00-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:L55-L59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:L80-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -370300,10 +386965,12 @@ id: MONDO:0019298 name: obsolete rare urticaria def: "OBSOLETE. Rare urticaria." [] subset: disease_grouping +subset: gard_rare {source="GARD:19012"} subset: ordo_group_of_disorders {source="Orphanet:79384"} synonym: "rare hives" EXACT [MONDO:patterns/rare] synonym: "rare urticaria" EXACT [MONDO:patterns/rare] synonym: "rare urticaria (disease)" EXACT [MONDO:patterns/rare] +xref: GARD:19012 {source="MONDO:obsoleteEquivalent", source="Orphanet:79384"} xref: Orphanet:79384 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0042109 {source="Orphanet:79384"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370314,7 +386981,9 @@ replaced_by: MONDO:0005492 id: MONDO:0019299 name: obsolete unclassified genetic skin disorder subset: disease_grouping +subset: gard_rare {source="GARD:19013"} subset: ordo_group_of_disorders {source="Orphanet:79385"} +xref: GARD:19013 {source="MONDO:obsoleteEquivalent", source="Orphanet:79385"} xref: Orphanet:79385 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -370326,7 +386995,9 @@ consider: MONDO:0005093 id: MONDO:0019300 name: obsolete rare skin tumor or hamartoma subset: disease_grouping +subset: gard_rare {source="GARD:19014"} subset: ordo_group_of_disorders {source="Orphanet:79386"} +xref: GARD:19014 {source="MONDO:obsoleteEquivalent", source="Orphanet:79386"} xref: Orphanet:79386 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205934 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} is_obsolete: true @@ -370335,7 +387006,9 @@ is_obsolete: true id: MONDO:0019301 name: obsolete metabolic disease with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease +subset: gard_rare {source="GARD:19015"} subset: ordo_group_of_disorders {source="Orphanet:79387"} +xref: GARD:19015 {source="MONDO:obsoleteEquivalent", source="Orphanet:79387"} xref: Orphanet:79387 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205935 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -370358,9 +387031,11 @@ id: MONDO:0019303 name: premature aging syndrome def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588] subset: disease_grouping +subset: gard_rare {source="GARD:19017"} subset: ordo_group_of_disorders {source="Orphanet:79389"} synonym: "premature ageing" RELATED OMO:0003005 [] synonym: "premature aging" RELATED [Orphanet:79389] +xref: GARD:19017 {source="Orphanet:79389"} xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"} xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", source="Orphanet:79389"} xref: Orphanet:79389 {source="MONDO:equivalentTo"} @@ -370375,8 +387050,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare id: MONDO:0019304 name: obsolete rare photodermatosis subset: disease_grouping +subset: gard_rare {source="GARD:19018"} subset: ordo_group_of_disorders {source="Orphanet:79390"} synonym: "rare skin photosensitivity" EXACT [Orphanet:79390] +xref: GARD:19018 {source="MONDO:obsoleteEquivalent", source="Orphanet:79390"} xref: Orphanet:79390 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0920193 {source="MONDO:obsoleteEquivalent", source="Orphanet:79390"} property_value: IAO:0000231 OMO:0001000 @@ -370388,7 +387065,9 @@ is_obsolete: true id: MONDO:0019305 name: obsolete immune deficiency with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immune system disease' +subset: gard_rare {source="GARD:19019"} subset: ordo_group_of_disorders {source="Orphanet:79391"} +xref: GARD:19019 {source="MONDO:obsoleteEquivalent", source="Orphanet:79391"} xref: Orphanet:79391 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370399,6 +387078,7 @@ consider: MONDO:0005046 id: MONDO:0019306 name: congenital non-bullous ichthyosiform erythroderma def: "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." [Orphanet:79394] +subset: gard_rare {source="GARD:9736"} subset: ordo_disease {source="Orphanet:79394"} synonym: "alligator skin" EXACT [DOID:1699] synonym: "CIE" EXACT ABBREVIATION [Orphanet:79394] @@ -370412,6 +387092,7 @@ synonym: "lamellar ichthyosis" RELATED [DOID:1699] synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:79394] synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699] xref: DOID:1699 {source="MONDO:equivalentObsolete"} +xref: GARD:9736 {source="Orphanet:79394"} xref: HP:0007431 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q80.2 {source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/attributed", source="Orphanet:79394/ntbt"} xref: MESH:D016113 {source="DOID:1699"} @@ -370440,6 +387121,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019307 name: generalized junctional epidermolysis bullosa non-Herlitz type def: "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." [Orphanet:79402] +subset: gard_rare {source="GARD:12922"} subset: ordo_clinical_subtype {source="Orphanet:79402"} synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738, Orphanet:79402] synonym: "generalised atrophic benign epidermolysis bullosa" EXACT OMO:0003005 [] @@ -370456,6 +387138,7 @@ synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, synonym: "junctional epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402] xref: DOID:0060738 {source="MONDO:equivalentTo"} +xref: GARD:12922 {source="Orphanet:79402"} xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="Orphanet:79402/attributed", source="Orphanet:79402/ntbt", source="DOID:0060738"} xref: Orphanet:79402 {source="MONDO:equivalentTo", source="DOID:0060738"} xref: Orphanet:89840 {source="DOID:0060738"} @@ -370467,10 +387150,12 @@ property_value: confidence "0.7" xsd:double id: MONDO:0019308 name: junctional epidermolysis bullosa inversa def: "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." [Orphanet:79405] +subset: gard_rare {source="GARD:2143"} subset: ordo_disease {source="Orphanet:79405"} synonym: "EBJ-I" EXACT [Orphanet:79405] synonym: "inverse JEB" EXACT [Orphanet:79405] synonym: "JEB-I" EXACT [Orphanet:79405] +xref: GARD:2143 {source="Orphanet:79405"} xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="Orphanet:79405/attributed", source="Orphanet:79405/ntbt"} xref: Orphanet:79405 {source="MONDO:equivalentTo"} xref: UMLS:C2673609 {source="Orphanet:79405", source="MONDO:equivalentTo"} @@ -370482,10 +387167,11 @@ property_value: confidence "0.7" xsd:double id: MONDO:0019309 name: late-onset junctional epidermolysis bullosa def: "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." [Orphanet:79406] -subset: gard_rare {source="GARD:0012921"} +subset: gard_rare {source="GARD:12921"} subset: ordo_disease {source="Orphanet:79406"} synonym: "EB progressive" EXACT [Orphanet:79406] synonym: "JEB-lo" EXACT [Orphanet:79406] +xref: GARD:12921 {source="Orphanet:79406"} xref: ICD10CM:Q81.8 {source="Orphanet:79406/attributed", source="Orphanet:79406/ntbt", source="Orphanet:79406"} xref: Orphanet:79406 {source="MONDO:equivalentTo"} xref: SCTID:719432000 {source="MONDO:equivalentTo"} @@ -370498,11 +387184,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12921/late-o id: MONDO:0019310 name: recessive dystrophic epidermolysis bullosa inversa def: "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." [Orphanet:79409] +subset: gard_rare {source="GARD:16720"} subset: ordo_disease {source="Orphanet:79409"} synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409] synonym: "inverse RDEB" EXACT [Orphanet:79409] synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409] synonym: "RDEB-I" EXACT [Orphanet:79409] +xref: GARD:16720 {source="Orphanet:79409"} xref: ICD10CM:Q81.2 {source="Orphanet:79409", source="Orphanet:79409/attributed", source="Orphanet:79409/ntbt"} xref: Orphanet:79409 {source="MONDO:equivalentTo"} xref: UMLS:CN205951 {source="MONDO:equivalentTo"} @@ -370513,8 +387201,10 @@ property_value: confidence "4.999999999999997" xsd:double id: MONDO:0019311 name: wooly hair nevus def: "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." [Orphanet:79414] +subset: gard_rare {source="GARD:13025"} subset: ordo_disease {source="Orphanet:79414"} synonym: "wooly hair nevus" EXACT [Orphanet:79414] +xref: GARD:13025 {source="Orphanet:79414"} xref: ICD10CM:D23.4 {source="Orphanet:79414", source="Orphanet:79414/attributed", source="Orphanet:79414/ntbt"} xref: Orphanet:79414 {source="MONDO:equivalentTo"} xref: SCTID:239124001 {source="MONDO:equivalentTo"} @@ -370526,11 +387216,13 @@ property_value: confidence "6.333333333333333" xsd:double id: MONDO:0019312 name: Hermansky-Pudlak syndrome def: "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." [Orphanet:79430] +subset: gard_rare {source="GARD:6643"} subset: ordo_disease {source="Orphanet:79430"} synonym: "Hermansky Pudlak syndrome" RELATED [GARD:0006643] synonym: "HPS" EXACT ABBREVIATION [Orphanet:79430] synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [DOID:3753] xref: DOID:3753 {source="MONDO:equivalentTo"} +xref: GARD:6643 {source="Orphanet:79430"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"} xref: ICD10CM:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -370585,10 +387277,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019314 name: cutaneous mastocytoma def: "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79455] +subset: gard_rare {source="GARD:12687"} subset: ordo_disease {source="Orphanet:79455"} synonym: "cutaneous local mastocytoma" EXACT [Orphanet:79455] synonym: "multiple mastocytoma" EXACT [Orphanet:79455] synonym: "solitary mastocytoma" EXACT [Orphanet:79455] +xref: GARD:12687 {source="Orphanet:79455"} xref: ICD10CM:Q82.2 {source="Orphanet:79455/ntbt", source="Orphanet:79455"} xref: MESH:D054705 {source="MONDO:relatedTo", source="Orphanet:79455/e", source="Orphanet:79455"} xref: Orphanet:79455 {source="MONDO:equivalentTo"} @@ -370599,11 +387293,13 @@ is_a: MONDO:0019023 {source="Orphanet:79455"} ! cutaneous mastocytosis id: MONDO:0019315 name: diffuse cutaneous mastocytosis def: "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." [Orphanet:79456] +subset: gard_rare {source="GARD:12686"} subset: ordo_disease {source="Orphanet:79456"} synonym: "DCM" BROAD ABBREVIATION [Orphanet:79456] synonym: "diffuse cutaneous maculopapulous mastocytosis" EXACT [Orphanet:79456] synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT:C3218] xref: DOID:3665 {source="MONDO:equivalentTo"} +xref: GARD:12686 {source="Orphanet:79456"} xref: ICD10CM:Q82.2 {source="Orphanet:79456/ntbt", source="Orphanet:79456"} xref: ICDO:9740/1 {source="NCIT:C3218"} xref: MedDRA:10012812 {source="Orphanet:79456/e", source="Orphanet:79456"} @@ -370618,6 +387314,7 @@ is_a: MONDO:0019023 {source="DOID:3665", source="NCIT:C3218/inferred", source="O id: MONDO:0019316 name: maculopapular cutaneous mastocytosis def: "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79457] +subset: gard_rare {source="GARD:16723"} subset: ordo_disease {source="Orphanet:79457"} synonym: "Paucicellular mastocytosis" RELATED [GARD:0013079] synonym: "telangiectasia macularis eruptive perstans" RELATED [GARD:0013079] @@ -370626,6 +387323,7 @@ synonym: "UP/MPCM" EXACT [DOID:12309, NCIT:C3433] synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457] synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433] xref: DOID:12309 {source="MONDO:equivalentTo"} +xref: GARD:16723 {source="Orphanet:79457"} xref: ICD10CM:Q82.2 {source="Orphanet:79457", source="Orphanet:79457/ntbt", source="DOID:12309"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9740/1 {source="NCIT:C3433"} @@ -370654,10 +387352,12 @@ property_value: confidence "0.19658119658119655" xsd:double [Term] id: MONDO:0019318 name: inflammatory linear verrucous epidermal nevus +subset: gard_rare {source="GARD:5484"} subset: ordo_clinical_subtype {source="Orphanet:79466"} synonym: "ILVEN" EXACT ABBREVIATION [Orphanet:79466] synonym: "inflammatory linear verrucous epidermal naevus" RELATED [GARD:0005484] synonym: "linear verrucose epidermal nevus" RELATED [GARD:0005484] +xref: GARD:5484 {source="Orphanet:79466"} xref: ICD10CM:Q82.5 {source="Orphanet:79466/ntbt", source="Orphanet:79466"} xref: Orphanet:79466 {source="MONDO:equivalentTo"} xref: SCTID:399995006 {source="MONDO:equivalentTo"} @@ -370668,8 +387368,10 @@ is_a: MONDO:0016831 {source="Orphanet:79466"} ! linear verrucous nevus syndrome id: MONDO:0019319 name: verrucous nevus def: "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." [NCIT:C4674] +subset: gard_rare {source="GARD:19020"} subset: ordo_clinical_subtype {source="Orphanet:79467"} synonym: "verrucous Epidermal Nevus" EXACT [NCIT:C4674] +xref: GARD:19020 {source="Orphanet:79467"} xref: ICD10CM:Q82.5 {source="Orphanet:79467/ntbt", source="Orphanet:79467"} xref: NCIT:C4674 {source="MONDO:equivalentTo"} xref: Orphanet:79467 {source="MONDO:equivalentTo"} @@ -370680,9 +387382,10 @@ is_a: MONDO:0016831 {source="Orphanet:79467"} ! linear verrucous nevus syndrome [Term] id: MONDO:0019320 name: acanthokeratolytic verrucous nevus -subset: gard_rare {source="GARD:0005485"} +subset: gard_rare {source="GARD:5485"} subset: ordo_clinical_subtype {source="Orphanet:79468"} synonym: "verrucous nevus acanthokeratolytic" RELATED [GARD:0005485] +xref: GARD:5485 {source="Orphanet:79468"} xref: ICD10CM:Q82.5 {source="Orphanet:79468", source="Orphanet:79468/ntbt"} xref: Orphanet:79468 {source="MONDO:equivalentTo"} xref: UMLS:CN205975 {source="MONDO:equivalentTo"} @@ -370693,9 +387396,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5485/verruco id: MONDO:0019321 name: atypical Werner syndrome def: "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." [Orphanet:79474] -subset: gard_rare {source="GARD:0011910"} +subset: gard_rare {source="GARD:11910"} subset: ordo_disease {source="Orphanet:79474"} synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474] +xref: GARD:11910 {source="Orphanet:79474"} xref: ICD10CM:E34.8 {source="Orphanet:79474", source="Orphanet:79474/attributed", source="Orphanet:79474/ntbt"} xref: Orphanet:79474 {source="MONDO:equivalentTo"} xref: SCTID:715633008 {source="MONDO:equivalentTo"} @@ -370711,8 +387415,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11910/atypic [Term] id: MONDO:0019322 name: pemphigus vegetans +subset: gard_rare {source="GARD:19021"} subset: ordo_clinical_subtype {source="Orphanet:79479"} xref: EFO:0008613 {source="MONDO:equivalentTo"} +xref: GARD:19021 {source="Orphanet:79479"} xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} xref: MedDRA:10057053 {source="Orphanet:79479", source="Orphanet:79479/e"} xref: Orphanet:79479 {source="MONDO:equivalentTo"} @@ -370726,10 +387432,12 @@ is_a: MONDO:0008219 {source="EFO:0008613", source="Orphanet:79479"} ! pemphigus id: MONDO:0019323 name: pemphigus erythematosus def: "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [Orphanet:79480] +subset: gard_rare {source="GARD:19022"} subset: ordo_disease {source="Orphanet:79480"} synonym: "seborrheic pemphigus" EXACT [Orphanet:79480] synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480] xref: EFO:0008603 {source="MONDO:equivalentTo"} +xref: GARD:19022 {source="Orphanet:79480"} xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"} xref: MedDRA:10058917 {source="Orphanet:79480", source="Orphanet:79480/e"} xref: Orphanet:79480 {source="MONDO:equivalentTo"} @@ -370747,11 +387455,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019324 name: pemphigus foliaceus def: "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." [Orphanet:79481] -subset: gard_rare {source="GARD:0007354"} +subset: gard_rare {source="GARD:7354"} subset: ordo_disease {source="Orphanet:79481"} synonym: "PF" RELATED ABBREVIATION [GARD:0007354] xref: DOID:0080850 {source="MONDO:equivalentTo"} xref: EFO:0008601 {source="MONDO:equivalentTo"} +xref: GARD:7354 {source="Orphanet:79481"} xref: HGNC:3050 {source="GARD:0007354"} xref: ICD10CM:L10.2 {source="Orphanet:79481", source="Orphanet:79481/ntbt"} xref: MedDRA:10057069 {source="Orphanet:79481", source="Orphanet:79481/e"} @@ -370770,8 +387479,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7354/pemphig [Term] id: MONDO:0019325 name: phakomatosis cesioflammea +subset: gard_rare {source="GARD:19023"} subset: ordo_clinical_subtype {source="Orphanet:79483"} synonym: "phakomatosis pigmentovascularis type 2" EXACT [Orphanet:79483] +xref: GARD:19023 {source="Orphanet:79483"} xref: ICD10CM:Q85.8 {source="Orphanet:79483", source="Orphanet:79483/attributed", source="Orphanet:79483/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79483 {source="MONDO:equivalentTo"} @@ -370782,10 +387493,12 @@ is_a: MONDO:0017318 {source="Orphanet:79483"} ! phakomatosis pigmentovascularis [Term] id: MONDO:0019326 name: phakomatosis cesiomarmorata +subset: gard_rare {source="GARD:19024"} subset: ordo_clinical_subtype {source="Orphanet:79484"} synonym: "phakomatosis caesiomarmorata" EXACT [] synonym: "phakomatosis cesiomarmorata" EXACT [] synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484] +xref: GARD:19024 {source="Orphanet:79484"} xref: ICD10CM:Q85.8 {source="Orphanet:79484/attributed", source="Orphanet:79484/ntbt", source="Orphanet:79484"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79484 {source="MONDO:equivalentTo"} @@ -370796,8 +387509,10 @@ is_a: MONDO:0017318 {source="Orphanet:79484"} ! phakomatosis pigmentovascularis [Term] id: MONDO:0019327 name: phakomatosis spilorosea +subset: gard_rare {source="GARD:19025"} subset: ordo_clinical_subtype {source="Orphanet:79485"} synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485] +xref: GARD:19025 {source="Orphanet:79485"} xref: ICD10CM:Q85.8 {source="Orphanet:79485", source="Orphanet:79485/attributed", source="Orphanet:79485/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79485 {source="MONDO:equivalentTo"} @@ -370809,10 +387524,12 @@ is_a: MONDO:0017318 {source="Orphanet:79485"} ! phakomatosis pigmentovascularis id: MONDO:0019328 name: macrocystic lymphatic malformation def: "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." [NCIT:C53316] +subset: gard_rare {source="GARD:6010"} subset: ordo_malformation_syndrome {source="Orphanet:79489"} synonym: "cavernous lymphangioma" EXACT [Orphanet:79489] synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489] synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489] +xref: GARD:6010 {source="Orphanet:79489"} xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"} xref: NCIT:C53316 {source="MONDO:equivalentTo"} xref: Orphanet:79489 {source="MONDO:equivalentTo"} @@ -370825,6 +387542,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019329 name: microcystic lymphatic malformation +subset: gard_rare {source="GARD:13020"} subset: ordo_malformation_syndrome {source="Orphanet:79490"} synonym: "capillary lymphangioma" RELATED [Orphanet:79490] synonym: "capillary lymphatic malformation" EXACT [Orphanet:79490] @@ -370833,6 +387551,7 @@ synonym: "microcystic infiltrating lymphatic malformation" EXACT [Orphanet:79490 synonym: "microcystic lymphangioma" EXACT [Orphanet:79490] synonym: "superficial lymphangioma" EXACT [Orphanet:79490] synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490] +xref: GARD:13020 {source="Orphanet:79490"} xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"} xref: Orphanet:79490 {source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma @@ -370844,8 +387563,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019330 name: pili gemini def: "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." [Orphanet:79492] +subset: gard_rare {source="GARD:19026"} subset: ordo_disease {source="Orphanet:79492"} synonym: "pili multigemini" EXACT [Orphanet:79492] +xref: GARD:19026 {source="Orphanet:79492"} xref: ICD10CM:L67.8 {source="Orphanet:79492", source="Orphanet:79492/attributed", source="Orphanet:79492/ntbt"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537188 {source="MONDO:equivalentTo"} @@ -370865,6 +387586,7 @@ replaced_by: MONDO:0000827 id: MONDO:0019332 name: punctate palmoplantar keratoderma type 1 def: "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." [Orphanet:79501] +subset: gard_rare {source="GARD:3103"} subset: ordo_disease {source="Orphanet:79501"} synonym: "Brauer-Buschke-Fischer syndrome" RELATED [GARD:0003103] synonym: "Buschke-Fischer-Brauer syndrome" EXACT [Orphanet:79501] @@ -370873,6 +387595,7 @@ synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXA synonym: "PPKP1" EXACT ABBREVIATION [Orphanet:79501] synonym: "punctate palmoplantar keratoderma type I" RELATED [GARD:0003103] synonym: "type I punctate palmoplantar keratoderma" RELATED [GARD:0003103] +xref: GARD:3103 {source="Orphanet:79501"} xref: ICD10CM:Q82.8 {source="Orphanet:79501", source="Orphanet:79501/attributed", source="Orphanet:79501/ntbt"} xref: Orphanet:79501 {source="MONDO:equivalentTo"} xref: SCTID:717184007 {source="MONDO:equivalentTo"} @@ -370886,8 +387609,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019333 name: autosomal recessive hyperinsulinism due to SUR1 deficiency +subset: gard_rare {source="GARD:16726"} subset: ordo_disease {source="Orphanet:79643"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:79643] +xref: GARD:16726 {source="Orphanet:79643"} xref: ICD10CM:E16.1 {source="Orphanet:79643/attributed", source="Orphanet:79643/ntbt", source="Orphanet:79643"} xref: Orphanet:79643 {source="MONDO:equivalentTo"} xref: UMLS:CN206002 {source="MONDO:equivalentTo"} @@ -370898,8 +387623,10 @@ property_value: confidence "7.2621082621082635" xsd:double [Term] id: MONDO:0019334 name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency +subset: gard_rare {source="GARD:16727"} subset: ordo_disease {source="Orphanet:79644"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:79644] +xref: GARD:16727 {source="Orphanet:79644"} xref: ICD10CM:E16.1 {source="Orphanet:79644", source="Orphanet:79644/attributed", source="Orphanet:79644/ntbt"} xref: Orphanet:79644 {source="MONDO:equivalentTo"} xref: UMLS:CN206003 {source="MONDO:equivalentTo"} @@ -370911,10 +387638,12 @@ property_value: confidence "14.30020048538567" xsd:double id: MONDO:0019335 name: mild hyperphenylalaninemia def: "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." [Orphanet:79651] +subset: gard_rare {source="GARD:19027"} subset: ordo_clinical_subtype {source="Orphanet:79651"} synonym: "mHPA" EXACT [Orphanet:79651] synonym: "mild HPA" EXACT [Orphanet:79651] synonym: "non-PKU HPA" EXACT [Orphanet:79651] +xref: GARD:19027 {source="Orphanet:79651"} xref: ICD10CM:E70.1 {source="Orphanet:79651/attributed", source="Orphanet:79651/ntbt", source="Orphanet:79651"} xref: Orphanet:79651 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:79651"} ! phenylketonuria @@ -370924,12 +387653,14 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:79651"} ! Autosoma id: MONDO:0019336 name: Gardner syndrome def: "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." [Orphanet:79665] +subset: gard_rare {source="GARD:6482"} subset: ordo_clinical_subtype {source="Orphanet:79665"} synonym: "Gardner syndrome" EXACT [NCIT:C6728] synonym: "Gardner's syndrome" EXACT [NCIT:C6728] synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumours" RELATED OMO:0003005 [] +xref: GARD:6482 {source="Orphanet:79665"} xref: ICD10CM:D12.6 {source="Orphanet:79665/attributed", source="Orphanet:79665/ntbt", source="Orphanet:79665"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"} @@ -370951,11 +387682,13 @@ id: MONDO:0019337 name: autoimmune bullous skin disease def: "An autoimmune disease characterized by blisters on the skin." [MONDO:cjm] subset: disease_grouping +subset: gard_rare {source="GARD:19028"} subset: ordo_group_of_disorders {source="Orphanet:79669"} synonym: "bullous dermatosis" RELATED [] synonym: "bullous skin disease" BROAD [MONDO:0006529] xref: DOID:8502 {source="MONDO:equivalentTo", source="EFO:1000673"} xref: EFO:1000673 {source="MONDO:equivalentTo"} +xref: GARD:19028 {source="Orphanet:79669"} xref: ICD9:694.8 {source="DOID:8502", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:694.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79669 {source="MONDO:equivalentTo"} @@ -370972,6 +387705,7 @@ id: MONDO:0019338 name: sarcoidosis def: "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." [Orphanet:797] comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230). +subset: gard_rare {source="GARD:7607"} subset: ordo_disease {source="Orphanet:797"} synonym: "benign lymphogranulomatosis of Schaumann" RELATED [] synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797] @@ -370986,6 +387720,7 @@ synonym: "miliary lupoid of boeck" RELATED [] synonym: "sarcoid" EXACT [NCIT:C34995] synonym: "sarcoidosis" EXACT [] xref: DOID:11335 {source="MONDO:equivalentTo"} +xref: GARD:7607 {source="Orphanet:797"} xref: ICD10CM:D80-D89 {source="DOID:11335"} xref: ICD10CM:D86 {source="DOID:11335"} xref: ICD10CM:D86.0 {source="Orphanet:797", source="Orphanet:797/btnt"} @@ -371020,6 +387755,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019339 name: 47,XYY syndrome def: "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." [Orphanet:8] +subset: gard_rare {source="GARD:5674"} subset: ordo_malformation_syndrome {source="Orphanet:8"} synonym: "47, XYY syndrome" RELATED [GARD:0005674] synonym: "47,XYY" EXACT [NCIT:C85237] @@ -371031,6 +387767,7 @@ synonym: "XYY karyotype" EXACT [NCIT:C85237] synonym: "XYY syndrome" EXACT [NCIT:C85237] synonym: "Y disomy" EXACT [Orphanet:8] synonym: "YY syndrome" RELATED [GARD:0005674] +xref: GARD:5674 {source="Orphanet:8"} xref: ICD10CM:Q98.5 {source="Orphanet:8", source="Orphanet:8/specific", source="Orphanet:8/e"} xref: MedDRA:10056894 {source="Orphanet:8", source="Orphanet:8/e"} xref: MESH:C535317 {source="Orphanet:8", source="MONDO:equivalentTo", source="Orphanet:8/e"} @@ -371050,11 +387787,13 @@ id: MONDO:0019340 name: scleroderma def: "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." [Orphanet:801] subset: disease_grouping +subset: gard_rare {source="GARD:18705"} subset: ordo_group_of_disorders {source="Orphanet:801"} synonym: "dermatosclerosis" EXACT [DOID:419] synonym: "scleroderma" EXACT [MONDO:0002906, MONDO:ambiguous, NCIT:C26746] synonym: "scleroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:419 {source="MONDO:equivalentTo"} +xref: GARD:18705 {source="Orphanet:801"} xref: HP:0100324 {source="MONDO:otherHierarchy"} xref: MedDRA:10039710 {source="Orphanet:801", source="Orphanet:801/e"} xref: MESH:D012594 {source="DOID:419"} @@ -371088,6 +387827,7 @@ replaced_by: MONDO:0001734 id: MONDO:0019342 name: Seckel syndrome def: "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." [NCIT:C125488] +subset: gard_rare {source="GARD:8562"} subset: ordo_malformation_syndrome {source="Orphanet:808"} synonym: "bird-headed dwarfism" EXACT [DOID:0050569] synonym: "Harper's syndrome" EXACT [DOID:0050569] @@ -371097,6 +387837,7 @@ synonym: "SCKL" EXACT ABBREVIATION [NCIT:C125488] synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488] synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569] xref: DOID:0050569 {source="MONDO:equivalentTo"} +xref: GARD:8562 {source="Orphanet:808"} xref: ICD10CM:Q87.1 {source="Orphanet:808/inclusion", source="Orphanet:808/ntbt", source="DOID:0050569", source="Orphanet:808"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537533 {source="Orphanet:808/e", source="Orphanet:808"} @@ -371120,12 +387861,13 @@ replaced_by: MONDO:0005854 id: MONDO:0019344 name: antisynthetase syndrome def: "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." [Orphanet:81] -subset: gard_rare {source="GARD:0000735"} +subset: gard_rare {source="GARD:735"} subset: ordo_disease {source="Orphanet:81"} synonym: "anti-Jo1 syndrome" EXACT [Orphanet:81] synonym: "AS syndrome" EXACT [Orphanet:81] xref: DOID:0080744 {source="MONDO:equivalentTo"} xref: EFO:1001982 {source="MONDO:equivalentTo"} +xref: GARD:735 {source="Orphanet:81"} xref: ICD10CM:M35.8 {source="Orphanet:81", source="Orphanet:81/ntbt"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068801 {source="Orphanet:81/e", source="Orphanet:81"} @@ -371140,7 +387882,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/735/antisynt id: MONDO:0019345 name: shigellosis def: "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." [Orphanet:810] -subset: gard_rare {source="GARD:0004818"} +subset: gard_rare {source="GARD:4818"} subset: ordo_disease {source="Orphanet:810"} synonym: "bacillary dysentery" EXACT [DOID:12385] synonym: "flexner's dysentery" RELATED [] @@ -371153,6 +387895,7 @@ synonym: "Shigella sonnei infectious disease" NARROW [DOID:12385] synonym: "shigellosis" EXACT [] xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"} xref: EFO:0005585 {source="MONDO:equivalentTo"} +xref: GARD:4818 {source="Orphanet:810"} xref: ICD10CM:A03 {source="MONDO:equivalentTo", source="DOID:12385"} xref: ICD10CM:A03.0 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} xref: ICD10CM:A03.1 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} @@ -371204,6 +387947,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4818/shigell id: MONDO:0019346 name: sialidosis type 1 def: "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." [Orphanet:812] +subset: gard_rare {source="GARD:7639"} subset: ordo_disease {source="Orphanet:812"} synonym: "cherry red spot myoclonus syndrome" RELATED [GARD:0007639] synonym: "cherry-red spot-myoclonus syndrome" EXACT [Orphanet:812] @@ -371212,6 +387956,7 @@ synonym: "myoclonus cherry red spot syndrome" RELATED [GARD:0007639] synonym: "Normomorphic sialidosis" EXACT [Orphanet:812] synonym: "normosomatic sialidosis" EXACT [] synonym: "sialidosis type I" RELATED [GARD:0007639] +xref: GARD:7639 {source="Orphanet:812"} xref: ICD10CM:E77.1 {source="Orphanet:812/attributed", source="Orphanet:812/ntbt", source="Orphanet:812"} xref: OMIM:256550 {source="Orphanet:812/ntbt", source="Orphanet:812", source="MONDO:includedEntryInOMIM"} xref: Orphanet:812 {source="MONDO:equivalentTo"} @@ -371231,6 +387976,7 @@ id: MONDO:0019347 name: peeling skin syndrome def: "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." [Orphanet:817] subset: disease_grouping +subset: gard_rare {source="GARD:7347"} subset: ordo_group_of_disorders {source="Orphanet:817"} synonym: "deciduous skin" EXACT [Orphanet:817] synonym: "familial continuous skin peeling" RELATED [GARD:0007347] @@ -371241,6 +387987,7 @@ synonym: "peeling skin disease" EXACT [Orphanet:817] synonym: "PSS" EXACT ABBREVIATION [Orphanet:817] synonym: "skin peeling syndrome" RELATED [GARD:0007347] xref: DOID:0060283 {source="MONDO:equivalentTo"} +xref: GARD:7347 {source="Orphanet:817"} xref: ICD10CM:Q80.8 {source="Orphanet:817/attributed", source="Orphanet:817/ntbt", source="Orphanet:817", source="DOID:0060283"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:270300 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -371276,6 +388023,7 @@ consider: MONDO:0020341 id: MONDO:0019349 name: Sotos syndrome def: "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." [Orphanet:821] +subset: gard_rare {source="GARD:15048", source="GARD:10091"} subset: ordo_disease {source="Orphanet:821"} synonym: "cerebral gigantism" EXACT [DOID:14748, OMIM:117550, Orphanet:821] synonym: "cerebral gigantism syndrome" EXACT [NCIT:C75019] @@ -371291,6 +388039,8 @@ synonym: "SOTOS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:117550] xref: DECIPHER:17 {source="MONDO:equivalentTo"} xref: DOID:0112103 xref: DOID:14748 {source="MONDO:equivalentTo"} +xref: GARD:10091 {source="Orphanet:821"} +xref: GARD:15048 {source="OMIM:117550"} xref: ICD10CM:Q87.3 {source="Orphanet:821/inclusion", source="DOID:14748", source="Orphanet:821", source="Orphanet:821/ntbt"} xref: MedDRA:10064387 {source="Orphanet:821", source="Orphanet:821/e"} xref: MESH:D058495 {source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} @@ -371320,7 +388070,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019350 name: hereditary spherocytosis def: "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." [Orphanet:822] -subset: gard_rare {source="GARD:0006639"} +subset: gard_rare {source="GARD:6639"} subset: ordo_disease {source="Orphanet:822"} synonym: "congenital spherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971] @@ -371331,6 +388081,7 @@ synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822] synonym: "spherocytic anaemia" EXACT OMO:0003005 [] synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} +xref: GARD:6639 {source="Orphanet:822"} xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"} xref: ICD9:282.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12971"} xref: MedDRA:10019904 {source="Orphanet:822", source="Orphanet:822/e"} @@ -371353,11 +388104,13 @@ id: MONDO:0019351 name: isolated spina bifida def: "A spina bifida (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping +subset: gard_rare {source="GARD:7673"} subset: ordo_group_of_disorders {source="Orphanet:823"} synonym: "cleft spine" RELATED [GARD:0007673] synonym: "isolated spina bifida (disease)" EXACT [] synonym: "nonsyndromic spina bifida (disease)" EXACT [MONDO:patterns/isolated] synonym: "open spine" RELATED [GARD:0007673] +xref: GARD:7673 {source="Orphanet:823"} xref: ICD10CM:Q05.0 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} xref: ICD10CM:Q05.1 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} xref: ICD10CM:Q05.2 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} @@ -371386,7 +388139,7 @@ replaced_by: MONDO:0005968 id: MONDO:0019353 name: Stargardt disease def: "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." [Orphanet:827] -subset: gard_rare {source="GARD:0000181"} +subset: gard_rare {source="GARD:181"} subset: ordo_disease {source="Orphanet:827"} synonym: "fundus flavimaculatus" EXACT [Orphanet:827] synonym: "juvenile onset macular degeneration" RELATED [GARD:0000181] @@ -371394,6 +388147,7 @@ synonym: "Stargardt 1" EXACT [Orphanet:827] synonym: "Stargardt disease 1" NARROW [DOID:0050817] synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181] xref: DOID:0050817 {source="MONDO:equivalentTo"} +xref: GARD:181 {source="Orphanet:827"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:827/inclusion", source="Orphanet:827", source="Orphanet:827/ntbt"} xref: MedDRA:10062766 {source="Orphanet:827", source="Orphanet:827/e"} xref: MESH:D000080362 {source="MONDO:equivalentTo"} @@ -371412,10 +388166,12 @@ id: MONDO:0019354 name: Stickler syndrome def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." [Orphanet:828] comment: Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome +subset: gard_rare {source="GARD:10782"} subset: ordo_disease {source="Orphanet:828"} synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828] synonym: "Stickler syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0080046 {source="MONDO:equivalentTo"} +xref: GARD:10782 {source="Orphanet:828"} xref: ICD10CM:Q87.0 {source="Orphanet:828/attributed", source="Orphanet:828/ntbt", source="Orphanet:828"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063402 {source="Orphanet:828/e", source="Orphanet:828"} @@ -371436,7 +388192,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108300"} ! inheri id: MONDO:0019355 name: adult-onset Still disease def: "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." [Orphanet:829] -subset: gard_rare {source="GARD:0000436"} +subset: gard_rare {source="GARD:436"} subset: ordo_disease {source="Orphanet:829"} synonym: "adult onset Still's disease" EXACT [DOID:14256] synonym: "adult Still's disease" RELATED [GARD:0000436] @@ -371447,6 +388203,7 @@ synonym: "Still's disease adult onset" RELATED [GARD:0000436] synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829] xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"} xref: EFO:0007135 {source="MONDO:equivalentTo"} +xref: GARD:436 {source="Orphanet:829"} xref: ICD10CM:M06.1 {source="Orphanet:829/e", source="DOID:14256", source="Orphanet:829"} xref: ICD9:714.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -371475,7 +388232,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/436/adult-on id: MONDO:0019356 name: urogenital tract malformation subset: disease_grouping +subset: gard_rare {source="GARD:19029"} subset: ordo_group_of_disorders {source="Orphanet:83001"} +xref: GARD:19029 {source="Orphanet:83001"} xref: ICD10CM:Q50-Q56 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:83001 {source="MONDO:equivalentTo"} @@ -371486,9 +388245,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare id: MONDO:0019357 name: congenital narrowing of cervical spinal canal def: "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." [Orphanet:831] +subset: gard_rare {source="GARD:18706"} subset: ordo_disease {source="Orphanet:831"} synonym: "congenital cervical spinal stenosis" RELATED [Orphanet:831] synonym: "congenital stenosis of the cervical spine" EXACT [Orphanet:831] +xref: GARD:18706 {source="Orphanet:831"} xref: ICD10CM:Q06.8 {source="Orphanet:831/ntbt", source="Orphanet:831"} xref: Orphanet:831 {source="MONDO:equivalentTo"} is_a: MONDO:0002602 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system disorder @@ -371498,7 +388259,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019358 name: encephalopathy due to sulfite oxidase deficiency def: "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." [Orphanet:833] +subset: gard_rare {source="GARD:16549"} subset: ordo_disease {source="Orphanet:833"} +xref: GARD:16549 {source="Orphanet:833"} xref: ICD10CM:E72.1 {source="Orphanet:833/inclusion", source="Orphanet:833/ntbt", source="Orphanet:833"} xref: Orphanet:833 {source="MONDO:equivalentTo"} xref: SCTID:715980003 {source="MONDO:equivalentTo"} @@ -371513,7 +388276,7 @@ relationship: disease_has_basis_in_disruption_of GO:0008482 ! sulfite oxidase ac id: MONDO:0019359 name: Rocky mountain spotted fever def: "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." [https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever] -subset: gard_rare {source="GARD:0007585"} +subset: gard_rare {source="GARD:7585"} subset: ordo_disease {source="Orphanet:83311"} synonym: "Brazillian spotted" RELATED [DOID:0050052] synonym: "Choix" RELATED [DOID:0050052] @@ -371526,6 +388289,7 @@ synonym: "So Paulo fever" RELATED [DOID:0050052] synonym: "Tick typhus" RELATED [DOID:0050052] synonym: "Tobia fever" RELATED [DOID:0050052] xref: DOID:0050052 {source="MONDO:equivalentTo"} +xref: GARD:7585 {source="Orphanet:83311"} xref: ICD10CM:A77.0 {source="Orphanet:83311", source="Orphanet:83311/e"} xref: MedDRA:10039207 {source="Orphanet:83311", source="Orphanet:83311/e"} xref: MESH:D012373 {source="Orphanet:83311", source="MONDO:equivalentTo", source="Orphanet:83311/e"} @@ -371543,10 +388307,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7585/rocky-m [Term] id: MONDO:0019360 name: rickettsialpox +subset: gard_rare {source="GARD:19030"} subset: ordo_disease {source="Orphanet:83312"} synonym: "Rickettsia akari spotted fever" EXACT [DOID:11103] synonym: "vesicular rickettsiosis" EXACT [DOID:11103] xref: DOID:11103 {source="MONDO:equivalentTo"} +xref: GARD:19030 {source="Orphanet:83312"} xref: ICD10CM:A79.1 {source="Orphanet:83312", source="Orphanet:83312/e", source="DOID:11103"} xref: ICD9:083.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11103"} xref: MedDRA:10039137 {source="Orphanet:83312", source="Orphanet:83312/e"} @@ -371568,6 +388334,7 @@ replaced_by: MONDO:0005677 id: MONDO:0019362 name: epidemic louse-borne typhus def: "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." [NCIT:C84689] +subset: gard_rare {source="GARD:19032"} subset: ordo_disease {source="Orphanet:83314"} synonym: "epidemic louse-borne typhus" EXACT [NCIT:C84689] synonym: "epidemic typhus" EXACT [NCIT:C84689] @@ -371575,6 +388342,7 @@ synonym: "epidemic typhus fever" EXACT [NCIT:C84689] synonym: "sylvatic typhus" EXACT [DOID:0050480] synonym: "typhus" BROAD [Wikipedia:Typhus] xref: DOID:0050480 {source="MONDO:equivalentTo"} +xref: GARD:19032 {source="Orphanet:83314"} xref: ICD10CM:A75.0 {source="Orphanet:83314", source="Orphanet:83314/e"} xref: MedDRA:10014979 {source="Orphanet:83314", source="Orphanet:83314/e"} xref: MESH:D014438 {source="Orphanet:83314", source="Orphanet:83314/e"} @@ -371599,7 +388367,9 @@ replaced_by: MONDO:0000330 id: MONDO:0019364 name: pseudotyphus of California def: "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." [Orphanet:83316] +subset: gard_rare {source="GARD:19034"} subset: ordo_disease {source="Orphanet:83316"} +xref: GARD:19034 {source="Orphanet:83316"} xref: ICD10CM:A79.8 {source="Orphanet:83316", source="Orphanet:83316/ntbt"} xref: Orphanet:83316 {source="MONDO:equivalentTo"} xref: SCTID:764104003 {source="MONDO:equivalentTo"} @@ -371612,6 +388382,7 @@ relationship: disease_has_infectious_agent NCBITaxon:42862 ! Rickettsia felis id: MONDO:0019365 name: scrub typhus def: "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." [Orphanet:83317] +subset: gard_rare {source="GARD:19035"} subset: ordo_disease {source="Orphanet:83317"} synonym: "chigger-borne rickettsiosis" RELATED [DOID:13371] synonym: "chigger-borne typhus" RELATED [DOID:13371] @@ -371628,6 +388399,7 @@ synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317] synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371] xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"} xref: EFO:0007480 {source="MONDO:equivalentTo"} +xref: GARD:19035 {source="Orphanet:83317"} xref: ICD10CM:A75.3 {source="Orphanet:83317/e", source="DOID:13371", source="Orphanet:83317"} xref: ICD9:081.2 {source="MONDO:equivalentTo", source="DOID:13371", source="MONDO:i2s"} xref: MedDRA:10039766 {source="Orphanet:83317/e", source="Orphanet:83317"} @@ -371653,8 +388425,10 @@ relationship: transmitted_by NCBITaxon:299467 ! Leptotrombidium deliense id: MONDO:0019366 name: free sialic acid storage disease def: "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." [Orphanet:834] +subset: gard_rare {source="GARD:10870"} subset: ordo_disease {source="Orphanet:834"} synonym: "free sialic acid storage disease" EXACT CLINGEN_PREFERRED [] +xref: GARD:10870 {source="Orphanet:834"} xref: ICD10CM:E77.8 {source="Orphanet:834/attributed", source="Orphanet:834/ntbt", source="Orphanet:834"} xref: MedDRA:10067529 {source="Orphanet:834", source="Orphanet:834/e"} xref: MedDRA:10067531 {source="Orphanet:834", source="Orphanet:834/e"} @@ -371669,8 +388443,10 @@ is_a: MONDO:0019246 {source="Orphanet:834", source="https://orcid.org/0000-0001- id: MONDO:0019367 name: regional odontodysplasia def: "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." [Orphanet:83450] +subset: gard_rare {source="GARD:19036"} subset: ordo_disease {source="Orphanet:83450"} synonym: "ghost teeth" EXACT [Orphanet:83450] +xref: GARD:19036 {source="Orphanet:83450"} xref: ICD10CM:K00.4 {source="Orphanet:83450", source="Orphanet:83450/ntbt"} xref: MESH:D018126 {source="MONDO:equivalentTo"} xref: Orphanet:83450 {source="MONDO:equivalentTo"} @@ -371681,11 +388457,12 @@ is_a: MONDO:0002635 {source="https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019368 name: florid cemento-osseous dysplasia def: "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." [Orphanet:83451] -subset: gard_rare {source="GARD:0010173"} +subset: gard_rare {source="GARD:10173"} subset: ordo_disease {source="Orphanet:83451"} synonym: "florid osseous dysplasia" EXACT [Orphanet:83451] synonym: "focal cemento-osseous dysplasia" EXACT [Orphanet:83451] synonym: "Gigantiform cementoma" RELATED [GARD:0010173] +xref: GARD:10173 {source="Orphanet:83451"} xref: ICD10CM:D16.4 {source="Orphanet:83451", source="Orphanet:83451/ntbt"} xref: ICD10CM:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="Orphanet:83451/ntbt"} xref: ICDO:9275/0 {source="NCIT:C8381"} @@ -371701,12 +388478,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10173/florid id: MONDO:0019369 name: complex regional pain syndrome def: "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." [Orphanet:83452] -subset: gard_rare +subset: gard_rare {source="GARD:4647"} subset: ordo_disease {source="Orphanet:83452"} synonym: "Complex regional pain syndromes" EXACT [DOID:3223] synonym: "CRPS" RELATED ABBREVIATION [GARD:0004647] synonym: "reflex sympathetic dystrophy" RELATED [GARD:0004647] xref: DOID:3223 {source="MONDO:equivalentTo"} +xref: GARD:4647 {source="Orphanet:83452"} xref: ICD10CM:G56.4 {source="Orphanet:83452/btnt", source="Orphanet:83452"} xref: ICD10CM:M89.0 {source="Orphanet:83452/btnt", source="Orphanet:83452"} xref: MedDRA:10064332 {source="Orphanet:83452", source="Orphanet:83452/e"} @@ -371719,7 +388497,9 @@ is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome [Term] id: MONDO:0019370 name: vulvovaginal gingival syndrome +subset: gard_rare {source="GARD:19037"} subset: ordo_disease {source="Orphanet:83453"} +xref: GARD:19037 {source="Orphanet:83453"} xref: ICD10CM:L43.8 {source="Orphanet:83453", source="Orphanet:83453/ntbt"} xref: Orphanet:83453 {source="MONDO:equivalentTo"} xref: SCTID:707250009 {source="MONDO:equivalentTo"} @@ -371731,8 +388511,10 @@ is_a: MONDO:0002263 {source="MONDO:0015859-obsoleted", source="https://orcid.org id: MONDO:0019371 name: narcolepsy without cataplexy def: "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [Orphanet:83465] +subset: gard_rare {source="GARD:19038"} subset: ordo_disease {source="Orphanet:83465"} xref: EFO:0005855 {source="MONDO:equivalentTo"} +xref: GARD:19038 {source="Orphanet:83465"} xref: ICD10CM:G47.4 {source="Orphanet:83465/ntbt", source="Orphanet:83465", source="MONDO:directSiblingOf"} xref: ICD10CM:G47.419 {source="MONDO:equivalentTo"} xref: ICD9:347.00 {source="EFO:0005855"} @@ -371750,6 +388532,7 @@ id: MONDO:0019372 name: solitary bone cyst def: "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." [Orphanet:83468] comment: Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT +subset: gard_rare {source="GARD:19039"} subset: ordo_disease {source="Orphanet:83468"} synonym: "bone cyst" EXACT [NCIT:C2904] synonym: "cyst of bone" EXACT [NCIT:C2904] @@ -371757,6 +388540,7 @@ synonym: "cyst of the bone" EXACT [NCIT:C2904] synonym: "simple bone cyst" EXACT [NCIT:C2904] synonym: "solitary cyst" EXACT [NCIT:C2904] synonym: "unicameral bone cyst" EXACT [Orphanet:83468] +xref: GARD:19039 {source="Orphanet:83468"} xref: ICD10CM:M85.4 {source="MONDO:equivalentTo", source="Orphanet:83468", source="Orphanet:83468/e"} xref: ICD9:733.21 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001845 {source="MONDO:equivalentTo"} @@ -371771,7 +388555,7 @@ is_a: MONDO:0019060 {source="Orphanet:83468"} ! bone neoplasm id: MONDO:0019373 name: desmoplastic small round cell tumor def: "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." [Orphanet:83469] -subset: gard_rare {source="GARD:0006265"} +subset: gard_rare {source="GARD:6265"} subset: ordo_disease {source="Orphanet:83469"} synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300] synonym: "Desmoplas. small round cell tumour" EXACT OMO:0003005 [] @@ -371788,6 +388572,7 @@ synonym: "Polyphenotypic small round cell tumor" EXACT [NCIT:C8300] synonym: "Polyphenotypic small round cell tumour" EXACT OMO:0003005 [] xref: DOID:6785 {source="MONDO:equivalentTo", source="EFO:1000895", source="MONDO:obsolete"} xref: EFO:1000895 {source="MONDO:equivalentTo"} +xref: GARD:6265 {source="Orphanet:83469"} xref: HGNC:12796 {source="GARD:0006265"} xref: ICD10CM:C48.2 {source="Orphanet:83469", source="Orphanet:83469/ntbt"} xref: ICDO:8806/3 {source="NCIT:C8300"} @@ -371807,6 +388592,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6265/desmopl id: MONDO:0019374 name: CAMOS syndrome def: "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." [Orphanet:83472] +subset: gard_rare {source="GARD:9977"} subset: ordo_malformation_syndrome {source="Orphanet:83472"} synonym: "CAMOS" RELATED ABBREVIATION [GARD:0009977] synonym: "cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities" RELATED [GARD:0009977] @@ -371814,6 +388600,7 @@ synonym: "cerebellar ataxia with mental retardation optic atrophy and skin abnor synonym: "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" EXACT [Orphanet:83472] synonym: "SCAR5" EXACT ABBREVIATION [Orphanet:83472] synonym: "spinocerebellar ataxia autosomal recessive 5" RELATED [GARD:0009977] +xref: GARD:9977 {source="Orphanet:83472"} xref: ICD10CM:G11.1 {source="Orphanet:83472", source="Orphanet:83472/attributed", source="Orphanet:83472/ntbt"} xref: OMIM:606937 {source="Orphanet:83472", source="MONDO:equivalentObsolete", source="Orphanet:83472/e"} xref: Orphanet:83472 {source="MONDO:equivalentTo"} @@ -371826,11 +388613,13 @@ is_a: MONDO:0020043 {source="Orphanet:83472"} ! autosomal recessive congenital c id: MONDO:0019375 name: megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome def: "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." [Orphanet:83473] +subset: gard_rare {source="GARD:10341"} subset: ordo_malformation_syndrome {source="Orphanet:83473"} synonym: "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus" RELATED [GARD:0010341] synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" RELATED [GARD:0010341] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387] synonym: "MPPH syndrome" EXACT [Orphanet:83473] +xref: GARD:10341 {source="Orphanet:83473"} xref: ICD10CM:Q04.8 {source="Orphanet:83473", source="Orphanet:83473/attributed", source="Orphanet:83473/ntbt"} xref: OMIMPS:603387 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="MONDO:equivalentTo"} @@ -371845,6 +388634,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603387"} ! inheri id: MONDO:0019376 name: West-Nile encephalitis def: "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." [Orphanet:83476] +subset: gard_rare {source="GARD:9959"} subset: ordo_disease {source="Orphanet:83476"} synonym: "West Nile encephalitis" EXACT [MONDO:0006016] synonym: "West Nile fever encephalitis" EXACT [DOID:2365] @@ -371854,6 +388644,7 @@ synonym: "West Nile virus infectious encephalitis" EXACT [] synonym: "West-Nile fever" EXACT [Orphanet:83476] xref: DOID:2365 {source="EFO:0007545", source="MONDO:equivalentTo"} xref: EFO:0007545 {source="MONDO:equivalentTo"} +xref: GARD:9959 {source="Orphanet:83476"} xref: ICD10CM:A92.3 {source="Orphanet:83476/ntbt", source="Orphanet:83476"} xref: ICD10CM:A92.31 {source="DOID:2365"} xref: ICD9:066.41 {source="DOID:2365", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -371874,9 +388665,11 @@ relationship: transmitted_by NCBITaxon:7174 ! Culex id: MONDO:0019377 name: Mycoplasma encephalitis def: "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." [Orphanet:83482] +subset: gard_rare {source="GARD:19040"} subset: ordo_disease {source="Orphanet:83482"} synonym: "Mycoplasma pneumoniae caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycoplasma pneumoniae infectious encephalitis" EXACT [] +xref: GARD:19040 {source="Orphanet:83482"} xref: ICD10CM:B96.0 {source="Orphanet:83482/ntbt", source="Orphanet:83482"} xref: Orphanet:83482 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83482"} ! infectious encephalitis @@ -371887,6 +388680,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:2104 ! Mycoplasmoides pn id: MONDO:0019378 name: la Crosse encephalitis def: "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." [Orphanet:83483] +subset: gard_rare {source="GARD:10925"} subset: ordo_disease {source="Orphanet:83483"} synonym: "California encephalitis" EXACT [DOID:0050118] synonym: "California virus encephalitis" EXACT [DOID:0050118] @@ -371895,6 +388689,7 @@ synonym: "La Crosse virus caused infectious encephalitis" EXACT [MONDO:patterns/ synonym: "La Crosse virus infectious encephalitis" EXACT [] synonym: "Neuroinvasive California encephalitis virus infection" EXACT [DOID:0050118] xref: DOID:0050118 {source="MONDO:equivalentTo"} +xref: GARD:10925 {source="Orphanet:83483"} xref: ICD10CM:A83.5 {source="Orphanet:83483", source="Orphanet:83483/ntbt", source="DOID:0050118"} xref: ICD9:062.5 {source="DOID:0050118"} xref: MedDRA:10014584 {source="Orphanet:83483", source="Orphanet:83483/e"} @@ -371926,7 +388721,7 @@ replaced_by: MONDO:0005969 id: MONDO:0019380 name: western equine encephalitis def: "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." [Orphanet:83593] -subset: gard_rare {source="GARD:0007888"} +subset: gard_rare {source="GARD:7888"} subset: ordo_disease {source="Orphanet:83593"} synonym: "WEE" RELATED ABBREVIATION [DOID:10843] synonym: "Western equine encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -371934,6 +388729,7 @@ synonym: "Western equine encephalitis virus infectious encephalitis" EXACT [] synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593] xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"} xref: EFO:0007546 {source="MONDO:equivalentTo"} +xref: GARD:7888 {source="Orphanet:83593"} xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="Orphanet:83593/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014614 {source="Orphanet:83593", source="Orphanet:83593/e"} @@ -371967,7 +388763,7 @@ replaced_by: MONDO:0005708 id: MONDO:0019383 name: acute disseminated encephalomyelitis def: "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." [Orphanet:83597] -subset: gard_rare {source="GARD:0008639"} +subset: gard_rare {source="GARD:8639"} subset: ordo_disease {source="Orphanet:83597"} synonym: "acute disseminated encephalitis" EXACT [DOID:639, Orphanet:83597] synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, NCIT:C34578] @@ -371975,6 +388771,7 @@ synonym: "ADE" RELATED ABBREVIATION [GARD:0008639] synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, Orphanet:83597] xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"} xref: EFO:0007130 {source="MONDO:equivalentTo"} +xref: GARD:8639 {source="Orphanet:83597"} xref: ICD10CM:G04.0 {source="Orphanet:83597/ntbt", source="Orphanet:83597"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"} @@ -371993,6 +388790,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8639/acute-d id: MONDO:0019384 name: encephalitis lethargica def: "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." [NCIT:C26761] +subset: gard_rare {source="GARD:6332"} subset: historic_epidemic subset: ordo_disease {source="Orphanet:83600"} synonym: "encephalitis lethargica" EXACT [DOID:5225] @@ -372003,6 +388801,7 @@ synonym: "Von Economo encephalitis" EXACT [Orphanet:83600] synonym: "von Economo's disease" EXACT [MONDO:0003338] synonym: "Von Economo’s disease" RELATED [GARD:0006332] xref: DOID:5225 {source="MONDO:equivalentTo"} +xref: GARD:6332 {source="Orphanet:83600"} xref: ICD10CM:A85.8 {source="DOID:5225", source="Orphanet:83600", source="Orphanet:83600/ntbt"} xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052369 {source="Orphanet:83600", source="Orphanet:83600/e"} @@ -372024,12 +388823,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6332/encepha id: MONDO:0019385 name: steroid-responsive encephalopathy associated with autoimmune thyroiditis comment: Editor note: TODO DP for chebi roles +subset: gard_rare {source="GARD:8570"} subset: ordo_disease {source="Orphanet:83601"} synonym: "Hashimoto encephalitis" RELATED [Orphanet:83601] synonym: "Hashimoto's encephalitis" RELATED [GARD:0008570] synonym: "Hashimoto's encephalopathy" RELATED [GARD:0008570] synonym: "SREAT" EXACT ABBREVIATION [Orphanet:83601] synonym: "steroid-responsive encephalopathy associated with thyroid disease" BROAD [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/antibody-mediated-overview.html] +xref: GARD:8570 {source="Orphanet:83601"} xref: ICD10CM:G04.8 {source="Orphanet:83601", source="Orphanet:83601/ntbt"} xref: MESH:C535841 {source="MONDO:equivalentTo"} xref: Orphanet:83601 {source="MONDO:equivalentTo"} @@ -372046,8 +388847,10 @@ relationship: has_characteristic MONDO:0021141 {source="Orphanet:83601"} ! acqui id: MONDO:0019386 name: progressive rubella panencephalitis def: "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." [Wikipedia:Progressive_rubella_panencephalitis] +subset: gard_rare {source="GARD:19043"} subset: ordo_disease {source="Orphanet:83616"} synonym: "rubella panencephalitis" RELATED [] +xref: GARD:19043 {source="Orphanet:83616"} xref: ICD10EXP:B06.0+ {source="Orphanet:83616/ntbt", source="Orphanet:83616"} xref: ICD10EXP:G05.1* {source="Orphanet:83616/ntbt", source="Orphanet:83616"} xref: Orphanet:83616 {source="MONDO:equivalentTo"} @@ -372062,7 +388865,9 @@ relationship: has_characteristic MONDO:0021141 {source="Orphanet:83616"} ! acqui id: MONDO:0019387 name: macrostomia-preauricular tags-external ophthalmoplegia syndrome def: "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." [Orphanet:83619] +subset: gard_rare {source="GARD:19044"} subset: ordo_malformation_syndrome {source="Orphanet:83619"} +xref: GARD:19044 {source="Orphanet:83619"} xref: ICD10CM:Q87.0 {source="Orphanet:83619/attributed", source="Orphanet:83619/ntbt", source="Orphanet:83619"} xref: Orphanet:83619 {source="MONDO:equivalentTo"} xref: UMLS:CN206081 {source="MONDO:equivalentTo"} @@ -372074,12 +388879,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0019388 name: pelvis syndrome def: "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." [Orphanet:83628] +subset: gard_rare {source="GARD:19045"} subset: ordo_malformation_syndrome {source="Orphanet:83628"} synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" EXACT [Orphanet:83628] synonym: "LUMBAR syndrome" EXACT [Orphanet:83628] synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628] synonym: "SACRAL syndrome" EXACT [Orphanet:83628] synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628] +xref: GARD:19045 {source="Orphanet:83628"} xref: ICD10CM:Q87.8 {source="Orphanet:83628/attributed", source="Orphanet:83628/ntbt", source="Orphanet:83628"} xref: Orphanet:83628 {source="MONDO:equivalentTo"} xref: SCTID:725138002 {source="MONDO:equivalentTo"} @@ -372106,7 +388913,7 @@ is_obsolete: true id: MONDO:0019390 name: Susac syndrome def: "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." [Orphanet:838] -subset: gard_rare {source="GARD:0007713"} +subset: gard_rare {source="GARD:7713"} subset: ordo_disease {source="Orphanet:838"} synonym: "RED-M" EXACT [Orphanet:838] synonym: "Retinocochleocerebral vasculopathy" EXACT [Orphanet:838] @@ -372115,6 +388922,7 @@ synonym: "SICRET (small infarction of cochlear, retinal, and encephalic tissue) synonym: "SICRET syndrome" EXACT [Orphanet:838] synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838] xref: EFO:1001856 {source="MONDO:equivalentTo"} +xref: GARD:7713 {source="Orphanet:838"} xref: ICD10CM:I67.7 {source="Orphanet:838", source="Orphanet:838/ntbt"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071573 {source="Orphanet:838", source="Orphanet:838/e"} @@ -372133,6 +388941,7 @@ id: MONDO:0019391 name: Fanconi anemia def: "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." [Orphanet:84] subset: clingen +subset: gard_rare {source="GARD:6425"} subset: ordo_malformation_syndrome {source="Orphanet:84"} synonym: "Fanconi anemia" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84] @@ -372143,6 +388952,7 @@ synonym: "pancytopenia, congenital" EXACT [NCIT:C62505] synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505] synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505] xref: DOID:13636 {source="MONDO:equivalentTo"} +xref: GARD:6425 {source="Orphanet:84"} xref: ICD10CM:D61.0 {source="Orphanet:84/ntbt", source="Orphanet:84/inclusion", source="Orphanet:84"} xref: ICD10CM:D61.09 {source="DOID:13636"} xref: ICD9:284.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -372171,6 +388981,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019392 name: syringocystadenoma papilliferum def: "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." [NCIT:C4172] +subset: gard_rare {source="GARD:5100"} subset: ordo_disease {source="Orphanet:840"} synonym: "fistulous vegetative verrucous hydradenoma" EXACT [Orphanet:840] synonym: "naevus syringocystadenomatosus papilliferus" EXACT [Orphanet:840] @@ -372184,6 +388995,7 @@ synonym: "Syringadenoma papilliferum" EXACT [Orphanet:840] synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172] xref: DOID:5445 {source="MONDO:equivalentTo"} xref: EFO:1000558 {source="MONDO:equivalentTo"} +xref: GARD:5100 {source="Orphanet:840"} xref: ICD10CM:D23.9 {source="Orphanet:840", source="Orphanet:840/ntbt"} xref: ICDO:8406/0 {source="NCIT:C4172"} xref: MedDRA:10042926 {source="Orphanet:840", source="Orphanet:840/e"} @@ -372201,8 +389013,10 @@ relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:840"} ! obsole id: MONDO:0019393 name: idiopathic malabsorption due to bile acid synthesis defects def: "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." [Orphanet:84065] +subset: gard_rare {source="GARD:19046"} subset: ordo_disease {source="Orphanet:84065"} synonym: "idiopathic bile acid malabsorption" EXACT [Orphanet:84065] +xref: GARD:19046 {source="Orphanet:84065"} xref: ICD10CM:K90.8 {source="Orphanet:84065/ntbt", source="Orphanet:84065"} xref: Orphanet:84065 {source="MONDO:equivalentTo"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder @@ -372215,9 +389029,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019394 name: Senior-Boichis syndrome def: "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." [Orphanet:84081] +subset: gard_rare {source="GARD:16730"} subset: ordo_disease {source="Orphanet:84081"} synonym: "Boichis disease" EXACT [Orphanet:84081] synonym: "nephronophthisis-hepatic fibrosis syndrome" EXACT [Orphanet:84081] +xref: GARD:16730 {source="Orphanet:84081"} xref: Orphanet:84081 {source="MONDO:equivalentTo"} xref: SCTID:717187000 {source="MONDO:equivalentTo"} xref: UMLS:CN206093 {source="MONDO:equivalentTo"} @@ -372227,12 +389043,14 @@ is_a: MONDO:0015962 {source="Orphanet:84081"} ! inherited renal tubular disease id: MONDO:0019395 name: Hinman syndrome def: "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." [Orphanet:84085] +subset: gard_rare {source="GARD:19047"} subset: ordo_disease {source="Orphanet:84085"} synonym: "HAS" EXACT ABBREVIATION [Orphanet:84085] synonym: "Hinman-Allen syndrome" EXACT [Orphanet:84085] synonym: "HS" EXACT ABBREVIATION [Orphanet:84085] synonym: "non-neurogenic neurogenic bladder" EXACT [Orphanet:84085] synonym: "occult neuropathic bladder" EXACT [Orphanet:84085] +xref: GARD:19047 {source="Orphanet:84085"} xref: ICD10CM:N32.8 {source="Orphanet:84085/ntbt", source="Orphanet:84085"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:84085 {source="MONDO:equivalentTo"} @@ -372246,8 +389064,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare id: MONDO:0019396 name: collagen type III glomerulopathy def: "A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." [https://orcid.org/0000-0001-5208-3432, Orphanet:84087] +subset: gard_rare {source="GARD:19048"} subset: ordo_disease {source="Orphanet:84087"} synonym: "Collagenofibrotic glomerulopathy" EXACT [Orphanet:84087] +xref: GARD:19048 {source="Orphanet:84087"} xref: ICD10CM:N07.6 {source="Orphanet:84087/ntbt", source="Orphanet:84087"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:84087 {source="MONDO:equivalentTo"} @@ -372268,8 +389088,10 @@ is_a: MONDO:0019046 {source="Orphanet:84096"} ! leukodystrophy [Term] id: MONDO:0019398 name: desmin-related myopathy with Mallory body-like inclusions +subset: gard_rare {source="GARD:16732"} subset: ordo_disease {source="Orphanet:84132"} synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132] +xref: GARD:16732 {source="Orphanet:84132"} xref: ICD10CM:G71.8 {source="Orphanet:84132", source="Orphanet:84132/attributed", source="Orphanet:84132/ntbt"} xref: Orphanet:84132 {source="MONDO:equivalentTo"} is_a: MONDO:0011271 ! rigid spine muscular dystrophy 1 @@ -372281,6 +389103,7 @@ property_value: confidence "1.4091991999999998" xsd:double id: MONDO:0019399 name: Isaac syndrome def: "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." [Orphanet:84142] +subset: gard_rare {source="GARD:6793"} subset: ordo_disease {source="Orphanet:84142"} synonym: "acquired neuromyotonia" EXACT [Orphanet:84142] synonym: "continuous muscle fiber activity syndrome" EXACT [Orphanet:84142] @@ -372291,6 +389114,7 @@ synonym: "Isaacs' syndrome" RELATED [GARD:0006793] synonym: "neuromyotonia" RELATED [GARD:0006793] synonym: "peripheral nerve hyperexcitability" EXACT [Orphanet:84142] synonym: "Quantal squander syndrome" EXACT [Orphanet:84142] +xref: GARD:6793 {source="Orphanet:84142"} xref: ICD10CM:G71.1 {source="Orphanet:84142/ntbt", source="Orphanet:84142"} xref: Orphanet:84142 {source="MONDO:equivalentTo"} xref: SCTID:305719002 {source="MONDO:equivalentTo"} @@ -372324,6 +389148,7 @@ is_a: MONDO:0044765 {source="https://orcid.org/0000-0001-5208-3432"} ! steroid-r id: MONDO:0019402 name: beta thalassemia def: "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." [Orphanet:848] +subset: gard_rare {source="GARD:871"} subset: ordo_disease {source="Orphanet:848"} synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871] synonym: "Beta thalassemia minor" RELATED [GARD:0000871] @@ -372333,6 +389158,7 @@ synonym: "thalassemia major" RELATED [NCIT:C34375] synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871] synonym: "Thalassemias, beta-" RELATED [GARD:0000871] xref: DOID:12241 {source="MONDO:equivalentTo"} +xref: GARD:871 {source="Orphanet:848"} xref: ICD10CM:D56.1 {source="Orphanet:848/specific", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"} xref: ICD9:282.44 {source="DOID:12241"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -372358,6 +389184,7 @@ id: MONDO:0019403 name: congenital dyserythropoietic anemia def: "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." [Orphanet:85] subset: disease_grouping +subset: gard_rare {source="GARD:1999"} subset: ordo_group_of_disorders {source="Orphanet:85"} synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120] synonym: "CDA" EXACT ABBREVIATION [Orphanet:85] @@ -372365,6 +389192,7 @@ synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 [] synonym: "congenital dyshaematopoietic anemia" EXACT [DOID:1338] synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999] xref: DOID:1338 {source="MONDO:equivalentTo"} +xref: GARD:1999 {source="Orphanet:85"} xref: ICD10CM:D64.4 {source="Orphanet:85/specific", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000742 {source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} @@ -372384,11 +389212,12 @@ id: MONDO:0019404 name: perineurioma def: "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." [NCIT:P378] subset: disease_grouping -subset: gard_rare {source="GARD:0012698"} +subset: gard_rare {source="GARD:12698"} subset: ordo_group_of_disorders {source="Orphanet:85102"} synonym: "perineurioma" EXACT [NCIT:C4973] synonym: "soft tissue perineurioma" RELATED [DOID:4697, NCIT:C6912] xref: DOID:4697 {source="MONDO:equivalentTo"} +xref: GARD:12698 {source="Orphanet:85102"} xref: ICD10CM:C47.9 {source="Orphanet:85102/ntbt", source="Orphanet:85102"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9571/0 {source="NCIT:C4973"} @@ -372408,11 +389237,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12698/perine id: MONDO:0019405 name: facial onset sensory and motor neuronopathy def: "Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." [Orphanet:85162] -subset: gard_rare {source="GARD:0012036"} +subset: gard_rare {source="GARD:12036"} subset: ordo_disease {source="Orphanet:85162"} synonym: "facial onset sensorimotor neuronopathy syndrome" RELATED [GARD:0012036] synonym: "facial onset sensory and motor neuronopathy syndrome" RELATED [GARD:0012036] synonym: "FOSMN syndrome" EXACT [Orphanet:85162] +xref: GARD:12036 {source="Orphanet:85162"} xref: ICD10CM:G60.0 {source="Orphanet:85162/attributed", source="Orphanet:85162/ntbt", source="Orphanet:85162"} xref: Orphanet:85162 {source="MONDO:equivalentTo"} xref: SCTID:723306004 {source="MONDO:equivalentTo"} @@ -372424,7 +389254,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12036/facial id: MONDO:0019406 name: craniofacial conodysplasia def: "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." [Orphanet:85168] +subset: gard_rare {source="GARD:19049"} subset: ordo_malformation_syndrome {source="Orphanet:85168"} +xref: GARD:19049 {source="Orphanet:85168"} xref: ICD10CM:Q87.5 {source="Orphanet:85168/attributed", source="Orphanet:85168/ntbt", source="Orphanet:85168"} xref: Orphanet:85168 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia @@ -372433,12 +389265,14 @@ is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia id: MONDO:0019407 name: microcephalic osteodysplastic dysplasia, Saul-Wilson type def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." [ECO:0007645, PMID:30290151] +subset: gard_rare {source="GARD:16736"} subset: ordo_disease {source="Orphanet:85172"} synonym: "microcephalic osteodysplastic dysplasia" EXACT [OMIM:618150] synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673] synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146, OMIM:618150] synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150] xref: DOID:0111673 {source="MONDO:equivalentTo"} +xref: GARD:16736 {source="Orphanet:85172"} xref: ICD10CM:Q78.8 {source="Orphanet:85172", source="Orphanet:85172/attributed", source="Orphanet:85172/ntbt"} xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: Orphanet:85172 {source="MONDO:equivalentTo", source="DOID:0111673"} @@ -372452,9 +389286,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019408 name: Astley-Kendall dysplasia def: "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." [Orphanet:85175] +subset: gard_rare {source="GARD:19050"} subset: ordo_malformation_syndrome {source="Orphanet:85175"} synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220] synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220] +xref: GARD:19050 {source="Orphanet:85175"} xref: ICD10CM:Q77.3 {source="Orphanet:85175/attributed", source="Orphanet:85175/ntbt", source="Orphanet:85175"} xref: MESH:C535392 {source="MONDO:equivalentTo"} xref: Orphanet:85175 {source="MONDO:equivalentTo"} @@ -372466,6 +389302,7 @@ is_a: MONDO:0019701 {source="MESH:C535392", source="Orphanet:85175"} ! chondrody id: MONDO:0019409 name: idiopathic juvenile osteoporosis def: "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age." [Orphanet:85193] +subset: gard_rare {source="GARD:15218", source="GARD:6760"} subset: ordo_malformation_syndrome {source="Orphanet:85193"} synonym: "idiopathic juvenile osteoporosis" EXACT [OMIM:259750] synonym: "idiopathic osteoporosis" EXACT [DOID:12559] @@ -372475,6 +389312,8 @@ synonym: "osteoporosis, juvenile" RELATED [OMIM:259750] synonym: "Paediatric osteoporosis" EXACT OMO:0003005 [] synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996] xref: DOID:12559 {source="MONDO:equivalentTo"} +xref: GARD:15218 {source="OMIM:259750"} +xref: GARD:6760 {source="Orphanet:85193"} xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C537700 {source="MONDO:equivalentTo"} xref: NCIT:C119996 {source="MONDO:equivalentTo"} @@ -372511,7 +389350,9 @@ consider: MONDO:0018298 id: MONDO:0019411 name: genochondromatosis type 1 def: "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." [Orphanet:85197] +subset: gard_rare {source="GARD:16741"} subset: ordo_disease {source="Orphanet:85197"} +xref: GARD:16741 {source="Orphanet:85197"} xref: ICD10CM:Q78.4 {source="Orphanet:85197/attributed", source="Orphanet:85197/ntbt", source="Orphanet:85197"} xref: Orphanet:85197 {source="MONDO:equivalentTo"} xref: UMLS:C1300229 {source="Orphanet:85197/e", source="Orphanet:85197"} @@ -372523,7 +389364,9 @@ property_value: confidence "1.7906976744186043" xsd:double id: MONDO:0019412 name: dysspondyloenchondromatosis def: "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." [Orphanet:85198] +subset: gard_rare {source="GARD:19051"} subset: ordo_malformation_syndrome {source="Orphanet:85198"} +xref: GARD:19051 {source="Orphanet:85198"} xref: ICD10CM:Q78.4 {source="Orphanet:85198/attributed", source="Orphanet:85198/ntbt", source="Orphanet:85198"} xref: Orphanet:85198 {source="MONDO:equivalentTo"} xref: SCTID:722434004 {source="MONDO:equivalentTo"} @@ -372535,9 +389378,11 @@ relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:85198"} ! obso id: MONDO:0019413 name: ischio-vertebral syndrome def: "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." [Orphanet:85200] +subset: gard_rare {source="GARD:19052"} subset: ordo_malformation_syndrome {source="Orphanet:85200"} synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200] synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200] +xref: GARD:19052 {source="Orphanet:85200"} xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="Orphanet:85200/attributed", source="Orphanet:85200/ntbt"} xref: Orphanet:85200 {source="MONDO:equivalentTo"} xref: SCTID:715654001 {source="MONDO:equivalentTo"} @@ -372553,8 +389398,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019414 name: BRESEK syndrome def: "A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." [Orphanet:85284] +subset: gard_rare {source="GARD:16746"} subset: ordo_malformation_syndrome {source="Orphanet:85284"} synonym: "BRESHECK syndrome" EXACT [Orphanet:85284] +xref: GARD:16746 {source="Orphanet:85284"} xref: ICD10CM:Q87.8 {source="Orphanet:85284/attributed", source="Orphanet:85284/ntbt", source="Orphanet:85284"} xref: MESH:C564519 {source="MONDO:equivalentTo"} xref: Orphanet:85284 {source="MONDO:equivalentTo"} @@ -372570,9 +389417,10 @@ property_value: confidence "2.323076923076923" xsd:double id: MONDO:0019415 name: fetal and neonatal alloimmune thrombocytopenia def: "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." [https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia] -subset: gard_rare {source="GARD:0002295"} +subset: gard_rare {source="GARD:2295"} subset: ordo_disease {source="Orphanet:853"} synonym: "NAIT" EXACT ABBREVIATION [Orphanet:853] +xref: GARD:2295 {source="Orphanet:853"} xref: ICD10CM:P61.0 {source="Orphanet:853/ntbt", source="MONDO:relatedTo", source="Orphanet:853"} xref: Orphanet:853 {source="MONDO:equivalentTo"} xref: SCTID:240305000 {source="MONDO:equivalentTo"} @@ -372585,7 +389433,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2295/fetal-a id: MONDO:0019416 name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome def: "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." [Orphanet:85317] +subset: gard_rare {source="GARD:19053"} subset: ordo_malformation_syndrome {source="Orphanet:85317"} +xref: GARD:19053 {source="Orphanet:85317"} xref: ICD10CM:Q87.8 {source="Orphanet:85317", source="Orphanet:85317/attributed", source="Orphanet:85317/ntbt"} xref: Orphanet:85317 {source="MONDO:equivalentTo"} xref: UMLS:CN206172 {source="MONDO:equivalentTo"} @@ -372608,7 +389458,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019418 name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome def: "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." [Orphanet:85319] +subset: gard_rare {source="GARD:19054"} subset: ordo_malformation_syndrome {source="Orphanet:85319"} +xref: GARD:19054 {source="Orphanet:85319"} xref: ICD10CM:Q87.8 {source="Orphanet:85319/attributed", source="Orphanet:85319/ntbt", source="Orphanet:85319"} xref: Orphanet:85319 {source="MONDO:equivalentTo"} xref: UMLS:CN206173 {source="MONDO:equivalentTo"} @@ -372620,8 +389472,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019419 name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome def: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome." [Orphanet:85320] +subset: gard_rare {source="GARD:19055"} subset: ordo_malformation_syndrome {source="Orphanet:85320"} synonym: "Johnson syndrome" EXACT [Orphanet:85320] +xref: GARD:19055 {source="Orphanet:85320"} xref: ICD10CM:Q87.8 {source="Orphanet:85320", source="Orphanet:85320/attributed", source="Orphanet:85320/ntbt"} xref: Orphanet:85320 {source="MONDO:equivalentTo"} xref: SCTID:719825000 {source="MONDO:equivalentTo"} @@ -372633,7 +389487,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019420 name: X-linked intellectual disability, Pai type def: "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." [Orphanet:85322] +subset: gard_rare {source="GARD:19056"} subset: ordo_malformation_syndrome {source="Orphanet:85322"} +xref: GARD:19056 {source="Orphanet:85322"} xref: ICD10CM:Q87.8 {source="Orphanet:85322/attributed", source="Orphanet:85322/ntbt", source="Orphanet:85322"} xref: Orphanet:85322 {source="MONDO:equivalentTo"} xref: SCTID:719011002 {source="MONDO:equivalentTo"} @@ -372646,7 +389502,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019421 name: X-linked intellectual disability, Seemanova type def: "X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." [Orphanet:85323] +subset: gard_rare {source="GARD:19057"} subset: ordo_disease {source="Orphanet:85323"} +xref: GARD:19057 {source="Orphanet:85323"} xref: ICD10CM:Q87.8 {source="Orphanet:85323", source="Orphanet:85323/attributed", source="Orphanet:85323/ntbt"} xref: Orphanet:85323 {source="MONDO:equivalentTo"} xref: SCTID:718897009 {source="MONDO:equivalentTo"} @@ -372658,7 +389516,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019422 name: X-linked intellectual disability, Stevenson type def: "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." [Orphanet:85325] +subset: gard_rare {source="GARD:19058"} subset: ordo_malformation_syndrome {source="Orphanet:85325"} +xref: GARD:19058 {source="Orphanet:85325"} xref: ICD10CM:Q87.8 {source="Orphanet:85325/attributed", source="Orphanet:85325/ntbt", source="Orphanet:85325"} xref: Orphanet:85325 {source="MONDO:equivalentTo"} xref: SCTID:718909001 {source="MONDO:equivalentTo"} @@ -372671,7 +389531,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019423 name: X-linked intellectual disability, Stoll type def: "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." [Orphanet:85326] +subset: gard_rare {source="GARD:19059"} subset: ordo_malformation_syndrome {source="Orphanet:85326"} +xref: GARD:19059 {source="Orphanet:85326"} xref: ICD10CM:Q87.8 {source="Orphanet:85326", source="Orphanet:85326/attributed", source="Orphanet:85326/ntbt"} xref: Orphanet:85326 {source="MONDO:equivalentTo"} xref: SCTID:718911005 {source="MONDO:equivalentTo"} @@ -372684,7 +389546,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019424 name: X-linked intellectual disability-acromegaly-hyperactivity syndrome def: "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." [Orphanet:85327] +subset: gard_rare {source="GARD:19060"} subset: ordo_disease {source="Orphanet:85327"} +xref: GARD:19060 {source="Orphanet:85327"} xref: ICD10CM:Q87.8 {source="Orphanet:85327", source="Orphanet:85327/attributed", source="Orphanet:85327/ntbt"} xref: Orphanet:85327 {source="MONDO:equivalentTo"} xref: UMLS:CN227631 {source="MONDO:equivalentTo"} @@ -372716,7 +389580,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019427 name: X-linked neurodegenerative syndrome, Bertini type def: "X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." [Orphanet:85334] +subset: gard_rare {source="GARD:19061"} subset: ordo_disease {source="Orphanet:85334"} +xref: GARD:19061 {source="Orphanet:85334"} xref: ICD10CM:G31.8 {source="Orphanet:85334", source="Orphanet:85334/attributed", source="Orphanet:85334/ntbt"} xref: Orphanet:85334 {source="MONDO:equivalentTo"} xref: SCTID:718849008 {source="MONDO:equivalentTo"} @@ -372728,7 +389594,9 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85334"} ! X-li id: MONDO:0019428 name: fried syndrome def: "A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." [Orphanet:85335] +subset: gard_rare {source="GARD:16753"} subset: ordo_malformation_syndrome {source="Orphanet:85335"} +xref: GARD:16753 {source="Orphanet:85335"} xref: ICD10CM:Q87.8 {source="Orphanet:85335/attributed", source="Orphanet:85335/ntbt", source="Orphanet:85335"} xref: Orphanet:85335 {source="MONDO:equivalentTo"} xref: SCTID:718848000 {source="MONDO:equivalentTo"} @@ -372745,7 +389613,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019429 name: X-linked neurodegenerative syndrome, Hamel type def: "An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." [Orphanet:85336] +subset: gard_rare {source="GARD:19062"} subset: ordo_disease {source="Orphanet:85336"} +xref: GARD:19062 {source="Orphanet:85336"} xref: ICD10CM:G31.8 {source="Orphanet:85336/attributed", source="Orphanet:85336/ntbt", source="Orphanet:85336"} xref: Orphanet:85336 {source="MONDO:equivalentTo"} xref: SCTID:718847005 {source="MONDO:equivalentTo"} @@ -372757,7 +389627,9 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85336"} ! X-li id: MONDO:0019430 name: X-linked intellectual disability-ataxia-apraxia syndrome def: "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." [Orphanet:85338] +subset: gard_rare {source="GARD:19063"} subset: ordo_disease {source="Orphanet:85338"} +xref: GARD:19063 {source="Orphanet:85338"} xref: ICD10CM:G31.8 {source="Orphanet:85338", source="Orphanet:85338/attributed", source="Orphanet:85338/ntbt"} xref: Orphanet:85338 {source="MONDO:equivalentTo"} xref: UMLS:CN227633 {source="MONDO:equivalentTo"} @@ -372769,8 +389641,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019431 name: primitive portal vein thrombosis def: "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." [Orphanet:854] +subset: gard_rare {source="GARD:18707"} subset: ordo_clinical_syndrome {source="Orphanet:854"} synonym: "non-cirrhotic portal vein thrombosis" EXACT [Orphanet:854] +xref: GARD:18707 {source="Orphanet:854"} xref: ICD10CM:I81 {source="Orphanet:854", source="MONDO:relatedTo", source="Orphanet:854/e"} xref: MedDRA:10036206 {source="Orphanet:854", source="Orphanet:854/e"} xref: Orphanet:854 {source="MONDO:equivalentTo"} @@ -372782,10 +389656,12 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare id: MONDO:0019432 name: rheumatoid factor-negative juvenile idiopathic arthritis def: "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." [Orphanet:85408] +subset: gard_rare {source="GARD:3931"} subset: ordo_disease {source="Orphanet:85408"} synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408] synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408] synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408] +xref: GARD:3931 {source="Orphanet:85408"} xref: ICD10CM:M08.3 {source="Orphanet:85408", source="Orphanet:85408/ntbt"} xref: Orphanet:85408 {source="MONDO:equivalentTo"} is_a: MONDO:0018456 {source="Orphanet:85408"} ! polyarticular juvenile idiopathic arthritis @@ -372794,12 +389670,14 @@ is_a: MONDO:0018456 {source="Orphanet:85408"} ! polyarticular juvenile idiopathi id: MONDO:0019433 name: oligoarticular juvenile idiopathic arthritis def: "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." [Orphanet:85410] +subset: gard_rare {source="GARD:4261"} subset: ordo_disease {source="Orphanet:85410"} synonym: "Oligoarticular JIA" EXACT [Orphanet:85410] synonym: "Pauciarticular chronic arthritis" EXACT [Orphanet:85410] synonym: "Pauciarticular JIA" EXACT [NCIT:C119032] synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032] xref: EFO:1002019 {source="MONDO:equivalentTo"} +xref: GARD:4261 {source="Orphanet:85410"} xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="Orphanet:85410/e"} xref: MESH:C536312 {source="MONDO:equivalentTo"} xref: NCIT:C119032 {source="MONDO:equivalentTo"} @@ -372812,7 +389690,7 @@ is_a: MONDO:0011429 {source="MESH:C536312", source="NCIT:C119032", source="Orpha id: MONDO:0019434 name: systemic-onset juvenile idiopathic arthritis def: "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." [Orphanet:85414] -subset: gard_rare {source="GARD:0010966"} +subset: gard_rare {source="GARD:10966"} subset: ordo_disease {source="Orphanet:85414"} synonym: "sJIA" EXACT [NCIT:C119031] synonym: "SoJIA" EXACT [PMID:23827249] @@ -372824,6 +389702,7 @@ synonym: "systemic onset juvenile rheumatoid arthritis" RELATED [GARD:0010966] synonym: "systemic polyarthritis" EXACT [Orphanet:85414] synonym: "systemic-onset JIA" EXACT [Orphanet:85414] xref: EFO:1001999 {source="MONDO:equivalentTo"} +xref: GARD:10966 {source="Orphanet:85414"} xref: ICD10CM:M08.2 {source="Orphanet:85414", source="Orphanet:85414/e"} xref: MESH:C565798 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C119031 {source="MONDO:equivalentTo"} @@ -372840,6 +389719,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10966/system id: MONDO:0019435 name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." [NCIT:C119034] +subset: gard_rare {source="GARD:19064"} subset: ordo_disease {source="Orphanet:85435"} synonym: "juvenile idiopathic rheumatoid factor-positive polyarthritis" EXACT [Orphanet:85435] synonym: "polyarthritis with rheumatoid factor" EXACT [Orphanet:85435] @@ -372847,6 +389727,7 @@ synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034] synonym: "rheumatoid factor-positive polyarticular JIA" EXACT [Orphanet:85435] +xref: GARD:19064 {source="Orphanet:85435"} xref: ICD10CM:M08.0 {source="Orphanet:85435/ntbt", source="Orphanet:85435"} xref: NCIT:C119034 {source="MONDO:equivalentTo"} xref: Orphanet:85435 {source="MONDO:equivalentTo"} @@ -372857,10 +389738,12 @@ is_a: MONDO:0018456 {source="Orphanet:85435"} ! polyarticular juvenile idiopathi id: MONDO:0019436 name: psoriasis-related juvenile idiopathic arthritis def: "Childhood arthritis typically associated with psoriasis." [NCIT:P378] +subset: gard_rare {source="GARD:10970"} subset: ordo_disease {source="Orphanet:85436"} synonym: "JPsA" EXACT [NCIT:C114361] synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436] synonym: "psoriasis-related JIA" EXACT [Orphanet:85436] +xref: GARD:10970 {source="Orphanet:85436"} xref: ICD10EXP:L40.5+ {source="Orphanet:85436", source="Orphanet:85436/ntbt"} xref: ICD10EXP:M09.0* {source="Orphanet:85436", source="Orphanet:85436/ntbt"} xref: NCIT:C114361 {source="MONDO:equivalentTo"} @@ -372875,7 +389758,7 @@ is_a: MONDO:0011849 {source="NCIT:C114361"} ! psoriatic arthritis id: MONDO:0019437 name: enthesitis-related juvenile idiopathic arthritis def: "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis] -subset: gard_rare {source="GARD:0010969"} +subset: gard_rare {source="GARD:10969"} subset: ordo_malformation_syndrome {source="Orphanet:85438"} synonym: "enthesitis related arthritis, juvenile" RELATED [GARD:0010969] synonym: "enthesitis-related arthritis" RELATED [GARD:0010969] @@ -372883,6 +389766,7 @@ synonym: "enthesitis-related JIA" EXACT [Orphanet:85438] synonym: "era" EXACT [Orphanet:85438] synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969] synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969] +xref: GARD:10969 {source="Orphanet:85438"} xref: ICD10CM:M08.8 {source="Orphanet:85438", source="Orphanet:85438/ntbt"} xref: NCIT:C119024 {source="MONDO:equivalentTo"} xref: Orphanet:85438 {source="MONDO:equivalentTo"} @@ -372897,7 +389781,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10969/enthes id: MONDO:0019438 name: AL amyloidosis def: "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." [Orphanet:85443] -subset: gard_rare +subset: gard_rare {source="GARD:5797"} subset: ordo_disease {source="Orphanet:85443"} synonym: "amyloidosis AL" RELATED [GARD:0005797] synonym: "amyloidosis primary systemic" RELATED [GARD:0005797] @@ -372910,6 +389794,7 @@ synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797] synonym: "primary systemic amyloidosis" RELATED [GARD:0005797] synonym: "systemic AL amyloidsis" RELATED [GARD:0005797] xref: DOID:0080933 {source="MONDO:equivalentTo"} +xref: GARD:5797 {source="Orphanet:85443"} xref: ICD10CM:E85.9 {source="Orphanet:85443/ntbt", source="Orphanet:85443", source="Orphanet:85443/index"} xref: MedDRA:10036673 {source="Orphanet:85443", source="Orphanet:85443/e"} xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} @@ -372928,7 +389813,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019439 name: AA amyloidosis def: "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." [Orphanet:85445] -subset: gard_rare {source="GARD:0010560"} +subset: gard_rare {source="GARD:10560"} subset: ordo_disease {source="Orphanet:85445"} synonym: "amyloid A amyloidosis" RELATED [GARD:0010560] synonym: "amyloidosis AA" RELATED [GARD:0010560] @@ -372936,6 +389821,7 @@ synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445] synonym: "reactive amyloidosis" EXACT [Orphanet:85445] synonym: "secondary amyloidosis" EXACT [Orphanet:85445] xref: DOID:0080936 {source="MONDO:equivalentTo"} +xref: GARD:10560 {source="Orphanet:85445"} xref: ICD10CM:E85.3 {source="Orphanet:85445", source="Orphanet:85445/e"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039811 {source="Orphanet:85445", source="Orphanet:85445/e"} @@ -372954,7 +389840,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10560/amyloi [Term] id: MONDO:0019440 name: wild type ABeta2M amyloidosis -subset: gard_rare +subset: gard_rare {source="GARD:19065"} subset: ordo_disease {source="Orphanet:85446"} synonym: "ABeta2Mwt amyloidosis" EXACT [Orphanet:85446] synonym: "amyloidosis beta2m" RELATED [GARD:0010563] @@ -372964,6 +389850,7 @@ synonym: "dialysis-related amyloidosis" EXACT [GARD:0010563, Orphanet:85446] synonym: "dialysis-related arthropathy" EXACT [Orphanet:85446] synonym: "DRA" RELATED ABBREVIATION [GARD:0010563] synonym: "wild type ABeta2-microglobulinic amyloidosis" EXACT [Orphanet:85446] +xref: GARD:19065 {source="Orphanet:85446"} xref: ICD10CM:E85.3 {source="Orphanet:85446/ntbt", source="Orphanet:85446"} xref: Orphanet:85446 {source="MONDO:equivalentTo"} xref: SCTID:32599008 {source="MONDO:equivalentTo"} @@ -372976,6 +389863,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10563/amyloi id: MONDO:0019441 name: ATTRV122I amyloidosis def: "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." [Orphanet:85451] +subset: gard_rare {source="GARD:16755"} subset: ordo_disease {source="Orphanet:85451"} synonym: "ATTR cardiomyopathy" EXACT [Orphanet:85451] synonym: "ATTRV122I-related amyloidosis" EXACT [Orphanet:85451] @@ -372983,6 +389871,7 @@ synonym: "transthyretin amyloid cardiopathy" EXACT [Orphanet:85451] synonym: "transthyretin-related familial amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related cardiac amyloidosis" EXACT [Orphanet:85451] +xref: GARD:16755 {source="Orphanet:85451"} xref: ICD10EXP:E85.4+ {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} xref: ICD10EXP:I43.1* {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} xref: Orphanet:85451 {source="MONDO:equivalentTo"} @@ -373001,6 +389890,7 @@ replaced_by: MONDO:0005715 id: MONDO:0019443 name: dextro-looped transposition of the great arteries def: "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." [Orphanet:860] +subset: gard_rare {source="GARD:5476"} subset: ordo_morphological_anomaly {source="Orphanet:860"} synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [DOID:0060770, Orphanet:860] @@ -373009,6 +389899,7 @@ synonym: "DTGA" EXACT ABBREVIATION [MONDO:Lexical] synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860] xref: DOID:0060770 {source="MONDO:equivalentTo"} +xref: GARD:5476 {source="Orphanet:860"} xref: ICD10CM:Q20.3 {source="DOID:0060770", source="Orphanet:860/ntbt", source="Orphanet:860/inclusion", source="Orphanet:860"} xref: OMIMPS:608808 {source="DOID:0060770", source="MONDO:equivalentObsolete"} xref: Orphanet:860 {source="DOID:0060770", source="MONDO:equivalentTo"} @@ -373022,6 +389913,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608808"} ! inheri id: MONDO:0019444 name: trichinellosis def: "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." [Orphanet:863] +subset: gard_rare {source="GARD:5250"} subset: ordo_disease {source="Orphanet:863"} synonym: "Human trichinellosis" RELATED [GARD:0005250] synonym: "infection with Trichinella" RELATED [GARD:0005250] @@ -373033,6 +389925,7 @@ synonym: "trichiniasis" RELATED [GARD:0005250] synonym: "trichinosis" EXACT [MONDO:0005992, Orphanet:863] xref: DOID:9784 {source="MONDO:equivalentTo", source="EFO:0007520"} xref: EFO:0007520 {source="MONDO:equivalentTo"} +xref: GARD:5250 {source="Orphanet:863"} xref: ICD10CM:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e", source="DOID:9784"} xref: ICD9:124 {source="DOID:9784"} xref: MedDRA:10044608 {source="Orphanet:863", source="Orphanet:863/e"} @@ -373059,8 +389952,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019445 name: trichofolliculoma def: "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." [Orphanet:864] -subset: gard_rare {source="GARD:0005263"} +subset: gard_rare {source="GARD:5263"} subset: ordo_disease {source="Orphanet:864"} +xref: GARD:5263 {source="Orphanet:864"} xref: ICDO:8101/0 {source="NCIT:C4112"} xref: MedDRA:10044611 {source="Orphanet:864", source="Orphanet:864/e"} xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="Orphanet:864/e"} @@ -373077,8 +389971,10 @@ id: MONDO:0019446 name: localized lichen myxedematosus def: "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." [Orphanet:86795] subset: disease_grouping +subset: gard_rare {source="GARD:7321"} subset: ordo_group_of_disorders {source="Orphanet:86795"} synonym: "papular mucinosis" EXACT [Orphanet:86795] +xref: GARD:7321 {source="Orphanet:86795"} xref: ICD10CM:L98.5 {source="Orphanet:86795", source="Orphanet:86795/ntbt"} xref: Orphanet:86795 {source="MONDO:equivalentTo"} xref: UMLS:C0263390 {source="Orphanet:86795", source="MONDO:directSiblingOf"} @@ -373090,8 +389986,10 @@ intersection_of: has_characteristic PATO:0000627 ! localized id: MONDO:0019447 name: atypical lichen myxedematosus def: "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." [Orphanet:86797] +subset: gard_rare {source="GARD:19066"} subset: ordo_disease {source="Orphanet:86797"} synonym: "Intermediate lichen myxedematosus" EXACT [Orphanet:86797] +xref: GARD:19066 {source="Orphanet:86797"} xref: ICD10CM:L98.5 {source="Orphanet:86797", source="Orphanet:86797/ntbt"} xref: Orphanet:86797 {source="MONDO:equivalentTo"} xref: SCTID:725148000 {source="MONDO:equivalentTo"} @@ -373102,6 +390000,7 @@ is_a: MONDO:0018432 {source="Orphanet:86797"} ! lichen myxedematosus id: MONDO:0019448 name: benign adult familial myoclonic epilepsy def: "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." [Orphanet:86814] +subset: gard_rare {source="GARD:16758"} subset: ordo_disease {source="Orphanet:86814"} synonym: "ADCME" EXACT ABBREVIATION [Orphanet:86814] synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [Orphanet:86814] @@ -373112,6 +390011,7 @@ synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814] synonym: "FCMTE" EXACT ABBREVIATION [Orphanet:86814] xref: DOID:0111689 +xref: GARD:16758 {source="Orphanet:86814"} xref: ICD10CM:G40.3 {source="Orphanet:86814", source="Orphanet:86814/attributed", source="Orphanet:86814/ntbt"} xref: Orphanet:86814 {source="MONDO:equivalentTo"} xref: SCTID:717225001 {source="MONDO:equivalentTo"} @@ -373124,7 +390024,9 @@ is_a: MONDO:0020073 {source="DOID:0111689", source="Orphanet:86814"} ! adolescen id: MONDO:0019449 name: lissencephaly type 3-familial fetal akinesia sequence syndrome def: "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." [Orphanet:86821] +subset: gard_rare {source="GARD:19067"} subset: ordo_malformation_syndrome {source="Orphanet:86821"} +xref: GARD:19067 {source="Orphanet:86821"} xref: ICD10CM:Q04.3 {source="Orphanet:86821/attributed", source="Orphanet:86821/ntbt", source="Orphanet:86821"} xref: Orphanet:86821 {source="MONDO:equivalentTo"} xref: SCTID:718719001 {source="MONDO:equivalentTo"} @@ -373136,8 +390038,10 @@ id: MONDO:0019450 name: lissencephaly with cerebellar hypoplasia def: "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." [Orphanet:86823] subset: disease_grouping +subset: gard_rare {source="GARD:19068"} subset: ordo_group_of_disorders {source="Orphanet:86823"} synonym: "LCH" EXACT ABBREVIATION [Orphanet:86823] +xref: GARD:19068 {source="Orphanet:86823"} xref: ICD10CM:Q04.3 {source="Orphanet:86823", source="Orphanet:86823/attributed", source="Orphanet:86823/ntbt"} xref: Orphanet:86823 {source="MONDO:equivalentTo"} xref: SCTID:715817007 {source="MONDO:equivalentTo"} @@ -373148,7 +390052,7 @@ is_a: MONDO:0018838 {source="Orphanet:86823"} ! lissencephaly spectrum disorders id: MONDO:0019451 name: chronic neutrophilic leukemia def: "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." [NCIT:C3179] -subset: gard_rare {source="GARD:0010585"} +subset: gard_rare {source="GARD:10585"} subset: ordo_disease {source="Orphanet:86829"} synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179] synonym: "CNL" RELATED ABBREVIATION [GARD:0010585, ONCOTREE:CNL] @@ -373156,6 +390060,7 @@ synonym: "neutrophilic leukaemia" EXACT OMO:0003005 [] synonym: "neutrophilic leukemia" EXACT [NCIT:C3179] xref: DOID:0080187 {source="MONDO:equivalentTo"} xref: EFO:1000179 {source="MONDO:equivalentTo"} +xref: GARD:10585 {source="Orphanet:86829"} xref: ICD10CM:D47.1 {source="Orphanet:86829/ntbt", source="Orphanet:86829"} xref: ICDO:9963/3 {source="NCIT:C3179"} xref: MESH:D015467 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="Orphanet:86829"} @@ -373173,6 +390078,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10585/chroni id: MONDO:0019452 name: myeloproliferative neoplasm, unclassifiable def: "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." [NCIT:C27350] +subset: gard_rare {source="GARD:16764"} subset: ordo_disease {source="Orphanet:86830"} synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350] synonym: "chronic myeloproliferative disorder, unclassifiable" EXACT [NCIT:C27350] @@ -373184,6 +390090,7 @@ synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350] synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830] +xref: GARD:16764 {source="Orphanet:86830"} xref: ICD10CM:D47.1 {source="Orphanet:86830", source="Orphanet:86830/ntbt"} xref: ICDO:9975/3 {source="NCIT:C27350"} xref: NCIT:C27350 {source="MONDO:equivalentTo"} @@ -373196,10 +390103,12 @@ id: MONDO:0019453 name: myelodysplastic syndrome with multilineage dysplasia def: "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." [Orphanet:86836] subset: disease_grouping +subset: gard_rare {source="GARD:19069"} subset: ordo_group_of_disorders {source="Orphanet:86836"} synonym: "MDS-MLD" EXACT [NCIT:C8574] synonym: "RCMD" EXACT ABBREVIATION [NCIT:C8574] synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574] +xref: GARD:19069 {source="Orphanet:86836"} xref: ICD10CM:D46.A {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9985/3 {source="NCIT:C8574"} @@ -373216,6 +390125,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019454 name: myelodysplastic syndrome with excess blasts def: "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." [NCIT:C7506] +subset: gard_rare {source="GARD:19070"} subset: ordo_disease {source="Orphanet:86839"} synonym: "MDS-EB" EXACT [NCIT:C7506] synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506] @@ -373225,6 +390135,7 @@ synonym: "refractory Anaemia with Excess blasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506] synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] xref: EFO:0003811 {source="MONDO:equivalentTo"} +xref: GARD:19070 {source="Orphanet:86839"} xref: ICD10CM:D46.2 {source="Orphanet:86839/ntbt", source="Orphanet:86839"} xref: ICDO:9983/3 {source="NCIT:C7506"} xref: MedDRA:10038270 {source="Orphanet:86839/e", source="Orphanet:86839"} @@ -373243,7 +390154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019455 name: acute panmyelosis with myelofibrosis def: "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." [NCIT:P378] -subset: gard_rare {source="GARD:0011907"} +subset: gard_rare {source="GARD:11907"} subset: ordo_disease {source="Orphanet:86843"} synonym: "acute (malignant) myelofibrosis" EXACT [NCIT:C4344] synonym: "acute (malignant) myelosclerosis" EXACT [NCIT:C4344] @@ -373252,6 +390163,7 @@ synonym: "acute myelofibrosis" EXACT [Orphanet:86843] synonym: "acute myelosclerosis" EXACT [Orphanet:86843] synonym: "acute panmyelosis" EXACT [NCIT:C4344] synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF] +xref: GARD:11907 {source="Orphanet:86843"} xref: ICD10CM:C94.4 {source="Orphanet:86843", source="Orphanet:86843/e"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9931/3 {source="NCIT:C4344"} @@ -373269,6 +390181,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11907/acute- id: MONDO:0019456 name: acute myeloid leukemia with multilineage dysplasia def: "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." [NCIT:P378] +subset: gard_rare {source="GARD:12761"} subset: ordo_disease {source="Orphanet:86845"} synonym: "acute myeloid leukaemia with myelodysplasia-related features" RELATED OMO:0003005 [] synonym: "acute myeloid leukemia with myelodysplasia-related features" RELATED [Orphanet:86845] @@ -373276,6 +390189,7 @@ synonym: "AML with multilineage dysplasia" EXACT [Orphanet:86845] synonym: "AML with myelodysplasia-related features" EXACT [Orphanet:86845] synonym: "De novo acute myeloid leukaemia with multilineage dysplasia" EXACT OMO:0003005 [] synonym: "De novo acute myeloid leukemia with multilineage dysplasia" EXACT [NCIT:C9289] +xref: GARD:12761 {source="Orphanet:86845"} xref: ICDO:9895/3 {source="NCIT:C9289"} xref: NCIT:C9289 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:86845 {source="MONDO:equivalentTo"} @@ -373291,7 +390205,7 @@ id: MONDO:0019457 name: therapy related acute myeloid leukemia and myelodysplastic syndrome def: "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" [NCIT:C25765] subset: disease_grouping -subset: gard_rare {source="GARD:0012762"} +subset: gard_rare {source="GARD:12762"} subset: ordo_group_of_disorders {source="Orphanet:86846"} synonym: "Secondary Acute granulocytic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765] @@ -373308,6 +390222,7 @@ synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765] synonym: "Secondary AGL" EXACT [NCIT:C25765] synonym: "secondary AML" EXACT [Orphanet:86846] synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846] +xref: GARD:12762 {source="Orphanet:86846"} xref: ICD10CM:C92.0 {source="Orphanet:86846", source="Orphanet:86846/ntbt"} xref: NCIT:C25765 {source="MONDO:equivalentTo"} xref: Orphanet:86846 {source="MONDO:equivalentTo"} @@ -373321,6 +390236,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12762/therap id: MONDO:0019458 name: acute basophilic leukemia def: "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." [NCIT:C3164] +subset: gard_rare {source="GARD:19071"} subset: ordo_disease {source="Orphanet:86849"} synonym: "basophilic leukaemia" EXACT OMO:0003005 [] synonym: "basophilic leukemia" EXACT [NCIT:C3164] @@ -373328,6 +390244,7 @@ synonym: "leukaemia basophilic" EXACT OMO:0003005 [] synonym: "leukemia basophilic" EXACT [NCIT:C3164] xref: DOID:0080795 {source="MONDO:equivalentTo"} xref: EFO:0003029 {source="MONDO:equivalentTo"} +xref: GARD:19071 {source="Orphanet:86849"} xref: ICDO:9870/3 {source="NCIT:C3164"} xref: MESH:D015471 {source="Orphanet:86849/e", source="MONDO:equivalentTo", source="Orphanet:86849"} xref: NCIT:C3164 {source="EFO:0003029", source="MONDO:equivalentTo"} @@ -373352,6 +390269,7 @@ id: MONDO:0019460 name: acute leukemia of ambiguous lineage def: "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" [NCIT:C7464] subset: disease_grouping +subset: gard_rare {source="GARD:8638"} subset: ordo_group_of_disorders {source="Orphanet:86851"} synonym: "acute leukaemia of indeterminate lineage" EXACT OMO:0003005 [] synonym: "acute leukaemia of undetermined lineage" RELATED OMO:0003005 [] @@ -373369,6 +390287,7 @@ synonym: "mixed lineage acute leukaemia" EXACT OMO:0003005 [] synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851] synonym: "mixed phenotype acute leukaemia" RELATED OMO:0003005 [] synonym: "mixed phenotype acute leukemia" RELATED [Orphanet:86851] +xref: GARD:8638 {source="Orphanet:86851"} xref: ICD10CM:C95.0 {source="Orphanet:86851/ntbt", source="Orphanet:86851"} xref: MedDRA:10067399 {source="Orphanet:86851", source="Orphanet:86851/e"} xref: MESH:D015456 {source="Orphanet:86851", source="Orphanet:86851/e"} @@ -373384,6 +390303,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019461 name: B-cell prolymphocytic leukemia def: "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." [MESH:D054403] +subset: gard_rare {source="GARD:8223"} subset: ordo_disease {source="Orphanet:86852"} synonym: "B prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753] @@ -373392,6 +390312,7 @@ synonym: "B-PLL" EXACT [Orphanet:86852] synonym: "BPLL" RELATED ABBREVIATION [ONCOTREE:BPLL] xref: DOID:0081041 {source="MONDO:equivalentTo"} xref: EFO:1000102 {source="MONDO:equivalentTo"} +xref: GARD:8223 {source="Orphanet:86852"} xref: ICD10CM:C91.3 {source="Orphanet:86852", source="Orphanet:86852/ntbt"} xref: ICDO:9833/3 {source="NCIT:C4753"} xref: MESH:D054403 {source="Orphanet:86852", source="MONDO:equivalentTo", source="Orphanet:86852/e"} @@ -373411,6 +390332,7 @@ relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyt id: MONDO:0019462 name: splenic marginal zone lymphoma def: "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." [Orphanet:86854] +subset: gard_rare {source="GARD:19072"} subset: ordo_disease {source="Orphanet:86854"} synonym: "marginal zone lymphoma of spleen" EXACT [NCIT:C4663] synonym: "marginal zone lymphoma of the spleen" EXACT [NCIT:C4663] @@ -373423,6 +390345,7 @@ synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663] synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663] xref: DOID:0050750 {source="MONDO:equivalentTo"} xref: EFO:1000550 {source="MONDO:equivalentTo"} +xref: GARD:19072 {source="Orphanet:86854"} xref: ICD10CM:C83.0 {source="Orphanet:86854/ntbt", source="Orphanet:86854"} xref: ICDO:9689/3 {source="NCIT:C4663"} xref: MedDRA:10062113 {source="Orphanet:86854", source="Orphanet:86854/e"} @@ -373436,9 +390359,11 @@ is_a: MONDO:0017604 {source="DOID:0050750", source="EFO:1000550", source="NCIT:C [Term] id: MONDO:0019463 name: non-amyloid monoclonal immunoglobulin deposition disease +subset: gard_rare {source="GARD:19073"} subset: ordo_disease {source="Orphanet:86861"} synonym: "non-amyloid MIDD" EXACT [Orphanet:86861] synonym: "Randall disease" EXACT [Orphanet:86861] +xref: GARD:19073 {source="Orphanet:86861"} xref: ICD10CM:D89.8 {source="Orphanet:86861", source="Orphanet:86861/ntbt"} xref: Orphanet:86861 {source="MONDO:equivalentTo"} xref: UMLS:CN206242 {source="MONDO:equivalentTo"} @@ -373449,11 +390374,13 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:86861"} ! obso id: MONDO:0019464 name: heavy chain disease def: "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." [Orphanet:86864] +subset: gard_rare {source="GARD:19074"} subset: ordo_disease {source="Orphanet:86864"} synonym: "HCD" EXACT ABBREVIATION [NCIT:C3082, Orphanet:86864] synonym: "heavy chain disease" EXACT [NCIT:C3082] xref: DOID:0060125 {source="MONDO:equivalentTo"} xref: EFO:1001341 {source="MONDO:equivalentTo"} +xref: GARD:19074 {source="Orphanet:86864"} xref: ICD10CM:C88.2 {source="Orphanet:86864/btnt", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"} xref: ICD10CM:C88.3 {source="Orphanet:86864/btnt", source="MONDO:relatedTo", source="Orphanet:86864"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -373482,6 +390409,7 @@ relationship: excluded_subClassOf MONDO:0002459 {source="DOID:0060125"} ! type I id: MONDO:0019465 name: nodal marginal zone B-cell lymphoma def: "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." [Orphanet:86867] +subset: gard_rare {source="GARD:19075"} subset: ordo_disease {source="Orphanet:86867"} synonym: "Monocytoid B-cell lymphoma" EXACT [NCIT:C8863] synonym: "NMZL" EXACT ABBREVIATION [ONCOTREE:NMZL, Orphanet:86867] @@ -373489,6 +390417,7 @@ synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863] synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863] synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863] xref: DOID:0080211 {source="MONDO:equivalentTo"} +xref: GARD:19075 {source="Orphanet:86867"} xref: ICD10CM:C83.0 {source="Orphanet:86867", source="Orphanet:86867/ntbt"} xref: MedDRA:10029460 {source="Orphanet:86867", source="Orphanet:86867/e"} xref: NCIT:C8863 {source="DOID:0080211", source="MONDO:equivalentTo"} @@ -373502,10 +390431,11 @@ is_a: MONDO:0017604 {source="DOID:0080211", source="NCIT:C8863", source="ONCOTRE id: MONDO:0019466 name: lymphomatoid granulomatosis def: "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." [Orphanet:86869] -subset: gard_rare {source="GARD:0006943"} +subset: gard_rare {source="GARD:6943"} subset: ordo_disease {source="Orphanet:86869"} synonym: "LYG" EXACT ABBREVIATION [ONCOTREE:LYG, Orphanet:86869] xref: DOID:0081307 {source="MONDO:equivalentTo"} +xref: GARD:6943 {source="Orphanet:86869"} xref: ICD10CM:C83.8 {source="Orphanet:86869", source="Orphanet:86869/ntbt"} xref: ICDO:9766/1 {source="NCIT:C7930"} xref: MedDRA:10025325 {source="Orphanet:86869", source="Orphanet:86869/e"} @@ -373523,7 +390453,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6943/lymphom id: MONDO:0019467 name: CD4+/CD56+ hematodermic neoplasm def: "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." [NCIT:C7203] -subset: gard_rare +subset: gard_rare {source="GARD:10556"} subset: ordo_disease {source="Orphanet:86870"} synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203] synonym: "agranular CD4+ natural Killer cell leukaemia" EXACT OMO:0003005 [] @@ -373540,6 +390470,7 @@ synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orpha synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870] synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203] xref: DOID:0081076 {source="MONDO:equivalentTo"} +xref: GARD:10556 {source="Orphanet:86870"} xref: ICD10CM:C86.4 {source="Orphanet:86870/e", source="Orphanet:86870"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9727/3 {source="NCIT:C7203"} @@ -373558,6 +390489,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10556/blasti id: MONDO:0019468 name: T-cell prolymphocytic leukemia def: "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." [NCIT:C70649] +subset: gard_rare {source="GARD:13731"} subset: ordo_disease {source="Orphanet:86871"} synonym: "chronic T-cell leukaemia" NARROW OMO:0003005 [] synonym: "chronic T-cell leukemia" NARROW DEPRECATED [NCIT:C70649] @@ -373580,6 +390512,7 @@ synonym: "T-PLL" EXACT [Orphanet:86871] synonym: "TPLL" RELATED ABBREVIATION [ONCOTREE:TPLL] xref: DOID:0081042 {source="MONDO:equivalentTo"} xref: EFO:1000560 {source="MONDO:equivalentTo"} +xref: GARD:13731 {source="Orphanet:86871"} xref: ICD10CM:C91.6 {source="Orphanet:86871", source="Orphanet:86871/e"} xref: ICDO:9834/3 {source="NCIT:C4752"} xref: MedDRA:10042985 {source="Orphanet:86871", source="Orphanet:86871/e"} @@ -373602,6 +390535,7 @@ relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell id: MONDO:0019469 name: T-cell large granular lymphocyte leukemia def: "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." [Orphanet:86872] +subset: gard_rare {source="GARD:9812"} subset: ordo_disease {source="Orphanet:86872"} synonym: "large cell granular lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphogenous leukemia" EXACT [NCIT:C4664] @@ -373632,6 +390566,7 @@ synonym: "Tgamma large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664] synonym: "TLGL" RELATED ABBREVIATION [ONCOTREE:TLGL] xref: DOID:0050751 {source="MONDO:equivalentTo"} +xref: GARD:9812 {source="Orphanet:86872"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9768/1 {source="NCIT:C4664"} xref: ICDO:9831/1 {source="NCIT:C4664"} @@ -373657,7 +390592,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019470 name: aggressive NK-cell leukemia def: "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." [NCIT:C8647] -subset: gard_rare {source="GARD:0010493"} +subset: gard_rare {source="GARD:10493"} subset: ordo_disease {source="Orphanet:86873"} synonym: "aggressive natural killer cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493] @@ -373688,6 +390623,7 @@ synonym: "NK-cell leukemia" EXACT [NCIT:C8647] synonym: "NK-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell LGL leukemia" EXACT [Orphanet:86873] xref: DOID:1035 {source="MONDO:equivalentTo"} +xref: GARD:10493 {source="Orphanet:86873"} xref: ICD10CM:C94.8 {source="DOID:1035"} xref: ICDO:9948/3 {source="NCIT:C8647"} xref: MedDRA:10028811 {source="Orphanet:86873", source="Orphanet:86873/e"} @@ -373712,6 +390648,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10493/aggres id: MONDO:0019471 name: adult T-cell leukemia/lymphoma def: "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." [NCIT:C3184] +subset: gard_rare {source="GARD:19076"} subset: ordo_disease {source="Orphanet:86875"} synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "adult T-cell leukaemia" EXACT OMO:0003005 [] @@ -373726,6 +390663,7 @@ synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] synonym: "T-cell leukaemia of adults" EXACT OMO:0003005 [] synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0050523 {source="MONDO:equivalentTo"} +xref: GARD:19076 {source="Orphanet:86875"} xref: ICD10CM:C91.5 {source="Orphanet:86875/ntbt", source="Orphanet:86875", source="DOID:0050523"} xref: ICD10CM:C91.50 {source="DOID:0050523"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -373750,6 +390688,7 @@ relationship: MONDO:0100332 NCBITaxon:11908 ! disease has primary infectious age id: MONDO:0019472 name: extranodal nasal NK/T cell lymphoma def: "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." [Orphanet:86879] +subset: gard_rare {source="GARD:7041"} subset: ordo_disease {source="Orphanet:86879"} synonym: "angiocentric T-cell lymphoma" EXACT [Orphanet:86879] synonym: "Extranodal NK/T lymphoma-nasal" EXACT [NCIT:C4684] @@ -373761,6 +390700,7 @@ synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879] synonym: "NKTCL" EXACT ABBREVIATION [Orphanet:86879] synonym: "reticulosis, malignant" EXACT [NCIT:C4684] xref: DOID:0080797 {source="MONDO:equivalentTo"} +xref: GARD:7041 {source="Orphanet:86879"} xref: ICD10CM:C86.0 {source="Orphanet:86879", source="Orphanet:86879/e"} xref: ICDO:9719/3 {source="NCIT:C4684"} xref: MedDRA:10065855 {source="Orphanet:86879", source="Orphanet:86879/e"} @@ -373779,7 +390719,7 @@ id: MONDO:0019473 name: enteropathy-associated T-cell lymphoma def: "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." [NCIT:C4737] comment: Editor note: consider moving ORDO class to SI subclass -subset: gard_rare {source="GARD:0009809"} +subset: gard_rare {source="GARD:9809"} subset: ordo_disease {source="Orphanet:86880"} synonym: "EATCL" RELATED ABBREVIATION [GARD:0009809] synonym: "EATL" EXACT ABBREVIATION [ONCOTREE:EATL, Orphanet:86880] @@ -373790,6 +390730,7 @@ synonym: "enteropathy-type T-cell lymphoma" EXACT [Orphanet:86880] synonym: "ETTL" EXACT ABBREVIATION [Orphanet:86880] synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809] synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880] +xref: GARD:9809 {source="Orphanet:86880"} xref: ICD10CM:C86.2 {source="Orphanet:86880/e", source="Orphanet:86880"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9717/3 {source="NCIT:C4737"} @@ -373808,10 +390749,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9809/enterop id: MONDO:0019474 name: hepatosplenic T-cell lymphoma def: "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." [NCIT:P378] +subset: gard_rare {source="GARD:19077"} subset: ordo_disease {source="Orphanet:86882"} synonym: "Hepatosplenic gamma/Delta T-cell lymphoma" EXACT [NCIT:C8459] synonym: "HSTCL" RELATED ABBREVIATION [ONCOTREE:HSTCL] xref: DOID:0081049 {source="MONDO:equivalentTo"} +xref: GARD:19077 {source="Orphanet:86882"} xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9716/3 {source="NCIT:C8459"} @@ -373828,6 +390771,7 @@ is_a: MONDO:0015760 {source="NCIT:C8459/inferred", source="Orphanet:86882"} ! T- id: MONDO:0019475 name: subcutaneous panniculitis-like T-cell lymphoma def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." [Orphanet:86884] +subset: gard_rare {source="GARD:10193"} subset: ordo_disease {source="Orphanet:86884"} synonym: "SPTCL" EXACT ABBREVIATION [ONCOTREE:SPTCL, Orphanet:86884] synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884] @@ -373836,6 +390780,7 @@ synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXAC synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918] synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [OMIM:618398] xref: EFO:1000552 {source="MONDO:equivalentTo"} +xref: GARD:10193 {source="Orphanet:86884"} xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9708/3 {source="NCIT:C6918"} @@ -373854,9 +390799,11 @@ relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell [Term] id: MONDO:0019476 name: primary cutaneous peripheral T-cell lymphoma not otherwise specified +subset: gard_rare {source="GARD:19078"} subset: ordo_disease {source="Orphanet:86885"} synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [Orphanet:86885] synonym: "primary cutaneous unspecified peripheral T-cell lymphoma" EXACT [Orphanet:86885] +xref: GARD:19078 {source="Orphanet:86885"} xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/ntbt"} xref: MedDRA:10034623 {source="Orphanet:86885", source="Orphanet:86885/e"} xref: MESH:D016411 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/e"} @@ -373896,10 +390843,12 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0019479 name: histiocytic sarcoma def: "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [NCIT:P378] +subset: gard_rare {source="GARD:19080"} subset: ordo_disease {source="Orphanet:86896"} synonym: "histiocytic sarcoma" EXACT [NCIT:C27349] synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349] xref: DOID:0080915 {source="MONDO:equivalentTo"} +xref: GARD:19080 {source="Orphanet:86896"} xref: ICD10CM:C96.8 {source="Orphanet:86896", source="Orphanet:86896/e"} xref: ICD10CM:C96.A {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -373916,7 +390865,7 @@ is_a: MONDO:0006247 {source="NCIT:C27349", source="Orphanet:86896/inferred"} ! h id: MONDO:0019480 name: Langerhans cell sarcoma def: "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" [NCIT:C6921] -subset: gard_rare {source="GARD:0010491"} +subset: gard_rare {source="GARD:10491"} subset: ordo_disease {source="Orphanet:86897"} synonym: "Langerhans cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C6921] synonym: "LCS" RELATED ABBREVIATION [ONCOTREE:LCS] @@ -373924,6 +390873,7 @@ synonym: "malignant Langerhans cell sarcoma" RELATED [GARD:0010491] synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"} xref: EFO:0007336 {source="MONDO:equivalentTo"} +xref: GARD:10491 {source="Orphanet:86897"} xref: ICD10CM:C96.4 {source="Orphanet:86897/ntbt", source="Orphanet:86897", source="DOID:7146"} xref: ICDO:9756/3 {source="NCIT:C6921"} xref: MESH:D054752 {source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="Orphanet:86897/e", source="DOID:7146"} @@ -373950,7 +390900,9 @@ replaced_by: MONDO:0005764 [Term] id: MONDO:0019482 name: dendritic cell sarcoma not otherwise specified +subset: gard_rare {source="GARD:19082"} subset: ordo_disease {source="Orphanet:86903"} +xref: GARD:19082 {source="Orphanet:86903"} xref: ICD10CM:C96.4 {source="Orphanet:86903/ntbt", source="Orphanet:86903"} xref: Orphanet:86903 {source="MONDO:equivalentTo"} xref: UMLS:C1301364 {source="Orphanet:86903/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86903"} @@ -373960,12 +390912,14 @@ is_a: MONDO:0020082 {source="Orphanet:86903"} ! dendritic cell tumor id: MONDO:0019483 name: methotrexate-associated lymphoproliferative disorders def: "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients." [Orphanet:86904] +subset: gard_rare {source="GARD:19083"} subset: ordo_disease {source="Orphanet:86904"} synonym: "methotrexate-associated lymphoproliferation" EXACT [MONDO:0003657] synonym: "methotrexate-associated lymphoproliferative disorder" EXACT [NCIT:C7184] synonym: "MTX-associated lymphoproliferative disorders" EXACT [Orphanet:86904] synonym: "MTX-LPD" EXACT [Orphanet:86904] xref: DOID:5821 {source="MONDO:equivalentTo"} +xref: GARD:19083 {source="Orphanet:86904"} xref: NCIT:C7184 {source="DOID:5821", source="MONDO:equivalentTo"} xref: Orphanet:86904 {source="MONDO:equivalentTo"} xref: UMLS:C1334749 {source="DOID:5821", source="MONDO:equivalentTo", source="NCIT:C7184"} @@ -373980,7 +390934,9 @@ relationship: realized_in_response_to_stimulus CHEBI:44185 ! methotrexate id: MONDO:0019484 name: hypothalamic hamartomas with gelastic seizures def: "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." [Orphanet:86906] +subset: gard_rare {source="GARD:19084"} subset: ordo_disease {source="Orphanet:86906"} +xref: GARD:19084 {source="Orphanet:86906"} xref: ICD10CM:G40.5 {source="Orphanet:86906/attributed", source="Orphanet:86906/ntbt", source="Orphanet:86906"} xref: Orphanet:86906 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -373989,10 +390945,12 @@ is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain dis id: MONDO:0019485 name: idiopathic hemiconvulsion-hemiplegia syndrome def: "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory." [Orphanet:86908] +subset: gard_rare {source="GARD:19085"} subset: ordo_disease {source="Orphanet:86908"} synonym: "hemiconvulsion-hemiplegia-epilepsy syndrome" EXACT [Orphanet:86908] synonym: "HHE syndrome" EXACT [Orphanet:86908] synonym: "IHHS" EXACT ABBREVIATION [Orphanet:86908] +xref: GARD:19085 {source="Orphanet:86908"} xref: ICD10CM:G40.4 {source="Orphanet:86908/ntbt", source="Orphanet:86908"} xref: Orphanet:86908 {source="MONDO:equivalentTo"} xref: SCTID:230407006 {source="MONDO:equivalentTo"} @@ -374005,8 +390963,10 @@ relationship: has_characteristic MONDO:0700005 {source="Orphanet:86908"} ! idiop [Term] id: MONDO:0019486 name: obsolete myoclonic epilepsy of infancy +subset: gard_rare {source="GARD:19086"} synonym: "benign myoclonic epilepsy of infancy" EXACT [Orphanet:86909] synonym: "benign myoclonus epilepsy of infancy" EXACT [Orphanet:86909] +xref: GARD:19086 {source="Orphanet:86909", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G40.3 {source="Orphanet:86909", source="Orphanet:86909/attributed", source="Orphanet:86909/ntbt"} xref: Orphanet:86909 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0751120 {source="Orphanet:86909", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86909/e"} @@ -374022,7 +390982,9 @@ is_obsolete: true [Term] id: MONDO:0019487 name: epilepsy with myoclonic absences +subset: gard_rare {source="GARD:19087"} subset: ordo_disease {source="Orphanet:86911"} +xref: GARD:19087 {source="Orphanet:86911"} xref: ICD10CM:G40.4 {source="Orphanet:86911", source="Orphanet:86911/ntbt"} xref: Orphanet:86911 {source="MONDO:equivalentTo"} xref: SCTID:230422001 {source="MONDO:equivalentTo"} @@ -374034,9 +390996,11 @@ is_a: MONDO:0020072 {source="Orphanet:86911", source="https://orcid.org/0000-000 id: MONDO:0019488 name: myoclonic epilepsy in non-progressive encephalopathies def: "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." [Orphanet:86913] +subset: gard_rare {source="GARD:19088"} subset: ordo_malformation_syndrome {source="Orphanet:86913"} synonym: "myoclonic status in non-progressive encephalopathies" EXACT [Orphanet:86913] synonym: "myoclonus epilepsy in non-progressive encephalopathies" EXACT [Orphanet:86913] +xref: GARD:19088 {source="Orphanet:86913"} xref: ICD10CM:G40.4 {source="Orphanet:86913", source="Orphanet:86913/attributed", source="Orphanet:86913/ntbt"} xref: Orphanet:86913 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome @@ -374045,8 +391009,10 @@ is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome id: MONDO:0019489 name: diffuse palmoplantar keratoderma - acrocyanosis syndrome def: "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." [Orphanet:86918] +subset: gard_rare {source="GARD:19089"} subset: ordo_disease {source="Orphanet:86918"} synonym: "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" EXACT [Orphanet:86918] +xref: GARD:19089 {source="Orphanet:86918"} xref: ICD10CM:Q82.8 {source="Orphanet:86918/attributed", source="Orphanet:86918/ntbt", source="Orphanet:86918"} xref: Orphanet:86918 {source="MONDO:equivalentTo"} xref: UMLS:CN206272 {source="MONDO:equivalentTo"} @@ -374056,6 +391022,7 @@ is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar ke id: MONDO:0019490 name: progressive familial heart block def: "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." [Orphanet:871] +subset: gard_rare {source="GARD:10005"} subset: ordo_disease {source="Orphanet:871"} synonym: "familial Lenegre disease" EXACT [DOID:0111073] synonym: "familial Lenègre disease" EXACT [Orphanet:871] @@ -374068,6 +391035,7 @@ synonym: "familial progressive heart block" EXACT [DOID:0111073, Orphanet:871] synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871] synonym: "PFHB" EXACT ABBREVIATION [DOID:0111073] xref: DOID:0111073 {source="MONDO:equivalentTo"} +xref: GARD:10005 {source="Orphanet:871"} xref: ICD10CM:I45.8 {source="Orphanet:871/attributed", source="Orphanet:871/ntbt", source="Orphanet:871"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:113900 {source="MONDO:equivalentTo", source="DOID:0111073"} @@ -374084,8 +391052,10 @@ id: MONDO:0019491 name: obsolete rare intellectual disability def: "OBSOLETE. Rare intellectual disability." [] subset: disease_grouping +subset: gard_rare {source="GARD:19090"} subset: ordo_group_of_disorders {source="Orphanet:87277"} synonym: "rare intellectual disability" EXACT [MONDO:patterns/rare] +xref: GARD:19090 {source="MONDO:obsoleteEquivalent", source="Orphanet:87277"} xref: Orphanet:87277 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227638 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -374102,11 +391072,13 @@ replaced_by: MONDO:0007608 id: MONDO:0019493 name: primary adult heart tumor def: "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." [Orphanet:874] +subset: gard_rare {source="GARD:18709"} subset: ordo_disease {source="Orphanet:874"} synonym: "adult cardiac tumor" EXACT [Orphanet:874] synonym: "adult cardiac tumour" EXACT OMO:0003005 [] synonym: "adult heart tumor" EXACT [Orphanet:874] synonym: "adult heart tumour" EXACT OMO:0003005 [] +xref: GARD:18709 {source="Orphanet:874"} xref: ICD10CM:C38.0 {source="Orphanet:874", source="Orphanet:874/ntbt"} xref: ICD10CM:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="Orphanet:874/ntbt"} xref: Orphanet:874 {source="MONDO:equivalentTo"} @@ -374120,6 +391092,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015673"} ! rare id: MONDO:0019494 name: primary pediatric heart tumor def: "Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." [Orphanet:875] +subset: gard_rare {source="GARD:18710"} subset: ordo_disease {source="Orphanet:875"} synonym: "Cardiac tumor of child" EXACT [Orphanet:875] synonym: "Cardiac tumour of child" EXACT OMO:0003005 [] @@ -374127,6 +391100,7 @@ synonym: "heart tumor of child" EXACT [Orphanet:875] synonym: "heart tumour of child" EXACT OMO:0003005 [] synonym: "paediatric heart neoplasm" EXACT OMO:0003005 [] synonym: "pediatric heart neoplasm" EXACT [MONDO:cjm] +xref: GARD:18710 {source="Orphanet:875"} xref: ICD10CM:C38.0 {source="Orphanet:875/ntbt", source="Orphanet:875"} xref: ICD10CM:D15.1 {source="Orphanet:875/ntbt", source="MONDO:relatedTo", source="Orphanet:875"} xref: Orphanet:875 {source="MONDO:equivalentTo"} @@ -374146,6 +391120,7 @@ name: neuroendocrine neoplasm def: "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion)." [Orphanet:877] comment: Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass subset: disease_grouping +subset: gard_rare {source="GARD:9316"} subset: ordo_group_of_disorders {source="Orphanet:877"} synonym: "APUDoma" EXACT [Orphanet:877] synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809] @@ -374153,6 +391128,7 @@ synonym: "neuroendocrine tumor" EXACT [NCIT:C3809] synonym: "neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:169 {source="MONDO:equivalentTo"} xref: EFO:1001901 {source="MONDO:equivalentTo"} +xref: GARD:9316 {source="Orphanet:877"} xref: ICD10CM:D3A-D3A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:D3A.8 {source="DOID:169"} xref: ICD9:209 {source="DOID:169"} @@ -374176,7 +391152,7 @@ id: MONDO:0019497 name: nonsyndromic genetic hearing loss def: "A disease characterized by hearing loss that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:19091"} subset: ordo_group_of_disorders {source="Orphanet:87884"} synonym: "familial deafness" NARROW [GARD:0006410] synonym: "isolated genetic deafness" NARROW [Orphanet:87884] @@ -374187,6 +391163,7 @@ synonym: "nonsyndromic hearing loss" BROAD [DOID:0050563, MONDO:patterns/isolate synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563] xref: DOID:0050563 {source="MONDO:equivalentTo"} xref: EFO:0009076 {source="MONDO:equivalentTo"} +xref: GARD:19091 {source="Orphanet:87884"} xref: ICD10CM:H90.5 {source="Orphanet:87884", source="Orphanet:87884/e", source="Orphanet:87884/specific"} xref: MESH:C580334 {source="MONDO:equivalentTo"} xref: Orphanet:87884 {source="MONDO:equivalentTo"} @@ -374204,7 +391181,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6410/familia id: MONDO:0019498 name: tungiasis def: "An disease or disorder caused by infection with Tunga penetrans." [MONDO:patterns/specific_infectious_disease_by_agent] -subset: gard_rare {source="GARD:0000393"} +subset: gard_rare {source="GARD:393"} subset: ordo_disease {source="Orphanet:879"} synonym: "chigger flea" RELATED [GARD:0000393] synonym: "S penetrans" RELATED [GARD:0000393] @@ -374216,6 +391193,7 @@ synonym: "Tunga penetrans disease or disorder" EXACT [] synonym: "Tunga penetrans infectious disease" EXACT [] xref: DOID:0050266 {source="MONDO:equivalentTo"} xref: EFO:1001445 {source="MONDO:equivalentTo"} +xref: GARD:393 {source="Orphanet:879"} xref: ICD10CM:B88.1 {source="Orphanet:879", source="Orphanet:879/e"} xref: ICD9:134.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058285 {source="MONDO:equivalentTo", source="Orphanet:879", source="Orphanet:879/e"} @@ -374235,7 +391213,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/393/tungiasi id: MONDO:0019499 name: Turner syndrome def: "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." [Orphanet:881] -subset: gard_rare {source="GARD:0007831"} +subset: gard_rare {source="GARD:7831"} subset: ordo_malformation_syndrome {source="Orphanet:881"} synonym: "45, X syndrome" RELATED [GARD:0007831] synonym: "45,X gonadal dysgenesis" EXACT [NCIT:C26900] @@ -374259,6 +391237,7 @@ synonym: "Turner Varny syndrome" RELATED [GARD:0007831] synonym: "Ullrich-Turner syndrome" RELATED [GARD:0007831] synonym: "XO syndrome" EXACT [DOID:3491] xref: DOID:3491 {source="MONDO:equivalentTo"} +xref: GARD:7831 {source="Orphanet:881"} xref: ICD10CM:Q96 {source="DOID:3491"} xref: ICD10CM:Q96.0 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"} xref: ICD10CM:Q96.1 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} @@ -374300,7 +391279,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7831/turner- id: MONDO:0019500 name: extragonadal teratoma def: "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." [Orphanet:883] +subset: gard_rare {source="GARD:18711"} subset: ordo_disease {source="Orphanet:883"} +xref: GARD:18711 {source="Orphanet:883"} xref: MedDRA:10043276 {source="Orphanet:883/e", source="Orphanet:883"} xref: MESH:D013724 {source="MONDO:relatedTo", source="Orphanet:883/e", source="Orphanet:883"} xref: Orphanet:883 {source="MONDO:equivalentTo"} @@ -374313,6 +391294,7 @@ id: MONDO:0019501 name: Usher syndrome def: "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." [Orphanet:886] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:7843"} subset: ordo_disease {source="Orphanet:886"} synonym: "deafness-retinitis pigmentosa syndrome" NARROW [GARD:0007843] synonym: "dystrophia retinae pigmentosa-dysostosis syndrome" RELATED [GARD:0007843] @@ -374322,6 +391304,7 @@ synonym: "retinitis pigmentosa-deafness syndrome" NARROW [Orphanet:886] synonym: "ush" EXACT [Orphanet:886] synonym: "Usher's syndrome" EXACT [GARD:0007843] xref: DOID:0050439 {source="MONDO:equivalentTo"} +xref: GARD:7843 {source="Orphanet:886"} xref: ICD10CM:H35.5 {source="Orphanet:886/attributed", source="Orphanet:886/ntbt", source="MONDO:relatedTo", source="Orphanet:886"} xref: MedDRA:10063396 {source="Orphanet:886", source="Orphanet:886/e"} xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} @@ -374347,6 +391330,7 @@ id: MONDO:0019502 name: autosomal recessive non-syndromic intellectual disability def: "Autosomal recessive form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_recessive] comment: Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 +subset: gard_rare {source="GARD:18643"} synonym: "AR-NSID" EXACT [Orphanet:88616] synonym: "autosomal recessive intellectual disability" EXACT [DOID:0060308] synonym: "autosomal recessive mental retardation" EXACT DEPRECATED [DOID:0060308] @@ -374357,6 +391341,7 @@ synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [OMIMPS:2495 synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "NS-ARID" EXACT [Orphanet:88616] xref: DOID:0060308 {source="MONDO:equivalentTo"} +xref: GARD:18643 {source="Orphanet:88616"} xref: OMIMPS:249500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"} xref: UMLS:CN206293 {source="MONDO:equivalentTo"} @@ -374374,7 +391359,7 @@ id: MONDO:0019503 name: anterior segment dysgenesis def: "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." [https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:10025"} subset: ordo_group_of_disorders {source="Orphanet:88632"} synonym: "anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025] synonym: "anterior segment ocular dysgenesis" EXACT [GARD:0010025] @@ -374384,6 +391369,7 @@ synonym: "ASOD" EXACT ABBREVIATION [GARD:0010025] synonym: "familial ocular anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025] synonym: "FOXE3-related ocular disorder" RELATED EXCLUDE [GARD:0010025] xref: DOID:0060648 {source="MONDO:equivalentTo"} +xref: GARD:10025 {source="Orphanet:88632"} xref: ICD10CM:Q13.8 {source="Orphanet:88632", source="Orphanet:88632/attributed", source="Orphanet:88632/ntbt"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:107250 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -374402,13 +391388,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019504 name: superior limbic keratoconjunctivitis def: "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." [https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis] -subset: gard_rare {source="GARD:0010940"} +subset: gard_rare {source="GARD:10940"} subset: ordo_disease {source="Orphanet:88633"} synonym: "SLK" EXACT ABBREVIATION [Orphanet:88633] synonym: "Theodore's superior limbic keratoconjunctivitis" EXACT [Orphanet:88633] synonym: "Theodore's syndrome" EXACT [Orphanet:88633] synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940] synonym: "Theodores syndrome" RELATED [GARD:0010940] +xref: GARD:10940 {source="Orphanet:88633"} xref: ICD10CM:H16.2 {source="Orphanet:88633/ntbt", source="MONDO:relatedTo", source="Orphanet:88633"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:88633 {source="MONDO:equivalentTo"} @@ -374421,7 +391408,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10940/superi id: MONDO:0019505 name: obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome def: "OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637] +subset: gard_rare {source="GARD:16771"} synonym: "4H syndrome" EXACT [Orphanet:88637] +xref: GARD:16771 {source="MONDO:obsoleteEquivalent", source="Orphanet:88637"} xref: ICD10CM:G11.1 {source="Orphanet:88637", source="Orphanet:88637/attributed", source="Orphanet:88637/ntbt"} xref: Orphanet:88637 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C2676243 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88637"} @@ -374439,7 +391428,9 @@ id: MONDO:0019506 name: obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome def: "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." [Orphanet:88643] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:19092"} subset: ordo_disease {source="Orphanet:88643"} +xref: GARD:19092 {source="Orphanet:88643"} xref: Orphanet:88643 {source="MONDO:equivalentTo"} xref: SCTID:722051004 {source="MONDO:equivalentTo"} xref: UMLS:CN227640 {source="MONDO:equivalentTo"} @@ -374452,10 +391443,11 @@ id: MONDO:0019507 name: amelogenesis imperfecta def: "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." [Orphanet:88661] subset: clingen -subset: gard_rare {source="GARD:0005791"} +subset: gard_rare {source="GARD:5791"} subset: ordo_disease {source="Orphanet:88661"} xref: CSP:0828-0533 {source="DOID:2187"} xref: DOID:2187 {source="MONDO:equivalentTo"} +xref: GARD:5791 {source="Orphanet:88661"} xref: ICD10CM:K00.5 {source="DOID:2187", source="Orphanet:88661/ntbt", source="Orphanet:88661/inclusion", source="Orphanet:88661"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"} @@ -374471,6 +391463,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5791/ameloge id: MONDO:0019508 name: van der Woude syndrome def: "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." [Orphanet:888] +subset: gard_rare {source="GARD:8414"} subset: ordo_malformation_syndrome {source="Orphanet:888"} synonym: "cleft lip and/or palate with mucous cysts of lower lip" RELATED [GARD:0008414] synonym: "cleft lip/palate with mucous cysts of lower lip" EXACT [Orphanet:888] @@ -374479,6 +391472,7 @@ synonym: "lip-pit syndrome" EXACT [DOID:0060239, Orphanet:888] synonym: "LPS" RELATED ABBREVIATION [GARD:0008414] synonym: "VWS" EXACT ABBREVIATION [Orphanet:888] xref: DOID:0060239 {source="MONDO:equivalentTo"} +xref: GARD:8414 {source="Orphanet:888"} xref: ICD10CM:Q38.0 {source="Orphanet:888/inclusion", source="Orphanet:888/ntbt", source="Orphanet:888", source="DOID:0060239"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536528 {source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} @@ -374499,6 +391493,7 @@ relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:888"} ! obsole id: MONDO:0019509 name: cutaneous leukocytoclastic angiitis def: "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." [Orphanet:889] +subset: gard_rare {source="GARD:7851"} subset: ordo_disease {source="Orphanet:889"} synonym: "cutaneous hypersensitivity vasculitis" EXACT [Orphanet:889] synonym: "cutaneous leukocytoclastic vasculitis" EXACT [Orphanet:889] @@ -374506,6 +391501,7 @@ synonym: "cutaneous small vessel vasculitis" EXACT [Orphanet:889] synonym: "cutaneous small-vessel vasculitis" EXACT [NCIT:C122919] synonym: "hypersensitivity angiitis" EXACT [Orphanet:889] synonym: "leukocytoclastic angiitis" RELATED [GARD:0007851] +xref: GARD:7851 {source="Orphanet:889"} xref: ICD10CM:M31.0 {source="Orphanet:889/ntbt", source="Orphanet:889"} xref: NCIT:C122919 {source="MONDO:equivalentTo"} xref: Orphanet:889 {source="MONDO:equivalentTo"} @@ -374534,6 +391530,7 @@ id: MONDO:0019512 name: congenital heart malformation def: "A disease that has its basis in the disruption of heart development." [MONDO:patterns/basis_in_disruption_of_process] subset: disease_grouping +subset: gard_rare {source="GARD:19094"} subset: ordo_group_of_disorders {source="Orphanet:88991"} synonym: "congenital heart malformation" EXACT [MONDO:0005472] synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991] @@ -374541,6 +391538,7 @@ synonym: "disorder of heart development" EXACT [MONDO:patterns/basis_in_disrupti synonym: "heart development disease" EXACT [MONDO:design_pattern] synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991] xref: EFO:0005269 {source="MONDO:equivalentTo"} +xref: GARD:19094 {source="Orphanet:88991"} xref: Orphanet:88991 {source="MONDO:equivalentTo"} xref: UMLS:C0018798 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88991"} is_a: MONDO:0004995 {source="EFO:0005269/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! cardiovascular disorder @@ -374553,7 +391551,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020003"} ! rare [Term] id: MONDO:0019513 name: obsolete esophageal malformation +subset: gard_rare {source="GARD:19095"} subset: ordo_group_of_disorders {source="Orphanet:88993"} +xref: GARD:19095 {source="MONDO:obsoleteEquivalent", source="Orphanet:88993"} xref: Orphanet:88993 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -374565,13 +391565,14 @@ is_obsolete: true id: MONDO:0019514 name: hepatic veno-occlusive disease def: "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." [Orphanet:890] -subset: gard_rare {source="GARD:0013004"} +subset: gard_rare {source="GARD:13004"} subset: ordo_disease {source="Orphanet:890"} synonym: "hepatic Vod" EXACT [Orphanet:890-text] synonym: "liver veno-occlusive disease" EXACT [NCIT:C26793] synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890] synonym: "veno-occlusive disease" RELATED [DOID:0080177] xref: DOID:0080177 {source="MONDO:equivalentTo"} +xref: GARD:13004 {source="Orphanet:890"} xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} xref: ICD9:453.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047216 {source="Orphanet:890/e", source="Orphanet:890"} @@ -374589,8 +391590,10 @@ id: MONDO:0019515 name: obsolete rare dementia def: "OBSOLETE. Rare dementia." [] subset: disease_grouping +subset: gard_rare {source="GARD:19096"} subset: ordo_group_of_disorders {source="Orphanet:89043"} synonym: "rare dementia" EXACT [MONDO:patterns/rare] +xref: GARD:19096 {source="MONDO:obsoleteEquivalent", source="Orphanet:89043"} xref: Orphanet:89043 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227644 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -374601,12 +391604,14 @@ replaced_by: MONDO:0001627 id: MONDO:0019516 name: exudative vitreoretinopathy def: "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." [Orphanet:891] +subset: gard_rare {source="GARD:1613"} subset: ordo_disease {source="Orphanet:891"} synonym: "Criswick-Schepens syndrome" EXACT [Orphanet:891] synonym: "exudative vitreoretinopathy, familial" RELATED [GARD:0001613] synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535] synonym: "FEVR" EXACT ABBREVIATION [DOID:0050535, Orphanet:891] xref: DOID:0050535 {source="MONDO:equivalentTo"} +xref: GARD:1613 {source="Orphanet:891"} xref: ICD10CM:H35.0 {source="Orphanet:891/inclusion", source="Orphanet:891/ntbt", source="Orphanet:891"} xref: ICD10CM:H35.00 {source="DOID:0050535"} xref: ICD9:362.10 {source="DOID:0050535"} @@ -374632,13 +391637,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133780"} ! inheri id: MONDO:0019517 name: Waardenburg syndrome type 2 def: "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." [Orphanet:895] -subset: gard_rare {source="GARD:0005520"} +subset: gard_rare {source="GARD:5520"} subset: ordo_clinical_subtype {source="Orphanet:895"} synonym: "Waardenburg syndrome type 2" EXACT CLINGEN_PREFERRED [] synonym: "Waardenburg syndrome type II" EXACT [Orphanet:895] synonym: "WS 2" RELATED [GARD:0005520] synonym: "WS type 2" RELATED [GARD:0005520] synonym: "WS2" EXACT ABBREVIATION [Orphanet:895] +xref: GARD:5520 {source="Orphanet:895"} xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="Orphanet:895/attributed", source="Orphanet:895/ntbt"} xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} xref: NCIT:C75009 {source="MONDO:equivalentTo"} @@ -374653,7 +391659,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5520/waarden id: MONDO:0019518 name: Waardenburg-Shah syndrome def: "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." [Orphanet:897] -subset: gard_rare {source="GARD:0005524"} +subset: gard_rare {source="GARD:5524"} subset: ordo_disease {source="Orphanet:897"} synonym: "Hirschsprung disease with pigmentary anomaly" RELATED [GARD:0005524] synonym: "Shah-Waardenburg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, Orphanet:897] @@ -374663,6 +391669,7 @@ synonym: "Waardenburg-Hirschsprung disease" RELATED [GARD:0005524] synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897] synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842] synonym: "WS4" EXACT ABBREVIATION [Orphanet:897] +xref: GARD:5524 {source="Orphanet:897"} xref: ICD10CM:Q87.8 {source="Orphanet:897/attributed", source="Orphanet:897/ntbt", source="Orphanet:897"} xref: NCIT:C124842 {source="MONDO:equivalentTo"} xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"} @@ -374684,8 +391691,10 @@ id: MONDO:0019519 name: obsolete rare skin disease def: "OBSOLETE. Rare skin disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22510"} subset: ordo_group_of_disorders {source="Orphanet:89826"} synonym: "rare skin disease" EXACT [MONDO:patterns/rare] +xref: GARD:22510 {source="MONDO:obsoleteEquivalent", source="Orphanet:89826"} xref: Orphanet:89826 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206332 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -374725,7 +391734,7 @@ is_a: MONDO:0006543 {source="Orphanet:89841"} ! epidermolysis bullosa dystrophic id: MONDO:0019522 name: recessive dystrophic epidermolysis bullosa-generalized other def: "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." [Orphanet:89842] -subset: gard_rare {source="GARD:0012794"} +subset: gard_rare {source="GARD:12794"} subset: ordo_disease {source="Orphanet:89842"} synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842] synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalised other" EXACT OMO:0003005 [] @@ -374741,6 +391750,7 @@ synonym: "RDEB-O" EXACT [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] +xref: GARD:12794 {source="Orphanet:89842"} xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="Orphanet:89842/attributed", source="Orphanet:89842/ntbt"} xref: Orphanet:89842 {source="MONDO:equivalentTo"} xref: UMLS:CN206337 {source="MONDO:equivalentTo"} @@ -374759,10 +391769,12 @@ replaced_by: MONDO:0000171 id: MONDO:0019524 name: Bartter syndrome type 4 def: "A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent." [Orphanet:89938] +subset: gard_rare {source="GARD:10508"} subset: ordo_clinical_subtype {source="Orphanet:89938"} synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938] synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938] synonym: "Bartter syndrome with sensorineural deafness" EXACT [GARD:0010508, Orphanet:89938] +xref: GARD:10508 {source="Orphanet:89938"} xref: ICD10CM:E26.8 {source="Orphanet:89938", source="Orphanet:89938/attributed", source="Orphanet:89938/ntbt"} xref: Orphanet:89938 {source="MONDO:equivalentTo"} xref: SCTID:700112007 {source="MONDO:equivalentTo"} @@ -374775,7 +391787,7 @@ relationship: has_characteristic HP:0003593 ! Infantile onset id: MONDO:0019525 name: tetrasomy X def: "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." [Orphanet:9] -subset: gard_rare {source="GARD:0007754"} +subset: gard_rare {source="GARD:7754"} subset: ordo_malformation_syndrome {source="Orphanet:9"} synonym: "48 XXXX" RELATED [GARD:0007754] synonym: "48 XXXX syndrome" RELATED [GARD:0007754] @@ -374783,6 +391795,7 @@ synonym: "48,XXXX syndrome" EXACT [Orphanet:9] synonym: "quadruple X" EXACT [Orphanet:9] synonym: "tetra X" EXACT [Orphanet:9] synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9] +xref: GARD:7754 {source="Orphanet:9"} xref: ICD10CM:Q97.1 {source="Orphanet:9/attributed", source="Orphanet:9/ntbt", source="Orphanet:9"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536502 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} @@ -374798,9 +391811,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7754/tetraso id: MONDO:0019526 name: erythema elevatum diutinum def: "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." [Orphanet:90000] -subset: gard_rare {source="GARD:0008653"} +subset: gard_rare {source="GARD:8653"} subset: ordo_disease {source="Orphanet:90000"} xref: DOID:0060567 {source="MONDO:equivalentTo"} +xref: GARD:8653 {source="Orphanet:90000"} xref: ICD10CM:L95.1 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056968 {source="Orphanet:90000", source="Orphanet:90000/e"} @@ -374815,9 +391829,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8653/erythem id: MONDO:0019527 name: undifferentiated connective tissue syndrome def: "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." [NCIT:C116776] +subset: gard_rare {source="GARD:19097"} subset: ordo_disease {source="Orphanet:90002"} synonym: "UCTD" EXACT ABBREVIATION [Orphanet:90002] synonym: "undifferentiated connective tissue disease" EXACT [NCIT:C116776] +xref: GARD:19097 {source="Orphanet:90002"} xref: ICD10CM:M35.8 {source="Orphanet:90002", source="Orphanet:90002/ntbt"} xref: MedDRA:10071575 {source="Orphanet:90002", source="Orphanet:90002/e"} xref: NCIT:C116776 {source="MONDO:equivalentTo"} @@ -374830,8 +391846,10 @@ is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116776"} ! autoimmu id: MONDO:0019528 name: inflammatory pseudotumor of the liver def: "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." [Orphanet:90003] +subset: gard_rare {source="GARD:19098"} subset: ordo_disease {source="Orphanet:90003"} synonym: "IgG4-related hepatopathy" EXACT DEPRECATED [] +xref: GARD:19098 {source="Orphanet:90003"} xref: ICD10CM:K75.8 {source="Orphanet:90003", source="Orphanet:90003/ntbt"} xref: Orphanet:90003 {source="MONDO:equivalentTo"} is_a: MONDO:0024477 {source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm @@ -374843,9 +391861,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019529 name: radiation myelitis def: "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/] +subset: gard_rare {source="GARD:19099"} subset: ordo_disease {source="Orphanet:90021"} synonym: "delayed radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/] synonym: "radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/] +xref: GARD:19099 {source="Orphanet:90021"} xref: ICD10CM:G97.8 {source="Orphanet:90021/ntbt", source="Orphanet:90021"} xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:90021 {source="MONDO:equivalentTo"} @@ -374859,6 +391879,7 @@ name: non-syndromic syndactyly def: "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." [NCIT:C87125] comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy subset: disease_grouping +subset: gard_rare {source="GARD:19100"} subset: ordo_group_of_disorders {source="Orphanet:90025"} synonym: "chromosome 2q35 duplication syndrome" NARROW [DOID:11193, OMIM:185900] synonym: "isolated syndactyly" RELATED [https://orcid.org/0000-0002-6601-2165] @@ -374867,6 +391888,7 @@ synonym: "symphalangism" RELATED [DOID:11193] synonym: "symphalangy" RELATED [DOID:11193] synonym: "syndactyly" RELATED [MONDO:ambiguous] synonym: "webbing of digits" RELATED [DOID:11193] +xref: GARD:19100 {source="Orphanet:90025"} xref: ICD10CM:Q70.0 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.1 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.2 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} @@ -374888,8 +391910,11 @@ id: MONDO:0019531 name: hemolytic anemia due to glutathione reductase deficiency alt_id: MONDO:0032856 def: "Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030] +subset: gard_rare {source="GARD:18089", source="GARD:16784"} subset: ordo_disease {source="Orphanet:90030"} synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] +xref: GARD:16784 {source="Orphanet:90030"} +xref: GARD:18089 {source="OMIM:618660"} xref: ICD10CM:D55.1 {source="Orphanet:90030/attributed", source="Orphanet:90030/ntbt", source="Orphanet:90030"} xref: OMIM:618660 {source="MONDO:equivalentTo"} xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"} @@ -374901,6 +391926,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019532 name: autoimmune hemolytic anemia, warm type def: "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C)." [Orphanet:90033] +subset: gard_rare {source="GARD:7876"} subset: ordo_disease {source="Orphanet:90033"} synonym: "wAHA" EXACT [Orphanet:90033] synonym: "wAIHA" EXACT [Orphanet:90033] @@ -374912,6 +391938,7 @@ synonym: "warm antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "warm antibody hemolytic anemia" RELATED [GARD:0007876] synonym: "warm-reacting-antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "warm-reacting-antibody hemolytic anemia" RELATED [GARD:0007876] +xref: GARD:7876 {source="Orphanet:90033"} xref: ICD10CM:D59.1 {source="Orphanet:90033/ntbt", source="Orphanet:90033"} xref: MedDRA:10047822 {source="Orphanet:90033", source="Orphanet:90033/e"} xref: NCIT:C162611 {source="MONDO:equivalentTo"} @@ -374924,12 +391951,14 @@ is_a: MONDO:0020108 {source="Orphanet:90033"} ! autoimmune hemolytic anemia id: MONDO:0019533 name: paroxysmal cold hemoglobinuria def: "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." [Orphanet:90035] +subset: gard_rare {source="GARD:7335"} subset: ordo_disease {source="Orphanet:90035"} synonym: "Donath-Landsteiner hemolytic anaemia" EXACT OMO:0003005 [] synonym: "Donath-Landsteiner hemolytic anemia" EXACT [Orphanet:90035] synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035] synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335] synonym: "PCH" EXACT ABBREVIATION [Orphanet:90035] +xref: GARD:7335 {source="Orphanet:90035"} xref: ICD10CM:D59.6 {source="Orphanet:90035", source="Orphanet:90035/ntbt"} xref: MESH:C538618 {source="Orphanet:90035", source="Orphanet:90035/e"} xref: Orphanet:90035 {source="MONDO:equivalentTo"} @@ -374942,8 +391971,10 @@ is_a: MONDO:0016450 {source="Orphanet:90035"} ! autoimmune hemolytic anemia, col id: MONDO:0019534 name: mixed-type autoimmune hemolytic anemia def: "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." [Orphanet:90036] +subset: gard_rare {source="GARD:19101"} subset: ordo_disease {source="Orphanet:90036"} synonym: "mixed AIHA" EXACT [Orphanet:90036] +xref: GARD:19101 {source="Orphanet:90036"} xref: ICD10CM:D59.1 {source="Orphanet:90036", source="Orphanet:90036/ntbt"} xref: Orphanet:90036 {source="MONDO:equivalentTo"} xref: SCTID:718716008 {source="MONDO:equivalentTo"} @@ -374954,8 +391985,10 @@ is_a: MONDO:0020108 {source="Orphanet:90036"} ! autoimmune hemolytic anemia id: MONDO:0019535 name: drug-induced autoimmune hemolytic anemia def: "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." [Orphanet:90037] +subset: gard_rare {source="GARD:19102"} subset: ordo_disease {source="Orphanet:90037"} synonym: "drug-induced AIHA" EXACT [Orphanet:90037] +xref: GARD:19102 {source="Orphanet:90037"} xref: ICD10CM:D59.0 {source="MONDO:equivalentTo", source="Orphanet:90037", source="Orphanet:90037/ntbt"} xref: Orphanet:90037 {source="MONDO:equivalentTo"} xref: SCTID:309742004 {source="MONDO:equivalentTo"} @@ -374968,7 +392001,7 @@ intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug id: MONDO:0019536 name: Shiga toxin-associated hemolytic uremic syndrome def: "A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." [Orphanet:90038] -subset: gard_rare +subset: gard_rare {source="GARD:6588"} subset: ordo_disease {source="Orphanet:90038"} synonym: "D+HUS" EXACT [Orphanet:90038] synonym: "D-plus hemolytic uremic syndrome (D+HUS)" RELATED [GARD:0006241] @@ -374978,6 +392011,7 @@ synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038] synonym: "Sxt-HUS" EXACT [Orphanet:90038] synonym: "typical hemolytic-uremic syndrome" EXACT [Orphanet:90038] synonym: "typical HUS" EXACT [Orphanet:90038] +xref: GARD:6588 {source="Orphanet:90038"} xref: ICD10CM:D59.3 {source="Orphanet:90038/e", source="Orphanet:90038"} xref: Orphanet:90038 {source="MONDO:equivalentTo"} xref: UMLS:CN206363 {source="MONDO:equivalentTo"} @@ -374992,10 +392026,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6241/d-plus- id: MONDO:0019537 name: hemoglobin D disease def: "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." [Orphanet:90039] +subset: gard_rare {source="GARD:19103"} subset: ordo_disease {source="Orphanet:90039"} synonym: "Hb-D disease" EXACT [DOID:5378] synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344] xref: DOID:5378 {source="MONDO:equivalentTo"} +xref: GARD:19103 {source="Orphanet:90039"} xref: ICD10CM:D58.2 {source="DOID:5378", source="Orphanet:90039", source="Orphanet:90039/attributed", source="Orphanet:90039/ntbt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10055019 {source="Orphanet:90039/e", source="Orphanet:90039"} @@ -375011,6 +392047,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare id: MONDO:0019538 name: Gaisbock syndrome def: "Polycythemia that is caused by stress." [NCIT:P378] +subset: gard_rare {source="GARD:19104"} subset: ordo_disease {source="Orphanet:90041"} synonym: "Gaisbock's syndrome" EXACT [DOID:2838] synonym: "Gaisboeck's syndrome" RELATED [GARD:0008402] @@ -375021,6 +392058,7 @@ synonym: "Pseudopolycythemia" RELATED [GARD:0008402] synonym: "stress erythrocytosis" EXACT [Orphanet:90041] synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orphanet:90041] xref: DOID:2838 {source="MONDO:equivalentTo"} +xref: GARD:19104 {source="Orphanet:90041"} xref: ICD10CM:D75.1 {source="Orphanet:90041/ntbt", source="Orphanet:90041", source="DOID:2838"} xref: MedDRA:10042217 {source="Orphanet:90041", source="Orphanet:90041/e"} xref: MedDRA:10053885 {source="Orphanet:90041", source="Orphanet:90041/e"} @@ -375043,10 +392081,12 @@ replaced_by: MONDO:0006952 [Term] id: MONDO:0019540 name: diffuse alveolar hemorrhage +subset: gard_rare {source="GARD:19110"} subset: ordo_clinical_situation {source="Orphanet:90060"} synonym: "diffuse alveolar haemorrhage (disease)" EXACT OMO:0003005 [] synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous] synonym: "diffuse alveolar hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19110 {source="Orphanet:90060"} xref: HP:0025420 {source="MONDO:otherHierarchy"} xref: ICD10CM:J98.4 {source="Orphanet:90060/ntbt", source="Orphanet:90060"} xref: Orphanet:90060 {source="MONDO:equivalentTo"} @@ -375057,7 +392097,9 @@ property_value: IAO:0000589 "diffuse alveolar hemorrhage (disease)" xsd:string [Term] id: MONDO:0019541 name: obsolete non-infectious posterior uveitis +subset: gard_rare {source="GARD:19111"} synonym: "non-infectious choroiditis" EXACT [Orphanet:90061] +xref: GARD:19111 {source="Orphanet:90061", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H30.0 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: ICD10CM:H30.1 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: Orphanet:90061 {source="MONDO:obsoleteEquivalent"} @@ -375072,9 +392114,11 @@ is_obsolete: true id: MONDO:0019542 name: acute liver failure def: "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." [NCIT:C84396] +subset: gard_rare {source="GARD:19112"} subset: ordo_clinical_situation {source="Orphanet:90062"} synonym: "acute hepatic failure" EXACT [Orphanet:90062] synonym: "fulminant hepatic failure" EXACT [Orphanet:90062] +xref: GARD:19112 {source="Orphanet:90062"} xref: ICD10CM:K72.0 {source="Orphanet:90062", source="Orphanet:90062/ntbt"} xref: MedDRA:10000804 {source="Orphanet:90062", source="Orphanet:90062/e"} xref: MESH:D017114 {source="Orphanet:90062", source="MONDO:equivalentTo", source="Orphanet:90062/e"} @@ -375092,7 +392136,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019543 name: acquired aneurysmal subarachnoid hemorrhage def: "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." [Orphanet:90065] +subset: gard_rare {source="GARD:19114"} subset: ordo_clinical_situation {source="Orphanet:90065"} +xref: GARD:19114 {source="Orphanet:90065"} xref: ICD10CM:I60.9 {source="Orphanet:90065/ntbt", source="Orphanet:90065"} xref: Orphanet:90065 {source="MONDO:equivalentTo"} xref: UMLS:CN206370 {source="MONDO:equivalentTo"} @@ -375103,7 +392149,9 @@ relationship: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0019544 name: cocaine intoxication +subset: gard_rare {source="GARD:19115"} subset: ordo_disease {source="Orphanet:90068"} +xref: GARD:19115 {source="Orphanet:90068"} xref: ICD10CM:T40.5 {source="Orphanet:90068", source="Orphanet:90068/e"} xref: ICD9:292.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:90068 {source="MONDO:equivalentTo"} @@ -375117,7 +392165,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0019545 name: systemic monochloroacetate poisoning def: "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." [Orphanet:90069] +subset: gard_rare {source="GARD:19116"} subset: ordo_disease {source="Orphanet:90069"} +xref: GARD:19116 {source="Orphanet:90069"} xref: ICD10CM:T60.3 {source="Orphanet:90069", source="Orphanet:90069/ntbt"} xref: Orphanet:90069 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="Orphanet:90069"} ! poisoning @@ -375129,7 +392179,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0019546 name: obsolete other acquired skin disease subset: disease_grouping +subset: gard_rare {source="GARD:19119"} subset: ordo_group_of_disorders {source="Orphanet:90077"} +xref: GARD:19119 {source="MONDO:obsoleteEquivalent", source="Orphanet:90077"} xref: Orphanet:90077 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206373 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -375140,11 +392192,12 @@ is_obsolete: true id: MONDO:0019547 name: Wells syndrome def: "Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia." [Orphanet:901] -subset: gard_rare {source="GARD:0000329"} +subset: gard_rare {source="GARD:329"} subset: ordo_disease {source="Orphanet:901"} synonym: "bullous cellulitis with eosinophilia" RELATED [GARD:0000329] synonym: "eosinophilic cellulitis" EXACT [Orphanet:901] synonym: "Wells' syndrome" RELATED [GARD:0000329] +xref: GARD:329 {source="Orphanet:901"} xref: ICD10CM:L98.3 {source="Orphanet:901", source="Orphanet:901/e"} xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536693 {source="MONDO:equivalentTo", source="Orphanet:901", source="Orphanet:901/e"} @@ -375159,11 +392212,13 @@ id: MONDO:0019548 name: autosomal dominant intermediate Charcot-Marie-Tooth disease def: "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_dominant] subset: disease_grouping +subset: gard_rare {source="GARD:12436"} subset: ordo_group_of_disorders {source="Orphanet:90114"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth" RELATED [GARD:0012436] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT [] synonym: "CMTDI" EXACT ABBREVIATION [Orphanet:90114] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:12436 {source="Orphanet:90114"} xref: ICD10CM:G60.0 {source="Orphanet:90114/inclusion", source="Orphanet:90114", source="Orphanet:90114/ntbt"} xref: Orphanet:90114 {source="MONDO:equivalentTo"} xref: UMLS:CN206376 {source="MONDO:equivalentTo"} @@ -375175,10 +392230,12 @@ intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance id: MONDO:0019549 name: severe early-onset axonal neuropathy due to MFN2 deficiency def: "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." [https://orcid.org/0000-0001-5208-3432, Orphanet:90118] +subset: gard_rare {source="GARD:19123"} subset: ordo_disease {source="Orphanet:90118"} synonym: "AR-CMT2, Ouvrier type" EXACT [Orphanet:90118] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [Orphanet:90118] synonym: "SEOAN due to MFN2 deficiency" EXACT [Orphanet:90118] +xref: GARD:19123 {source="Orphanet:90118"} xref: ICD10CM:G60.0 {source="Orphanet:90118/attributed", source="Orphanet:90118/ntbt", source="Orphanet:90118"} xref: Orphanet:90118 {source="MONDO:equivalentTo"} xref: SCTID:766977007 {source="MONDO:equivalentTo"} @@ -375192,11 +392249,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019550 name: hereditary motor and sensory neuropathy with acrodystrophy def: "A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." [https://orcid.org/0000-0001-5208-3432, Orphanet:90119] +subset: gard_rare {source="GARD:19124"} subset: ordo_disease {source="Orphanet:90119"} synonym: "AR-CMT2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "HMSN with acrodystrophy" EXACT [Orphanet:90119] +xref: GARD:19124 {source="Orphanet:90119"} xref: ICD10CM:G60.0 {source="Orphanet:90119/attributed", source="Orphanet:90119/ntbt", source="Orphanet:90119"} xref: Orphanet:90119 {source="MONDO:equivalentTo"} xref: UMLS:CN206379 {source="MONDO:equivalentTo"} @@ -375208,12 +392267,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019551 name: hereditary motor and sensory neuropathy type 6 +subset: gard_rare {source="GARD:16787"} subset: ordo_disease {source="Orphanet:90120"} synonym: "Charcot-Marie-Tooth disease type 6" EXACT [MONDO:0000856, Orphanet:90120] synonym: "CMT6" EXACT ABBREVIATION [Orphanet:90120] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068] synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120] xref: DOID:0080068 {source="MONDO:equivalentTo"} +xref: GARD:16787 {source="Orphanet:90120"} xref: ICD10CM:G60.0 {source="Orphanet:90120/attributed", source="Orphanet:90120/ntbt", source="Orphanet:90120"} xref: Orphanet:90120 {source="MONDO:equivalentTo"} xref: UMLS:C0393807 {source="Orphanet:90120", source="MONDO:equivalentTo"} @@ -375227,8 +392288,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019552 name: centrifugal lipodystrophy def: "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." [Orphanet:90156] +subset: gard_rare {source="GARD:19125"} subset: ordo_disease {source="Orphanet:90156"} synonym: "lipodystrophia centrifugalis abdominalis infantilis" EXACT [Orphanet:90156] +xref: GARD:19125 {source="Orphanet:90156"} xref: ICD10CM:E88.1 {source="Orphanet:90156", source="Orphanet:90156/ntbt"} xref: Orphanet:90156 {source="MONDO:equivalentTo"} is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy @@ -375237,8 +392300,10 @@ is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy id: MONDO:0019553 name: drug-induced localized lipodystrophy def: "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." [Orphanet:90157] +subset: gard_rare {source="GARD:19126"} subset: ordo_disease {source="Orphanet:90157"} synonym: "lipoatrophy caused by injected drug" EXACT [Orphanet:90157] +xref: GARD:19126 {source="Orphanet:90157"} xref: ICD10CM:E88.1 {source="Orphanet:90157", source="Orphanet:90157/ntbt"} xref: Orphanet:90157 {source="MONDO:equivalentTo"} xref: SCTID:403661001 {source="MONDO:equivalentTo"} @@ -375251,7 +392316,9 @@ intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug id: MONDO:0019554 name: idiopathic localized lipodystrophy def: "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." [Orphanet:90158] +subset: gard_rare {source="GARD:19127"} subset: ordo_disease {source="Orphanet:90158"} +xref: GARD:19127 {source="Orphanet:90158"} xref: ICD10CM:E88.1 {source="Orphanet:90158", source="Orphanet:90158/ntbt"} xref: Orphanet:90158 {source="MONDO:equivalentTo"} xref: UMLS:CN227650 {source="MONDO:equivalentTo"} @@ -375262,9 +392329,11 @@ intersection_of: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0019555 name: panniculitis and localized lipodystrophy +subset: gard_rare {source="GARD:19128"} subset: ordo_disease {source="Orphanet:90159"} synonym: "panniculitis-induced localised lipodystrophy" RELATED OMO:0003005 [] synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159] +xref: GARD:19128 {source="Orphanet:90159"} xref: ICD10CM:E88.1 {source="Orphanet:90159/ntbt", source="Orphanet:90159"} xref: Orphanet:90159 {source="MONDO:equivalentTo"} xref: UMLS:CN227651 {source="MONDO:equivalentTo"} @@ -375276,9 +392345,11 @@ intersection_of: MONDO:0019194 ! localized lipodystrophy id: MONDO:0019556 name: pressure-induced localized lipoatrophy def: "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present." [Orphanet:90160] +subset: gard_rare {source="GARD:19129"} subset: ordo_disease {source="Orphanet:90160"} synonym: "lipoatrophia semicircularis" EXACT [Orphanet:90160] synonym: "semicircular lipoatrophy" EXACT [Orphanet:90160] +xref: GARD:19129 {source="Orphanet:90160"} xref: ICD10CM:E88.1 {source="Orphanet:90160", source="Orphanet:90160/ntbt"} xref: Orphanet:90160 {source="MONDO:equivalentTo"} xref: SCTID:238898001 {source="MONDO:equivalentTo"} @@ -375290,10 +392361,12 @@ id: MONDO:0019557 name: chilblain lupus def: "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." [Orphanet:90280] comment: Editor note: ORDO classifies as genetic and has a separate subclass for familiar form +subset: gard_rare {source="GARD:19130"} subset: ordo_disease {source="Orphanet:90280"} synonym: "CHLE" EXACT ABBREVIATION [PMID:11176709] synonym: "Hutchinson lupus" EXACT [PMID:11176709] xref: DOID:0060386 {source="MONDO:equivalentTo"} +xref: GARD:19130 {source="Orphanet:90280"} xref: ICD10CM:L93.2 {source="Orphanet:90280/attributed", source="Orphanet:90280/ntbt", source="Orphanet:90280"} xref: MedDRA:10025141 {source="Orphanet:90280/e", source="Orphanet:90280"} xref: MESH:C535924 {source="DOID:0060386", source="Orphanet:90280/e", source="Orphanet:90280"} @@ -375311,8 +392384,10 @@ relationship: excluded_subClassOf MONDO:0015948 {source="Orphanet:90280"} ! obso id: MONDO:0019558 name: discoid lupus erythematosus def: "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." [NCIT:C26820] +subset: gard_rare {source="GARD:19131"} subset: ordo_disease {source="Orphanet:90281"} synonym: "DLE" EXACT ABBREVIATION [NCIT:C26820] +xref: GARD:19131 {source="Orphanet:90281"} xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: MedDRA:10013072 {source="Orphanet:90281", source="Orphanet:90281/e"} xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} @@ -375326,7 +392401,9 @@ is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythema [Term] id: MONDO:0019559 name: hypertrophic or verrucous lupus erythematosus +subset: gard_rare {source="GARD:19132"} subset: ordo_disease {source="Orphanet:90282"} +xref: GARD:19132 {source="Orphanet:90282"} xref: ICD10CM:L93.2 {source="Orphanet:90282", source="Orphanet:90282/ntbt"} xref: Orphanet:90282 {source="MONDO:equivalentTo"} xref: UMLS:CN227653 {source="MONDO:equivalentTo"} @@ -375336,11 +392413,12 @@ is_a: MONDO:0015574 {source="Orphanet:90282"} ! chronic cutaneous lupus erythema id: MONDO:0019560 name: lupus erythematosus tumidus def: "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." [https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus] -subset: gard_rare {source="GARD:0013003"} +subset: gard_rare {source="GARD:13003"} subset: ordo_disease {source="Orphanet:90283"} synonym: "intermittent cutaneous lupus" EXACT [Orphanet:90283] synonym: "let" EXACT [NCIT:C117112] synonym: "tumid lupus erythematosus" RELATED [GARD:0013003] +xref: GARD:13003 {source="Orphanet:90283"} xref: ICD10CM:L93.2 {source="Orphanet:90283/ntbt", source="Orphanet:90283"} xref: NCIT:C117112 {source="MONDO:equivalentTo"} xref: Orphanet:90283 {source="MONDO:equivalentTo"} @@ -375354,10 +392432,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13003/lupus- id: MONDO:0019561 name: lupus erythematosus panniculitis def: "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." [MESH:D015435] +subset: gard_rare {source="GARD:19133"} subset: ordo_disease {source="Orphanet:90285"} synonym: "lupus erythematosus profundus" EXACT [Orphanet:90285] synonym: "lupus panniculitis" EXACT [NCIT:C82884] synonym: "lupus profundus" EXACT [NCIT:C82884] +xref: GARD:19133 {source="Orphanet:90285"} xref: ICD10CM:L93.2 {source="Orphanet:90285/ntbt", source="Orphanet:90285"} xref: MESH:D015435 {source="Orphanet:90285", source="MONDO:equivalentTo", source="Orphanet:90285/e"} xref: NCIT:C82884 {source="MONDO:equivalentTo"} @@ -375371,6 +392451,7 @@ is_a: MONDO:0015574 {source="Orphanet:90285"} ! chronic cutaneous lupus erythema id: MONDO:0019562 name: localized scleroderma def: "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." [Orphanet:90289] +subset: gard_rare {source="GARD:7058"} subset: ordo_disease {source="Orphanet:90289"} synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM:701.0] synonym: "localised fibrosing scleroderma" EXACT OMO:0003005 [] @@ -375388,6 +392469,7 @@ synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472] synonym: "Scleroderma, localised" RELATED OMO:0003005 [] synonym: "Scleroderma, localized" RELATED [GARD:0007058] xref: DOID:8472 {source="MONDO:equivalentTo"} +xref: GARD:7058 {source="Orphanet:90289"} xref: ICD10CM:L94.0 {source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"} xref: ICD9:701.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8472"} xref: MedDRA:10039712 {source="Orphanet:90289", source="Orphanet:90289/e"} @@ -375445,6 +392527,7 @@ replaced_by: MONDO:0005100 id: MONDO:0019565 name: hereditary von Willebrand disease def: "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." [Orphanet:903] +subset: gard_rare {source="GARD:7867"} subset: ordo_disease {source="Orphanet:903"} synonym: "congenital von willebrand disease" RELATED [] synonym: "congenital von willebrand's disease" EXACT [] @@ -375460,6 +392543,7 @@ synonym: "von Willebrand's-Jurgens' disease" BROAD [DOID:12531] synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531] synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531] xref: DOID:12531 {source="MONDO:equivalentTo"} +xref: GARD:7867 {source="Orphanet:903"} xref: ICD10CM:D68.0 {source="Orphanet:903/specific", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"} xref: ICD10CM:D69.8 {source="DOID:12531"} xref: ICD9:286.4 {source="DOID:12531"} @@ -375546,6 +392630,7 @@ relationship: has_characteristic HP:0000006 {source="Orphanet:90318"} ! Autosoma id: MONDO:0019569 name: Cockayne syndrome type 1 def: "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." [NCIT:C135725] +subset: gard_rare {source="GARD:1415", source="GARD:15154"} subset: ordo_clinical_subtype {source="Orphanet:90321"} synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400] synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] @@ -375559,6 +392644,8 @@ synonym: "Cockayne syndrome, type A" EXACT [OMIM:216400, OMIM:genemap2] synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216400] synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080907 {source="MONDO:equivalentTo"} +xref: GARD:1415 {source="Orphanet:90321"} +xref: GARD:15154 {source="OMIM:216400"} xref: ICD10CM:Q87.8 {source="Orphanet:90321", source="Orphanet:90321/attributed", source="Orphanet:90321/ntbt"} xref: NCIT:C135725 {source="MONDO:equivalentTo"} xref: OMIM:216400 {source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/btnt"} @@ -375580,6 +392667,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1415/cockayn id: MONDO:0019570 name: Cockayne syndrome type 2 def: "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." [NCIT:C135726] +subset: gard_rare {source="GARD:1420", source="GARD:15067"} subset: ordo_clinical_subtype {source="Orphanet:90322"} synonym: "Cockayne syndrome B" EXACT [MONDO:0007582, MONDO:Lexical, OMIM:133540] synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420] @@ -375588,6 +392676,8 @@ synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322] synonym: "Cockayne syndrome, type B" EXACT [OMIM:133540, OMIM:genemap2] synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133540] xref: DOID:0080908 {source="MONDO:equivalentTo"} +xref: GARD:1420 {source="Orphanet:90322"} +xref: GARD:15067 {source="OMIM:133540"} xref: ICD10CM:Q87.8 {source="Orphanet:90322", source="Orphanet:90322/attributed", source="Orphanet:90322/ntbt"} xref: NCIT:C135726 {source="MONDO:equivalentTo"} xref: OMIM:133540 {source="MONDO:equivalentTo", source="Orphanet:90322", source="Orphanet:90322/btnt"} @@ -375606,11 +392696,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019571 name: autosomal dominant cutis laxa def: "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." [Orphanet:90348] -subset: gard_rare {source="GARD:0001639"} +subset: gard_rare {source="GARD:1639"} subset: ordo_disease {source="Orphanet:90348"} synonym: "ADCL" EXACT ABBREVIATION [DOID:0070142, Orphanet:90348] synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0070142 {source="MONDO:equivalentTo"} +xref: GARD:1639 {source="Orphanet:90348"} xref: ICD10CM:Q82.8 {source="DOID:0070142", source="Orphanet:90348/attributed", source="Orphanet:90348/ntbt", source="Orphanet:90348"} xref: MESH:C562627 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} @@ -375627,6 +392718,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1639/cutis-l id: MONDO:0019572 name: autosomal recessive cutis laxa type 1 def: "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." [Orphanet:90349] +subset: gard_rare {source="GARD:8480"} subset: ordo_disease {source="Orphanet:90349"} synonym: "ARCL1" EXACT ABBREVIATION [Orphanet:90349] synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144] @@ -375636,6 +392728,7 @@ synonym: "autosomal recessive cutis laxa, pulmonary emphysema type" EXACT [Orpha synonym: "cutis laxa, autosomal recessive type 1" RELATED [GARD:0008480] synonym: "cutis laxa, type 1" RELATED [GARD:0008480] xref: DOID:0070144 {source="MONDO:equivalentTo"} +xref: GARD:8480 {source="Orphanet:90349"} xref: ICD10CM:Q82.8 {source="Orphanet:90349/attributed", source="Orphanet:90349/ntbt", source="Orphanet:90349"} xref: MESH:C536225 {source="MONDO:equivalentTo"} xref: Orphanet:90349 {source="MONDO:equivalentTo"} @@ -375656,9 +392749,11 @@ id: MONDO:0019573 name: autosomal recessive cutis laxa type 2 def: "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." [https://orcid.org/0000-0001-5208-3432, Orphanet:90350] subset: disease_grouping +subset: gard_rare {source="GARD:19134"} subset: ordo_group_of_disorders {source="Orphanet:90350"} synonym: "ARCL2" EXACT ABBREVIATION [Orphanet:90350] synonym: "cutis laxa with joint laxity and developmental delay" EXACT [Orphanet:90350] +xref: GARD:19134 {source="Orphanet:90350"} xref: ICD10CM:Q82.8 {source="Orphanet:90350", source="Orphanet:90350/attributed", source="Orphanet:90350/ntbt"} xref: Orphanet:90350 {source="MONDO:equivalentTo"} xref: UMLS:C0432337 {source="Orphanet:90350", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90350/e"} @@ -375673,7 +392768,9 @@ relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0019574 name: secondary intestinal lymphangiectasia def: "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." [Orphanet:90363] +subset: gard_rare {source="GARD:19135"} subset: ordo_disease {source="Orphanet:90363"} +xref: GARD:19135 {source="Orphanet:90363"} xref: ICD10CM:I89.0 {source="Orphanet:90363/ntbt", source="Orphanet:90363"} xref: Orphanet:90363 {source="MONDO:equivalentTo"} xref: SCTID:717255008 {source="MONDO:equivalentTo"} @@ -375684,8 +392781,10 @@ is_a: MONDO:0018178 {source="Orphanet:90363"} ! intestinal lymphangiectasia id: MONDO:0019575 name: hypotrichosis simplex of the scalp def: "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." [Orphanet:90368] +subset: gard_rare {source="GARD:16789"} subset: ordo_disease {source="Orphanet:90368"} synonym: "hereditary hypotrichosis simplex of the scalp" EXACT [Orphanet:90368] +xref: GARD:16789 {source="Orphanet:90368"} xref: ICD10CM:L65.8 {source="Orphanet:90368/attributed", source="Orphanet:90368/ntbt", source="Orphanet:90368"} xref: Orphanet:90368 {source="MONDO:equivalentTo"} xref: SCTID:717256009 {source="MONDO:equivalentTo"} @@ -375695,7 +392794,9 @@ is_a: MONDO:0004907 {source="Orphanet:90368"} ! alopecia [Term] id: MONDO:0019576 name: telangiectasia macularis eruptiva perstans +subset: gard_rare {source="GARD:19136"} subset: ordo_clinical_subtype {source="Orphanet:90389"} +xref: GARD:19136 {source="Orphanet:90389"} xref: ICD10CM:Q82.2 {source="Orphanet:90389", source="Orphanet:90389/ntbt"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043192 {source="Orphanet:90389", source="Orphanet:90389/e"} @@ -375707,7 +392808,9 @@ is_a: MONDO:0019316 {source="Orphanet:90389"} ! maculopapular cutaneous mastocyt [Term] id: MONDO:0019577 name: anonychia-onychodystrophy syndrome +subset: gard_rare {source="GARD:710"} subset: ordo_clinical_subtype {source="Orphanet:90390"} +xref: GARD:710 {source="Orphanet:90390"} xref: ICD10CM:Q84.3 {source="Orphanet:90390/attributed", source="Orphanet:90390/ntbt", source="Orphanet:90390"} xref: MESH:C536378 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"} xref: Orphanet:90390 {source="MONDO:equivalentTo"} @@ -375718,8 +392821,10 @@ is_a: MONDO:0019211 {source="Orphanet:90390"} ! isolated congenital anonychia id: MONDO:0019578 name: nodular lichen myxedematosus def: "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." [Orphanet:90393] +subset: gard_rare {source="GARD:19137"} subset: ordo_disease {source="Orphanet:90393"} synonym: "atypical tuberous myxedema of Jadassohn-Dosseker" EXACT [Orphanet:90393] +xref: GARD:19137 {source="Orphanet:90393"} xref: ICD10CM:L98.5 {source="Orphanet:90393/ntbt", source="Orphanet:90393"} xref: Orphanet:90393 {source="MONDO:equivalentTo"} xref: SCTID:717257000 {source="MONDO:equivalentTo"} @@ -375730,7 +392835,9 @@ is_a: MONDO:0019446 {source="Orphanet:90393", source="https://www.dermnetnz.org/ id: MONDO:0019579 name: discrete papular lichen myxedematosus def: "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." [Orphanet:90394] +subset: gard_rare {source="GARD:19138"} subset: ordo_disease {source="Orphanet:90394"} +xref: GARD:19138 {source="Orphanet:90394"} xref: ICD10CM:L98.5 {source="Orphanet:90394", source="Orphanet:90394/ntbt"} xref: Orphanet:90394 {source="MONDO:equivalentTo"} xref: SCTID:717258005 {source="MONDO:equivalentTo"} @@ -375741,8 +392848,10 @@ is_a: MONDO:0019446 {source="Orphanet:90394", source="https://www.dermnetnz.org/ id: MONDO:0019580 name: papular mucinosis of infancy def: "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." [Orphanet:90395] +subset: gard_rare {source="GARD:19139"} subset: ordo_disease {source="Orphanet:90395"} synonym: "cutaneous mucinosis of infancy" EXACT [Orphanet:90395] +xref: GARD:19139 {source="Orphanet:90395"} xref: ICD10CM:L98.5 {source="Orphanet:90395/ntbt", source="Orphanet:90395"} xref: Orphanet:90395 {source="MONDO:equivalentTo"} xref: SCTID:717259002 {source="MONDO:equivalentTo"} @@ -375753,7 +392862,9 @@ is_a: MONDO:0019446 {source="Orphanet:90395", source="https://www.dermnetnz.org/ id: MONDO:0019581 name: acral persistent papular mucinosis def: "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." [Orphanet:90396] +subset: gard_rare {source="GARD:19140"} subset: ordo_disease {source="Orphanet:90396"} +xref: GARD:19140 {source="Orphanet:90396"} xref: ICD10CM:L98.5 {source="Orphanet:90396/ntbt", source="Orphanet:90396"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:90396 {source="MONDO:equivalentTo"} @@ -375765,7 +392876,9 @@ is_a: MONDO:0019446 {source="Orphanet:90396", source="https://www.dermnetnz.org/ id: MONDO:0019582 name: self-healing papular mucinosis def: "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." [Orphanet:90397] +subset: gard_rare {source="GARD:19141"} subset: ordo_disease {source="Orphanet:90397"} +xref: GARD:19141 {source="Orphanet:90397"} xref: ICD10CM:L98.5 {source="Orphanet:90397", source="Orphanet:90397/ntbt"} xref: Orphanet:90397 {source="MONDO:equivalentTo"} is_a: MONDO:0019446 {source="Orphanet:90397", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus @@ -375774,7 +392887,9 @@ is_a: MONDO:0019446 {source="Orphanet:90397", source="https://www.dermnetnz.org/ id: MONDO:0019583 name: localized lichen myxedematosus with mixed features of different subtypes def: "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." [Orphanet:90398] +subset: gard_rare {source="GARD:19142"} subset: ordo_clinical_subtype {source="Orphanet:90398"} +xref: GARD:19142 {source="Orphanet:90398"} xref: ICD10CM:L98.5 {source="Orphanet:90398", source="Orphanet:90398/ntbt"} xref: Orphanet:90398 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90398"} ! atypical lichen myxedematosus @@ -375783,7 +392898,9 @@ is_a: MONDO:0019447 {source="Orphanet:90398"} ! atypical lichen myxedematosus id: MONDO:0019584 name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms def: "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." [Orphanet:90399] +subset: gard_rare {source="GARD:19143"} subset: ordo_clinical_subtype {source="Orphanet:90399"} +xref: GARD:19143 {source="Orphanet:90399"} xref: ICD10CM:L98.5 {source="Orphanet:90399", source="Orphanet:90399/ntbt"} xref: Orphanet:90399 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90399"} ! atypical lichen myxedematosus @@ -375792,7 +392909,9 @@ is_a: MONDO:0019447 {source="Orphanet:90399"} ! atypical lichen myxedematosus id: MONDO:0019585 name: scleromyxedema without monoclonal gammopathy def: "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." [Orphanet:90400] +subset: gard_rare {source="GARD:19144"} subset: ordo_clinical_subtype {source="Orphanet:90400"} +xref: GARD:19144 {source="Orphanet:90400"} xref: ICD10CM:L98.5 {source="Orphanet:90400", source="Orphanet:90400/ntbt"} xref: Orphanet:90400 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90400"} ! atypical lichen myxedematosus @@ -375803,7 +392922,7 @@ name: X-linked nonsyndromic hearing loss def: "X-linked form of nonsyndromic deafness." [MONDO:patterns/x_linked] comment: ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:16790"} synonym: "nonsyndromic deafness, X-linked" NARROW [MONDO:patterns/x_linked] synonym: "nonsyndromic genetic deafness, X-linked" NARROW [MONDO:patterns/x_linked] synonym: "X-linked deafness" NARROW [DOID:0050566] @@ -375818,6 +392937,7 @@ synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orp synonym: "X-linked nonsyndromic deafness" NARROW [] synonym: "X-linked nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} +xref: GARD:16790 {source="Orphanet:90625"} xref: ICD10CM:H90.3 {source="DOID:0050566", source="Orphanet:90625/attributed", source="Orphanet:90625/ntbt", source="Orphanet:90625"} xref: OMIMPS:304500 {source="DOID:0050566"} xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"} @@ -375834,6 +392954,7 @@ id: MONDO:0019587 name: autosomal dominant nonsyndromic hearing loss def: "Autosomal dominant form of nonsyndromic deafness." [MONDO:patterns/autosomal_dominant] subset: clingen +subset: gard_rare {source="GARD:16791"} subset: ordo_etiological_subtype {source="Orphanet:90635"} synonym: "autosomal dominant deafness" BROAD [DOID:0050564] synonym: "autosomal dominant isolated deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] @@ -375853,6 +392974,7 @@ synonym: "deafness, autosomal dominant" NARROW [OMIMPS:124900] synonym: "nonsyndromic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] synonym: "nonsyndromic genetic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] xref: DOID:0050564 {source="MONDO:equivalentTo"} +xref: GARD:16791 {source="Orphanet:90635"} xref: ICD10CM:H90.3 {source="DOID:0050564", source="Orphanet:90635/attributed", source="Orphanet:90635/ntbt", source="Orphanet:90635"} xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"} @@ -375869,7 +392991,7 @@ id: MONDO:0019588 name: hearing loss, autosomal recessive def: "Autosomal recessive form of nonsyndromic deafness." [MONDO:patterns/autosomal_recessive] subset: clingen -subset: gard_rare +subset: gard_rare {source="GARD:18117", source="GARD:18644"} subset: ordo_etiological_subtype {source="Orphanet:90636"} subset: prototype_pattern synonym: "autosomal recessive isolated neurosensory deafness type DFNB" NARROW [Orphanet:90636] @@ -375883,6 +393005,8 @@ synonym: "deafness, neurosensory nonsyndromic recessive, DFN" NARROW [GARD:00017 synonym: "nonsyndromic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] synonym: "nonsyndromic genetic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] xref: DOID:0050565 {source="MONDO:equivalentTo"} +xref: GARD:18117 {source="OMIM:607197"} +xref: GARD:18644 {source="Orphanet:90636"} xref: ICD10CM:H90.3 {source="DOID:0050565", source="Orphanet:90636/attributed", source="Orphanet:90636/ntbt", source="Orphanet:90636"} xref: MESH:C564609 {source="MONDO:equivalentTo"} xref: OMIM:607197 {source="DOID:0050565", source="MONDO:equivalentTo"} @@ -375901,9 +393025,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019589 name: obsolete syndromic genetic hearing loss +subset: gard_rare {source="GARD:19145"} subset: ordo_group_of_disorders {source="Orphanet:90642"} synonym: "syndromic genetic deafness" NARROW CLINGEN_PREFERRED [] synonym: "syndromic hearing loss" BROAD [] +xref: GARD:19145 {source="MONDO:obsoleteEquivalent", source="Orphanet:90642"} xref: ICD10CM:H90.3 {source="Orphanet:90642", source="Orphanet:90642/attributed", source="Orphanet:90642/ntbt"} xref: Orphanet:90642 {source="MONDO:obsoleteEquivalent"} xref: SCTID:232333009 {source="MONDO:obsoleteEquivalent"} @@ -375918,7 +393044,9 @@ consider: MONDO:0005365 id: MONDO:0019590 name: obsolete rare endocrine growth disease subset: disease_grouping +subset: gard_rare {source="GARD:19146"} subset: ordo_group_of_disorders {source="Orphanet:90692"} +xref: GARD:19146 {source="MONDO:obsoleteEquivalent", source="Orphanet:90692"} xref: Orphanet:90692 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206437 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -375930,11 +393058,13 @@ is_obsolete: true id: MONDO:0019591 name: panhypopituitarism def: "Insufficient production of all the anterior pituitary hormones." [NCIT:P378] +subset: gard_rare {source="GARD:15020"} subset: ordo_disease {source="Orphanet:90695"} synonym: "complete hypopituitarism" EXACT [NCIT:C110940] synonym: "Simmond's disease" EXACT [DOID:9410] synonym: "Simmonds' disease" EXACT [DOID:9410] xref: DOID:9410 {source="MONDO:equivalentTo"} +xref: GARD:15020 {source="Orphanet:90695"} xref: ICD10CM:E23.0 {source="Orphanet:90695/inclusion", source="Orphanet:90695", source="DOID:9410", source="Orphanet:90695/ntbt"} xref: ICD9:253.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9410"} xref: MedDRA:10033662 {source="Orphanet:90695", source="Orphanet:90695/e"} @@ -375962,8 +393092,10 @@ replaced_by: MONDO:0002145 [Term] id: MONDO:0019593 name: obsolete 46,XX disorder of sex development induced by fetal androgens excess +subset: gard_rare {source="GARD:19148"} synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 [] +xref: GARD:19148 {source="MONDO:obsoleteEquivalent", source="Orphanet:90776"} xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"} xref: Orphanet:90776 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227655 {source="MONDO:obsoleteEquivalent"} @@ -375978,8 +393110,10 @@ is_obsolete: true id: MONDO:0019594 name: obsolete 46,XY disorder of sex development due to a testosterone synthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:19149"} subset: ordo_group_of_disorders {source="Orphanet:90783"} synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [Orphanet:90783] +xref: GARD:19149 {source="MONDO:obsoleteEquivalent", source="Orphanet:90783"} xref: Orphanet:90783 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227656 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -375991,8 +393125,10 @@ consider: MONDO:0017969 id: MONDO:0019595 name: obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:19150"} subset: ordo_group_of_disorders {source="Orphanet:90786"} synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [Orphanet:90786] +xref: GARD:19150 {source="MONDO:obsoleteEquivalent", source="Orphanet:90786"} xref: Orphanet:90786 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227657 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -376004,8 +393140,10 @@ consider: MONDO:0017969 id: MONDO:0019596 name: obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:19151"} subset: ordo_group_of_disorders {source="Orphanet:90787"} synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787] +xref: GARD:19151 {source="MONDO:obsoleteEquivalent", source="Orphanet:90787"} xref: ICD10CM:E29.1 {source="Orphanet:90787", source="Orphanet:90787/attributed", source="Orphanet:90787/ntbt"} xref: Orphanet:90787 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227658 {source="MONDO:obsoleteEquivalent"} @@ -376018,6 +393156,8 @@ consider: MONDO:0017969 id: MONDO:0019597 name: obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency def: "OBSOLETE. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796] +subset: gard_rare {source="GARD:16794"} +xref: GARD:16794 {source="MONDO:obsoleteEquivalent", source="Orphanet:90796"} xref: ICD10CM:E29.1 {source="Orphanet:90796", source="Orphanet:90796/attributed", source="Orphanet:90796/ntbt"} xref: Orphanet:90796 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0268285 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90796"} @@ -376042,6 +393182,8 @@ replaced_by: MONDO:0010383 id: MONDO:0019599 name: obsolete primary lipodystrophy def: "OBSOLETE. Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970] +subset: gard_rare {source="GARD:12596"} +xref: GARD:12596 {source="MONDO:obsoleteEquivalent", source="Orphanet:90970"} xref: ICD10CM:E88.1 {source="Orphanet:90970", source="Orphanet:90970/attributed", source="Orphanet:90970/ntbt"} xref: Orphanet:90970 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -376053,7 +393195,7 @@ is_obsolete: true id: MONDO:0019600 name: xeroderma pigmentosum def: "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." [Orphanet:910] -subset: gard_rare {source="GARD:0007910"} +subset: gard_rare {source="GARD:7910"} subset: ordo_disease {source="Orphanet:910"} synonym: "angioma pigmentosum atrophicum" EXACT [NCIT:C3452] synonym: "atrophoderma pigmentosum" EXACT [NCIT:C3452] @@ -376066,6 +393208,7 @@ synonym: "xeroderma pigmentosa" RELATED [GARD:0007910] synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452] synonym: "XP" EXACT ABBREVIATION [Orphanet:910] xref: DOID:0050427 {source="MONDO:equivalentTo"} +xref: GARD:7910 {source="Orphanet:910"} xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"} xref: MedDRA:10048220 {source="Orphanet:910", source="Orphanet:910/e"} xref: MESH:D014983 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/e"} @@ -376085,10 +393228,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7910/xeroder id: MONDO:0019601 name: obsolete autosomal recessive axonal hereditary motor and sensory neuropathy def: "OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:12449"} subset: ordo_group_of_disorders {source="Orphanet:91024"} synonym: "AR-CMT2" EXACT [Orphanet:91024] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024] synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:12449 {source="MONDO:obsoleteEquivalent", source="Orphanet:91024"} xref: ICD10CM:G60.0 {source="Orphanet:91024/inclusion", source="Orphanet:91024", source="Orphanet:91024/ntbt"} xref: Orphanet:91024 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206449 {source="MONDO:obsoleteEquivalent"} @@ -376101,8 +393246,10 @@ consider: MONDO:0005244 id: MONDO:0019602 name: obsolete other inborn metabolic disease subset: disease_grouping +subset: gard_rare {source="GARD:19152"} subset: ordo_group_of_disorders {source="Orphanet:91088"} synonym: "other metabolic disease" RELATED [Orphanet:91088] +xref: GARD:19152 {source="MONDO:obsoleteEquivalent", source="Orphanet:91088"} xref: Orphanet:91088 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -376127,9 +393274,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019604 name: acquired monoclonal Ig light chain-associated Fanconi syndrome def: "A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia." [Orphanet:91136] +subset: gard_rare {source="GARD:19154"} subset: ordo_disease {source="Orphanet:91136"} synonym: "acquired Fanconi syndrome secondary to monoclonal gammopathy" EXACT [Orphanet:91136] synonym: "acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome" EXACT [Orphanet:91136] +xref: GARD:19154 {source="Orphanet:91136"} xref: ICD10CM:E72.0 {source="Orphanet:91136", source="Orphanet:91136/ntbt"} xref: Orphanet:91136 {source="MONDO:equivalentTo"} xref: SCTID:724099000 {source="MONDO:equivalentTo"} @@ -376142,10 +393291,11 @@ id: MONDO:0019605 name: immunotactoid or fibrillary glomerulopathy def: "A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." [https://orcid.org/0000-0001-5208-3432, Orphanet:91137] subset: disease_grouping -subset: gard_rare {source="GARD:0012741"} +subset: gard_rare {source="GARD:12741"} subset: ordo_group_of_disorders {source="Orphanet:91137"} synonym: "fibrillary glomerulonephritis and immunotactoid glomerulopathy" RELATED [GARD:0012741] synonym: "Immunotactoid or fibrillary glomerulonephritis" EXACT [Orphanet:91137] +xref: GARD:12741 {source="Orphanet:91137"} xref: ICD10CM:N03.6 {source="Orphanet:91137", source="Orphanet:91137/ntbt"} xref: Orphanet:91137 {source="MONDO:equivalentTo"} is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder @@ -376156,8 +393306,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12741/immuno id: MONDO:0019606 name: simple cryoglobulinemia def: "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." [Orphanet:91139] +subset: gard_rare {source="GARD:6217"} subset: ordo_disease {source="Orphanet:91139"} synonym: "cryoglobulinemia type 1" EXACT [Orphanet:91139] +xref: GARD:6217 {source="Orphanet:91139"} xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91139", source="Orphanet:91139/ntbt"} xref: Orphanet:91139 {source="MONDO:equivalentTo"} xref: SCTID:723674005 {source="MONDO:equivalentTo"} @@ -376169,8 +393321,10 @@ is_a: MONDO:0015923 {source="Orphanet:91139"} ! acquired peripheral neuropathy id: MONDO:0019607 name: unspecified juvenile idiopathic arthritis def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." [Orphanet:91140] +subset: gard_rare {source="GARD:19155"} subset: ordo_disease {source="Orphanet:91140"} synonym: "unspecified JIA" EXACT [Orphanet:91140] +xref: GARD:19155 {source="Orphanet:91140"} xref: ICD10CM:M08.8 {source="Orphanet:91140", source="Orphanet:91140/ntbt"} xref: Orphanet:91140 {source="MONDO:equivalentTo"} is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis @@ -376178,7 +393332,9 @@ is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis [Term] id: MONDO:0019608 name: obsolete 46,XX disorder of sex development induced by maternal-derived androgen +subset: gard_rare {source="GARD:19156"} synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144] +xref: GARD:19156 {source="MONDO:obsoleteEquivalent", source="Orphanet:91144"} xref: ICD10CM:Q56.2 {source="Orphanet:91144/ntbt", source="Orphanet:91144"} xref: Orphanet:91144 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227662 {source="MONDO:obsoleteEquivalent"} @@ -376194,6 +393350,7 @@ id: MONDO:0019609 name: Zellweger spectrum disorders def: "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." [Orphanet:912] comment: Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 +subset: gard_rare {source="GARD:7917"} subset: ordo_disease {source="Orphanet:912"} synonym: "cerebrohepatorenal syndrome" EXACT [DOID:905, Orphanet:912] synonym: "congenital iron overload" EXACT [DOID:905] @@ -376204,6 +393361,7 @@ synonym: "Zellweger syndrome" EXACT [https://github.com/monarch-initiative/mondo synonym: "ZS" EXACT ABBREVIATION [Orphanet:912] synonym: "ZWS" EXACT ABBREVIATION [GARD:0007917] xref: DOID:905 {source="MONDO:equivalentTo"} +xref: GARD:7917 {source="Orphanet:912"} xref: ICD10CM:E71.510 {source="MONDO:equivalentTo", source="DOID:905"} xref: ICD10CM:Q87.8 {source="Orphanet:912/inclusion", source="Orphanet:912", source="Orphanet:912/ntbt"} xref: MESH:D015211 {source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} @@ -376224,6 +393382,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/25 id: MONDO:0019610 name: Zollinger-Ellison syndrome def: "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." [Orphanet:913] +subset: gard_rare {source="GARD:7918"} subset: ordo_disease {source="Orphanet:913"} synonym: "gastrinoma" RELATED [Orphanet:913] synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918] @@ -376236,6 +393395,7 @@ synonym: "Zollinger-Ellison syndrome" EXACT [MONDO:ambiguous, NCIT:C3453] synonym: "Zollinger-Ellison syndrome (disease)" EXACT [MONDO:0006020] xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"} xref: EFO:0007549 {source="MONDO:equivalentTo"} +xref: GARD:7918 {source="Orphanet:913"} xref: HP:0002044 {source="MONDO:otherHierarchy"} xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="Orphanet:913", source="Orphanet:913/ntbt"} xref: ICD10CM:E16.4 {source="DOID:0050782", source="Orphanet:913", source="Orphanet:913/ntbt"} @@ -376263,6 +393423,7 @@ relationship: excluded_subClassOf MONDO:0005070 {source="EFO:0007549", source="M id: MONDO:0019611 name: TSH-secreting pituitary adenoma def: "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." [NCIT:C8011] +subset: gard_rare {source="GARD:19157"} subset: ordo_disease {source="Orphanet:91347"} synonym: "pituitary thyrotrophic adenoma" EXACT [Orphanet:91347] synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [NCIT:C8011] @@ -376300,6 +393461,7 @@ synonym: "TSH-oma" EXACT [Orphanet:91347] synonym: "TSH-producing adenoma" EXACT [NCIT:C8011] synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSHoma" EXACT [NCIT:C8011] +xref: GARD:19157 {source="Orphanet:91347"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"} xref: NCIT:C8011 {source="MONDO:equivalentObsolete"} xref: Orphanet:91347 {source="MONDO:equivalentTo"} @@ -376312,9 +393474,11 @@ is_a: MONDO:0006373 {source="MONDO:0019611/inferred", source="MONDO:Redundant", id: MONDO:0019612 name: functioning gonadotropic adenoma def: "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." [Orphanet:91348] +subset: gard_rare {source="GARD:19158"} subset: ordo_disease {source="Orphanet:91348"} synonym: "functioning pituitary gonadotropic adenoma" EXACT [Orphanet:91348] synonym: "gonadotroph adenoma" EXACT [Orphanet:91348] +xref: GARD:19158 {source="Orphanet:91348"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91348", source="Orphanet:91348/ntbt"} xref: Orphanet:91348 {source="MONDO:equivalentTo"} xref: SCTID:254960002 {source="MONDO:equivalentTo"} @@ -376327,6 +393491,7 @@ intersection_of: realized_in GO:0032274 ! gonadotropin secretion id: MONDO:0019613 name: non-functioning pituitary adenoma def: "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." [NCIT:C4348] +subset: gard_rare {source="GARD:19159"} subset: ordo_disease {source="Orphanet:91349"} synonym: "functionless adenoma of pituitary" EXACT [NCIT:C4348] synonym: "functionless adenoma of pituitary gland" EXACT [NCIT:C4348] @@ -376352,6 +393517,7 @@ synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "silent pituitary gland adenoma" EXACT [NCIT:C4348] xref: DOID:5715 {source="MONDO:equivalentTo"} xref: EFO:0008516 {source="MONDO:equivalentTo"} +xref: GARD:19159 {source="Orphanet:91349"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91349/ntbt", source="Orphanet:91349"} xref: NCIT:C4348 {source="MONDO:equivalentTo", source="DOID:5715"} xref: Orphanet:91349 {source="MONDO:equivalentTo"} @@ -376366,8 +393532,10 @@ intersection_of: has_characteristic NCIT:C45980 ! Absence of a Hormonal Syndrome [Term] id: MONDO:0019614 name: pituitary deficiency due to Rathke's pouch cysts +subset: gard_rare {source="GARD:19160"} subset: ordo_disease {source="Orphanet:91350"} synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [Orphanet:91350] +xref: GARD:19160 {source="Orphanet:91350"} xref: ICD10CM:E23.0 {source="Orphanet:91350/ntbt", source="MONDO:relatedTo", source="Orphanet:91350"} xref: Orphanet:91350 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 {source="https://orcid.org/0000-0001-5208-3432"} ! pituitary deficiency @@ -376376,7 +393544,9 @@ relationship: disease_arises_from_structure UBERON:0005356 ! Rathke's pouch [Term] id: MONDO:0019615 name: pituitary dermoid and epidermoid cysts +subset: gard_rare {source="GARD:19161"} subset: ordo_disease {source="Orphanet:91351"} +xref: GARD:19161 {source="Orphanet:91351"} xref: Orphanet:91351 {source="MONDO:equivalentTo"} is_a: MONDO:0021227 {source="Orphanet:91351"} ! adrenal gland neoplasm @@ -376389,8 +393559,10 @@ replaced_by: MONDO:0002999 [Term] id: MONDO:0019617 name: pituitary deficiency due to empty sella turcica syndrome +subset: gard_rare {source="GARD:19163"} subset: ordo_disease {source="Orphanet:91354"} synonym: "hypopituitarism due to empty sella turcica syndrome" EXACT [Orphanet:91354] +xref: GARD:19163 {source="Orphanet:91354"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="Orphanet:91354/ntbt"} xref: Orphanet:91354 {source="MONDO:equivalentTo"} xref: SCTID:715668008 {source="MONDO:equivalentTo"} @@ -376402,6 +393574,7 @@ is_a: MONDO:0015127 {source="https://orcid.org/0000-0001-5208-3432"} ! pituitary id: MONDO:0019618 name: Sheehan syndrome def: "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." [NCIT:P378] +subset: gard_rare {source="GARD:7630"} subset: ordo_malformation_syndrome {source="Orphanet:91355"} synonym: "postpartum hypopituitarism" EXACT [DOID:9476, NCIT:C35300] synonym: "postpartum panhypopituitarism" RELATED [GARD:0007630] @@ -376409,6 +393582,7 @@ synonym: "postpartum panhypopituitary syndrome" RELATED [GARD:0007630] synonym: "postpartum pituitary necrosis" RELATED [GARD:0007630] synonym: "Sheehan's syndrome" EXACT [DOID:9476] xref: DOID:9476 {source="MONDO:equivalentTo"} +xref: GARD:7630 {source="Orphanet:91355"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/ntbt"} xref: MedDRA:10036297 {source="Orphanet:91355", source="Orphanet:91355/e"} xref: MESH:D007018 {source="MONDO:relatedTo", source="DOID:9476"} @@ -376427,7 +393601,9 @@ is_a: MONDO:0002254 {source="NCIT:C35300"} ! syndromic disease [Term] id: MONDO:0019619 name: obsolete duplication of the esophagus +subset: gard_rare {source="GARD:19164"} subset: ordo_group_of_disorders {source="Orphanet:91357"} +xref: GARD:19164 {source="MONDO:obsoleteEquivalent", source="Orphanet:91357"} xref: ICD10CM:Q39.8 {source="Orphanet:91357", source="Orphanet:91357/attributed", source="Orphanet:91357/ntbt"} xref: Orphanet:91357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -376440,8 +393616,10 @@ is_obsolete: true id: MONDO:0019620 name: congenital esophageal diverticulum def: "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." [Orphanet:91358] +subset: gard_rare {source="GARD:19165"} subset: ordo_morphological_anomaly {source="Orphanet:91358"} synonym: "congenital esophageal pouch" EXACT [Orphanet:91358] +xref: GARD:19165 {source="Orphanet:91358"} xref: ICD10CM:Q39.6 {source="Orphanet:91358/attributed", source="Orphanet:91358/ntbt", source="Orphanet:91358"} xref: ICD9:750.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:91358 {source="MONDO:equivalentTo"} @@ -376456,8 +393634,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019621 name: chronic pneumonitis of infancy def: "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." [Orphanet:91359] +subset: gard_rare {source="GARD:19166"} subset: ordo_disease {source="Orphanet:91359"} synonym: "CPI" EXACT ABBREVIATION [Orphanet:91359] +xref: GARD:19166 {source="Orphanet:91359"} xref: ICD10CM:J84.0 {source="Orphanet:91359", source="Orphanet:91359/ntbt"} xref: Orphanet:91359 {source="MONDO:equivalentTo"} xref: SCTID:708026002 {source="MONDO:equivalentTo"} @@ -376470,11 +393650,13 @@ relationship: disease_has_inflammation_site UBERON:0002048 ! lung id: MONDO:0019622 name: non-specific interstitial pneumonia def: "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." [NCIT:C35717] +subset: gard_rare {source="GARD:19167"} subset: ordo_disease {source="Orphanet:91364"} synonym: "non-specific idiopathic interstitial pneumonia" EXACT [Orphanet:91364] synonym: "nonspecific interstitial pneumonia" EXACT [MONDO:0002431] synonym: "NSIP" EXACT ABBREVIATION [DOID:2801, Orphanet:91364] xref: DOID:2801 {source="MONDO:equivalentTo"} +xref: GARD:19167 {source="Orphanet:91364"} xref: ICD10CM:J84.8 {source="Orphanet:91364/ntbt", source="Orphanet:91364"} xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35717 {source="MONDO:equivalentTo", source="DOID:2801"} @@ -376487,6 +393669,7 @@ is_a: MONDO:0002429 {source="DOID:2801", source="NCIT:C35717", source="Orphanet: id: MONDO:0019623 name: hereditary angioedema def: "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:91378] +subset: gard_rare {source="GARD:5979"} subset: ordo_disease {source="Orphanet:91378"} synonym: "angioedema, hereditary" RELATED [GARD:0005979] synonym: "deficiency of C1 esterase inhibitor" RELATED [GARD:0005979] @@ -376500,6 +393683,7 @@ synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 [] synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378] synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} +xref: GARD:5979 {source="Orphanet:91378"} xref: ICD10CM:D84.1 {source="Orphanet:91378/inclusion", source="Orphanet:91378", source="Orphanet:91378/ntbt"} xref: MedDRA:10019860 {source="Orphanet:91378", source="Orphanet:91378/e"} xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"} @@ -376519,7 +393703,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:106100"} ! inheri id: MONDO:0019624 name: acquired angioedema def: "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." [Orphanet:91385] -subset: gard_rare {source="GARD:0008605"} +subset: gard_rare {source="GARD:8605"} subset: ordo_disease {source="Orphanet:91385"} synonym: "AAE" EXACT ABBREVIATION [Orphanet:91385] synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired] @@ -376530,6 +393714,7 @@ synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385] synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385] synonym: "angioedema, acquired" RELATED [GARD:0008605] xref: DOID:0080941 {source="MONDO:equivalentTo"} +xref: GARD:8605 {source="Orphanet:91385"} xref: ICD10CM:T78.3 {source="Orphanet:91385", source="Orphanet:91385/e"} xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} xref: Orphanet:91385 {source="MONDO:equivalentTo"} @@ -376544,7 +393729,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8605/acquire id: MONDO:0019625 name: familial thoracic aortic aneurysm and aortic dissection def: "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." [Orphanet:91387] -subset: gard_rare +subset: gard_rare {source="GARD:2249"} subset: ordo_disease {source="Orphanet:229", source="Orphanet:91387"} subset: prototype_pattern synonym: "annuloaortic ectasia" RELATED [Orphanet:229] @@ -376558,6 +393743,7 @@ synonym: "familial thoracic aortic aneurysm" RELATED [GARD:0002249] synonym: "familial thoracic aortic aneurysm and aortic dissection" EXACT CLINGEN_PREFERRED [] synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:0002249] synonym: "FTAAD" EXACT ABBREVIATION [] +xref: GARD:2249 {source="Orphanet:91387"} xref: ICD10CM:I71.0 {source="Orphanet:229/attributed", source="Orphanet:229/ntbt", source="Orphanet:229"} xref: ICD10CM:Q87.4 {source="Orphanet:91387", source="Orphanet:91387/attributed", source="Orphanet:91387/ntbt"} xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -376578,7 +393764,9 @@ property_value: confidence "0.014130103558823048" xsd:double id: MONDO:0019626 name: isolated ankyloblepharon filiforme adnatum def: "Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." [Orphanet:91397] +subset: gard_rare {source="GARD:19168"} subset: ordo_morphological_anomaly {source="Orphanet:91397"} +xref: GARD:19168 {source="Orphanet:91397"} xref: ICD10CM:Q10.3 {source="Orphanet:91397/attributed", source="Orphanet:91397/ntbt", source="Orphanet:91397"} xref: Orphanet:91397 {source="MONDO:equivalentTo"} xref: UMLS:C1302999 {source="MONDO:relatedTo", source="Orphanet:91397"} @@ -376590,8 +393778,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019627 name: isolated congenital alacrima def: "Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." [Orphanet:91416] +subset: gard_rare {source="GARD:16799"} subset: ordo_disease {source="Orphanet:91416"} synonym: "nonsyndromic congenital alacrima" EXACT [MONDO:patterns/isolated] +xref: GARD:16799 {source="Orphanet:91416"} xref: ICD10CM:Q10.6 {source="Orphanet:91416/attributed", source="Orphanet:91416/ntbt", source="Orphanet:91416"} xref: Orphanet:91416 {source="MONDO:equivalentTo"} xref: SCTID:717262004 {source="MONDO:equivalentTo"} @@ -376606,7 +393796,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019628 name: Rieger anomaly def: "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." [Orphanet:91483] +subset: gard_rare {source="GARD:16482"} subset: ordo_morphological_anomaly {source="Orphanet:91483"} +xref: GARD:16482 {source="Orphanet:91483"} xref: ICD10CM:Q13.8 {source="Orphanet:91483/inclusion", source="Orphanet:91483", source="Orphanet:91483/ntbt"} xref: MedDRA:10059198 {source="Orphanet:91483", source="Orphanet:91483/e"} xref: Orphanet:91483 {source="MONDO:equivalentTo"} @@ -376617,11 +393809,13 @@ property_value: confidence "0.9131875999999999" xsd:double id: MONDO:0019629 name: sclerocornea def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [DOID:0060252, http://en.wikipedia.org/wiki/Sclerocornea, PMID:3994576] +subset: gard_rare {source="GARD:16800"} subset: ordo_morphological_anomaly {source="Orphanet:91490"} synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252] synonym: "sclerocornea" EXACT [MONDO:ambiguous] synonym: "sclerocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060252 {source="MONDO:equivalentTo"} +xref: GARD:16800 {source="Orphanet:91490"} xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.3 {source="Orphanet:91490/specific", source="Orphanet:91490/e", source="Orphanet:91490"} xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo"} @@ -376635,7 +393829,9 @@ property_value: IAO:0000589 "sclerocornea (disease)" xsd:string id: MONDO:0019630 name: congenital ectropion uveae def: "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." [Orphanet:91491] +subset: gard_rare {source="GARD:19169"} subset: ordo_malformation_syndrome {source="Orphanet:91491"} +xref: GARD:19169 {source="Orphanet:91491"} xref: ICD10CM:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="Orphanet:91491/attributed", source="Orphanet:91491/ntbt"} xref: Orphanet:91491 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:91491"} ! iridogoniodysgenesis @@ -376646,6 +393842,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019631 name: persistent hyperplastic primary vitreous def: "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" [MESH:D054514] +subset: gard_rare {source="GARD:16803"} subset: ordo_disease {source="Orphanet:91495"} synonym: "congenital retinal detachment" EXACT [Orphanet:91495] synonym: "ncRNA disease" EXACT [Orphanet:91495] @@ -376655,6 +393852,7 @@ synonym: "persistent foetal vasculature syndrome" EXACT OMO:0003005 [] synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495] synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} +xref: GARD:16803 {source="Orphanet:91495"} xref: ICD10CM:Q14.0 {source="Orphanet:91495/attributed", source="Orphanet:91495/ntbt", source="Orphanet:91495"} xref: MESH:D054514 {source="Orphanet:91495", source="MONDO:equivalentTo", source="Orphanet:91495/e", source="DOID:0060282"} xref: NCIT:C161554 {source="MONDO:equivalentTo"} @@ -376673,6 +393871,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:221900"} ! inheri id: MONDO:0019632 name: Lyme disease def: "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." [Orphanet:91546] +subset: gard_rare {source="GARD:19170"} subset: ordo_disease {source="Orphanet:91546"} synonym: "Bannwarth syndrome" EXACT [DOID:11729] synonym: "Bannworth's syndrome" EXACT [DOID:11729] @@ -376688,6 +393887,7 @@ synonym: "neuroborreliosis" EXACT [DOID:11729] synonym: "neurological Lyme disease" EXACT [DOID:11729] xref: DOID:11729 {source="MONDO:equivalentTo"} xref: EFO:0008510 {source="MONDO:equivalentTo"} +xref: GARD:19170 {source="Orphanet:91546"} xref: ICD10CM:A69.2 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: ICD10CM:A69.20 {source="DOID:11729"} xref: ICD9:088.81 {source="DOID:11729"} @@ -376718,8 +393918,10 @@ relationship: transmitted_by NCBITaxon:6945 ! Ixodes scapularis id: MONDO:0019633 name: relapsing fever def: "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." [Orphanet:91547] +subset: gard_rare {source="GARD:19171"} subset: ordo_disease {source="Orphanet:91547"} xref: DOID:13034 {source="MONDO:equivalentTo"} +xref: GARD:19171 {source="Orphanet:91547"} xref: ICD10CM:A68 {source="MONDO:equivalentTo", source="DOID:13034"} xref: ICD10CM:A68.0 {source="Orphanet:91547/btnt", source="Orphanet:91547"} xref: ICD10CM:A68.1 {source="Orphanet:91547/btnt", source="Orphanet:91547"} @@ -376745,8 +393947,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare id: MONDO:0019634 name: familial nasal acilia def: "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." [Orphanet:922] -subset: gard_rare {source="GARD:0002254"} +subset: gard_rare {source="GARD:2254"} subset: ordo_disease {source="Orphanet:922"} +xref: GARD:2254 {source="Orphanet:922"} xref: ICD10CM:Q30.8 {source="Orphanet:922/attributed", source="Orphanet:922/ntbt", source="Orphanet:922"} xref: Orphanet:922 {source="MONDO:equivalentTo"} xref: SCTID:763532008 {source="MONDO:equivalentTo"} @@ -376760,11 +393963,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2254/familia id: MONDO:0019635 name: idiopathic achalasia def: "A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition." [Orphanet:930] +subset: gard_rare {source="GARD:5708"} subset: ordo_disease {source="Orphanet:930"} synonym: "achalasia cardia" EXACT [Orphanet:930] synonym: "idiopathic achalasia of esophagus" EXACT [Orphanet:930] synonym: "idiopathic achalasia of oesophagus" EXACT OMO:0003005 [] synonym: "primary achalasia" EXACT [Orphanet:930] +xref: GARD:5708 {source="Orphanet:930"} xref: ICD10CM:K22.0 {source="Orphanet:930", source="Orphanet:930/e"} xref: MedDRA:10036669 {source="Orphanet:930", source="Orphanet:930/e"} xref: MESH:C536011 {source="Orphanet:930", source="Orphanet:930/e"} @@ -376782,10 +393987,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019636 name: renal agenesis, unilateral def: "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." [Orphanet:93100] +subset: gard_rare {source="GARD:16804"} subset: ordo_clinical_subtype {source="Orphanet:93100"} synonym: "congenital single kidney" EXACT [NCIT:C101220] synonym: "congenital solitary kidney" EXACT [NCIT:C101220] synonym: "unilateral renal agenesis" EXACT [NCIT:C101220] +xref: GARD:16804 {source="Orphanet:93100"} xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"} xref: MedDRA:10053624 {source="Orphanet:93100", source="Orphanet:93100/e"} xref: NCIT:C101220 {source="MONDO:equivalentTo"} @@ -376797,10 +394004,12 @@ is_a: MONDO:0018470 {source="NCIT:C101220", source="Orphanet:93100"} ! renal age id: MONDO:0019637 name: renal hypoplasia def: "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." [Orphanet:93101] +subset: gard_rare {source="GARD:19172"} subset: ordo_morphological_anomaly {source="Orphanet:93101"} synonym: "renal hypoplasia" EXACT [MONDO:ambiguous] synonym: "renal hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080204 {source="MONDO:equivalentTo"} +xref: GARD:19172 {source="Orphanet:93101"} xref: HP:0000089 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q60.3 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"} xref: ICD10CM:Q60.4 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"} @@ -376819,9 +394028,11 @@ property_value: IAO:0000589 "renal hypoplasia (disease)" xsd:string id: MONDO:0019638 name: renal dysplasia def: "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." [Orphanet:93108] +subset: gard_rare {source="GARD:19173"} subset: ordo_morphological_anomaly {source="Orphanet:93108"} synonym: "renal dysplasia" EXACT [MONDO:ambiguous] synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19173 {source="Orphanet:93108"} xref: HP:0000110 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.4 {source="Orphanet:93108/e", source="Orphanet:93108/specific", source="Orphanet:93108"} xref: Orphanet:93108 {source="MONDO:equivalentTo"} @@ -376835,7 +394046,9 @@ property_value: IAO:0000589 "renal dysplasia (disease)" xsd:string id: MONDO:0019639 name: congenital megacalycosis def: "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." [Orphanet:93109] +subset: gard_rare {source="GARD:19174"} subset: ordo_morphological_anomaly {source="Orphanet:93109"} +xref: GARD:19174 {source="Orphanet:93109"} xref: ICD10CM:Q63.8 {source="Orphanet:93109/ntbt", source="Orphanet:93109"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93109 {source="MONDO:equivalentTo"} @@ -376848,10 +394061,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019640 name: posterior urethral valve def: "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." [Orphanet:93110] +subset: gard_rare {source="GARD:7439"} subset: ordo_morphological_anomaly {source="Orphanet:93110"} synonym: "congenital posterior urethral valves" EXACT [NCIT:C99021] synonym: "Posterior urethral valves" RELATED [GARD:0007439] synonym: "PUV" EXACT ABBREVIATION [Orphanet:93110] +xref: GARD:7439 {source="Orphanet:93110"} xref: ICD10CM:Q64.2 {source="Orphanet:93110/attributed", source="Orphanet:93110/ntbt", source="Orphanet:93110"} xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036369 {source="Orphanet:93110", source="Orphanet:93110/e"} @@ -376867,7 +394082,9 @@ is_a: MONDO:0018559 {source="Orphanet:93110"} ! fetal lower urinary tract obstru id: MONDO:0019641 name: Pauci-immune glomerulonephritis def: "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." [Orphanet:93126] +subset: gard_rare {source="GARD:19175"} subset: ordo_disease {source="Orphanet:93126"} +xref: GARD:19175 {source="Orphanet:93126"} xref: ICD10CM:N05.7 {source="Orphanet:93126", source="Orphanet:93126/ntbt"} xref: Orphanet:93126 {source="MONDO:equivalentTo"} is_a: MONDO:0002462 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerulonephritis @@ -376878,6 +394095,7 @@ id: MONDO:0019642 name: vitamin D-dependent rickets, type 2 def: "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." [Orphanet:93160] comment: Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A +subset: gard_rare {source="GARD:16805"} subset: ordo_disease {source="Orphanet:93160"} synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor" EXACT [NCIT:C131077] synonym: "hereditary vitamin D-resistant rickets" EXACT [Orphanet:93160] @@ -376891,6 +394109,7 @@ synonym: "vitamin D receptor deficiency" EXACT [NCIT:C131077] synonym: "vitamin D-dependent rickets type II" EXACT [Orphanet:93160] synonym: "vitamin D-dependent rickets, type 2" EXACT [MONDO:cjm] synonym: "vitamin D-resistant rickets type II" EXACT [Orphanet:93160] +xref: GARD:16805 {source="Orphanet:93160"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:93160/attributed", source="Orphanet:93160/ntbt", source="Orphanet:93160"} xref: NCIT:C131077 {source="MONDO:equivalentTo"} xref: Orphanet:93160 {source="MONDO:equivalentTo"} @@ -376904,8 +394123,10 @@ is_a: MONDO:0024299 {source="MONDO:cjm"} ! vitamin D-dependent rickets id: MONDO:0019643 name: transient pseudohypoaldosteronism def: "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." [Orphanet:93164] +subset: gard_rare {source="GARD:19176"} subset: ordo_malformation_syndrome {source="Orphanet:93164"} synonym: "TPHA" EXACT ABBREVIATION [Orphanet:93164] +xref: GARD:19176 {source="Orphanet:93164"} xref: ICD10CM:N15.8 {source="Orphanet:93164", source="Orphanet:93164/ntbt"} xref: Orphanet:93164 {source="MONDO:equivalentTo"} xref: SCTID:717263009 {source="MONDO:equivalentTo"} @@ -376919,8 +394140,10 @@ intersection_of: has_characteristic HP:0025153 ! Transient id: MONDO:0019644 name: renal dysplasia, unilateral def: "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93172] +subset: gard_rare {source="GARD:19177"} subset: ordo_clinical_subtype {source="Orphanet:93172"} synonym: "unilateral renal dysplasia" EXACT [HP:0008718] +xref: GARD:19177 {source="Orphanet:93172"} xref: HP:0008718 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.4 {source="Orphanet:93172/attributed", source="Orphanet:93172/ntbt", source="Orphanet:93172"} xref: Orphanet:93172 {source="MONDO:equivalentTo"} @@ -376931,8 +394154,10 @@ is_a: MONDO:0019638 {source="Orphanet:93172"} ! renal dysplasia id: MONDO:0019645 name: renal dysplasia, bilateral def: "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93173] +subset: gard_rare {source="GARD:19178"} subset: ordo_clinical_subtype {source="Orphanet:93173"} synonym: "bilateral renal dysplasia" EXACT [HP:0012582] +xref: GARD:19178 {source="Orphanet:93173"} xref: HP:0012582 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.4 {source="Orphanet:93173/attributed", source="Orphanet:93173/ntbt", source="Orphanet:93173"} xref: Orphanet:93173 {source="MONDO:equivalentTo"} @@ -376943,7 +394168,9 @@ is_a: MONDO:0019638 {source="Orphanet:93173"} ! renal dysplasia [Term] id: MONDO:0019646 name: unilateral congenital megacalycosis +subset: gard_rare {source="GARD:19179"} subset: ordo_clinical_subtype {source="Orphanet:93176"} +xref: GARD:19179 {source="Orphanet:93176"} xref: ICD10CM:Q63.8 {source="Orphanet:93176/ntbt", source="Orphanet:93176"} xref: Orphanet:93176 {source="MONDO:equivalentTo"} is_a: MONDO:0019639 {source="Orphanet:93176"} ! congenital megacalycosis @@ -376953,7 +394180,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019647 name: congenital bilateral megacalycosis +subset: gard_rare {source="GARD:19180"} subset: ordo_clinical_subtype {source="Orphanet:93177"} +xref: GARD:19180 {source="Orphanet:93177"} xref: ICD10CM:Q63.8 {source="Orphanet:93177", source="Orphanet:93177/ntbt"} xref: Orphanet:93177 {source="MONDO:equivalentTo"} is_a: MONDO:0019639 {source="Orphanet:93177"} ! congenital megacalycosis @@ -376964,9 +394193,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019648 name: achondrogenesis def: "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." [Orphanet:932] -subset: gard_rare {source="GARD:0002882"} +subset: gard_rare {source="GARD:2882"} subset: ordo_disease {source="Orphanet:932"} xref: DOID:0080043 {source="MONDO:equivalentTo"} +xref: GARD:2882 {source="Orphanet:932"} xref: ICD10CM:Q77.0 {source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/specific", source="Orphanet:932/e"} xref: MedDRA:10066122 {source="Orphanet:932", source="Orphanet:932/e"} xref: MESH:C579878 {source="MONDO:equivalentTo"} @@ -377081,9 +394311,11 @@ consider: MONDO:0019006 id: MONDO:0019659 name: Pfeiffer syndrome type 1 def: "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." [Orphanet:93258] +subset: gard_rare {source="GARD:16807"} subset: ordo_clinical_subtype {source="Orphanet:93258"} synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258] synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_PREFERRED [] +xref: GARD:16807 {source="Orphanet:93258"} xref: ICD10CM:Q87.0 {source="Orphanet:93258", source="Orphanet:93258/attributed", source="Orphanet:93258/ntbt"} xref: Orphanet:93258 {source="MONDO:equivalentTo"} xref: UMLS:CN206533 {source="MONDO:equivalentTo"} @@ -377093,7 +394325,9 @@ is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome id: MONDO:0019660 name: Pfeiffer syndrome type 2 def: "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." [Orphanet:93259] +subset: gard_rare {source="GARD:16808"} subset: ordo_clinical_subtype {source="Orphanet:93259"} +xref: GARD:16808 {source="Orphanet:93259"} xref: ICD10CM:Q87.0 {source="Orphanet:93259", source="Orphanet:93259/attributed", source="Orphanet:93259/ntbt"} xref: Orphanet:93259 {source="MONDO:equivalentTo"} xref: UMLS:CN206534 {source="MONDO:equivalentTo"} @@ -377103,7 +394337,9 @@ is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome id: MONDO:0019661 name: Pfeiffer syndrome type 3 def: "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." [Orphanet:93260] +subset: gard_rare {source="GARD:16809"} subset: ordo_clinical_subtype {source="Orphanet:93260"} +xref: GARD:16809 {source="Orphanet:93260"} xref: ICD10CM:Q87.0 {source="Orphanet:93260/attributed", source="Orphanet:93260/ntbt", source="Orphanet:93260"} xref: Orphanet:93260 {source="MONDO:equivalentTo"} xref: UMLS:CN206535 {source="MONDO:equivalentTo"} @@ -377112,11 +394348,13 @@ is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome [Term] id: MONDO:0019662 name: short rib-polydactyly syndrome, Majewski type +subset: gard_rare {source="GARD:4833"} subset: ordo_malformation_syndrome {source="Orphanet:93269"} synonym: "polydactyly with neonatal chondrodystrophy type 2" RELATED [GARD:0004833] synonym: "short rib-polydactyly syndrome Majewski type" RELATED [GARD:0004833] synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269] synonym: "SRPS type 2" RELATED [GARD:0004833] +xref: GARD:4833 {source="Orphanet:93269"} xref: ICD10CM:Q77.2 {source="Orphanet:93269", source="Orphanet:93269/attributed", source="Orphanet:93269/ntbt"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93269 {source="MONDO:equivalentTo"} @@ -377144,11 +394382,13 @@ replaced_by: MONDO:0013127 id: MONDO:0019665 name: monostotic fibrous dysplasia def: "Fibrous dysplasia of bone involving only one bone." [MESH:D005358] +subset: gard_rare {source="GARD:19181"} subset: ordo_clinical_subtype {source="Orphanet:93277"} synonym: "Jaffe-Lichtenstein disease" EXACT [Orphanet:93277] synonym: "monostotic fibrous dysplasia" EXACT [MONDO:ambiguous] synonym: "monostotic fibrous dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971] +xref: GARD:19181 {source="Orphanet:93277"} xref: HP:0010736 {source="MONDO:otherHierarchy"} xref: ICD10CM:M85.0 {source="Orphanet:93277"} xref: ICD10CM:Q78.1 {source="Orphanet:93277/attributed", source="Orphanet:93277/ntbt", source="MONDO:directSiblingOf"} @@ -377165,6 +394405,7 @@ property_value: IAO:0000589 "monostotic fibrous dysplasia (disease)" xsd:string id: MONDO:0019666 name: spondyloepimetaphyseal dysplasia, PAPSS2 type def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [https://orcid.org/0000-0001-5208-3432, Orphanet:93282] +subset: gard_rare {source="GARD:16813"} subset: ordo_disease {source="Orphanet:93282"} synonym: "BCYM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612847] synonym: "brachyolmia 4 with mild epiphyseal and metaphyseal changes" EXACT [OMIM:612847, OMIM:genemap2] @@ -377174,6 +394415,7 @@ synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282] xref: DOID:0050812 {source="MONDO:equivalentTo"} +xref: GARD:16813 {source="Orphanet:93282"} xref: ICD10CM:Q77.7 {source="Orphanet:93282/attributed", source="Orphanet:93282/ntbt", source="Orphanet:93282"} xref: OMIM:612847 {source="MONDO:equivalentTo", source="Orphanet:93282/ntbt", source="DOID:0050812", source="Orphanet:93282"} xref: Orphanet:93282 {source="MONDO:equivalentTo", source="OMIM:612847"} @@ -377195,8 +394437,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019667 name: spondyloepiphyseal dysplasia tarda def: "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." [Orphanet:93284] +subset: gard_rare {source="GARD:10624"} subset: ordo_disease {source="Orphanet:93284"} xref: DOID:0112284 {source="MONDO:equivalentTo"} +xref: GARD:10624 {source="Orphanet:93284"} xref: ICD10CM:Q77.7 {source="Orphanet:93284", source="Orphanet:93284/attributed", source="Orphanet:93284/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93284 {source="MONDO:equivalentTo"} @@ -377206,9 +394450,11 @@ is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0019668 name: adenoma of pancreas +subset: gard_rare {source="GARD:4204"} subset: ordo_disease {source="Orphanet:93292"} synonym: "adenoma of the pancreas" RELATED [Orphanet:93292] synonym: "pancreatic adenoma" EXACT [Orphanet:93292] +xref: GARD:4204 {source="Orphanet:93292"} xref: ICD10CM:D13.6 {source="MONDO:relatedTo", source="Orphanet:93292/ntbt", source="Orphanet:93292"} xref: MedDRA:10058902 {source="Orphanet:93292/e", source="Orphanet:93292"} xref: MESH:C538110 {source="Orphanet:93292/e", source="MONDO:equivalentTo", source="Orphanet:93292"} @@ -377224,8 +394470,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019669 name: hypochondrogenesis +subset: gard_rare {source="GARD:16815"} subset: ordo_clinical_subtype {source="Orphanet:93297"} xref: DOID:0080044 {source="MONDO:equivalentTo"} +xref: GARD:16815 {source="Orphanet:93297"} xref: ICD10CM:Q77.0 {source="Orphanet:93297/ntbt", source="Orphanet:93297", source="Orphanet:93297/inclusion"} xref: MESH:C563007 {source="MONDO:equivalentTo"} xref: Orphanet:93297 {source="MONDO:equivalentTo"} @@ -377239,10 +394487,12 @@ property_value: confidence "1.666666666666666" xsd:double id: MONDO:0019670 name: ulnar hemimelia def: "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." [Orphanet:93320] +subset: gard_rare {source="GARD:19182"} subset: ordo_morphological_anomaly {source="Orphanet:93320"} synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320] synonym: "ulnar clubhand" EXACT [Orphanet:93320] synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320] +xref: GARD:19182 {source="Orphanet:93320"} xref: ICD10CM:Q71.5 {source="Orphanet:93320", source="Orphanet:93320/e", source="Orphanet:93320/specific"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93320 {source="MONDO:equivalentTo"} @@ -377253,11 +394503,13 @@ is_a: MONDO:0016240 {source="Orphanet:93320"} ! hemimelia id: MONDO:0019671 name: radial hemimelia def: "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." [Orphanet:93321] +subset: gard_rare {source="GARD:225"} subset: ordo_morphological_anomaly {source="Orphanet:93321"} synonym: "congenital longitudinal deficiency of the radius" EXACT [Orphanet:93321] synonym: "radial clubhand" EXACT [Orphanet:93321] synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321] synonym: "radial ray agenesis" EXACT [Orphanet:93321] +xref: GARD:225 {source="Orphanet:93321"} xref: ICD10CM:Q71.4 {source="Orphanet:93321", source="Orphanet:93321/specific", source="Orphanet:93321/e"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93321 {source="MONDO:equivalentTo"} @@ -377268,9 +394520,11 @@ is_a: MONDO:0016240 {source="Orphanet:93321"} ! hemimelia id: MONDO:0019672 name: fibular hemimelia def: "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." [Orphanet:93323] +subset: gard_rare {source="GARD:8659"} subset: ordo_morphological_anomaly {source="Orphanet:93323"} synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323] synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323] +xref: GARD:8659 {source="Orphanet:93323"} xref: ICD10CM:Q72.6 {source="Orphanet:93323", source="Orphanet:93323/specific", source="Orphanet:93323/e"} xref: Orphanet:93323 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia @@ -377278,10 +394532,12 @@ is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia [Term] id: MONDO:0019673 name: postaxial polydactyly type A +subset: gard_rare {source="GARD:16817"} subset: ordo_morphological_anomaly {source="Orphanet:93334"} synonym: "PAPA" EXACT ABBREVIATION [MONDO:cjm] synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous] synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:16817 {source="Orphanet:93334"} xref: HP:0005696 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q69.0 {source="Orphanet:93334", source="Orphanet:93334/attributed", source="Orphanet:93334/ntbt"} xref: Orphanet:93334 {source="MONDO:equivalentTo"} @@ -377294,8 +394550,10 @@ property_value: IAO:0000589 "postaxial polydactyly type A (disease)" xsd:string [Term] id: MONDO:0019674 name: postaxial polydactyly type B +subset: gard_rare {source="GARD:16818"} subset: ordo_morphological_anomaly {source="Orphanet:93335"} synonym: "PAPB" EXACT ABBREVIATION [MONDO:cjm, OMIM:174200] +xref: GARD:16818 {source="Orphanet:93335"} xref: ICD10CM:Q69.0 {source="Orphanet:93335", source="Orphanet:93335/attributed", source="Orphanet:93335/ntbt"} xref: OMIM:174200 {source="Orphanet:93335", source="MONDO:includedEntryInOMIM", source="Orphanet:93335/ntbt"} xref: Orphanet:93335 {source="MONDO:equivalentTo"} @@ -377309,7 +394567,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019675 name: spondyloepimetaphyseal dysplasia with joint laxity def: "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." [PMID:12784311] -subset: gard_rare +subset: gard_rare {source="GARD:4982"} subset: ordo_disease {source="Orphanet:93359"} synonym: "SEMD-JL" EXACT [Orphanet:93359] synonym: "SEMDJL" EXACT ABBREVIATION [GARD:0004982] @@ -377319,6 +394577,7 @@ synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:000498 synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [Orphanet:93359] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [Orphanet:93359] xref: DOID:0112197 {source="MONDO:equivalentTo"} +xref: GARD:4982 {source="Orphanet:93359"} xref: ICD10CM:Q77.7 {source="Orphanet:93359", source="Orphanet:93359/attributed", source="Orphanet:93359/ntbt"} xref: ICD9:719.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -377339,7 +394598,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019676 name: brachydactyly type B def: "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." [GARD:0000985] +subset: gard_rare {source="GARD:985"} subset: ordo_malformation_syndrome {source="Orphanet:93383"} +xref: GARD:985 {source="Orphanet:93383"} xref: ICD10CM:Q73.8 {source="Orphanet:93383", source="Orphanet:93383/attributed", source="Orphanet:93383/ntbt"} xref: Orphanet:93383 {source="MONDO:equivalentTo"} xref: SCTID:389168002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} @@ -377351,8 +394612,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019677 name: brachydactyly type E def: "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." [Orphanet:93387] +subset: gard_rare {source="GARD:987"} subset: ordo_malformation_syndrome {source="Orphanet:93387"} synonym: "type E brachydactyly" RELATED [GARD:0000987] +xref: GARD:987 {source="Orphanet:93387"} xref: ICD10CM:Q73.8 {source="Orphanet:93387/attributed", source="Orphanet:93387/ntbt", source="Orphanet:93387"} xref: Orphanet:93387 {source="MONDO:equivalentTo"} xref: UMLS:C0265312 {source="Orphanet:93387", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93387/e"} @@ -377362,7 +394625,6 @@ is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydac id: MONDO:0019678 name: brachydactyly type A5 def: "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." [Orphanet:93389] -subset: gard_rare {source="GARD:0000982"} subset: ordo_malformation_syndrome {source="Orphanet:93389"} synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GARD:0000982] synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982] @@ -377380,10 +394642,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/982/brachyda id: MONDO:0019679 name: brachydactyly type A7 def: "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." [Orphanet:93397] -subset: gard_rare {source="GARD:0000984"} +subset: gard_rare {source="GARD:984"} subset: ordo_malformation_syndrome {source="Orphanet:93397"} synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984] synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397] +xref: GARD:984 {source="Orphanet:93397"} xref: ICD10CM:Q73.8 {source="Orphanet:93397", source="Orphanet:93397/attributed", source="Orphanet:93397/ntbt"} xref: Orphanet:93397 {source="MONDO:equivalentTo"} xref: SCTID:720571006 {source="MONDO:equivalentTo"} @@ -377395,7 +394658,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/984/brachyda id: MONDO:0019680 name: genochondromatosis type 2 def: "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." [Orphanet:93398] +subset: gard_rare {source="GARD:16820"} subset: ordo_disease {source="Orphanet:93398"} +xref: GARD:16820 {source="Orphanet:93398"} xref: Orphanet:93398 {source="MONDO:equivalentTo"} xref: SCTID:725904009 {source="MONDO:equivalentTo"} xref: UMLS:C4511481 {source="MONDO:equivalentTo"} @@ -377407,8 +394672,10 @@ property_value: confidence "1.7906976744186043" xsd:double [Term] id: MONDO:0019681 name: juvenile sialidosis type 2 +subset: gard_rare {source="GARD:19183"} subset: ordo_clinical_subtype {source="Orphanet:93399"} synonym: "dysmorphic sialidosis, juvenile form" EXACT [] +xref: GARD:19183 {source="Orphanet:93399"} xref: ICD10CM:E77.1 {source="Orphanet:93399/attributed", source="Orphanet:93399/ntbt", source="Orphanet:93399"} xref: Orphanet:93399 {source="MONDO:equivalentTo"} xref: SCTID:111383007 {source="MONDO:equivalentTo"} @@ -377419,7 +394686,9 @@ is_a: MONDO:0009738 {source="Orphanet:93399"} ! sialidosis type 2 [Term] id: MONDO:0019682 name: congenital sialidosis type 2 +subset: gard_rare {source="GARD:19184"} subset: ordo_clinical_subtype {source="Orphanet:93400"} +xref: GARD:19184 {source="Orphanet:93400"} xref: ICD10CM:E77.1 {source="Orphanet:93400", source="Orphanet:93400/attributed", source="Orphanet:93400/ntbt"} xref: Orphanet:93400 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93400"} ! sialidosis type 2 @@ -377437,8 +394706,10 @@ id: MONDO:0019684 name: obsolete rare bone disease def: "OBSOLETE. Rare bone disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22511"} subset: ordo_group_of_disorders {source="Orphanet:93419"} synonym: "rare bone disease" EXACT [MONDO:patterns/rare] +xref: GARD:22511 {source="MONDO:obsoleteEquivalent", source="Orphanet:93419"} xref: Orphanet:93419 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206613 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -377449,7 +394720,9 @@ replaced_by: MONDO:0005381 id: MONDO:0019685 name: FGFR3-related chondrodysplasia subset: disease_grouping +subset: gard_rare {source="GARD:19185"} subset: ordo_group_of_disorders {source="Orphanet:93420"} +xref: GARD:19185 {source="Orphanet:93420"} xref: Orphanet:93420 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:93420"} ! bone disorder is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia @@ -377475,8 +394748,10 @@ replaced_by: MONDO:0800087 [Term] id: MONDO:0019688 name: obsolete sulfation-related bone disorder +subset: gard_rare {source="GARD:19188"} synonym: "inborn error of sulphation" EXACT [MONDO:patterns/inborn_metabolic_disrupts] synonym: "sulphation disorder" EXACT [PMID:31633310] +xref: GARD:19188 {source="MONDO:obsoleteEquivalent", source="Orphanet:93423"} xref: Orphanet:93423 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227674 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377490,6 +394765,8 @@ is_obsolete: true [Term] id: MONDO:0019689 name: obsolete perlecan-related bone disorder +subset: gard_rare {source="GARD:19189"} +xref: GARD:19189 {source="MONDO:obsoleteEquivalent", source="Orphanet:93424"} xref: Orphanet:93424 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227675 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377503,8 +394780,10 @@ is_obsolete: true id: MONDO:0019690 name: filamin-related bone disorder subset: disease_grouping +subset: gard_rare {source="GARD:19190"} subset: ordo_group_of_disorders {source="Orphanet:93425"} synonym: "bone filaminopathy" EXACT [Orphanet:93425] +xref: GARD:19190 {source="Orphanet:93425"} xref: Orphanet:93425 {source="MONDO:equivalentTo"} xref: UMLS:CN227676 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:93425"} ! bone disorder @@ -377515,10 +394794,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019691 name: short rib dysplasia subset: disease_grouping +subset: gard_rare {source="GARD:16822"} subset: ordo_group_of_disorders {source="Orphanet:93426"} synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426] synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426] synonym: "SRP" EXACT ABBREVIATION [Orphanet:93426] +xref: GARD:16822 {source="Orphanet:93426"} xref: ICD10CM:Q77.2 {source="Orphanet:93426/e", source="Orphanet:93426/specific", source="Orphanet:93426"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93426 {source="MONDO:equivalentTo"} @@ -377530,6 +394811,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019692 name: obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +subset: gard_rare {source="GARD:19191"} +xref: GARD:19191 {source="MONDO:obsoleteEquivalent", source="Orphanet:93429"} xref: ICD10CM:Q78.8 {source="Orphanet:93429/attributed", source="Orphanet:93429/ntbt", source="Orphanet:93429"} xref: Orphanet:93429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377542,6 +394825,8 @@ is_obsolete: true [Term] id: MONDO:0019693 name: obsolete multiple metaphyseal dysplasia +subset: gard_rare {source="GARD:19192"} +xref: GARD:19192 {source="Orphanet:93430", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q78.5 {source="Orphanet:93430", source="Orphanet:93430/attributed", source="Orphanet:93430/ntbt"} xref: Orphanet:93430 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377555,7 +394840,9 @@ is_obsolete: true id: MONDO:0019694 name: spondylodysplastic dysplasia subset: disease_grouping +subset: gard_rare {source="GARD:19193"} subset: ordo_group_of_disorders {source="Orphanet:93434"} +xref: GARD:19193 {source="Orphanet:93434"} xref: Orphanet:93434 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93434"} ! skeletal dysplasia @@ -377563,7 +394850,9 @@ is_a: MONDO:0018230 {source="Orphanet:93434"} ! skeletal dysplasia id: MONDO:0019695 name: acromelic dysplasia subset: disease_grouping +subset: gard_rare {source="GARD:19194"} subset: ordo_group_of_disorders {source="Orphanet:93436"} +xref: GARD:19194 {source="Orphanet:93436"} xref: ICD10CM:Q74.8 {source="Orphanet:93436", source="Orphanet:93436/attributed", source="Orphanet:93436/ntbt"} xref: Orphanet:93436 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93436", source="PMID:31633310"} ! skeletal dysplasia @@ -377574,10 +394863,11 @@ id: MONDO:0019696 name: acromesomelic dysplasia def: "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" [GARD:0000006, https://orcid.org/0000-0001-5208-3432] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:6"} subset: ordo_group_of_disorders {source="Orphanet:93437"} synonym: "acromesomelic dwarfism" RELATED [GARD:0000006] xref: DOID:0080049 {source="MONDO:equivalentTo"} +xref: GARD:6 {source="Orphanet:93437"} xref: MESH:C535658 {source="Orphanet:93437/e", source="MONDO:equivalentTo", source="Orphanet:93437"} xref: OMIMPS:602875 {source="MONDO:equivalentTo"} xref: Orphanet:93437 {source="GARD:0000006", source="MONDO:equivalentTo"} @@ -377592,6 +394882,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019697 name: obsolete mesomelic and rhizo-mesomelic dysplasia +subset: gard_rare {source="GARD:19195"} +xref: GARD:19195 {source="MONDO:obsoleteEquivalent", source="Orphanet:93438"} xref: Orphanet:93438 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229208 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377605,8 +394897,10 @@ is_obsolete: true id: MONDO:0019698 name: bent bone dysplasia subset: disease_grouping +subset: gard_rare {source="GARD:19196"} subset: ordo_group_of_disorders {source="Orphanet:93439"} synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439] +xref: GARD:19196 {source="Orphanet:93439"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93439 {source="MONDO:equivalentTo"} xref: SCTID:254095002 {source="MONDO:equivalentTo"} @@ -377617,6 +394911,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019699 name: obsolete slender bone dysplasia +subset: gard_rare {source="GARD:19197"} +xref: GARD:19197 {source="Orphanet:93440", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93440 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -377641,12 +394937,14 @@ id: MONDO:0019701 name: chondrodysplasia punctata def: "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." [NCIT:P378] subset: disease_grouping +subset: gard_rare {source="GARD:8542"} subset: ordo_group_of_disorders {source="Orphanet:93442"} synonym: "CDP" EXACT ABBREVIATION [Orphanet:93442] synonym: "chondrodysplasia calcificans congenita" EXACT [DOID:2581] synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C84632] synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581] xref: DOID:2581 {source="MONDO:equivalentTo"} +xref: GARD:8542 {source="Orphanet:93442"} xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002806 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581"} @@ -377666,7 +394964,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019702 name: neonatal osteosclerotic dysplasia subset: disease_grouping +subset: gard_rare {source="GARD:19199"} subset: ordo_group_of_disorders {source="Orphanet:93443"} +xref: GARD:19199 {source="Orphanet:93443"} xref: Orphanet:93443 {source="MONDO:equivalentTo"} xref: SCTID:389236000 {source="MONDO:equivalentTo"} xref: UMLS:C1300205 {source="Orphanet:93443", source="MONDO:equivalentTo", source="Orphanet:93443/e"} @@ -377692,9 +394992,11 @@ replaced_by: MONDO:0800084 id: MONDO:0019704 name: obsolete primary bone dysplasia with decreased bone density comment: Reason: out of scope. Term to consider: MONDO:0018230. +subset: gard_rare {source="GARD:19201"} subset: ordo_group_of_disorders {source="Orphanet:93446"} synonym: "primary osteodysplasia with decreased bone density" EXACT [Orphanet:93446] synonym: "primary skeletal dysplasia with decreased bone density" EXACT [Orphanet:93446] +xref: GARD:19201 {source="MONDO:obsoleteEquivalent", source="Orphanet:93446"} xref: Orphanet:93446 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -377705,9 +395007,11 @@ consider: MONDO:0018230 id: MONDO:0019705 name: obsolete primary bone dysplasia with defective bone mineralization comment: Reason: out of scope. Term to consider: MONDO:0018230. +subset: gard_rare {source="GARD:19202"} subset: ordo_group_of_disorders {source="Orphanet:93447"} synonym: "primary osteodysplasia with defective bone mineralization" EXACT [Orphanet:93447] synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [Orphanet:93447] +xref: GARD:19202 {source="MONDO:obsoleteEquivalent", source="Orphanet:93447"} xref: Orphanet:93447 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -377728,7 +395032,9 @@ replaced_by: MONDO:0800088 id: MONDO:0019707 name: primary osteolysis subset: disease_grouping +subset: gard_rare {source="GARD:19204"} subset: ordo_group_of_disorders {source="Orphanet:93449"} +xref: GARD:19204 {source="Orphanet:93449"} xref: Orphanet:93449 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93449", source="PMID:31633310"} ! skeletal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -377749,7 +395055,9 @@ replaced_by: MONDO:0800089 id: MONDO:0019709 name: obsolete cleidocranial dysplasia and isolated cranial ossification defect subset: disease_grouping +subset: gard_rare {source="GARD:19206"} subset: ordo_group_of_disorders {source="Orphanet:93451"} +xref: GARD:19206 {source="Orphanet:93451", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93451 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -377765,13 +395073,17 @@ replaced_by: MONDO:0800085 id: MONDO:0019711 name: obsolete dysostosis with predominant vertebral and costal involvement subset: disease_grouping +subset: gard_rare {source="GARD:19208"} subset: ordo_group_of_disorders {source="Orphanet:93454"} +xref: GARD:19208 {source="MONDO:obsoleteEquivalent", source="Orphanet:93454"} xref: Orphanet:93454 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0019712 name: obsolete patellar dysostosis +subset: gard_rare {source="GARD:19209"} +xref: GARD:19209 {source="MONDO:obsoleteEquivalent", source="Orphanet:93455"} xref: Orphanet:93455 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -377786,10 +395098,12 @@ id: MONDO:0019713 name: non-syndromic limb reduction defect comment: This term was considered for obsoletion in the mass obsoletion effort but it should not be obsoleted. subset: disease_grouping +subset: gard_rare {source="GARD:19210"} subset: ordo_group_of_disorders {source="Orphanet:93457"} synonym: "isolated limb reduction defect" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic limb hypoplasia" EXACT [Orphanet:93457] synonym: "nonsyndromic limb reduction defect" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19210 {source="Orphanet:93457"} xref: ICD10CM:Q71.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} xref: ICD10CM:Q71.1 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} xref: ICD10CM:Q71.2 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} @@ -377822,8 +395136,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019714 name: obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy +subset: gard_rare {source="GARD:19211"} synonym: "isolated polydactyly, syndactyly and/or hyperphalangy" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19211 {source="MONDO:obsoleteEquivalent", source="Orphanet:93458"} xref: Orphanet:93458 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -377847,7 +395163,9 @@ id: MONDO:0019716 name: overgrowth syndrome def: "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." [NCIT:C94828] subset: disease_grouping +subset: gard_rare {source="GARD:19213"} subset: ordo_group_of_disorders {source="Orphanet:93460"} +xref: GARD:19213 {source="Orphanet:93460"} xref: ICD10CM:Q87.3 {source="Orphanet:93460", source="Orphanet:93460/e", source="Orphanet:93460/specific"} xref: NCIT:C94828 {source="MONDO:equivalentTo"} xref: Orphanet:93460 {source="MONDO:equivalentTo"} @@ -377861,7 +395179,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0019717 name: obsolete chromosomal disease with overgrowth comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' +subset: gard_rare {source="GARD:19214"} subset: ordo_group_of_disorders {source="Orphanet:93461"} +xref: GARD:19214 {source="Orphanet:93461", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93461 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -377872,6 +395192,8 @@ consider: MONDO:0019040 [Term] id: MONDO:0019718 name: obsolete lethal chondrodysplasia +subset: gard_rare {source="GARD:19215"} +xref: GARD:19215 {source="MONDO:obsoleteEquivalent", source="Orphanet:93465"} xref: Orphanet:93465 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -377885,6 +395207,7 @@ name: congenital anomaly of kidney and urinary tract def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." [DOID:0080205, PMID:25313840] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:19216"} subset: ordo_group_of_disorders {source="Orphanet:93545"} synonym: "CAKUT" EXACT ABBREVIATION [Orphanet:93545] synonym: "congenital anomalies of kidney and urinary tract" EXACT [Orphanet:93545] @@ -377892,6 +395215,7 @@ synonym: "congenital anomalies of the kidney and urinary tract" EXACT [DOID:0080 synonym: "congenital anomaly of kidney and urinary tract" EXACT CLINGEN_PREFERRED [] synonym: "renal or urinary tract malformation" EXACT [DOID:0080205] xref: DOID:0080205 {source="MONDO:equivalentTo"} +xref: GARD:19216 {source="Orphanet:93545"} xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:C566906 {source="MONDO:equivalentTo"} xref: OMIMPS:610805 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080205"} @@ -377907,10 +395231,12 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610805"} ! inheri id: MONDO:0019720 name: obsolete non-syndromic renal or urinary tract malformation def: "OBSOLETE. A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:19217"} synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT [] synonym: "isolated renal or urinary tract malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic renal or urinary tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] +xref: GARD:19217 {source="MONDO:obsoleteEquivalent", source="Orphanet:93546"} xref: Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:93546 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546"} ! congenital anomaly of kidney and urinary tract @@ -377924,10 +395250,12 @@ is_obsolete: true id: MONDO:0019721 name: obsolete syndromic renal or urinary tract malformation def: "OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19218"} subset: ordo_group_of_disorders {source="Orphanet:93547"} synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic renal or urinary tract malformation" EXACT [MONDO:patterns/syndromic] +xref: GARD:19218 {source="MONDO:obsoleteEquivalent", source="Orphanet:93547"} xref: Orphanet:93547 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227683 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93547"} ! congenital anomaly of kidney and urinary tract @@ -377941,6 +395269,7 @@ id: MONDO:0019722 name: glomerular disorder def: "A disease involving the renal glomerulus." [MONDO:patterns/location_top] subset: disease_grouping +subset: gard_rare {source="GARD:12736"} subset: ordo_group_of_disorders {source="Orphanet:93548"} synonym: "disease of renal glomerulus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of renal glomerulus" EXACT [] @@ -377949,6 +395278,7 @@ synonym: "glomerulopathies" RELATED [GTR:AN0966176] synonym: "glomerulopathy" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] +xref: GARD:12736 {source="Orphanet:93548"} xref: GTR:AN0966176 xref: ICD10CM:N00-N08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C120887 {source="MONDO:equivalentTo"} @@ -377986,9 +395316,11 @@ is_obsolete: true [Term] id: MONDO:0019725 name: pediatric systemic lupus erythematosus +subset: gard_rare {source="GARD:19219"} subset: ordo_disease {source="Orphanet:93552"} synonym: "SLE, paediatric onset" EXACT OMO:0003005 [] synonym: "SLE, pediatric onset" EXACT [Orphanet:93552] +xref: GARD:19219 {source="Orphanet:93552"} xref: ICD10CM:M32.0 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} xref: ICD10CM:M32.1 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} xref: ICD10CM:M32.8 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} @@ -378006,8 +395338,10 @@ relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:93552"} ! thro id: MONDO:0019726 name: type II mixed cryoglobulinemia def: "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." [Orphanet:93554] +subset: gard_rare {source="GARD:19220"} subset: ordo_etiological_subtype {source="Orphanet:93554"} synonym: "MC type II" EXACT [Orphanet:93554] +xref: GARD:19220 {source="Orphanet:93554"} xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93554", source="Orphanet:93554/ntbt"} xref: Orphanet:93554 {source="MONDO:equivalentTo"} xref: UMLS:CN206633 {source="MONDO:equivalentTo"} @@ -378017,8 +395351,10 @@ is_a: MONDO:0007407 {source="Orphanet:93554"} ! Cryoglobulinemic vasculitis id: MONDO:0019727 name: mixed cryoglobulinemia type III def: "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." [Orphanet:93555] +subset: gard_rare {source="GARD:19221"} subset: ordo_etiological_subtype {source="Orphanet:93555"} synonym: "MC type III" EXACT [Orphanet:93555] +xref: GARD:19221 {source="Orphanet:93555"} xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93555", source="Orphanet:93555/ntbt"} xref: Orphanet:93555 {source="MONDO:equivalentTo"} xref: UMLS:CN206634 {source="MONDO:equivalentTo"} @@ -378027,8 +395363,10 @@ is_a: MONDO:0007407 {source="Orphanet:93555"} ! Cryoglobulinemic vasculitis [Term] id: MONDO:0019728 name: heavy chain deposition disease +subset: gard_rare {source="GARD:19222"} subset: ordo_clinical_subtype {source="Orphanet:93556"} synonym: "HCDD" EXACT ABBREVIATION [Orphanet:93556] +xref: GARD:19222 {source="Orphanet:93556"} xref: ICD10CM:D89.8 {source="Orphanet:93556", source="Orphanet:93556/ntbt"} xref: NCIT:C7339 {source="MONDO:equivalentTo"} xref: Orphanet:93556 {source="MONDO:equivalentTo"} @@ -378039,8 +395377,10 @@ is_a: MONDO:0019463 {source="Orphanet:93556"} ! non-amyloid monoclonal immunoglo [Term] id: MONDO:0019729 name: light and heavy chain deposition disease +subset: gard_rare {source="GARD:19223"} subset: ordo_clinical_subtype {source="Orphanet:93557"} synonym: "LHCDD" EXACT ABBREVIATION [Orphanet:93557] +xref: GARD:19223 {source="Orphanet:93557"} xref: ICD10CM:D89.8 {source="Orphanet:93557", source="Orphanet:93557/ntbt"} xref: NCIT:C158965 {source="MONDO:equivalentTo"} xref: Orphanet:93557 {source="MONDO:equivalentTo"} @@ -378051,13 +395391,14 @@ is_a: MONDO:0019463 {source="Orphanet:93557"} ! non-amyloid monoclonal immunoglo id: MONDO:0019730 name: light chain deposition disease def: "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." [https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease] -subset: gard_rare {source="GARD:0006906"} +subset: gard_rare {source="GARD:6906"} subset: ordo_clinical_subtype {source="Orphanet:93558"} synonym: "Bence Jones myeloma" EXACT [NCIT:C7727] synonym: "LCDD" EXACT ABBREVIATION [Orphanet:93558] synonym: "Light chain disease" EXACT [NCIT:C7727] synonym: "Light chain gammopathy" EXACT [NCIT:C7727] synonym: "Light-chain deposition disease" RELATED [GARD:0006906] +xref: GARD:6906 {source="Orphanet:93558"} xref: ICD10CM:D89.8 {source="Orphanet:93558/ntbt", source="Orphanet:93558"} xref: NCIT:C7727 {source="MONDO:equivalentTo"} xref: Orphanet:93558 {source="MONDO:equivalentTo"} @@ -378069,12 +395410,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6906/light-c [Term] id: MONDO:0019731 name: AApoAI amyloidosis +subset: gard_rare {source="GARD:19224"} subset: ordo_clinical_subtype {source="Orphanet:93560"} synonym: "apolipoprotein A-I amyloidosis" EXACT [Orphanet:93560] synonym: "familial amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "familial renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] +xref: GARD:19224 {source="Orphanet:93560"} xref: ICD10CM:E85.0 {source="Orphanet:93560", source="Orphanet:93560/attributed", source="Orphanet:93560/ntbt"} xref: Orphanet:93560 {source="MONDO:equivalentTo"} xref: UMLS:CN206638 {source="MONDO:equivalentTo"} @@ -378083,12 +395426,14 @@ is_a: MONDO:0007099 {source="Orphanet:93560"} ! familial visceral amyloidosis [Term] id: MONDO:0019732 name: ALys amyloidosis +subset: gard_rare {source="GARD:19225"} subset: ordo_clinical_subtype {source="Orphanet:93561"} synonym: "familial amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561] synonym: "familial renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561] synonym: "hereditary amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561] synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561] synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561] +xref: GARD:19225 {source="Orphanet:93561"} xref: ICD10CM:E85.0 {source="Orphanet:93561/attributed", source="Orphanet:93561/ntbt", source="Orphanet:93561"} xref: Orphanet:93561 {source="MONDO:equivalentTo"} xref: UMLS:CN206639 {source="MONDO:equivalentTo"} @@ -378097,11 +395442,13 @@ is_a: MONDO:0007099 {source="Orphanet:93561"} ! familial visceral amyloidosis [Term] id: MONDO:0019733 name: AFib amyloidosis +subset: gard_rare {source="GARD:19226"} subset: ordo_clinical_subtype {source="Orphanet:93562"} synonym: "familial amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] synonym: "fibrinogen A alpha-chain amyloidosis" EXACT [Orphanet:93562] synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] +xref: GARD:19226 {source="Orphanet:93562"} xref: ICD10CM:E85.0 {source="Orphanet:93562", source="Orphanet:93562/attributed", source="Orphanet:93562/ntbt"} xref: Orphanet:93562 {source="MONDO:equivalentTo"} xref: UMLS:CN206640 {source="MONDO:equivalentTo"} @@ -378111,11 +395458,12 @@ is_a: MONDO:0007099 {source="Orphanet:93562"} ! familial visceral amyloidosis id: MONDO:0019734 name: juvenile polymyositis def: "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." [NCIT:C114358] -subset: gard_rare {source="GARD:0012742"} +subset: gard_rare {source="GARD:12742"} subset: ordo_disease {source="Orphanet:93568"} synonym: "JPM" EXACT ABBREVIATION [NCIT:C114358] synonym: "juvenile PM" EXACT [Orphanet:93568] xref: EFO:1001988 {source="MONDO:equivalentTo"} +xref: GARD:12742 {source="Orphanet:93568"} xref: ICD10CM:M33.2 {source="Orphanet:93568", source="Orphanet:93568/ntbt"} xref: NCIT:C114358 {source="MONDO:equivalentTo"} xref: Orphanet:93568 {source="MONDO:equivalentTo"} @@ -378130,10 +395478,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12742/juveni id: MONDO:0019735 name: polymyalgia rheumatica def: "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." [NCIT:P378] +subset: gard_rare {source="GARD:4704"} subset: ordo_disease {source="Orphanet:93569"} synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM:725] synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569] xref: DOID:853 {source="MONDO:equivalentTo"} +xref: GARD:4704 {source="Orphanet:93569"} xref: ICD10CM:M35.3 {source="DOID:853", source="Orphanet:93569/e", source="Orphanet:93569"} xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10068240 {source="Orphanet:93569/e", source="Orphanet:93569"} @@ -378155,12 +395505,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare id: MONDO:0019736 name: dense deposit disease def: "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." [Orphanet:93571] +subset: gard_rare {source="GARD:8555"} subset: ordo_histopathological_subtype {source="Orphanet:93571"} synonym: "glomerulonephritis membranoproliferative type 2" RELATED [GARD:0008555] synonym: "membranoproliferative glomerulonephritis type 2" EXACT [Orphanet:93571] synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:0008555] synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039] synonym: "MPGN 2" RELATED [GARD:0008555] +xref: GARD:8555 {source="Orphanet:93571"} xref: ICD10CM:N04.6 {source="Orphanet:93571", source="Orphanet:93571/e", source="Orphanet:93571/specific"} xref: MESH:D015432 {source="Orphanet:93571", source="Orphanet:93571/e"} xref: NCIT:C123039 {source="MONDO:equivalentTo"} @@ -378175,7 +395527,9 @@ id: MONDO:0019737 name: thrombotic microangiopathy def: "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." [NCIT:C62605] subset: disease_grouping +subset: gard_rare {source="GARD:19227"} subset: ordo_group_of_disorders {source="Orphanet:93573"} +xref: GARD:19227 {source="Orphanet:93573"} xref: ICD10CM:M31.1 {source="MONDO:equivalentTo"} xref: ICD9:446.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043645 {source="Orphanet:93573", source="Orphanet:93573/e"} @@ -378207,12 +395561,14 @@ property_value: confidence "1.2474747474747478" xsd:double [Term] id: MONDO:0019739 name: atypical hemolytic-uremic syndrome with anti-factor H antibodies +subset: gard_rare {source="GARD:16823"} subset: ordo_etiological_subtype {source="Orphanet:93581"} synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies" EXACT OMO:0003005 [] +xref: GARD:16823 {source="Orphanet:93581"} xref: ICD10CM:D58.8 {source="Orphanet:93581", source="Orphanet:93581/attributed", source="Orphanet:93581/ntbt"} xref: Orphanet:93581 {source="MONDO:equivalentTo"} xref: UMLS:CN206652 {source="MONDO:equivalentTo"} @@ -378224,7 +395580,7 @@ property_value: confidence "1.2474747474747478" xsd:double id: MONDO:0019740 name: acquired thrombotic thrombocytopenic purpura def: "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93585] -subset: gard_rare +subset: gard_rare {source="GARD:4607"} subset: ordo_clinical_subtype {source="Orphanet:93585"} synonym: "acquired ADAMTS13 deficiency" EXACT [NCIT:C131653] synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired] @@ -378234,6 +395590,7 @@ synonym: "idiopathic thrombotic thrombocytopenic purpura" RELATED [GARD:0004607] synonym: "Moschowitz syndrome" RELATED [GARD:0004607] synonym: "purpura, thrombotic thrombocytopenic" BROAD [GARD:0004607] synonym: "TTP" BROAD ABBREVIATION [GARD:0004607] +xref: GARD:4607 {source="Orphanet:93585"} xref: ICD10CM:M31.3 {source="Orphanet:93585/ntbt", source="MONDO:relatedTo", source="Orphanet:93585"} xref: MESH:C536901 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e"} xref: NCIT:C131653 {source="MONDO:equivalentTo"} @@ -378250,8 +395607,10 @@ id: MONDO:0019741 name: familial cystic renal disease def: "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:19228"} subset: ordo_group_of_disorders {source="Orphanet:93587"} synonym: "hereditary cystic kidney disease" EXACT [MONDO:patterns/hereditary] +xref: GARD:19228 {source="Orphanet:93587"} xref: Orphanet:93587 {source="MONDO:equivalentTo"} xref: UMLS:CN206655 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="Orphanet:93587", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder @@ -378262,7 +395621,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare [Term] id: MONDO:0019742 name: late-onset nephronophthisis +subset: gard_rare {source="GARD:16824"} subset: ordo_clinical_subtype {source="Orphanet:93589"} +xref: GARD:16824 {source="Orphanet:93589"} xref: ICD10CM:Q61.5 {source="Orphanet:93589", source="Orphanet:93589/attributed", source="Orphanet:93589/ntbt"} xref: Orphanet:93589 {source="MONDO:equivalentTo"} is_a: MONDO:0019005 {source="Orphanet:93589"} ! nephronophthisis @@ -378273,6 +395634,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019743 name: obsolete nephropathy secondary to a storage or other metabolic disease +subset: gard_rare {source="GARD:19229"} +xref: GARD:19229 {source="Orphanet:93593", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93593 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206659 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -378284,7 +395647,9 @@ is_obsolete: true id: MONDO:0019744 name: obsolete rare renal tubular disease subset: disease_grouping +subset: gard_rare {source="GARD:19230"} subset: ordo_group_of_disorders {source="Orphanet:93603"} +xref: GARD:19230 {source="MONDO:obsoleteEquivalent", source="Orphanet:93603"} xref: Orphanet:93603 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0151747 {source="MONDO:relatedTo", source="Orphanet:93603"} property_value: IAO:0000231 OMO:0001000 @@ -378295,7 +395660,9 @@ is_obsolete: true [Term] id: MONDO:0019745 name: cystinuria type A +subset: gard_rare {source="GARD:16827"} subset: ordo_etiological_subtype {source="Orphanet:93612"} +xref: GARD:16827 {source="Orphanet:93612"} xref: ICD10CM:E72.0 {source="Orphanet:93612", source="Orphanet:93612/attributed", source="Orphanet:93612/ntbt"} xref: MESH:C565652 {source="MONDO:equivalentTo"} xref: Orphanet:93612 {source="MONDO:equivalentTo"} @@ -378307,7 +395674,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019746 name: cystinuria type B +subset: gard_rare {source="GARD:16828"} subset: ordo_etiological_subtype {source="Orphanet:93613"} +xref: GARD:16828 {source="Orphanet:93613"} xref: ICD10CM:E72.0 {source="Orphanet:93613/attributed", source="Orphanet:93613/ntbt", source="Orphanet:93613"} xref: Orphanet:93613 {source="MONDO:equivalentTo"} xref: UMLS:C1857389 {source="MONDO:equivalentTo", source="Orphanet:93613"} @@ -378319,7 +395688,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019747 name: obsolete hematological disorder with renal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hematologic disease' +subset: gard_rare {source="GARD:19231"} subset: ordo_group_of_disorders {source="Orphanet:93614"} +xref: GARD:19231 {source="MONDO:obsoleteEquivalent", source="Orphanet:93614"} xref: Orphanet:93614 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227684 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -378331,7 +395702,9 @@ consider: MONDO:0005570 id: MONDO:0019748 name: obsolete rare cause of hypertension subset: disease_grouping +subset: gard_rare {source="GARD:19232"} subset: ordo_group_of_disorders {source="Orphanet:93618"} +xref: GARD:19232 {source="MONDO:obsoleteEquivalent", source="Orphanet:93618"} xref: Orphanet:93618 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227685 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -378344,8 +395717,10 @@ id: MONDO:0019749 name: obsolete rare renal tumor def: "OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19233"} subset: ordo_group_of_disorders {source="Orphanet:93619"} synonym: "rare kidney neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:19233 {source="Orphanet:93619", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93619 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0022665 {source="Orphanet:93619"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -378357,9 +395732,11 @@ id: MONDO:0019750 name: obsolete rare renal disease def: "OBSOLETE. Any of the forms of urinary system disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:22512"} subset: ordo_group_of_disorders {source="Orphanet:93626"} synonym: "rare kidney disease" EXACT [MONDO:patterns/rare] synonym: "rare urinary system disease" EXACT [MONDO:patterns/rare] +xref: GARD:22512 {source="MONDO:obsoleteEquivalent", source="Orphanet:93626"} xref: Orphanet:93626 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206681 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -378372,7 +395749,9 @@ name: autoinflammatory syndrome def: "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." [NCIT:C119050, PMID:23827249] comment: Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom subset: disease_grouping +subset: gard_rare {source="GARD:19234"} subset: ordo_group_of_disorders {source="Orphanet:93665"} +xref: GARD:19234 {source="Orphanet:93665"} xref: ICD10CM:M04-M04 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10072220 {source="Orphanet:93665", source="Orphanet:93665/e"} xref: NCIT:C119050 {source="MONDO:equivalentTo"} @@ -378402,6 +395781,7 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0019753 name: localized Castleman disease def: "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." [Orphanet:93685] +subset: gard_rare {source="GARD:6005"} subset: ordo_clinical_subtype {source="Orphanet:93685"} synonym: "localised Angiofollicular lymphoid hyperplasia" EXACT OMO:0003005 [] synonym: "localized Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C115200] @@ -378409,6 +395789,7 @@ synonym: "localized Castleman disease" EXACT [NCIT:C115200] synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:0006005] synonym: "Unicentric angiofollicular lymph hyperplasia" RELATED [GARD:0006005] synonym: "Unicentric Castleman disease" RELATED [GARD:0006005] +xref: GARD:6005 {source="Orphanet:93685"} xref: ICD10CM:D36.0 {source="Orphanet:93685/ntbt", source="Orphanet:93685"} xref: NCIT:C115200 {source="MONDO:equivalentTo"} xref: Orphanet:93685 {source="MONDO:equivalentTo"} @@ -378420,6 +395801,7 @@ is_a: MONDO:0015564 {source="NCIT:C115200", source="Orphanet:93685"} ! Castleman id: MONDO:0019754 name: multicentric Castleman disease def: "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." [Orphanet:93686] +subset: gard_rare {source="GARD:22310"} subset: ordo_clinical_subtype {source="Orphanet:93686"} synonym: "HHV-8-associated multicentric Castleman disease" EXACT [Orphanet:570438] synonym: "Human herpesvirus-8-associated multicentric Castleman disease" EXACT [Orphanet:570438] @@ -378432,6 +395814,7 @@ synonym: "multicentric plasma cell variant of Castleman's disease" RELATED [GARD synonym: "plasmablastic multicentric Castleman disease" EXACT [DOID:0111152] synonym: "PMCD" EXACT ABBREVIATION [DOID:0111152] xref: DOID:0111152 {source="MONDO:equivalentTo"} +xref: GARD:22310 {source="Orphanet:570438"} xref: ICD10CM:D36.0 {source="Orphanet:93686", source="Orphanet:93686/ntbt"} xref: MESH:C537372 {source="Orphanet:93686", source="Orphanet:93686/e"} xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"} @@ -378447,6 +395830,7 @@ id: MONDO:0019755 name: developmental defect during embryogenesis def: "A disease that has its basis in the disruption of embryonic morphogenesis." [MONDO:design_pattern] subset: disease_grouping +subset: gard_rare {source="GARD:22513"} subset: ordo_group_of_disorders {source="Orphanet:93890"} synonym: "congenital malformation syndrome" EXACT [] synonym: "developmental defect during embryogenesis" EXACT [] @@ -378454,6 +395838,7 @@ synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern, MOND synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern] synonym: "malformation syndrome" EXACT [Orphanet:93890] synonym: "rare developmental defect during embryogenesis" EXACT [Orphanet:93890] +xref: GARD:22513 {source="Orphanet:93890"} xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q80-Q89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:759.7 @@ -378469,7 +395854,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0048598 ! embryonic morph id: MONDO:0019756 name: lobar holoprosencephaly def: "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." [Orphanet:93924] +subset: gard_rare {source="GARD:16830"} subset: ordo_clinical_subtype {source="Orphanet:93924"} +xref: GARD:16830 {source="Orphanet:93924"} xref: ICD10CM:Q04.2 {source="Orphanet:93924/attributed", source="Orphanet:93924/ntbt", source="Orphanet:93924"} xref: Orphanet:93924 {source="MONDO:equivalentTo"} xref: SCTID:253136007 {source="MONDO:equivalentTo"} @@ -378480,7 +395867,9 @@ is_a: MONDO:0016296 {source="Orphanet:93924"} ! holoprosencephaly id: MONDO:0019757 name: alobar holoprosencephaly def: "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." [Orphanet:93925] +subset: gard_rare {source="GARD:16831"} subset: ordo_clinical_subtype {source="Orphanet:93925"} +xref: GARD:16831 {source="Orphanet:93925"} xref: ICD10CM:Q04.2 {source="Orphanet:93925/attributed", source="Orphanet:93925/ntbt", source="Orphanet:93925"} xref: Orphanet:93925 {source="MONDO:equivalentTo"} xref: SCTID:253137003 {source="MONDO:equivalentTo"} @@ -378491,6 +395880,7 @@ is_a: MONDO:0016296 {source="Orphanet:93925"} ! holoprosencephaly id: MONDO:0019758 name: obsolete midline interhemispheric variant of holoprosencephaly def: "OBSOLETE. Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." [Orphanet:93926] +subset: gard_rare {source="GARD:16832"} synonym: "middle interhemispheric fusion variant" EXACT [Orphanet:93926] synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [Orphanet:93926] synonym: "MIH" EXACT ABBREVIATION [Orphanet:93926] @@ -378498,6 +395888,7 @@ synonym: "MIH type HPE" EXACT [Orphanet:93926] synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926] synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926] synonym: "Syntelencephaly" EXACT [Orphanet:93926] +xref: GARD:16832 {source="MONDO:obsoleteEquivalent", source="Orphanet:93926"} xref: ICD10CM:Q04.2 {source="Orphanet:93926/attributed", source="Orphanet:93926/ntbt", source="Orphanet:93926"} xref: Orphanet:93926 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206692 {source="MONDO:obsoleteEquivalent"} @@ -378514,9 +395905,11 @@ is_obsolete: true id: MONDO:0019759 name: epispadias def: "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." [Orphanet:93928] +subset: gard_rare {source="GARD:19235"} subset: ordo_clinical_subtype {source="Orphanet:93928"} synonym: "epispadias" EXACT [MONDO:ambiguous] synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19235 {source="Orphanet:93928"} xref: HP:0000039 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.0 {source="Orphanet:93928", source="Orphanet:93928/e", source="Orphanet:93928/specific"} xref: ICD9:752.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -378548,10 +395941,12 @@ property_value: confidence "7.4" xsd:double id: MONDO:0019761 name: laryngotracheoesophageal cleft type 1 def: "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." [Orphanet:93938] +subset: gard_rare {source="GARD:19236"} subset: ordo_clinical_subtype {source="Orphanet:93938"} synonym: "laryngo-tracheo-esophageal cleft type 1" EXACT [Orphanet:93938] synonym: "LTEC I" EXACT [Orphanet:93938] synonym: "LTEC1" EXACT ABBREVIATION [Orphanet:93938] +xref: GARD:19236 {source="Orphanet:93938"} xref: ICD10CM:Q32.1 {source="Orphanet:93938", source="Orphanet:93938/ntbt"} xref: Orphanet:93938 {source="MONDO:equivalentTo"} xref: UMLS:CN206696 {source="MONDO:equivalentTo"} @@ -378561,10 +395956,12 @@ is_a: MONDO:0016060 {source="Orphanet:93938"} ! laryngotracheoesophageal cleft id: MONDO:0019762 name: laryngotracheoesophageal cleft type 2 def: "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." [Orphanet:93939] +subset: gard_rare {source="GARD:19237"} subset: ordo_clinical_subtype {source="Orphanet:93939"} synonym: "laryngo-tracheo-esophageal cleft type 2" EXACT [Orphanet:93939] synonym: "LTEC II" EXACT [Orphanet:93939] synonym: "LTEC2" EXACT ABBREVIATION [Orphanet:93939] +xref: GARD:19237 {source="Orphanet:93939"} xref: ICD10CM:Q32.1 {source="Orphanet:93939", source="Orphanet:93939/ntbt"} xref: Orphanet:93939 {source="MONDO:equivalentTo"} xref: UMLS:CN206697 {source="MONDO:equivalentTo"} @@ -378574,10 +395971,12 @@ is_a: MONDO:0016060 {source="Orphanet:93939"} ! laryngotracheoesophageal cleft id: MONDO:0019763 name: laryngotracheoesophageal cleft type 3 def: "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." [Orphanet:93940] +subset: gard_rare {source="GARD:16833"} subset: ordo_clinical_subtype {source="Orphanet:93940"} synonym: "laryngo-tracheo-esophageal cleft type 3" EXACT [Orphanet:93940] synonym: "LTEC III" EXACT [Orphanet:93940] synonym: "LTEC3" EXACT ABBREVIATION [Orphanet:93940] +xref: GARD:16833 {source="Orphanet:93940"} xref: ICD10CM:Q32.1 {source="Orphanet:93940", source="Orphanet:93940/ntbt"} xref: Orphanet:93940 {source="MONDO:equivalentTo"} xref: UMLS:CN206698 {source="MONDO:equivalentTo"} @@ -378587,10 +395986,12 @@ is_a: MONDO:0016060 {source="Orphanet:93940"} ! laryngotracheoesophageal cleft id: MONDO:0019764 name: laryngotracheoesophageal cleft type 4 def: "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." [Orphanet:93941] +subset: gard_rare {source="GARD:19238"} subset: ordo_clinical_subtype {source="Orphanet:93941"} synonym: "laryngo-tracheo-esophageal cleft type 4" EXACT [Orphanet:93941] synonym: "LTEC IV" EXACT [Orphanet:93941] synonym: "LTEC4" EXACT ABBREVIATION [Orphanet:93941] +xref: GARD:19238 {source="Orphanet:93941"} xref: ICD10CM:Q32.1 {source="Orphanet:93941", source="Orphanet:93941/ntbt"} xref: Orphanet:93941 {source="MONDO:equivalentTo"} xref: UMLS:CN206699 {source="MONDO:equivalentTo"} @@ -378612,7 +396013,9 @@ consider: HP:0100657 [Term] id: MONDO:0019766 name: X-linked intellectual disability, Porteous type +subset: gard_rare {source="GARD:19239"} subset: ordo_clinical_subtype {source="Orphanet:93945"} +xref: GARD:19239 {source="Orphanet:93945"} xref: Orphanet:93945 {source="MONDO:equivalentTo"} xref: UMLS:CN206701 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93945"} ! Renpenning syndrome @@ -378621,7 +396024,9 @@ is_a: MONDO:0010653 {source="Orphanet:93945"} ! Renpenning syndrome id: MONDO:0019767 name: hamel cerebro-palato-cardiac syndrome def: "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93946] +subset: gard_rare {source="GARD:19240"} subset: ordo_clinical_subtype {source="Orphanet:93946"} +xref: GARD:19240 {source="Orphanet:93946"} xref: Orphanet:93946 {source="MONDO:equivalentTo"} xref: UMLS:CN206702 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome @@ -378630,7 +396035,9 @@ is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome id: MONDO:0019768 name: X-linked intellectual disability, Golabi-Ito-hall type def: "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93947] +subset: gard_rare {source="GARD:19241"} subset: ordo_clinical_subtype {source="Orphanet:93947"} +xref: GARD:19241 {source="Orphanet:93947"} xref: Orphanet:93947 {source="MONDO:equivalentTo"} xref: UMLS:CN206703 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93947"} ! Renpenning syndrome @@ -378638,7 +396045,9 @@ is_a: MONDO:0010653 {source="Orphanet:93947"} ! Renpenning syndrome [Term] id: MONDO:0019769 name: X-linked intellectual disability, Sutherland-Haan type +subset: gard_rare {source="GARD:19242"} subset: ordo_clinical_subtype {source="Orphanet:93950"} +xref: GARD:19242 {source="Orphanet:93950"} xref: Orphanet:93950 {source="MONDO:equivalentTo"} xref: UMLS:CN206704 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93950"} ! Renpenning syndrome @@ -378655,8 +396064,10 @@ is_a: MONDO:0016160 {source="Orphanet:93951"} ! X-linked intellectual disability id: MONDO:0019771 name: oromandibular dystonia def: "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." [Orphanet:93958] +subset: gard_rare {source="GARD:19243"} subset: ordo_disease {source="Orphanet:93958"} xref: DOID:0050843 {source="MONDO:equivalentTo"} +xref: GARD:19243 {source="Orphanet:93958"} xref: ICD10CM:G24.4 {source="Orphanet:93958/specific", source="Orphanet:93958/e", source="Orphanet:93958"} xref: Orphanet:93958 {source="MONDO:equivalentTo"} xref: UMLS:C0393607 {source="Orphanet:93958/e", source="MONDO:equivalentTo", source="Orphanet:93958"} @@ -378667,6 +396078,7 @@ is_a: MONDO:0015990 {source="Orphanet:93958"} ! focal, segmental or multifocal d id: MONDO:0019772 name: blepharospasm-oromandibular dystonia syndrome def: "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." [Orphanet:93964] +subset: gard_rare {source="GARD:7008"} subset: ordo_disease {source="Orphanet:93964"} synonym: "blepharospasm - oromandibular dystonia" RELATED [GARD:0007008] synonym: "blepharospasm-oromandibular dystonia" RELATED [GARD:0007008] @@ -378678,6 +396090,7 @@ synonym: "Meige's syndrome" RELATED [GARD:0007008] synonym: "oral facial dystonia" RELATED [GARD:0007008] synonym: "segmental cranial dystonia" RELATED [GARD:0007008] xref: DOID:3982 {source="MONDO:equivalentTo"} +xref: GARD:7008 {source="Orphanet:93964"} xref: ICD10CM:G24.8 {source="Orphanet:93964", source="Orphanet:93964/attributed", source="Orphanet:93964/ntbt"} xref: MESH:D008538 {source="DOID:3982", source="MONDO:equivalentTo"} xref: Orphanet:93964 {source="MONDO:equivalentTo"} @@ -378689,11 +396102,12 @@ is_a: MONDO:0015990 {source="Orphanet:93964"} ! focal, segmental or multifocal d id: MONDO:0019773 name: myelomeningocele def: "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." [https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele] -subset: gard_rare {source="GARD:0003475"} +subset: gard_rare {source="GARD:3475"} subset: ordo_morphological_anomaly {source="Orphanet:93969"} synonym: "meningomyelocele" RELATED [GARD:0003475] xref: DOID:0060326 {source="MONDO:equivalentTo"} xref: EFO:1001369 {source="MONDO:equivalentTo"} +xref: GARD:3475 {source="Orphanet:93969"} xref: HP:0002475 {source="MONDO:otherHierarchy", source="DOID:0060326"} xref: ICD10CM:Q05 {source="DOID:0060326"} xref: ICD10CM:Q05.0 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} @@ -378787,7 +396201,6 @@ replaced_by: MONDO:0010663 id: MONDO:0019779 name: obsolete Renier-Gabreels-Jasper syndrome def: "OBSOLETE. Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93975] -subset: gard_rare {source="GARD:0004672"} subset: ordo_malformation_syndrome {source="Orphanet:93975"} synonym: "Renier Gabreels Jasper syndrome" RELATED [GARD:0004672] xref: Orphanet:93975 {source="MONDO:obsoleteEquivalentObsolete"} @@ -378804,7 +396217,9 @@ consider: MONDO:0010663 id: MONDO:0019780 name: anotia def: "A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." [https://orcid.org/0000-0001-5208-3432, Orphanet:93976] +subset: gard_rare {source="GARD:16835"} subset: ordo_morphological_anomaly {source="Orphanet:93976"} +xref: GARD:16835 {source="Orphanet:93976"} xref: ICD10CM:Q16.0 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} xref: ICD10CM:Q16.1 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} xref: ICD9:744.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -378835,8 +396250,10 @@ relationship: disease_has_location CL:0000127 ! astrocyte [Term] id: MONDO:0019782 name: humero-ulnar synostosis +subset: gard_rare {source="GARD:19244"} subset: ordo_morphological_anomaly {source="Orphanet:94056"} synonym: "humero-ulnar fusion" EXACT [Orphanet:94056] +xref: GARD:19244 {source="Orphanet:94056"} xref: ICD10CM:Q74.0 {source="Orphanet:94056/attributed", source="Orphanet:94056/ntbt", source="Orphanet:94056"} xref: Orphanet:94056 {source="MONDO:equivalentTo"} xref: UMLS:C0431799 {source="Orphanet:94056", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94056/e"} @@ -378849,10 +396266,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019783 name: neovascular glaucoma def: "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." [Orphanet:94058] +subset: gard_rare {source="GARD:19245"} subset: ordo_clinical_situation {source="Orphanet:94058"} synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [DOID:1687] xref: DOID:1687 {source="MONDO:equivalentTo", source="EFO:1001060"} xref: EFO:1001060 {source="MONDO:equivalentTo"} +xref: GARD:19245 {source="Orphanet:94058"} xref: MedDRA:10062891 {source="Orphanet:94058", source="Orphanet:94058/e", source="EFO:1001060"} xref: MESH:D015355 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e", source="EFO:1001060"} xref: Orphanet:94058 {source="MONDO:equivalentTo"} @@ -378867,13 +396286,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0019784 name: 12q14 microdeletion syndrome def: "12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis." [Orphanet:94063] -subset: gard_rare {source="GARD:0013390"} +subset: gard_rare {source="GARD:13390"} subset: ordo_malformation_syndrome {source="Orphanet:94063"} synonym: "Del(12)(q14)" EXACT [Orphanet:94063] synonym: "deletion 12q14" EXACT [Orphanet:94063] synonym: "monosomy 12q14" EXACT [Orphanet:94063] synonym: "osteopoikilosis-short stature-intellectual disability syndrome" EXACT [Orphanet:94063] xref: DECIPHER:76 {source="MONDO:equivalentTo"} +xref: GARD:13390 {source="Orphanet:94063"} xref: ICD10CM:Q93.5 {source="Orphanet:94063/attributed", source="Orphanet:94063/ntbt", source="Orphanet:94063"} xref: Orphanet:94063 {source="MONDO:equivalentTo"} xref: SCTID:719046005 {source="MONDO:equivalentTo"} @@ -378898,7 +396318,9 @@ replaced_by: MONDO:0013256 id: MONDO:0019786 name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia def: "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14." [Orphanet:94066] +subset: gard_rare {source="GARD:19247"} subset: ordo_malformation_syndrome {source="Orphanet:94066"} +xref: GARD:19247 {source="Orphanet:94066"} xref: ICD10CM:Q87.8 {source="Orphanet:94066", source="Orphanet:94066/attributed", source="Orphanet:94066/ntbt"} xref: Orphanet:94066 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:94066"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -378911,10 +396333,12 @@ id: MONDO:0019787 name: autoimmune enteropathy def: "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." [Orphanet:94075] subset: disease_grouping +subset: gard_rare {source="GARD:8689"} subset: ordo_group_of_disorders {source="Orphanet:94075"} synonym: "immune-mediated protracted diarrhea of infancy" EXACT [Orphanet:94075] synonym: "immune-mediated protracted diarrhoea of infancy" EXACT OMO:0003005 [] synonym: "severe immune-mediated enteropathy" EXACT [Orphanet:94075] +xref: GARD:8689 {source="Orphanet:94075"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538273 {source="MONDO:equivalentTo"} xref: NCIT:C94694 {source="MONDO:equivalentTo"} @@ -378931,8 +396355,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare id: MONDO:0019788 name: non-secreting paraganglioma def: "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed." [Orphanet:94080] +subset: gard_rare {source="GARD:19248"} subset: ordo_disease {source="Orphanet:94080"} synonym: "non-functioning paraganglioma" RELATED [Orphanet:94080] +xref: GARD:19248 {source="Orphanet:94080"} xref: Orphanet:94080 {source="MONDO:equivalentTo"} xref: SCTID:764999002 {source="MONDO:equivalentTo"} is_a: MONDO:0000448 {source="MONDO:cjm"} ! paraganglioma @@ -378944,9 +396370,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020005"} ! rare id: MONDO:0019789 name: cytophagic histiocytic panniculitis def: "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." [Orphanet:94087] +subset: gard_rare {source="GARD:19249"} subset: ordo_disease {source="Orphanet:94087"} synonym: "CHP" EXACT ABBREVIATION [Orphanet:94087] synonym: "Winkelmann cytophagic panniculitis" EXACT [Orphanet:94087] +xref: GARD:19249 {source="Orphanet:94087"} xref: ICD10CM:M35.8 {source="Orphanet:94087", source="Orphanet:94087/ntbt"} xref: Orphanet:94087 {source="MONDO:equivalentTo"} xref: SCTID:238883003 {source="MONDO:equivalentTo"} @@ -378958,11 +396386,12 @@ is_a: MONDO:0019296 {source="Orphanet:94087"} ! subcutaneous tissue disorder id: MONDO:0019790 name: neuroleptic malignant syndrome def: "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." [Orphanet:94093] -subset: gard_rare {source="GARD:0007195"} +subset: gard_rare {source="GARD:7195"} subset: ordo_disease {source="Orphanet:94093"} synonym: "NMS" EXACT ABBREVIATION [NCIT:C94829] xref: DOID:14464 {source="MONDO:equivalentTo"} xref: EFO:1001379 {source="MONDO:equivalentTo"} +xref: GARD:7195 {source="Orphanet:94093"} xref: ICD10CM:G21.0 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} xref: ICD9:333.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14464"} xref: MedDRA:10029282 {source="Orphanet:94093/e", source="Orphanet:94093"} @@ -378980,9 +396409,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7195/neurole [Term] id: MONDO:0019791 name: recessive mitochondrial ataxia syndrome +subset: gard_rare {source="GARD:19251"} subset: ordo_disease {source="Orphanet:94125"} synonym: "MIRAS" EXACT ABBREVIATION [Orphanet:94125] xref: EFO:0008816 {source="MONDO:equivalentTo"} +xref: GARD:19251 {source="Orphanet:94125"} xref: ICD10CM:G11.8 {source="Orphanet:94125/attributed", source="Orphanet:94125/ntbt", source="Orphanet:94125"} xref: Orphanet:94125 {source="MONDO:equivalentTo"} xref: UMLS:CN206743 {source="MONDO:equivalentTo"} @@ -378994,11 +396425,13 @@ id: MONDO:0019792 name: autosomal dominant cerebellar ataxia type I def: "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." [Orphanet:94145] subset: disease_grouping +subset: gard_rare {source="GARD:19252"} subset: ordo_group_of_disorders {source="Orphanet:94145"} synonym: "ADCA1" EXACT ABBREVIATION [Orphanet:94145] synonym: "ADCAI" EXACT ABBREVIATION [Orphanet:94145] synonym: "autosomal dominant cerebellar ataxia type 1" EXACT [Orphanet:94145] synonym: "cerebellar plus syndrome" EXACT [Orphanet:94145] +xref: GARD:19252 {source="Orphanet:94145"} xref: ICD10CM:G11.8 {source="Orphanet:94145", source="Orphanet:94145/attributed", source="Orphanet:94145/ntbt"} xref: Orphanet:94145 {source="MONDO:equivalentTo"} xref: UMLS:CN206744 {source="MONDO:equivalentTo"} @@ -379009,12 +396442,14 @@ id: MONDO:0019793 name: autosomal dominant cerebellar ataxia type III def: "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31." [Orphanet:94148] subset: disease_grouping +subset: gard_rare {source="GARD:19253"} subset: ordo_group_of_disorders {source="Orphanet:94148"} synonym: "ADCA3" EXACT ABBREVIATION [Orphanet:94148] synonym: "ADCAIII" EXACT ABBREVIATION [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type 3" EXACT [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type III" EXACT [Orphanet:94148] synonym: "Pure cerebellar syndrome-mild pyramidal signs syndrome" EXACT [Orphanet:94148] +xref: GARD:19253 {source="Orphanet:94148"} xref: ICD10CM:G11.8 {source="Orphanet:94148", source="Orphanet:94148/attributed", source="Orphanet:94148/ntbt"} xref: Orphanet:94148 {source="MONDO:equivalentTo"} xref: UMLS:CN206746 {source="MONDO:equivalentTo"} @@ -379024,11 +396459,13 @@ is_a: MONDO:0020380 {source="Orphanet:94148"} ! autosomal dominant cerebellar at id: MONDO:0019794 name: autosomal dominant cerebellar ataxia type IV subset: disease_grouping +subset: gard_rare {source="GARD:19254"} subset: ordo_group_of_disorders {source="Orphanet:94149"} synonym: "ADCA4" EXACT ABBREVIATION [Orphanet:94149] synonym: "ADCAIV" EXACT ABBREVIATION [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type 4" EXACT [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type IV" EXACT [Orphanet:94149] +xref: GARD:19254 {source="Orphanet:94149"} xref: ICD10CM:G11.8 {source="Orphanet:94149", source="Orphanet:94149/attributed", source="Orphanet:94149/ntbt"} xref: Orphanet:94149 {source="MONDO:equivalentTo"} xref: UMLS:CN229225 {source="MONDO:equivalentTo"} @@ -379038,10 +396475,11 @@ is_a: MONDO:0020380 {source="Orphanet:94149"} ! autosomal dominant cerebellar at id: MONDO:0019795 name: acalvaria def: "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." [Orphanet:945] -subset: gard_rare {source="GARD:0000361"} +subset: gard_rare {source="GARD:361"} subset: ordo_malformation_syndrome {source="Orphanet:945"} synonym: "Acrania" EXACT [Orphanet:945] synonym: "primary acalvaria" RELATED [GARD:0000361] +xref: GARD:361 {source="Orphanet:945"} xref: ICD10CM:Q00.0 {source="Orphanet:945", source="Orphanet:945/ntbt"} xref: MESH:C535570 {source="MONDO:equivalentTo", source="Orphanet:945", source="Orphanet:945/e"} xref: MESH:D009436 {source="MONDO:relatedTo", source="Orphanet:945", source="Orphanet:945/e"} @@ -379058,7 +396496,6 @@ id: MONDO:0019796 name: acrocephalosyndactyly def: "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." [Orphanet:946] subset: disease_grouping -subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:946"} synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946] synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348] @@ -379087,7 +396524,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019797 name: acrodysostosis def: "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." [Orphanet:950] -subset: gard_rare {source="GARD:0005724"} +subset: gard_rare {source="GARD:5724"} subset: ordo_malformation_syndrome {source="Orphanet:950"} synonym: "acrodysplasia" EXACT [Orphanet:950] synonym: "Arkless-Graham syndrome" EXACT [Orphanet:950] @@ -379095,6 +396532,7 @@ synonym: "Maroteaux-Malamut syndrome" EXACT [Orphanet:950] synonym: "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome" RELATED [GARD:0005724] synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" RELATED [GARD:0005724] xref: DOID:14669 {source="MONDO:equivalentTo"} +xref: GARD:5724 {source="Orphanet:950"} xref: ICD10CM:Q75.4 {source="Orphanet:950", source="Orphanet:950/attributed", source="Orphanet:950/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} @@ -379118,9 +396556,11 @@ replaced_by: MONDO:0002520 id: MONDO:0019799 name: hepatoerythropoietic porphyria def: "A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." [https://orcid.org/0000-0001-5208-3432, Orphanet:95159] +subset: gard_rare {source="GARD:6169"} subset: ordo_disease {source="Orphanet:95159"} synonym: "HEP" EXACT ABBREVIATION [OMIM:176100, Orphanet:95159] xref: DOID:5230 {source="MONDO:equivalentTo"} +xref: GARD:6169 {source="Orphanet:95159"} xref: ICD10CM:E80.2 {source="Orphanet:95159/attributed", source="Orphanet:95159/ntbt", source="Orphanet:95159"} xref: MESH:D017121 {source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} xref: NCIT:C84754 {source="MONDO:equivalentTo", source="DOID:5230"} @@ -379140,8 +396580,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019800 name: obsolete chronic hepatic porphyria def: "OBSOLETE. Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." [Orphanet:95161] +subset: gard_rare {source="GARD:19256"} synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern] +xref: GARD:19256 {source="MONDO:obsoleteEquivalent", source="Orphanet:95161"} xref: ICD10CM:E80.2 {source="Orphanet:95161/attributed", source="Orphanet:95161/ntbt", source="Orphanet:95161"} xref: Orphanet:95161 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019142 {source="Orphanet:95161"} ! inherited porphyria @@ -379156,12 +396598,14 @@ is_obsolete: true id: MONDO:0019801 name: acute adrenal insufficiency def: "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." [Orphanet:95409] +subset: gard_rare {source="GARD:19257"} subset: ordo_clinical_syndrome {source="Orphanet:95409"} synonym: "acute adrenal failure" EXACT [Orphanet:95409] synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409] synonym: "Addisonian crisis" EXACT [Orphanet:95409] synonym: "adrenal crisis" EXACT [Orphanet:95409] synonym: "adrenocortical crisis" EXACT [Orphanet:95409] +xref: GARD:19257 {source="Orphanet:95409"} xref: ICD10CM:E27.2 {source="Orphanet:95409/ntbt", source="Orphanet:95409"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C112840 {source="MONDO:equivalentTo"} @@ -379175,7 +396619,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0019802 name: secondary short bowel syndrome def: "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:95427] +subset: gard_rare {source="GARD:19258"} subset: ordo_disease {source="Orphanet:95427"} +xref: GARD:19258 {source="Orphanet:95427"} xref: ICD10CM:K91.2 {source="Orphanet:95427", source="Orphanet:95427/btnt"} xref: Orphanet:95427 {source="MONDO:equivalentTo"} xref: UMLS:CN206757 {source="MONDO:equivalentTo"} @@ -379186,9 +396632,11 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0019803 name: angioma serpiginosum def: "Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." [Orphanet:95429] +subset: gard_rare {source="GARD:15021"} subset: ordo_disease {source="Orphanet:95429"} synonym: "angioma serpiginosum of skin" EXACT [DOID:4028] xref: DOID:4028 {source="MONDO:equivalentTo"} +xref: GARD:15021 {source="Orphanet:95429"} xref: ICD10CM:L81.7 {source="DOID:4028", source="Orphanet:95429/inclusion", source="Orphanet:95429", source="Orphanet:95429/ntbt"} xref: MESH:C536366 {source="DOID:4028"} xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"} @@ -379209,12 +396657,14 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source=" id: MONDO:0019804 name: tracheomalacia def: "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." [Orphanet:95430] +subset: gard_rare {source="GARD:10515"} subset: ordo_morphological_anomaly {source="Orphanet:95430"} synonym: "congenital major airway collapse" EXACT [Orphanet:95430] synonym: "congenital tracheomalacia" EXACT [DOID:0060313] synonym: "tracheomalacia, congenital" RELATED [GARD:0010515] synonym: "type 1 tracheomalacia" RELATED [GARD:0010515] xref: DOID:0060313 {source="MONDO:equivalentTo"} +xref: GARD:10515 {source="Orphanet:95430"} xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"} xref: ICD10CM:Q32.0 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313", source="Orphanet:95430/specific"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -379233,6 +396683,7 @@ is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinol id: MONDO:0019805 name: twin to twin transfusion syndrome def: "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" [Orphanet:95431] +subset: gard_rare {source="GARD:325"} subset: ordo_disease {source="Orphanet:95431"} synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576] @@ -379251,6 +396702,7 @@ synonym: "twin-to-twin transfusion syndrome" EXACT [MONDO:0007003] synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824] xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"} xref: EFO:1001221 {source="MONDO:equivalentTo"} +xref: GARD:325 {source="Orphanet:95431"} xref: ICD10CM:O43.0 {source="Orphanet:95431/ntbt", source="Orphanet:95431"} xref: ICD10CM:O43.02 {source="DOID:13576"} xref: ICD10CM:O43.029 {source="DOID:13576"} @@ -379272,11 +396724,13 @@ id: MONDO:0019806 name: primary progressive aphasia def: "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." [Orphanet:95432] subset: disease_grouping +subset: gard_rare {source="GARD:8541"} subset: ordo_group_of_disorders {source="Orphanet:95432"} synonym: "Mesulam syndrome" EXACT [Orphanet:95432] synonym: "PPA" EXACT ABBREVIATION [OMIM:607485, Orphanet:95432] synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541] xref: EFO:0009053 {source="MONDO:equivalentTo"} +xref: GARD:8541 {source="Orphanet:95432"} xref: ICD10CM:G31.0 {source="Orphanet:95432", source="Orphanet:95432/ntbt"} xref: MESH:D018888 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e"} xref: NCIT:C85024 {source="MONDO:equivalentTo"} @@ -379289,10 +396743,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019807 name: mesocardia +subset: gard_rare {source="GARD:19259"} subset: ordo_morphological_anomaly {source="Orphanet:95443"} synonym: "mesocardia" EXACT [MONDO:ambiguous] synonym: "mesocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Midline heart" EXACT [Orphanet:95443] +xref: GARD:19259 {source="Orphanet:95443"} xref: HP:0011599 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="Orphanet:95443/ntbt"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -379309,11 +396765,13 @@ property_value: IAO:0000589 "mesocardia (disease)" xsd:string id: MONDO:0019808 name: aortic valve atresia def: "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." [NCIT:C98818] +subset: gard_rare {source="GARD:19260"} subset: ordo_clinical_subtype {source="Orphanet:95448"} synonym: "aortic valve atresia" EXACT [MONDO:ambiguous] synonym: "aortic valve atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818] synonym: "congenital atresia of aortic valve" EXACT [NCIT:C98818] +xref: GARD:19260 {source="Orphanet:95448"} xref: HP:0010883 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q23.0 {source="Orphanet:95448", source="Orphanet:95448/ntbt"} xref: MedDRA:10066801 {source="Orphanet:95448", source="Orphanet:95448/e"} @@ -379351,7 +396809,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019810 name: toxic epidermal necrolysis def: "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." [Orphanet:95455] -subset: gard_rare {source="GARD:0007743"} +subset: gard_rare {source="GARD:7743"} subset: ordo_disease {source="Orphanet:95455"} synonym: "Lyell syndrome" NARROW [NCIT:C79777] synonym: "Lyell's syndrome" NARROW [NCIT:C79777] @@ -379360,6 +396818,7 @@ synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED synonym: "TEN" EXACT ABBREVIATION [NCIT:C79777] synonym: "toxic epidermolysis" EXACT [Orphanet:95455] xref: EFO:0004775 {source="MONDO:equivalentTo"} +xref: GARD:7743 {source="Orphanet:95455"} xref: ICD10CM:L51.2 {source="Orphanet:95455", source="Orphanet:95455/e"} xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044223 {source="Orphanet:95455", source="Orphanet:95455/e"} @@ -379375,8 +396834,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7743/toxic-e [Term] id: MONDO:0019811 name: tricuspid valve agenesis +subset: gard_rare {source="GARD:19261"} subset: ordo_morphological_anomaly {source="Orphanet:95457"} synonym: "congenital unguarded tricuspid orifice" EXACT [Orphanet:95457] +xref: GARD:19261 {source="Orphanet:95457"} xref: ICD10CM:Q22.4 {source="Orphanet:95457", source="MONDO:directSiblingOf", source="Orphanet:95457/ntbt"} xref: Orphanet:95457 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95457"} ! congenital tricuspid malformation @@ -379390,7 +396851,9 @@ replaced_by: MONDO:0007001 [Term] id: MONDO:0019813 name: congenital tricuspid stenosis +subset: gard_rare {source="GARD:19262"} subset: ordo_morphological_anomaly {source="Orphanet:95459"} +xref: GARD:19262 {source="Orphanet:95459"} xref: ICD10CM:Q22.4 {source="MONDO:equivalentTo", source="Orphanet:95459", source="Orphanet:95459/e"} xref: MedDRA:10010656 {source="Orphanet:95459", source="Orphanet:95459/e"} xref: Orphanet:95459 {source="MONDO:equivalentTo"} @@ -379402,7 +396865,9 @@ is_a: MONDO:0020289 {source="Orphanet:95459"} ! congenital tricuspid malformatio id: MONDO:0019814 name: straddling or overriding tricuspid valve def: "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." [Orphanet:95461] +subset: gard_rare {source="GARD:19263"} subset: ordo_morphological_anomaly {source="Orphanet:95461"} +xref: GARD:19263 {source="Orphanet:95461"} xref: ICD10CM:Q22.8 {source="Orphanet:95461/ntbt", source="Orphanet:95461"} xref: Orphanet:95461 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95461"} ! congenital tricuspid malformation @@ -379411,7 +396876,9 @@ is_a: MONDO:0020289 {source="Orphanet:95461"} ! congenital tricuspid malformatio id: MONDO:0019815 name: accessory tricuspid valve tissue def: "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." [Orphanet:95462] +subset: gard_rare {source="GARD:19264"} subset: ordo_morphological_anomaly {source="Orphanet:95462"} +xref: GARD:19264 {source="Orphanet:95462"} xref: ICD10CM:Q22.8 {source="Orphanet:95462", source="Orphanet:95462/ntbt"} xref: Orphanet:95462 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformation @@ -379419,6 +396886,8 @@ is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformatio [Term] id: MONDO:0019816 name: obsolete anomaly of the tricuspid subvalvular apparatus +subset: gard_rare {source="GARD:19265"} +xref: GARD:19265 {source="Orphanet:95463", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q22.8 {source="Orphanet:95463", source="Orphanet:95463/ntbt"} xref: Orphanet:95463 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379431,7 +396900,9 @@ is_obsolete: true id: MONDO:0019817 name: congenital mitral valve insufficiency and/or stenosis subset: disease_grouping +subset: gard_rare {source="GARD:19266"} subset: ordo_group_of_disorders {source="Orphanet:95464"} +xref: GARD:19266 {source="Orphanet:95464"} xref: ICD10CM:Q23 {source="MONDO:equivalentTo"} xref: ICD10CM:Q23.2 {source="Orphanet:95464/btnt", source="Orphanet:95464"} xref: ICD10CM:Q23.3 {source="Orphanet:95464/btnt", source="Orphanet:95464"} @@ -379441,7 +396912,9 @@ is_a: MONDO:0016582 {source="Orphanet:95464"} ! congenital mitral malformation [Term] id: MONDO:0019818 name: cleft mitral valve +subset: gard_rare {source="GARD:19267"} subset: ordo_morphological_anomaly {source="Orphanet:95465"} +xref: GARD:19267 {source="Orphanet:95465"} xref: ICD10CM:Q23.3 {source="Orphanet:95465", source="Orphanet:95465/ntbt"} xref: Orphanet:95465 {source="MONDO:equivalentTo"} is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation @@ -379449,7 +396922,9 @@ is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation [Term] id: MONDO:0019819 name: double-orifice mitral valve +subset: gard_rare {source="GARD:19268"} subset: ordo_clinical_subtype {source="Orphanet:95474"} +xref: GARD:19268 {source="Orphanet:95474"} xref: ICD10CM:Q23.8 {source="Orphanet:95474", source="Orphanet:95474/ntbt"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:95474 {source="MONDO:equivalentTo"} @@ -379461,7 +396936,9 @@ is_a: MONDO:0019818 {source="Orphanet:95474"} ! cleft mitral valve id: MONDO:0019820 name: univentricular cardiopathy subset: disease_grouping +subset: gard_rare {source="GARD:19269"} subset: ordo_group_of_disorders {source="Orphanet:95483"} +xref: GARD:19269 {source="Orphanet:95483"} xref: Orphanet:95483 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="Orphanet:95483"} ! congenital heart malformation @@ -379480,7 +396957,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019822 name: obsolete arterial duct anomaly +subset: gard_rare {source="GARD:19270"} synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485] +xref: GARD:19270 {source="Orphanet:95485", source="MONDO:obsoleteEquivalent"} xref: Orphanet:95485 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -379492,8 +396971,10 @@ is_obsolete: true id: MONDO:0019823 name: premature closure of the arterial duct def: "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." [Orphanet:95486] +subset: gard_rare {source="GARD:19271"} subset: ordo_morphological_anomaly {source="Orphanet:95486"} synonym: "premature closure of the patent ductus arteriosus" EXACT [Orphanet:95486] +xref: GARD:19271 {source="Orphanet:95486"} xref: ICD10CM:Q25.8 {source="Orphanet:95486/ntbt", source="Orphanet:95486"} xref: Orphanet:95486 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559"} ! cardiovascular disorder @@ -379506,7 +396987,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019824 name: non-acquired pituitary hormone deficiency subset: disease_grouping +subset: gard_rare {source="GARD:19272"} subset: ordo_group_of_disorders {source="Orphanet:95488"} +xref: GARD:19272 {source="Orphanet:95488"} xref: ICD10CM:E23.0 {source="Orphanet:95488/attributed", source="Orphanet:95488/ntbt", source="MONDO:relatedTo", source="Orphanet:95488"} xref: Orphanet:95488 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder @@ -379517,8 +397000,10 @@ is_a: MONDO:0015514 {source="Orphanet:95488"} ! hereditary endocrine growth dise id: MONDO:0019825 name: congenital coronary artery aneurysm def: "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." [Orphanet:95491] +subset: gard_rare {source="GARD:19273"} subset: ordo_morphological_anomaly {source="Orphanet:95491"} synonym: "congenital coronary aneurysm" EXACT [Orphanet:95491] +xref: GARD:19273 {source="Orphanet:95491"} xref: ICD10CM:Q24.5 {source="Orphanet:95491/ntbt", source="Orphanet:95491"} xref: Orphanet:95491 {source="MONDO:equivalentTo"} xref: SCTID:204378009 {source="MONDO:equivalentTo"} @@ -379539,8 +397024,10 @@ is_obsolete: true id: MONDO:0019827 name: obsolete disease associated with non-acquired combined pituitary hormone deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' +subset: gard_rare {source="GARD:19274"} subset: ordo_group_of_disorders {source="Orphanet:95495"} synonym: "secondary non-acquired combined pituitary hormone deficiency" EXACT [MONDO:cjm] +xref: GARD:19274 {source="Orphanet:95495", source="MONDO:obsoleteEquivalent"} xref: Orphanet:95495 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206775 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -379552,11 +397039,12 @@ consider: MONDO:0018762 id: MONDO:0019828 name: pituitary stalk interruption syndrome def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." [Orphanet:95496] -subset: gard_rare {source="GARD:0013209"} +subset: gard_rare {source="GARD:13209"} subset: ordo_morphological_anomaly {source="Orphanet:95496"} synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496] synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150] synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496] +xref: GARD:13209 {source="Orphanet:95496"} xref: ICD10CM:E23.6 {source="Orphanet:95496", source="Orphanet:95496/attributed", source="Orphanet:95496/ntbt"} xref: NCIT:C121150 {source="MONDO:equivalentTo"} xref: Orphanet:95496 {source="MONDO:equivalentTo"} @@ -379571,9 +397059,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13209/pituit id: MONDO:0019829 name: congenital anomaly of superior vena cava subset: disease_grouping +subset: gard_rare {source="GARD:19275"} subset: ordo_group_of_disorders {source="Orphanet:95498"} synonym: "congenital anomaly of superior caval vein" EXACT [Orphanet:95498] synonym: "congenital anomaly of the SVC" EXACT [Orphanet:95498] +xref: GARD:19275 {source="Orphanet:95498"} xref: ICD10CM:Q26.9 {source="Orphanet:95498", source="Orphanet:95498/ntbt"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:95498 {source="MONDO:equivalentTo"} @@ -379589,9 +397079,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019830 name: congenital anomaly of the inferior vena cava subset: disease_grouping +subset: gard_rare {source="GARD:19276"} subset: ordo_group_of_disorders {source="Orphanet:95499"} synonym: "congenital anomaly of the inferior caval vein" EXACT [Orphanet:95499] synonym: "congenital anomaly of the IVC" EXACT [Orphanet:95499] +xref: GARD:19276 {source="Orphanet:95499"} xref: ICD10CM:Q26.9 {source="Orphanet:95499/ntbt", source="Orphanet:95499"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:95499 {source="MONDO:equivalentTo"} @@ -379606,6 +397098,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019831 name: obsolete congenital anomaly of the coronary sinus +subset: gard_rare {source="GARD:19277"} +xref: GARD:19277 {source="MONDO:obsoleteEquivalent", source="Orphanet:95500"} xref: ICD10CM:Q21.1 {source="Orphanet:95500/ntbt", source="Orphanet:95500"} xref: Orphanet:95500 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379621,8 +397115,10 @@ name: acquired pituitary hormone deficiency def: "An instance of hypopituitarism that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] comment: Editor note: check this subset: disease_grouping +subset: gard_rare {source="GARD:19278"} subset: ordo_group_of_disorders {source="Orphanet:95502"} synonym: "acquired hypopituitarism" EXACT [MONDO:patterns/acquired] +xref: GARD:19278 {source="Orphanet:95502"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95502", source="Orphanet:95502/ntbt"} xref: Orphanet:95502 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 {source="MONDO:Redundant", source="Orphanet:95502"} ! pituitary deficiency @@ -379632,7 +397128,9 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0019833 name: obsolete pituitary hormone deficiency from tumoral origin +subset: gard_rare {source="GARD:19279"} subset: ordo_group_of_disorders {source="Orphanet:95503"} +xref: GARD:19279 {source="MONDO:obsoleteEquivalent", source="Orphanet:95503"} xref: Orphanet:95503 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206780 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} @@ -379643,7 +397141,9 @@ consider: MONDO:0015127 [Term] id: MONDO:0019834 name: obsolete pituitary hormone deficiency from meningeal origin +subset: gard_rare {source="GARD:19280"} subset: ordo_group_of_disorders {source="Orphanet:95505"} +xref: GARD:19280 {source="MONDO:obsoleteEquivalent", source="Orphanet:95505"} xref: Orphanet:95505 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -379655,9 +397155,11 @@ id: MONDO:0019835 name: primary hypophysitis def: "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." [MESH:D000069281] subset: disease_grouping +subset: gard_rare {source="GARD:19281"} subset: ordo_group_of_disorders {source="Orphanet:95506"} synonym: "autoimmune hypophysitis" EXACT [Orphanet:95506] synonym: "lymphocytic hypophysitis" EXACT [NCIT:C132055] +xref: GARD:19281 {source="Orphanet:95506"} xref: ICD10CM:E23.6 {source="Orphanet:95506", source="Orphanet:95506/ntbt"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -379674,7 +397176,9 @@ relationship: disease_has_inflammation_site UBERON:0000007 ! pituitary gland [Term] id: MONDO:0019836 name: congenital anomaly of hepatic vein +subset: gard_rare {source="GARD:19282"} subset: ordo_morphological_anomaly {source="Orphanet:95507"} +xref: GARD:19282 {source="Orphanet:95507"} xref: ICD10CM:Q26.8 {source="Orphanet:95507/ntbt", source="Orphanet:95507"} xref: Orphanet:95507 {source="MONDO:equivalentTo"} xref: UMLS:C3163825 {source="Orphanet:95507/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95507"} @@ -379690,7 +397194,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019837 name: obsolete atrial appendage anomaly +subset: gard_rare {source="GARD:19283"} synonym: "atrial auricle anomaly" EXACT [Orphanet:95510] +xref: GARD:19283 {source="MONDO:obsoleteEquivalent", source="Orphanet:95510"} xref: ICD10CM:Q20.8 {source="Orphanet:95510/ntbt", source="Orphanet:95510"} xref: Orphanet:95510 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379703,11 +397209,13 @@ is_obsolete: true id: MONDO:0019838 name: adenohypophysitis def: "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." [PMID:21592417] +subset: gard_rare {source="GARD:19284"} subset: ordo_disease {source="Orphanet:95512"} synonym: "adenohypophysis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "anterior pituitary hypophysitis" EXACT [Orphanet:95512] synonym: "inflammation of adenohypophysis" EXACT [] synonym: "lymphocytic adenohypophysitis" EXACT [PMID:21592417] +xref: GARD:19284 {source="Orphanet:95512"} xref: ICD10CM:E23.6 {source="Orphanet:95512", source="Orphanet:95512/ntbt"} xref: Orphanet:95512 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:95512"} ! primary hypophysitis @@ -379717,8 +397225,10 @@ intersection_of: disease_has_inflammation_site UBERON:0002196 ! adenohypophysis [Term] id: MONDO:0019839 name: panhypophysitis +subset: gard_rare {source="GARD:19285"} subset: ordo_disease {source="Orphanet:95513"} synonym: "Infundibulo-panhypophysitis" EXACT [Orphanet:95513] +xref: GARD:19285 {source="Orphanet:95513"} xref: ICD10CM:E23.6 {source="Orphanet:95513", source="Orphanet:95513/ntbt"} xref: Orphanet:95513 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:95513"} ! primary hypophysitis @@ -379727,7 +397237,6 @@ is_a: MONDO:0019835 {source="Orphanet:95513"} ! primary hypophysitis id: MONDO:0019840 name: acropectororenal dysplasia def: "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." [Orphanet:956] -subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:956"} synonym: "acro-pectoro-renal field defect" RELATED [GARD:0000511] synonym: "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" RELATED [GARD:0000511] @@ -379740,7 +397249,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/511/acro-pec [Term] id: MONDO:0019841 name: obsolete pituitary hormone defiency from vascular origin +subset: gard_rare {source="GARD:19286"} subset: ordo_group_of_disorders {source="Orphanet:95611"} +xref: GARD:19286 {source="MONDO:obsoleteEquivalent", source="Orphanet:95611"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="Orphanet:95611/ntbt"} xref: Orphanet:95611 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} @@ -379757,7 +397268,9 @@ replaced_by: MONDO:0006908 [Term] id: MONDO:0019843 name: obsolete pituitary hormone deficiency secondary to a granulomatous disease +subset: gard_rare {source="GARD:19288"} subset: ordo_group_of_disorders {source="Orphanet:95617"} +xref: GARD:19288 {source="MONDO:obsoleteEquivalent", source="Orphanet:95617"} xref: Orphanet:95617 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206787 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379768,6 +397281,8 @@ consider: MONDO:0015127 [Term] id: MONDO:0019844 name: obsolete pituitary hormone deficiency secondary to storage disease +subset: gard_rare {source="GARD:19289"} +xref: GARD:19289 {source="MONDO:obsoleteEquivalent", source="Orphanet:95618"} xref: Orphanet:95618 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206788 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618"} ! acquired pituitary hormone deficiency @@ -379780,7 +397295,9 @@ is_obsolete: true [Term] id: MONDO:0019845 name: iatrogenic or traumatic pituitary deficiency +subset: gard_rare {source="GARD:19290"} subset: ordo_disease {source="Orphanet:95619"} +xref: GARD:19290 {source="Orphanet:95619"} xref: ICD10CM:E23.1 {source="Orphanet:95619/ntbt", source="Orphanet:95619"} xref: Orphanet:95619 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:95619"} ! acquired pituitary hormone deficiency @@ -379789,10 +397306,12 @@ is_a: MONDO:0019832 {source="Orphanet:95619"} ! acquired pituitary hormone defic id: MONDO:0019846 name: acquired central diabetes insipidus def: "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." [Orphanet:95626] +subset: gard_rare {source="GARD:19291"} subset: ordo_clinical_subtype {source="Orphanet:95626"} synonym: "acquired CDI" EXACT [Orphanet:95626] synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired] synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626] +xref: GARD:19291 {source="Orphanet:95626"} xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"} xref: Orphanet:95626 {source="MONDO:equivalentTo"} is_a: MONDO:0015790 {source="MONDO:Redundant", source="Orphanet:95626"} ! central diabetes insipidus @@ -379813,8 +397332,10 @@ consider: MONDO:0010264 id: MONDO:0019848 name: posterior hypospadias def: "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." [Orphanet:95706] +subset: gard_rare {source="GARD:16840"} subset: ordo_morphological_anomaly {source="Orphanet:95706"} synonym: "perineal, scrotal or penoscrotal hypospadias" EXACT [Orphanet:95706] +xref: GARD:16840 {source="Orphanet:95706"} xref: ICD10CM:Q54.2 {source="Orphanet:95706/btnt", source="Orphanet:95706"} xref: ICD10CM:Q54.3 {source="Orphanet:95706/btnt", source="Orphanet:95706"} xref: Orphanet:95706 {source="MONDO:equivalentTo"} @@ -379827,7 +397348,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019849 name: isolated micropenis +subset: gard_rare {source="GARD:19292"} subset: ordo_morphological_anomaly {source="Orphanet:95707"} +xref: GARD:19292 {source="Orphanet:95707"} xref: ICD10CM:Q55.6 {source="Orphanet:95707/ntbt", source="Orphanet:95707"} xref: Orphanet:95707 {source="MONDO:equivalentTo"} xref: UMLS:C0266435 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95707"} @@ -379849,9 +397372,11 @@ id: MONDO:0019851 name: acquired primary ovarian failure def: "An instance of primary ovarian failure that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:19293"} subset: ordo_group_of_disorders {source="Orphanet:95709"} synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709] synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired] +xref: GARD:19293 {source="Orphanet:95709"} xref: ICD10CM:E28.8 {source="Orphanet:95709", source="Orphanet:95709/attributed", source="Orphanet:95709/ntbt"} xref: Orphanet:95709 {source="MONDO:equivalentTo"} xref: SCTID:717954003 {source="MONDO:equivalentTo"} @@ -379866,10 +397391,12 @@ id: MONDO:0019852 name: inherited primary ovarian failure def: "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:19294"} subset: ordo_group_of_disorders {source="Orphanet:95710"} synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary] synonym: "inherited premature ovarian failure" EXACT [OMIMPS:311360] synonym: "non-acquired premature ovarian failure" RELATED [] +xref: GARD:19294 {source="Orphanet:95710"} xref: ICD10CM:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="Orphanet:95710/attributed", source="Orphanet:95710/ntbt"} xref: OMIMPS:311360 {source="MONDO:equivalentTo"} xref: Orphanet:95710 {source="MONDO:equivalentTo"} @@ -379886,8 +397413,10 @@ id: MONDO:0019853 name: obsolete congenital hypothyroidism due to developmental anomaly def: "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:95711] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. +subset: gard_rare {source="GARD:19295"} subset: ordo_group_of_disorders {source="Orphanet:95711"} synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711] +xref: GARD:19295 {source="MONDO:obsoleteEquivalent", source="Orphanet:95711"} xref: ICD10CM:E03.1 {source="Orphanet:95711", source="Orphanet:95711/attributed", source="Orphanet:95711/ntbt"} xref: Orphanet:95711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -379899,7 +397428,9 @@ is_obsolete: true id: MONDO:0019854 name: thyroid ectopia def: "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95712] +subset: gard_rare {source="GARD:16841"} subset: ordo_morphological_anomaly {source="Orphanet:95712"} +xref: GARD:16841 {source="Orphanet:95712"} xref: ICD10CM:E03.1 {source="Orphanet:95712", source="Orphanet:95712/attributed", source="Orphanet:95712/ntbt"} xref: Orphanet:95712 {source="MONDO:equivalentTo"} xref: UMLS:C0266283 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95712"} @@ -379911,7 +397442,9 @@ property_value: confidence "0.8452812500000004" xsd:double id: MONDO:0019855 name: athyreosis def: "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95713] +subset: gard_rare {source="GARD:16842"} subset: ordo_morphological_anomaly {source="Orphanet:95713"} +xref: GARD:16842 {source="Orphanet:95713"} xref: ICD10CM:E03.1 {source="Orphanet:95713", source="Orphanet:95713/attributed", source="Orphanet:95713/ntbt"} xref: Orphanet:95713 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone @@ -379923,7 +397456,9 @@ id: MONDO:0019856 name: obsolete primary congenital hypothyroidism without thyroid developmental anomaly def: "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." [Orphanet:95714] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary congenital hypothyroidism' +subset: gard_rare {source="GARD:19296"} subset: ordo_group_of_disorders {source="Orphanet:95714"} +xref: GARD:19296 {source="MONDO:obsoleteEquivalent", source="Orphanet:95714"} xref: ICD10CM:E03.0 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} xref: ICD10CM:E03.1 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} xref: Orphanet:95714 {source="MONDO:obsoleteEquivalent"} @@ -379937,7 +397472,9 @@ consider: MONDO:0016409 id: MONDO:0019857 name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies def: "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." [Orphanet:95715] +subset: gard_rare {source="GARD:19297"} subset: ordo_disease {source="Orphanet:95715"} +xref: GARD:19297 {source="Orphanet:95715"} xref: ICD10CM:P72.2 {source="Orphanet:95715", source="Orphanet:95715/ntbt"} xref: Orphanet:95715 {source="MONDO:equivalentTo"} xref: SCTID:717333002 {source="MONDO:equivalentTo"} @@ -379950,7 +397487,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019858 name: idiopathic congenital hypothyroidism def: "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." [Orphanet:95717] +subset: gard_rare {source="GARD:19298"} subset: ordo_disease {source="Orphanet:95717"} +xref: GARD:19298 {source="Orphanet:95717"} xref: ICD10CM:E03.1 {source="Orphanet:95717/attributed", source="Orphanet:95717/ntbt", source="Orphanet:95717"} xref: Orphanet:95717 {source="MONDO:equivalentTo"} xref: SCTID:717334008 {source="MONDO:equivalentTo"} @@ -379964,7 +397503,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019859 name: obsolete congenital thyroid malformation without hypothyroidism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: thyroid gland disease' +subset: gard_rare {source="GARD:19299"} subset: ordo_group_of_disorders {source="Orphanet:95718"} +xref: GARD:19299 {source="MONDO:obsoleteEquivalent", source="Orphanet:95718"} xref: ICD10CM:Q89.2 {source="Orphanet:95718/ntbt", source="Orphanet:95718"} xref: Orphanet:95718 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -379977,7 +397518,9 @@ consider: MONDO:0003240 id: MONDO:0019860 name: thyroid hemiagenesis def: "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95719] +subset: gard_rare {source="GARD:16844"} subset: ordo_morphological_anomaly {source="Orphanet:95719"} +xref: GARD:16844 {source="Orphanet:95719"} xref: ICD10CM:E03.1 {source="Orphanet:95719/attributed", source="Orphanet:95719/ntbt", source="Orphanet:95719"} xref: Orphanet:95719 {source="MONDO:equivalentTo"} xref: SCTID:715734006 {source="MONDO:equivalentTo"} @@ -379992,7 +397535,9 @@ property_value: confidence "0.8452812500000004" xsd:double id: MONDO:0019861 name: thyroid hypoplasia def: "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95720] +subset: gard_rare {source="GARD:8426"} subset: ordo_morphological_anomaly {source="Orphanet:95720"} +xref: GARD:8426 {source="Orphanet:95720"} xref: ICD10CM:E03.1 {source="Orphanet:95720/attributed", source="Orphanet:95720/ntbt", source="Orphanet:95720"} xref: MedDRA:10065938 {source="Orphanet:95720", source="Orphanet:95720/e"} xref: Orphanet:95720 {source="MONDO:equivalentTo"} @@ -380007,11 +397552,12 @@ property_value: confidence "0.8452812500000004" xsd:double id: MONDO:0019862 name: levocardia def: "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." [NCIT:C111647] -subset: gard_rare +subset: gard_rare {source="GARD:12032"} subset: ordo_morphological_anomaly {source="Orphanet:95854"} synonym: "Isolated levocardia with situs inversus" NARROW [GARD:0012032] synonym: "levocardia-situs inversus" EXACT [Orphanet:95854] synonym: "Situs inversus with levocardia" NARROW [GARD:0012032] +xref: GARD:12032 {source="Orphanet:95854"} xref: ICD10CM:Q24.1 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} xref: MedDRA:10071015 {source="Orphanet:95854", source="Orphanet:95854/e"} xref: MESH:D007979 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} @@ -380033,10 +397579,11 @@ replaced_by: MONDO:0011812 id: MONDO:0019864 name: tetrasomy 21 def: "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." [Orphanet:96055] -subset: gard_rare {source="GARD:0012480"} +subset: gard_rare {source="GARD:12480"} subset: ordo_malformation_syndrome {source="Orphanet:96055"} synonym: "Isochromosome 21" EXACT [Orphanet:96055] synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055] +xref: GARD:12480 {source="Orphanet:96055"} xref: ICD10CM:Q99.8 {source="Orphanet:96055/attributed", source="Orphanet:96055/ntbt", source="Orphanet:96055"} xref: Orphanet:96055 {source="MONDO:equivalentTo"} xref: SCTID:764690001 {source="MONDO:equivalentTo"} @@ -380050,10 +397597,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12480/tetras id: MONDO:0019865 name: mosaic trisomy 4 def: "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." [Orphanet:96059] +subset: gard_rare {source="GARD:19300"} subset: ordo_malformation_syndrome {source="Orphanet:96059"} synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059] synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059] synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059] +xref: GARD:19300 {source="Orphanet:96059"} xref: ICD10CM:Q92.1 {source="Orphanet:96059", source="Orphanet:96059/attributed", source="Orphanet:96059/ntbt"} xref: Orphanet:96059 {source="MONDO:equivalentTo"} xref: SCTID:764628000 {source="MONDO:equivalentTo"} @@ -380066,10 +397615,12 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0019866 name: mosaic trisomy 5 def: "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." [Orphanet:96060] +subset: gard_rare {source="GARD:19301"} subset: ordo_malformation_syndrome {source="Orphanet:96060"} synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060] synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060] synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060] +xref: GARD:19301 {source="Orphanet:96060"} xref: ICD10CM:Q92.1 {source="Orphanet:96060", source="Orphanet:96060/attributed", source="Orphanet:96060/ntbt"} xref: MESH:C537762 {source="MONDO:equivalentTo"} xref: Orphanet:96060 {source="MONDO:equivalentTo"} @@ -380083,12 +397634,13 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0019867 name: mosaic trisomy 8 def: "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." [Orphanet:96061] -subset: gard_rare {source="GARD:0005359"} +subset: gard_rare {source="GARD:5359"} subset: ordo_malformation_syndrome {source="Orphanet:96061"} synonym: "Mosaic trisomy chromosome 8" RELATED [GARD:0005359] synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061] synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359] synonym: "Warkany syndrome" EXACT [Orphanet:96061] +xref: GARD:5359 {source="Orphanet:96061"} xref: ICD10CM:Q92.1 {source="Orphanet:96061/attributed", source="Orphanet:96061/ntbt", source="Orphanet:96061"} xref: MedDRA:10053916 {source="Orphanet:96061/e", source="Orphanet:96061"} xref: MESH:C537940 {source="Orphanet:96061/e", source="MONDO:equivalentTo", source="Orphanet:96061"} @@ -380106,7 +397658,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5359/mosaic- id: MONDO:0019868 name: mosaic trisomy 10 def: "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." [Orphanet:96063] -subset: gard_rare +subset: gard_rare {source="GARD:19302"} subset: ordo_malformation_syndrome {source="Orphanet:96063"} synonym: "chromosome 10, uniparental disomy" RELATED [GARD:0005406] synonym: "mosaic trisomy 10" EXACT [GARD:0005406] @@ -380114,6 +397666,7 @@ synonym: "Mosaic trisomy chromosome 10" EXACT [Orphanet:96063] synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063] synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063] synonym: "uniparental disomy of 10" RELATED [GARD:0005406] +xref: GARD:19302 {source="Orphanet:96063"} xref: ICD10CM:Q92.1 {source="Orphanet:96063/attributed", source="Orphanet:96063/ntbt", source="Orphanet:96063"} xref: MESH:C538292 {source="MONDO:equivalentTo"} xref: Orphanet:96063 {source="MONDO:equivalentTo"} @@ -380129,11 +397682,12 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0019869 name: mosaic trisomy 22 def: "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." [https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22] -subset: gard_rare {source="GARD:0006085"} +subset: gard_rare {source="GARD:6085"} subset: ordo_malformation_syndrome {source="Orphanet:96068"} synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085] synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068] synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085] +xref: GARD:6085 {source="Orphanet:96068"} xref: ICD10CM:Q92.1 {source="Orphanet:96068", source="Orphanet:96068/attributed", source="Orphanet:96068/ntbt"} xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="Orphanet:96068/e"} xref: Orphanet:96068 {source="MONDO:equivalentTo"} @@ -380151,11 +397705,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6085/mosaic- id: MONDO:0019870 name: distal trisomy 1p36 def: "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." [Orphanet:96069] +subset: gard_rare {source="GARD:19303"} subset: ordo_malformation_syndrome {source="Orphanet:96069"} synonym: "distal duplication 1p36" EXACT [Orphanet:96069] synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7, Orphanet:96069] synonym: "telomeric duplication 1p36" EXACT [Orphanet:96069] synonym: "trisomy 1pter" EXACT [Orphanet:96069] +xref: GARD:19303 {source="Orphanet:96069"} xref: Orphanet:96069 {source="MONDO:equivalentTo"} xref: SCTID:766053003 {source="MONDO:equivalentTo"} xref: UMLS:CN244049 {source="MONDO:equivalentTo"} @@ -380168,11 +397724,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019871 name: distal trisomy 2p def: "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." [Orphanet:96070] +subset: gard_rare {source="GARD:19304"} subset: ordo_malformation_syndrome {source="Orphanet:96070"} synonym: "distal duplication 2p" EXACT [Orphanet:96070] synonym: "distal trisomy type 2p" EXACT [MONDORULE:4, Orphanet:96070] synonym: "telomeric duplication 2p" EXACT [Orphanet:96070] synonym: "trisomy 2pter" EXACT [Orphanet:96070] +xref: GARD:19304 {source="Orphanet:96070"} xref: Orphanet:96070 {source="MONDO:equivalentTo"} xref: SCTID:764518004 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380185,11 +397743,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019872 name: distal trisomy 3p def: "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." [Orphanet:96071] +subset: gard_rare {source="GARD:19305"} subset: ordo_malformation_syndrome {source="Orphanet:96071"} synonym: "distal duplication 3p" EXACT [Orphanet:96071] synonym: "distal trisomy type 3p" EXACT [MONDORULE:4, Orphanet:96071] synonym: "telomeric duplication 3p" EXACT [Orphanet:96071] synonym: "trisomy 3pter" EXACT [Orphanet:96071] +xref: GARD:19305 {source="Orphanet:96071"} xref: Orphanet:96071 {source="MONDO:equivalentTo"} xref: SCTID:764519007 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380201,11 +397761,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019873 name: 4p16.3 microduplication syndrome def: "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." [Orphanet:96072] +subset: gard_rare {source="GARD:19306"} subset: ordo_malformation_syndrome {source="Orphanet:96072"} synonym: "distal duplication 4p" EXACT [Orphanet:96072] synonym: "distal trisomy 4p" EXACT [Orphanet:96072] synonym: "telomeric duplication 4p" EXACT [Orphanet:96072] synonym: "trisomy 4pter" EXACT [Orphanet:96072] +xref: GARD:19306 {source="Orphanet:96072"} xref: Orphanet:96072 {source="MONDO:equivalentTo"} xref: SCTID:726706008 {source="MONDO:equivalentTo"} xref: UMLS:C4512053 {source="MONDO:equivalentTo"} @@ -380220,11 +397782,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019874 name: distal trisomy 7p def: "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." [Orphanet:96074] +subset: gard_rare {source="GARD:19307"} subset: ordo_malformation_syndrome {source="Orphanet:96074"} synonym: "distal duplication 7p" EXACT [Orphanet:96074] synonym: "distal trisomy type 7p" EXACT [MONDORULE:4, Orphanet:96074] synonym: "telomeric duplication 7p" EXACT [Orphanet:96074] synonym: "trisomy 7pter" EXACT [Orphanet:96074] +xref: GARD:19307 {source="Orphanet:96074"} xref: Orphanet:96074 {source="MONDO:equivalentTo"} xref: SCTID:763276000 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380235,7 +397799,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019875 name: Beckwith-Wiedemann syndrome due to 11p15 microduplication +subset: gard_rare {source="GARD:19308"} subset: ordo_etiological_subtype {source="Orphanet:96076"} +xref: GARD:19308 {source="Orphanet:96076"} xref: ICD10CM:Q87.3 {source="Orphanet:96076/attributed", source="Orphanet:96076/ntbt", source="Orphanet:96076"} xref: Orphanet:96076 {source="MONDO:equivalentTo"} xref: UMLS:CN206810 {source="MONDO:equivalentTo"} @@ -380249,9 +397815,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019876 name: 8p inverted duplication/deletion syndrome def: "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." [Orphanet:96092] +subset: gard_rare {source="GARD:19309"} subset: ordo_malformation_syndrome {source="Orphanet:96092"} synonym: "Invdupdel(8p)" EXACT [Orphanet:96092] synonym: "inverted 8p duplication/deletion syndrome" EXACT [Orphanet:96092] +xref: GARD:19309 {source="Orphanet:96092"} xref: ICD10CM:Q99.8 {source="Orphanet:96092", source="Orphanet:96092/attributed", source="Orphanet:96092/ntbt"} xref: Orphanet:96092 {source="MONDO:equivalentTo"} xref: SCTID:718188007 {source="MONDO:equivalentTo"} @@ -380264,11 +397832,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019877 name: distal trisomy 2q def: "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." [Orphanet:96094] +subset: gard_rare {source="GARD:19310"} subset: ordo_malformation_syndrome {source="Orphanet:96094"} synonym: "distal duplication 2q" EXACT [Orphanet:96094] synonym: "distal trisomy type 2q" EXACT [MONDORULE:4, Orphanet:96094] synonym: "telomeric duplication 2q" EXACT [Orphanet:96094] synonym: "trisomy 2qter" EXACT [Orphanet:96094] +xref: GARD:19310 {source="Orphanet:96094"} xref: Orphanet:96094 {source="MONDO:equivalentTo"} xref: SCTID:763272003 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380280,11 +397850,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019878 name: 3q26 microduplication syndrome def: "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." [Orphanet:96095] +subset: gard_rare {source="GARD:19311"} subset: ordo_malformation_syndrome {source="Orphanet:96095"} synonym: "Cornelia de Lange-like syndrome" EXACT [Orphanet:96095] synonym: "dup(3)(q26)" EXACT [Orphanet:96095] synonym: "dup(3q) syndrome" EXACT [Orphanet:96095] synonym: "trisomy 3q26" EXACT [Orphanet:96095] +xref: GARD:19311 {source="Orphanet:96095"} xref: Orphanet:96095 {source="MONDO:equivalentTo"} xref: UMLS:CN206814 {source="MONDO:equivalentTo"} is_a: MONDO:0016954 {source="Orphanet:96095"} ! partial duplication of the long arm of chromosome 3 @@ -380297,11 +397869,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019879 name: distal trisomy 4q def: "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." [Orphanet:96096] +subset: gard_rare {source="GARD:19312"} subset: ordo_malformation_syndrome {source="Orphanet:96096"} synonym: "distal duplication 4q" EXACT [Orphanet:96096] synonym: "distal trisomy type 4q" EXACT [MONDORULE:4, Orphanet:96096] synonym: "telomeric duplication 4q" EXACT [Orphanet:96096] synonym: "trisomy 4qter" EXACT [Orphanet:96096] +xref: GARD:19312 {source="Orphanet:96096"} xref: Orphanet:96096 {source="MONDO:equivalentTo"} xref: SCTID:763273008 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380313,11 +397887,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019880 name: distal trisomy 5q def: "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." [Orphanet:96097] +subset: gard_rare {source="GARD:19313"} subset: ordo_malformation_syndrome {source="Orphanet:96097"} synonym: "distal duplication 5q" EXACT [Orphanet:96097] synonym: "distal trisomy type 5q" EXACT [MONDORULE:4, Orphanet:96097] synonym: "telomeric duplication 5q" EXACT [Orphanet:96097] synonym: "trisomy 5qter" EXACT [Orphanet:96097] +xref: GARD:19313 {source="Orphanet:96097"} xref: Orphanet:96097 {source="MONDO:equivalentTo"} xref: SCTID:763274002 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380329,11 +397905,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019881 name: distal trisomy 6q def: "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." [Orphanet:96098] +subset: gard_rare {source="GARD:19314"} subset: ordo_malformation_syndrome {source="Orphanet:96098"} synonym: "distal duplication 6q" EXACT [Orphanet:96098] synonym: "distal trisomy type 6q" EXACT [MONDORULE:4, Orphanet:96098] synonym: "telomeric duplication 6q" EXACT [Orphanet:96098] synonym: "trisomy 6qter" EXACT [Orphanet:96098] +xref: GARD:19314 {source="Orphanet:96098"} xref: MESH:C537810 {source="MONDO:equivalentTo"} xref: Orphanet:96098 {source="MONDO:equivalentTo"} xref: SCTID:763275001 {source="MONDO:equivalentTo"} @@ -380347,11 +397925,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019882 name: distal trisomy 8q def: "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." [Orphanet:96100] +subset: gard_rare {source="GARD:19315"} subset: ordo_malformation_syndrome {source="Orphanet:96100"} synonym: "distal duplication 8q" EXACT [Orphanet:96100] synonym: "distal trisomy type 8q" EXACT [MONDORULE:4, Orphanet:96100] synonym: "telomeric duplication 8q" EXACT [Orphanet:96100] synonym: "trisomy 8qter" EXACT [Orphanet:96100] +xref: GARD:19315 {source="Orphanet:96100"} xref: Orphanet:96100 {source="MONDO:equivalentTo"} xref: SCTID:763277009 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380363,11 +397943,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019883 name: distal trisomy 9q def: "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." [Orphanet:96101] +subset: gard_rare {source="GARD:19316"} subset: ordo_malformation_syndrome {source="Orphanet:96101"} synonym: "distal duplication 9q" EXACT [Orphanet:96101] synonym: "distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96101] synonym: "telomeric duplication 9q" EXACT [Orphanet:96101] synonym: "trisomy 9qter" EXACT [Orphanet:96101] +xref: GARD:19316 {source="Orphanet:96101"} xref: Orphanet:96101 {source="MONDO:equivalentTo"} xref: SCTID:764520001 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380379,11 +397961,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019884 name: distal trisomy 10q def: "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." [Orphanet:96102] +subset: gard_rare {source="GARD:19317"} subset: ordo_malformation_syndrome {source="Orphanet:96102"} synonym: "distal duplication 10q" EXACT [Orphanet:96102] synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102] synonym: "telomeric duplication 10q" EXACT [Orphanet:96102] synonym: "trisomy 10qter" EXACT [Orphanet:96102] +xref: GARD:19317 {source="Orphanet:96102"} xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="Orphanet:96102/e"} xref: Orphanet:96102 {source="MONDO:equivalentTo"} xref: SCTID:718689000 {source="MONDO:equivalentTo"} @@ -380399,11 +397983,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019885 name: distal trisomy 11q def: "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." [Orphanet:96103] +subset: gard_rare {source="GARD:19318"} subset: ordo_malformation_syndrome {source="Orphanet:96103"} synonym: "distal duplication 11q" EXACT [Orphanet:96103] synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103] synonym: "telomeric duplication 11q" EXACT [Orphanet:96103] synonym: "trisomy 11qter" EXACT [Orphanet:96103] +xref: GARD:19318 {source="Orphanet:96103"} xref: MESH:C538294 {source="Orphanet:96103", source="MONDO:equivalentTo", source="Orphanet:96103/e"} xref: Orphanet:96103 {source="MONDO:equivalentTo"} xref: SCTID:764447009 {source="MONDO:equivalentTo"} @@ -380418,11 +398004,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019886 name: distal trisomy 13q def: "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." [Orphanet:96105] +subset: gard_rare {source="GARD:19319"} subset: ordo_malformation_syndrome {source="Orphanet:96105"} synonym: "distal duplication 13q" EXACT [Orphanet:96105] synonym: "distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:96105] synonym: "telomeric duplication 13q" EXACT [Orphanet:96105] synonym: "trisomy 13qter" EXACT [Orphanet:96105] +xref: GARD:19319 {source="Orphanet:96105"} xref: Orphanet:96105 {source="MONDO:equivalentTo"} xref: SCTID:764454003 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380434,11 +398022,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019887 name: distal trisomy 16q def: "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." [Orphanet:96106] +subset: gard_rare {source="GARD:19320"} subset: ordo_malformation_syndrome {source="Orphanet:96106"} synonym: "distal duplication 16q" EXACT [Orphanet:96106] synonym: "distal trisomy type 16q" EXACT [MONDORULE:4, Orphanet:96106] synonym: "telomeric duplication 16q" EXACT [Orphanet:96106] synonym: "trisomy 16qter" EXACT [Orphanet:96106] +xref: GARD:19320 {source="Orphanet:96106"} xref: Orphanet:96106 {source="MONDO:equivalentTo"} xref: SCTID:764459008 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380450,11 +398040,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019888 name: distal trisomy 20q def: "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." [Orphanet:96107] +subset: gard_rare {source="GARD:19321"} subset: ordo_malformation_syndrome {source="Orphanet:96107"} synonym: "distal duplication 20q" EXACT [Orphanet:96107] synonym: "distal trisomy type 20q" EXACT [MONDORULE:4, Orphanet:96107] synonym: "telomeric duplication 20q" EXACT [Orphanet:96107] synonym: "trisomy 20qter" EXACT [Orphanet:96107] +xref: GARD:19321 {source="Orphanet:96107"} xref: Orphanet:96107 {source="MONDO:equivalentTo"} xref: SCTID:764500002 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380466,11 +398058,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019889 name: distal trisomy 22q def: "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." [Orphanet:96109] +subset: gard_rare {source="GARD:19322"} subset: ordo_malformation_syndrome {source="Orphanet:96109"} synonym: "distal duplication 22q" EXACT [Orphanet:96109] synonym: "distal trisomy type 22q" EXACT [MONDORULE:4, Orphanet:96109] synonym: "telomeric duplication 22q" EXACT [Orphanet:96109] synonym: "trisomy 22qter" EXACT [Orphanet:96109] +xref: GARD:19322 {source="Orphanet:96109"} xref: Orphanet:96109 {source="MONDO:equivalentTo"} xref: SCTID:764512003 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380482,10 +398076,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019890 name: non-distal trisomy 9q def: "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." [Orphanet:96112] +subset: gard_rare {source="GARD:19323"} subset: ordo_malformation_syndrome {source="Orphanet:96112"} synonym: "non-distal duplication 9q" EXACT [Orphanet:96112] synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96112] synonym: "non-telomeric trisomy 9q" EXACT [Orphanet:96112] +xref: GARD:19323 {source="Orphanet:96112"} xref: Orphanet:96112 {source="MONDO:equivalentTo"} xref: SCTID:764997000 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -380496,10 +398092,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019891 name: monosomy 22 +subset: gard_rare {source="GARD:19324"} subset: ordo_malformation_syndrome {source="Orphanet:96123"} synonym: "Del(22)" EXACT [Orphanet:96123] synonym: "deletion 22" EXACT [Orphanet:96123] synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123] +xref: GARD:19324 {source="Orphanet:96123"} xref: ICD10CM:Q93.0 {source="Orphanet:96123", source="Orphanet:96123/attributed", source="Orphanet:96123/ntbt"} xref: NCIT:C36461 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: Orphanet:96123 {source="MONDO:equivalentTo"} @@ -380510,11 +398108,13 @@ intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (H [Term] id: MONDO:0019892 name: distal monosomy 7p +subset: gard_rare {source="GARD:19325"} subset: ordo_malformation_syndrome {source="Orphanet:96126"} synonym: "distal deletion 7p" EXACT [Orphanet:96126] synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126] synonym: "monosomy 7pter" EXACT [Orphanet:96126] synonym: "telomeric deletion 7p" EXACT [Orphanet:96126] +xref: GARD:19325 {source="Orphanet:96126"} xref: ICD10CM:Q93.5 {source="Orphanet:96126/attributed", source="Orphanet:96126/ntbt", source="Orphanet:96126"} xref: Orphanet:96126 {source="MONDO:equivalentTo"} is_a: MONDO:0016889 {source="Orphanet:96126"} ! partial deletion of the short arm of chromosome 7 @@ -380526,9 +398126,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019893 name: distal monosomy 19p13.3 def: "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." [Orphanet:96129] +subset: gard_rare {source="GARD:19326"} subset: ordo_malformation_syndrome {source="Orphanet:96129"} synonym: "distal deletion 19p" EXACT [Orphanet:96129] synonym: "telomeric deletion 19p" EXACT [Orphanet:96129] +xref: GARD:19326 {source="Orphanet:96129"} xref: ICD10CM:Q93.5 {source="Orphanet:96129", source="Orphanet:96129/attributed", source="Orphanet:96129/ntbt"} xref: Orphanet:96129 {source="MONDO:equivalentTo"} is_a: MONDO:0016897 {source="Orphanet:96129"} ! partial deletion of the short arm of chromosome 19 @@ -380551,11 +398153,13 @@ consider: MONDO:0016889 [Term] id: MONDO:0019895 name: distal monosomy 4q +subset: gard_rare {source="GARD:19327"} subset: ordo_malformation_syndrome {source="Orphanet:96145"} synonym: "distal deletion 4q" EXACT [Orphanet:96145] synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145] synonym: "monosomy 4qter" EXACT [Orphanet:96145] synonym: "telomeric deletion 4q" EXACT [Orphanet:96145] +xref: GARD:19327 {source="Orphanet:96145"} xref: ICD10CM:Q93.5 {source="Orphanet:96145", source="Orphanet:96145/attributed", source="Orphanet:96145/ntbt"} xref: Orphanet:96145 {source="MONDO:equivalentTo"} is_a: MONDO:0016903 {source="Orphanet:96145"} ! partial deletion of the long arm of chromosome 4 @@ -380566,6 +398170,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019896 name: Kleefstra syndrome due to 9q34 microdeletion +subset: gard_rare {source="GARD:16846"} subset: ordo_etiological_subtype {source="Orphanet:96147"} synonym: "9q subtelomeric deletion syndrome" EXACT [DECIPHER:52, Orphanet:96147] synonym: "9qSTDS" EXACT [Orphanet:96147] @@ -380573,6 +398178,7 @@ synonym: "Kleefstra syndrome due to 9q subtelomeric deletion" EXACT [Orphanet:96 synonym: "Kleefstra syndrome due to del(9)(q34)" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to monosomy 9q34" EXACT [Orphanet:96147] xref: DECIPHER:52 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} +xref: GARD:16846 {source="Orphanet:96147"} xref: ICD10CM:Q87.8 {source="Orphanet:96147", source="Orphanet:96147/attributed", source="Orphanet:96147/ntbt"} xref: Orphanet:96147 {source="MONDO:equivalentTo"} xref: UMLS:C0795833 {source="Orphanet:96147"} @@ -380590,11 +398196,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019897 name: distal monosomy 12q +subset: gard_rare {source="GARD:19328"} subset: ordo_malformation_syndrome {source="Orphanet:96149"} synonym: "distal deletion 12q" EXACT [Orphanet:96149] synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149] synonym: "monosomy 12qter" EXACT [Orphanet:96149] synonym: "telomeric deletion 12q" EXACT [Orphanet:96149] +xref: GARD:19328 {source="Orphanet:96149"} xref: ICD10CM:Q93.5 {source="Orphanet:96149/attributed", source="Orphanet:96149/ntbt", source="Orphanet:96149"} xref: Orphanet:96149 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96149"} ! partial deletion of the long arm of chromosome 12 @@ -380606,10 +398214,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019898 name: distal monosomy 14q def: "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." [Orphanet:96150] +subset: gard_rare {source="GARD:19329"} subset: ordo_malformation_syndrome {source="Orphanet:96150"} synonym: "distal deletion 14q" EXACT [Orphanet:96150] synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150] synonym: "telomeric deletion 14q" EXACT [Orphanet:96150] +xref: GARD:19329 {source="Orphanet:96150"} xref: ICD10CM:Q93.5 {source="Orphanet:96150", source="Orphanet:96150/attributed", source="Orphanet:96150/ntbt"} xref: Orphanet:96150 {source="MONDO:equivalentTo"} is_a: MONDO:0016912 {source="Orphanet:96150"} ! partial deletion of the long arm of chromosome 14 @@ -380635,10 +398245,12 @@ consider: MONDO:0016843 [Term] id: MONDO:0019900 name: non-distal monosomy 12q +subset: gard_rare {source="GARD:19330"} subset: ordo_malformation_syndrome {source="Orphanet:96160"} synonym: "non-distal deletion 12q" EXACT [Orphanet:96160] synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160] synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160] +xref: GARD:19330 {source="Orphanet:96160"} xref: ICD10CM:Q93.5 {source="Orphanet:96160/attributed", source="Orphanet:96160/ntbt", source="Orphanet:96160"} xref: Orphanet:96160 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96160"} ! partial deletion of the long arm of chromosome 12 @@ -380664,11 +398276,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019902 name: monosomy 13q34 def: "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." [Orphanet:96168] +subset: gard_rare {source="GARD:16847"} subset: ordo_malformation_syndrome {source="Orphanet:96168"} synonym: "Del(13)(q34)" EXACT [Orphanet:96168] synonym: "distal deletion 13q34" EXACT [Orphanet:96168] synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168] synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168] +xref: GARD:16847 {source="Orphanet:96168"} xref: ICD10CM:Q93.5 {source="Orphanet:96168/attributed", source="Orphanet:96168/ntbt", source="Orphanet:96168"} xref: Orphanet:96168 {source="MONDO:equivalentTo"} xref: SCTID:766716004 {source="MONDO:equivalentTo"} @@ -380684,7 +398298,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019903 name: ring chromosome 2 def: "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." [Orphanet:96171] -subset: gard_rare {source="GARD:0010837"} +subset: gard_rare {source="GARD:10837"} subset: ordo_malformation_syndrome {source="Orphanet:96171"} synonym: "chromosome 2 ring" RELATED [GARD:0010837] synonym: "R2" RELATED ABBREVIATION [GARD:0010837] @@ -380692,6 +398306,7 @@ synonym: "Ring 2" RELATED [GARD:0010837] synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171] synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171] synonym: "rose cluster 2" EXACT [NCIT:C121981] +xref: GARD:10837 {source="Orphanet:96171"} xref: ICD10CM:Q93.2 {source="Orphanet:96171/attributed", source="Orphanet:96171/ntbt", source="Orphanet:96171"} xref: NCIT:C121981 {source="MONDO:equivalentTo"} xref: Orphanet:96171 {source="MONDO:equivalentTo"} @@ -380705,7 +398320,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10837/ring-c id: MONDO:0019904 name: ring chromosome 3 def: "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." [Orphanet:96172] -subset: gard_rare {source="GARD:0010839"} +subset: gard_rare {source="GARD:10839"} subset: ordo_malformation_syndrome {source="Orphanet:96172"} synonym: "chromosome 3 ring" RELATED [GARD:0010839] synonym: "R3" RELATED ABBREVIATION [GARD:0010839] @@ -380713,6 +398328,7 @@ synonym: "Ring 3" RELATED [GARD:0010839] synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172] synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172] synonym: "rose cluster 3" EXACT [NCIT:C121982] +xref: GARD:10839 {source="Orphanet:96172"} xref: ICD10CM:Q93.2 {source="Orphanet:96172", source="Orphanet:96172/attributed", source="Orphanet:96172/ntbt"} xref: NCIT:C121982 {source="MONDO:equivalentTo"} xref: Orphanet:96172 {source="MONDO:equivalentTo"} @@ -380726,13 +398342,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10839/ring-c id: MONDO:0019905 name: ring chromosome 9 def: "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." [Orphanet:96173] -subset: gard_rare {source="GARD:0001348"} +subset: gard_rare {source="GARD:1348"} subset: ordo_malformation_syndrome {source="Orphanet:96173"} synonym: "chromosome 9 ring" RELATED [GARD:0001348] synonym: "r9" RELATED [GARD:0001348] synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173] synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173] synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173] +xref: GARD:1348 {source="Orphanet:96173"} xref: ICD10CM:Q93.2 {source="Orphanet:96173/attributed", source="Orphanet:96173/ntbt", source="Orphanet:96173"} xref: MESH:C538022 {source="Orphanet:96173/e", source="MONDO:equivalentTo", source="Orphanet:96173"} xref: Orphanet:96173 {source="MONDO:equivalentTo"} @@ -380748,7 +398365,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1348/ring-ch id: MONDO:0019906 name: ring chromosome 11 def: "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported." [Orphanet:96175] -subset: gard_rare {source="GARD:0010846"} +subset: gard_rare {source="GARD:10846"} subset: ordo_malformation_syndrome {source="Orphanet:96175"} synonym: "chromosome 11 ring" RELATED [GARD:0010846] synonym: "r(11) syndrome" EXACT [Orphanet:96175] @@ -380758,6 +398375,7 @@ synonym: "Ring 11" RELATED [GARD:0010846] synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175] synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175] xref: EFO:0002849 {source="MONDO:equivalentTo"} +xref: GARD:10846 {source="Orphanet:96175"} xref: ICD10CM:Q93.2 {source="Orphanet:96175/attributed", source="Orphanet:96175/ntbt", source="Orphanet:96175"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:96175 {source="MONDO:equivalentTo"} @@ -380771,13 +398389,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10846/ring-c id: MONDO:0019907 name: ring chromosome 13 def: "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." [Orphanet:96176] -subset: gard_rare {source="GARD:0006069"} +subset: gard_rare {source="GARD:6069"} subset: ordo_malformation_syndrome {source="Orphanet:96176"} synonym: "chromosome 13 ring" RELATED [GARD:0006069] synonym: "R13" RELATED ABBREVIATION [GARD:0006069] synonym: "Ring 13" RELATED [GARD:0006069] synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176] synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176] +xref: GARD:6069 {source="Orphanet:96176"} xref: ICD10CM:Q93.2 {source="Orphanet:96176/attributed", source="Orphanet:96176/ntbt", source="Orphanet:96176"} xref: MESH:C538303 {source="Orphanet:96176/e", source="MONDO:equivalentTo", source="Orphanet:96176"} xref: Orphanet:96176 {source="MONDO:equivalentTo"} @@ -380793,13 +398412,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6069/ring-ch id: MONDO:0019908 name: ring chromosome 15 def: "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." [https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15] -subset: gard_rare {source="GARD:0001328"} +subset: gard_rare {source="GARD:1328"} subset: ordo_malformation_syndrome {source="Orphanet:96177"} synonym: "chromosome 15 ring" RELATED [GARD:0001328] synonym: "R15" RELATED ABBREVIATION [GARD:0001328] synonym: "Ring 15" RELATED [GARD:0001328] synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177] synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177] +xref: GARD:1328 {source="Orphanet:96177"} xref: ICD10CM:Q93.2 {source="Orphanet:96177", source="Orphanet:96177/attributed", source="Orphanet:96177/ntbt"} xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="Orphanet:96177/e"} xref: Orphanet:96177 {source="MONDO:equivalentTo"} @@ -380814,13 +398434,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1328/ring-ch id: MONDO:0019909 name: ring chromosome 16 def: "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." [https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16] -subset: gard_rare {source="GARD:0010855"} +subset: gard_rare {source="GARD:10855"} subset: ordo_malformation_syndrome {source="Orphanet:96178"} synonym: "chromosome 16 ring" RELATED [GARD:0010855] synonym: "R16" RELATED ABBREVIATION [GARD:0010855] synonym: "Ring 16" RELATED [GARD:0010855] synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178] synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178] +xref: GARD:10855 {source="Orphanet:96178"} xref: ICD10CM:Q93.2 {source="Orphanet:96178", source="Orphanet:96178/attributed", source="Orphanet:96178/ntbt"} xref: Orphanet:96178 {source="MONDO:equivalentTo"} xref: SCTID:763406004 {source="MONDO:equivalentTo"} @@ -380832,9 +398453,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10855/ring-c id: MONDO:0019910 name: maternal uniparental disomy of chromosome 2 def: "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96179] +subset: gard_rare {source="GARD:19331"} subset: ordo_malformation_syndrome {source="Orphanet:96179"} synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179] synonym: "UPD(2)mat" EXACT [Orphanet:96179] +xref: GARD:19331 {source="Orphanet:96179"} xref: ICD10CM:Q99.8 {source="Orphanet:96179/attributed", source="Orphanet:96179/ntbt", source="Orphanet:96179"} xref: Orphanet:96179 {source="MONDO:equivalentTo"} xref: SCTID:766237006 {source="MONDO:equivalentTo"} @@ -380845,9 +398468,11 @@ relationship: disease_arises_from_structure CHR:9606-chr2 {source="https://orcid id: MONDO:0019911 name: maternal uniparental disomy of chromosome 4 def: "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96180] +subset: gard_rare {source="GARD:19332"} subset: ordo_malformation_syndrome {source="Orphanet:96180"} synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180] synonym: "UPD(4)mat" EXACT [Orphanet:96180] +xref: GARD:19332 {source="Orphanet:96180"} xref: ICD10CM:Q99.8 {source="Orphanet:96180", source="Orphanet:96180/attributed", source="Orphanet:96180/ntbt"} xref: Orphanet:96180 {source="MONDO:equivalentTo"} xref: SCTID:766238001 {source="MONDO:equivalentTo"} @@ -380858,9 +398483,11 @@ relationship: disease_arises_from_structure CHR:9606-chr4 {source="https://orcid id: MONDO:0019912 name: maternal uniparental disomy of chromosome 6 def: "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." [Orphanet:96181] +subset: gard_rare {source="GARD:19333"} subset: ordo_malformation_syndrome {source="Orphanet:96181"} synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181] synonym: "UPD(6)mat" EXACT [Orphanet:96181] +xref: GARD:19333 {source="Orphanet:96181"} xref: ICD10CM:Q99.8 {source="Orphanet:96181", source="Orphanet:96181/attributed", source="Orphanet:96181/ntbt"} xref: Orphanet:96181 {source="MONDO:equivalentTo"} xref: SCTID:766239009 {source="MONDO:equivalentTo"} @@ -380871,9 +398498,11 @@ relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid id: MONDO:0019913 name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 def: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." [Orphanet:96182] +subset: gard_rare {source="GARD:19334"} subset: ordo_etiological_subtype {source="Orphanet:96182"} synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182] synonym: "UPD(7)mat" EXACT [Orphanet:96182] +xref: GARD:19334 {source="Orphanet:96182"} xref: ICD10CM:Q87.1 {source="Orphanet:96182/attributed", source="Orphanet:96182/ntbt", source="Orphanet:96182"} xref: Orphanet:96182 {source="MONDO:equivalentTo"} xref: UMLS:CN206841 {source="MONDO:equivalentTo"} @@ -380885,9 +398514,11 @@ relationship: disease_arises_from_structure CHR:9606-chr7 {source="https://orcid id: MONDO:0019914 name: maternal uniparental disomy of chromosome 9 def: "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96183] +subset: gard_rare {source="GARD:19335"} subset: ordo_malformation_syndrome {source="Orphanet:96183"} synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183] synonym: "UPD(9)mat" EXACT [Orphanet:96183] +xref: GARD:19335 {source="Orphanet:96183"} xref: ICD10CM:Q99.8 {source="Orphanet:96183", source="Orphanet:96183/attributed", source="Orphanet:96183/ntbt"} xref: Orphanet:96183 {source="MONDO:equivalentTo"} xref: SCTID:766240006 {source="MONDO:equivalentTo"} @@ -380898,9 +398529,11 @@ relationship: disease_arises_from_structure CHR:9606-chr9 {source="https://orcid id: MONDO:0019915 name: maternal uniparental disomy of chromosome 14 def: "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." [Orphanet:96184] +subset: gard_rare {source="GARD:16848"} subset: ordo_etiological_subtype {source="Orphanet:96184"} synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184] synonym: "UPD(14)mat" EXACT [Orphanet:96184] +xref: GARD:16848 {source="Orphanet:96184"} xref: ICD10CM:Q99.8 {source="Orphanet:96184/attributed", source="Orphanet:96184/ntbt", source="Orphanet:96184"} xref: Orphanet:96184 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect @@ -380910,9 +398543,11 @@ relationship: disease_arises_from_structure CHR:9606-chr14 {source="https://orci [Term] id: MONDO:0019916 name: maternal uniparental disomy of chromosome 16 +subset: gard_rare {source="GARD:19336"} subset: ordo_malformation_syndrome {source="Orphanet:96185"} synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185] synonym: "UPD(16)mat" EXACT [Orphanet:96185] +xref: GARD:19336 {source="Orphanet:96185"} xref: ICD10CM:Q99.8 {source="Orphanet:96185/attributed", source="Orphanet:96185/ntbt", source="Orphanet:96185"} xref: Orphanet:96185 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -380922,6 +398557,7 @@ relationship: disease_arises_from_structure CHR:9606-chr16 {source="https://orci id: MONDO:0019917 name: maternal uniparental disomy of chromosome 20 def: "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." [Orphanet:96186] +subset: gard_rare {source="GARD:16849"} subset: ordo_malformation_syndrome {source="Orphanet:96186"} synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96186] synonym: "maternal UPD(20)" EXACT [Orphanet:96186] @@ -380930,6 +398566,7 @@ synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [OMIM:617352] synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352] synonym: "UPD(20)mat" EXACT [Orphanet:96186] xref: DOID:0111714 {source="MONDO:equivalentTo"} +xref: GARD:16849 {source="Orphanet:96186"} xref: ICD10CM:Q99.8 {source="Orphanet:96186/attributed", source="Orphanet:96186/ntbt", source="Orphanet:96186"} xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"} xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"} @@ -380941,9 +398578,11 @@ relationship: disease_arises_from_structure CHR:9606-chr20 {source="https://orci [Term] id: MONDO:0019918 name: maternal uniparental disomy of chromosome 21 +subset: gard_rare {source="GARD:19337"} subset: ordo_malformation_syndrome {source="Orphanet:96187"} synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187] synonym: "UPD(21)mat" EXACT [Orphanet:96187] +xref: GARD:19337 {source="Orphanet:96187"} xref: ICD10CM:Q99.8 {source="Orphanet:96187/attributed", source="Orphanet:96187/ntbt", source="Orphanet:96187"} xref: Orphanet:96187 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -380952,9 +398591,11 @@ relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orci [Term] id: MONDO:0019919 name: maternal uniparental disomy of chromosome 22 +subset: gard_rare {source="GARD:19338"} subset: ordo_malformation_syndrome {source="Orphanet:96188"} synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188] synonym: "UPD(22)mat" EXACT [Orphanet:96188] +xref: GARD:19338 {source="Orphanet:96188"} xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="Orphanet:96188/attributed", source="Orphanet:96188/ntbt"} xref: Orphanet:96188 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -380964,9 +398605,11 @@ relationship: disease_arises_from_structure CHR:9606-chr22 {source="https://orci id: MONDO:0019920 name: paternal uniparental disomy of chromosome 5 def: "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96190] +subset: gard_rare {source="GARD:19339"} subset: ordo_malformation_syndrome {source="Orphanet:96190"} synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190] synonym: "UPD(5)pat" EXACT [Orphanet:96190] +xref: GARD:19339 {source="Orphanet:96190"} xref: ICD10CM:Q99.8 {source="Orphanet:96190", source="Orphanet:96190/attributed", source="Orphanet:96190/ntbt"} xref: Orphanet:96190 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -380976,9 +398619,11 @@ relationship: disease_arises_from_structure CHR:9606-chr5 {source="https://orcid id: MONDO:0019921 name: paternal uniparental disomy of chromosome 6 def: "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." [Orphanet:96191] +subset: gard_rare {source="GARD:19340"} subset: ordo_malformation_syndrome {source="Orphanet:96191"} synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191] synonym: "UPD(6)pat" EXACT [Orphanet:96191] +xref: GARD:19340 {source="Orphanet:96191"} xref: ICD10CM:Q99.8 {source="Orphanet:96191", source="Orphanet:96191/attributed", source="Orphanet:96191/ntbt"} xref: Orphanet:96191 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -380988,9 +398633,11 @@ relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid id: MONDO:0019922 name: paternal uniparental disomy of chromosome 7 def: "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." [Orphanet:96192] +subset: gard_rare {source="GARD:19341"} subset: ordo_malformation_syndrome {source="Orphanet:96192"} synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192] synonym: "UPD(7)pat" EXACT [Orphanet:96192] +xref: GARD:19341 {source="Orphanet:96192"} xref: ICD10CM:Q99.8 {source="Orphanet:96192", source="Orphanet:96192/attributed", source="Orphanet:96192/ntbt"} xref: Orphanet:96192 {source="MONDO:equivalentTo"} xref: SCTID:766721001 {source="MONDO:equivalentTo"} @@ -381000,10 +398647,12 @@ relationship: disease_arises_from_structure CHR:9606-chr7 {source="https://orcid [Term] id: MONDO:0019923 name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 +subset: gard_rare {source="GARD:19342"} subset: ordo_etiological_subtype {source="Orphanet:96193"} synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193] synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193] synonym: "UPD(11)pat" EXACT [Orphanet:96193] +xref: GARD:19342 {source="Orphanet:96193"} xref: ICD10CM:Q87.3 {source="Orphanet:96193/attributed", source="Orphanet:96193/ntbt", source="Orphanet:96193"} xref: Orphanet:96193 {source="MONDO:equivalentTo"} xref: UMLS:CN206842 {source="MONDO:equivalentTo"} @@ -381015,11 +398664,13 @@ relationship: disease_arises_from_structure CHR:9606-chr11 {source="https://orci id: MONDO:0019924 name: paternal uniparental disomy of chromosome 20 def: "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." [Orphanet:96194] +subset: gard_rare {source="GARD:19343"} subset: ordo_malformation_syndrome {source="Orphanet:96194"} synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96194] synonym: "paternal UPD(20)" EXACT [Orphanet:96194] synonym: "paternal UPD20" EXACT [Orphanet:96194] synonym: "UPD(20)pat" EXACT [Orphanet:96194] +xref: GARD:19343 {source="Orphanet:96194"} xref: ICD10CM:Q99.8 {source="Orphanet:96194", source="Orphanet:96194/attributed", source="Orphanet:96194/ntbt"} xref: Orphanet:96194 {source="MONDO:equivalentTo"} xref: SCTID:715736008 {source="MONDO:equivalentTo"} @@ -381031,9 +398682,11 @@ relationship: disease_arises_from_structure CHR:9606-chr20 {source="https://orci id: MONDO:0019925 name: paternal uniparental disomy of chromosome 21 def: "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96195] +subset: gard_rare {source="GARD:19344"} subset: ordo_malformation_syndrome {source="Orphanet:96195"} synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195] synonym: "UPD(21)pat" EXACT [Orphanet:96195] +xref: GARD:19344 {source="Orphanet:96195"} xref: ICD10CM:Q99.8 {source="Orphanet:96195/attributed", source="Orphanet:96195/ntbt", source="Orphanet:96195"} xref: Orphanet:96195 {source="MONDO:equivalentTo"} xref: SCTID:766720000 {source="MONDO:equivalentTo"} @@ -381044,7 +398697,9 @@ relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orci id: MONDO:0019926 name: X small rings def: "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." [Orphanet:96201] +subset: gard_rare {source="GARD:19345"} subset: ordo_malformation_syndrome {source="Orphanet:96201"} +xref: GARD:19345 {source="Orphanet:96201"} xref: ICD10CM:Q99.8 {source="Orphanet:96201/attributed", source="Orphanet:96201/ntbt", source="Orphanet:96201"} xref: Orphanet:96201 {source="MONDO:equivalentTo"} xref: SCTID:766760004 {source="MONDO:equivalentTo"} @@ -381120,10 +398775,11 @@ relationship: disease_has_location UBERON:0000007 {source="NCIT:C7911"} ! pituit id: MONDO:0019928 name: 48,XXXY syndrome def: "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." [Orphanet:96263] -subset: gard_rare {source="GARD:0005676"} +subset: gard_rare {source="GARD:5676"} subset: ordo_malformation_syndrome {source="Orphanet:96263"} synonym: "48, XXXY syndrome" EXACT [NCIT:C89799] synonym: "XXXY syndrome" RELATED [GARD:0005676] +xref: GARD:5676 {source="Orphanet:96263"} xref: ICD10CM:Q98.1 {source="Orphanet:96263/attributed", source="Orphanet:96263/ntbt", source="Orphanet:96263"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048228 {source="Orphanet:96263/e", source="Orphanet:96263"} @@ -381143,10 +398799,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5676/48xxxy- id: MONDO:0019929 name: 49,XXXXY syndrome def: "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." [Orphanet:96264] -subset: gard_rare {source="GARD:0005679"} +subset: gard_rare {source="GARD:5679"} subset: ordo_malformation_syndrome {source="Orphanet:96264"} synonym: "49,XXXXY" RELATED [GARD:0005679] synonym: "XXXXY syndrome" RELATED [GARD:0005679] +xref: GARD:5679 {source="Orphanet:96264"} xref: ICD10CM:Q98.1 {source="Orphanet:96264/attributed", source="Orphanet:96264/ntbt", source="Orphanet:96264"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007713 {source="MONDO:relatedTo"} @@ -381166,6 +398823,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5679/49xxxxy [Term] id: MONDO:0019930 name: Leydig cell hypoplasia due to complete LH resistance +subset: gard_rare {source="GARD:16851"} subset: ordo_clinical_subtype {source="Orphanet:96265"} synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [Orphanet:96265] synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [Orphanet:96265] @@ -381179,6 +398837,7 @@ synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] xref: DOID:0112260 {source="MONDO:equivalentTo"} +xref: GARD:16851 {source="Orphanet:96265"} xref: ICD10CM:Q56.1 {source="Orphanet:96265", source="Orphanet:96265/attributed", source="Orphanet:96265/ntbt"} xref: Orphanet:96265 {source="MONDO:equivalentTo"} xref: UMLS:CN206847 {source="MONDO:equivalentTo"} @@ -381188,6 +398847,7 @@ property_value: confidence "28.00000000000005" xsd:double [Term] id: MONDO:0019931 name: Leydig cell hypoplasia due to partial LH resistance +subset: gard_rare {source="GARD:16852"} subset: ordo_clinical_subtype {source="Orphanet:96266"} synonym: "46,XY disorder of sex developement due to partial LH receptor inactivation" EXACT [Orphanet:96266] synonym: "46,XY disorder of sex developement due to partial LH resistance" EXACT [Orphanet:96266] @@ -381199,6 +398859,7 @@ synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] xref: DOID:0112261 {source="MONDO:equivalentTo"} +xref: GARD:16852 {source="Orphanet:96266"} xref: ICD10CM:Q56.1 {source="Orphanet:96266", source="Orphanet:96266/attributed", source="Orphanet:96266/ntbt"} xref: Orphanet:96266 {source="MONDO:equivalentTo"} xref: UMLS:CN206848 {source="MONDO:equivalentTo"} @@ -381209,8 +398870,10 @@ property_value: confidence "28.00000000000005" xsd:double id: MONDO:0019932 name: isolated partial vaginal agenesis def: "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." [Orphanet:96269] +subset: gard_rare {source="GARD:19347"} subset: ordo_morphological_anomaly {source="Orphanet:96269"} synonym: "congenital absence of vagina" EXACT [Orphanet:96269] +xref: GARD:19347 {source="Orphanet:96269"} xref: ICD10CM:Q52.0 {source="Orphanet:96269/ntbt", source="Orphanet:96269"} xref: Orphanet:96269 {source="MONDO:equivalentTo"} xref: SCTID:87380008 {source="MONDO:equivalentTo"} @@ -381222,13 +398885,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019933 name: acromegaly def: "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." [Orphanet:963] -subset: gard_rare {source="GARD:0005725"} +subset: gard_rare {source="GARD:5725"} subset: ordo_disease {source="Orphanet:963"} synonym: "Growth hormone excess" RELATED [GARD:0005725] synonym: "pituitary giant" RELATED [GARD:0005725] synonym: "somatotroph adenoma" RELATED [GARD:0005725] xref: DOID:2449 {source="MONDO:equivalentTo"} xref: EFO:1001485 {source="MONDO:equivalentTo"} +xref: GARD:5725 {source="Orphanet:963"} xref: ICD10CM:E22.0 {source="Orphanet:963", source="Orphanet:963/e"} xref: MedDRA:10000599 {source="Orphanet:963", source="Orphanet:963/e"} xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449"} @@ -381248,7 +398912,9 @@ id: MONDO:0019934 name: polyploidy def: "Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123] subset: disease_grouping +subset: gard_rare {source="GARD:19348"} subset: ordo_group_of_disorders {source="Orphanet:96321"} +xref: GARD:19348 {source="Orphanet:96321"} xref: ICD10CM:Q92.7 {source="Orphanet:96321", source="Orphanet:96321/e", source="Orphanet:96321/specific"} xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="Orphanet:96321/e"} xref: Orphanet:96321 {source="MONDO:equivalentTo"} @@ -381262,8 +398928,10 @@ intersection_of: has_characteristic SO:0001254 ! polyploid id: MONDO:0019935 name: isochromosome Y subset: disease_grouping +subset: gard_rare {source="GARD:19349"} subset: ordo_group_of_disorders {source="Orphanet:96325"} synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325] +xref: GARD:19349 {source="Orphanet:96325"} xref: ICD10CM:Q98.6 {source="Orphanet:96325/attributed", source="Orphanet:96325/ntbt", source="Orphanet:96325"} xref: Orphanet:96325 {source="MONDO:equivalentTo"} is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y disorder @@ -381272,7 +398940,9 @@ is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosom id: MONDO:0019936 name: obsolete rare otorhinolaryngological malformation subset: disease_grouping +subset: gard_rare {source="GARD:19350"} subset: ordo_group_of_disorders {source="Orphanet:96333"} +xref: GARD:19350 {source="Orphanet:96333", source="MONDO:obsoleteEquivalent"} xref: Orphanet:96333 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227722 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -381284,7 +398954,9 @@ is_obsolete: true id: MONDO:0019937 name: obsolete rare gynecologic or obstetric disease subset: disease_grouping +subset: gard_rare {source="GARD:22514"} subset: ordo_group_of_disorders {source="Orphanet:96344"} +xref: GARD:22514 {source="Orphanet:96344", source="MONDO:obsoleteEquivalent"} xref: Orphanet:96344 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -381296,7 +398968,9 @@ is_obsolete: true id: MONDO:0019938 name: anorectal malformation subset: disease_grouping +subset: gard_rare {source="GARD:19351"} subset: ordo_group_of_disorders {source="Orphanet:96346"} +xref: GARD:19351 {source="Orphanet:96346"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537771 {source="Orphanet:96346", source="MONDO:equivalentTo", source="Orphanet:96346/e"} xref: Orphanet:96346 {source="MONDO:equivalentTo"} @@ -381308,7 +398982,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare [Term] id: MONDO:0019939 name: early-onset schizophrenia +subset: gard_rare {source="GARD:19352"} subset: ordo_disease {source="Orphanet:96369"} +xref: GARD:19352 {source="Orphanet:96369"} xref: ICD10CM:F20.8 {source="Orphanet:96369/ntbt", source="Orphanet:96369"} xref: Orphanet:96369 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder @@ -381318,7 +398994,6 @@ is_a: MONDO:0005090 {source="MONDO:cjm"} ! schizophrenia id: MONDO:0019940 name: hypertrichosis-acromegaloid facial appearance syndrome def: "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." [Orphanet:966] -subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:966"} synonym: "acromegaloid facial appearance syndrome and hypertrichosis" RELATED [GARD:0000502] synonym: "acromegaloid hypertrichosis syndrome" RELATED [GARD:0000502] @@ -381339,6 +399014,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/502/acromega id: MONDO:0019941 name: hereditary sensory and autonomic neuropathy type 2 def: "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." [Orphanet:970] +subset: gard_rare {source="GARD:3976"} subset: ordo_disease {source="Orphanet:970"} synonym: "autosomal recessive sensory radicular neuropathy" EXACT [Orphanet:970] synonym: "Giaccai type acroosteolysis" RELATED [GARD:0003976] @@ -381348,6 +399024,7 @@ synonym: "hereditary sensory radicular neuropathy, recessive form" RELATED [GARD synonym: "HSAN2" EXACT ABBREVIATION [DOID:0070161, Orphanet:970] synonym: "neurogenic acroosteolysis" EXACT [Orphanet:970] xref: DOID:0070161 {source="MONDO:equivalentTo"} +xref: GARD:3976 {source="Orphanet:970"} xref: ICD10CM:G60.8 {source="Orphanet:970/attributed", source="Orphanet:970/ntbt", source="Orphanet:970"} xref: Orphanet:970 {source="MONDO:equivalentTo", source="DOID:0070161"} xref: PMID:21089229 {source="DOID:0070161"} @@ -381366,12 +399043,14 @@ id: MONDO:0019942 name: distal arthrogryposis def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [DOID:0050646, http://en.wikipedia.org/wiki/Arthrogryposis] subset: disease_grouping +subset: gard_rare {source="GARD:786"} subset: ordo_group_of_disorders {source="Orphanet:97120"} synonym: "arthrogryposis multiplex congenita" RELATED EXCLUDE [DOID:0050646] synonym: "arthrogryposis multiplex congenita distal" RELATED [GARD:0000786] synonym: "freeman-Sheldon syndrome" RELATED EXCLUDE [DOID:0050646] synonym: "freeman-Sheldon syndrome variant" RELATED EXCLUDE [DOID:0050646] xref: DOID:0050646 {source="MONDO:equivalentTo"} +xref: GARD:786 {source="Orphanet:97120"} xref: ICD10CM:Q68.8 {source="Orphanet:97120/attributed", source="Orphanet:97120/ntbt", source="Orphanet:97120"} xref: OMIMPS:108120 {source="MONDO:equivalentTo"} xref: Orphanet:1147 {source="DOID:0050646"} @@ -381387,10 +399066,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/786/distal-a id: MONDO:0019943 name: hereditary continuous muscle fiber activity def: "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." [Orphanet:972] -subset: gard_rare +subset: gard_rare {source="GARD:1512"} subset: ordo_disease {source="Orphanet:972"} synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857] synonym: "continuous muscle fibre activity hereditary" EXACT OMO:0003005 [] +xref: GARD:1512 {source="Orphanet:972"} xref: ICD10CM:G71.1 {source="Orphanet:972", source="Orphanet:972/attributed", source="Orphanet:972/ntbt"} xref: Orphanet:972 {source="MONDO:equivalentTo"} xref: UMLS:C1834559 {source="Orphanet:972", source="MONDO:equivalentTo", source="GARD:0001512"} @@ -381403,9 +399083,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1512/continu id: MONDO:0019944 name: Eisenmenger syndrome def: "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." [Orphanet:97214] -subset: gard_rare {source="GARD:0006323"} +subset: gard_rare {source="GARD:6323"} subset: ordo_malformation_syndrome {source="Orphanet:97214"} synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390] +xref: GARD:6323 {source="Orphanet:97214"} xref: ICD10CM:I27.2 {source="Orphanet:97214", source="Orphanet:97214/ntbt"} xref: MedDRA:10058554 {source="Orphanet:97214", source="Orphanet:97214/e"} xref: MESH:D004541 {source="MONDO:equivalentTo"} @@ -381421,7 +399102,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6323/eisenme id: MONDO:0019945 name: solar urticaria def: "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." [Orphanet:97230] +subset: gard_rare {source="GARD:19353"} subset: ordo_disease {source="Orphanet:97230"} +xref: GARD:19353 {source="Orphanet:97230"} xref: ICD10CM:L56.3 {source="Orphanet:97230/e", source="MONDO:equivalentTo", source="Orphanet:97230"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041307 {source="Orphanet:97230/e", source="Orphanet:97230"} @@ -381452,6 +399135,7 @@ relationship: has_characteristic PATO:0001863 ! chronic id: MONDO:0019947 name: rippling muscle disease 2 def: "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." [NCIT:C148325] +subset: gard_rare {source="GARD:9164"} subset: ordo_disease {source="Orphanet:97238"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -381467,6 +399151,7 @@ synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:desig synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1] synonym: "RMD2" EXACT ABBREVIATION [NCIT:C148325, OMIM:606072] xref: DOID:0060255 {source="MONDO:equivalentTo"} +xref: GARD:9164 {source="Orphanet:97238"} xref: NCIT:C148325 {source="MONDO:equivalentTo"} xref: OMIM:606072 {source="DOID:0060255", source="MONDO:equivalentTo"} xref: Orphanet:97238 {source="DOID:0060255", source="MONDO:equivalentTo", source="OMIM:606072"} @@ -381480,9 +399165,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0019948 name: reducing body myopathy def: "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers." [Orphanet:97239] -subset: gard_rare {source="GARD:0012162"} +subset: gard_rare {source="GARD:12162"} subset: ordo_disease {source="Orphanet:97239"} xref: DOID:0080090 {source="MONDO:equivalentTo"} +xref: GARD:12162 {source="Orphanet:97239"} xref: ICD10CM:G71.2 {source="Orphanet:97239", source="Orphanet:97239/attributed", source="Orphanet:97239/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97239 {source="MONDO:equivalentTo"} @@ -381494,7 +399180,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12162/reduci [Term] id: MONDO:0019949 name: zebra body myopathy +subset: gard_rare {source="GARD:19354"} subset: ordo_disease {source="Orphanet:97240"} +xref: GARD:19354 {source="Orphanet:97240"} xref: ICD10CM:G71.2 {source="Orphanet:97240/attributed", source="Orphanet:97240/ntbt", source="Orphanet:97240"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97240 {source="MONDO:equivalentTo"} @@ -381508,12 +399196,14 @@ id: MONDO:0019950 name: congenital muscular dystrophy def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." [DOID:0050557] subset: disease_grouping +subset: gard_rare {source="GARD:9138"} subset: ordo_group_of_disorders {source="Orphanet:97242"} synonym: "CMD" EXACT ABBREVIATION [Orphanet:97242] synonym: "congenital MD" RELATED [GARD:0009138] synonym: "MDC" EXACT ABBREVIATION [Orphanet:97242] xref: DOID:0050557 {source="MONDO:equivalentTo"} xref: EFO:0006819 {source="MONDO:equivalentTo"} +xref: GARD:9138 {source="Orphanet:97242"} xref: ICD10CM:G71.2 {source="Orphanet:97242/ntbt", source="Orphanet:97242/inclusion", source="Orphanet:97242"} xref: ICD9:359.0 {source="DOID:0050557"} xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"} @@ -381533,11 +399223,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019951 name: rigid spine syndrome def: "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." [Orphanet:97244] +subset: gard_rare {source="GARD:4723"} subset: ordo_disease {source="Orphanet:97244"} synonym: "desmin-related myopathies with Mallory bodies" RELATED [GARD:0004723] synonym: "muscular dystrophy, congenital, merosin positive with early spine rigidity" RELATED [GARD:0004723] synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244] synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723] +xref: GARD:4723 {source="Orphanet:97244"} xref: ICD10CM:G71.2 {source="Orphanet:97244", source="Orphanet:97244/attributed", source="Orphanet:97244/ntbt"} xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="Orphanet:97244/e"} xref: Orphanet:97244 {source="MONDO:equivalentTo"} @@ -381550,12 +399242,14 @@ property_value: confidence "1.4091991999999998" xsd:double id: MONDO:0019952 name: congenital myopathy subset: disease_grouping +subset: gard_rare {source="GARD:5898"} subset: ordo_group_of_disorders {source="Orphanet:97245"} synonym: "Batten Turner congenital myopathy" RELATED [GARD:0005898] synonym: "congenital myopathy" EXACT CLINGEN_PREFERRED [] synonym: "myopathy congenital" RELATED [GARD:0005898] xref: DOID:0080100 {source="MONDO:equivalentObsolete"} xref: DOID:0081337 {source="MONDO:equivalentTo"} +xref: GARD:5898 {source="Orphanet:97245"} xref: ICD10CM:G71.2 {source="Orphanet:97245", source="Orphanet:97245/e", source="Orphanet:97245/specific"} xref: MedDRA:10062547 {source="Orphanet:97245", source="Orphanet:97245/e"} xref: OMIMPS:117000 {source="MONDO:equivalentTo"} @@ -381572,7 +399266,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019953 name: mega-cisterna magna +subset: gard_rare {source="GARD:19355"} subset: ordo_morphological_anomaly {source="Orphanet:97252"} +xref: GARD:19355 {source="Orphanet:97252"} xref: ICD10CM:Q07.8 {source="Orphanet:97252/ntbt", source="Orphanet:97252"} xref: Orphanet:97252 {source="MONDO:equivalentTo"} xref: UMLS:C3164501 {source="Orphanet:97252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97252"} @@ -381583,6 +399279,7 @@ id: MONDO:0019954 name: pancreatic neuroendocrine tumor def: "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." [Orphanet:97253] subset: disease_grouping +subset: gard_rare {source="GARD:13034"} subset: ordo_group_of_disorders {source="Orphanet:97253"} synonym: "islet cell tumor" EXACT [NCIT:C27720] synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720] @@ -381606,6 +399303,7 @@ synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253] synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:97253] xref: DOID:1799 {source="EFO:1000045"} xref: EFO:1000045 {source="MONDO:equivalentTo"} +xref: GARD:13034 {source="Orphanet:97253"} xref: ICD10CM:E16.8 {source="Orphanet:97253/ntbt", source="Orphanet:97253"} xref: ICDO:8150/1 {source="NCIT:C27720"} xref: NCIT:C27720 {source="EFO:1000045", source="MONDO:equivalentTo"} @@ -381622,11 +399320,13 @@ is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:97253", source=" id: MONDO:0019955 name: GRFoma def: "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." [Orphanet:97261] +subset: gard_rare {source="GARD:19356"} subset: ordo_disease {source="Orphanet:97261"} synonym: "GRF tumor" EXACT [Orphanet:97261] synonym: "GRF tumour" EXACT OMO:0003005 [] synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261] synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 [] +xref: GARD:19356 {source="Orphanet:97261"} xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"} xref: Orphanet:97261 {source="MONDO:equivalentTo"} xref: UMLS:CN206877 {source="MONDO:equivalentTo"} @@ -381637,9 +399337,11 @@ id: MONDO:0019956 name: encephalitis def: "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." [NCIT:C26760] subset: disease_grouping +subset: gard_rare {source="GARD:19357"} subset: ordo_group_of_disorders {source="Orphanet:97275"} synonym: "brain inflammation" BROAD [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:9588 {source="MONDO:equivalentTo"} +xref: GARD:19357 {source="Orphanet:97275"} xref: ICD10CM:A85 {source="MONDO:equivalentTo"} xref: ICD9:323.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:323.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -381665,11 +399367,13 @@ relationship: excluded_subClassOf MONDO:0005108 {source="DOID:9588"} ! viral inf id: MONDO:0019957 name: PPoma def: "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." [Orphanet:97278] +subset: gard_rare {source="GARD:19358"} subset: ordo_disease {source="Orphanet:97278"} synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumour" EXACT OMO:0003005 [] synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278] +xref: GARD:19358 {source="Orphanet:97278"} xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8152/1 {source="NCIT:C67453"} @@ -381691,12 +399395,13 @@ replaced_by: MONDO:0005048 id: MONDO:0019959 name: glucagonoma def: "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." [Orphanet:97280] -subset: gard_rare +subset: gard_rare {source="GARD:2496"} subset: ordo_disease {source="Orphanet:97280"} synonym: "glucagonoma" EXACT [NCIT:C95597] synonym: "glucagonoma syndrome" EXACT [Orphanet:97280] synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597] xref: EFO:1000441 {source="MONDO:equivalentTo"} +xref: GARD:2496 {source="Orphanet:97280"} xref: ICD10CM:E16.8 {source="Orphanet:97280", source="Orphanet:97280/ntbt"} xref: MedDRA:10018404 {source="Orphanet:97280", source="Orphanet:97280/e"} xref: MESH:D005935 {source="MONDO:equivalentTo", source="Orphanet:97280", source="Orphanet:97280/e"} @@ -381710,6 +399415,7 @@ is_a: MONDO:0019954 {source="NCIT:C95597/inferred", source="Orphanet:97280", sou id: MONDO:0019960 name: VIPoma def: "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." [Orphanet:97282] +subset: gard_rare {source="GARD:3787"} subset: ordo_disease {source="Orphanet:97282"} synonym: "Diarrheogenic islet cell tumor" EXACT [Orphanet:97282] synonym: "Diarrheogenic islet cell tumour" EXACT OMO:0003005 [] @@ -381744,6 +399450,7 @@ synonym: "watery diarrhea-hypokalemia-achlorhydria syndrome" RELATED [Orphanet:9 synonym: "WDHA syndrome" RELATED [Orphanet:97282] xref: DOID:5574 {source="MONDO:equivalentTo"} xref: EFO:1000622 {source="MONDO:equivalentTo"} +xref: GARD:3787 {source="Orphanet:97282"} xref: ICD10CM:E16.8 {source="Orphanet:97282/ntbt", source="Orphanet:97282"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8155/1 {source="NCIT:C26749"} @@ -381769,6 +399476,7 @@ replaced_by: MONDO:0006976 id: MONDO:0019962 name: thyroid lymphoma def: "A lymphoma primarily involving the thyroid gland." [NCIT:C5265] +subset: gard_rare {source="GARD:19359"} subset: ordo_disease {source="Orphanet:97285"} synonym: "lymphoma of the thyroid" EXACT [NCIT:C5265] synonym: "lymphoma of the thyroid gland" EXACT [NCIT:C5265] @@ -381778,6 +399486,7 @@ synonym: "primary thyroid gland lymphoma" EXACT [NCIT:C5265] synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265] synonym: "thyroid lymphoma" EXACT [NCIT:C5265] xref: DOID:10011 {source="MONDO:equivalentTo"} +xref: GARD:19359 {source="Orphanet:97285"} xref: NCIT:C5265 {source="MONDO:equivalentTo", source="DOID:10011"} xref: Orphanet:97285 {source="MONDO:equivalentTo"} xref: UMLS:C1336753 {source="NCIT:C5265", source="MONDO:equivalentTo", source="DOID:10011"} @@ -381791,6 +399500,7 @@ intersection_of: disease_has_location UBERON:0002046 ! thyroid gland id: MONDO:0019963 name: bronchial endocrine tumor def: "A neuroendocrine neoplasm that involves the bronchus." [MONDO:patterns/location] +subset: gard_rare {source="GARD:19360"} subset: ordo_disease {source="Orphanet:97287"} synonym: "bronchial NET" EXACT [Orphanet:97287] synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287] @@ -381801,6 +399511,7 @@ synonym: "bronchus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_ne synonym: "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "bronchus neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] +xref: GARD:19360 {source="Orphanet:97287"} xref: ICD10CM:D38.1 {source="Orphanet:97287/ntbt", source="Orphanet:97287"} xref: Orphanet:97287 {source="MONDO:equivalentTo"} xref: UMLS:CN206886 {source="MONDO:equivalentTo"} @@ -381811,6 +399522,7 @@ intersection_of: disease_has_location UBERON:0002185 ! bronchus id: MONDO:0019964 name: thymic neuroendocrine tumor def: "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." [Orphanet:97289] +subset: gard_rare {source="GARD:19361"} subset: ordo_disease {source="Orphanet:97289"} synonym: "neuroendocrine neoplasm of thymus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] @@ -381818,6 +399530,7 @@ synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumour" EXACT OMO:0003005 [] +xref: GARD:19361 {source="Orphanet:97289"} xref: ICD10CM:D38.4 {source="Orphanet:97289", source="Orphanet:97289/ntbt"} xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} xref: Orphanet:97289 {source="MONDO:equivalentTo"} @@ -381832,8 +399545,10 @@ id: MONDO:0019965 name: obsolete rare benign ovarian tumor def: "OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19363"} subset: ordo_group_of_disorders {source="Orphanet:97293"} synonym: "rare ovarian benign neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:19363 {source="MONDO:obsoleteEquivalent", source="Orphanet:97293"} xref: Orphanet:97293 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0004997 {source="Orphanet:97293"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -381850,6 +399565,7 @@ replaced_by: MONDO:0005979 id: MONDO:0019967 name: Kienbock disease def: "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." [Orphanet:97332] +subset: gard_rare {source="GARD:9690"} subset: ordo_disease {source="Orphanet:97332"} synonym: "aseptic necrosis of the lunate bone" EXACT [Orphanet:97332] synonym: "bilateral Kienbock's disease" RELATED [GARD:0009690] @@ -381857,6 +399573,7 @@ synonym: "Kienbock's disease" RELATED [GARD:0009690] synonym: "Lunatomalacia" EXACT [Orphanet:97332] synonym: "osteochondritis of the lunate bone" EXACT [Orphanet:97332] synonym: "Osteochondrosis of the lunate bone" EXACT [Orphanet:97332] +xref: GARD:9690 {source="Orphanet:97332"} xref: ICD10CM:M92.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"} xref: ICD10CM:M93.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"} xref: MedDRA:10064242 {source="Orphanet:97332", source="Orphanet:97332/e"} @@ -381874,9 +399591,11 @@ replaced_by: MONDO:0004241 id: MONDO:0019969 name: panner disease def: "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." [Orphanet:97336] +subset: gard_rare {source="GARD:19365"} subset: ordo_disease {source="Orphanet:97336"} synonym: "aseptic necrosis of the capital humerus" EXACT [Orphanet:97336] synonym: "Osteochondrosis of the capital humerus" EXACT [Orphanet:97336] +xref: GARD:19365 {source="Orphanet:97336"} xref: ICD10CM:M92.0 {source="Orphanet:97336/ntbt", source="Orphanet:97336"} xref: Orphanet:97336 {source="MONDO:equivalentTo"} xref: UMLS:CN206896 {source="MONDO:equivalentTo"} @@ -381886,9 +399605,11 @@ is_a: MONDO:0018381 {source="Orphanet:97336"} ! osteochondrosis id: MONDO:0019970 name: Sinding-Larsen-Johansson disease def: "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella." [Orphanet:97337] +subset: gard_rare {source="GARD:19366"} subset: ordo_disease {source="Orphanet:97337"} synonym: "aseptic necrosis of patella" EXACT [Orphanet:97337] synonym: "Osteochondrosis of patella" EXACT [Orphanet:97337] +xref: GARD:19366 {source="Orphanet:97337"} xref: ICD10CM:M92.4 {source="Orphanet:97337/ntbt", source="Orphanet:97337"} xref: MedDRA:10063585 {source="Orphanet:97337", source="Orphanet:97337/e"} xref: Orphanet:97337 {source="MONDO:equivalentTo"} @@ -381900,8 +399621,10 @@ is_a: MONDO:0018381 {source="Orphanet:97337"} ! osteochondrosis [Term] id: MONDO:0019971 name: melanoma of soft tissue +subset: gard_rare {source="GARD:19367"} subset: ordo_disease {source="Orphanet:97338"} synonym: "clear cell sarcoma of the tendons and aponeuroses" EXACT [Orphanet:97338] +xref: GARD:19367 {source="Orphanet:97338"} xref: Orphanet:97338 {source="MONDO:equivalentTo"} xref: UMLS:C0206651 {source="MONDO:relatedTo", source="Orphanet:97338"} is_a: MONDO:0006424 {source="Orphanet:97338"} ! soft tissue neoplasm @@ -381910,9 +399633,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare [Term] id: MONDO:0019972 name: dural sinus malformation +subset: gard_rare {source="GARD:19368"} subset: ordo_morphological_anomaly {source="Orphanet:97339"} synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339] synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339] +xref: GARD:19368 {source="Orphanet:97339"} xref: ICD10CM:Q28.3 {source="Orphanet:97339", source="Orphanet:97339/ntbt"} xref: Orphanet:97339 {source="MONDO:equivalentTo"} is_a: MONDO:0001256 {source="Orphanet:97339"} ! arteriovenous hemangioma/malformation @@ -381922,7 +399647,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare id: MONDO:0019973 name: persistent placoid maculopathy def: "Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision." [Orphanet:97341] +subset: gard_rare {source="GARD:19369"} subset: ordo_disease {source="Orphanet:97341"} +xref: GARD:19369 {source="Orphanet:97341"} xref: Orphanet:97341 {source="MONDO:equivalentTo"} xref: SCTID:719297006 {source="MONDO:equivalentTo"} xref: UMLS:C4304823 {source="MONDO:equivalentTo"} @@ -381939,13 +399666,14 @@ replaced_by: MONDO:0001945 id: MONDO:0019975 name: pellagra def: "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." [Orphanet:97352] -subset: gard_rare {source="GARD:0010014"} +subset: gard_rare {source="GARD:10014"} subset: ordo_disease {source="Orphanet:97352"} synonym: "niacin deficiency" EXACT [DOID:8457] synonym: "niacin-tryptophan deficiency" EXACT [DOID:8457] synonym: "pellagra" EXACT [DOID:8457] xref: DOID:8457 {source="MONDO:equivalentTo"} xref: EFO:0008570 {source="MONDO:equivalentTo"} +xref: GARD:10014 {source="Orphanet:97352"} xref: ICD10CM:E52 {source="DOID:8457", source="Orphanet:97352/e", source="Orphanet:97352"} xref: ICD9:265.2 {source="DOID:8457"} xref: MedDRA:10029400 {source="Orphanet:97352/e", source="Orphanet:97352"} @@ -381968,11 +399696,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10014/pellag id: MONDO:0019976 name: dementia pugilistica def: "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." [MESH:D020208] +subset: gard_rare {source="GARD:19371"} subset: ordo_disease {source="Orphanet:97353"} synonym: "Boxer's dementia" EXACT [Orphanet:97353] synonym: "chronic traumatic encephalopathy" EXACT [Orphanet:97353] synonym: "punch-drunk syndrome" EXACT [Orphanet:97353] xref: DOID:0081291 {source="MONDO:equivalentTo"} +xref: GARD:19371 {source="Orphanet:97353"} xref: MESH:D020208 {source="MONDO:equivalentTo"} xref: Orphanet:97353 {source="MONDO:equivalentTo"} xref: SCTID:230283005 {source="MONDO:equivalentTo"} @@ -381984,7 +399714,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019515"} ! rare id: MONDO:0019977 name: parkinsonism with dementia of Guadeloupe def: "Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." [Orphanet:97355] +subset: gard_rare {source="GARD:19372"} subset: ordo_disease {source="Orphanet:97355"} +xref: GARD:19372 {source="Orphanet:97355"} xref: ICD10EXP:F02.3* {source="Orphanet:97355", source="Orphanet:97355/ntbt"} xref: ICD10EXP:G20+ {source="Orphanet:97355", source="Orphanet:97355/ntbt"} xref: Orphanet:97355 {source="MONDO:equivalentTo"} @@ -381998,6 +399730,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019515"} ! rare id: MONDO:0019978 name: Robinow syndrome def: "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:97360] +subset: gard_rare {source="GARD:312"} subset: ordo_malformation_syndrome {source="Orphanet:97360"} synonym: "acral dysostosis with facial and genital abnormalities" EXACT [DOID:0060254, Orphanet:97360] synonym: "costovertebral segmentation defect with mesomelia (formerly)" RELATED [GARD:0000312] @@ -382008,6 +399741,7 @@ synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [Orphanet:97360] synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360] synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360] xref: DOID:0060254 {source="MONDO:equivalentTo"} +xref: GARD:312 {source="Orphanet:97360"} xref: ICD10CM:Q87.1 {source="DOID:0060254", source="Orphanet:97360/inclusion", source="Orphanet:97360", source="Orphanet:97360/ntbt"} xref: MESH:C562492 {source="DOID:0060254"} xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo"} @@ -382028,7 +399762,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019979 name: renal hypoplasia, unilateral def: "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." [Orphanet:97361] +subset: gard_rare {source="GARD:19373"} subset: ordo_clinical_subtype {source="Orphanet:97361"} +xref: GARD:19373 {source="Orphanet:97361"} xref: ICD10CM:Q60.3 {source="Orphanet:97361/specific", source="Orphanet:97361/e", source="MONDO:equivalentTo", source="Orphanet:97361"} xref: Orphanet:97361 {source="MONDO:equivalentTo"} xref: UMLS:C0431691 {source="Orphanet:97361/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97361"} @@ -382038,7 +399774,9 @@ is_a: MONDO:0019637 {source="Orphanet:97361"} ! renal hypoplasia id: MONDO:0019980 name: renal hypoplasia, bilateral def: "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." [Orphanet:97362] +subset: gard_rare {source="GARD:19374"} subset: ordo_clinical_subtype {source="Orphanet:97362"} +xref: GARD:19374 {source="Orphanet:97362"} xref: ICD10CM:Q60.4 {source="Orphanet:97362/e", source="Orphanet:97362/specific", source="MONDO:equivalentTo", source="Orphanet:97362"} xref: Orphanet:97362 {source="MONDO:equivalentTo"} xref: SCTID:268232000 {source="MONDO:equivalentTo"} @@ -382049,9 +399787,11 @@ is_a: MONDO:0019637 {source="Orphanet:97362"} ! renal hypoplasia id: MONDO:0019981 name: unilateral multicystic dysplastic kidney def: "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." [Orphanet:97363] +subset: gard_rare {source="GARD:19375"} subset: ordo_clinical_subtype {source="Orphanet:97363"} synonym: "unilateral MCDK" EXACT [Orphanet:97363] synonym: "unilateral multicystic renal dysplasia" EXACT [Orphanet:97363] +xref: GARD:19375 {source="Orphanet:97363"} xref: ICD10CM:Q61.4 {source="Orphanet:97363/attributed", source="Orphanet:97363/ntbt", source="Orphanet:97363"} xref: MESH:D021782 {source="Orphanet:97363/e", source="Orphanet:97363"} xref: Orphanet:97363 {source="MONDO:equivalentTo"} @@ -382062,12 +399802,14 @@ is_a: MONDO:0015988 {source="Orphanet:97363"} ! multicystic dysplastic kidney id: MONDO:0019982 name: bilateral multicystic dysplastic kidney def: "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." [Orphanet:97364] +subset: gard_rare {source="GARD:9517"} subset: ordo_clinical_subtype {source="Orphanet:97364"} synonym: "bilateral MCDK" EXACT [Orphanet:97364] synonym: "bilateral multicystic renal dysplasia" EXACT [Orphanet:97364] synonym: "MRD" RELATED ABBREVIATION [GARD:0009517] synonym: "Pelvi-ureteric junction obstruction" RELATED [GARD:0009517] synonym: "PUJO" RELATED ABBREVIATION [GARD:0009517] +xref: GARD:9517 {source="Orphanet:97364"} xref: ICD10CM:Q61.4 {source="Orphanet:97364/attributed", source="Orphanet:97364/ntbt", source="Orphanet:97364"} xref: MESH:C537373 {source="Orphanet:97364/e", source="Orphanet:97364"} xref: MESH:D021782 {source="Orphanet:97364/e", source="Orphanet:97364"} @@ -382080,9 +399822,11 @@ is_a: MONDO:0015988 {source="Orphanet:97364"} ! multicystic dysplastic kidney [Term] id: MONDO:0019983 name: multiloculated renal cyst +subset: gard_rare {source="GARD:19376"} subset: ordo_morphological_anomaly {source="Orphanet:97366"} synonym: "multilocular cyst of the kidney" EXACT [Orphanet:97366] synonym: "multilocular renal cyst" EXACT [Orphanet:97366] +xref: GARD:19376 {source="Orphanet:97366"} xref: Orphanet:97366 {source="MONDO:equivalentTo"} xref: SCTID:86463003 {source="MONDO:equivalentTo"} is_a: MONDO:0021163 {source="Orphanet:97366"} ! kidney neoplasm @@ -382092,7 +399836,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare id: MONDO:0019984 name: renal tubular dysgenesis due to twin-twin transfusion def: "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." [https://orcid.org/0000-0001-5208-3432, Orphanet:97367] +subset: gard_rare {source="GARD:19377"} subset: ordo_etiological_subtype {source="Orphanet:97367"} +xref: GARD:19377 {source="Orphanet:97367"} xref: ICD10CM:Q63.8 {source="Orphanet:97367/ntbt", source="Orphanet:97367"} xref: Orphanet:97367 {source="MONDO:equivalentTo"} xref: UMLS:CN206914 {source="MONDO:equivalentTo"} @@ -382101,7 +399847,9 @@ is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis [Term] id: MONDO:0019985 name: drug-related renal tubular dysgenesis +subset: gard_rare {source="GARD:19378"} subset: ordo_etiological_subtype {source="Orphanet:97368"} +xref: GARD:19378 {source="Orphanet:97368"} xref: ICD10CM:Q63.8 {source="Orphanet:97368", source="Orphanet:97368/ntbt"} xref: Orphanet:97368 {source="MONDO:equivalentTo"} is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97368"} ! renal tubular dysgenesis @@ -382129,8 +399877,10 @@ is_obsolete: true id: MONDO:0019988 name: pauci-immune glomerulonephritis with ANCA def: "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." [Orphanet:97563] +subset: gard_rare {source="GARD:19379"} subset: ordo_clinical_subtype {source="Orphanet:97563"} synonym: "pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody" EXACT [Orphanet:97563] +xref: GARD:19379 {source="Orphanet:97563"} xref: ICD10CM:N05.7 {source="Orphanet:97563", source="Orphanet:97563/ntbt"} xref: Orphanet:97563 {source="MONDO:equivalentTo"} xref: UMLS:CN206923 {source="MONDO:equivalentTo"} @@ -382140,9 +399890,11 @@ is_a: MONDO:0019641 {source="Orphanet:97563"} ! Pauci-immune glomerulonephritis id: MONDO:0019989 name: pauci-immune glomerulonephritis without ANCA def: "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." [Orphanet:97564] +subset: gard_rare {source="GARD:19380"} subset: ordo_clinical_subtype {source="Orphanet:97564"} synonym: "antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis" EXACT [Orphanet:97564] synonym: "pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody" EXACT [Orphanet:97564] +xref: GARD:19380 {source="Orphanet:97564"} xref: ICD10CM:N05.7 {source="Orphanet:97564", source="Orphanet:97564/ntbt"} xref: Orphanet:97564 {source="MONDO:equivalentTo"} is_a: MONDO:0019641 {source="Orphanet:97564"} ! Pauci-immune glomerulonephritis @@ -382151,10 +399903,12 @@ is_a: MONDO:0019641 {source="Orphanet:97564"} ! Pauci-immune glomerulonephritis id: MONDO:0019990 name: non-amyloid fibrillary glomerulopathy def: "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." [Orphanet:97566] +subset: gard_rare {source="GARD:12740"} subset: ordo_disease {source="Orphanet:97566"} synonym: "Congo red-negative amyloidosis-like glomerulopathy" EXACT [Orphanet:97566] synonym: "fibrillary glomerulonephritis" RELATED [GARD:0012740] synonym: "non-amyloid fibrillary glomerulonephritis" EXACT [Orphanet:97566] +xref: GARD:12740 {source="Orphanet:97566"} xref: ICD10CM:N03.6 {source="Orphanet:97566", source="Orphanet:97566/ntbt"} xref: Orphanet:97566 {source="MONDO:equivalentTo"} xref: SCTID:718192000 {source="MONDO:equivalentTo"} @@ -382165,11 +399919,12 @@ is_a: MONDO:0019605 {source="Orphanet:97566"} ! immunotactoid or fibrillary glom id: MONDO:0019991 name: immunotactoid glomerulopathy def: "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." [Orphanet:97567] -subset: gard_rare {source="GARD:0012048"} +subset: gard_rare {source="GARD:12048"} subset: ordo_disease {source="Orphanet:97567"} synonym: "FGN" EXACT ABBREVIATION [NCIT:C96182] synonym: "fibrillary glomerulonephritis" EXACT [NCIT:C96182] synonym: "Immunotactoid glomerulonephritis" EXACT [Orphanet:97567] +xref: GARD:12048 {source="Orphanet:97567"} xref: ICD10CM:N03.6 {source="Orphanet:97567/ntbt", source="Orphanet:97567"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C158968 {source="MONDO:equivalentTo"} @@ -382187,9 +399942,10 @@ id: MONDO:0019992 name: pseudohypoparathyroidism def: "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." [Orphanet:97593] subset: disease_grouping -subset: gard_rare {source="GARD:0010758"} +subset: gard_rare {source="GARD:10758"} subset: ordo_group_of_disorders {source="Orphanet:97593"} xref: DOID:4184 {source="MONDO:equivalentTo"} +xref: GARD:10758 {source="Orphanet:97593"} xref: ICD10CM:E20.1 {source="Orphanet:97593/e", source="Orphanet:97593/specific", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037126 {source="Orphanet:97593/e", source="Orphanet:97593"} @@ -382212,9 +399968,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10758/pseudo id: MONDO:0019993 name: congenital renal artery stenosis def: "A narrowing of renal arteries that is present since birth." [PMID:25316474] +subset: gard_rare {source="GARD:19381"} subset: ordo_disease {source="Orphanet:97598"} synonym: "congenital RAS" EXACT [PMID:25316474] synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598] +xref: GARD:19381 {source="Orphanet:97598"} xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="Orphanet:97598/e"} xref: Orphanet:97598 {source="MONDO:equivalentTo"} xref: SCTID:271432005 {source="MONDO:equivalentTo"} @@ -382227,9 +399985,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019994 name: maternal uniparental disomy of chromosome 13 def: "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:97678] +subset: gard_rare {source="GARD:19382"} subset: ordo_malformation_syndrome {source="Orphanet:97678"} synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678] synonym: "UPD(13)mat" EXACT [Orphanet:97678] +xref: GARD:19382 {source="Orphanet:97678"} xref: ICD10CM:Q99.8 {source="Orphanet:97678/attributed", source="Orphanet:97678/ntbt", source="Orphanet:97678"} xref: Orphanet:97678 {source="MONDO:equivalentTo"} xref: UMLS:CN036719 {source="MONDO:equivalentTo"} @@ -382240,7 +400000,6 @@ relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orci id: MONDO:0019995 name: peripheral resistance to thyroid hormones def: "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:97927] -subset: gard_rare {source="GARD:0012734"} subset: ordo_disease {source="Orphanet:97927"} xref: ICD10CM:E03.1 {source="Orphanet:97927/attributed", source="Orphanet:97927/ntbt", source="Orphanet:97927"} xref: Orphanet:97927 {source="MONDO:equivalentObsolete"} @@ -382255,8 +400014,10 @@ id: MONDO:0019996 name: obsolete rare cardiac disease def: "OBSOLETE. Rare heart disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22515"} subset: ordo_group_of_disorders {source="Orphanet:97929"} synonym: "rare heart disease" EXACT [MONDO:patterns/rare] +xref: GARD:22515 {source="MONDO:obsoleteEquivalent", source="Orphanet:97929"} xref: Orphanet:97929 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206932 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382267,7 +400028,9 @@ replaced_by: MONDO:0005267 id: MONDO:0019997 name: obsolete rare gastroenterologic disease subset: disease_grouping +subset: gard_rare {source="GARD:22516"} subset: ordo_group_of_disorders {source="Orphanet:97935"} +xref: GARD:22516 {source="MONDO:obsoleteEquivalent", source="Orphanet:97935"} xref: Orphanet:97935 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206933 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382277,6 +400040,8 @@ replaced_by: MONDO:0000001 [Term] id: MONDO:0019998 name: obsolete gastroduodenal malformation +subset: gard_rare {source="GARD:19383"} +xref: GARD:19383 {source="MONDO:obsoleteEquivalent", source="Orphanet:97944"} xref: Orphanet:97944 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382286,6 +400051,8 @@ is_obsolete: true [Term] id: MONDO:0019999 name: obsolete intestinal malformation +subset: gard_rare {source="GARD:19384"} +xref: GARD:19384 {source="MONDO:obsoleteEquivalent", source="Orphanet:97945"} xref: Orphanet:97945 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382297,8 +400064,10 @@ id: MONDO:0020000 name: obsolete rare respiratory disease def: "OBSOLETE. Rare respiratory system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22517"} subset: ordo_group_of_disorders {source="Orphanet:97955"} synonym: "rare respiratory system disease" EXACT [MONDO:patterns/rare] +xref: GARD:22517 {source="MONDO:obsoleteEquivalent", source="Orphanet:97955"} xref: Orphanet:97955 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206934 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382309,7 +400078,9 @@ replaced_by: MONDO:0005087 id: MONDO:0020001 name: respiratory or thoracic malformation subset: disease_grouping +subset: gard_rare {source="GARD:19385"} subset: ordo_group_of_disorders {source="Orphanet:97957"} +xref: GARD:19385 {source="Orphanet:97957"} xref: Orphanet:97957 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="Orphanet:97957"} ! respiratory system disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare @@ -382318,7 +400089,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare id: MONDO:0020002 name: obsolete rare surgical thoracic disease subset: disease_grouping +subset: gard_rare {source="GARD:22518"} subset: ordo_group_of_disorders {source="Orphanet:97962"} +xref: GARD:22518 {source="Orphanet:97962", source="MONDO:obsoleteEquivalent"} xref: Orphanet:97962 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206935 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382329,7 +400102,9 @@ replaced_by: MONDO:0000001 id: MONDO:0020003 name: obsolete rare surgical cardiac disease subset: disease_grouping +subset: gard_rare {source="GARD:22519"} subset: ordo_group_of_disorders {source="Orphanet:97965"} +xref: GARD:22519 {source="MONDO:obsoleteEquivalent", source="Orphanet:97965"} xref: Orphanet:97965 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206936 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382341,8 +400116,10 @@ id: MONDO:0020004 name: obsolete rare eye disease def: "OBSOLETE. Rare eye disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22520"} subset: ordo_group_of_disorders {source="Orphanet:97966"} synonym: "rare eye disease" EXACT [MONDO:patterns/rare] +xref: GARD:22520 {source="MONDO:obsoleteEquivalent", source="Orphanet:97966"} xref: Orphanet:97966 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206937 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382354,8 +400131,10 @@ id: MONDO:0020005 name: obsolete rare endocrine disease def: "OBSOLETE. Rare endocrine system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22521"} subset: ordo_group_of_disorders {source="Orphanet:97978"} synonym: "rare endocrine system disease" EXACT [MONDO:patterns/rare] +xref: GARD:22521 {source="MONDO:obsoleteEquivalent", source="Orphanet:97978"} xref: Orphanet:97978 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206938 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382372,7 +400151,9 @@ replaced_by: MONDO:0005570 id: MONDO:0020007 name: absence of the pulmonary artery def: "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." [Orphanet:980] +subset: gard_rare {source="GARD:18712"} subset: ordo_morphological_anomaly {source="Orphanet:980"} +xref: GARD:18712 {source="Orphanet:980"} xref: ICD10CM:Q25.7 {source="Orphanet:980/ntbt", source="Orphanet:980"} xref: Orphanet:980 {source="MONDO:equivalentTo"} xref: UMLS:CN206941 {source="MONDO:equivalentTo"} @@ -382386,8 +400167,10 @@ id: MONDO:0020008 name: obsolete rare immune disease def: "OBSOLETE. Rare immune system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22523"} subset: ordo_group_of_disorders {source="Orphanet:98004"} synonym: "rare immune system disease" EXACT [MONDO:patterns/rare] +xref: GARD:22523 {source="Orphanet:98004", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98004 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206942 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382399,9 +400182,11 @@ id: MONDO:0020009 name: obsolete rare neurologic disease def: "OBSOLETE. Rare nervous system disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22524"} subset: ordo_group_of_disorders {source="Orphanet:98006"} synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare, Orphanet:98006] synonym: "rare nervous system disorder" EXACT [MONDO:patterns/rare] +xref: GARD:22524 {source="Orphanet:98006", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98006 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206943 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382413,9 +400198,11 @@ id: MONDO:0020010 name: infectious disorder of the nervous system def: "A infectious disease that involves the nervous system." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:19386"} subset: ordo_group_of_disorders {source="Orphanet:98010"} synonym: "nervous system infectious disease" EXACT [MONDO:patterns/location] synonym: "nervous system infectious disorder" EXACT [NCIT:C27590] +xref: GARD:19386 {source="Orphanet:98010"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27590 {source="MONDO:equivalentTo"} xref: Orphanet:98010 {source="MONDO:equivalentTo"} @@ -382431,9 +400218,11 @@ id: MONDO:0020011 name: obsolete rare headache disorder def: "OBSOLETE. Rare headache disorder." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19387"} subset: ordo_group_of_disorders {source="Orphanet:98022"} synonym: "rare headache" EXACT [Orphanet:98022] synonym: "rare headache disorder" EXACT [MONDO:patterns/rare] +xref: GARD:19387 {source="MONDO:obsoleteEquivalent", source="Orphanet:98022"} xref: Orphanet:98022 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0393735 {source="Orphanet:98022"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382452,7 +400241,9 @@ consider: MONDO:0000001 id: MONDO:0020013 name: obsolete rare odontologic disease subset: disease_grouping +subset: gard_rare {source="GARD:22526"} subset: ordo_group_of_disorders {source="Orphanet:98026"} +xref: GARD:22526 {source="Orphanet:98026", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98026 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206946 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382464,7 +400255,9 @@ is_obsolete: true id: MONDO:0020014 name: obsolete rare disease with odontological manifestation subset: disease_grouping +subset: gard_rare {source="GARD:19388"} subset: ordo_group_of_disorders {source="Orphanet:98027"} +xref: GARD:19388 {source="Orphanet:98027", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98027 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206947 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382477,8 +400270,10 @@ id: MONDO:0020015 name: obsolete rare circulatory system disease def: "OBSOLETE. A rare form of cardiovascular disease." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping +subset: gard_rare {source="GARD:22527"} subset: ordo_group_of_disorders {source="Orphanet:98028"} synonym: "rare cardiovascular disease" EXACT [MONDO:patterns/rare] +xref: GARD:22527 {source="Orphanet:98028", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98028 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206948 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382489,7 +400284,9 @@ replaced_by: MONDO:0004995 id: MONDO:0020016 name: obsolete rare neurologic disease with psychiatric involvement subset: disease_grouping +subset: gard_rare {source="GARD:19389"} subset: ordo_group_of_disorders {source="Orphanet:98033"} +xref: GARD:19389 {source="MONDO:obsoleteEquivalent", source="Orphanet:98033"} xref: Orphanet:98033 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206949 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382502,9 +400299,11 @@ id: MONDO:0020017 name: obsolete rare otorhinolaryngologic disease def: "OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:22528"} subset: ordo_group_of_disorders {source="Orphanet:98036"} synonym: "rare head and neck disease" RELATED [] synonym: "rare otorhinolaryngologic disease" EXACT [MONDO:patterns/rare] +xref: GARD:22528 {source="Orphanet:98036", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98036 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206950 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382514,6 +400313,8 @@ replaced_by: MONDO:0024623 [Term] id: MONDO:0020018 name: obsolete cranial malformation +subset: gard_rare {source="GARD:19390"} +xref: GARD:19390 {source="Orphanet:98038", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382523,6 +400324,8 @@ is_obsolete: true [Term] id: MONDO:0020019 name: obsolete digestive tract malformation +subset: gard_rare {source="GARD:19391"} +xref: GARD:19391 {source="Orphanet:98039", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q38-Q45 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:98039 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -382533,6 +400336,8 @@ is_obsolete: true [Term] id: MONDO:0020020 name: obsolete visceral malformation of the liver, biliary tract, pancreas or spleen +subset: gard_rare {source="GARD:19392"} +xref: GARD:19392 {source="MONDO:obsoleteEquivalent", source="Orphanet:98041"} xref: Orphanet:98041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382542,6 +400347,8 @@ is_obsolete: true [Term] id: MONDO:0020021 name: obsolete diaphragmatic or abdominal wall malformation +subset: gard_rare {source="GARD:19393"} +xref: GARD:19393 {source="MONDO:obsoleteEquivalent", source="Orphanet:98043"} xref: Orphanet:98043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI is_obsolete: true @@ -382552,7 +400359,9 @@ consider: MONDO:0100298 id: MONDO:0020022 name: central nervous system malformation subset: disease_grouping +subset: gard_rare {source="GARD:19394"} subset: ordo_group_of_disorders {source="Orphanet:98044"} +xref: GARD:19394 {source="Orphanet:98044"} xref: ICD10CM:Q00-Q07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D009421 {source="MONDO:equivalentTo"} xref: Orphanet:98044 {source="MONDO:equivalentTo"} @@ -382563,6 +400372,8 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare [Term] id: MONDO:0020023 name: obsolete respiratory or mediastinal malformation +subset: gard_rare {source="GARD:19395"} +xref: GARD:19395 {source="MONDO:obsoleteEquivalent", source="Orphanet:98045"} xref: Orphanet:98045 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382574,9 +400385,11 @@ id: MONDO:0020024 name: obsolete rare infertility def: "OBSOLETE. Rare infertility." [] subset: disease_grouping +subset: gard_rare {source="GARD:22529"} subset: ordo_group_of_disorders {source="Orphanet:98047"} synonym: "rare infertility" EXACT [MONDO:patterns/rare] synonym: "rare infertility disorder" EXACT [MONDO:patterns/rare] +xref: GARD:22529 {source="Orphanet:98047", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98047 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227735 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382588,8 +400401,10 @@ id: MONDO:0020025 name: obsolete rare male infertility def: "OBSOLETE. Rare male infertility." [] subset: disease_grouping +subset: gard_rare {source="GARD:19396"} subset: ordo_group_of_disorders {source="Orphanet:98048"} synonym: "rare male infertility" EXACT [MONDO:patterns/rare] +xref: GARD:19396 {source="Orphanet:98048", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98048 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0021364 {source="Orphanet:98048"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382601,8 +400416,10 @@ id: MONDO:0020026 name: obsolete rare female infertility def: "OBSOLETE. Rare female infertility." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19397"} subset: ordo_group_of_disorders {source="Orphanet:98049"} synonym: "rare female infertility" EXACT [MONDO:patterns/rare] +xref: GARD:19397 {source="Orphanet:98049", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98049 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227737 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382614,10 +400431,12 @@ id: MONDO:0020027 name: obsolete rare allergic disease def: "OBSOLETE. Rare allergic hypersensitivity disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:22530"} subset: ordo_group_of_disorders {source="Orphanet:98050"} synonym: "rare allergic disease" EXACT [MONDO:patterns/rare] synonym: "rare allergic hypersensitivity disease" EXACT [] synonym: "rare allergy" EXACT [Orphanet:98050] +xref: GARD:22530 {source="MONDO:obsoleteEquivalent", source="Orphanet:98050"} xref: Orphanet:98050 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206951 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382629,9 +400448,11 @@ id: MONDO:0020028 name: obsolete rare allergic respiratory disease def: "OBSOLETE. Rare respiratory allergy." [] subset: disease_grouping +subset: gard_rare {source="GARD:19398"} subset: ordo_group_of_disorders {source="Orphanet:98052"} synonym: "rare allergic respiratory disease" EXACT [MONDO:patterns/rare] synonym: "rare respiratory allergy" EXACT [Orphanet:98052] +xref: GARD:19398 {source="MONDO:obsoleteEquivalent", source="Orphanet:98052"} xref: Orphanet:98052 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1504369 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98052"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382643,8 +400464,10 @@ id: MONDO:0020029 name: obsolete rare genetic cardiac disease def: "OBSOLETE. Rare genetic heart disease." [] subset: disease_grouping +subset: gard_rare {source="GARD:19399"} subset: ordo_group_of_disorders {source="Orphanet:98054"} synonym: "rare genetic heart disease" EXACT [] +xref: GARD:19399 {source="MONDO:obsoleteEquivalent", source="Orphanet:98054"} xref: Orphanet:98054 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206954 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382655,7 +400478,9 @@ replaced_by: MONDO:0005267 id: MONDO:0020030 name: obsolete rare genetic renal disease subset: disease_grouping +subset: gard_rare {source="GARD:19400"} subset: ordo_group_of_disorders {source="Orphanet:98056"} +xref: GARD:19400 {source="MONDO:obsoleteEquivalent", source="Orphanet:98056"} xref: Orphanet:98056 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206955 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382667,10 +400492,12 @@ id: MONDO:0020031 name: obsolete rare tumor def: "OBSOLETE. Rare disease of cellular proliferation." [] subset: disease_grouping +subset: gard_rare {source="GARD:19401"} subset: ordo_group_of_disorders {source="Orphanet:98057"} synonym: "rare disease of cellular proliferation" EXACT [] synonym: "rare neoplasm" EXACT [Orphanet:98057] synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare] +xref: GARD:19401 {source="MONDO:obsoleteEquivalent", source="Orphanet:98057"} xref: Orphanet:98057 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0375111 {source="Orphanet:98057"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382682,10 +400509,12 @@ id: MONDO:0020032 name: obsolete rare urinary tract tumor def: "OBSOLETE. Rare urinary system benign neoplasm." [] subset: disease_grouping +subset: gard_rare {source="GARD:19402"} subset: ordo_group_of_disorders {source="Orphanet:98058"} synonym: "rare urinary system neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare urinary tract cancer" EXACT [Orphanet:98058] synonym: "rare urinary tract neoplasm" EXACT [Orphanet:98058] +xref: GARD:19402 {source="Orphanet:98058", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98058 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0042076 {source="Orphanet:98058"} xref: UMLS:C0751571 {source="Orphanet:98058"} @@ -382699,10 +400528,12 @@ id: MONDO:0020033 name: obsolete rare digestive tumor def: "OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19403"} subset: ordo_group_of_disorders {source="Orphanet:98059"} synonym: "rare digestive cancer" EXACT [Orphanet:98059] synonym: "rare digestive neoplasm" EXACT [Orphanet:98059] synonym: "rare digestive system neoplasm" EXACT [MONDO:patterns/rare] +xref: GARD:19403 {source="Orphanet:98059", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98059 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0012243 {source="Orphanet:98059"} xref: UMLS:C0017185 {source="Orphanet:98059"} @@ -382717,11 +400548,13 @@ id: MONDO:0020034 name: obsolete rare respiratory tract neoplasm def: "OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19404"} subset: ordo_group_of_disorders {source="Orphanet:98060"} synonym: "rare respiratory cancer" NARROW [Orphanet:98060] synonym: "rare respiratory neoplasm" EXACT [Orphanet:98060] synonym: "rare respiratory tract neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare respiratory tumor" EXACT [Orphanet:98060] +xref: GARD:19404 {source="MONDO:obsoleteEquivalent", source="Orphanet:98060"} xref: Orphanet:98060 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0035244 {source="Orphanet:98060"} xref: UMLS:C0154131 {source="Orphanet:98060"} @@ -382734,10 +400567,12 @@ replaced_by: MONDO:0020641 id: MONDO:0020035 name: obsolete rare otorhinolaryngologic tumor subset: disease_grouping +subset: gard_rare {source="GARD:19405"} subset: ordo_group_of_disorders {source="Orphanet:98061"} synonym: "rare ORL cancer" EXACT [Orphanet:98061] synonym: "rare ORL neoplasm" EXACT [Orphanet:98061] synonym: "rare ORL tumor" EXACT [Orphanet:98061] +xref: GARD:19405 {source="MONDO:obsoleteEquivalent", source="Orphanet:98061"} xref: Orphanet:98061 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206960 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382750,10 +400585,12 @@ id: MONDO:0020036 name: obsolete rare nervous system tumor def: "OBSOLETE. Rare nervous system cancer." [] subset: disease_grouping +subset: gard_rare {source="GARD:19406"} subset: ordo_group_of_disorders {source="Orphanet:98062"} synonym: "nervous system rare tumor" EXACT [MONDO:patterns/location] synonym: "rare nervous system cancer" EXACT [] synonym: "rare nervous system neoplasm" EXACT [Orphanet:98062] +xref: GARD:19406 {source="MONDO:obsoleteEquivalent", source="Orphanet:98062"} xref: Orphanet:98062 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0027766 {source="Orphanet:98062"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -382765,10 +400602,12 @@ id: MONDO:0020037 name: obsolete rare gynecological tumor def: "OBSOLETE. Rare female reproductive system neoplasm." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19407"} subset: ordo_group_of_disorders {source="Orphanet:98063"} synonym: "rare female reproductive system neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare gynecological cancer" EXACT [Orphanet:98063] synonym: "rare gynecological neoplasm" EXACT [Orphanet:98063] +xref: GARD:19407 {source="MONDO:obsoleteEquivalent", source="Orphanet:98063"} xref: Orphanet:98063 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0017416 {source="Orphanet:98063"} xref: UMLS:C0699889 {source="Orphanet:98063"} @@ -382781,6 +400620,8 @@ replaced_by: MONDO:0021148 id: MONDO:0020038 name: obsolete gonadal dysgenesis of gynecological interest comment: These terms are not used clinically. +subset: gard_rare {source="GARD:19408"} +xref: GARD:19408 {source="MONDO:obsoleteEquivalent", source="Orphanet:98074"} xref: Orphanet:98074 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -382789,7 +400630,9 @@ consider: MONDO:0002145 [Term] id: MONDO:0020039 name: obsolete 46,XX disorder of sex development induced by androgens excess +subset: gard_rare {source="GARD:19409"} synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078] +xref: GARD:19409 {source="MONDO:obsoleteEquivalent", source="Orphanet:98078"} xref: Orphanet:98078 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227738 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -382804,6 +400647,7 @@ id: MONDO:0020040 name: 46,XY disorder of sex development def: "Differences of sex development in individuals with 46,XY karyotype." [NCIT:C127171] subset: disease_grouping +subset: gard_rare {source="GARD:8538"} subset: ordo_group_of_disorders {source="Orphanet:98085"} synonym: "46, XY disorders of sexual development" RELATED [GARD:0008538] synonym: "46, XY DSD" RELATED [GARD:0008538] @@ -382812,6 +400656,7 @@ synonym: "46,XY differences of Sex development" EXACT [NCIT:C127171] synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171] synonym: "46,XY DSD" EXACT [Orphanet:98085] synonym: "XY female" RELATED [GARD:0008538] +xref: GARD:8538 {source="Orphanet:98085"} xref: MESH:D058490 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085"} xref: NCIT:C127171 {source="MONDO:equivalentTo"} xref: Orphanet:325706 {source="MONDO:mondoIsBroaderThanSource"} @@ -382824,7 +400669,9 @@ is_a: MONDO:0002145 {source="MESH:D058490", source="NCIT:C127171", source="Orpha id: MONDO:0020041 name: obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' +subset: gard_rare {source="GARD:19410"} subset: ordo_group_of_disorders {source="Orphanet:98086"} +xref: GARD:19410 {source="MONDO:obsoleteEquivalent", source="Orphanet:98086"} xref: Orphanet:98086 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227739 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382836,8 +400683,10 @@ consider: MONDO:0017969 id: MONDO:0020042 name: obsolete syndrome with 46,XY disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:19411"} subset: ordo_group_of_disorders {source="Orphanet:98087"} synonym: "syndrome with 46,XY DSD" EXACT [Orphanet:98087] +xref: GARD:19411 {source="MONDO:obsoleteEquivalent", source="Orphanet:98087"} xref: Orphanet:98087 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206965 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -382849,7 +400698,9 @@ consider: MONDO:0002254 id: MONDO:0020043 name: autosomal recessive congenital cerebellar ataxia subset: disease_grouping +subset: gard_rare {source="GARD:19412"} subset: ordo_group_of_disorders {source="Orphanet:98095"} +xref: GARD:19412 {source="Orphanet:98095"} xref: Orphanet:98095 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98095"} ! autosomal recessive cerebellar ataxia @@ -382857,7 +400708,9 @@ is_a: MONDO:0015244 {source="Orphanet:98095"} ! autosomal recessive cerebellar a id: MONDO:0020044 name: autosomal recessive metabolic cerebellar ataxia subset: disease_grouping +subset: gard_rare {source="GARD:19413"} subset: ordo_group_of_disorders {source="Orphanet:98096"} +xref: GARD:19413 {source="Orphanet:98096"} xref: Orphanet:98096 {source="MONDO:equivalentTo"} xref: UMLS:CN229258 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98096"} ! autosomal recessive cerebellar ataxia @@ -382866,7 +400719,9 @@ is_a: MONDO:0015244 {source="Orphanet:98096"} ! autosomal recessive cerebellar a id: MONDO:0020045 name: obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autosomal recessive cerebellar ataxia' +subset: gard_rare {source="GARD:19414"} subset: ordo_group_of_disorders {source="Orphanet:98097"} +xref: GARD:19414 {source="MONDO:obsoleteEquivalent", source="Orphanet:98097"} xref: ICD10CM:G11.3 {source="Orphanet:98097/e", source="Orphanet:98097/specific", source="Orphanet:98097"} xref: Orphanet:98097 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227741 {source="MONDO:obsoleteEquivalent"} @@ -382879,7 +400734,9 @@ consider: MONDO:0015244 id: MONDO:0020046 name: autosomal recessive degenerative and progressive cerebellar ataxia subset: disease_grouping +subset: gard_rare {source="GARD:19415"} subset: ordo_group_of_disorders {source="Orphanet:98098"} +xref: GARD:19415 {source="Orphanet:98098"} xref: Orphanet:98098 {source="MONDO:equivalentTo"} xref: UMLS:CN229259 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98098"} ! autosomal recessive cerebellar ataxia @@ -382888,7 +400745,9 @@ is_a: MONDO:0015244 {source="Orphanet:98098"} ! autosomal recessive cerebellar a id: MONDO:0020047 name: autosomal recessive syndromic cerebellar ataxia subset: disease_grouping +subset: gard_rare {source="GARD:19416"} subset: ordo_group_of_disorders {source="Orphanet:98099"} +xref: GARD:19416 {source="Orphanet:98099"} xref: Orphanet:98099 {source="MONDO:equivalentTo"} xref: UMLS:CN227742 {source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="Orphanet:98099"} ! autosomal recessive cerebellar ataxia @@ -382897,10 +400756,11 @@ is_a: MONDO:0015244 {source="Orphanet:98099"} ! autosomal recessive cerebellar a id: MONDO:0020048 name: internal carotid agenesis def: "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography." [Orphanet:981] -subset: gard_rare {source="GARD:0003012"} +subset: gard_rare {source="GARD:3012"} subset: ordo_morphological_anomaly {source="Orphanet:981"} synonym: "agenesis of the internal carotid artery" RELATED [GARD:0003012] synonym: "internal carotid artery agenesis" RELATED [GARD:0003012] +xref: GARD:3012 {source="Orphanet:981"} xref: ICD10CM:Q28.1 {source="Orphanet:981/ntbt", source="Orphanet:981"} xref: Orphanet:981 {source="MONDO:equivalentTo"} xref: SCTID:722004001 {source="MONDO:equivalentTo"} @@ -382912,9 +400772,11 @@ id: MONDO:0020049 name: autosomal anomaly def: "Chromosomal disorder in which the chromosomal anomaly involves an autosome." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:19417"} subset: ordo_group_of_disorders {source="Orphanet:98127"} synonym: "autosome chromosomal anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "chromosomal anomaly of autosome" EXACT [MONDO:design_pattern] +xref: GARD:19417 {source="Orphanet:98127"} xref: Orphanet:98127 {source="MONDO:equivalentTo"} xref: UMLS:CN227743 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:98127"} ! chromosomal disorder @@ -382926,10 +400788,12 @@ id: MONDO:0020050 name: obsolete autosomal trisomy comment: Reason: grouping class. Term to consider: MONDO:0700065 subset: disease_grouping +subset: gard_rare {source="GARD:19418"} subset: ordo_group_of_disorders {source="Orphanet:98130"} synonym: "autosomal duplication" EXACT [Orphanet:98130] synonym: "chromosomal triplication" RELATED [GARD:0006065] synonym: "trisomy" BROAD [NCIT:C3421] +xref: GARD:19418 {source="MONDO:obsoleteEquivalent", source="Orphanet:98130"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3421 xref: Orphanet:98130 {source="MONDO:obsoleteEquivalent"} @@ -382946,7 +400810,9 @@ id: MONDO:0020051 name: obsolete total autosomal trisomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: trisomy subset: disease_grouping +subset: gard_rare {source="GARD:19419"} subset: ordo_group_of_disorders {source="Orphanet:98131"} +xref: GARD:19419 {source="MONDO:obsoleteEquivalent", source="Orphanet:98131"} xref: Orphanet:98131 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -382958,7 +400824,9 @@ id: MONDO:0020052 name: obsolete partial autosomal trisomy/tetrasomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: syndrome caused by partial chromosomal duplication subset: disease_grouping +subset: gard_rare {source="GARD:19420"} subset: ordo_group_of_disorders {source="Orphanet:98132"} +xref: GARD:19420 {source="MONDO:obsoleteEquivalent", source="Orphanet:98132"} xref: Orphanet:98132 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -382969,7 +400837,9 @@ consider: MONDO:0000762 id: MONDO:0020053 name: obsolete total autosomal monosomy subset: disease_grouping +subset: gard_rare {source="GARD:19421"} subset: ordo_group_of_disorders {source="Orphanet:98141"} +xref: GARD:19421 {source="MONDO:obsoleteEquivalent", source="Orphanet:98141"} xref: ICD10CM:Q93.0 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} xref: ICD10CM:Q93.1 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} xref: Orphanet:98141 {source="MONDO:obsoleteEquivalent"} @@ -382983,8 +400853,10 @@ id: MONDO:0020054 name: obsolete partial autosomal monosomy comment: Reason: grouping class. Term to consider: MONDO:0000761 subset: disease_grouping +subset: gard_rare {source="GARD:19422"} subset: ordo_group_of_disorders {source="Orphanet:98142"} synonym: "partial autosomal deletion" EXACT [Orphanet:98142] +xref: GARD:19422 {source="MONDO:obsoleteEquivalent", source="Orphanet:98142"} xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.4 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.5 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} @@ -382999,7 +400871,9 @@ id: MONDO:0020055 name: obsolete autosomal uniparental disomy comment: Reason: grouping class. Term to consider: MONDO:0700086 subset: disease_grouping +subset: gard_rare {source="GARD:19423"} subset: ordo_group_of_disorders {source="Orphanet:98152"} +xref: GARD:19423 {source="MONDO:obsoleteEquivalent", source="Orphanet:98152"} xref: ICD10CM:Q99.8 {source="Orphanet:98152", source="Orphanet:98152/attributed", source="Orphanet:98152/ntbt"} xref: Orphanet:98152 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229262 {source="MONDO:obsoleteEquivalent"} @@ -383013,7 +400887,9 @@ id: MONDO:0020056 name: obsolete uniparental disomy of maternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:19424"} subset: ordo_group_of_disorders {source="Orphanet:98153"} +xref: GARD:19424 {source="MONDO:obsoleteEquivalent", source="Orphanet:98153"} xref: ICD10CM:Q99.8 {source="Orphanet:98153/attributed", source="Orphanet:98153/ntbt", source="Orphanet:98153"} xref: Orphanet:98153 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726401004 {source="MONDO:obsoleteEquivalent"} @@ -383026,7 +400902,9 @@ id: MONDO:0020057 name: obsolete uniparental disomy of paternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:19425"} subset: ordo_group_of_disorders {source="Orphanet:98154"} +xref: GARD:19425 {source="MONDO:obsoleteEquivalent", source="Orphanet:98154"} xref: ICD10CM:Q99.8 {source="Orphanet:98154/attributed", source="Orphanet:98154/ntbt", source="Orphanet:98154"} xref: Orphanet:98154 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726402006 {source="MONDO:obsoleteEquivalent"} @@ -383039,8 +400917,10 @@ id: MONDO:0020058 name: gonosome anomaly def: "Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y." [https://orcid.org/0000-0002-4142-7153] subset: disease_grouping +subset: gard_rare {source="GARD:19426"} subset: ordo_group_of_disorders {source="Orphanet:98155"} synonym: "Sex-chromosome anomaly" EXACT [Orphanet:98155] +xref: GARD:19426 {source="Orphanet:98155"} xref: ICD9:758.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98155 {source="MONDO:equivalentTo"} @@ -383054,8 +400934,10 @@ id: MONDO:0020059 name: obsolete gonosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping +subset: gard_rare {source="GARD:19427"} subset: ordo_group_of_disorders {source="Orphanet:98156"} synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156] +xref: GARD:19427 {source="MONDO:obsoleteEquivalent", source="Orphanet:98156"} xref: Orphanet:98156 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -383067,8 +400949,10 @@ id: MONDO:0020060 name: obsolete gonosome structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:19428"} subset: ordo_group_of_disorders {source="Orphanet:98157"} synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157] +xref: GARD:19428 {source="Orphanet:98157", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -383079,7 +400963,9 @@ id: MONDO:0020061 name: obsolete chromosome Y structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:19429"} subset: ordo_group_of_disorders {source="Orphanet:98158"} +xref: GARD:19429 {source="Orphanet:98158", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q98.6 {source="Orphanet:98158", source="Orphanet:98158/attributed", source="Orphanet:98158/ntbt"} xref: Orphanet:98158 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383091,7 +400977,9 @@ id: MONDO:0020062 name: obsolete chromosome X structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping +subset: gard_rare {source="GARD:19430"} subset: ordo_group_of_disorders {source="Orphanet:98159"} +xref: GARD:19430 {source="Orphanet:98159", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:98159/attributed", source="Orphanet:98159/ntbt", source="Orphanet:98159"} xref: Orphanet:98159 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383102,8 +400990,10 @@ is_obsolete: true id: MONDO:0020063 name: obsolete malformation syndrome with hamartosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' +subset: gard_rare {source="GARD:19431"} subset: ordo_group_of_disorders {source="Orphanet:98196"} synonym: "Dysmorphologic diseases with phakomatosis" EXACT [Orphanet:98196] +xref: GARD:19431 {source="MONDO:obsoleteEquivalent", source="Orphanet:98196"} xref: Orphanet:98196 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206967 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383116,12 +401006,13 @@ id: MONDO:0020064 name: pulmonary valve agenesis def: "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" [Orphanet:982] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:4597"} subset: ordo_group_of_disorders {source="Orphanet:982"} synonym: "absent pulmonary valve syndrome" EXACT [Orphanet:982] synonym: "congenital absence of the pulmonary valve" EXACT [Orphanet:982] synonym: "pulmonary valves agenesis" RELATED [GARD:0004597] synonym: "PVA" EXACT ABBREVIATION [Orphanet:982] +xref: GARD:4597 {source="Orphanet:982"} xref: ICD10CM:Q22.2 {source="Orphanet:982/ntbt", source="Orphanet:982"} xref: Orphanet:982 {source="MONDO:equivalentTo"} xref: SCTID:6996004 {source="MONDO:equivalentTo"} @@ -383132,8 +401023,10 @@ id: MONDO:0020065 name: combined dystonia def: "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." [https://www.ncbi.nlm.nih.gov/books/NBK1155/] subset: disease_grouping +subset: gard_rare {source="GARD:19432"} subset: ordo_group_of_disorders {source="Orphanet:98203"} synonym: "dystonia-plus syndrome" EXACT [Orphanet:98203] +xref: GARD:19432 {source="Orphanet:98203"} xref: ICD10CM:G24.1 {source="Orphanet:98203/attributed", source="Orphanet:98203/ntbt", source="Orphanet:98203"} xref: Orphanet:98203 {source="MONDO:equivalentTo"} xref: UMLS:CN206969 {source="MONDO:equivalentTo"} @@ -383144,7 +401037,7 @@ id: MONDO:0020066 name: Ehlers-Danlos syndrome def: "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." [PMID:28306229] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:6322"} subset: ordo_group_of_disorders {source="Orphanet:98249"} synonym: "Danlos disease" EXACT [SCTID:398114001] synonym: "Danlos Disease, Ehlers" EXACT [MESH:D004535] @@ -383166,6 +401059,7 @@ synonym: "Meekeren-Ehlers-Danlos syndrome" EXACT [SCTID:398114001] synonym: "skin elastic" EXACT [UMLS:C0013720] synonym: "Syndrome, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720] xref: DOID:13359 {source="MONDO:equivalentTo"} +xref: GARD:6322 {source="Orphanet:98249"} xref: ICD10CM:Q79.6 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/specific", source="Orphanet:98249/e"} xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014316 {source="Orphanet:98249", source="Orphanet:98249/e"} @@ -383226,8 +401120,10 @@ intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease id: MONDO:0020069 name: obsolete chronic encephalitis def: "OBSOLETE. Chronic form of encephalitis." [MONDO:patterns/chronic] +subset: gard_rare {source="GARD:19434"} subset: ordo_group_of_disorders {source="Orphanet:98255"} synonym: "encephalitis, chronic" EXACT [MONDO:patterns/chronic] +xref: GARD:19434 {source="MONDO:obsoleteEquivalent", source="Orphanet:98255"} xref: Orphanet:98255 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0006109 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -383242,7 +401138,9 @@ id: MONDO:0020070 name: neonatal epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping +subset: gard_rare {source="GARD:19435"} subset: ordo_group_of_disorders {source="Orphanet:98257"} +xref: GARD:19435 {source="Orphanet:98257"} xref: ICD10CM:G40.4 {source="Orphanet:98257", source="Orphanet:98257/attributed", source="Orphanet:98257/ntbt"} xref: Orphanet:98257 {source="MONDO:equivalentTo"} xref: UMLS:CN206974 {source="MONDO:equivalentTo"} @@ -383257,10 +401155,12 @@ name: infantile epilepsy syndrome def: "An epilepsy syndrome that occurs between 28 days to one year of life." [MONDO:design_pattern] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping +subset: gard_rare {source="GARD:19436"} subset: ordo_group_of_disorders {source="Orphanet:98258"} synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "infantile epilepsy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] +xref: GARD:19436 {source="Orphanet:98258"} xref: ICD10CM:G40.4 {source="Orphanet:98258/attributed", source="Orphanet:98258/ntbt", source="Orphanet:98258"} xref: Orphanet:98258 {source="MONDO:equivalentTo"} xref: UMLS:CN206975 {source="MONDO:equivalentTo"} @@ -383275,12 +401175,14 @@ name: childhood-onset epilepsy syndrome def: "A epilepsy syndrome that occurs during childhood." [MONDO:design_pattern] comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping +subset: gard_rare {source="GARD:19437"} subset: ordo_group_of_disorders {source="Orphanet:98259"} synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric epilepsy syndrome" EXACT OMO:0003005 [] synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +xref: GARD:19437 {source="Orphanet:98259"} xref: ICD10CM:G40.4 {source="Orphanet:98259", source="Orphanet:98259/attributed", source="Orphanet:98259/ntbt"} xref: Orphanet:98259 {source="MONDO:equivalentTo"} xref: UMLS:CN206976 {source="MONDO:equivalentTo"} @@ -383294,7 +401196,9 @@ id: MONDO:0020073 name: adolescent-onset epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping +subset: gard_rare {source="GARD:19438"} subset: ordo_group_of_disorders {source="Orphanet:98260"} +xref: GARD:19438 {source="Orphanet:98260"} xref: ICD10CM:G40.4 {source="Orphanet:98260", source="Orphanet:98260/attributed", source="Orphanet:98260/ntbt"} xref: Orphanet:98260 {source="MONDO:equivalentTo"} xref: UMLS:CN206977 {source="MONDO:equivalentTo"} @@ -383306,6 +401210,7 @@ id: MONDO:0020074 name: progressive myoclonus epilepsy def: "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." [NCIT:C7636] subset: disease_grouping +subset: gard_rare {source="GARD:7140"} subset: ordo_group_of_disorders {source="Orphanet:98261"} synonym: "epilepsy, progressive myoclonic" EXACT [OMIMPS:254800] synonym: "familial progressive myoclonic epilepsy" RELATED [GARD:0007140] @@ -383314,6 +401219,7 @@ synonym: "progressive myoclonic epilepsy" EXACT [DOID:891] synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891] synonym: "progressive myoclonus epilepsy" EXACT CLINGEN_PREFERRED [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261] xref: DOID:891 {source="MONDO:equivalentTo"} +xref: GARD:7140 {source="Orphanet:98261"} xref: MESH:D020191 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="Orphanet:98261"} xref: NCIT:C7636 {source="MONDO:equivalentTo", source="DOID:891"} xref: OMIMPS:254800 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -383332,11 +401238,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254800"} ! inheri id: MONDO:0020075 name: hereditary non-syndromic obesity subset: disease_grouping +subset: gard_rare {source="GARD:19439"} subset: ordo_group_of_disorders {source="Orphanet:98267"} synonym: "genetic isolated obesity" EXACT [] synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267] synonym: "monogenic isolated obesity" EXACT [] synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267] +xref: GARD:19439 {source="Orphanet:98267"} xref: Orphanet:98267 {source="MONDO:equivalentTo"} is_a: MONDO:0019182 {source="Orphanet:98267"} ! inherited obesity intersection_of: MONDO:0019182 ! inherited obesity @@ -383348,6 +401256,7 @@ id: MONDO:0020076 name: myeloproliferative neoplasm def: "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" [NCIT:C4345] subset: disease_grouping +subset: gard_rare {source="GARD:9319"} subset: ordo_group_of_disorders {source="Orphanet:98274"} synonym: "chronic myeloproliferative disease" EXACT [DOID:2226, NCIT:C4345] synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345] @@ -383366,6 +401275,7 @@ synonym: "myeloproliferative tumour" EXACT OMO:0003005 [] xref: DOID:2226 {source="MONDO:equivalentTo"} xref: EFO:0002428 {source="MONDO:equivalentTo"} xref: EFO:0004251 {source="DOID:4960", source="MONDO:equivalentTo"} +xref: GARD:9319 {source="Orphanet:98274"} xref: ICD10CM:D47.1 {source="DOID:2226"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9960/3 {source="NCIT:C4345"} @@ -383397,7 +401307,9 @@ id: MONDO:0020077 name: myelodysplastic/myeloproliferative disease def: "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." [MESH:D054437] subset: disease_grouping +subset: gard_rare {source="GARD:9351"} subset: ordo_group_of_disorders {source="Orphanet:98275"} +xref: GARD:9351 {source="Orphanet:98275"} xref: MESH:D054437 {source="Orphanet:98275/e", source="MONDO:equivalentTo", source="Orphanet:98275"} xref: Orphanet:98275 {source="MONDO:equivalentTo"} xref: UMLS:C1301355 {source="Orphanet:98275/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98275"} @@ -383408,12 +401320,13 @@ id: MONDO:0020078 name: obsolete acute myeloid leukemia with recurrent genetic anomaly def: "OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" [NCIT:C7175] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acute myeloid leukemia' -subset: gard_rare {source="GARD:0012758"} +subset: gard_rare {source="GARD:12758"} subset: ordo_group_of_disorders {source="Orphanet:98277"} synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT [NCIT:C7175] synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [NCIT:C7175] synonym: "AML with recurrent Genetic abnormalities" EXACT [NCIT:C7175] synonym: "AML with recurrent genetic anomaly" EXACT [Orphanet:98277] +xref: GARD:12758 {source="MONDO:obsoleteEquivalent", source="Orphanet:98277"} xref: NCIT:C7175 {source="MONDO:obsoleteEquivalent"} xref: ONCOTREE:AMLRGA {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98277 {source="MONDO:obsoleteEquivalent"} @@ -383439,6 +401352,8 @@ replaced_by: MONDO:0006247 [Term] id: MONDO:0020081 name: obsolete macrophage or histiocytic tumor +subset: gard_rare {source="GARD:19442"} +xref: GARD:19442 {source="MONDO:obsoleteEquivalent", source="Orphanet:98288"} xref: Orphanet:98288 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206983 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -383452,13 +401367,14 @@ id: MONDO:0020082 name: dendritic cell tumor def: "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." [https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor] subset: disease_grouping -subset: gard_rare {source="GARD:0008317"} +subset: gard_rare {source="GARD:8317"} subset: ordo_group_of_disorders {source="Orphanet:98289"} synonym: "Dendritic cell neoplasm" RELATED [GARD:0008317] synonym: "Dendritic cell sarcoma, NOS" NARROW [NCIT:C27260] synonym: "Dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, NOS" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, Not otherwise specified" NARROW [NCIT:C27260] +xref: GARD:8317 {source="Orphanet:98289"} xref: ICD10CM:C96.4 {source="Orphanet:98289", source="Orphanet:98289/e"} xref: NCIT:C27260 {source="MONDO:directSiblingOf"} xref: Orphanet:98289 {source="MONDO:equivalentTo"} @@ -383475,7 +401391,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8317/dendrit id: MONDO:0020083 name: immunodeficiency-associated lymphoproliferative disease subset: disease_grouping +subset: gard_rare {source="GARD:19443"} subset: ordo_group_of_disorders {source="Orphanet:98290"} +xref: GARD:19443 {source="Orphanet:98290"} xref: ICD10CM:D47.9 {source="Orphanet:98290", source="Orphanet:98290/ntbt"} xref: Orphanet:98290 {source="MONDO:equivalentTo"} xref: UMLS:CN206985 {source="MONDO:equivalentTo"} @@ -383484,6 +401402,8 @@ is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy [Term] id: MONDO:0020084 name: obsolete lymphoproliferative disease associated with primary immune disease +subset: gard_rare {source="GARD:16855"} +xref: GARD:16855 {source="MONDO:obsoleteEquivalent", source="Orphanet:98291"} xref: ICD10CM:D47.9 {source="Orphanet:98291", source="Orphanet:98291/ntbt"} xref: Orphanet:98291 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206986 {source="MONDO:obsoleteEquivalent"} @@ -383510,9 +401430,11 @@ id: MONDO:0020087 name: hereditary lipodystrophy def: "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:12597"} subset: ordo_group_of_disorders {source="Orphanet:98305"} synonym: "genetic lipodystrophy" EXACT [Orphanet:98305] synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic] +xref: GARD:12597 {source="Orphanet:98305"} xref: ICD10CM:E88.1 {source="Orphanet:98305/attributed", source="Orphanet:98305/ntbt", source="Orphanet:98305"} xref: Orphanet:98305 {source="MONDO:equivalentTo"} xref: SCTID:724841000 {source="MONDO:equivalentTo"} @@ -383526,6 +401448,7 @@ id: MONDO:0020088 name: familial partial lipodystrophy def: "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." [Orphanet:98306] subset: disease_grouping +subset: gard_rare {source="GARD:11962"} subset: ordo_group_of_disorders {source="Orphanet:98306"} synonym: "congenital partial lipodystrophy" EXACT [NCIT:C84708] synonym: "Dunnigan syndrome" RELATED EXCLUDE [DOID:0050440] @@ -383534,6 +401457,7 @@ synonym: "genetic partial lipodystrophy" EXACT [MONDO:patterns/genetic] synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440] synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660] xref: DOID:0050440 {source="MONDO:equivalentTo"} +xref: GARD:11962 {source="Orphanet:98306"} xref: ICD10CM:E88.1 {source="Orphanet:98306", source="Orphanet:98306/attributed", source="Orphanet:98306/ntbt"} xref: MESH:D052496 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="Orphanet:98306/e"} xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo"} @@ -383556,8 +401480,10 @@ id: MONDO:0020089 name: acquired lipodystrophy def: "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:12602"} subset: ordo_group_of_disorders {source="Orphanet:98307"} synonym: "acquired lipodystrophy (disease)" EXACT [MONDO:patterns/acquired] +xref: GARD:12602 {source="Orphanet:98307"} xref: ICD10CM:E88.1 {source="Orphanet:98307", source="Orphanet:98307/ntbt"} xref: MedDRA:10049287 {source="Orphanet:98307", source="Orphanet:98307/e"} xref: Orphanet:98307 {source="MONDO:equivalentTo"} @@ -383569,8 +401495,10 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0020090 name: obsolete male infertility due to gonadal dysgenesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:19445"} subset: ordo_group_of_disorders {source="Orphanet:98313"} synonym: "Male infertility due to testicular dysgenesis" EXACT [Orphanet:98313] +xref: GARD:19445 {source="Orphanet:98313", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -383581,8 +401509,10 @@ consider: MONDO:0005372 id: MONDO:0020091 name: obsolete male infertility due to obstructive azoospermia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' +subset: gard_rare {source="GARD:19446"} subset: ordo_group_of_disorders {source="Orphanet:98343"} synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343] +xref: GARD:19446 {source="MONDO:obsoleteEquivalent", source="Orphanet:98343"} xref: ICD10CM:N46 {source="Orphanet:98343/ntbt", source="Orphanet:98343"} xref: Orphanet:98343 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383607,8 +401537,10 @@ consider: MONDO:0005372 id: MONDO:0020093 name: obsolete autosomal dominant isolated diffuse palmoplantar keratoderma def: "OBSOLETE. Autosomal dominant form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_dominant] +subset: gard_rare {source="GARD:19447"} synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349] synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:19447 {source="MONDO:obsoleteEquivalent", source="Orphanet:98349"} xref: ICD10CM:Q82.8 {source="Orphanet:98349/attributed", source="Orphanet:98349/ntbt", source="Orphanet:98349"} xref: Orphanet:98349 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229268 {source="MONDO:obsoleteEquivalent"} @@ -383624,9 +401556,11 @@ id: MONDO:0020094 name: obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping +subset: gard_rare {source="GARD:19448"} subset: ordo_group_of_disorders {source="Orphanet:98352"} synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352] synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:19448 {source="MONDO:obsoleteEquivalent", source="Orphanet:98352"} xref: ICD10CM:Q82.8 {source="Orphanet:98352/attributed", source="Orphanet:98352/ntbt", source="Orphanet:98352"} xref: Orphanet:98352 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206998 {source="MONDO:obsoleteEquivalent"} @@ -383640,10 +401574,12 @@ id: MONDO:0020095 name: obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping +subset: gard_rare {source="GARD:19449"} subset: ordo_group_of_disorders {source="Orphanet:98353"} synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353] synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:19449 {source="MONDO:obsoleteEquivalent", source="Orphanet:98353"} xref: ICD10CM:Q82.8 {source="Orphanet:98353/attributed", source="Orphanet:98353/ntbt", source="Orphanet:98353"} xref: Orphanet:98353 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206999 {source="MONDO:obsoleteEquivalent"} @@ -383656,8 +401592,10 @@ is_obsolete: true id: MONDO:0020096 name: obsolete autosomal recessive isolated diffuse palmoplantar keratoderma def: "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_recessive] +subset: gard_rare {source="GARD:19450"} synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356] synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:19450 {source="Orphanet:98356", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="Orphanet:98356/attributed", source="Orphanet:98356/ntbt"} xref: Orphanet:98356 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229269 {source="MONDO:obsoleteEquivalent"} @@ -383673,9 +401611,11 @@ id: MONDO:0020097 name: obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_recessive] subset: disease_grouping +subset: gard_rare {source="GARD:19451"} subset: ordo_group_of_disorders {source="Orphanet:98357"} synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +xref: GARD:19451 {source="Orphanet:98357", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98357/attributed", source="Orphanet:98357/ntbt", source="Orphanet:98357"} xref: Orphanet:98357 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207000 {source="MONDO:obsoleteEquivalent"} @@ -383688,7 +401628,9 @@ is_obsolete: true id: MONDO:0020098 name: obsolete constitutional anemia due to iron metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited deficiency anemia' +subset: gard_rare {source="GARD:19452"} subset: ordo_group_of_disorders {source="Orphanet:98360"} +xref: GARD:19452 {source="MONDO:obsoleteEquivalent", source="Orphanet:98360"} xref: ICD10CM:D50.8 {source="Orphanet:98360/attributed", source="Orphanet:98360/ntbt", source="Orphanet:98360"} xref: Orphanet:98360 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227778 {source="MONDO:obsoleteEquivalent"} @@ -383702,9 +401644,11 @@ id: MONDO:0020099 name: inherited sideroblastic anemia comment: We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. subset: disease_grouping +subset: gard_rare {source="GARD:19453"} subset: ordo_group_of_disorders {source="Orphanet:98362"} synonym: "constitutional sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "constitutional sideroblastic anemia" EXACT [Orphanet:98362] +xref: GARD:19453 {source="Orphanet:98362"} xref: ICD10CM:D64.0 {source="Orphanet:98362/specific", source="Orphanet:98362/e", source="Orphanet:98362"} xref: OMIMPS:300751 {source="MONDO:equivalentTo"} xref: Orphanet:98362 {source="MONDO:equivalentTo"} @@ -383720,8 +401664,10 @@ id: MONDO:0020100 name: obsolete rare hemolytic anemia def: "OBSOLETE. Rare hemolytic anemia." [] subset: disease_grouping +subset: gard_rare {source="GARD:19454"} subset: ordo_group_of_disorders {source="Orphanet:98363"} synonym: "rare hemolytic anemia" EXACT [MONDO:patterns/rare] +xref: GARD:19454 {source="MONDO:obsoleteEquivalent", source="Orphanet:98363"} xref: Orphanet:98363 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0002878 {source="Orphanet:98363"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -383733,11 +401679,13 @@ id: MONDO:0020101 name: obsolete constitutional hemolytic anemia due to membrane defect def: "OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." [NCIT:C101218] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:19455"} subset: ordo_group_of_disorders {source="Orphanet:98364"} synonym: "anemia due to membrane defect" EXACT [NCIT:C101218] synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [NCIT:C101218] synonym: "hemolytic anemia due to membrane defect" EXACT [NCIT:C101218] synonym: "rare constitutional hemolytic anemia due to a red cell membrane anomaly" EXACT [] +xref: GARD:19455 {source="MONDO:obsoleteEquivalent", source="Orphanet:98364"} xref: NCIT:C101218 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98364 {source="MONDO:obsoleteEquivalent"} xref: SCTID:111575000 {source="MONDO:obsoleteEquivalent"} @@ -383751,8 +401699,10 @@ consider: MONDO:0003664 id: MONDO:0020102 name: hereditary stomatocytosis subset: disease_grouping +subset: gard_rare {source="GARD:19456"} subset: ordo_group_of_disorders {source="Orphanet:98365"} synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365] +xref: GARD:19456 {source="Orphanet:98365"} xref: ICD10CM:D58.8 {source="Orphanet:98365/specific", source="Orphanet:98365/e", source="Orphanet:98365"} xref: ICD9:282.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98365 {source="MONDO:equivalentTo"} @@ -383764,8 +401714,10 @@ is_a: MONDO:0003664 {source="Orphanet:98365"} ! hemolytic anemia id: MONDO:0020103 name: obsolete constitutional hemolytic anemia due to acanthocytosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:19457"} subset: ordo_group_of_disorders {source="Orphanet:98366"} synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366] +xref: GARD:19457 {source="Orphanet:98366", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.6 {source="Orphanet:98366", source="Orphanet:98366/index", source="Orphanet:98366/ntbt"} xref: Orphanet:98366 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0687751 {source="Orphanet:98366", source="MONDO:notFoundInDiseaseSubset"} @@ -383778,7 +401730,9 @@ consider: MONDO:0003664 id: MONDO:0020104 name: obsolete rare constitutional hemolytic anemia due to an enzyme disorder subset: disease_grouping +subset: gard_rare {source="GARD:19458"} subset: ordo_group_of_disorders {source="Orphanet:98369"} +xref: GARD:19458 {source="Orphanet:98369", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D55.0 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} xref: ICD10CM:D55.1 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} xref: ICD10CM:D55.2 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} @@ -383796,7 +401750,9 @@ is_obsolete: true id: MONDO:0020105 name: obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:19459"} subset: ordo_group_of_disorders {source="Orphanet:98370"} +xref: GARD:19459 {source="MONDO:obsoleteEquivalent", source="Orphanet:98370"} xref: ICD10CM:D55.1 {source="Orphanet:98370/specific", source="Orphanet:98370", source="Orphanet:98370/e"} xref: Orphanet:98370 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383808,7 +401764,9 @@ consider: MONDO:0003664 id: MONDO:0020106 name: obsolete hemolytic anemia due to a disorder of glycolytic enzymes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:19460"} subset: ordo_group_of_disorders {source="Orphanet:98372"} +xref: GARD:19460 {source="MONDO:obsoleteEquivalent", source="Orphanet:98372"} xref: ICD10CM:D55.2 {source="Orphanet:98372/e", source="Orphanet:98372/specific", source="Orphanet:98372"} xref: Orphanet:98372 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227783 {source="MONDO:obsoleteEquivalent"} @@ -383821,8 +401779,10 @@ consider: MONDO:0003664 id: MONDO:0020107 name: obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' +subset: gard_rare {source="GARD:19461"} subset: ordo_group_of_disorders {source="Orphanet:98374"} synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374] +xref: GARD:19461 {source="MONDO:obsoleteEquivalent", source="Orphanet:98374"} xref: ICD10CM:D55.3 {source="Orphanet:98374/e", source="Orphanet:98374/specific", source="Orphanet:98374"} xref: Orphanet:98374 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227784 {source="MONDO:obsoleteEquivalent"} @@ -383836,6 +401796,7 @@ id: MONDO:0020108 name: autoimmune hemolytic anemia def: "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." [Orphanet:98375] subset: disease_grouping +subset: gard_rare {source="GARD:5870"} subset: ordo_group_of_disorders {source="Orphanet:98375"} synonym: "acquired autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "acquired autoimmune hemolytic anemia" RELATED [GARD:0005870] @@ -383856,6 +401817,7 @@ synonym: "immuno-hemolytic anemia" RELATED [GARD:0005870] xref: CSP:0427-1178 {source="DOID:718"} xref: DOID:718 {source="MONDO:equivalentTo"} xref: EFO:1001264 {source="MONDO:equivalentTo"} +xref: GARD:5870 {source="Orphanet:98375"} xref: ICD10CM:D59.0 {source="Orphanet:98375/ntbt", source="Orphanet:98375"} xref: ICD10CM:D59.1 {source="Orphanet:98375/ntbt", source="Orphanet:98375"} xref: ICD9:283.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:718"} @@ -383880,7 +401842,9 @@ relationship: excluded_subClassOf MONDO:0015911 {source="Orphanet:98375"} ! obso id: MONDO:0020109 name: obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia' +subset: gard_rare {source="GARD:19462"} subset: ordo_group_of_disorders {source="Orphanet:98396"} +xref: GARD:19462 {source="MONDO:obsoleteEquivalent", source="Orphanet:98396"} xref: ICD10CM:D51.0 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} xref: ICD10CM:D51.1 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} xref: ICD10CM:D51.2 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} @@ -383898,11 +401862,13 @@ consider: HP:0001889 id: MONDO:0020110 name: pulmonary agenesis def: "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." [NCIT:C99028] +subset: gard_rare {source="GARD:9119"} subset: ordo_morphological_anomaly {source="Orphanet:984"} synonym: "congenital absence of lung" EXACT [NCIT:C99028] synonym: "congenital lung agenesis" RELATED [GARD:0009119] synonym: "unilateral lobar pulmonary agenesis" RELATED [GARD:0009119] synonym: "unilateral lung agenesis" RELATED [GARD:0009119] +xref: GARD:9119 {source="Orphanet:984"} xref: ICD10CM:Q33.3 {source="Orphanet:984", source="Orphanet:984/e"} xref: ICD9:748.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037322 {source="Orphanet:984", source="Orphanet:984/e"} @@ -383920,7 +401886,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020111 name: obsolete constitutional megaloblastic anemia due to folate metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia' +subset: gard_rare {source="GARD:19463"} subset: ordo_group_of_disorders {source="Orphanet:98408"} +xref: GARD:19463 {source="MONDO:obsoleteEquivalent", source="Orphanet:98408"} xref: ICD10CM:D52.8 {source="Orphanet:98408", source="Orphanet:98408/attributed", source="Orphanet:98408/ntbt"} xref: Orphanet:98408 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227786 {source="MONDO:obsoleteEquivalent"} @@ -383933,7 +401901,9 @@ consider: HP:0001889 id: MONDO:0020112 name: vitamin B12- and folate-independent constitutional megaloblastic anemia subset: disease_grouping +subset: gard_rare {source="GARD:19464"} subset: ordo_group_of_disorders {source="Orphanet:98415"} +xref: GARD:19464 {source="Orphanet:98415"} xref: ICD10CM:D53.0 {source="Orphanet:98415/ntbt", source="MONDO:relatedTo", source="Orphanet:98415/inclusion", source="Orphanet:98415"} xref: ICD10CM:D53.1 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} xref: ICD10CM:D53.2 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} @@ -383947,9 +401917,11 @@ is_a: MONDO:0016624 {source="Orphanet:98415"} ! inherited deficiency anemia id: MONDO:0020113 name: primary acquired red cell aplasia subset: disease_grouping +subset: gard_rare {source="GARD:19465"} subset: ordo_group_of_disorders {source="Orphanet:98421"} synonym: "primary autoimmune red cell aplasia" EXACT [Orphanet:98421] synonym: "red cell aplasia" BROAD [ICD9:284.81] +xref: GARD:19465 {source="Orphanet:98421"} xref: ICD10CM:D60.0 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} xref: ICD10CM:D60.1 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} xref: ICD10CM:D60.8 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} @@ -383971,9 +401943,11 @@ id: MONDO:0020115 name: secondary polycythemia def: "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." [Orphanet:98428] subset: disease_grouping +subset: gard_rare {source="GARD:19467"} subset: ordo_group_of_disorders {source="Orphanet:98428"} synonym: "secondary erythrocytosis" EXACT [Orphanet:98428] synonym: "secondary polycythemia" EXACT [NCIT:C27178] +xref: GARD:19467 {source="Orphanet:98428"} xref: ICD10CM:D75.1 {source="Orphanet:98428", source="Orphanet:98428/specific", source="Orphanet:98428/e"} xref: MedDRA:10036062 {source="Orphanet:98428", source="Orphanet:98428/e"} xref: NCIT:C27178 {source="MONDO:equivalentTo"} @@ -383987,9 +401961,11 @@ id: MONDO:0020116 name: obsolete rare blood coagulation disease def: "OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19468"} subset: ordo_group_of_disorders {source="Orphanet:98429"} synonym: "rare blood coagulation disease" EXACT [MONDO:patterns/rare] synonym: "rare coagulation disorder" RELATED [Orphanet:98429] +xref: GARD:19468 {source="MONDO:obsoleteEquivalent", source="Orphanet:98429"} xref: Orphanet:98429 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0005779 {source="Orphanet:98429"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -384000,7 +401976,9 @@ replaced_by: MONDO:0001531 id: MONDO:0020117 name: alpha granule disease subset: disease_grouping +subset: gard_rare {source="GARD:19469"} subset: ordo_group_of_disorders {source="Orphanet:98455"} +xref: GARD:19469 {source="Orphanet:98455"} xref: ICD10CM:D69.1 {source="Orphanet:98455", source="Orphanet:98455/attributed", source="Orphanet:98455/ntbt"} xref: Orphanet:98455 {source="MONDO:equivalentTo"} xref: UMLS:CN207009 {source="MONDO:equivalentTo"} @@ -384014,7 +401992,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020118 name: obsolete dense granule disease +subset: gard_rare {source="GARD:19470"} synonym: "Delta granule disease" EXACT [Orphanet:98456] +xref: GARD:19470 {source="Orphanet:98456", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.1 {source="Orphanet:98456/attributed", source="Orphanet:98456/ntbt", source="Orphanet:98456"} xref: Orphanet:98456 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207010 {source="MONDO:obsoleteEquivalent"} @@ -384052,12 +402032,14 @@ id: MONDO:0020120 name: skeletal muscle disorder def: "A disease involving the skeletal muscle tissue." [MONDO:patterns/location_top] subset: disease_grouping +subset: gard_rare {source="GARD:19471"} subset: ordo_group_of_disorders {source="Orphanet:98472"} synonym: "disease of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of skeletal muscle tissue" EXACT [] synonym: "disorder of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location] synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] +xref: GARD:19471 {source="Orphanet:98472"} xref: MedDRA:10028641 {source="Orphanet:98472/e", source="Orphanet:98472"} xref: MESH:D009135 {source="MONDO:relatedTo", source="Orphanet:98472/e", source="Orphanet:98472"} xref: Orphanet:206634 {source="MONDO:mondoIsBroaderThanSource"} @@ -384074,9 +402056,10 @@ id: MONDO:0020121 name: muscular dystrophy def: "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." [https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy] subset: disease_grouping -subset: gard_rare {source="GARD:0007922"} +subset: gard_rare {source="GARD:7922"} subset: ordo_group_of_disorders {source="Orphanet:98473"} xref: DOID:9884 {source="MONDO:equivalentTo"} +xref: GARD:7922 {source="Orphanet:98473"} xref: ICD10CM:G71.0 {source="Orphanet:98473/e", source="Orphanet:98473/specific", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} xref: ICD9:359.1 {source="DOID:9884"} xref: MedDRA:10028356 {source="Orphanet:98473/e", source="Orphanet:98473"} @@ -384104,12 +402087,14 @@ id: MONDO:0020122 name: acquired idiopathic inflammatory myopathy def: "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." [NCIT:C116796] subset: disease_grouping +subset: gard_rare {source="GARD:9128"} subset: ordo_group_of_disorders {source="Orphanet:98482"} synonym: "idiopathic inflammatory myopathies" EXACT [NCIT:C116796] synonym: "idiopathic inflammatory myopathy, familial" RELATED [GARD:0009128] synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482] synonym: "IIm" EXACT [NCIT:C116796] synonym: "IMM" EXACT ABBREVIATION [Orphanet:98482] +xref: GARD:9128 {source="Orphanet:98482"} xref: ICD9:359.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116796 xref: Orphanet:98482 {source="MONDO:equivalentTo"} @@ -384124,7 +402109,9 @@ id: MONDO:0020123 name: metabolic myopathy def: "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." [NCIT:C98985] subset: disease_grouping +subset: gard_rare {source="GARD:19472"} subset: ordo_group_of_disorders {source="Orphanet:98486"} +xref: GARD:19472 {source="Orphanet:98486"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068836 {source="Orphanet:98486/e", source="Orphanet:98486"} xref: NCIT:C98985 {source="MONDO:equivalentTo"} @@ -384138,8 +402125,10 @@ id: MONDO:0020124 name: neuromuscular junction disease def: "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." [MESH:D020511] subset: disease_grouping +subset: gard_rare {source="GARD:19473"} subset: ordo_group_of_disorders {source="Orphanet:98491"} xref: DOID:439 {source="MONDO:equivalentTo"} +xref: GARD:19473 {source="Orphanet:98491"} xref: ICD10CM:G70.0 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} xref: ICD10CM:G70.1 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} xref: ICD10CM:G70.2 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} @@ -384158,7 +402147,9 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0031594 ! neuromuscular id: MONDO:0020125 name: obsolete acquired neuromuscular junction disease def: "OBSOLETE. An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +subset: gard_rare {source="GARD:19474"} synonym: "acquired neuromuscular junction disease" EXACT [MONDO:patterns/acquired] +xref: GARD:19474 {source="MONDO:obsoleteEquivalent", source="Orphanet:98494"} xref: Orphanet:98494 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207015 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384171,8 +402162,10 @@ id: MONDO:0020126 name: obsolete rare peripheral neuropathy def: "OBSOLETE. Rare peripheral neuropathy." [] subset: disease_grouping +subset: gard_rare {source="GARD:19476"} subset: ordo_group_of_disorders {source="Orphanet:98496"} synonym: "rare peripheral neuropathy" EXACT [MONDO:patterns/rare] +xref: GARD:19476 {source="MONDO:obsoleteEquivalent", source="Orphanet:98496"} xref: Orphanet:98496 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0031117 {source="Orphanet:98496"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -384185,8 +402178,10 @@ name: hereditary peripheral neuropathy def: "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." [] subset: clingen subset: disease_grouping +subset: gard_rare {source="GARD:10711"} subset: ordo_group_of_disorders {source="Orphanet:98497"} synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic] +xref: GARD:10711 {source="Orphanet:98497"} xref: Orphanet:98497 {source="MONDO:equivalentTo"} is_a: MONDO:0005244 {source="MONDO:Redundant", source="Orphanet:98497"} ! peripheral neuropathy intersection_of: MONDO:0005244 ! peripheral neuropathy @@ -384199,6 +402194,7 @@ id: MONDO:0020128 name: motor neuron disorder def: "A disease involving the motor neuron." [MONDO:patterns/location_top] subset: disease_grouping +subset: gard_rare {source="GARD:19477"} subset: ordo_group_of_disorders {source="Orphanet:98503"} synonym: "anterior horn cell disease" EXACT [Orphanet:98503] synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top] @@ -384208,6 +402204,7 @@ synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location] synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"} xref: EFO:0003782 {source="MONDO:equivalentTo"} +xref: GARD:19477 {source="Orphanet:98503"} xref: ICD10CM:G12.2 {source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"} xref: ICD10CM:G12.20 {source="DOID:231"} xref: ICD9:335.2 {source="EFO:0003782", source="DOID:231"} @@ -384233,9 +402230,11 @@ id: MONDO:0020129 name: acquired motor neuron disease def: "An instance of motor neuron disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping +subset: gard_rare {source="GARD:19479"} subset: ordo_group_of_disorders {source="Orphanet:98506"} synonym: "acquired anterior horn cell disease" EXACT [Orphanet:98506] synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired] +xref: GARD:19479 {source="Orphanet:98506"} xref: Orphanet:98506 {source="MONDO:equivalentTo"} xref: UMLS:CN207019 {source="MONDO:equivalentTo"} is_a: MONDO:0020128 {source="MONDO:Redundant", source="Orphanet:98506"} ! motor neuron disorder @@ -384245,6 +402244,8 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0020130 name: obsolete malformation of the cerebellar vermis +subset: gard_rare {source="GARD:19480"} +xref: GARD:19480 {source="MONDO:obsoleteEquivalent", source="Orphanet:98514"} xref: Orphanet:98514 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384255,6 +402256,8 @@ is_obsolete: true [Term] id: MONDO:0020131 name: obsolete malformation of the cerebellar hemispheres +subset: gard_rare {source="GARD:19481"} +xref: GARD:19481 {source="MONDO:obsoleteEquivalent", source="Orphanet:98516"} xref: ICD10CM:Q04.3 {source="Orphanet:98516", source="Orphanet:98516/ntbt"} xref: Orphanet:98516 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384266,6 +402269,8 @@ is_obsolete: true [Term] id: MONDO:0020132 name: obsolete cranial nerve and nuclear aplasia +subset: gard_rare {source="GARD:19482"} +xref: GARD:19482 {source="MONDO:obsoleteEquivalent", source="Orphanet:98518"} xref: Orphanet:98518 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98518"} ! obsolete non-syndromic central nervous system malformation property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384277,6 +402282,8 @@ is_obsolete: true [Term] id: MONDO:0020133 name: obsolete posterior fossa malformation +subset: gard_rare {source="GARD:19483"} +xref: GARD:19483 {source="MONDO:obsoleteEquivalent", source="Orphanet:98519"} xref: Orphanet:98519 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98519"} ! obsolete non-syndromic central nervous system malformation property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384303,7 +402310,7 @@ id: MONDO:0020135 name: pontocerebellar hypoplasia def: "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." [Orphanet:98523] subset: disease_grouping -subset: gard_rare {source="GARD:0010977"} +subset: gard_rare {source="GARD:10977"} subset: ordo_group_of_disorders {source="Orphanet:98523"} synonym: "isolated pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165, Orphanet:98523] @@ -384312,6 +402319,7 @@ synonym: "pontocerebellar hypoplasia" EXACT CLINGEN_PREFERRED [MONDO:0000730] synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523] synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523] xref: DOID:0060264 {source="MONDO:equivalentTo"} +xref: GARD:10977 {source="Orphanet:98523"} xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="Orphanet:98523/attributed", source="Orphanet:98523/ntbt"} xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo"} xref: OMIMPS:607596 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -384332,7 +402340,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10977/pontoc id: MONDO:0020136 name: obsolete neurodegenerative disease with dementia subset: disease_grouping +subset: gard_rare {source="GARD:19484"} subset: ordo_group_of_disorders {source="Orphanet:98534"} +xref: GARD:19484 {source="Orphanet:98534", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98534 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207020 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1498" xsd:anyURI @@ -384343,7 +402353,9 @@ consider: MONDO:0005559 id: MONDO:0020137 name: obsolete frontotemporal degeneration with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' +subset: gard_rare {source="GARD:19485"} subset: ordo_group_of_disorders {source="Orphanet:98535"} +xref: GARD:19485 {source="MONDO:obsoleteEquivalent", source="Orphanet:98535"} xref: ICD10CM:G31.0 {source="Orphanet:98535/ntbt", source="Orphanet:98535"} xref: Orphanet:98535 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -384355,7 +402367,9 @@ consider: MONDO:0005559 id: MONDO:0020138 name: obsolete ataxia with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001251 Ataxia +subset: gard_rare {source="GARD:19486"} subset: ordo_group_of_disorders {source="Orphanet:98538"} +xref: GARD:19486 {source="MONDO:obsoleteEquivalent", source="Orphanet:98538"} xref: Orphanet:98538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -384366,7 +402380,9 @@ consider: HP:0001251 id: MONDO:0020139 name: obsolete early-onset ataxia with dementia subset: disease_grouping +subset: gard_rare {source="GARD:19487"} subset: ordo_group_of_disorders {source="Orphanet:98539"} +xref: GARD:19487 {source="MONDO:obsoleteEquivalent", source="Orphanet:98539"} xref: Orphanet:98539 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -384374,7 +402390,9 @@ is_obsolete: true id: MONDO:0020140 name: obsolete late-onset ataxia with dementia subset: disease_grouping +subset: gard_rare {source="GARD:19488"} subset: ordo_group_of_disorders {source="Orphanet:98540"} +xref: GARD:19488 {source="MONDO:obsoleteEquivalent", source="Orphanet:98540"} xref: Orphanet:98540 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -384383,7 +402401,9 @@ id: MONDO:0020141 name: obsolete infectious disease with dementia comment: Dementia should be a feature, not a superclass. subset: disease_grouping +subset: gard_rare {source="GARD:19489"} subset: ordo_group_of_disorders {source="Orphanet:98542"} +xref: GARD:19489 {source="Orphanet:98542", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98542 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207022 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI @@ -384394,7 +402414,9 @@ consider: MONDO:0005550 id: MONDO:0020142 name: obsolete metabolic disease with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease +subset: gard_rare {source="GARD:19490"} subset: ordo_group_of_disorders {source="Orphanet:98543"} +xref: GARD:19490 {source="Orphanet:98543", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98543 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -384406,9 +402428,11 @@ consider: MONDO:0005066 id: MONDO:0020143 name: cerebral lipidosis with dementia subset: disease_grouping +subset: gard_rare {source="GARD:19491"} subset: ordo_group_of_disorders {source="Orphanet:98544"} synonym: "cerebral lipidosis" EXACT [MONDO:0001107] xref: DOID:10742 {source="MONDO:equivalentTo"} +xref: GARD:19491 {source="Orphanet:98544"} xref: ICD9:330.1 {source="DOID:10742", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:98544 {source="MONDO:equivalentTo"} xref: SCTID:16517004 {source="DOID:10742", source="MONDO:equivalentTo"} @@ -384422,7 +402446,9 @@ is_a: MONDO:0019245 ! lysosomal lipid storage disorder [Term] id: MONDO:0020144 name: obsolete cerebrovascular dementia +subset: gard_rare {source="GARD:19492"} synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549] +xref: GARD:19492 {source="MONDO:obsoleteEquivalent", source="Orphanet:98549"} xref: Orphanet:98549 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384432,6 +402458,8 @@ is_obsolete: true [Term] id: MONDO:0020145 name: obsolete developmental defect of the eye +subset: gard_rare {source="GARD:16857"} +xref: GARD:16857 {source="Orphanet:98553", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:98553 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384453,6 +402481,8 @@ is_obsolete: true [Term] id: MONDO:0020147 name: obsolete anophthalmia-microphthalmia syndrome +subset: gard_rare {source="GARD:19493"} +xref: GARD:19493 {source="Orphanet:98555", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q11.0 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} xref: ICD10CM:Q11.1 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} xref: ICD10CM:Q11.2 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} @@ -384468,8 +402498,10 @@ is_obsolete: true id: MONDO:0020148 name: obsolete syndromic aniridia def: "OBSOLETE. A aniridia that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19494"} synonym: "syndrome associated with aniridia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic aniridia" EXACT [MONDO:patterns/syndromic] +xref: GARD:19494 {source="MONDO:obsoleteEquivalent", source="Orphanet:98557"} xref: Orphanet:98557 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227798 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384507,7 +402539,9 @@ is_obsolete: true id: MONDO:0020151 name: obsolete rare palpebral disease def: "OBSOLETE. Any of the forms of eyelid disease that have a rare incidence." [MONDO:patterns/rare] +subset: gard_rare {source="GARD:19495"} synonym: "rare eyelid disease" EXACT [MONDO:patterns/rare] +xref: GARD:19495 {source="MONDO:obsoleteEquivalent", source="Orphanet:98560"} xref: Orphanet:98560 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0015423 {source="Orphanet:98560"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -384518,8 +402552,10 @@ replaced_by: MONDO:0003382 id: MONDO:0020152 name: obsolete rare eyelid malformation subset: disease_grouping +subset: gard_rare {source="GARD:19496"} subset: ordo_group_of_disorders {source="Orphanet:98561"} synonym: "eyelid malformation" RELATED [Orphanet:98561] +xref: GARD:19496 {source="MONDO:obsoleteEquivalent", source="Orphanet:98561"} xref: Orphanet:98561 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -384531,9 +402567,11 @@ id: MONDO:0020153 name: cryptophthalmia def: "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." [NCIT:C124520] subset: disease_grouping +subset: gard_rare {source="GARD:10505"} subset: ordo_group_of_disorders {source="Orphanet:98562"} synonym: "cryptophthalmos" EXACT [NCIT:C124520] xref: DOID:0111716 {source="MONDO:equivalentTo"} +xref: GARD:10505 {source="Orphanet:98562"} xref: ICD9:743.06 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C124520 {source="MONDO:equivalentTo"} xref: Orphanet:98562 {source="MONDO:equivalentTo"} @@ -384544,6 +402582,8 @@ is_a: MONDO:0003382 {source="MONDO:0020152-obsoleted"} ! eyelid disorder [Term] id: MONDO:0020154 name: obsolete microblepharon-ablephara syndrome +subset: gard_rare {source="GARD:19497"} +xref: GARD:19497 {source="MONDO:obsoleteEquivalent", source="Orphanet:98563"} xref: ICD10CM:Q10.3 {source="Orphanet:98563/attributed", source="Orphanet:98563/ntbt", source="Orphanet:98563"} xref: Orphanet:98563 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN237783 {source="MONDO:obsoleteEquivalent"} @@ -384555,6 +402595,8 @@ is_obsolete: true [Term] id: MONDO:0020155 name: obsolete eyelid border anomaly +subset: gard_rare {source="GARD:19498"} +xref: GARD:19498 {source="Orphanet:98564", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384564,6 +402606,8 @@ is_obsolete: true [Term] id: MONDO:0020156 name: obsolete syndromic ankyloblepharon +subset: gard_rare {source="GARD:19499"} +xref: GARD:19499 {source="Orphanet:98565", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98565 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227801 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384574,6 +402618,8 @@ is_obsolete: true [Term] id: MONDO:0020157 name: obsolete syndromic palpebral coloboma +subset: gard_rare {source="GARD:19500"} +xref: GARD:19500 {source="Orphanet:98566", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98566 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227802 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384585,6 +402631,8 @@ is_obsolete: true [Term] id: MONDO:0020158 name: obsolete eyelids malposition disorder +subset: gard_rare {source="GARD:19501"} +xref: GARD:19501 {source="Orphanet:98567", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98567 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227803 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384620,7 +402668,9 @@ is_obsolete: true id: MONDO:0020161 name: congenital ectropion subset: disease_grouping +subset: gard_rare {source="GARD:19502"} subset: ordo_group_of_disorders {source="Orphanet:98570"} +xref: GARD:19502 {source="Orphanet:98570"} xref: ICD10CM:Q10.1 {source="Orphanet:98570/e", source="Orphanet:98570/specific", source="MONDO:equivalentTo", source="Orphanet:98570"} xref: Orphanet:98570 {source="MONDO:equivalentTo"} xref: SCTID:26590002 {source="MONDO:equivalentTo"} @@ -384632,6 +402682,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020162 name: obsolete secondary ectropion +subset: gard_rare {source="GARD:19503"} +xref: GARD:19503 {source="MONDO:obsoleteEquivalent", source="Orphanet:98571"} xref: ICD10CM:H02.1 {source="Orphanet:98571/attributed", source="Orphanet:98571/ntbt", source="Orphanet:98571"} xref: Orphanet:98571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384661,6 +402713,8 @@ is_obsolete: true [Term] id: MONDO:0020165 name: obsolete syndromic epicanthus +subset: gard_rare {source="GARD:19504"} +xref: GARD:19504 {source="MONDO:obsoleteEquivalent", source="Orphanet:98574"} xref: Orphanet:98574 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384678,6 +402732,8 @@ replaced_by: MONDO:0008537 [Term] id: MONDO:0020167 name: obsolete malposition of external canthus +subset: gard_rare {source="GARD:19506"} +xref: GARD:19506 {source="Orphanet:98576", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10.3 {source="Orphanet:98576", source="Orphanet:98576/attributed", source="Orphanet:98576/ntbt"} xref: Orphanet:98576 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384697,7 +402753,9 @@ consider: MONDO:0003382 id: MONDO:0020169 name: obsolete rare disorder with ptosis subset: disease_grouping +subset: gard_rare {source="GARD:19507"} subset: ordo_group_of_disorders {source="Orphanet:98578"} +xref: GARD:19507 {source="Orphanet:98578", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98578 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0005745 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"} xref: UMLS:C0033377 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"} @@ -384908,7 +402966,9 @@ id: MONDO:0020184 name: obsolete rare eyebrow/eyelashes anomaly comment: Editor note: does not align with anatomy subset: disease_grouping +subset: gard_rare {source="GARD:19508"} subset: ordo_group_of_disorders {source="Orphanet:98594"} +xref: GARD:19508 {source="MONDO:obsoleteEquivalent", source="Orphanet:98594"} xref: Orphanet:98594 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227808 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI @@ -384995,8 +403055,10 @@ id: MONDO:0020192 name: obsolete rare lacrimal system disease def: "OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping +subset: gard_rare {source="GARD:19509"} subset: ordo_group_of_disorders {source="Orphanet:98602"} synonym: "rare lacrimal apparatus disease" EXACT [MONDO:patterns/rare] +xref: GARD:19509 {source="MONDO:obsoleteEquivalent", source="Orphanet:98602"} xref: Orphanet:98602 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0022904 {source="Orphanet:98602"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -385018,6 +403080,8 @@ is_obsolete: true [Term] id: MONDO:0020194 name: obsolete congenital alacrima +subset: gard_rare {source="GARD:19510"} +xref: GARD:19510 {source="MONDO:obsoleteEquivalent", source="Orphanet:98604"} xref: Orphanet:98604 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1863199 {source="Orphanet:98604", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385029,6 +403093,8 @@ is_obsolete: true [Term] id: MONDO:0020195 name: obsolete excretory apparatus of the lacrimal system anomaly +subset: gard_rare {source="GARD:19511"} +xref: GARD:19511 {source="MONDO:obsoleteEquivalent", source="Orphanet:98605"} xref: Orphanet:98605 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -385047,7 +403113,9 @@ is_obsolete: true [Term] id: MONDO:0020197 name: obsolete EEC syndrome and related syndrome +subset: gard_rare {source="GARD:19512"} synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [Orphanet:98609] +xref: GARD:19512 {source="MONDO:obsoleteEquivalent", source="Orphanet:98609"} xref: Orphanet:98609 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207046 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385062,7 +403130,9 @@ is_obsolete: true id: MONDO:0020198 name: obsolete rare conjunctival disease def: "OBSOLETE. Rare conjunctival disease." [] +subset: gard_rare {source="GARD:19513"} synonym: "rare conjunctival disease" EXACT [MONDO:patterns/rare] +xref: GARD:19513 {source="Orphanet:98610", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98610 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0009759 {source="Orphanet:98610"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -385162,7 +403232,9 @@ is_obsolete: true id: MONDO:0020206 name: obsolete rare refraction anomaly subset: disease_grouping +subset: gard_rare {source="GARD:19514"} subset: ordo_group_of_disorders {source="Orphanet:98618"} +xref: GARD:19514 {source="MONDO:obsoleteEquivalent", source="Orphanet:98618"} xref: Orphanet:98618 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0034951 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98618"} property_value: IAO:0000231 OMO:0001000 @@ -385174,7 +403246,9 @@ is_obsolete: true id: MONDO:0020207 name: obsolete rare isolated myopia def: "OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." [Orphanet:98619] +subset: gard_rare {source="GARD:16859"} subset: ordo_disease {source="Orphanet:98619"} +xref: GARD:16859 {source="MONDO:obsoleteEquivalent", source="Orphanet:98619"} xref: Orphanet:98619 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0027092 {source="MONDO:relatedTo", source="Orphanet:98619"} xref: UMLS:CN924920 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} @@ -385200,7 +403274,9 @@ consider: MONDO:0001384 id: MONDO:0020209 name: obsolete rare hyperopia and astigmatism subset: disease_grouping +subset: gard_rare {source="GARD:19515"} subset: ordo_group_of_disorders {source="Orphanet:98621"} +xref: GARD:19515 {source="Orphanet:98621", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98621 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227819 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385212,8 +403288,10 @@ is_obsolete: true id: MONDO:0020210 name: obsolete syndromic hyperopia def: "OBSOLETE. A hyperopia that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19516"} synonym: "syndrome associated with hyperopia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hyperopia" EXACT [MONDO:patterns/syndromic] +xref: GARD:19516 {source="Orphanet:98622", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98622 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227820 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385226,8 +403304,10 @@ is_obsolete: true id: MONDO:0020211 name: obsolete syndromic keratoconus def: "OBSOLETE. A keratoconus (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19517"} synonym: "syndrome associated with keratoconus (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic keratoconus (disease)" EXACT [MONDO:patterns/syndromic] +xref: GARD:19517 {source="MONDO:obsoleteEquivalent", source="Orphanet:98623"} xref: Orphanet:98623 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227821 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385242,10 +403322,12 @@ id: MONDO:0020212 name: superficial corneal dystrophy def: "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98625] subset: disease_grouping +subset: gard_rare {source="GARD:19518"} subset: ordo_group_of_disorders {source="Orphanet:98625"} synonym: "anterior corneal dystrophy" EXACT [Orphanet:98625] synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location] synonym: "dystrophy of anterior cornea" EXACT [] +xref: GARD:19518 {source="Orphanet:98625"} xref: ICD10CM:H18.5 {source="Orphanet:98625", source="Orphanet:98625/attributed", source="Orphanet:98625/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98625 {source="MONDO:equivalentTo"} @@ -385258,12 +403340,14 @@ id: MONDO:0020213 name: stromal corneal dystrophy def: "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98626] subset: disease_grouping +subset: gard_rare {source="GARD:19519"} subset: ordo_group_of_disorders {source="Orphanet:98626"} synonym: "corneal dystrophy (disease) of substantia propria of cornea" EXACT [] synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765] synonym: "stromal dystrophy" RELATED [DOID:0060442] synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location] xref: DOID:0060442 {source="MONDO:equivalentTo"} +xref: GARD:19519 {source="Orphanet:98626"} xref: ICD10CM:H18.5 {source="Orphanet:98626", source="Orphanet:98626/attributed", source="Orphanet:98626/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98626 {source="MONDO:equivalentTo"} @@ -385278,7 +403362,9 @@ id: MONDO:0020214 name: posterior corneal dystrophy def: "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." [Orphanet:98627] subset: disease_grouping +subset: gard_rare {source="GARD:19520"} subset: ordo_group_of_disorders {source="Orphanet:98627"} +xref: GARD:19520 {source="Orphanet:98627"} xref: ICD10CM:H18.5 {source="Orphanet:98627", source="Orphanet:98627/attributed", source="Orphanet:98627/ntbt"} xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98627 {source="MONDO:equivalentTo"} @@ -385292,8 +403378,10 @@ relationship: disease_has_location UBERON:0004367 ! Descemet's membrane id: MONDO:0020215 name: obsolete syndromic corneal dystrophy def: "OBSOLETE. A corneal dystrophy (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19521"} synonym: "syndrome associated with corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] +xref: GARD:19521 {source="MONDO:obsoleteEquivalent", source="Orphanet:98628"} xref: Orphanet:98628 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227823 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385306,7 +403394,9 @@ is_obsolete: true id: MONDO:0020216 name: obsolete secondary dysgenetic glaucoma def: "OBSOLETE. A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." [http://dx.doi.org/10.1155/2015/781294] +subset: gard_rare {source="GARD:19522"} synonym: "secondary congenital glaucoma" RELATED [http://dx.doi.org/10.1155/2015/781294] +xref: GARD:19522 {source="Orphanet:98631", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98631 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -385341,6 +403431,8 @@ is_obsolete: true [Term] id: MONDO:0020219 name: obsolete corneogoniodysgenesis +subset: gard_rare {source="GARD:19523"} +xref: GARD:19523 {source="MONDO:obsoleteEquivalent", source="Orphanet:98635"} xref: Orphanet:98635 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -385369,7 +403461,9 @@ is_obsolete: true id: MONDO:0020222 name: obsolete rare disease with glaucoma as a major feature subset: disease_grouping +subset: gard_rare {source="GARD:19524"} subset: ordo_group_of_disorders {source="Orphanet:98638"} +xref: GARD:19524 {source="MONDO:obsoleteEquivalent", source="Orphanet:98638"} xref: Orphanet:98638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207054 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385382,8 +403476,10 @@ is_obsolete: true id: MONDO:0020223 name: obsolete lens and zonula anomaly subset: disease_grouping +subset: gard_rare {source="GARD:19525"} subset: implicit_genetic_in_ordo subset: ordo_group_of_disorders {source="Orphanet:98639"} +xref: GARD:19525 {source="MONDO:obsoleteEquivalent", source="Orphanet:98639"} xref: Orphanet:98639 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -385394,9 +403490,11 @@ id: MONDO:0020224 name: obsolete rare cataract def: "OBSOLETE. Rare cataract." [] subset: disease_grouping +subset: gard_rare {source="GARD:19526"} subset: ordo_group_of_disorders {source="Orphanet:98640"} synonym: "rare cataract" EXACT [] synonym: "rare cataract (disease)" EXACT [MONDO:patterns/rare] +xref: GARD:19526 {source="MONDO:obsoleteEquivalent", source="Orphanet:98640"} xref: Orphanet:98640 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0086543 {source="Orphanet:98640"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -385407,9 +403505,11 @@ replaced_by: MONDO:0005129 id: MONDO:0020225 name: obsolete syndromic cataract def: "OBSOLETE. A cataract (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19527"} subset: ordo_group_of_disorders {source="Orphanet:98641"} synonym: "syndrome associated with cataract (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic cataract (disease)" EXACT [MONDO:patterns/syndromic] +xref: GARD:19527 {source="Orphanet:98641", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98641 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227829 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} @@ -385421,7 +403521,9 @@ consider: MONDO:0005129 id: MONDO:0020226 name: obsolete chromosomal anomaly with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' +subset: gard_rare {source="GARD:19528"} subset: ordo_group_of_disorders {source="Orphanet:98642"} +xref: GARD:19528 {source="Orphanet:98642", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98642 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -385445,8 +403547,10 @@ consider: MONDO:0005129 id: MONDO:0020228 name: obsolete cataract associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic cataract' +subset: gard_rare {source="GARD:19529"} subset: ordo_group_of_disorders {source="Orphanet:98644"} synonym: "metabolic disease with cataract" EXACT [Orphanet:98644] +xref: GARD:19529 {source="Orphanet:98644", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98644 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207056 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385470,7 +403574,9 @@ consider: MONDO:0005071 id: MONDO:0020230 name: obsolete renal disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: kidney disease' +subset: gard_rare {source="GARD:19530"} subset: ordo_group_of_disorders {source="Orphanet:98646"} +xref: GARD:19530 {source="MONDO:obsoleteEquivalent", source="Orphanet:98646"} xref: Orphanet:98646 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207058 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385494,7 +403600,9 @@ consider: MONDO:0005267 id: MONDO:0020232 name: obsolete musculoskeletal disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: musculoskeletal system disease' +subset: gard_rare {source="GARD:19531"} subset: ordo_group_of_disorders {source="Orphanet:98648"} +xref: GARD:19531 {source="MONDO:obsoleteEquivalent", source="Orphanet:98648"} xref: Orphanet:98648 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207060 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385506,7 +403614,9 @@ consider: MONDO:0002081 id: MONDO:0020233 name: obsolete dentocutaneous disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: integumentary system disease' +subset: gard_rare {source="GARD:19532"} subset: ordo_group_of_disorders {source="Orphanet:98649"} +xref: GARD:19532 {source="MONDO:obsoleteEquivalent", source="Orphanet:98649"} xref: Orphanet:98649 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385518,13 +403628,17 @@ consider: MONDO:0002051 id: MONDO:0020234 name: obsolete craniofacial anomaly with cataract subset: disease_grouping +subset: gard_rare {source="GARD:19533"} subset: ordo_group_of_disorders {source="Orphanet:98650"} +xref: GARD:19533 {source="MONDO:obsoleteEquivalent", source="Orphanet:98650"} xref: Orphanet:98650 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0020235 name: obsolete lens size anomaly +subset: gard_rare {source="GARD:19534"} +xref: GARD:19534 {source="Orphanet:98652", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98652 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -385535,8 +403649,10 @@ is_obsolete: true id: MONDO:0020236 name: obsolete lens position anomaly def: "OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484] +subset: gard_rare {source="GARD:19535"} subset: ordo_group_of_disorders {source="Orphanet:98653"} synonym: "ectopia lentis" EXACT [NCIT:C125484] +xref: GARD:19535 {source="Orphanet:98653", source="MONDO:obsoleteEquivalent"} xref: HP:0001083 xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="Orphanet:98653/attributed", source="Orphanet:98653/ntbt"} xref: NCIT:C125484 {source="MONDO:obsoleteEquivalent"} @@ -385549,6 +403665,8 @@ consider: HP:0001083 [Term] id: MONDO:0020237 name: obsolete lens shape anomaly +subset: gard_rare {source="GARD:19536"} +xref: GARD:19536 {source="Orphanet:98655", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98655 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -385579,8 +403697,10 @@ replaced_by: MONDO:0001703 id: MONDO:0020240 name: obsolete syndromic retinitis pigmentosa def: "OBSOLETE. A retinitis pigmentosa that is part of a larger syndrome." [MONDO:patterns/syndromic] +subset: gard_rare {source="GARD:19538"} synonym: "syndrome associated with retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] synonym: "syndromic retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] +xref: GARD:19538 {source="MONDO:obsoleteEquivalent", source="Orphanet:98661"} xref: Orphanet:98661 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227834 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -385655,7 +403775,9 @@ consider: MONDO:0020238 id: MONDO:0020246 name: inherited vitreoretinopathy subset: disease_grouping +subset: gard_rare {source="GARD:19539"} subset: ordo_group_of_disorders {source="Orphanet:98668"} +xref: GARD:19539 {source="Orphanet:98668"} xref: HP:0007773 xref: Orphanet:98668 {source="MONDO:equivalentTo"} xref: UMLS:C1850109 {source="MONDO:equivalentTo"} @@ -385687,7 +403809,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020248 name: vitreoretinal degeneration subset: disease_grouping -subset: gard_rare {source="GARD:0005506"} subset: ordo_group_of_disorders {source="Orphanet:98670"} synonym: "degenerative vitreoretinopathy" EXACT [HP:0007964] xref: HP:0007964 @@ -385704,7 +403825,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5506/vitreor id: MONDO:0020249 name: hereditary optic neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:19540"} subset: ordo_group_of_disorders {source="Orphanet:98671"} +xref: GARD:19540 {source="Orphanet:98671"} xref: MedDRA:10061323 {source="Orphanet:98671/e", source="Orphanet:98671"} xref: Orphanet:98671 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="Orphanet:98671"} ! eye disorder @@ -385715,11 +403838,13 @@ id: MONDO:0020250 name: autosomal dominant optic atrophy def: "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." [NCIT:C84577] subset: disease_grouping +subset: gard_rare {source="GARD:11972"} subset: ordo_group_of_disorders {source="Orphanet:98672"} synonym: "ADOA" EXACT ABBREVIATION [Orphanet:98672] synonym: "DOA" EXACT ABBREVIATION [Orphanet:98672] synonym: "dominant optic atrophy" RELATED [GARD:0011972] synonym: "optic atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:11972 {source="Orphanet:98672"} xref: ICD10CM:H47.2 {source="Orphanet:98672/attributed", source="Orphanet:98672/ntbt", source="Orphanet:98672"} xref: MESH:D029241 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="Orphanet:98672"} xref: NCIT:C84577 {source="MONDO:equivalentTo"} @@ -385737,7 +403862,9 @@ relationship: has_characteristic HP:0000006 {source="Orphanet:98672"} ! Autosoma id: MONDO:0020251 name: obsolete rare strabismus and restriction syndrome subset: disease_grouping +subset: gard_rare {source="GARD:19541"} subset: ordo_group_of_disorders {source="Orphanet:98681"} +xref: GARD:19541 {source="MONDO:obsoleteEquivalent", source="Orphanet:98681"} xref: Orphanet:98681 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207070 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385757,7 +403884,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020253 name: obsolete syndrome with a symptomatic strabismus comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' +subset: gard_rare {source="GARD:19542"} subset: ordo_group_of_disorders {source="Orphanet:98683"} +xref: GARD:19542 {source="MONDO:obsoleteEquivalent", source="Orphanet:98683"} xref: Orphanet:98683 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -385769,7 +403898,9 @@ consider: MONDO:0002254 id: MONDO:0020254 name: obsolete craniostenosis associated with a strabismus subset: disease_grouping +subset: gard_rare {source="GARD:19543"} subset: ordo_group_of_disorders {source="Orphanet:98684"} +xref: GARD:19543 {source="MONDO:obsoleteEquivalent", source="Orphanet:98684"} xref: Orphanet:98684 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -385782,9 +403913,11 @@ replaced_by: MONDO:0001309 [Term] id: MONDO:0020256 name: obsolete congenital trochlear nerve palsy +subset: gard_rare {source="GARD:19545"} synonym: "congenital CNIV palsy" EXACT [Orphanet:98686] synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686] synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686] +xref: GARD:19545 {source="Orphanet:98686", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H49.1 {source="Orphanet:98686", source="Orphanet:98686/attributed", source="Orphanet:98686/ntbt"} xref: Orphanet:98686 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686"} ! nuclear oculomotor paralysis @@ -385799,19 +403932,22 @@ name: supranuclear oculomotor palsy def: "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." [https://doi.org/10.1111/j.1468-1331.2009.02779.x, MONDO:cjm] comment: Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:19546"} subset: ordo_group_of_disorders {source="Orphanet:98687"} synonym: "conjugate gaze palsy" RELATED [GARD:0008403] synonym: "gaze palsy" RELATED [GARD:0008403] synonym: "supranuclear disorder of eye movement" RELATED [PMID:2669857] synonym: "supranuclear eye movement disorder" EXACT [Orphanet:98687] synonym: "supranuclear ocular palsy" RELATED [GARD:0008403] +xref: GARD:19546 {source="Orphanet:98687"} xref: Orphanet:98687 {source="MONDO:equivalentTo"} is_a: MONDO:0001309 {source="Orphanet:98687"} ! oculomotor nerve paralysis [Term] id: MONDO:0020258 name: obsolete oculomotor apraxia or related oculomotor disease +subset: gard_rare {source="GARD:19547"} +xref: GARD:19547 {source="Orphanet:98688", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98688 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207073 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000423 @@ -385983,6 +404119,8 @@ consider: MONDO:0020266 id: MONDO:0020275 name: obsolete oculocutaneous or ocular albinism def: "OBSOLETE. Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [MONDO:cjm, Wikipedia:Albinism] +subset: gard_rare {source="GARD:19548"} +xref: GARD:19548 {source="MONDO:obsoleteEquivalent", source="Orphanet:98706"} xref: ICD10CM:E70.3 {source="Orphanet:98706/e", source="Orphanet:98706/specific", source="Orphanet:98706"} xref: Orphanet:98706 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -386077,6 +404215,7 @@ id: MONDO:0020283 name: uveitis def: "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." [NCIT:C26909] subset: disease_grouping +subset: gard_rare {source="GARD:19549"} subset: ordo_group_of_disorders {source="Orphanet:98715"} synonym: "inflammation of uvea" EXACT [] synonym: "uvea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -386084,6 +404223,7 @@ synonym: "uveitis" EXACT [MONDO:ambiguous] synonym: "uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"} xref: EFO:1001231 {source="MONDO:equivalentTo"} +xref: GARD:19549 {source="Orphanet:98715"} xref: HP:0000554 {source="MONDO:otherHierarchy"} xref: ICD10CM:H20.9 {source="DOID:13141"} xref: MedDRA:10046851 {source="EFO:1001231", source="Orphanet:98715", source="Orphanet:98715/e"} @@ -386106,6 +404246,8 @@ property_value: IAO:0000589 "uveitis (disease)" xsd:string [Term] id: MONDO:0020284 name: obsolete heart position anomaly +subset: gard_rare {source="GARD:19550"} +xref: GARD:19550 {source="MONDO:obsoleteEquivalent", source="Orphanet:98716"} xref: Orphanet:98716 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -386116,6 +404258,8 @@ is_obsolete: true [Term] id: MONDO:0020285 name: obsolete transposition of the great arteries and conotruncal cardiac anomaly +subset: gard_rare {source="GARD:19551"} +xref: GARD:19551 {source="MONDO:obsoleteEquivalent", source="Orphanet:98717"} xref: Orphanet:98717 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -386126,6 +404270,8 @@ is_obsolete: true [Term] id: MONDO:0020286 name: obsolete aortic malformation +subset: gard_rare {source="GARD:19552"} +xref: GARD:19552 {source="MONDO:obsoleteEquivalent", source="Orphanet:98718"} xref: Orphanet:98718 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -386136,6 +404282,8 @@ is_obsolete: true [Term] id: MONDO:0020287 name: obsolete pulmonary artery or pulmonary branch anomaly +subset: gard_rare {source="GARD:19553"} +xref: GARD:19553 {source="MONDO:obsoleteEquivalent", source="Orphanet:98719"} xref: Orphanet:98719 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -386146,6 +404294,8 @@ is_obsolete: true [Term] id: MONDO:0020288 name: obsolete atrioventricular valve anomaly +subset: gard_rare {source="GARD:19554"} +xref: GARD:19554 {source="Orphanet:98720", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98720 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -386157,7 +404307,9 @@ is_obsolete: true id: MONDO:0020289 name: congenital tricuspid malformation subset: disease_grouping +subset: gard_rare {source="GARD:19555"} subset: ordo_group_of_disorders {source="Orphanet:98721"} +xref: GARD:19555 {source="Orphanet:98721"} xref: HP:0001702 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q22.4 {source="Orphanet:98721", source="Orphanet:98721/btnt"} xref: ICD10CM:Q22.5 {source="Orphanet:98721", source="Orphanet:98721/btnt"} @@ -386177,7 +404329,7 @@ id: MONDO:0020290 name: familial atrioventricular septal defect def: "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:802"} subset: ordo_group_of_disorders {source="Orphanet:98722"} synonym: "atrioventricular canal defect" NARROW [DOID:0050651] synonym: "atrioventricular septal defect" NARROW [Orphanet:98722] @@ -386189,6 +404341,7 @@ synonym: "common AV canal" NARROW [NCIT:C101029] synonym: "ECD" NARROW ABBREVIATION [DOID:0050651] synonym: "endocardial cushion defect" NARROW [DOID:0050651] xref: DOID:0050651 {source="MONDO:equivalentTo"} +xref: GARD:802 {source="Orphanet:98722"} xref: ICD10CM:Q21.2 {source="DOID:0050651", source="Orphanet:98722", source="Orphanet:98722/e"} xref: ICD9:745.6 {source="DOID:0050651"} xref: ICD9:745.60 {source="DOID:0050651", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -386215,10 +404368,11 @@ id: MONDO:0020291 name: hypoplastic right heart syndrome def: "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." [Orphanet:98723] subset: disease_grouping -subset: gard_rare {source="GARD:0002922"} +subset: gard_rare {source="GARD:2922"} subset: ordo_group_of_disorders {source="Orphanet:98723"} synonym: "right hypoplastic heart syndrome" EXACT [NCIT:C99053] xref: DOID:0070315 {source="MONDO:equivalentTo"} +xref: GARD:2922 {source="Orphanet:98723"} xref: ICD10CM:Q22.6 {source="Orphanet:98723", source="MONDO:equivalentTo", source="Orphanet:98723/e"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050053 {source="Orphanet:98723", source="Orphanet:98723/e"} @@ -386236,8 +404390,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2922/hypopla id: MONDO:0020292 name: congenital anomaly of the great arteries subset: disease_grouping +subset: gard_rare {source="GARD:19556"} subset: ordo_group_of_disorders {source="Orphanet:98724"} synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724] +xref: GARD:19556 {source="Orphanet:98724"} xref: MedDRA:10061080 {source="Orphanet:98724", source="Orphanet:98724/e"} xref: Orphanet:98724 {source="MONDO:equivalentTo"} xref: UMLS:C0948632 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98724", source="Orphanet:98724/e"} @@ -386248,6 +404404,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020293 name: obsolete ascending aorta anomaly +subset: gard_rare {source="GARD:19557"} +xref: GARD:19557 {source="MONDO:obsoleteEquivalent", source="Orphanet:98725"} xref: ICD10CM:Q25.4 {source="Orphanet:98725", source="Orphanet:98725/ntbt"} xref: Orphanet:98725 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0345043 {source="Orphanet:98725", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98725/e"} @@ -386260,8 +404418,10 @@ is_obsolete: true [Term] id: MONDO:0020294 name: obsolete atrial defect and interatrial communication +subset: gard_rare {source="GARD:19558"} synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727] synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727] +xref: GARD:19558 {source="MONDO:obsoleteEquivalent", source="Orphanet:98727"} xref: ICD10CM:Q21.1 {source="Orphanet:98727", source="Orphanet:98727/ntbt"} xref: Orphanet:98727 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -386275,9 +404435,11 @@ id: MONDO:0020295 name: congenital pulmonary veins anomaly def: "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." [NCIT:C110942] subset: disease_grouping +subset: gard_rare {source="GARD:19559"} subset: ordo_group_of_disorders {source="Orphanet:98729"} synonym: "congenital anomaly of pulmonary veins" EXACT [] synonym: "pulmonary vein abnormality" RELATED [] +xref: GARD:19559 {source="Orphanet:98729"} xref: NCIT:C110942 {source="MONDO:equivalentTo"} xref: Orphanet:98729 {source="MONDO:equivalentTo"} xref: SCTID:111322000 {source="MONDO:equivalentTo"} @@ -386291,7 +404453,9 @@ id: MONDO:0020296 name: congenital arteriovenous fistula def: "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." [NCIT:C35377] subset: disease_grouping +subset: gard_rare {source="GARD:19560"} subset: ordo_group_of_disorders {source="Orphanet:98731"} +xref: GARD:19560 {source="Orphanet:98731"} xref: MedDRA:10003226 {source="Orphanet:98731", source="Orphanet:98731/e"} xref: MESH:D001164 {source="Orphanet:98731", source="MONDO:equivalentTo", source="Orphanet:98731/e"} xref: NCIT:C35377 {source="MONDO:equivalentTo"} @@ -386307,7 +404471,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020297 name: Noonan syndrome and Noonan-related syndrome subset: disease_grouping +subset: gard_rare {source="GARD:19561"} subset: ordo_group_of_disorders {source="Orphanet:98733"} +xref: GARD:19561 {source="Orphanet:98733"} xref: MESH:C537846 {source="MONDO:equivalentTo"} xref: Orphanet:98733 {source="MONDO:equivalentTo"} xref: UMLS:CN166718 {source="MONDO:equivalentTo"} @@ -386320,9 +404486,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare [Term] id: MONDO:0020298 name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 +subset: gard_rare {source="GARD:16861"} subset: ordo_etiological_subtype {source="Orphanet:98754"} synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754] synonym: "UPD(15)mat" EXACT [Orphanet:98754] +xref: GARD:16861 {source="Orphanet:98754"} xref: ICD10CM:Q87.1 {source="Orphanet:98754", source="Orphanet:98754/attributed", source="Orphanet:98754/ntbt"} xref: Orphanet:98754 {source="MONDO:equivalentTo"} xref: UMLS:CN207093 {source="MONDO:equivalentTo"} @@ -386340,10 +404508,12 @@ replaced_by: MONDO:0011694 id: MONDO:0020300 name: autosomal dominant nocturnal frontal lobe epilepsy def: "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." [Orphanet:98784] +subset: gard_rare {source="GARD:11918"} subset: ordo_disease {source="Orphanet:98784"} synonym: "ADNFLE" EXACT ABBREVIATION [Orphanet:98784] synonym: "ENFL" EXACT ABBREVIATION [DOID:0060681] xref: DOID:0060681 {source="MONDO:equivalentTo"} +xref: GARD:11918 {source="Orphanet:98784"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579932 {source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"} @@ -386355,7 +404525,9 @@ is_a: MONDO:0017704 {source="Orphanet:98784"} ! familial partial epilepsy [Term] id: MONDO:0020301 name: Prader-Willi syndrome due to paternal 15q11q13 deletion +subset: gard_rare {source="GARD:19576"} subset: ordo_etiological_subtype {source="Orphanet:98793"} +xref: GARD:19576 {source="Orphanet:98793"} xref: ICD10CM:Q87.1 {source="Orphanet:98793/attributed", source="Orphanet:98793/ntbt", source="Orphanet:98793"} xref: Orphanet:98793 {source="MONDO:equivalentTo"} xref: UMLS:CN207115 {source="MONDO:equivalentTo"} @@ -386367,8 +404539,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020302 name: Angelman syndrome due to maternal 15q11q13 deletion +subset: gard_rare {source="GARD:19577"} subset: ordo_etiological_subtype {source="Orphanet:98794"} synonym: "Angelman syndrome due to maternal monosomy 15q11q13" EXACT [Orphanet:98794] +xref: GARD:19577 {source="Orphanet:98794"} xref: ICD10CM:Q93.5 {source="Orphanet:98794/attributed", source="Orphanet:98794/ntbt", source="Orphanet:98794"} xref: Orphanet:98794 {source="MONDO:equivalentTo"} xref: UMLS:CN207116 {source="MONDO:equivalentTo"} @@ -386380,9 +404554,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020303 name: Angelman syndrome due to paternal uniparental disomy of chromosome 15 +subset: gard_rare {source="GARD:19578"} subset: ordo_etiological_subtype {source="Orphanet:98795"} synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795] synonym: "UPD(15)pat" EXACT [Orphanet:98795] +xref: GARD:19578 {source="Orphanet:98795"} xref: ICD10CM:Q93.5 {source="Orphanet:98795", source="Orphanet:98795/attributed", source="Orphanet:98795/ntbt"} xref: Orphanet:98795 {source="MONDO:equivalentTo"} xref: UMLS:CN207117 {source="MONDO:equivalentTo"} @@ -386394,7 +404570,9 @@ relationship: disease_arises_from_structure CHR:9606-chr15 {source="https://orci id: MONDO:0020304 name: isochromosomy Yp def: "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." [Orphanet:98797] +subset: gard_rare {source="GARD:19579"} subset: ordo_malformation_syndrome {source="Orphanet:98797"} +xref: GARD:19579 {source="Orphanet:98797"} xref: ICD10CM:Q98.6 {source="Orphanet:98797/attributed", source="Orphanet:98797/ntbt", source="Orphanet:98797"} xref: Orphanet:98797 {source="MONDO:equivalentTo"} xref: SCTID:766708008 {source="MONDO:equivalentTo"} @@ -386404,7 +404582,9 @@ is_a: MONDO:0019935 {source="Orphanet:98797"} ! isochromosome Y id: MONDO:0020305 name: isochromosomy Yq def: "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." [Orphanet:98798] +subset: gard_rare {source="GARD:19580"} subset: ordo_malformation_syndrome {source="Orphanet:98798"} +xref: GARD:19580 {source="Orphanet:98798"} xref: ICD10CM:Q98.6 {source="Orphanet:98798", source="Orphanet:98798/attributed", source="Orphanet:98798/ntbt"} xref: Orphanet:98798 {source="MONDO:equivalentTo"} is_a: MONDO:0019935 {source="Orphanet:98798"} ! isochromosome Y @@ -386421,9 +404601,11 @@ replaced_by: MONDO:0008572 id: MONDO:0020307 name: benign childhood occipital epilepsy, Panayiotopoulos type def: "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." [Orphanet:98815] +subset: gard_rare {source="GARD:19581"} subset: ordo_clinical_subtype {source="Orphanet:98815"} synonym: "early-onset benign childhood occipital epilepsy" EXACT [Orphanet:98815] synonym: "Panayiotopoulos syndrome" EXACT [Orphanet:98815] +xref: GARD:19581 {source="Orphanet:98815"} xref: ICD10CM:G40.0 {source="Orphanet:98815", source="Orphanet:98815/attributed", source="Orphanet:98815/ntbt"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98815 {source="MONDO:equivalentTo"} @@ -386435,8 +404617,10 @@ is_a: MONDO:0007558 {source="Orphanet:98815"} ! benign occipital epilepsy id: MONDO:0020308 name: benign childhood occipital epilepsy, Gastaut type def: "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." [Orphanet:98816] +subset: gard_rare {source="GARD:19582"} subset: ordo_clinical_subtype {source="Orphanet:98816"} synonym: "late-onset benign childhood occipital epilepsy" EXACT [Orphanet:98816] +xref: GARD:19582 {source="Orphanet:98816"} xref: ICD10CM:G40.0 {source="Orphanet:98816/attributed", source="Orphanet:98816/ntbt", source="Orphanet:98816"} xref: Orphanet:98816 {source="MONDO:equivalentTo"} xref: UMLS:CN207128 {source="MONDO:equivalentTo"} @@ -386452,12 +404636,14 @@ replaced_by: MONDO:0009509 id: MONDO:0020310 name: familial focal epilepsy with variable foci def: "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." [Orphanet:98820] +subset: gard_rare {source="GARD:13295"} subset: ordo_disease {source="Orphanet:98820"} subset: prototype_pattern synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIM:604364] synonym: "familial focal epilepsy with variable foci" EXACT CLINGEN_PREFERRED [] synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820] synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820] +xref: GARD:13295 {source="Orphanet:98820"} xref: MESH:C565785 {source="MONDO:equivalentTo"} xref: OMIMPS:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"} @@ -386472,12 +404658,14 @@ property_value: confidence "1.6988228538616128" xsd:double id: MONDO:0020311 name: chronic myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] +subset: gard_rare {source="GARD:8225"} subset: ordo_disease {source="Orphanet:98823"} synonym: "chronic myelomonocytic leukaemia (CMML)" EXACT OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178] synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178] synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, OMIM:607785, Orphanet:98823] xref: DOID:0080188 {source="MONDO:equivalentTo"} +xref: GARD:8225 {source="Orphanet:98823"} xref: ICD10CM:C93.1 {source="Orphanet:98823", source="Orphanet:98823/e"} xref: ICDO:9945/3 {source="NCIT:C3178"} xref: MedDRA:10009018 {source="Orphanet:98823", source="Orphanet:98823/e"} @@ -386504,8 +404692,10 @@ replaced_by: MONDO:0004653 [Term] id: MONDO:0020313 name: obsolete unclassified myelodysplastic/myeloproliferative disease +subset: gard_rare {source="GARD:19584"} subset: ordo_disease {source="Orphanet:98825"} synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [Orphanet:98825] +xref: GARD:19584 {source="MONDO:obsoleteEquivalent", source="Orphanet:98825"} xref: Orphanet:98825 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207134 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -386523,7 +404713,9 @@ replaced_by: MONDO:0005272 id: MONDO:0020315 name: obsolete unclassified myelodysplastic syndrome def: "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." [Orphanet:98827] +subset: gard_rare {source="GARD:19586"} subset: ordo_disease {source="Orphanet:98827"} +xref: GARD:19586 {source="MONDO:obsoleteEquivalent", source="Orphanet:98827"} xref: Orphanet:98827 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207136 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -386535,13 +404727,14 @@ consider: MONDO:0019453 id: MONDO:0020316 name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) def: "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." [https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22] -subset: gard_rare {source="GARD:0000536"} +subset: gard_rare {source="GARD:536"} subset: ordo_disease {source="Orphanet:98829"} synonym: "acute myelomonocytic leukaemia" RELATED OMO:0003005 [] synonym: "acute myelomonocytic leukemia" RELATED [GARD:0000536] synonym: "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" EXACT [Orphanet:98829] synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:0000536] synonym: "CBFB-MYH11" RELATED [GARD:0000536] +xref: GARD:536 {source="Orphanet:98829"} xref: ICD10CM:C92.5 {source="Orphanet:98829/e", source="Orphanet:98829"} xref: Orphanet:98829 {source="MONDO:equivalentTo"} xref: UMLS:C0023479 {source="MONDO:relatedTo", source="GARD:0000536"} @@ -386553,6 +404746,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/536/acute-my id: MONDO:0020317 name: acute myeloid leukemia with 11q23 abnormalities def: "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." [NCIT:P378] +subset: gard_rare {source="GARD:19587"} subset: ordo_disease {source="Orphanet:98831"} synonym: "acute myeloid leukaemia with 11q23 (MLL) abnormalities" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with MLL abnormalities" EXACT OMO:0003005 [] @@ -386566,6 +404760,7 @@ synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [ synonym: "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] synonym: "AML with 11q23 abnormalities" EXACT [Orphanet:98831] synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] +xref: GARD:19587 {source="Orphanet:98831"} xref: ICD10CM:C92.6 {source="Orphanet:98831", source="Orphanet:98831/e"} xref: ICDO:9897/3 {source="NCIT:C82403"} xref: NCIT:C82403 {source="MONDO:equivalentTo"} @@ -386586,7 +404781,7 @@ replaced_by: MONDO:0005224 id: MONDO:0020320 name: acute myeloblastic leukemia with maturation def: "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] -subset: gard_rare {source="GARD:0000527"} +subset: gard_rare {source="GARD:527"} subset: ordo_disease {source="Orphanet:98834"} synonym: "acute M2 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M2 myeloid leukemia" EXACT [NCIT:C3250] @@ -386625,6 +404820,7 @@ synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250] xref: DOID:0081087 {source="MONDO:equivalentTo"} xref: EFO:0003028 {source="MONDO:equivalentTo"} +xref: GARD:527 {source="Orphanet:98834"} xref: ICD10CM:C92.0 {source="Orphanet:98834", source="Orphanet:98834/ntbt"} xref: ICDO:9874/3 {source="NCIT:C3250"} xref: NCIT:C3250 {source="MONDO:equivalentTo", source="EFO:0003028"} @@ -386641,6 +404837,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/527/acute-my id: MONDO:0020321 name: acute undifferentiated leukemia def: "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." [NCIT:C9298] +subset: gard_rare {source="GARD:16863"} subset: ordo_disease {source="Orphanet:98835"} synonym: "acute leukaemia not otherwise specified" RELATED OMO:0003005 [] synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [NCIT:C9298] @@ -386656,6 +404853,7 @@ synonym: "stem cell leukaemia" EXACT OMO:0003005 [] synonym: "stem cell leukemia" EXACT [NCIT:C9298] synonym: "undifferentiated acute leukaemia" EXACT OMO:0003005 [] synonym: "undifferentiated acute leukemia" EXACT [NCIT:C9298] +xref: GARD:16863 {source="Orphanet:98835"} xref: ICD10CM:C95.0 {source="Orphanet:98835", source="Orphanet:98835/ntbt"} xref: MedDRA:10045516 {source="Orphanet:98835", source="Orphanet:98835/e"} xref: NCIT:C9298 {source="MONDO:equivalentTo"} @@ -386699,6 +404897,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0020323 name: primary mediastinal large B-cell lymphoma def: "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" [NCIT:C9280] +subset: gard_rare {source="GARD:19589"} subset: ordo_disease {source="Orphanet:98838"} synonym: "B-cell diffuse large cell lymphoma of mediastinum" EXACT [NCIT:C9280] synonym: "B-cell diffuse large cell lymphoma of the mediastinum" EXACT [NCIT:C9280] @@ -386716,6 +404915,7 @@ synonym: "primary mediastinal B-cell lymphoma" RELATED [DOID:0080210] synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, Orphanet:98838] synonym: "primary mediastinal large B-cell lymphoma" EXACT [NCIT:C9280] xref: DOID:0080210 {source="MONDO:equivalentTo"} +xref: GARD:19589 {source="Orphanet:98838"} xref: ICD10CM:C83.3 {source="Orphanet:98838/ntbt", source="Orphanet:98838"} xref: ICD10CM:C85.2 {source="DOID:0080210"} xref: ICDO:9679/3 {source="NCIT:C9280"} @@ -386733,6 +404933,7 @@ is_a: MONDO:0018905 {source="DOID:0080210", source="NCIT:C9280", source="Orphane id: MONDO:0020324 name: intravascular large B-cell lymphoma def: "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." [Orphanet:98839] +subset: gard_rare {source="GARD:19590"} subset: ordo_disease {source="Orphanet:98839"} synonym: "angioendotheliomatosis proliferans systemisata" EXACT [Orphanet:98839] synonym: "angiotropic large cell lymphoma" EXACT [NCIT:C4342, Orphanet:98839] @@ -386744,6 +404945,7 @@ synonym: "IVBCL" RELATED ABBREVIATION [ONCOTREE:IVBCL] synonym: "malignant angioendotheliomatosis" EXACT [NCIT:C4342, Orphanet:98839] synonym: "Tappeiner-Pfleger disease" EXACT [Orphanet:98839] xref: DOID:0081311 {source="MONDO:equivalentTo"} +xref: GARD:19590 {source="Orphanet:98839"} xref: ICD10CM:C83.3 {source="Orphanet:98839", source="Orphanet:98839/ntbt"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9712/3 {source="NCIT:C4342"} @@ -386760,7 +404962,7 @@ is_a: MONDO:0018905 {source="NCIT:C4342", source="Orphanet:98839"} ! diffuse lar id: MONDO:0020325 name: anaplastic large cell lymphoma def: "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." [Orphanet:98841] -subset: gard_rare {source="GARD:0003112"} +subset: gard_rare {source="GARD:3112"} subset: ordo_disease {source="Orphanet:98841"} synonym: "ALCL" EXACT ABBREVIATION [NCIT:C3720, Orphanet:98841] synonym: "anaplastic large cell lymphoma" EXACT [MONDO:0005228, NCIT:C3720] @@ -386774,6 +404976,7 @@ synonym: "primary systemic ALCL" EXACT [Orphanet:98841] synonym: "sACL" EXACT [Orphanet:98841] xref: DOID:0050744 {source="MONDO:equivalentTo", source="EFO:0003032"} xref: EFO:0003032 {source="MONDO:equivalentTo"} +xref: GARD:3112 {source="Orphanet:98841"} xref: HGNC:427 {source="GARD:0003112"} xref: ICD10CM:C84.6 {source="Orphanet:98841/btnt", source="Orphanet:98841"} xref: ICD10CM:C84.7 {source="Orphanet:98841/btnt", source="Orphanet:98841"} @@ -386795,11 +404998,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3112/anaplas id: MONDO:0020326 name: lymphomatoid papulosis def: "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." [Orphanet:98842] -subset: gard_rare {source="GARD:0006944"} +subset: gard_rare {source="GARD:6944"} subset: ordo_disease {source="Orphanet:98842"} synonym: "LYP" RELATED ABBREVIATION [ONCOTREE:LYP] synonym: "LyP" EXACT [Orphanet:98842] xref: EFO:1000341 {source="MONDO:equivalentTo"} +xref: GARD:6944 {source="Orphanet:98842"} xref: ICD10CM:C86.6 {source="Orphanet:98842", source="Orphanet:98842/e"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9718/1 {source="NCIT:C3721"} @@ -386816,7 +405020,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6944/lymphom [Term] id: MONDO:0020327 name: classic Hodgkin lymphoma, nodular sclerosis type +subset: gard_rare {source="GARD:19591"} subset: ordo_histopathological_subtype {source="Orphanet:98843"} +xref: GARD:19591 {source="Orphanet:98843"} xref: ICD10CM:C81.1 {source="Orphanet:98843", source="Orphanet:98843/e"} xref: Orphanet:98843 {source="MONDO:equivalentTo"} xref: UMLS:C0152268 {source="Orphanet:98843", source="MONDO:notFoundInDiseaseSubset"} @@ -386850,10 +405056,12 @@ replaced_by: MONDO:0004620 id: MONDO:0020331 name: indolent systemic mastocytosis def: "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." [Orphanet:98848] +subset: gard_rare {source="GARD:19595"} subset: ordo_disease {source="Orphanet:98848"} synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4660] synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM] xref: DOID:4660 {source="MONDO:equivalentTo"} +xref: GARD:19595 {source="Orphanet:98848"} xref: ICD10CM:D47.0 {source="Orphanet:98848", source="Orphanet:98848/ntbt", source="DOID:4660"} xref: ICDO:9741/1 {source="NCIT:C9286"} xref: MedDRA:10056452 {source="Orphanet:98848", source="Orphanet:98848/e"} @@ -386871,6 +405079,7 @@ is_a: MONDO:0016586 {source="DOID:4660", source="NCIT:C9286/inferred", source="O id: MONDO:0020332 name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease def: "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." [Orphanet:98849] +subset: gard_rare {source="GARD:19596"} subset: ordo_disease {source="Orphanet:98849"} synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284] synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284] @@ -386888,6 +405097,7 @@ synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cel synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849] xref: DOID:4797 {source="MONDO:equivalentTo"} xref: EFO:1000559 {source="MONDO:equivalentTo"} +xref: GARD:19596 {source="Orphanet:98849"} xref: ICD10CM:C96.2 {source="Orphanet:98849/ntbt", source="Orphanet:98849"} xref: ICDO:9741/3 {source="NCIT:C9284"} xref: NCIT:C9284 {source="DOID:4797", source="MONDO:equivalentTo", source="EFO:1000559"} @@ -386903,11 +405113,13 @@ is_a: MONDO:0016586 {source="Orphanet:98849"} ! systemic mastocytosis id: MONDO:0020333 name: aggressive systemic mastocytosis def: "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." [Orphanet:98850] +subset: gard_rare {source="GARD:19597"} subset: ordo_disease {source="Orphanet:98850"} synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4798] synonym: "ASM" EXACT ABBREVIATION [DOID:4798, NCIT:C9285, ONCOTREE:ASM] synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798] xref: DOID:4798 {source="MONDO:equivalentTo"} +xref: GARD:19597 {source="Orphanet:98850"} xref: ICD10CM:C96.2 {source="Orphanet:98850", source="DOID:4798", source="Orphanet:98850/ntbt"} xref: ICDO:9741/3 {source="NCIT:C9285"} xref: MedDRA:10056453 {source="Orphanet:98850", source="Orphanet:98850/e"} @@ -386926,6 +405138,7 @@ id: MONDO:0020334 name: mast cell leukemia def: "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." [Orphanet:98851] subset: disease_grouping +subset: gard_rare {source="GARD:19598"} subset: ordo_disease {source="Orphanet:158799"} subset: ordo_group_of_disorders {source="Orphanet:98851"} synonym: "aleukemic mast cell leukaemia" EXACT OMO:0003005 [] @@ -386937,6 +405150,7 @@ synonym: "mast-cell leukemia" EXACT [MONDO:0005840] synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL] xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"} xref: EFO:0007359 {source="MONDO:equivalentTo"} +xref: GARD:19598 {source="Orphanet:98851"} xref: ICD10CM:C94.3 {source="Orphanet:98851", source="Orphanet:158799/ntbt", source="Orphanet:158799", source="Orphanet:98851/e", source="DOID:9254"} xref: ICD10CM:C94.30 {source="DOID:9254"} xref: ICDO:9742/3 {source="NCIT:C3169"} @@ -386964,11 +405178,12 @@ replaced_by: MONDO:0009887 id: MONDO:0020336 name: autosomal dominant Emery-Dreifuss muscular dystrophy def: "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_dominant] -subset: gard_rare +subset: gard_rare {source="GARD:16865"} subset: ordo_etiological_subtype {source="Orphanet:98853"} synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_PREFERRED [] synonym: "EDMD2" NARROW ABBREVIATION [Orphanet:98853] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: GARD:16865 {source="Orphanet:98853"} xref: ICD10CM:G71.0 {source="Orphanet:98853", source="Orphanet:98853/attributed", source="Orphanet:98853/ntbt"} xref: Orphanet:98853 {source="MONDO:equivalentTo"} xref: UMLS:C0410190 {source="Orphanet:98853", source="Orphanet:98853/e", source="MONDO:directSiblingOf"} @@ -386982,6 +405197,7 @@ property_value: confidence "0.16640000000000033" xsd:double id: MONDO:0020337 name: congenital dyserythropoietic anemia type 1 def: "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." [Orphanet:98869] +subset: gard_rare {source="GARD:2000"} subset: ordo_disease {source="Orphanet:98869"} synonym: "anemia, dyserythropoietic, congenital type 1" RELATED [GARD:0002000] synonym: "CDA I" EXACT [Orphanet:98869] @@ -386992,6 +405208,7 @@ synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000] synonym: "type I congenital dyserythropoietic anaemia" RELATED OMO:0003005 [] synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000] xref: DOID:0111396 {source="MONDO:equivalentTo"} +xref: GARD:2000 {source="Orphanet:98869"} xref: ICD10CM:D64.4 {source="Orphanet:98869", source="Orphanet:98869/attributed", source="Orphanet:98869/ntbt"} xref: Orphanet:98869 {source="MONDO:equivalentTo"} xref: SCTID:59548005 {source="MONDO:equivalentTo"} @@ -387004,12 +405221,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020338 name: adult pure red cell aplasia def: "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." [Orphanet:98872] +subset: gard_rare {source="GARD:10898"} subset: ordo_disease {source="Orphanet:98872"} synonym: "acquired PRCA" RELATED [GARD:0010898] synonym: "acquired pure red cell aplasia" RELATED [GARD:0010898] synonym: "adult pure red-cell aplasia" EXACT [MONDO:design_pattern] synonym: "idiopathic pure red cell aplasia" RELATED [GARD:0010898] synonym: "pure red-cell aplasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +xref: GARD:10898 {source="Orphanet:98872"} xref: ICD10CM:D60.0 {source="Orphanet:98872", source="Orphanet:98872/ntbt"} xref: NCIT:C70548 {source="MONDO:equivalentTo"} xref: Orphanet:98872 {source="MONDO:equivalentTo"} @@ -387022,11 +405241,13 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset [Term] id: MONDO:0020339 name: obsolete X-linked complex spastic paraplegia +subset: gard_rare {source="GARD:19599"} synonym: "Complex X-linked HSP" EXACT [Orphanet:98888] synonym: "Complex X-linked SPG" EXACT [Orphanet:98888] synonym: "complicated X-linked HSP" EXACT [Orphanet:98888] synonym: "complicated X-linked SPG" EXACT [Orphanet:98888] synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888] +xref: GARD:19599 {source="MONDO:obsoleteEquivalent", source="Orphanet:98888"} xref: ICD10CM:G11.4 {source="Orphanet:98888/attributed", source="Orphanet:98888/ntbt", source="Orphanet:98888"} xref: Orphanet:98888 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -387039,8 +405260,10 @@ is_obsolete: true [Term] id: MONDO:0020340 name: bilateral perisylvian polymicrogyria +subset: gard_rare {source="GARD:6011"} subset: ordo_clinical_subtype {source="Orphanet:98889"} xref: DOID:0080924 {source="MONDO:equivalentTo"} +xref: GARD:6011 {source="Orphanet:98889"} xref: ICD10CM:Q04.3 {source="Orphanet:98889", source="Orphanet:98889/attributed", source="Orphanet:98889/ntbt"} xref: Orphanet:98889 {source="MONDO:equivalentTo"} xref: UMLS:C1845668 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98889"} @@ -387050,10 +405273,12 @@ is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria id: MONDO:0020341 name: periventricular nodular heterotopia def: "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." [Orphanet:98892] +subset: gard_rare {source="GARD:12724"} subset: ordo_clinical_subtype {source="Orphanet:98892"} synonym: "periventricular heterotopia" EXACT [DOID:0050454] synonym: "periventricular nodular heterotopia" EXACT CLINGEN_PREFERRED [] xref: DOID:0050454 {source="MONDO:equivalentTo"} +xref: GARD:12724 {source="Orphanet:98892"} xref: ICD10CM:Q04.8 {source="Orphanet:98892/attributed", source="Orphanet:98892/ntbt", source="Orphanet:98892"} xref: MedDRA:10066854 {source="Orphanet:98892/e", source="Orphanet:98892"} xref: MESH:D054091 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} @@ -387069,6 +405294,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300049"} ! inheri [Term] id: MONDO:0020342 name: obsolete congenital myopathy with excess of thin filaments +xref: GARD:16869 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6036" xsd:anyURI is_obsolete: true @@ -387077,7 +405303,9 @@ replaced_by: MONDO:0008070 [Term] id: MONDO:0020343 name: obsolete alpha-crystallinopathy +subset: gard_rare {source="GARD:19600"} synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910] +xref: GARD:19600 {source="MONDO:obsoleteEquivalent", source="Orphanet:98910"} xref: ICD10CM:G71.8 {source="Orphanet:98910/attributed", source="Orphanet:98910/ntbt", source="Orphanet:98910"} xref: Orphanet:98910 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -387090,8 +405318,10 @@ is_obsolete: true [Term] id: MONDO:0020344 name: postsynaptic congenital myasthenic syndrome +subset: gard_rare {source="GARD:15022"} subset: ordo_etiological_subtype {source="Orphanet:98913"} synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913] +xref: GARD:15022 {source="Orphanet:98913"} xref: ICD10CM:G70.2 {source="Orphanet:98913", source="Orphanet:98913/attributed", source="Orphanet:98913/ntbt"} xref: Orphanet:98913 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="MONDO:Redundant", source="Orphanet:98913"} ! congenital myasthenic syndrome @@ -387104,7 +405334,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020345 name: obsolete presynaptic congenital myasthenic syndrome +subset: gard_rare {source="GARD:15023"} synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914] +xref: GARD:15023 {source="MONDO:obsoleteEquivalent", source="Orphanet:98914"} xref: ICD10CM:G70.2 {source="Orphanet:98914", source="Orphanet:98914/attributed", source="Orphanet:98914/ntbt"} xref: Orphanet:98914 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0751884 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98914"} @@ -387119,7 +405351,9 @@ is_obsolete: true [Term] id: MONDO:0020346 name: obsolete synaptic congenital myasthenic syndrome +subset: gard_rare {source="GARD:16872"} synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915] +xref: GARD:16872 {source="MONDO:obsoleteEquivalent", source="Orphanet:98915"} xref: ICD10CM:G70.2 {source="Orphanet:98915/attributed", source="Orphanet:98915/ntbt", source="Orphanet:98915"} xref: Orphanet:98915 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -387135,6 +405369,7 @@ id: MONDO:0020347 name: acute inflammatory demyelinating polyradiculoneuropathy def: "An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS)." [Orphanet:98916] comment: Editor note: check this +subset: gard_rare {source="GARD:16873"} subset: ordo_disease {source="Orphanet:98916"} synonym: "acute idiopathic demyelinating polyneuropathy" EXACT [Orphanet:98916] synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [NCIT:C116926] @@ -387143,6 +405378,7 @@ synonym: "AIDP" EXACT ABBREVIATION [Orphanet:98916] synonym: "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] synonym: "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] synonym: "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] +xref: GARD:16873 {source="Orphanet:98916"} xref: ICD10CM:G61.0 {source="Orphanet:98916", source="Orphanet:98916/ntbt"} xref: NCIT:C116926 {source="MONDO:equivalentTo"} xref: Orphanet:98916 {source="MONDO:equivalentTo"} @@ -387159,12 +405395,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020348 name: acute motor and sensory axonal neuropathy def: "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS)." [Orphanet:98917] +subset: gard_rare {source="GARD:19601"} subset: ordo_disease {source="Orphanet:98917"} synonym: "acute motor-sensory axonal GBS" EXACT [Orphanet:98917] synonym: "acute motor-sensory axonal Guillain-Barre syndrome" EXACT [Orphanet:98917] synonym: "acute motor-sensory axonal Guillain-Barré syndrome" EXACT [Orphanet:98917] synonym: "acute motor-sensory axonal neuropathy" EXACT [NCIT:C116927] synonym: "AMSAN" EXACT ABBREVIATION [Orphanet:98917] +xref: GARD:19601 {source="Orphanet:98917"} xref: ICD10CM:G61.0 {source="Orphanet:98917/ntbt", source="Orphanet:98917"} xref: NCIT:C116927 {source="MONDO:equivalentTo"} xref: Orphanet:98917 {source="MONDO:equivalentTo"} @@ -387179,11 +405417,13 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0020349 name: acute motor axonal neuropathy def: "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS)." [Orphanet:98918] +subset: gard_rare {source="GARD:19602"} subset: ordo_disease {source="Orphanet:98918"} synonym: "acute pure motor GBS" EXACT [Orphanet:98918] synonym: "acute pure motor Guillain-Barre syndrome" EXACT [Orphanet:98918] synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918] synonym: "AMAN" EXACT ABBREVIATION [Orphanet:98918] +xref: GARD:19602 {source="Orphanet:98918"} xref: ICD10CM:G61.0 {source="Orphanet:98918/ntbt", source="Orphanet:98918"} xref: NCIT:C116929 {source="MONDO:equivalentTo"} xref: Orphanet:98918 {source="MONDO:equivalentTo"} @@ -387204,7 +405444,9 @@ replaced_by: MONDO:0005851 id: MONDO:0020351 name: Blake pouch cyst def: "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." [Orphanet:98922] +subset: gard_rare {source="GARD:19603"} subset: ordo_morphological_anomaly {source="Orphanet:98922"} +xref: GARD:19603 {source="Orphanet:98922"} xref: ICD10CM:Q03.1 {source="Orphanet:98922", source="Orphanet:98922/ntbt"} xref: Orphanet:98922 {source="MONDO:equivalentTo"} is_a: MONDO:0020134 {source="Orphanet:98922"} ! cystic malformation of the posterior fossa @@ -387213,9 +405455,11 @@ is_a: MONDO:0020134 {source="Orphanet:98922"} ! cystic malformation of the poste id: MONDO:0020352 name: multiple system atrophy, parkinsonian type def: "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." [Orphanet:98933] +subset: gard_rare {source="GARD:19604"} subset: ordo_clinical_subtype {source="Orphanet:98933"} synonym: "MSA, parkinsonian type" EXACT [Orphanet:98933] synonym: "MSA-p" EXACT [Orphanet:98933] +xref: GARD:19604 {source="Orphanet:98933"} xref: ICD10CM:G23.2 {source="Orphanet:98933", source="MONDO:directSiblingOf", source="Orphanet:98933/e"} xref: Orphanet:98933 {source="MONDO:equivalentTo"} xref: UMLS:CN207200 {source="MONDO:equivalentTo"} @@ -387234,10 +405478,12 @@ is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly id: MONDO:0020354 name: coloboma of choroid and retina def: "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." [Orphanet:98942] +subset: gard_rare {source="GARD:16875"} subset: ordo_morphological_anomaly {source="Orphanet:98942"} synonym: "choroidal coloboma" RELATED [GARD:0001432] synonym: "retinal coloboma" RELATED [GARD:0001432] synonym: "retinochoroidal coloboma" RELATED [GARD:0001432] +xref: GARD:16875 {source="Orphanet:98942"} xref: ICD10CM:Q14.8 {source="Orphanet:98942/attributed", source="Orphanet:98942/ntbt", source="Orphanet:98942"} xref: Orphanet:98942 {source="MONDO:equivalentTo"} xref: SCTID:39302008 {source="MONDO:equivalentTo"} @@ -387247,8 +405493,9 @@ property_value: confidence "0.045454545454545636" xsd:double [Term] id: MONDO:0020355 name: coloboma of eye lens -subset: gard_rare {source="GARD:0001433"} +subset: gard_rare {source="GARD:1433"} subset: ordo_morphological_anomaly {source="Orphanet:98943"} +xref: GARD:1433 {source="Orphanet:98943"} xref: ICD10CM:Q12.2 {source="Orphanet:98943", source="Orphanet:98943/e", source="Orphanet:98943/specific"} xref: Orphanet:98943 {source="MONDO:equivalentTo"} xref: UMLS:C0344516 {source="Orphanet:98943", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98943/e"} @@ -387259,10 +405506,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1433/colobom id: MONDO:0020356 name: coloboma of iris def: "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." [NCIT:C98879] +subset: gard_rare {source="GARD:1434"} subset: ordo_morphological_anomaly {source="Orphanet:98944"} synonym: "coloboma of iris" EXACT [MONDO:ambiguous] synonym: "coloboma of iris (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coloboma of the iris" EXACT [NCIT:C98879] +xref: GARD:1434 {source="Orphanet:98944"} xref: HP:0000612 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.0 {source="Orphanet:98944", source="Orphanet:98944/specific", source="Orphanet:98944/e"} xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"} @@ -387280,8 +405529,10 @@ property_value: IAO:0000589 "coloboma of iris (disease)" xsd:string id: MONDO:0020357 name: coloboma of eyelid def: "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." [NCIT:C98878] +subset: gard_rare {source="GARD:19605"} subset: ordo_morphological_anomaly {source="Orphanet:98946"} synonym: "coloboma of the eyelid" EXACT [NCIT:C98878] +xref: GARD:19605 {source="Orphanet:98946"} xref: ICD10CM:Q10.3 {source="Orphanet:98946/inclusion", source="Orphanet:98946", source="Orphanet:98946/ntbt"} xref: NCIT:C98878 {source="MONDO:equivalentTo"} xref: Orphanet:98946 {source="MONDO:equivalentTo"} @@ -387300,8 +405551,10 @@ replaced_by: MONDO:0007354 [Term] id: MONDO:0020359 name: congenital symblepharon +subset: gard_rare {source="GARD:19606"} subset: ordo_clinical_subtype {source="Orphanet:98948"} xref: DOID:0111720 {source="MONDO:equivalentTo"} +xref: GARD:19606 {source="Orphanet:98948"} xref: ICD10CM:Q11.2 {source="Orphanet:98948/attributed", source="Orphanet:98948/ntbt", source="Orphanet:98948"} xref: Orphanet:98948 {source="MONDO:equivalentTo"} xref: UMLS:C0152454 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98948"} @@ -387312,8 +405565,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020360 name: complete cryptophthalmia +subset: gard_rare {source="GARD:16876"} subset: ordo_clinical_subtype {source="Orphanet:98949"} xref: DOID:0111719 {source="MONDO:equivalentTo"} +xref: GARD:16876 {source="Orphanet:98949"} xref: ICD10CM:Q11.2 {source="Orphanet:98949", source="Orphanet:98949/attributed", source="Orphanet:98949/ntbt"} xref: Orphanet:98949 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia @@ -387321,8 +405576,10 @@ is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia [Term] id: MONDO:0020361 name: partial cryptophthalmia +subset: gard_rare {source="GARD:19607"} subset: ordo_clinical_subtype {source="Orphanet:98950"} xref: DOID:0111718 {source="MONDO:equivalentTo"} +xref: GARD:19607 {source="Orphanet:98950"} xref: ICD10CM:Q11.2 {source="Orphanet:98950", source="Orphanet:98950/attributed", source="Orphanet:98950/ntbt"} xref: Orphanet:98950 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia @@ -387331,7 +405588,9 @@ is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia id: MONDO:0020362 name: inverse Marcus-Gunn phenomenon def: "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." [Orphanet:98951] +subset: gard_rare {source="GARD:19608"} subset: ordo_clinical_subtype {source="Orphanet:98951"} +xref: GARD:19608 {source="Orphanet:98951"} xref: ICD10CM:Q07.8 {source="Orphanet:98951/attributed", source="Orphanet:98951/ntbt", source="Orphanet:98951"} xref: Orphanet:98951 {source="MONDO:equivalentTo"} xref: UMLS:CN207213 {source="MONDO:equivalentTo"} @@ -387340,7 +405599,9 @@ is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome [Term] id: MONDO:0020363 name: honey-droplet corneal dystrophy +subset: gard_rare {source="GARD:19609"} subset: ordo_disease {source="Orphanet:98958"} +xref: GARD:19609 {source="Orphanet:98958"} xref: ICD10CM:H18.5 {source="Orphanet:98958", source="Orphanet:98958/ntbt"} xref: Orphanet:98958 {source="MONDO:equivalentTo"} xref: UMLS:CN207218 {source="MONDO:equivalentTo"} @@ -387352,6 +405613,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare id: MONDO:0020364 name: posterior polymorphous corneal dystrophy def: "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." [Orphanet:98973] +subset: gard_rare {source="GARD:16882"} subset: ordo_disease {source="Orphanet:98973"} synonym: "corneal dystrophy, posterior polymorphous" EXACT [OMIMPS:122000] synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [DOID:0060457] @@ -387359,6 +405621,7 @@ synonym: "posterior polymorphous dystrophy" EXACT [Orphanet:98973] synonym: "PPCD" EXACT ABBREVIATION [DOID:0060457, Orphanet:98973] synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973] xref: DOID:0060457 {source="MONDO:equivalentTo"} +xref: GARD:16882 {source="Orphanet:98973"} xref: ICD10CM:H18.5 {source="Orphanet:98973/attributed", source="Orphanet:98973/ntbt", source="Orphanet:98973", source="DOID:0060457"} xref: MESH:C562745 {source="DOID:0060457"} xref: OMIMPS:122000 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -387373,12 +405636,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:122000"} ! inheri id: MONDO:0020365 name: congenital hereditary endothelial dystrophy type I def: "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." [Orphanet:98975] +subset: gard_rare {source="GARD:19610"} subset: ordo_disease {source="Orphanet:98975"} synonym: "autosomal dominant CHED" EXACT [Orphanet:98975] synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [Orphanet:98975] synonym: "CHED1" EXACT ABBREVIATION [Orphanet:98975] synonym: "CHEDI" EXACT ABBREVIATION [Orphanet:98975] synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975] +xref: GARD:19610 {source="Orphanet:98975"} xref: ICD10CM:H18.5 {source="Orphanet:98975/attributed", source="Orphanet:98975/ntbt", source="Orphanet:98975"} xref: OMIM:121700 {source="MONDO:equivalentObsolete", source="Orphanet:98975", source="Orphanet:98975/e"} xref: Orphanet:98975 {source="MONDO:equivalentTo"} @@ -387412,6 +405677,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020367 name: juvenile open angle glaucoma def: "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." [Orphanet:98977] +subset: gard_rare {source="GARD:16883"} subset: ordo_disease {source="Orphanet:98977"} synonym: "childhood glaucoma (disease)" EXACT [] synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood] @@ -387421,6 +405687,7 @@ synonym: "juvenile glaucoma" EXACT [] synonym: "paediatric glaucoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:1068 {source="MONDO:equivalentTo"} +xref: GARD:16883 {source="Orphanet:98977"} xref: ICD9:365.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064032 {source="Orphanet:98977", source="Orphanet:98977/e"} xref: Orphanet:98977 {source="MONDO:equivalentTo"} @@ -387436,7 +405703,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020368 name: Axenfeld anomaly def: "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies." [Orphanet:98978] +subset: gard_rare {source="GARD:16485"} subset: ordo_morphological_anomaly {source="Orphanet:98978"} +xref: GARD:16485 {source="Orphanet:98978"} xref: ICD10CM:Q15.0 {source="Orphanet:98978", source="Orphanet:98978/index", source="Orphanet:98978/ntbt"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058653 {source="Orphanet:98978", source="Orphanet:98978/e"} @@ -387452,12 +405721,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020369 name: Chandler syndrome def: "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." [Orphanet:98979] +subset: gard_rare {source="GARD:6033"} subset: ordo_clinical_subtype {source="Orphanet:98979"} synonym: "Chandler's syndrome" EXACT [DOID:11554, GARD:0006033] synonym: "dystrophy of corneal endothelium" EXACT [DOID:11554] synonym: "endothelial corneal dystrophy" EXACT [DOID:11554, ICD9CM:371.57] synonym: "posterior membrane corneal dystrophy" EXACT [DOID:11554] xref: DOID:11554 {source="MONDO:equivalentTo"} +xref: GARD:6033 {source="Orphanet:98979"} xref: ICD10CM:H18.51 {source="DOID:11554"} xref: ICD10CM:H21.2 {source="Orphanet:98979", source="Orphanet:98979/attributed", source="Orphanet:98979/ntbt"} xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"} @@ -387478,9 +405749,10 @@ is_a: MONDO:0018988 {source="Orphanet:98979"} ! iridocorneal endothelial syndrom id: MONDO:0020370 name: Cogan-Reese syndrome def: "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." [Orphanet:98980] -subset: gard_rare {source="GARD:0006125"} +subset: gard_rare {source="GARD:6125"} subset: ordo_clinical_subtype {source="Orphanet:98980"} xref: DOID:0060217 {source="MONDO:equivalentTo"} +xref: GARD:6125 {source="Orphanet:98980"} xref: ICD10CM:H21.2 {source="Orphanet:98980/attributed", source="Orphanet:98980/ntbt", source="Orphanet:98980"} xref: MedDRA:10059200 {source="Orphanet:98980/e", source="DOID:0060217", source="Orphanet:98980"} xref: NCIT:C84644 {source="MONDO:equivalentTo", source="DOID:0060217"} @@ -387496,7 +405768,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6125/cogan-r id: MONDO:0020371 name: essential iris atrophy def: "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." [Orphanet:98981] +subset: gard_rare {source="GARD:19611"} subset: ordo_clinical_subtype {source="Orphanet:98981"} +xref: GARD:19611 {source="Orphanet:98981"} xref: ICD10CM:H21.2 {source="Orphanet:98981/ntbt", source="Orphanet:98981/inclusion", source="Orphanet:98981"} xref: ICD9:364.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:98981 {source="MONDO:equivalentTo"} @@ -387508,8 +405782,10 @@ is_a: MONDO:0018988 {source="Orphanet:98981"} ! iridocorneal endothelial syndrom [Term] id: MONDO:0020372 name: early-onset sutural cataract +subset: gard_rare {source="GARD:16885"} subset: ordo_clinical_subtype {source="Orphanet:98985"} synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [Orphanet:98985] +xref: GARD:16885 {source="Orphanet:98985"} xref: ICD10CM:Q12.0 {source="Orphanet:98985", source="Orphanet:98985/attributed", source="Orphanet:98985/ntbt"} xref: Orphanet:98985 {source="MONDO:equivalentTo"} xref: UMLS:C1854021 {source="Orphanet:98985", source="MONDO:notFoundInDiseaseSubset"} @@ -387518,9 +405794,11 @@ is_a: MONDO:0020379 {source="Orphanet:98985"} ! early-onset zonular cataract [Term] id: MONDO:0020373 name: early-onset anterior polar cataract +subset: gard_rare {source="GARD:1140"} subset: ordo_clinical_subtype {source="Orphanet:98988"} synonym: "cataract anterior polar" RELATED [GARD:0001140] synonym: "early-onset anterior subcapsular cataract" EXACT [Orphanet:98988] +xref: GARD:1140 {source="Orphanet:98988"} xref: ICD10CM:Q12.0 {source="Orphanet:98988", source="Orphanet:98988/attributed", source="Orphanet:98988/ntbt"} xref: MESH:C538282 {source="Orphanet:98988", source="Orphanet:98988/e"} xref: Orphanet:98988 {source="MONDO:equivalentTo"} @@ -387531,10 +405809,12 @@ is_a: MONDO:0020377 {source="Orphanet:98988"} ! early-onset partial cataract id: MONDO:0020374 name: cerulean cataract def: "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." [Orphanet:98989] +subset: gard_rare {source="GARD:9508"} subset: ordo_clinical_subtype {source="Orphanet:98989"} synonym: "blue-dot cataract" EXACT [Orphanet:98989] synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508] synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508] +xref: GARD:9508 {source="Orphanet:98989"} xref: ICD10CM:Q12.0 {source="Orphanet:98989", source="Orphanet:98989/index", source="Orphanet:98989/ntbt"} xref: ICD9:743.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537955 {source="MONDO:equivalentTo", source="Orphanet:98989", source="Orphanet:98989/e"} @@ -387546,6 +405826,8 @@ is_a: MONDO:0020377 {source="Orphanet:98989"} ! early-onset partial cataract [Term] id: MONDO:0020375 name: obsolete coralliform cataract +subset: gard_rare {source="GARD:16886"} +xref: GARD:16886 {source="MONDO:obsoleteEquivalent", source="Orphanet:98990"} xref: ICD10CM:Q12.0 {source="Orphanet:98990/attributed", source="Orphanet:98990/ntbt", source="Orphanet:98990"} xref: Orphanet:98990 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN207246 {source="MONDO:obsoleteEquivalent"} @@ -387559,7 +405841,9 @@ is_obsolete: true [Term] id: MONDO:0020376 name: early-onset nuclear cataract +subset: gard_rare {source="GARD:16887"} subset: ordo_clinical_subtype {source="Orphanet:98991"} +xref: GARD:16887 {source="Orphanet:98991"} xref: ICD10CM:Q12.0 {source="Orphanet:98991/attributed", source="Orphanet:98991/ntbt", source="Orphanet:98991"} xref: MedDRA:10007759 {source="Orphanet:98991/e", source="Orphanet:98991"} xref: MedDRA:10057735 {source="Orphanet:98991/e", source="Orphanet:98991"} @@ -387573,7 +405857,9 @@ is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract [Term] id: MONDO:0020377 name: early-onset partial cataract +subset: gard_rare {source="GARD:16888"} subset: ordo_clinical_subtype {source="Orphanet:98992"} +xref: GARD:16888 {source="Orphanet:98992"} xref: ICD10CM:Q12.0 {source="Orphanet:98992/attributed", source="Orphanet:98992/ntbt", source="Orphanet:98992"} xref: Orphanet:98992 {source="MONDO:equivalentTo"} xref: UMLS:CN207248 {source="MONDO:equivalentTo"} @@ -387582,7 +405868,9 @@ is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic catara [Term] id: MONDO:0020378 name: early-onset posterior polar cataract +subset: gard_rare {source="GARD:16889"} subset: ordo_clinical_subtype {source="Orphanet:98993"} +xref: GARD:16889 {source="Orphanet:98993"} xref: ICD10CM:Q12.0 {source="Orphanet:98993", source="Orphanet:98993/attributed", source="Orphanet:98993/ntbt"} xref: Orphanet:98993 {source="MONDO:equivalentTo"} xref: UMLS:C0858617 {source="Orphanet:98993", source="MONDO:notFoundInDiseaseSubset"} @@ -387592,8 +405880,9 @@ property_value: confidence "3.3019579861886594" xsd:double [Term] id: MONDO:0020379 name: early-onset zonular cataract -subset: gard_rare {source="GARD:0001898"} +subset: gard_rare {source="GARD:1898"} subset: ordo_clinical_subtype {source="Orphanet:98995"} +xref: GARD:1898 {source="Orphanet:98995"} xref: ICD10CM:Q12.0 {source="Orphanet:98995/attributed", source="Orphanet:98995/ntbt", source="Orphanet:98995"} xref: MESH:C535342 {source="MONDO:relatedTo", source="Orphanet:98995", source="Orphanet:98995/e"} xref: Orphanet:98995 {source="MONDO:equivalentTo"} @@ -387607,7 +405896,7 @@ id: MONDO:0020380 name: autosomal dominant cerebellar ataxia def: "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." [https://orcid.org/0000-0001-5208-3432, Orphanet:99] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:4346"} subset: ordo_group_of_disorders {source="Orphanet:99"} synonym: "ADCA" EXACT ABBREVIATION [GARD:0004346, Orphanet:99] synonym: "autosomal dominant spinocerebellar ataxia" EXACT [Orphanet:99] @@ -387616,6 +405905,7 @@ synonym: "Pierre Marie cerebellar ataxia (formerly)" RELATED [GARD:0004346] synonym: "SCA" BROAD ABBREVIATION [] synonym: "spinocerebellar ataxia" BROAD [DOID:1441] xref: DOID:1441 {source="MONDO:equivalentTo"} +xref: GARD:4346 {source="Orphanet:99"} xref: ICD10CM:G11.8 {source="Orphanet:99/attributed", source="Orphanet:99/ntbt", source="Orphanet:99"} xref: ICD9:334.3 {source="DOID:1441", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020754 {source="DOID:1441"} @@ -387664,8 +405954,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020382 name: multifocal pattern dystrophy simulating fundus flavimaculatus def: "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99003] +subset: gard_rare {source="GARD:19612"} subset: ordo_disease {source="Orphanet:99003"} synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003] +xref: GARD:19612 {source="Orphanet:99003"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99003/attributed", source="Orphanet:99003/ntbt", source="Orphanet:99003"} xref: Orphanet:99003 {source="MONDO:equivalentTo"} xref: SCTID:723408004 {source="MONDO:equivalentTo"} @@ -387676,7 +405968,9 @@ is_a: MONDO:0018973 {source="Orphanet:99003"} ! patterned dystrophy of the retin id: MONDO:0020383 name: fundus pulverulentus def: "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." [Orphanet:99004] +subset: gard_rare {source="GARD:19613"} subset: ordo_disease {source="Orphanet:99004"} +xref: GARD:19613 {source="Orphanet:99004"} xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="Orphanet:99004/attributed", source="Orphanet:99004/ntbt"} xref: Orphanet:99004 {source="MONDO:equivalentTo"} xref: UMLS:CN207257 {source="MONDO:equivalentTo"} @@ -387697,9 +405991,11 @@ property_value: confidence "4.9333333333333345" xsd:double [Term] id: MONDO:0020385 name: congenitally uncorrected transposition of the great arteries with coarctation +subset: gard_rare {source="GARD:19614"} subset: ordo_clinical_subtype {source="Orphanet:99042"} synonym: "congenitally uncorrected transposition of the great vessels with coarctation" EXACT [Orphanet:99042] synonym: "TGA with coarctation" EXACT [Orphanet:99042] +xref: GARD:19614 {source="Orphanet:99042"} xref: ICD10CM:Q20.3 {source="Orphanet:99042/attributed", source="Orphanet:99042/ntbt", source="Orphanet:99042"} xref: Orphanet:99042 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:99042"} ! dextro-looped transposition of the great arteries @@ -387709,10 +406005,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020386 name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis +subset: gard_rare {source="GARD:19615"} subset: ordo_clinical_subtype {source="Orphanet:99043"} synonym: "DORV with subaortic or doubly committed VSD with pulmonary stenosis" EXACT [Orphanet:99043] synonym: "DORV, Fallot type" EXACT [Orphanet:99043] synonym: "double outlet right ventricle, Fallot type" EXACT [Orphanet:99043] +xref: GARD:19615 {source="Orphanet:99043"} xref: ICD10CM:Q20.1 {source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"} xref: ICD10CM:Q21.3 {source="MONDO:relatedTo", source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"} xref: Orphanet:99043 {source="MONDO:equivalentTo"} @@ -387723,11 +406021,13 @@ is_a: MONDO:0018089 {source="Orphanet:99043"} ! double outlet right ventricle [Term] id: MONDO:0020387 name: double outlet right ventricle with subpulmonary ventricular septal defect +subset: gard_rare {source="GARD:19616"} subset: ordo_clinical_subtype {source="Orphanet:99045"} synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045] synonym: "DORV-TGA" EXACT [Orphanet:99045] synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045] synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045] +xref: GARD:19616 {source="Orphanet:99045"} xref: ICD10CM:Q20.1 {source="Orphanet:99045/attributed", source="Orphanet:99045/ntbt", source="Orphanet:99045"} xref: Orphanet:99045 {source="MONDO:equivalentTo"} xref: SCTID:448794008 {source="MONDO:equivalentTo"} @@ -387739,8 +406039,10 @@ is_a: MONDO:0018089 {source="Orphanet:99045"} ! double outlet right ventricle [Term] id: MONDO:0020388 name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect +subset: gard_rare {source="GARD:19617"} subset: ordo_clinical_subtype {source="Orphanet:99046"} synonym: "DORV with non-committed subpulmonary VSD" EXACT [Orphanet:99046] +xref: GARD:19617 {source="Orphanet:99046"} xref: ICD10CM:Q20.1 {source="Orphanet:99046/attributed", source="Orphanet:99046/ntbt", source="Orphanet:99046"} xref: Orphanet:99046 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:99046"} ! double outlet right ventricle @@ -387748,11 +406050,13 @@ is_a: MONDO:0018089 {source="Orphanet:99046"} ! double outlet right ventricle [Term] id: MONDO:0020389 name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome +subset: gard_rare {source="GARD:19618"} subset: ordo_malformation_syndrome {source="Orphanet:99048"} synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" EXACT [Orphanet:99048] synonym: "APV/PDA, non-Fallot type" EXACT [Orphanet:99048] synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [Orphanet:99048] synonym: "PVA/PDA, non-Fallot type" EXACT [Orphanet:99048] +xref: GARD:19618 {source="Orphanet:99048"} xref: ICD10CM:Q22.2 {source="Orphanet:99048", source="Orphanet:99048/ntbt"} xref: Orphanet:99048 {source="MONDO:equivalentTo"} xref: UMLS:CN207270 {source="MONDO:equivalentTo"} @@ -387761,7 +406065,9 @@ is_a: MONDO:0020064 {source="Orphanet:99048"} ! pulmonary valve agenesis [Term] id: MONDO:0020390 name: pulmonary artery coming from patent ductus arteriosus +subset: gard_rare {source="GARD:19619"} subset: ordo_morphological_anomaly {source="Orphanet:99049"} +xref: GARD:19619 {source="Orphanet:99049"} xref: ICD10CM:Q25.7 {source="Orphanet:99049", source="Orphanet:99049/ntbt"} xref: Orphanet:99049 {source="MONDO:equivalentTo"} is_a: MONDO:0015239 {source="Orphanet:99049"} ! abnormal origin of the pulmonary artery @@ -387770,10 +406076,11 @@ is_a: MONDO:0015239 {source="Orphanet:99049"} ! abnormal origin of the pulmonary id: MONDO:0020391 name: pulmonary artery coming from the aorta def: "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life." [Orphanet:99050] -subset: gard_rare {source="GARD:0004586"} +subset: gard_rare {source="GARD:4586"} subset: ordo_morphological_anomaly {source="Orphanet:99050"} synonym: "abnormal origin of right or left pulmonary artery from the aorta" EXACT [Orphanet:99050] synonym: "hemitruncus arteriosus" EXACT [Orphanet:99050] +xref: GARD:4586 {source="Orphanet:99050"} xref: ICD10CM:Q25.7 {source="Orphanet:99050", source="Orphanet:99050/ntbt"} xref: Orphanet:99050 {source="MONDO:equivalentTo"} is_a: MONDO:0015239 {source="Orphanet:99050"} ! abnormal origin of the pulmonary artery @@ -387782,6 +406089,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4586/pulmona [Term] id: MONDO:0020392 name: obsolete discrete fixed membranous subaortic stenosis +subset: gard_rare {source="GARD:16892"} +xref: GARD:16892 {source="MONDO:obsoleteEquivalent", source="Orphanet:99051"} xref: ICD10CM:Q24.4 {source="Orphanet:99051", source="Orphanet:99051/ntbt"} xref: Orphanet:99051 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -387793,7 +406102,9 @@ is_obsolete: true [Term] id: MONDO:0020393 name: discrete fibromuscular subaortic stenosis +subset: gard_rare {source="GARD:19620"} subset: ordo_clinical_subtype {source="Orphanet:99052"} +xref: GARD:19620 {source="Orphanet:99052"} xref: ICD10CM:Q24.4 {source="Orphanet:99052", source="Orphanet:99052/ntbt"} xref: Orphanet:99052 {source="MONDO:equivalentTo"} is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis @@ -387801,7 +406112,9 @@ is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis [Term] id: MONDO:0020394 name: tunnel subaortic stenosis +subset: gard_rare {source="GARD:19621"} subset: ordo_clinical_subtype {source="Orphanet:99053"} +xref: GARD:19621 {source="Orphanet:99053"} xref: ICD10CM:Q24.4 {source="Orphanet:99053/ntbt", source="Orphanet:99053"} xref: Orphanet:99053 {source="MONDO:equivalentTo"} is_a: MONDO:0017727 {source="Orphanet:99053"} ! fixed subaortic stenosis @@ -387810,7 +406123,9 @@ is_a: MONDO:0017727 {source="Orphanet:99053"} ! fixed subaortic stenosis id: MONDO:0020395 name: valvar pulmonary stenosis def: "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." [ICD9:746.02] +subset: gard_rare {source="GARD:19622"} subset: ordo_clinical_subtype {source="Orphanet:99054"} +xref: GARD:19622 {source="Orphanet:99054"} xref: ICD10CM:Q22.1 {source="Orphanet:99054", source="Orphanet:99054/ntbt"} xref: ICD9:746.02 {source="MONDO:equivalentTo"} xref: MedDRA:10037450 {source="Orphanet:99054/e", source="Orphanet:99054"} @@ -387823,7 +406138,9 @@ is_a: MONDO:0017865 {source="Orphanet:99054"} ! congenital pulmonary valve steno id: MONDO:0020396 name: anomaly of the tricuspid valve chordae def: "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." [Orphanet:99055] +subset: gard_rare {source="GARD:19623"} subset: ordo_morphological_anomaly {source="Orphanet:99055"} +xref: GARD:19623 {source="Orphanet:99055"} xref: ICD10CM:Q22.8 {source="Orphanet:99055/ntbt", source="Orphanet:99055"} xref: Orphanet:99055 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559"} ! cardiovascular disorder @@ -387836,7 +406153,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020397 name: parachute tricuspid valve def: "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." [Orphanet:99056] +subset: gard_rare {source="GARD:19624"} subset: ordo_morphological_anomaly {source="Orphanet:99056"} +xref: GARD:19624 {source="Orphanet:99056"} xref: ICD10CM:Q22.8 {source="Orphanet:99056/ntbt", source="Orphanet:99056"} xref: Orphanet:99056 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder @@ -387849,12 +406168,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020398 name: congenital mitral stenosis def: "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure." [Orphanet:99057] -subset: gard_rare +subset: gard_rare {source="GARD:1496"} subset: ordo_morphological_anomaly {source="Orphanet:99057"} synonym: "congenital mitral stenosis" EXACT [MONDO:ambiguous] synonym: "congenital mitral stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital mitral valve stenosis" EXACT [] synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary] +xref: GARD:1496 {source="Orphanet:99057"} xref: HP:0011570 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q23.2 {source="Orphanet:99057/e", source="MONDO:equivalentTo", source="Orphanet:99057"} xref: ICD9:746.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -387872,7 +406192,9 @@ property_value: IAO:0000589 "congenital mitral stenosis (disease)" xsd:string id: MONDO:0020399 name: congenital hypoplasia of the mitral valve annulus def: "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." [Orphanet:99058] +subset: gard_rare {source="GARD:19625"} subset: ordo_morphological_anomaly {source="Orphanet:99058"} +xref: GARD:19625 {source="Orphanet:99058"} xref: ICD10CM:Q23.2 {source="Orphanet:99058/ntbt", source="MONDO:directSiblingOf", source="Orphanet:99058"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99058 {source="MONDO:equivalentTo"} @@ -387887,7 +406209,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020400 name: congenital supravalvular mitral ring def: "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." [Orphanet:99059] +subset: gard_rare {source="GARD:19626"} subset: ordo_morphological_anomaly {source="Orphanet:99059"} +xref: GARD:19626 {source="Orphanet:99059"} xref: ICD10CM:Q23.2 {source="Orphanet:99059", source="Orphanet:99059/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:99059 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99059"} ! congenital mitral valve insufficiency and/or stenosis @@ -387898,7 +406222,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020401 name: congenital unguarded mitral orifice def: "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." [Orphanet:99060] +subset: gard_rare {source="GARD:19627"} subset: ordo_morphological_anomaly {source="Orphanet:99060"} +xref: GARD:19627 {source="Orphanet:99060"} xref: ICD10CM:Q23.3 {source="Orphanet:99060", source="Orphanet:99060/ntbt"} xref: Orphanet:99060 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99060"} ! congenital mitral valve insufficiency and/or stenosis @@ -387909,7 +406235,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020402 name: congenital accessory mitral valve tissue def: "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." [Orphanet:99061] +subset: gard_rare {source="GARD:19628"} subset: ordo_morphological_anomaly {source="Orphanet:99061"} +xref: GARD:19628 {source="Orphanet:99061"} xref: ICD10CM:Q23.8 {source="Orphanet:99061", source="Orphanet:99061/ntbt"} xref: Orphanet:99061 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99061"} ! congenital mitral valve insufficiency and/or stenosis @@ -387918,7 +406246,9 @@ is_a: MONDO:0019817 {source="Orphanet:99061"} ! congenital mitral valve insuffic id: MONDO:0020403 name: congenital mitral valve agenesis def: "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." [Orphanet:99062] +subset: gard_rare {source="GARD:19629"} subset: ordo_morphological_anomaly {source="Orphanet:99062"} +xref: GARD:19629 {source="Orphanet:99062"} xref: ICD10CM:Q23.3 {source="Orphanet:99062", source="Orphanet:99062/ntbt"} xref: Orphanet:99062 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99062"} ! congenital mitral valve insufficiency and/or stenosis @@ -387927,9 +406257,11 @@ is_a: MONDO:0019817 {source="Orphanet:99062"} ! congenital mitral valve insuffic id: MONDO:0020404 name: shone complex def: "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." [NCIT:C99058] +subset: gard_rare {source="GARD:19630"} subset: ordo_malformation_syndrome {source="Orphanet:99063"} synonym: "shone syndrome" EXACT [NCIT:C99058] synonym: "shone's syndrome (greater than 3 sites)" EXACT [NCIT:C99058] +xref: GARD:19630 {source="Orphanet:99063"} xref: ICD10CM:Q23.8 {source="Orphanet:99063", source="Orphanet:99063/ntbt"} xref: ICD9:746.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066802 {source="Orphanet:99063", source="Orphanet:99063/e"} @@ -387944,7 +406276,9 @@ is_a: MONDO:0024239 {source="NCIT:C99058"} ! congenital anomaly of cardiovascula [Term] id: MONDO:0020405 name: straddling and/or overriding mitral valve +subset: gard_rare {source="GARD:19631"} subset: ordo_clinical_subtype {source="Orphanet:99064"} +xref: GARD:19631 {source="Orphanet:99064"} xref: ICD10CM:Q23.8 {source="Orphanet:99064/ntbt", source="Orphanet:99064"} xref: Orphanet:99064 {source="MONDO:equivalentTo"} is_a: MONDO:0019818 {source="Orphanet:99064"} ! cleft mitral valve @@ -387964,10 +406298,12 @@ is_a: MONDO:0015273 {source="Orphanet:99066"} ! complete atrioventricular canal [Term] id: MONDO:0020407 name: complete atrioventricular canal-ventricle hypoplasia syndrome +subset: gard_rare {source="GARD:16893"} subset: ordo_clinical_subtype {source="Orphanet:99067"} synonym: "CAVC type B" EXACT [Orphanet:99067] synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [Orphanet:99067] synonym: "complete atrioventricular canal type B" EXACT [Orphanet:99067] +xref: GARD:16893 {source="Orphanet:99067"} xref: ICD10CM:Q21.2 {source="Orphanet:99067/attributed", source="Orphanet:99067/ntbt", source="Orphanet:99067"} xref: Orphanet:99067 {source="MONDO:equivalentTo"} xref: UMLS:CN207279 {source="MONDO:equivalentTo"} @@ -387976,10 +406312,12 @@ is_a: MONDO:0015273 {source="Orphanet:99067"} ! complete atrioventricular canal [Term] id: MONDO:0020408 name: complete atrioventricular canal-tetralogy of fallot syndrome +subset: gard_rare {source="GARD:16894"} subset: ordo_clinical_subtype {source="Orphanet:99068"} synonym: "CAVC type C" EXACT [Orphanet:99068] synonym: "CAVC-Fallot tetralogy syndrome" EXACT [Orphanet:99068] synonym: "complete atrioventricular canal type C" EXACT [Orphanet:99068] +xref: GARD:16894 {source="Orphanet:99068"} xref: ICD10CM:Q21.2 {source="Orphanet:99068/attributed", source="Orphanet:99068/ntbt", source="Orphanet:99068"} xref: Orphanet:99068 {source="MONDO:equivalentTo"} xref: UMLS:CN207280 {source="MONDO:equivalentTo"} @@ -387996,7 +406334,9 @@ is_a: MONDO:0015451 {source="Orphanet:99069"} ! univentricular heart [Term] id: MONDO:0020410 name: aorto-right ventricular tunnel +subset: gard_rare {source="GARD:19632"} subset: ordo_clinical_subtype {source="Orphanet:99070"} +xref: GARD:19632 {source="Orphanet:99070"} xref: ICD10CM:Q20.8 {source="Orphanet:99070/ntbt", source="Orphanet:99070"} xref: Orphanet:99070 {source="MONDO:equivalentTo"} xref: UMLS:C0345055 {source="Orphanet:99070", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99070/e"} @@ -388005,7 +406345,9 @@ is_a: MONDO:0018082 {source="Orphanet:99070"} ! aorto-ventricular tunnel [Term] id: MONDO:0020411 name: aorto-left ventricular tunnel +subset: gard_rare {source="GARD:19633"} subset: ordo_clinical_subtype {source="Orphanet:99071"} +xref: GARD:19633 {source="Orphanet:99071"} xref: ICD10CM:Q20.8 {source="Orphanet:99071", source="Orphanet:99071/ntbt"} xref: Orphanet:99071 {source="MONDO:equivalentTo"} xref: UMLS:C0345054 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99071", source="Orphanet:99071/e"} @@ -388015,7 +406357,9 @@ is_a: MONDO:0018082 {source="Orphanet:99071"} ! aorto-ventricular tunnel id: MONDO:0020412 name: congenital patent ductus arteriosus aneurysm def: "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." [Orphanet:99072] +subset: gard_rare {source="GARD:19634"} subset: ordo_morphological_anomaly {source="Orphanet:99072"} +xref: GARD:19634 {source="Orphanet:99072"} xref: ICD10CM:Q25.8 {source="Orphanet:99072", source="Orphanet:99072/ntbt"} xref: Orphanet:99072 {source="MONDO:equivalentTo"} xref: SCTID:763316006 {source="MONDO:equivalentTo"} @@ -388031,7 +406375,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020413 name: encircling double aortic arch def: "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." [Orphanet:99075] +subset: gard_rare {source="GARD:19635"} subset: ordo_morphological_anomaly {source="Orphanet:99075"} +xref: GARD:19635 {source="Orphanet:99075"} xref: ICD10CM:Q25.4 {source="Orphanet:99075/ntbt", source="Orphanet:99075"} xref: Orphanet:99075 {source="MONDO:equivalentTo"} xref: SCTID:764521002 {source="MONDO:equivalentTo"} @@ -388040,7 +406386,9 @@ is_a: MONDO:0015236 {source="Orphanet:99075"} ! aortic arch defects [Term] id: MONDO:0020414 name: persistent fifth aortic arch +subset: gard_rare {source="GARD:19636"} subset: ordo_morphological_anomaly {source="Orphanet:99076"} +xref: GARD:19636 {source="Orphanet:99076"} xref: ICD10CM:Q25.4 {source="Orphanet:99076", source="Orphanet:99076/ntbt"} xref: Orphanet:99076 {source="MONDO:equivalentTo"} xref: UMLS:C0345066 {source="Orphanet:99076/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99076"} @@ -388050,7 +406398,9 @@ is_a: MONDO:0015236 {source="Orphanet:99076"} ! aortic arch defects id: MONDO:0020415 name: Kommerell diverticulum def: "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." [Orphanet:99077] +subset: gard_rare {source="GARD:19637"} subset: ordo_morphological_anomaly {source="Orphanet:99077"} +xref: GARD:19637 {source="Orphanet:99077"} xref: ICD10CM:Q25.4 {source="Orphanet:99077/ntbt", source="Orphanet:99077"} xref: Orphanet:99077 {source="MONDO:equivalentTo"} xref: SCTID:74561007 {source="MONDO:equivalentTo"} @@ -388061,7 +406411,9 @@ is_a: MONDO:0015236 {source="Orphanet:99077"} ! aortic arch defects id: MONDO:0020416 name: Neuhauser anomaly def: "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." [Orphanet:99078] +subset: gard_rare {source="GARD:19638"} subset: ordo_morphological_anomaly {source="Orphanet:99078"} +xref: GARD:19638 {source="Orphanet:99078"} xref: ICD10CM:Q25.4 {source="Orphanet:99078/ntbt", source="Orphanet:99078"} xref: Orphanet:99078 {source="MONDO:equivalentTo"} xref: SCTID:766751007 {source="MONDO:equivalentTo"} @@ -388071,9 +406423,11 @@ is_a: MONDO:0015236 {source="Orphanet:99078"} ! aortic arch defects id: MONDO:0020417 name: right aortic arch def: "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." [NCIT:C103917] +subset: gard_rare {source="GARD:19640"} subset: ordo_morphological_anomaly {source="Orphanet:99081"} synonym: "right aortic arch" EXACT [MONDO:ambiguous] synonym: "right aortic arch (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19640 {source="Orphanet:99081"} xref: HP:0012020 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.4 {source="Orphanet:99081/ntbt", source="Orphanet:99081"} xref: MedDRA:10067407 {source="Orphanet:99081", source="Orphanet:99081/e"} @@ -388087,7 +406441,9 @@ property_value: IAO:0000589 "right aortic arch (disease)" xsd:string [Term] id: MONDO:0020418 name: dysphagia lusoria +subset: gard_rare {source="GARD:19641"} subset: ordo_morphological_anomaly {source="Orphanet:99082"} +xref: GARD:19641 {source="Orphanet:99082"} xref: ICD10CM:Q25.4 {source="Orphanet:99082", source="Orphanet:99082/ntbt"} xref: ICD9:787.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99082 {source="MONDO:equivalentTo"} @@ -388098,9 +406454,11 @@ is_a: MONDO:0015236 {source="Orphanet:99082"} ! aortic arch defects [Term] id: MONDO:0020419 name: pulmonary artery hypoplasia +subset: gard_rare {source="GARD:19642"} subset: ordo_morphological_anomaly {source="Orphanet:99083"} synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous] synonym: "pulmonary artery hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +xref: GARD:19642 {source="Orphanet:99083"} xref: HP:0004971 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.7 {source="Orphanet:99083", source="Orphanet:99083/ntbt"} xref: Orphanet:99083 {source="MONDO:equivalentTo"} @@ -388116,10 +406474,12 @@ property_value: IAO:0000589 "pulmonary artery hypoplasia (disease)" xsd:string id: MONDO:0020420 name: pulmonary branch stenosis def: "Narrowing of the lumen of the right or left pulmonary artery branch." [NCIT:C99144] +subset: gard_rare {source="GARD:4589"} subset: ordo_morphological_anomaly {source="Orphanet:99084"} synonym: "branch pulmonary artery stenosis" EXACT [Orphanet:99084] synonym: "peripheral pulmonary stenosis" RELATED [Orphanet:99084] synonym: "pulmonary artery stenosis, branch (not PPS)" EXACT [NCIT:C99144] +xref: GARD:4589 {source="Orphanet:99084"} xref: ICD10CM:Q25.6 {source="Orphanet:99084", source="Orphanet:99084/e"} xref: NCIT:C99144 {source="MONDO:equivalentTo"} xref: Orphanet:99084 {source="MONDO:equivalentTo"} @@ -388156,9 +406516,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020423 name: stenosis or atrophy of the coronary ostium +subset: gard_rare {source="GARD:19643"} subset: ordo_morphological_anomaly {source="Orphanet:99087"} synonym: "coronary ostial stenosis or atresia" EXACT [Orphanet:99087] synonym: "stenosis or atresia of the coronary ostium" RELATED [Orphanet:99087] +xref: GARD:19643 {source="Orphanet:99087"} xref: ICD10CM:Q24.5 {source="Orphanet:99087", source="Orphanet:99087/ntbt"} xref: Orphanet:99087 {source="MONDO:equivalentTo"} is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation @@ -388182,7 +406544,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020425 name: abnormal number of coronary ostia +subset: gard_rare {source="GARD:19644"} subset: ordo_morphological_anomaly {source="Orphanet:99089"} +xref: GARD:19644 {source="Orphanet:99089"} xref: ICD10CM:Q24.5 {source="Orphanet:99089/ntbt", source="Orphanet:99089"} xref: Orphanet:99089 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder @@ -388195,7 +406559,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020426 name: malposition of the coronary ostium def: "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." [Orphanet:99090] +subset: gard_rare {source="GARD:19645"} subset: ordo_morphological_anomaly {source="Orphanet:99090"} +xref: GARD:19645 {source="Orphanet:99090"} xref: ICD10CM:Q24.5 {source="Orphanet:99090", source="Orphanet:99090/ntbt"} xref: Orphanet:99090 {source="MONDO:equivalentTo"} is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation @@ -388207,9 +406573,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020427 name: Laubry-Pezzi syndrome def: "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." [Orphanet:99094] +subset: gard_rare {source="GARD:19646"} subset: ordo_morphological_anomaly {source="Orphanet:99094"} synonym: "ventricular septal defect with aortic insufficiency" EXACT [Orphanet:99094] synonym: "VSD with aortic insufficiency" EXACT [Orphanet:99094] +xref: GARD:19646 {source="Orphanet:99094"} xref: ICD10CM:Q21.0 {source="Orphanet:99094", source="Orphanet:99094/ntbt"} xref: Orphanet:99094 {source="MONDO:equivalentTo"} xref: SCTID:764955006 {source="MONDO:equivalentTo"} @@ -388221,9 +406589,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020428 name: congenital Gerbode defect +subset: gard_rare {source="GARD:19647"} subset: ordo_morphological_anomaly {source="Orphanet:99095"} synonym: "Gerbode defect" EXACT [Orphanet:99095] synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095] +xref: GARD:19647 {source="Orphanet:99095"} xref: ICD10CM:Q21.0 {source="Orphanet:99095", source="Orphanet:99095/ntbt"} xref: Orphanet:99095 {source="MONDO:equivalentTo"} xref: SCTID:204312002 {source="MONDO:equivalentTo"} @@ -388234,11 +406604,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020429 name: cor triatriatum dexter +subset: gard_rare {source="GARD:12483"} subset: ordo_morphological_anomaly {source="Orphanet:99098"} synonym: "cor triatriatum dexter" EXACT [MONDO:ambiguous] synonym: "cor triatriatum dexter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cor triatriatum dextrum" EXACT [Orphanet:99098] synonym: "divided right atrium" EXACT [Orphanet:99098] +xref: GARD:12483 {source="Orphanet:99098"} xref: HP:0011566 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.2 {source="Orphanet:99098", source="Orphanet:99098/ntbt"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -388251,10 +406623,11 @@ property_value: IAO:0000589 "cor triatriatum dexter (disease)" xsd:string id: MONDO:0020430 name: cor triatriatum sinister def: "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." [https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister] -subset: gard_rare {source="GARD:0012484"} +subset: gard_rare {source="GARD:12484"} subset: ordo_morphological_anomaly {source="Orphanet:99099"} synonym: "cor triatriatum sinistrum" EXACT [Orphanet:99099] synonym: "divided left atrium" EXACT [Orphanet:99099] +xref: GARD:12484 {source="Orphanet:99099"} xref: ICD10CM:Q24.2 {source="Orphanet:99099/ntbt", source="Orphanet:99099"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99099 {source="MONDO:equivalentTo"} @@ -388266,8 +406639,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12484/cor-tr id: MONDO:0020431 name: juxtaposition of the atrial appendages def: "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." [Orphanet:99100] +subset: gard_rare {source="GARD:19648"} subset: ordo_morphological_anomaly {source="Orphanet:99100"} synonym: "juxtaposition of the atrial auricles" EXACT [Orphanet:99100] +xref: GARD:19648 {source="Orphanet:99100"} xref: ICD10CM:Q20.8 {source="Orphanet:99100/ntbt", source="Orphanet:99100"} xref: Orphanet:99100 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation @@ -388279,10 +406654,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020432 name: ectasia of the right atrial appendage def: "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." [Orphanet:99101] +subset: gard_rare {source="GARD:19649"} subset: ordo_morphological_anomaly {source="Orphanet:99101"} synonym: "dilatation of the right atrial appendage" EXACT [Orphanet:99101] synonym: "dilatation of the right atrial auricle" EXACT [Orphanet:99101] synonym: "ectasia of the right atrial auricle" EXACT [Orphanet:99101] +xref: GARD:19649 {source="Orphanet:99101"} xref: ICD10CM:Q20.8 {source="Orphanet:99101/ntbt", source="Orphanet:99101"} xref: Orphanet:99101 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation @@ -388294,12 +406671,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020433 name: ectasia of the left appendage def: "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." [Orphanet:99102] +subset: gard_rare {source="GARD:19650"} subset: ordo_morphological_anomaly {source="Orphanet:99102"} synonym: "dilatation of the left appendage" EXACT [Orphanet:99102] synonym: "dilatation of the left atrial appendage" EXACT [Orphanet:99102] synonym: "dilatation of the left auricle" EXACT [Orphanet:99102] synonym: "ectasia of the left atrial appendage" RELATED [Orphanet:99102] synonym: "ectasia of the left auricle" EXACT [Orphanet:99102] +xref: GARD:19650 {source="Orphanet:99102"} xref: ICD10CM:Q20.8 {source="Orphanet:99102/ntbt", source="Orphanet:99102"} xref: Orphanet:99102 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation @@ -388310,12 +406689,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020434 name: atrial septal defect, ostium secundum type +subset: gard_rare {source="GARD:5865"} subset: ordo_clinical_subtype {source="Orphanet:99103"} synonym: "ASD ostium secundum type" RELATED [GARD:0005865] synonym: "ASD, ostium secundum type" EXACT [Orphanet:99103] synonym: "osASD" RELATED [GARD:0005865] synonym: "ostium secundum ASD" RELATED [GARD:0005865] synonym: "ostium secundum atrial septal defect" RELATED [GARD:0005865] +xref: GARD:5865 {source="Orphanet:99103"} xref: ICD10CM:Q21.1 {source="Orphanet:99103", source="Orphanet:99103/ntbt", source="Orphanet:99103/inclusion"} xref: MedDRA:10031302 {source="Orphanet:99103", source="Orphanet:99103/e"} xref: MedDRA:10031303 {source="Orphanet:99103", source="Orphanet:99103/e"} @@ -388326,13 +406707,14 @@ is_a: MONDO:0006664 {source="Orphanet:99103"} ! atrial septal defect [Term] id: MONDO:0020435 name: atrial septal defect, coronary sinus type -subset: gard_rare +subset: gard_rare {source="GARD:10697"} subset: ordo_clinical_subtype {source="Orphanet:99104"} synonym: "ASD coronary sinus" RELATED [GARD:0010697] synonym: "ASD, coronary sinus type" EXACT [Orphanet:99104] synonym: "atrial septal defect coronary sinus" EXACT [MONDO:0022512] synonym: "coronary sinus atrial septal defects" RELATED [GARD:0010697] synonym: "unroofed coronary sinus" EXACT [Orphanet:99104] +xref: GARD:10697 {source="Orphanet:99104"} xref: ICD10CM:Q21.1 {source="Orphanet:99104", source="Orphanet:99104/ntbt", source="Orphanet:99104/inclusion"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99104 {source="MONDO:equivalentTo"} @@ -388346,11 +406728,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10697/atrial [Term] id: MONDO:0020436 name: atrial septal defect, sinus venosus type +subset: gard_rare {source="GARD:10696"} subset: ordo_clinical_subtype {source="Orphanet:99105"} synonym: "ASD, sinus venosus type" EXACT [Orphanet:99105] synonym: "atrial septal defect sinus venosus" RELATED [GARD:0010696] synonym: "sinus venosus ASD" RELATED [GARD:0010696] synonym: "sinus venosus atrial septal defects" RELATED [GARD:0010696] +xref: GARD:10696 {source="Orphanet:99105"} xref: ICD10CM:Q21.1 {source="Orphanet:99105/ntbt", source="Orphanet:99105", source="Orphanet:99105/inclusion"} xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="Orphanet:99105/e"} xref: Orphanet:99105 {source="MONDO:equivalentTo"} @@ -388362,6 +406746,7 @@ is_a: MONDO:0006664 {source="MESH:C548009", source="Orphanet:99105"} ! atrial se id: MONDO:0020437 name: atrial septal defect, ostium primum type def: "Atrioventricular septal defect with communication at the atrial level only." [PMID:34304616] +subset: gard_rare {source="GARD:10695"} subset: ordo_clinical_subtype {source="Orphanet:99106"} synonym: "ASD ostium primum type" EXACT [GARD:0010695] synonym: "ASD, ostium primum type" EXACT [Orphanet:99106] @@ -388376,6 +406761,7 @@ synonym: "partial atrioventricular septal defect: ostium primum type" EXACT [PMI synonym: "PAVC" EXACT ABBREVIATION [PMID:34304616] synonym: "PAVSD" EXACT ABBREVIATION [] synonym: "primum atrial septal defect" EXACT [PMID:34304616] +xref: GARD:10695 {source="Orphanet:99106"} xref: ICD10CM:Q21.2 {source="Orphanet:99106/inclusion", source="Orphanet:99106", source="Orphanet:99106/ntbt"} xref: MESH:C548006 {source="Orphanet:99106", source="MONDO:equivalentObsolete", source="Orphanet:99106/e"} xref: MESH:D006344 {xref="MONDO:equivalentTo"} @@ -388389,7 +406775,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020438 name: atrial septal aneurysm +subset: gard_rare {source="GARD:19651"} subset: ordo_morphological_anomaly {source="Orphanet:99107"} +xref: GARD:19651 {source="Orphanet:99107"} xref: ICD10CM:Q21.1 {source="Orphanet:99107/ntbt", source="Orphanet:99107"} xref: Orphanet:99107 {source="MONDO:equivalentTo"} xref: SCTID:95440004 {source="MONDO:equivalentTo"} @@ -388432,10 +406820,12 @@ property_value: IAO:0000589 "patent foramen ovale (disease)" xsd:string id: MONDO:0020440 name: persistent left superior vena cava connecting to the left-sided atrium def: "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." [Orphanet:99109] +subset: gard_rare {source="GARD:19652"} subset: ordo_morphological_anomaly {source="Orphanet:99109"} synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [Orphanet:99109] synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [Orphanet:99109] synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [Orphanet:99109] +xref: GARD:19652 {source="Orphanet:99109"} xref: ICD10CM:Q26.1 {source="Orphanet:99109", source="Orphanet:99109/ntbt"} xref: Orphanet:99109 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99109"} ! congenital anomaly of superior vena cava @@ -388444,9 +406834,11 @@ is_a: MONDO:0019829 {source="Orphanet:99109"} ! congenital anomaly of superior v id: MONDO:0020441 name: right superior vena cava connecting to left-sided atrium def: "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." [Orphanet:99110] +subset: gard_rare {source="GARD:19653"} subset: ordo_morphological_anomaly {source="Orphanet:99110"} synonym: "right superior caval vein connecting to left-sided atrium" EXACT [Orphanet:99110] synonym: "right SVC connecting to left-sided atrium" EXACT [Orphanet:99110] +xref: GARD:19653 {source="Orphanet:99110"} xref: ICD10CM:Q26.8 {source="Orphanet:99110/ntbt", source="Orphanet:99110"} xref: Orphanet:99110 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99110"} ! congenital anomaly of superior vena cava @@ -388454,9 +406846,11 @@ is_a: MONDO:0019829 {source="Orphanet:99110"} ! congenital anomaly of superior v [Term] id: MONDO:0020442 name: left superior vena cava persisting to left-sided atrium +subset: gard_rare {source="GARD:19654"} subset: ordo_morphological_anomaly {source="Orphanet:99111"} synonym: "left superior caval vein persisting to left-sided atrium" EXACT [Orphanet:99111] synonym: "left SVC persisting to left-sided atrium" EXACT [Orphanet:99111] +xref: GARD:19654 {source="Orphanet:99111"} xref: ICD10CM:Q26.1 {source="Orphanet:99111/ntbt", source="Orphanet:99111"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99111 {source="MONDO:equivalentTo"} @@ -388467,8 +406861,10 @@ is_a: MONDO:0019829 {source="Orphanet:99111"} ! congenital anomaly of superior v id: MONDO:0020443 name: absence of innominate vein def: "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." [Orphanet:99112] +subset: gard_rare {source="GARD:19655"} subset: ordo_morphological_anomaly {source="Orphanet:99112"} synonym: "absence of brachiocephalic vein" EXACT [Orphanet:99112] +xref: GARD:19655 {source="Orphanet:99112"} xref: ICD10CM:Q26.8 {source="Orphanet:99112/ntbt", source="Orphanet:99112"} xref: Orphanet:99112 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99112"} ! congenital anomaly of superior vena cava @@ -388477,8 +406873,10 @@ is_a: MONDO:0019829 {source="Orphanet:99112"} ! congenital anomaly of superior v id: MONDO:0020444 name: subaortic course of innominate vein def: "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." [Orphanet:99113] +subset: gard_rare {source="GARD:19656"} subset: ordo_morphological_anomaly {source="Orphanet:99113"} synonym: "subaortic course of brachiocephalic vein" EXACT [Orphanet:99113] +xref: GARD:19656 {source="Orphanet:99113"} xref: ICD10CM:Q26.8 {source="Orphanet:99113/ntbt", source="Orphanet:99113"} xref: Orphanet:99113 {source="MONDO:equivalentTo"} xref: SCTID:766756002 {source="MONDO:equivalentTo"} @@ -388488,12 +406886,14 @@ is_a: MONDO:0019829 {source="Orphanet:99113"} ! congenital anomaly of superior v id: MONDO:0020445 name: agenesis of the superior vena cava def: "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." [Orphanet:99114] +subset: gard_rare {source="GARD:19657"} subset: ordo_morphological_anomaly {source="Orphanet:99114"} synonym: "absence of the superior caval vein" EXACT [Orphanet:99114] synonym: "absence of the superior vena cava" EXACT [Orphanet:99114] synonym: "absence of the SVC" EXACT [Orphanet:99114] synonym: "agenesis of the superior caval vein" EXACT [Orphanet:99114] synonym: "agenesis of the SVC" EXACT [Orphanet:99114] +xref: GARD:19657 {source="Orphanet:99114"} xref: ICD10CM:Q26.8 {source="Orphanet:99114", source="Orphanet:99114/ntbt"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99114 {source="MONDO:equivalentTo"} @@ -388503,7 +406903,9 @@ is_a: MONDO:0019829 {source="Orphanet:99114"} ! congenital anomaly of superior v [Term] id: MONDO:0020446 name: coronary sinus stenosis +subset: gard_rare {source="GARD:19658"} subset: ordo_morphological_anomaly {source="Orphanet:99117"} +xref: GARD:19658 {source="Orphanet:99117"} xref: ICD10CM:Q21.1 {source="Orphanet:99117", source="Orphanet:99117/ntbt"} xref: Orphanet:99117 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder @@ -388514,7 +406916,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020447 name: coronary sinus atresia +subset: gard_rare {source="GARD:19659"} subset: ordo_morphological_anomaly {source="Orphanet:99118"} +xref: GARD:19659 {source="Orphanet:99118"} xref: ICD10CM:Q21.1 {source="Orphanet:99118/ntbt", source="Orphanet:99118"} xref: Orphanet:99118 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder @@ -388526,9 +406930,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020448 name: right inferior vena cava connecting to left-sided atrium +subset: gard_rare {source="GARD:19660"} subset: ordo_morphological_anomaly {source="Orphanet:99119"} synonym: "right inferior caval vein connecting to left-sided atrium" EXACT [Orphanet:99119] synonym: "right IVC connecting to left-sided atrium" EXACT [Orphanet:99119] +xref: GARD:19660 {source="Orphanet:99119"} xref: ICD10CM:Q26.8 {source="Orphanet:99119/ntbt", source="Orphanet:99119"} xref: Orphanet:99119 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferior vena cava @@ -388536,7 +406942,9 @@ is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferi [Term] id: MONDO:0020449 name: persistent eustachian valve +subset: gard_rare {source="GARD:19661"} subset: ordo_morphological_anomaly {source="Orphanet:99120"} +xref: GARD:19661 {source="Orphanet:99120"} xref: ICD10CM:Q26.8 {source="Orphanet:99120", source="Orphanet:99120/ntbt"} xref: Orphanet:99120 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99120"} ! congenital anomaly of the inferior vena cava @@ -388544,9 +406952,11 @@ is_a: MONDO:0019830 {source="Orphanet:99120"} ! congenital anomaly of the inferi [Term] id: MONDO:0020450 name: azygos continuation of the inferior vena cava +subset: gard_rare {source="GARD:19662"} subset: ordo_morphological_anomaly {source="Orphanet:99121"} synonym: "azygos continuation of the inferior caval vein" EXACT [Orphanet:99121] synonym: "azygos continuation of the IVC" EXACT [Orphanet:99121] +xref: GARD:19662 {source="Orphanet:99121"} xref: ICD10CM:Q26.8 {source="Orphanet:99121/ntbt", source="Orphanet:99121"} xref: Orphanet:99121 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99121"} ! congenital anomaly of the inferior vena cava @@ -388554,9 +406964,11 @@ is_a: MONDO:0019830 {source="Orphanet:99121"} ! congenital anomaly of the inferi [Term] id: MONDO:0020451 name: congenital stenosis of the inferior vena cava +subset: gard_rare {source="GARD:19663"} subset: ordo_morphological_anomaly {source="Orphanet:99122"} synonym: "congenital stenosis of the inferior caval vein" EXACT [Orphanet:99122] synonym: "congenital stenosis of the IVC" EXACT [Orphanet:99122] +xref: GARD:19663 {source="Orphanet:99122"} xref: ICD10CM:Q26.0 {source="Orphanet:99122/ntbt", source="Orphanet:99122"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99122 {source="MONDO:equivalentTo"} @@ -388568,9 +406980,11 @@ is_a: MONDO:0019830 {source="Orphanet:99122"} ! congenital anomaly of the inferi [Term] id: MONDO:0020452 name: inferior vena cava interruption +subset: gard_rare {source="GARD:19664"} subset: ordo_morphological_anomaly {source="Orphanet:99123"} synonym: "Inferior caval vein interruption" EXACT [Orphanet:99123] synonym: "IVC interruption" EXACT [Orphanet:99123] +xref: GARD:19664 {source="Orphanet:99123"} xref: ICD10CM:Q26.8 {source="Orphanet:99123/ntbt", source="Orphanet:99123"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99123 {source="MONDO:equivalentTo"} @@ -388581,9 +406995,11 @@ is_a: MONDO:0019830 {source="Orphanet:99123"} ! congenital anomaly of the inferi id: MONDO:0020453 name: congenital partial pulmonary venous return anomaly def: "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." [Orphanet:99124] +subset: gard_rare {source="GARD:19665"} subset: ordo_morphological_anomaly {source="Orphanet:99124"} synonym: "Partial anomalous pulmonary Venous connection" EXACT [NCIT:C99004] synonym: "Partial anomalous pulmonary Venous return" EXACT [NCIT:C99004] +xref: GARD:19665 {source="Orphanet:99124"} xref: ICD10CM:Q26.3 {source="Orphanet:99124/e", source="Orphanet:99124"} xref: NCIT:C99004 {source="MONDO:equivalentTo"} xref: Orphanet:99124 {source="MONDO:equivalentTo"} @@ -388596,7 +407012,9 @@ is_a: MONDO:0017705 {source="Orphanet:99124"} ! congenital pulmonary venous retu id: MONDO:0020454 name: congenital complete agenesis of pericardium def: "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." [Orphanet:99129] +subset: gard_rare {source="GARD:19666"} subset: ordo_morphological_anomaly {source="Orphanet:99129"} +xref: GARD:19666 {source="Orphanet:99129"} xref: ICD10CM:Q24.8 {source="Orphanet:99129/ntbt", source="Orphanet:99129"} xref: Orphanet:99129 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99129"} ! congenital pericardium anomaly @@ -388607,7 +407025,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020455 name: congenital partial agenesis of pericardium def: "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." [Orphanet:99130] +subset: gard_rare {source="GARD:19667"} subset: ordo_morphological_anomaly {source="Orphanet:99130"} +xref: GARD:19667 {source="Orphanet:99130"} xref: ICD10CM:Q24.8 {source="Orphanet:99130/ntbt", source="Orphanet:99130"} xref: Orphanet:99130 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99130"} ! congenital pericardium anomaly @@ -388618,7 +407038,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020456 name: pleuro-pericardial cyst def: "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." [Orphanet:99131] +subset: gard_rare {source="GARD:19668"} subset: ordo_morphological_anomaly {source="Orphanet:99131"} +xref: GARD:19668 {source="Orphanet:99131"} xref: ICD10CM:Q24.8 {source="Orphanet:99131", source="Orphanet:99131/ntbt"} xref: Orphanet:99131 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly @@ -388626,7 +407048,9 @@ is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly [Term] id: MONDO:0020457 name: 6-phosphogluconate dehydrogenase deficiency +subset: gard_rare {source="GARD:16897"} subset: ordo_disease {source="Orphanet:99135"} +xref: GARD:16897 {source="Orphanet:99135"} xref: ICD10CM:D55.1 {source="Orphanet:99135/attributed", source="Orphanet:99135/ntbt", source="Orphanet:99135"} xref: OMIM:619199 {source="MONDO:equivalentTo"} xref: Orphanet:99135 {source="MONDO:equivalentTo"} @@ -388636,9 +407060,11 @@ is_a: MONDO:0003664 {source="Orphanet:99135"} ! hemolytic anemia id: MONDO:0020458 name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138] +subset: gard_rare {source="GARD:19669"} subset: ordo_disease {source="Orphanet:99138"} synonym: "adenosine deaminase, elevated, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730] +xref: GARD:19669 {source="Orphanet:99138"} xref: ICD10CM:D55.3 {source="Orphanet:99138/attributed", source="Orphanet:99138/ntbt", source="Orphanet:99138"} xref: MESH:C566314 {source="MONDO:equivalentTo"} xref: OMIM:102730 {source="MONDO:equivalentObsolete"} @@ -388653,7 +407079,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0004000 ! adenosine deami [Term] id: MONDO:0020459 name: unstable hemoglobin disease +subset: gard_rare {source="GARD:19670"} subset: ordo_disease {source="Orphanet:99139"} +xref: GARD:19670 {source="Orphanet:99139"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99139 {source="MONDO:equivalentTo"} xref: SCTID:18273004 {source="MONDO:equivalentTo"} @@ -388664,7 +407092,7 @@ is_a: MONDO:0019050 {source="Orphanet:99139", source="https://orcid.org/0000-000 id: MONDO:0020460 name: acquired von willebrand syndrome def: "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." [Orphanet:99147] -subset: gard_rare {source="GARD:0005573"} +subset: gard_rare {source="GARD:5573"} subset: ordo_disease {source="Orphanet:99147"} synonym: "acquired von Willebrand disease" EXACT [Orphanet:99147] synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired] @@ -388672,6 +407100,7 @@ synonym: "acquired von Willebrand disease (hereditary or acquired)" EXACT [MONDO synonym: "AVWS" EXACT ABBREVIATION [DOID:0111146] synonym: "Willebrand disease, acquired" RELATED [GARD:0005573] xref: DOID:0111146 {source="MONDO:equivalentTo"} +xref: GARD:5573 {source="Orphanet:99147"} xref: ICD10CM:D68.4 {source="Orphanet:99147", source="Orphanet:99147/ntbt"} xref: MedDRA:10069495 {source="Orphanet:99147", source="Orphanet:99147/e", source="DOID:0111146"} xref: Orphanet:99147 {source="MONDO:equivalentTo", source="DOID:0111146"} @@ -388689,7 +407118,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5573/acquire [Term] id: MONDO:0020461 name: epiblepharon +subset: gard_rare {source="GARD:19671"} subset: ordo_morphological_anomaly {source="Orphanet:99169"} +xref: GARD:19671 {source="Orphanet:99169"} xref: ICD10CM:Q10.3 {source="Orphanet:99169", source="Orphanet:99169/index", source="Orphanet:99169/ntbt"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99169 {source="MONDO:equivalentTo"} @@ -388704,7 +407135,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020462 name: tarsal kink syndrome def: "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." [Orphanet:99170] +subset: gard_rare {source="GARD:19672"} subset: ordo_morphological_anomaly {source="Orphanet:99170"} +xref: GARD:19672 {source="Orphanet:99170"} xref: Orphanet:99170 {source="MONDO:equivalentTo"} xref: UMLS:CN207325 {source="MONDO:equivalentTo"} is_a: MONDO:0020159 {source="Orphanet:99170"} ! congenital entropion @@ -388713,8 +407146,10 @@ is_a: MONDO:0020159 {source="Orphanet:99170"} ! congenital entropion id: MONDO:0020463 name: isolated congenital ectropion def: "A congenital ectropion that is not part of a larger syndrome." [MONDO:patterns/isolated] +subset: gard_rare {source="GARD:19673"} subset: ordo_morphological_anomaly {source="Orphanet:99171"} synonym: "nonsyndromic congenital ectropion" EXACT [MONDO:patterns/isolated] +xref: GARD:19673 {source="Orphanet:99171"} xref: ICD10CM:Q10.1 {source="Orphanet:99171", source="Orphanet:99171/specific", source="Orphanet:99171/e"} xref: Orphanet:99171 {source="MONDO:equivalentTo"} is_a: MONDO:0020161 {source="MONDO:Redundant", source="Orphanet:99171"} ! congenital ectropion @@ -388725,7 +407160,9 @@ intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation id: MONDO:0020464 name: euryblepharon def: "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." [Orphanet:99172] +subset: gard_rare {source="GARD:19674"} subset: ordo_morphological_anomaly {source="Orphanet:99172"} +xref: GARD:19674 {source="Orphanet:99172"} xref: ICD10CM:Q10.1 {source="Orphanet:99172", source="Orphanet:99172/attributed", source="Orphanet:99172/ntbt"} xref: Orphanet:99172 {source="MONDO:equivalentTo"} xref: SCTID:400954002 {source="MONDO:equivalentTo"} @@ -388736,7 +407173,9 @@ is_a: MONDO:0020161 {source="Orphanet:99172"} ! congenital ectropion id: MONDO:0020465 name: congenital eyelid retraction def: "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." [Orphanet:99176] +subset: gard_rare {source="GARD:19675"} subset: ordo_morphological_anomaly {source="Orphanet:99176"} +xref: GARD:19675 {source="Orphanet:99176"} xref: ICD10CM:Q10.3 {source="Orphanet:99176/attributed", source="Orphanet:99176/ntbt", source="Orphanet:99176"} xref: Orphanet:99176 {source="MONDO:equivalentTo"} xref: SCTID:715769008 {source="MONDO:equivalentTo"} @@ -388745,8 +407184,10 @@ is_a: MONDO:0003382 {source="Orphanet:99176"} ! eyelid disorder [Term] id: MONDO:0020466 name: monosomy X +subset: gard_rare {source="GARD:19676"} subset: ordo_etiological_subtype {source="Orphanet:99226"} synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226] +xref: GARD:19676 {source="Orphanet:99226"} xref: ICD10CM:Q96.9 {source="Orphanet:99226/ntbt", source="Orphanet:99226", source="Orphanet:99226/index"} xref: NCIT:C36630 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"} xref: Orphanet:99226 {source="MONDO:equivalentTo"} @@ -388763,10 +407204,12 @@ intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Hum id: MONDO:0020467 name: mosaic monosomy X comment: Editor note: add qualifier for mosaicism +subset: gard_rare {source="GARD:19677"} subset: ordo_etiological_subtype {source="Orphanet:99228"} synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228] synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084] synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084] +xref: GARD:19677 {source="Orphanet:99228"} xref: ICD10CM:Q96.3 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"} xref: ICD10CM:Q96.4 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"} xref: Orphanet:99228 {source="MONDO:equivalentTo"} @@ -388785,9 +407228,11 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0020468 name: paternal uniparental disomy of chromosome 13 def: "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:99324] +subset: gard_rare {source="GARD:19678"} subset: ordo_malformation_syndrome {source="Orphanet:99324"} synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324] synonym: "UPD(13)pat" EXACT [Orphanet:99324] +xref: GARD:19678 {source="Orphanet:99324"} xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="Orphanet:99324/attributed", source="Orphanet:99324/ntbt"} xref: Orphanet:99324 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -388797,8 +407242,10 @@ relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orci id: MONDO:0020469 name: 48,XYYY syndrome def: "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." [Orphanet:99329] +subset: gard_rare {source="GARD:11985"} subset: ordo_malformation_syndrome {source="Orphanet:99329"} synonym: "48,XYYY" RELATED [GARD:0011985] +xref: GARD:11985 {source="Orphanet:99329"} xref: ICD10CM:Q98.8 {source="Orphanet:99329", source="Orphanet:99329/attributed", source="Orphanet:99329/ntbt"} xref: Orphanet:99329 {source="MONDO:equivalentTo"} xref: SCTID:733625003 {source="MONDO:equivalentTo"} @@ -388815,7 +407262,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020470 name: 49,XYYYY syndrome def: "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." [Orphanet:99330] +subset: gard_rare {source="GARD:19679"} subset: ordo_malformation_syndrome {source="Orphanet:99330"} +xref: GARD:19679 {source="Orphanet:99330"} xref: ICD10CM:Q98.8 {source="Orphanet:99330/attributed", source="Orphanet:99330/ntbt", source="Orphanet:99330"} xref: Orphanet:99330 {source="MONDO:equivalentTo"} xref: SCTID:734028007 {source="MONDO:equivalentTo"} @@ -388836,7 +407285,9 @@ replaced_by: MONDO:0006373 [Term] id: MONDO:0020472 name: Turner syndrome due to structural X chromosome anomalies +subset: gard_rare {source="GARD:19681"} subset: ordo_etiological_subtype {source="Orphanet:99413"} +xref: GARD:19681 {source="Orphanet:99413"} xref: ICD10CM:Q96.1 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"} xref: ICD10CM:Q96.2 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"} xref: Orphanet:99413 {source="MONDO:equivalentTo"} @@ -388858,9 +407309,11 @@ is_a: MONDO:0019701 {source="Orphanet:99645"} ! chondrodysplasia punctata id: MONDO:0020474 name: cheirospondyloenchondromatosis def: "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." [Orphanet:99647] +subset: gard_rare {source="GARD:19682"} subset: ordo_disease {source="Orphanet:99647"} synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 [] synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647] +xref: GARD:19682 {source="Orphanet:99647"} xref: Orphanet:99647 {source="MONDO:equivalentTo"} xref: SCTID:725104005 {source="MONDO:equivalentTo"} xref: UMLS:C4510810 {source="MONDO:equivalentTo"} @@ -388871,7 +407324,9 @@ relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:99647"} ! obso id: MONDO:0020475 name: dermotrichic syndrome comment: Editor note: See PMID:1456297 +subset: gard_rare {source="GARD:19683"} subset: ordo_malformation_syndrome {source="Orphanet:99688"} +xref: GARD:19683 {source="Orphanet:99688"} xref: Orphanet:99688 {source="MONDO:equivalentTo"} xref: UMLS:CN207344 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:99688"} ! ectodermal dysplasia syndrome @@ -388880,8 +407335,10 @@ is_a: MONDO:0019287 {source="Orphanet:99688"} ! ectodermal dysplasia syndrome id: MONDO:0020476 name: mesial temporal lobe epilepsy with hippocampal sclerosis def: "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." [Orphanet:99701] +subset: gard_rare {source="GARD:19684"} subset: ordo_disease {source="Orphanet:99701"} synonym: "MTLE-HS" EXACT [Orphanet:99701] +xref: GARD:19684 {source="Orphanet:99701"} xref: Orphanet:99701 {source="MONDO:equivalentTo"} is_a: MONDO:0017704 {source="Orphanet:99701"} ! familial partial epilepsy @@ -388897,9 +407354,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare id: MONDO:0020478 name: Leber plus disease def: "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." [Orphanet:99718] +subset: gard_rare {source="GARD:8476"} subset: ordo_disease {source="Orphanet:99718"} synonym: "LHON plus disease" EXACT [Orphanet:99718] xref: DOID:0111754 {source="MONDO:equivalentTo"} +xref: GARD:8476 {source="Orphanet:99718"} xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:99718/attributed", source="Orphanet:99718/ntbt", source="Orphanet:99718"} xref: Orphanet:99718 {source="MONDO:equivalentTo"} xref: SCTID:719430008 {source="MONDO:equivalentTo"} @@ -388915,10 +407374,12 @@ relationship: has_characteristic SO:1000008 ! point_mutation id: MONDO:0020479 name: pituitary gigantism def: "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." [MESH:D005877] +subset: gard_rare {source="GARD:6506"} subset: ordo_disease {source="Orphanet:99725"} synonym: "gigantism" RELATED [GARD:0006506] synonym: "hypophyseal gigantism" EXACT [Orphanet:99725] synonym: "infantile and juvenile forms of acromegaly" EXACT [Orphanet:99725] +xref: GARD:6506 {source="Orphanet:99725"} xref: ICD10CM:E22.0 {source="Orphanet:99725", source="Orphanet:99725/e"} xref: MedDRA:10018265 {source="Orphanet:99725", source="Orphanet:99725/e"} xref: MESH:D005877 {source="MONDO:equivalentTo", source="Orphanet:99725", source="Orphanet:99725/e"} @@ -388933,12 +407394,14 @@ is_a: MONDO:0019927 {source="Orphanet:99725"} ! growth hormone-producing pituita id: MONDO:0020480 name: sulfite oxidase deficiency due to molybdenum cofactor deficiency comment: Editor note: DO class is more general +subset: gard_rare {source="GARD:3705"} subset: ordo_clinical_subtype {source="Orphanet:99732"} synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, Orphanet:99732] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" RELATED [GARD:0003705] synonym: "MOCOD" EXACT ABBREVIATION [DOID:0111165, Orphanet:99732] synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150] xref: DOID:0111165 {source="MONDO:equivalentTo"} +xref: GARD:3705 {source="Orphanet:99732"} xref: ICD10CM:E72.1 {source="Orphanet:99732/attributed", source="Orphanet:99732/ntbt", source="Orphanet:99732", source="DOID:0111165"} xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"} xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"} @@ -388951,10 +407414,12 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252150"} ! inheri id: MONDO:0020481 name: myotonia fluctuans def: "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." [Orphanet:99734] +subset: gard_rare {source="GARD:16904"} subset: ordo_disease {source="Orphanet:99734"} synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734] synonym: "Fluctuating myotonia" EXACT [Orphanet:99734] synonym: "MF" EXACT ABBREVIATION [NCIT:C122789] +xref: GARD:16904 {source="Orphanet:99734"} xref: ICD10CM:G71.1 {source="Orphanet:99734/attributed", source="Orphanet:99734/ntbt", source="Orphanet:99734"} xref: NCIT:C122789 {source="MONDO:equivalentTo"} xref: Orphanet:99734 {source="MONDO:equivalentTo"} @@ -388967,7 +407432,9 @@ property_value: confidence "0.47058823529411753" xsd:double id: MONDO:0020482 name: myotonia permanens def: "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." [Orphanet:99735] +subset: gard_rare {source="GARD:16905"} subset: ordo_disease {source="Orphanet:99735"} +xref: GARD:16905 {source="Orphanet:99735"} xref: ICD10CM:G71.1 {source="Orphanet:99735/attributed", source="Orphanet:99735/ntbt", source="Orphanet:99735"} xref: Orphanet:99735 {source="MONDO:equivalentTo"} xref: SCTID:715789009 {source="MONDO:equivalentTo"} @@ -388979,6 +407446,7 @@ property_value: confidence "0.47058823529411753" xsd:double id: MONDO:0020483 name: acetazolamide-responsive myotonia def: "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." [Orphanet:99736] +subset: gard_rare {source="GARD:16906"} subset: ordo_disease {source="Orphanet:99736"} synonym: "Acetazolamide-responsive congenital myotonia" EXACT [Orphanet:99736] synonym: "ACZ-responsive congenital myotonia" EXACT [Orphanet:99736] @@ -388986,6 +407454,7 @@ synonym: "ACZ-responsive myotonia" EXACT [Orphanet:99736] synonym: "myotonia-painful contractions syndrome" EXACT [Orphanet:99736] synonym: "painful congenital myotonia" EXACT [Orphanet:99736] synonym: "painful myotonia" EXACT [Orphanet:99736] +xref: GARD:16906 {source="Orphanet:99736"} xref: ICD10CM:G71.1 {source="Orphanet:99736", source="Orphanet:99736/attributed", source="Orphanet:99736/ntbt"} xref: Orphanet:99736 {source="MONDO:equivalentTo"} xref: SCTID:715793003 {source="MONDO:equivalentTo"} @@ -388998,9 +407467,11 @@ property_value: confidence "0.47058823529411753" xsd:double id: MONDO:0020484 name: obsolete rare familial disorder with hypertrophic cardiomyopathy subset: disease_grouping +subset: gard_rare {source="GARD:19686"} subset: ordo_group_of_disorders {source="Orphanet:99739"} synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739] synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739] +xref: GARD:19686 {source="MONDO:obsoleteEquivalent", source="Orphanet:99739"} xref: Orphanet:99739 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0949658 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99739", source="Orphanet:99739/e"} property_value: IAO:0000231 OMO:0001000 @@ -389013,13 +407484,14 @@ consider: MESH:D024741 {source="Orphanet:99739", source="Orphanet:99739/e"} id: MONDO:0020485 name: King-Denborough syndrome def: "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." [Orphanet:99741] -subset: gard_rare +subset: gard_rare {source="GARD:8433"} subset: ordo_malformation_syndrome {source="Orphanet:99741"} synonym: "anesthetic-induced malignant hyperpyrexia in children" RELATED [GARD:0008433] synonym: "King Denborough syndrome" RELATED [GARD:0008433] synonym: "Koussef-Nichols syndrome" EXACT [Orphanet:99741] synonym: "Kousseff Nichols syndrome" RELATED [GARD:0008561] synonym: "Noonan like contracture myopathy hyperpyrexia" RELATED [GARD:0008561, MESH:C537504] +xref: GARD:8433 {source="Orphanet:99741"} xref: ICD10CM:G71.2 {source="Orphanet:99741", source="Orphanet:99741/attributed", source="Orphanet:99741/ntbt"} xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="Orphanet:99741/e"} xref: MESH:C537504 {source="MONDO:equivalentTo"} @@ -389039,8 +407511,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8561/koussef id: MONDO:0020487 name: Pontiac fever def: "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." [Orphanet:99748] +subset: gard_rare {source="GARD:13588"} subset: ordo_clinical_subtype {source="Orphanet:99748"} xref: DOID:0050150 {source="MONDO:equivalentTo"} +xref: GARD:13588 {source="Orphanet:99748"} xref: ICD10CM:A48.2 {source="Orphanet:99748", source="Orphanet:99748/e"} xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10054161 {source="Orphanet:99748", source="Orphanet:99748/e"} @@ -389055,8 +407529,10 @@ is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748"} ! legionell id: MONDO:0020488 name: atypical progressive supranuclear palsy syndrome def: "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." [Orphanet:99750] +subset: gard_rare {source="GARD:4507"} subset: ordo_clinical_subtype {source="Orphanet:99750"} synonym: "atypical PSP syndrome" EXACT [Orphanet:99750] +xref: GARD:4507 {source="Orphanet:99750"} xref: ICD10CM:G23.1 {source="Orphanet:99750/attributed", source="Orphanet:99750/ntbt", source="Orphanet:99750"} xref: MESH:C537240 {source="Orphanet:99750/e", source="Orphanet:99750"} xref: Orphanet:99750 {source="MONDO:equivalentTo"} @@ -389085,11 +407561,12 @@ is_a: MONDO:0018541 {source="Orphanet:99763"} ! familial hypoaldosteronism id: MONDO:0020490 name: mosaic trisomy 9 def: "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9] -subset: gard_rare {source="GARD:0000043"} +subset: gard_rare {source="GARD:43"} subset: ordo_malformation_syndrome {source="Orphanet:99776"} synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043] synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776] synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043] +xref: GARD:43 {source="Orphanet:99776"} xref: ICD10CM:Q92.1 {source="Orphanet:99776/attributed", source="Orphanet:99776/ntbt", source="Orphanet:99776"} xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="Orphanet:99776/e"} xref: Orphanet:99776 {source="MONDO:equivalentTo"} @@ -389107,7 +407584,7 @@ id: MONDO:0020491 name: subcortical band heterotopia def: "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." [NCIT:C116933] comment: Editor note: check this hierarchy -subset: gard_rare +subset: gard_rare {source="GARD:1904"} subset: ordo_morphological_anomaly {source="Orphanet:99796"} synonym: "band heterotopia" EXACT [DOID:0111169] synonym: "Double cortex" RELATED [GARD:0001904] @@ -389117,6 +407594,7 @@ synonym: "HeCo" EXACT [DOID:0111169] synonym: "heterotopic cortex" EXACT [DOID:0111169] synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796] xref: DOID:0111169 {source="MONDO:equivalentTo"} +xref: GARD:1904 {source="Orphanet:99796"} xref: ICD10CM:Q04.3 {source="Orphanet:99796", source="Orphanet:99796/attributed", source="Orphanet:99796/ntbt"} xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"} xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"} @@ -389131,10 +407609,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2250/familia id: MONDO:0020492 name: hemimegalencephaly def: "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." [Orphanet:99802] -subset: gard_rare {source="GARD:0002637"} +subset: gard_rare {source="GARD:2637"} subset: ordo_malformation_syndrome {source="Orphanet:99802"} synonym: "macrencephaly" RELATED [GARD:0002637] synonym: "unilateral megalencephaly" EXACT [Orphanet:99802] +xref: GARD:2637 {source="Orphanet:99802"} xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="Orphanet:99802/attributed", source="Orphanet:99802/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065705 {source="MONDO:equivalentTo"} @@ -389149,11 +407628,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2637/hemimeg id: MONDO:0020493 name: Haddad syndrome def: "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." [Orphanet:99803] +subset: gard_rare {source="GARD:16909"} subset: ordo_malformation_syndrome {source="Orphanet:99803"} synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndrome" EXACT [Orphanet:99803] synonym: "Haddad syndrome" EXACT CLINGEN_PREFERRED [] synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803] synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803] +xref: GARD:16909 {source="Orphanet:99803"} xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="Orphanet:99803", source="Orphanet:99803/attributed", source="Orphanet:99803/ntbt"} xref: MESH:C536209 {source="Orphanet:99803", source="Orphanet:99803/e"} xref: Orphanet:99803 {source="MONDO:equivalentTo"} @@ -389168,8 +407649,10 @@ property_value: confidence "14.799999999999999" xsd:double id: MONDO:0020494 name: oculootodental syndrome def: "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." [Orphanet:99806] +subset: gard_rare {source="GARD:16910"} subset: ordo_malformation_syndrome {source="Orphanet:99806"} synonym: "OOD" EXACT ABBREVIATION [Orphanet:99806] +xref: GARD:16910 {source="Orphanet:99806"} xref: ICD10CM:K00.2 {source="Orphanet:99806/attributed", source="Orphanet:99806/ntbt", source="Orphanet:99806"} xref: Orphanet:99806 {source="MONDO:equivalentTo"} xref: UMLS:C2750325 {source="MONDO:equivalentTo", source="Orphanet:99806"} @@ -389180,11 +407663,13 @@ property_value: confidence "6.312500000000001" xsd:double id: MONDO:0020495 name: PEHO-like syndrome def: "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." [Orphanet:99807] +subset: gard_rare {source="GARD:16911"} subset: ordo_disease {source="Orphanet:99807"} synonym: "PEHO syndrome-like" EXACT [OMIM:617507, OMIM:genemap2] synonym: "peho-like syndrome" EXACT [OMIM:617507] synonym: "PEHOL" RELATED ABBREVIATION [OMIM:617507] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" EXACT [OMIM:617507] +xref: GARD:16911 {source="Orphanet:99807"} xref: OMIM:617507 {source="MONDO:equivalentTo"} xref: Orphanet:99807 {source="MONDO:equivalentTo", source="OMIM:617507"} xref: UMLS:C1850056 {source="OMIM:617507", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99807"} @@ -389199,11 +407684,12 @@ id: MONDO:0020496 name: familial porencephaly def: "An instance of porencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) -subset: gard_rare {source="GARD:0002258"} +subset: gard_rare {source="GARD:2258"} subset: ordo_etiological_subtype {source="Orphanet:99810"} synonym: "familial porencephalic white matter disease" RELATED [GARD:0002258] synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary] xref: DOID:0112313 {source="MONDO:equivalentTo"} +xref: GARD:2258 {source="Orphanet:99810"} xref: ICD10CM:Q04.6 {source="Orphanet:99810/inclusion", source="Orphanet:99810", source="Orphanet:99810/ntbt"} xref: MESH:C536850 {source="Orphanet:99810", source="Orphanet:99810/e"} xref: OMIMPS:175780 {source="MONDO:equivalentTo"} @@ -389221,7 +407707,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2258/familia id: MONDO:0020497 name: Turcot syndrome with polyposis def: "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." [Orphanet:99818] +subset: gard_rare {source="GARD:16912"} subset: ordo_clinical_subtype {source="Orphanet:99818"} +xref: GARD:16912 {source="Orphanet:99818"} xref: ICD10CM:D12.6 {source="Orphanet:99818", source="Orphanet:99818/attributed", source="Orphanet:99818/ntbt"} xref: Orphanet:99818 {source="MONDO:equivalentTo"} xref: UMLS:CN207386 {source="MONDO:equivalentTo"} @@ -389238,11 +407726,13 @@ replaced_by: MONDO:0005820 id: MONDO:0020499 name: Nipah virus disease def: "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." [Orphanet:99825] +subset: gard_rare {source="GARD:19689"} subset: ordo_disease {source="Orphanet:99825"} synonym: "Nipah encephalitis" EXACT [Orphanet:99825] synonym: "Nipah fever" EXACT [Orphanet:99825] synonym: "Nipah virus infectious disease" EXACT [] xref: DOID:0050192 {source="MONDO:equivalentTo"} +xref: GARD:19689 {source="Orphanet:99825"} xref: ICD10CM:A98.8 {source="Orphanet:99825", source="Orphanet:99825/ntbt"} xref: Orphanet:99825 {source="MONDO:equivalentTo"} xref: UMLS:CN207389 {source="MONDO:equivalentTo"} @@ -389257,7 +407747,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020500 name: Marburg hemorrhagic fever def: "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." [Orphanet:99826] -subset: gard_rare {source="GARD:0009444"} +subset: gard_rare {source="GARD:9444"} subset: ordo_disease {source="Orphanet:99826"} synonym: "Green monkey disease" EXACT [Orphanet:99826] synonym: "Marburg disease" EXACT [DOID:4327] @@ -389265,6 +407755,7 @@ synonym: "Marburg virus disease" EXACT [DOID:4327, Orphanet:99826] synonym: "MHF" EXACT ABBREVIATION [Orphanet:99826] xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"} xref: EFO:0007358 {source="MONDO:equivalentTo"} +xref: GARD:9444 {source="Orphanet:99826"} xref: ICD10CM:A98.3 {source="DOID:4327", source="Orphanet:99826", source="Orphanet:99826/e"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10026822 {source="Orphanet:99826", source="Orphanet:99826/e"} @@ -389284,6 +407775,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9444/marburg id: MONDO:0020501 name: Crimean-Congo hemorrhagic fever def: "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." [Orphanet:99827] +subset: gard_rare {source="GARD:19690"} subset: ordo_disease {source="Orphanet:99827"} synonym: "CCHF" EXACT ABBREVIATION [Orphanet:99827] synonym: "CHF Congo virus" EXACT [DOID:12287] @@ -389294,6 +407786,7 @@ synonym: "Crimean hemorrhagic fever" EXACT [Orphanet:99827] synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [DOID:12287, ICD9CM:065.0] synonym: "Crimean-Congo haemorrhagic fever" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases] xref: DOID:12287 {source="MONDO:equivalentTo"} +xref: GARD:19690 {source="Orphanet:99827"} xref: ICD10CM:A98.0 {source="MONDO:equivalentTo", source="Orphanet:99827", source="DOID:12287", source="Orphanet:99827/e"} xref: ICD9:065.0 {source="DOID:12287"} xref: MESH:D006479 {source="MONDO:equivalentTo", source="DOID:12287"} @@ -389318,7 +407811,7 @@ relationship: transmitted_by NCBITaxon:34625 ! Hyalomma id: MONDO:0020502 name: yellow fever def: "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." [Orphanet:99829] -subset: gard_rare {source="GARD:0007914"} +subset: gard_rare {source="GARD:7914"} subset: ordo_disease {source="Orphanet:99829"} synonym: "bronze John" EXACT [Orphanet:99829] synonym: "jungle yellow fever" EXACT [DOID:9682] @@ -389332,6 +407825,7 @@ synonym: "Yellow fever, sylvan" EXACT [DOID:9682] synonym: "Yellow Jack" EXACT [Orphanet:99829] synonym: "YF" EXACT ABBREVIATION [Orphanet:99829] xref: DOID:9682 {source="MONDO:equivalentTo"} +xref: GARD:7914 {source="Orphanet:99829"} xref: ICD10CM:A95 {source="DOID:9682"} xref: ICD10CM:A95.0 {source="Orphanet:99829", source="Orphanet:99829/btnt"} xref: ICD10CM:A95.1 {source="Orphanet:99829", source="Orphanet:99829/btnt"} @@ -389374,8 +407868,10 @@ replaced_by: MONDO:0032819 id: MONDO:0020504 name: hereditary recurrent myoglobinuria def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." [https://orcid.org/0000-0001-5208-3432, Orphanet:99845] +subset: gard_rare {source="GARD:16916"} subset: ordo_disease {source="Orphanet:99845"} synonym: "genetic recurrent myoglobinuria" EXACT [Orphanet:99845] +xref: GARD:16916 {source="Orphanet:99845"} xref: ICD10CM:R82.1 {source="Orphanet:99845/attributed", source="Orphanet:99845/ntbt", source="MONDO:relatedTo", source="Orphanet:99845"} xref: Orphanet:99845 {source="MONDO:equivalentTo"} xref: SCTID:716721003 {source="MONDO:equivalentTo"} @@ -389387,9 +407883,11 @@ relationship: excluded_subClassOf MONDO:0018120 {source="Orphanet:99845"} ! obso id: MONDO:0020505 name: ravine syndrome def: "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." [Orphanet:99852] +subset: gard_rare {source="GARD:3231"} subset: ordo_disease {source="Orphanet:99852"} synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orphanet:99852] synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852] +xref: GARD:3231 {source="Orphanet:99852"} xref: ICD10CM:E75.2 {source="Orphanet:99852", source="Orphanet:99852/attributed", source="Orphanet:99852/ntbt"} xref: Orphanet:99852 {source="MONDO:equivalentTo"} xref: SCTID:715794009 {source="MONDO:equivalentTo"} @@ -389400,6 +407898,8 @@ is_a: MONDO:0019046 {source="Orphanet:99852"} ! leukodystrophy [Term] id: MONDO:0020506 name: obsolete ovarioleukodystrophy +subset: gard_rare {source="GARD:16918"} +xref: GARD:16918 {source="Orphanet:99853", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E75.2 {source="Orphanet:99853/attributed", source="Orphanet:99853/ntbt", source="Orphanet:99853"} xref: Orphanet:99853 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1847967 {source="Orphanet:99853", source="MONDO:obsoleteEquivalent"} @@ -389414,12 +407914,14 @@ is_obsolete: true id: MONDO:0020507 name: leukoencephalopathy with vanishing white matter 1 def: "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16919"} subset: ordo_clinical_subtype {source="Orphanet:99854"} synonym: "CACH" EXACT ABBREVIATION [OMIM:603896] synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [OMIM:603896] synonym: "Cree leukoencephalopathy" RELATED [Orphanet:99854] synonym: "vanishing white matter leukodystrophy" EXACT [OMIM:603896] xref: DOID:0070374 {xref="MONDO:equivalentTo"} +xref: GARD:16919 {source="Orphanet:99854"} xref: ICD10CM:E75.2 {source="Orphanet:99854", source="Orphanet:99854/attributed", source="Orphanet:99854/ntbt"} xref: OMIM:603896 {source="MONDO:equivalentTo"} xref: Orphanet:99854 {source="MONDO:equivalentTo"} @@ -389432,8 +407934,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020508 name: primary syringomyelia +subset: gard_rare {source="GARD:19691"} subset: ordo_morphological_anomaly {source="Orphanet:99856"} synonym: "congenital syringomyelia" EXACT [Orphanet:99856] +xref: GARD:19691 {source="Orphanet:99856"} xref: ICD10CM:Q06.4 {source="Orphanet:99856/attributed", source="Orphanet:99856/ntbt", source="Orphanet:99856"} xref: Orphanet:99856 {source="MONDO:equivalentTo"} xref: SCTID:371076006 {source="MONDO:equivalentTo"} @@ -389447,7 +407951,9 @@ relationship: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856"} ! obso id: MONDO:0020509 name: secondary syringomyelia def: "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." [Orphanet:99857] +subset: gard_rare {source="GARD:19692"} subset: ordo_disease {source="Orphanet:99857"} +xref: GARD:19692 {source="Orphanet:99857"} xref: ICD10CM:G95.0 {source="Orphanet:99857", source="Orphanet:99857/ntbt"} xref: Orphanet:99857 {source="MONDO:equivalentTo"} is_a: MONDO:0017987 {source="Orphanet:99857"} ! syringomyelia @@ -389456,8 +407962,10 @@ is_a: MONDO:0017987 {source="Orphanet:99857"} ! syringomyelia id: MONDO:0020510 name: idiopathic syringomyelia def: "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." [Orphanet:99858] +subset: gard_rare {source="GARD:19693"} subset: mondo_rare {source="https://orcid.org/0000-0002-6195-6976"} subset: ordo_clinical_subtype {source="Orphanet:99858"} +xref: GARD:19693 {source="Orphanet:99858"} xref: ICD10CM:G95.0 {source="Orphanet:99858", source="Orphanet:99858/attributed", source="Orphanet:99858/ntbt"} xref: Orphanet:99858 {source="MONDO:equivalentTo"} xref: SCTID:725001004 {source="MONDO:equivalentTo"} @@ -389471,6 +407979,7 @@ relationship: has_characteristic MONDO:0021136 {source="https://orcid.org/0000-0 id: MONDO:0020511 name: precursor B-cell acute lymphoblastic leukemia def: "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" [NCIT:C8644] +subset: gard_rare {source="GARD:16920"} subset: ordo_disease {source="Orphanet:99860"} synonym: "acute B cell lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute B cell lymphocytic leukemia" BROAD [NCIT:C8644] @@ -389503,6 +408012,7 @@ synonym: "precursor B-lymphoblastic leukaemia (B-precursor ALL)" EXACT OMO:00030 synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644] synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644] xref: DOID:0080638 {source="MONDO:equivalentTo"} +xref: GARD:16920 {source="Orphanet:99860"} xref: ICD10CM:C83.5 {source="Orphanet:99860/ntbt", source="Orphanet:99860"} xref: ICD10CM:C91.0 {source="Orphanet:99860/ntbt", source="Orphanet:99860"} xref: ICDO:9836/3 {source="NCIT:C8644"} @@ -389517,12 +408027,14 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0020512 name: precursor T-cell acute lymphoblastic leukemia +subset: gard_rare {source="GARD:19694"} subset: ordo_disease {source="Orphanet:99861"} synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "T-ALL" BROAD [Orphanet:99861] +xref: GARD:19694 {source="Orphanet:99861"} xref: ICD10CM:C91.0 {source="Orphanet:99861/ntbt", source="Orphanet:99861"} xref: Orphanet:99861 {source="MONDO:equivalentTo"} xref: UMLS:C1961099 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99861"} @@ -389533,12 +408045,14 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0020513 name: spermatocytic seminoma def: "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." [NCIT:C39921] +subset: gard_rare {source="GARD:16921"} subset: ordo_disease {source="Orphanet:99865"} synonym: "spermatocytic seminoma" EXACT [NCIT:C39921] synonym: "spermatocytoma" RELATED [DOID:5834] synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921] xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: GARD:16921 {source="Orphanet:99865"} xref: ICD10CM:C62.9 {source="Orphanet:99865", source="Orphanet:99865/ntbt"} xref: ICDO:9063/3 {source="NCIT:C39921"} xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo"} @@ -389564,10 +408078,12 @@ replaced_by: MONDO:0006451 id: MONDO:0020516 name: thymic neuroendocrine carcinoma def: "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." [Orphanet:99869] +subset: gard_rare {source="GARD:19696"} subset: ordo_disease {source="Orphanet:99869"} synonym: "neuroendocrine carcinoma of thymus" EXACT [] synonym: "thymic neuroendocrine carcinoma" EXACT [] synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] +xref: GARD:19696 {source="Orphanet:99869"} xref: ICD10CM:C37 {source="Orphanet:99869", source="Orphanet:99869/ntbt"} xref: NCIT:C171031 {source="MONDO:equivalentTo"} xref: Orphanet:99869 {source="MONDO:equivalentTo"} @@ -389607,7 +408123,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020518 name: Hashimoto-Pritzker syndrome def: "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." [Orphanet:99872] -subset: gard_rare {source="GARD:0002604"} subset: ordo_disease {source="Orphanet:99872"} synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872] synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604] @@ -389751,8 +408266,10 @@ property_value: IAO:0000589 "transient neonatal diabetes mellitus (disease)" xsd [Term] id: MONDO:0020526 name: acute megakaryoblastic leukemia in down syndrome +subset: gard_rare {source="GARD:19697"} subset: ordo_clinical_subtype {source="Orphanet:99887"} synonym: "DS-AMKL" EXACT [Orphanet:99887] +xref: GARD:19697 {source="Orphanet:99887"} xref: ICD10CM:C94.2 {source="Orphanet:99887", source="Orphanet:99887/ntbt"} xref: Orphanet:99887 {source="MONDO:equivalentTo"} xref: UMLS:CN207426 {source="MONDO:equivalentTo"} @@ -389763,6 +408280,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0020527 name: ectopic Cushing syndrome def: "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." [Orphanet:99889] +subset: gard_rare {source="GARD:19698"} subset: ordo_disease {source="Orphanet:99889"} synonym: "adrenocorticotropic hormone secretion syndrome" EXACT [Orphanet:99889] synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890] @@ -389772,6 +408290,7 @@ synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889] synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889] synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889] xref: DOID:0060890 {source="MONDO:equivalentTo"} +xref: GARD:19698 {source="Orphanet:99889"} xref: ICD10CM:E24.3 {source="DOID:0060890", source="Orphanet:99889/ntbt", source="Orphanet:99889"} xref: Orphanet:99889 {source="DOID:0060890", source="MONDO:equivalentTo"} xref: UMLS:CN207427 {source="MONDO:equivalentTo"} @@ -389782,6 +408301,7 @@ id: MONDO:0020528 name: ACTH-dependent Cushing syndrome def: "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." [Orphanet:99892] subset: disease_grouping +subset: gard_rare {source="GARD:19699"} subset: ordo_group_of_disorders {source="Orphanet:99892"} synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748] synonym: "ACTH-dependent CS" EXACT [Orphanet:99892] @@ -389796,6 +408316,7 @@ synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} xref: EFO:1001110 {source="MONDO:equivalentTo"} +xref: GARD:19699 {source="Orphanet:99892"} xref: ICD10CM:E24.0 {source="EFO:1001110", source="MONDO:equivalentTo", source="Orphanet:99892/ntbt", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"} xref: MedDRA:10035109 {source="EFO:1001110"} xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"} @@ -389820,10 +408341,12 @@ id: MONDO:0020529 name: ACTH-independent Cushing syndrome def: "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." [Orphanet:99893] subset: disease_grouping +subset: gard_rare {source="GARD:19700"} subset: ordo_group_of_disorders {source="Orphanet:99893"} synonym: "adrenal Cushing syndrome" EXACT [Orphanet:99893] synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orphanet:99893] synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893] +xref: GARD:19700 {source="Orphanet:99893"} xref: ICD10CM:E24.8 {source="Orphanet:99893/ntbt", source="Orphanet:99893"} xref: Orphanet:99893 {source="MONDO:equivalentTo"} xref: UMLS:CN207429 {source="MONDO:equivalentTo"} @@ -389835,6 +408358,7 @@ relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99893"} ! obso id: MONDO:0020530 name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:99898] +subset: gard_rare {source="GARD:9185"} subset: ordo_disease {source="Orphanet:99898"} subset: predisposition synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1" EXACT [] @@ -389844,6 +408368,7 @@ synonym: "interferon gamma, receptor 1, deficiency" RELATED [GARD:0003011] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898] synonym: "MSMD due to complete IFNgammaR1 deficiency" EXACT [Orphanet:99898] synonym: "MSMD due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898] +xref: GARD:9185 {source="Orphanet:99898"} xref: ICD10CM:D84.8 {source="Orphanet:99898", source="Orphanet:99898/attributed", source="Orphanet:99898/ntbt"} xref: MESH:C535530 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"} xref: Orphanet:99898 {source="MONDO:equivalentTo"} @@ -389881,12 +408406,14 @@ intersection_of: disease_has_basis_in_disruption_of GO:0004466 ! long-chain-acyl id: MONDO:0020532 name: spirillary rat-bite fever def: "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." [Orphanet:99903] +subset: gard_rare {source="GARD:19701"} subset: ordo_etiological_subtype {source="Orphanet:99903"} synonym: "sodoku" EXACT [https://www.britannica.com/science/rat-bite-fever, Orphanet:99903] synonym: "sodoku disease" EXACT [MONDO:0001432] synonym: "Spirillary fever" EXACT [DOID:12096, ICD9CM:026.0] synonym: "spirillosis" RELATED [DOID:12096] xref: DOID:12096 {source="MONDO:equivalentTo"} +xref: GARD:19701 {source="Orphanet:99903"} xref: ICD10CM:A25.0 {source="DOID:12096", source="Orphanet:99903", source="Orphanet:99903/e"} xref: ICD9:026.0 {source="DOID:12096", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011906 {source="DOID:12096"} @@ -389903,12 +408430,14 @@ relationship: transmitted_by NCBITaxon:10114 ! Rattus id: MONDO:0020533 name: streptobacillary rat-bite fever def: "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." [Orphanet:99905] +subset: gard_rare {source="GARD:19702"} subset: ordo_etiological_subtype {source="Orphanet:99905"} synonym: "Haverhill fever" EXACT [DOID:13238] synonym: "Streptobacillary fever" EXACT [DOID:13238, ICD9CM:026.1] synonym: "streptobacillary rat-bite fever" EXACT [DOID:13238] synonym: "Streptobacillosis" RELATED [DOID:13238] xref: DOID:13238 {source="MONDO:equivalentTo"} +xref: GARD:19702 {source="Orphanet:99905"} xref: ICD10CM:A25.1 {source="DOID:13238", source="Orphanet:99905/e", source="Orphanet:99905"} xref: ICD9:026.1 {source="DOID:13238", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:99905 {source="MONDO:equivalentTo"} @@ -389931,7 +408460,9 @@ replaced_by: MONDO:0001971 id: MONDO:0020535 name: house allergic alveolitis def: "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." [Orphanet:99907] +subset: gard_rare {source="GARD:19703"} subset: ordo_disease {source="Orphanet:99907"} +xref: GARD:19703 {source="Orphanet:99907"} xref: ICD10CM:J67.8 {source="Orphanet:99907/ntbt", source="Orphanet:99907"} xref: Orphanet:99907 {source="MONDO:equivalentTo"} xref: SCTID:725415009 {source="MONDO:equivalentTo"} @@ -389950,6 +408481,8 @@ replaced_by: MONDO:0005668 id: MONDO:0020537 name: obsolete occupational allergic alveolitis def: "OBSOLETE. Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" [Orphanet:99909] +subset: gard_rare {source="GARD:19704"} +xref: GARD:19704 {source="MONDO:obsoleteEquivalent", source="Orphanet:99909"} xref: Orphanet:99909 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -389963,12 +408496,14 @@ is_obsolete: true id: MONDO:0020538 name: malignant dysgerminomatous germ cell tumor of ovary def: "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." [Orphanet:99912] +subset: gard_rare {source="GARD:19705"} subset: ordo_disease {source="Orphanet:99912"} synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912] synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912] synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912] synonym: "malignant dysgerminomatous germ cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912] +xref: GARD:19705 {source="Orphanet:99912"} xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"} xref: Orphanet:99912 {source="MONDO:equivalentTo"} xref: UMLS:CN207439 {source="MONDO:equivalentTo"} @@ -389978,7 +408513,9 @@ is_a: MONDO:0018171 {source="Orphanet:99912"} ! malignant germ cell tumor of ova id: MONDO:0020539 name: extragonadal non-dysgerminomatous germ cell tumor subset: disease_grouping +subset: gard_rare {source="GARD:19706"} subset: ordo_group_of_disorders {source="Orphanet:99913"} +xref: GARD:19706 {source="Orphanet:99913"} xref: Orphanet:99913 {source="MONDO:equivalentTo"} xref: UMLS:CN207440 {source="MONDO:equivalentTo"} is_a: MONDO:0018201 {source="MONDO:Redundant", source="Orphanet:99913"} ! extragonadal germ cell tumor @@ -389990,12 +408527,13 @@ intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor id: MONDO:0020540 name: ovarian gynandroblastoma def: "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." [NCIT:C3072] -subset: gard_rare {source="GARD:0009665"} +subset: gard_rare {source="GARD:9665"} subset: ordo_disease {source="Orphanet:99914"} synonym: "Gynandroblastoma" RELATED [GARD:0009665] synonym: "Gynandroblastoma of ovary" EXACT [NCIT:C3072] synonym: "Gynandroblastoma of the ovary" EXACT [NCIT:C3072] xref: EFO:1000422 {source="MONDO:equivalentTo"} +xref: GARD:9665 {source="Orphanet:99914"} xref: ICD10CM:D39.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"} xref: ICD10CM:D40.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"} xref: ICDO:8632/1 {source="NCIT:C3072"} @@ -390013,7 +408551,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9665/gynandr id: MONDO:0020541 name: maligant granulosa cell tumor of ovary def: "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." [NCIT:C8403] -subset: gard_rare +subset: gard_rare {source="GARD:19707"} subset: ordo_disease {source="Orphanet:99915"} synonym: "adult granulosa cell tumor of the ovary" RELATED [GARD:0008642] synonym: "adult granulosa cell tumour of the ovary" RELATED OMO:0003005 [] @@ -390043,6 +408581,7 @@ synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403] synonym: "malignant ovarian granulosa cell tumour" EXACT OMO:0003005 [] synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "ovarian granulosa cell tumour of adults" EXACT OMO:0003005 [] +xref: GARD:19707 {source="Orphanet:99915"} xref: ICD10CM:C56 {source="Orphanet:99915", source="Orphanet:99915/ntbt"} xref: MESH:D006106 {source="Orphanet:99915", source="Orphanet:99915/e"} xref: NCIT:C8403 {source="MONDO:equivalentTo"} @@ -390064,6 +408603,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8642/granulo id: MONDO:0020542 name: malignant Sertoli-Leydig cell tumor of ovary def: "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." [Orphanet:99916] +subset: gard_rare {source="GARD:5495"} subset: ordo_disease {source="Orphanet:99916"} synonym: "Androblastoma" EXACT [Orphanet:99916] synonym: "Arrhenoblastoma" EXACT [Orphanet:99916] @@ -390080,6 +408620,7 @@ synonym: "ovarian Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/ma synonym: "ovarian sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "virilizing ovarian tumor" EXACT [Orphanet:99916] synonym: "virilizing ovarian tumour" EXACT OMO:0003005 [] +xref: GARD:5495 {source="Orphanet:99916"} xref: ICD10CM:C56 {source="Orphanet:99916/ntbt", source="Orphanet:99916"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99916 {source="MONDO:equivalentTo"} @@ -390098,8 +408639,10 @@ id: MONDO:0020543 name: theca steroid-producing cell malignant tumor of ovary, not further specified def: "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." [Orphanet:99917] comment: Editor note: TODO +subset: gard_rare {source="GARD:19708"} subset: ordo_disease {source="Orphanet:99917"} synonym: "theca (steroid-producing) cell cancer, not further specified" EXACT [Orphanet:99917] +xref: GARD:19708 {source="Orphanet:99917"} xref: ICD10CM:C56 {source="Orphanet:99917", source="Orphanet:99917/ntbt"} xref: Orphanet:99917 {source="MONDO:equivalentTo"} xref: UMLS:CN207444 {source="MONDO:equivalentTo"} @@ -390109,10 +408652,12 @@ is_a: MONDO:0018172 {source="Orphanet:99917"} ! malignant sex cord stromal tumor id: MONDO:0020544 name: streptococcal toxic-shock syndrome def: "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection." [Orphanet:99918] +subset: gard_rare {source="GARD:19709"} subset: ordo_etiological_subtype {source="Orphanet:99918"} synonym: "streptococcal TSS" EXACT [Orphanet:99918] synonym: "Streptococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus toxic shock syndrome" EXACT [] +xref: GARD:19709 {source="Orphanet:99918"} xref: ICD10CM:A48.3 {source="Orphanet:99918/ntbt", source="Orphanet:99918"} xref: MedDRA:10044251 {source="Orphanet:99918/e", source="Orphanet:99918"} xref: Orphanet:99918 {source="MONDO:equivalentTo"} @@ -390126,10 +408671,12 @@ intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus id: MONDO:0020545 name: staphylococcal toxic-shock syndrome def: "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." [Orphanet:99919] +subset: gard_rare {source="GARD:19710"} subset: ordo_etiological_subtype {source="Orphanet:99919"} synonym: "staphylococcal TSS" EXACT [Orphanet:99919] synonym: "Staphylococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Staphylococcus toxic shock syndrome" EXACT [] +xref: GARD:19710 {source="Orphanet:99919"} xref: ICD10CM:A48.3 {source="Orphanet:99919/ntbt", source="Orphanet:99919"} xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10044250 {source="Orphanet:99919/e", source="Orphanet:99919"} @@ -390145,7 +408692,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus id: MONDO:0020546 name: acute graft versus host disease def: "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." [NCIT:C4980] -subset: gard_rare {source="GARD:0006544"} +subset: gard_rare {source="GARD:6544"} subset: ordo_clinical_subtype {source="Orphanet:99920"} synonym: "acute graft vs. host disease" EXACT [MONDO:0005410] synonym: "acute GVHD" RELATED [GARD:0006544] @@ -390153,6 +408700,7 @@ synonym: "fulminant graft versus host disease" EXACT [NCIT:C4980] synonym: "graft versus host disease, acute" EXACT [MONDO:patterns/acute] synonym: "GVHD, acute" EXACT [NCIT:C4980] xref: EFO:0004599 {source="MONDO:equivalentTo"} +xref: GARD:6544 {source="Orphanet:99920"} xref: ICD10CM:D89.810 {source="MONDO:equivalentTo"} xref: ICD10CM:T86.0 {source="Orphanet:99920", source="Orphanet:99920/ntbt"} xref: ICD9:279.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -390176,11 +408724,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6544/acute-g id: MONDO:0020547 name: chronic graft versus host disease def: "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." [https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease] -subset: gard_rare {source="GARD:0010964"} +subset: gard_rare {source="GARD:10964"} subset: ordo_clinical_subtype {source="Orphanet:99921"} synonym: "chronic GVHD" RELATED [GARD:0010964] synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic] synonym: "GVHD, chronic" EXACT [NCIT:C4981] +xref: GARD:10964 {source="Orphanet:99921"} xref: ICD10CM:D89.811 {source="MONDO:equivalentTo"} xref: ICD10CM:T86.0 {source="Orphanet:99921/ntbt", source="Orphanet:99921"} xref: ICD9:279.52 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -390199,7 +408748,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10964/chroni id: MONDO:0020548 name: ocular pemphigoid def: "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." [Orphanet:99922] +subset: gard_rare {source="GARD:8759"} subset: ordo_disease {source="Orphanet:99922"} +xref: GARD:8759 {source="Orphanet:99922"} xref: ICD10EXP:H13.3* {source="Orphanet:99922", source="Orphanet:99922/e"} xref: ICD10EXP:L12+ {source="Orphanet:99922", source="Orphanet:99922/e"} xref: MedDRA:10067776 {source="Orphanet:99922", source="Orphanet:99922/e"} @@ -390212,6 +408763,7 @@ is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder id: MONDO:0020549 name: invasive hydatidiform mole def: "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." [NCIT:C6985] +subset: gard_rare {source="GARD:19711"} subset: ordo_disease {source="Orphanet:99925"} synonym: "chorioadenoma" EXACT [NCIT:C6985] synonym: "chorioadenoma Destruens" EXACT [NCIT:C6985] @@ -390221,6 +408773,7 @@ synonym: "invasive gestational trophoblastic neoplasm" EXACT [NCIT:C6985] synonym: "invasive hydatidiform Mole" EXACT [NCIT:C6985] synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985] synonym: "invasive Mole" EXACT [NCIT:C6985] +xref: GARD:19711 {source="Orphanet:99925"} xref: ICD10CM:D39.2 {source="Orphanet:99925", source="Orphanet:99925/ntbt"} xref: ICDO:9100/1 {source="NCIT:C6985"} xref: MESH:D002820 {source="MONDO:equivalentTo"} @@ -390239,12 +408792,14 @@ intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive id: MONDO:0020550 name: gestational choriocarcinoma def: "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." [Orphanet:99926] +subset: gard_rare {source="GARD:19712"} subset: ordo_disease {source="Orphanet:99926"} synonym: "gestational choriocarcinoma" EXACT [NCIT:C4646] synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:2025] synonym: "gestational chorionepithelioma" EXACT [DOID:2025] synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025] xref: DOID:2025 {source="MONDO:equivalentTo"} +xref: GARD:19712 {source="Orphanet:99926"} xref: ICD10CM:C58 {source="Orphanet:99926", source="Orphanet:99926/ntbt"} xref: ICD9:181 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -390268,6 +408823,7 @@ replaced_by: MONDO:0006248 id: MONDO:0020552 name: placental site trophoblastic tumor def: "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." [Orphanet:99928] +subset: gard_rare {source="GARD:7403"} subset: ordo_disease {source="Orphanet:99928"} synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757] synonym: "placental site gestational trophoblastic tumour" EXACT OMO:0003005 [] @@ -390281,6 +408837,7 @@ synonym: "placental-site GTT" EXACT [NCIT:C3757] synonym: "PSST" EXACT ABBREVIATION [Orphanet:99928] xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"} xref: EFO:1001111 {source="MONDO:equivalentTo"} +xref: GARD:7403 {source="Orphanet:99928"} xref: ICD10CM:D39.2 {source="Orphanet:99928", source="Orphanet:99928/ntbt"} xref: ICDO:9104/1 {source="NCIT:C3757"} xref: MESH:D018245 {source="Orphanet:99928/e", source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="Orphanet:99928"} @@ -390297,7 +408854,9 @@ is_a: MONDO:0018944 {source="NCIT:C3757", source="Orphanet:99928"} ! gestational id: MONDO:0020553 name: secondary pulmonary hemosiderosis def: "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" [Orphanet:99930] +subset: gard_rare {source="GARD:19713"} subset: ordo_disease {source="Orphanet:99930"} +xref: GARD:19713 {source="Orphanet:99930"} xref: ICD10EXP:E83.1+ {source="Orphanet:99930/ntbt", source="Orphanet:99930"} xref: ICD10EXP:J99.8* {source="Orphanet:99930/ntbt", source="Orphanet:99930"} xref: Orphanet:99930 {source="MONDO:equivalentTo"} @@ -390312,8 +408871,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020554 name: Heiner syndrome def: "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." [Orphanet:99932] +subset: gard_rare {source="GARD:19714"} subset: ordo_clinical_subtype {source="Orphanet:99932"} synonym: "cow's milk hypersensitivity" EXACT [Orphanet:99932] +xref: GARD:19714 {source="Orphanet:99932"} xref: ICD10EXP:E83.1+ {source="Orphanet:99932/ntbt", source="Orphanet:99932"} xref: ICD10EXP:J99.8* {source="Orphanet:99932/ntbt", source="Orphanet:99932"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -390326,8 +408887,10 @@ is_a: MONDO:0020553 {source="Orphanet:99932"} ! secondary pulmonary hemosiderosi id: MONDO:0020555 name: pleuropulmonary blastoma type 1 def: "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." [NCIT:P378] +subset: gard_rare {source="GARD:19715"} subset: ordo_clinical_subtype {source="Orphanet:99933"} synonym: "type I pleuropulmonary blastoma" EXACT [NCIT:C45626] +xref: GARD:19715 {source="Orphanet:99933"} xref: ICD10CM:C34.1 {source="Orphanet:99933", source="Orphanet:99933/nd"} xref: ICD10CM:C34.2 {source="Orphanet:99933", source="Orphanet:99933/nd"} xref: ICD10CM:C34.3 {source="Orphanet:99933", source="Orphanet:99933/nd"} @@ -390344,8 +408907,10 @@ is_a: MONDO:0011014 {source="NCIT:C45626", source="Orphanet:99933"} ! pleuropulm id: MONDO:0020556 name: pleuropulmonary blastoma type 2 def: "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." [NCIT:P378] +subset: gard_rare {source="GARD:19716"} subset: ordo_clinical_subtype {source="Orphanet:99934"} synonym: "type II pleuropulmonary blastoma" EXACT [NCIT:C45627] +xref: GARD:19716 {source="Orphanet:99934"} xref: ICD10CM:C34.1 {source="Orphanet:99934", source="Orphanet:99934/nd"} xref: ICD10CM:C34.2 {source="Orphanet:99934", source="Orphanet:99934/nd"} xref: ICD10CM:C34.3 {source="Orphanet:99934", source="Orphanet:99934/nd"} @@ -390362,8 +408927,10 @@ is_a: MONDO:0011014 {source="NCIT:C45627", source="Orphanet:99934"} ! pleuropulm id: MONDO:0020557 name: pleuropulmonary blastoma type 3 def: "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." [NCIT:P378] +subset: gard_rare {source="GARD:19717"} subset: ordo_clinical_subtype {source="Orphanet:99935"} synonym: "type III pleuropulmonary blastoma" EXACT [NCIT:C45628] +xref: GARD:19717 {source="Orphanet:99935"} xref: ICD10CM:C34.1 {source="Orphanet:99935", source="Orphanet:99935/nd"} xref: ICD10CM:C34.2 {source="Orphanet:99935", source="Orphanet:99935/nd"} xref: ICD10CM:C34.3 {source="Orphanet:99935", source="Orphanet:99935/nd"} @@ -390380,9 +408947,11 @@ is_a: MONDO:0011014 {source="NCIT:C45628", source="Orphanet:99935"} ! pleuropulm id: MONDO:0020558 name: autosomal dominant Charcot-Marie-Tooth disease type 2K def: "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:99944] +subset: gard_rare {source="GARD:9199"} subset: ordo_disease {source="Orphanet:99944"} synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886] synonym: "CMT2K" EXACT ABBREVIATION [Orphanet:99944] +xref: GARD:9199 {source="Orphanet:99944"} xref: ICD10CM:G60.0 {source="Orphanet:99944/attributed", source="Orphanet:99944/ntbt", source="Orphanet:99944"} xref: NCIT:C133886 {source="MONDO:equivalentTo"} xref: Orphanet:99944 {source="MONDO:equivalentTo"} @@ -390397,7 +408966,9 @@ is_a: MONDO:0018993 {source="Orphanet:99944"} ! Charcot-Marie-Tooth disease type id: MONDO:0020559 name: O'Sullivan-McLeod syndrome def: "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." [Orphanet:99965] +subset: gard_rare {source="GARD:19718"} subset: ordo_clinical_subtype {source="Orphanet:99965"} +xref: GARD:19718 {source="Orphanet:99965"} xref: ICD10CM:G12.8 {source="Orphanet:99965/ntbt", source="Orphanet:99965"} xref: MedDRA:10069682 {source="Orphanet:99965", source="Orphanet:99965/e"} xref: Orphanet:99965 {source="MONDO:equivalentTo"} @@ -390408,6 +408979,7 @@ is_a: MONDO:0011224 {source="Orphanet:99965"} ! monomelic amyotrophy id: MONDO:0020560 name: atypical teratoid rhabdoid tumor def: "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." [Orphanet:99966] +subset: gard_rare {source="GARD:16926"} subset: ordo_clinical_subtype {source="Orphanet:99966"} synonym: "AT/RT" EXACT [DOID:2129, NCIT:C6906] synonym: "ATRT" EXACT ABBREVIATION [Orphanet:99966] @@ -390458,6 +409030,7 @@ synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 [] synonym: "rhabdoid tumour predisposition syndrome" RELATED OMO:0003005 [] xref: DOID:2129 {source="MONDO:equivalentTo"} xref: EFO:1002008 {source="MONDO:equivalentTo"} +xref: GARD:16926 {source="Orphanet:99966"} xref: ICD10CM:C49.9 {source="Orphanet:99966/ntbt", source="Orphanet:99966"} xref: ICDO:9508/3 {source="NCIT:C6906"} xref: NCIT:C6906 {source="MONDO:equivalentTo", source="DOID:2129"} @@ -390475,9 +409048,11 @@ relationship: excluded_subClassOf MONDO:0001657 {source="DOID:2129"} ! brain can id: MONDO:0020561 name: myxoid/round cell liposarcoma def: "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." [Orphanet:99967] +subset: gard_rare {source="GARD:7157"} subset: ordo_histopathological_subtype {source="Orphanet:99967"} synonym: "MRCLS" EXACT ABBREVIATION [Orphanet:99967] synonym: "myxoid/round-cell liposarcoma" EXACT [ONCOTREE:MRLS] +xref: GARD:7157 {source="Orphanet:99967"} xref: ICD10CM:C49.9 {source="Orphanet:99967", source="Orphanet:99967/ntbt"} xref: MESH:D018208 {source="Orphanet:99967", source="Orphanet:99967/e"} xref: NCIT:C27781 {source="ONCOTREE:MRLS"} @@ -390490,6 +409065,7 @@ is_a: MONDO:0005060 {source="ONCOTREE:MRLS", source="Orphanet:99967"} ! liposarc id: MONDO:0020562 name: pleomorphic liposarcoma def: "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." [Orphanet:99969] +subset: gard_rare {source="GARD:19719"} subset: ordo_histopathological_subtype {source="Orphanet:99969"} synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705] synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [DOID:5702] @@ -390497,6 +409073,7 @@ synonym: "PLLS" RELATED ABBREVIATION [ONCOTREE:PLLS] synonym: "PLS" EXACT ABBREVIATION [Orphanet:99969] xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"} xref: EFO:0003083 {source="MONDO:equivalentTo"} +xref: GARD:19719 {source="Orphanet:99969"} xref: ICD10CM:C49.9 {source="Orphanet:99969", source="Orphanet:99969/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8854/3 {source="NCIT:C3705"} @@ -390513,11 +409090,13 @@ is_a: MONDO:0005060 {source="DOID:5702", source="EFO:0003083", source="NCIT:C370 id: MONDO:0020563 name: Dedifferentiated liposarcoma def: "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." [Orphanet:99970] +subset: gard_rare {source="GARD:19720"} subset: ordo_histopathological_subtype {source="Orphanet:99970"} synonym: "DDLS" EXACT ABBREVIATION [ONCOTREE:DDLS, Orphanet:99970] synonym: "Dedifferentiated liposarcoma" EXACT [NCIT:C3704] xref: DOID:0080531 {source="MONDO:equivalentTo"} xref: EFO:0003085 {source="MONDO:equivalentTo"} +xref: GARD:19720 {source="Orphanet:99970"} xref: ICD10CM:C49.9 {source="Orphanet:99970/ntbt", source="Orphanet:99970"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8858/3 {source="NCIT:C3704"} @@ -390551,7 +409130,9 @@ replaced_by: MONDO:0003345 id: MONDO:0020567 name: apnea of prematurity def: "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." [Orphanet:99981] +subset: gard_rare {source="GARD:19722"} subset: ordo_clinical_subtype {source="Orphanet:99981"} +xref: GARD:19722 {source="Orphanet:99981"} xref: ICD10CM:P28.4 {source="Orphanet:99981/ntbt", source="Orphanet:99981"} xref: NCIT:C98823 {source="MONDO:equivalentTo"} xref: Orphanet:99981 {source="MONDO:equivalentTo"} @@ -390563,7 +409144,9 @@ is_a: MONDO:0019092 {source="Orphanet:99981"} ! infantile apnea id: MONDO:0020568 name: cutaneous myiasis subset: disease_grouping +subset: gard_rare {source="GARD:19723"} subset: ordo_group_of_disorders {source="Orphanet:99983"} +xref: GARD:19723 {source="Orphanet:99983"} xref: ICD10CM:B87.0 {source="Orphanet:99983", source="Orphanet:99983/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:99983 {source="MONDO:equivalentTo"} xref: SCTID:240877000 {source="MONDO:equivalentTo"} @@ -390574,8 +409157,10 @@ is_a: MONDO:0019147 {source="Orphanet:99983"} ! myiasis id: MONDO:0020569 name: intermediate DEND syndrome def: "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." [Orphanet:99989] +subset: gard_rare {source="GARD:19724"} subset: ordo_clinical_subtype {source="Orphanet:99989"} synonym: "developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" EXACT [Orphanet:99989] +xref: GARD:19724 {source="Orphanet:99989"} xref: Orphanet:99989 {source="MONDO:equivalentTo"} xref: UMLS:CN207495 {source="MONDO:equivalentTo"} is_a: MONDO:0019207 {source="Orphanet:99989"} ! DEND syndrome @@ -390589,7 +409174,9 @@ replaced_by: MONDO:0005680 [Term] id: MONDO:0020571 name: relapsing epidemic typhus +subset: gard_rare {source="GARD:19726"} subset: ordo_clinical_subtype {source="Orphanet:99991"} +xref: GARD:19726 {source="Orphanet:99991"} xref: ICD10CM:A75.0 {source="Orphanet:99991/ntbt", source="Orphanet:99991"} xref: Orphanet:99991 {source="MONDO:equivalentTo"} xref: UMLS:CN207497 {source="MONDO:equivalentTo"} @@ -390599,6 +409186,7 @@ is_a: MONDO:0019362 {source="Orphanet:99991"} ! epidemic louse-borne typhus id: MONDO:0020572 name: complex regional pain syndrome type 2 def: "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." [Orphanet:99994] +subset: gard_rare {source="GARD:19727"} subset: ordo_clinical_subtype {source="Orphanet:99994"} synonym: "causalgia" EXACT [MONDO:0006691, Orphanet:99994] synonym: "Complex regional pain syndrome II" EXACT [NCIT:C121572] @@ -390606,6 +409194,7 @@ synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222] synonym: "CRPS II" EXACT [NCIT:C121572] xref: DOID:3222 {source="MONDO:equivalentTo", source="EFO:1000854"} xref: EFO:1000854 {source="MONDO:equivalentTo"} +xref: GARD:19727 {source="Orphanet:99994"} xref: ICD10CM:G56.4 {source="Orphanet:99994", source="Orphanet:99994/e"} xref: MedDRA:10007825 {source="EFO:1000854"} xref: MedDRA:10064335 {source="Orphanet:99994", source="Orphanet:99994/e"} @@ -391051,6 +409640,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020603 name: X-linked chondrodysplasia punctata 2 def: "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." [Orphanet:35173] +subset: gard_rare {source="GARD:6189"} synonym: "CDPX2" EXACT ABBREVIATION [OMIM:302960, Orphanet:35173, PMID:20643494] synonym: "CDPXD" EXACT ABBREVIATION [GARD:0006189, OMIM:302960, Orphanet:35173] synonym: "chondrodysplasia punctata 2 X-linked dominant" EXACT [GARD:0006189] @@ -391066,6 +409656,7 @@ synonym: "EBP chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by synonym: "Happle syndrome" EXACT [GARD:0006189, OMIM:302960] synonym: "X-linked chondrodysplasia punctata type 2" EXACT [Orphanet:35173] xref: DOID:0080352 {source="MONDO:equivalentTo"} +xref: GARD:6189 {source="Orphanet:35173"} xref: OMIM:302960 {source="DOID:0080352", source="MONDO:equivalentTo"} xref: Orphanet:35173 {source="OMIM:302960", source="MONDO:equivalentTo", source="GARD:0006189", source="DOID:0060292"} xref: UMLS:C0282102 {source="OMIM:302960", source="Orphanet:35173", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35173/e"} @@ -391370,9 +409961,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617711"} ! inheri [Term] id: MONDO:0020628 name: microcephaly, growth restriction, and increased sister chromatid exchange 2 +subset: gard_rare {source="GARD:18507"} subset: ordo_disease synonym: "MGRISCE2" RELATED ABBREVIATION [OMIM:618097] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 2" EXACT [OMIM:618097] +xref: GARD:18507 {source="OMIM:618097"} xref: OMIM:618097 {source="MONDO:equivalentTo", source="Orphanet:508512"} xref: Orphanet:508512 is_a: MONDO:0020629 {source="OMIM:618097"} ! microcephaly, growth restriction and increased sister chromatid exchange @@ -391404,10 +409997,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020631 name: epileptic encephalopathy, infantile or early childhood, 2 +subset: gard_rare {source="GARD:16258"} synonym: "developmental and epileptic encephalopathy 92" EXACT [OMIM:617829, OMIM:genemap2] synonym: "epileptic encephalopathy, infantile or early childhood, 2" EXACT [OMIM:617829] synonym: "IECEE2" EXACT ABBREVIATION [OMIM:617829] xref: DOID:0080471 {source="MONDO:equivalentTo"} +xref: GARD:16258 {source="OMIM:617829"} xref: OMIM:617829 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:617829"} xref: UMLS:CN757794 {source="MONDO:equivalentTo"} @@ -391417,10 +410012,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020632 name: epileptic encephalopathy, infantile or early childhood, 3 +subset: gard_rare {source="GARD:16285"} synonym: "developmental and epileptic encephalopathy 93" EXACT [OMIM:618012, OMIM:genemap2] synonym: "epileptic encephalopathy, infantile or early childhood, 3" EXACT [OMIM:618012] synonym: "IECEE3" EXACT ABBREVIATION [OMIM:618012] xref: DOID:0112275 {source="MONDO:equivalentTo"} +xref: GARD:16285 {source="OMIM:618012"} xref: OMIM:618012 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618012"} xref: UMLS:CN248521 {source="MONDO:equivalentTo"} @@ -391518,8 +410115,9 @@ intersection_of: has_characteristic SO:0000056 ! hypoploid id: MONDO:0020640 name: autoimmune encephalitis def: "Inflammation of the brain secondary to an immune response triggered by the body itself." [NCIT:C122414] -subset: gard_rare +subset: gard_rare {source="GARD:11979"} synonym: "autoimmune encephalitis" EXACT [NCIT:C122414] +xref: GARD:11979 {source="Orphanet:622014"} xref: NCIT:C122414 {source="MONDO:equivalentTo"} xref: Orphanet:622014 {source="MONDO:equivalentTo"} xref: SCTID:95643007 {source="MONDO:equivalentTo"} @@ -391782,10 +410380,12 @@ intersection_of: disease_has_location UBERON:0000056 ! ureter [Term] id: MONDO:0020659 name: upper tract urothelial carcinoma +subset: gard_rare {source="GARD:9376"} subset: ordo_disease synonym: "transitional cell carcinoma of the pelvis and ureter" EXACT [Orphanet:598216] synonym: "transitional cell carcinoma of the upper urinary tract" EXACT [Orphanet:598216] synonym: "UTUC" EXACT ABBREVIATION [Orphanet:598216] +xref: GARD:9376 {source="Orphanet:598216"} xref: NCIT:C7716 {source="ONCOTREE:UTUC"} xref: ONCOTREE:UTUC {source="MONDO:equivalentTo"} xref: Orphanet:598216 {source="MONDO:equivalentTo"} @@ -391899,12 +410499,14 @@ relationship: disease_has_feature HP:0012219 ! Erythema nodosum [Term] id: MONDO:0020667 name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +subset: gard_rare {source="GARD:22389"} synonym: "ABS2" RELATED ABBREVIATION [OMIM:207410] synonym: "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" EXACT [OMIM:207410] synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410] synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410] synonym: "trapezoidocephaly-synostosis Syndrome" RELATED [OMIM:207410] xref: DOID:0081290 {source="MONDO:equivalentTo"} +xref: GARD:22389 {source="Orphanet:596008"} xref: OMIM:207410 {source="MONDO:equivalentTo"} xref: Orphanet:596008 {source="MONDO:equivalentTo"} xref: Orphanet:83 {source="OMIM:207410"} @@ -391916,7 +410518,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020668 name: obsolete spastic paraplegia 5B -subset: gard_rare synonym: "moved to 270800" RELATED [OMIM:600146] synonym: "SPG5B" RELATED ABBREVIATION [GARD:0004917] xref: OMIM:600146 {source="GARD:0004917", source="MONDO:obsoleteEquivalentObsolete"} @@ -392231,7 +410832,6 @@ is_a: MONDO:0005098 ! stroke disorder id: MONDO:0020689 name: AIDS dementia complex def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526] -subset: gard_rare synonym: "Acquired immune deficiency syndrome dementia complex" RELATED [EFO:0002608, UMLS:C0001849] synonym: "acquired immune deficiency syndrome dementia complex" RELATED [] synonym: "Acquired immune deficiency syndrome-related dementia" RELATED [UMLS:C0001849] @@ -392311,12 +410911,14 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset [Term] id: MONDO:0020692 name: spondylocostal dysostosis 1, autosomal recessive +subset: gard_rare {source="GARD:10726"} synonym: "SCDO1" RELATED ABBREVIATION [OMIM:277300] synonym: "spondylocostal dysostosis 1, autosomal recessive" EXACT [OMIM:277300] synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [OMIM:277300] synonym: "spondylothoracic dysplasia" RELATED DEPRECATED [OMIM:277300] synonym: "vertebral anomalies" RELATED [OMIM:277300] xref: DOID:0112365 {source="MONDO:equivalentTo"} +xref: GARD:10726 {source="OMIM:277300"} xref: OMIM:277300 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="OMIM:277300"} xref: UMLS:C0265343 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:277300"} @@ -392330,7 +410932,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020693 name: glycogen storage disease due to liver phosphorylase kinase deficiency def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:264580] +subset: gard_rare {source="GARD:17261"} subset: ordo_disease {source="Orphanet:264580"} +xref: GARD:17261 {source="Orphanet:264580"} xref: ICD10CM:E74.0 {source="Orphanet:264580"} xref: Orphanet:264580 {source="MONDO:equivalentTo"} xref: UMLS:C2751643 {source="Orphanet:264580"} @@ -392443,7 +411047,6 @@ is_a: MONDO:0021138 {source="NCIT:C7064"} ! bone marrow cancer id: MONDO:0020704 name: inherited rippling muscle disease def: "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." [https://orcid.org/0000-0001-5208-3432, Orphanet:97238] -subset: gard_rare {source="GARD:0009164"} subset: ordo_disease synonym: "rippling muscle disease" BROAD [MONDO:Lexical, OMIM:606072] synonym: "RMD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606072] @@ -392600,6 +411203,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020716 name: familial thyroid dyshormonogenesis 1 +subset: gard_rare {source="GARD:18188"} synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 1" EXACT [OMIM:274400] synonym: "iodine accumulation, transport, or trapping defect" EXACT [OMIM:274400] synonym: "TDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274400] @@ -392607,6 +411211,7 @@ synonym: "thyroid dyshormonogenesis 1" EXACT [MONDO:Lexical, OMIM:274400] synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1, OMIM:274400] synonym: "thyroid hormonogenesis, genetic defect in, 1" EXACT [OMIM:274400] xref: DOID:0112185 {source="MONDO:equivalentTo"} +xref: GARD:18188 {source="OMIM:274400"} xref: OMIM:274400 {source="MONDO:equivalentTo"} xref: Orphanet:95716 is_a: MONDO:0010132 {source="https://orcid.org/0000-0001-5208-3432"} ! familial thyroid dyshormonogenesis @@ -392630,10 +411235,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020718 name: congenital short bowel syndrome, autosomal recessive +subset: gard_rare {source="GARD:18585"} synonym: "congenital short bowel syndrome" BROAD [MONDO:Lexical, OMIM:615237, OMIM:genemap2] synonym: "congenital short bowel syndrome 1" EXACT CLINGEN_PREFERRED [] synonym: "congenital short bowel syndrome due to CLMP variation" EXACT [https://orcid.org/0000-0001-5493-2602] synonym: "CSBS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615237] +xref: GARD:18585 {source="OMIM:615237"} xref: OMIM:615237 {source="MONDO:equivalentTo"} xref: Orphanet:2301 {source="OMIM:615237"} xref: UMLS:C0021847 {source="OMIM:615237", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -392668,6 +411275,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020721 name: X-linked sideroblastic anemia 1 +subset: gard_rare {source="GARD:9456"} subset: ordo_disease {source="Orphanet:75563"} synonym: "anaemia hereditary sideroblastic" RELATED OMO:0003005 [] synonym: "anaemia sex-linked hypochromic sideroblastic" RELATED OMO:0003005 [] @@ -392692,6 +411300,7 @@ synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419] synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563] xref: DOID:0060063 {source="MONDO:equivalentTo"} +xref: GARD:9456 {source="Orphanet:75563"} xref: ICD10CM:D64.0 {source="Orphanet:75563", source="Orphanet:75563/attributed", source="Orphanet:75563/ntbt"} xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e"} xref: OMIM:300751 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e", source="DOID:0060063"} @@ -392726,6 +411335,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020723 name: vitamin D-dependent rickets, type 1A +subset: gard_rare {source="GARD:18636"} synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:264700] synonym: "1-Alpha-Hydroxylase deficiency" RELATED [OMIM:264700] synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [OMIM:264700] @@ -392737,6 +411347,7 @@ synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lex synonym: "vitamin D-dependent rickets, type 1A" EXACT [OMIM:264700] synonym: "vitamin D-dependent rickets, type I" EXACT [OMIM:264700, OMIM:genemap2] xref: DOID:0080886 {source="MONDO:equivalentTo"} +xref: GARD:18636 {source="OMIM:264700"} xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:equivalentTo", source="Orphanet:289157/e"} xref: Orphanet:289157 {source="OMIM:264700"} xref: UMLS:C0268689 {source="Orphanet:289157", source="NCIT:C131073", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264700"} @@ -392806,6 +411417,7 @@ is_a: MONDO:0002280 {source="NCIT:C35659"} ! anemia id: MONDO:0020726 name: tubulointerstitial kidney disease, autosomal dominant, 2 def: "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." [GARD:0007002] +subset: gard_rare {source="GARD:7002"} subset: ordo_clinical_subtype {source="Orphanet:88949"} synonym: "ADMCKD1" RELATED ABBREVIATION [GARD:0007002] synonym: "ADTKD-MUC1" EXACT [Orphanet:88949, PMID:25738250] @@ -392820,6 +411432,7 @@ synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88949] synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] +xref: GARD:7002 {source="Orphanet:88949"} xref: ICD10CM:Q61.5 {source="Orphanet:88949/attributed", source="Orphanet:88949/ntbt", source="Orphanet:88949"} xref: NCIT:C123171 {source="MONDO:equivalentTo"} xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="Orphanet:34149/e", source="GARD:0010801"} @@ -392998,10 +411611,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020736 name: uncombable hair syndrome 1 +subset: gard_rare {source="GARD:15122"} synonym: "pili trianguli Et canaliculi" RELATED [OMIM:191480] synonym: "UHS1" RELATED ABBREVIATION [OMIM:191480] synonym: "uncombable hair syndrome" RELATED [OMIM:191480] synonym: "uncombable hair syndrome 1" EXACT [OMIM:191480] +xref: GARD:15122 {source="OMIM:191480"} xref: OMIM:191480 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} xref: Orphanet:1410 {source="OMIM:191480"} xref: UMLS:C0432347 {source="Orphanet:1410", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191480", source="Orphanet:1410/e"} @@ -393013,10 +411628,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020737 name: optic atrophy 10 with or without ataxia, intellectual disability, and seizures +subset: gard_rare {source="GARD:18200"} synonym: "OPA10" RELATED DEPRECATED [OMIM:616732] synonym: "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" EXACT [OMIM:616732] synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" RELATED DEPRECATED [OMIM:616732] xref: DOID:0111434 {source="MONDO:equivalentTo"} +xref: GARD:18200 {source="OMIM:616732"} xref: OMIM:616732 {source="Orphanet:98676", source="MONDO:equivalentTo"} is_a: MONDO:0043878 {source="DC-OMIM:616732", source="OMIM:616732"} ! hereditary optic atrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18647 {source="MONDO:mim2gene_medgen"} ! RTN4IP1 @@ -393040,9 +411657,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020739 name: hypercalcemia, infantile, 1 +subset: gard_rare {source="GARD:18434"} synonym: "autosomal recessive infantile hypercalcemia 1" EXACT CLINGEN_PREFERRED [] synonym: "HCINF1" EXACT ABBREVIATION [OMIM:143880] synonym: "hypercalcemia, infantile, 1" EXACT [OMIM:143880] +xref: GARD:18434 {source="OMIM:143880"} xref: OMIM:143880 {source="MONDO:equivalentTo", source="Orphanet:300547", source="Orphanet:300547/e"} xref: Orphanet:300547 {source="OMIM:143880"} xref: UMLS:C0268080 {source="MONDO:equivalentTo", source="OMIM:143880", source="MONDO:ncbi_mim2gene_medline"} @@ -393115,9 +411734,11 @@ replaced_by: MONDO:0008926 id: MONDO:0020743 name: mixed phenotype acute leukemia def: "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." [NCIT:C82179] +subset: gard_rare {source="GARD:17972"} subset: ordo_disease synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179] synonym: "MPAL" EXACT ABBREVIATION [NCIT:C82179] +xref: GARD:17972 {source="Orphanet:530995"} xref: ICD10CM:C95.0 {source="Orphanet:530995"} xref: MedDRA:10067399 {source="Orphanet:530995"} xref: MESH:D015456 {source="Orphanet:530995"} @@ -393192,7 +411813,9 @@ is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitostero [Term] id: MONDO:0020748 name: sitosterolemia 2 +subset: gard_rare {source="GARD:16372"} synonym: "STSL2" EXACT ABBREVIATION [OMIM:618666] +xref: GARD:16372 {source="OMIM:618666"} xref: OMIM:618666 {source="MONDO:equivalentTo"} is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia @@ -393277,7 +411900,7 @@ consider: HP:0012722 [Term] id: MONDO:0020756 name: migraine, familial hemiplegic, 1 -subset: gard_rare +subset: gard_rare {source="GARD:2638"} synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638] synonym: "FHM1" EXACT ABBREVIATION [GARD:0002638, MONDO:Lexical, OMIM:141500] synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638] @@ -393288,6 +411911,7 @@ synonym: "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500] xref: DOID:0111181 {source="MONDO:equivalentTo"} +xref: GARD:2638 {source="OMIM:141500"} xref: MESH:C536890 {source="MONDO:equivalentTo"} xref: OMIM:141500 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:141500"} @@ -393322,9 +411946,11 @@ replaced_by: MONDO:0037872 [Term] id: MONDO:0020759 name: epilepsy, childhood absence, susceptibility to, 1 +subset: gard_rare {source="GARD:18057"} synonym: "ECA1" EXACT ABBREVIATION [OMIM:600131] synonym: "epilepsy, childhood absence, 1" EXACT [OMIM:600131, OMIM:genemap2] synonym: "epilepsy, childhood absence, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:600131] +xref: GARD:18057 {source="OMIM:600131"} xref: OMIM:600131 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:600131"} xref: UMLS:C1838604 {source="OMIM:600131"} @@ -393353,7 +411979,6 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0020761 name: Bowen disease of the skin def: "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." [NCIT:C62571] -subset: gard_rare synonym: "Bowen Disease" RELATED [MESH:D001913] synonym: "Bowen disease" EXACT [NCIT:C62571] synonym: "Bowen disease of the skin" EXACT [NCIT:C62571] @@ -393427,9 +412052,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020766 name: neuropathy, congenital hypomyelinating, 3 +subset: gard_rare {source="GARD:18567"} synonym: "CHN3" EXACT ABBREVIATION [OMIM:618186] synonym: "hypomyelinating neuropathy, congenital, 3" EXACT [OMIM:618186, OMIM:genemap2] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" EXACT [OMIM:618186] +xref: GARD:18567 {source="OMIM:618186"} xref: OMIM:618186 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:618186"} xref: UMLS:C4748608 {source="OMIM:618186"} @@ -393561,6 +412188,8 @@ is_a: MONDO:0043327 {source="MESH:D002559"} ! cerebrospinal fluid leak [Term] id: MONDO:0020774 name: Menke-Hennekam syndrome +subset: gard_rare {source="GARD:22371"} +xref: GARD:22371 {source="Orphanet:592574"} xref: OMIMPS:618332 {source="MONDO:equivalentTo"} xref: Orphanet:592574 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -393646,12 +412275,14 @@ is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss [Term] id: MONDO:0020781 name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +subset: gard_rare {source="GARD:17991"} synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" BROAD [OMIM:617186, OMIM:genemap2] synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1" RELATED [OMIM:617186] synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy" BROAD OMO:0003005 [] synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] synonym: "PEBEL1" RELATED ABBREVIATION [OMIM:617186] xref: EFO:0009158 {source="MONDO:equivalentTo"} +xref: GARD:17991 {source="Orphanet:555407"} xref: OMIM:617186 {source="MONDO:equivalentTo"} xref: Orphanet:555407 {source="MONDO:equivalentTo", source="OMIM:617186"} xref: UMLS:C4310675 {source="OMIM:617186"} @@ -393681,7 +412312,7 @@ intersection_of: has_characteristic PATO:0001863 ! chronic [Term] id: MONDO:0020783 name: capillary malformation-arteriovenous malformation 1 -subset: gard_rare {source="GARD:0009787"} +subset: gard_rare {source="GARD:9787"} subset: ordo_clinical_subtype {source="Orphanet:90307"} synonym: "Capillary Malformation-Arteriovenous Malformation" BROAD [OMIM:608354] synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1" EXACT [OMIM:608354] @@ -393689,6 +412320,7 @@ synonym: "capillary malformation-arteriovenous malformation 1" EXACT CLINGEN_PRE synonym: "CMAVM1" EXACT ABBREVIATION [OMIM:608354] synonym: "Parkes Weber syndrome" EXACT [MONDO:0012017, OMIM:608355] synonym: "PKWS" EXACT ABBREVIATION [OMIM:608355] +xref: GARD:9787 {source="Orphanet:90307"} xref: ICD10CM:Q87.2 {source="Orphanet:90307/attributed", source="Orphanet:90307/ntbt", source="Orphanet:90307"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:608354 {source="MONDO:equivalentTo"} @@ -393726,8 +412358,10 @@ is_obsolete: true [Term] id: MONDO:0020785 name: capillary malformation-arteriovenous malformation 2 +subset: gard_rare {source="GARD:16307"} synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2" RELATED [OMIM:618196] synonym: "CMAVM2" RELATED ABBREVIATION [OMIM:618196] +xref: GARD:16307 {source="OMIM:618196"} xref: OMIM:618196 {source="MONDO:equivalentTo"} xref: Orphanet:1053 {source="OMIM:618196"} xref: UMLS:C4748670 {source="OMIM:618196"} @@ -393827,11 +412461,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0020793 name: oculopharyngodistal myopathy 1 +subset: gard_rare {source="GARD:15097"} synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [OMIM:164310] synonym: "oculopharyngodistal myopathy" BROAD [OMIM:164310] synonym: "oculopharyngodistal myopathy 1" EXACT [OMIM:164310] synonym: "OPDM1" EXACT ABBREVIATION [OMIM:164310] xref: DOID:0081297 {source="MONDO:equivalentTo"} +xref: GARD:15097 {source="OMIM:164310"} xref: OMIM:164310 {source="MONDO:equivalentTo"} xref: UMLS:C1834014 {source="OMIM:164310"} is_a: MONDO:0025193 {source="OMIM:164310"} ! oculopharyngodistal myopathy @@ -393848,9 +412484,11 @@ is_a: MONDO:0005008 {source="NCIT:C43590"} ! colorectal adenocarcinoma [Term] id: MONDO:0020795 name: Silver-Russell syndrome 5 +subset: gard_rare {source="GARD:18465"} synonym: "SILVER-RUSSELL SYNDROME 5" EXACT [OMIM:618908] synonym: "Silver-Russell syndrome 5" EXACT CLINGEN_PREFERRED [] synonym: "SRS5" EXACT ABBREVIATION [OMIM:618908] +xref: GARD:18465 {source="OMIM:618908"} xref: OMIM:618908 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome @@ -393899,9 +412537,11 @@ relationship: realized_in_response_to ECTO:4000025 ! exposure to increased press [Term] id: MONDO:0020798 name: hypoparathyroidism, familial isolated, 2 +subset: gard_rare {source="GARD:18257"} synonym: "FIH2" EXACT ABBREVIATION [OMIM:618883] synonym: "hypoparathyroidism, familial isolated 2" EXACT [OMIM:618883, OMIM:genemap2] synonym: "hypoparathyroidism, familial isolated, 2" EXACT [OMIM:618883] +xref: GARD:18257 {source="OMIM:618883"} xref: OMIM:618883 {source="MONDO:equivalentTo"} is_a: MONDO:0016390 {source="OMIM:618883", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism intersection_of: MONDO:0016390 ! familial hypoparathyroidism @@ -394183,9 +412823,11 @@ is_a: MONDO:0003394 {source="MESH:D003809"} ! dental pulp disorder [Term] id: MONDO:0020820 name: distal arthrogryposis type 2B1 +subset: gard_rare {source="GARD:9909"} synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680, OMIM:genemap2] synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600] xref: DOID:0111600 {source="MONDO:equivalentTo"} +xref: GARD:9909 {source="OMIM:601680"} xref: OMIM:601680 {source="DOID:0111600", source="Orphanet:1147", source="MONDO:equivalentTo", source="Orphanet:1147/e"} is_a: MONDO:0000426 {source="DOID:0111600"} ! autosomal dominant disease is_a: MONDO:0011128 {source="DOID:0111600"} ! Sheldon-hall syndrome @@ -394213,9 +412855,11 @@ intersection_of: disease_has_inflammation_site UBERON:0001103 ! diaphragm [Term] id: MONDO:0020831 name: congenital vertebral-cardiac-renal anomalies syndrome +subset: gard_rare {source="GARD:17961"} subset: ordo_malformation_syndrome synonym: "VCRL" EXACT ABBREVIATION [MONDO:cjm] synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT [OMIMPS:617660] +xref: GARD:17961 {source="Orphanet:521438"} xref: OMIMPS:617660 {source="MONDO:equivalentTo"} xref: Orphanet:521438 {source="MONDO:equivalentTo"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -394226,7 +412870,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617660"} ! inheri [Term] id: MONDO:0020835 name: methemoglobinemia, alpha type +subset: gard_rare {source="GARD:16277"} synonym: "methemoglobinemia, alpha type" EXACT [OMIM:617973] +xref: GARD:16277 {source="OMIM:617973"} xref: OMIM:617973 {source="MONDO:equivalentTo"} xref: Orphanet:330041 {source="OMIM:617973"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -394333,8 +412979,10 @@ is_a: MONDO:0019502 {source="OMIM:618103"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0020847 name: intellectual disability, autosomal dominant 58 +subset: gard_rare {source="GARD:16476"} synonym: "MENTAL RETARDATION, autosomal dominant 58" EXACT [OMIM:618106] synonym: "MRD58" EXACT ABBREVIATION [OMIM:618106] +xref: GARD:16476 {source="OMIM:618106"} xref: OMIM:618106 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="OMIM:618106"} ! autosomal dominant non-syndromic intellectual disability @@ -394361,19 +413009,23 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020850 name: intellectual disability, autosomal recessive 65 +subset: gard_rare {source="GARD:22578"} synonym: "intellectual disability, autosomal recessive 65" EXACT [OMIM:618109] synonym: "mental retardation, autosomal recessive 65" EXACT DEPRECATED [OMIM:618109] synonym: "MRT65" EXACT DEPRECATED [OMIM:618109] xref: DOID:0081226 {source="MONDO:equivalentTo"} +xref: GARD:22578 {source="OMIM:618109"} xref: OMIM:618109 {source="MONDO:equivalentTo"} is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0020851 name: spermatogenic failure 30 +subset: gard_rare {source="GARD:16291"} synonym: "spermatogenic failure 30" EXACT [OMIM:618110] synonym: "SPGF30" EXACT ABBREVIATION [OMIM:618110] xref: DOID:0111913 {source="MONDO:equivalentTo"} +xref: GARD:16291 {source="OMIM:618110"} xref: OMIM:618110 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure @@ -394413,9 +413065,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020855 name: spermatogenic failure 32 +subset: gard_rare {source="GARD:16292"} synonym: "spermatogenic failure 32" EXACT [OMIM:618115] synonym: "SPGF32" EXACT ABBREVIATION [OMIM:618115] xref: DOID:0111925 {source="MONDO:equivalentTo"} +xref: GARD:16292 {source="OMIM:618115"} xref: OMIM:618115 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure @@ -394430,19 +413084,23 @@ is_a: MONDO:0000159 {source="https://orcid.org/0000-0001-5208-3432"} ! bone marr [Term] id: MONDO:0020857 name: ovarian dysgenesis 7 +subset: gard_rare {source="GARD:18043"} synonym: "ODG7" EXACT ABBREVIATION [OMIM:618117] synonym: "OVARIAN DYSGENESIS 7" EXACT [OMIM:618117] xref: DOID:0080499 {source="MONDO:equivalentTo"} +xref: GARD:18043 {source="OMIM:618117"} xref: OMIM:618117 {source="MONDO:equivalentTo"} is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis [Term] id: MONDO:0020858 name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 +subset: gard_rare {source="GARD:18670"} synonym: "MC5DN5" EXACT ABBREVIATION [OMIM:618120] synonym: "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type" EXACT [OMIM:618120] synonym: "mitochondrial complex v (atp synthase) deficiency" EXACT [OMIM:618120, OMIM:genemap2] synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" EXACT [OMIM:618120] +xref: GARD:18670 {source="OMIM:618120"} xref: OMIM:618120 {source="MONDO:equivalentTo"} is_a: MONDO:0000066 ! mitochondrial complex deficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -394761,7 +413419,6 @@ is_a: MONDO:0020979 {source="NCIT:C3074"} ! pilosebaceous hamartoma id: MONDO:0020983 name: myocardial rupture def: "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." [MESH:D006341] -subset: gard_rare synonym: "Cardiac Free Wall Rupture" RELATED [MESH:D006341] synonym: "Cardiac Rupture" RELATED [MESH:D006341, NCIT:C34668] synonym: "Cardiac Ruptures" RELATED [MESH:D006341] @@ -394810,7 +413467,9 @@ is_a: MONDO:0019050 ! inherited hemoglobinopathy id: MONDO:0020999 name: obsolete genetic chronic primary adrenal insufficiency subset: disease_grouping +subset: gard_rare {source="GARD:19804"} subset: ordo_group_of_disorders +xref: GARD:19804 {source="Orphanet:101960", source="MONDO:obsoleteEquivalent"} xref: Orphanet:101960 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -394946,10 +413605,12 @@ property_value: IAO:0000589 "brachydactyly (disease)" xsd:string id: MONDO:0021005 name: faciodigitogenital syndrome def: "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." [MONDO:cjm] +subset: gard_rare {source="GARD:4775"} synonym: "Aarskog syndrome" NARROW [] synonym: "Aarskog-Scott syndrome" NARROW [] synonym: "faciogenital dysplasia" RELATED [] xref: DOID:0111824 {source="MONDO:equivalentTo"} +xref: GARD:4775 {source="Orphanet:915"} xref: ICD10CM:Q87.1 {source="Orphanet:915/inclusion", source="Orphanet:915/ntbt"} xref: MedDRA:10067148 {source="Orphanet:915/e"} xref: Orphanet:915 {source="MONDO:equivalentTo"} @@ -395039,6 +413700,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021013 name: trichothiodystrophy 4, nonphotosensitive def: "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." [NCIT:C146899] +subset: gard_rare {source="GARD:5271"} synonym: "Amish brittle hair brain syndrome" RELATED [OMIM:234050] synonym: "BIDS syndrome" RELATED [OMIM:234050] synonym: "hair-brain syndrome" RELATED [OMIM:234050] @@ -395051,6 +413713,7 @@ synonym: "trichothiodystrophy, nonphotosensitive 1" RELATED [OMIM:234050] synonym: "trichothiodystrophy-neurocutaneous syndrome" RELATED [OMIM:234050] synonym: "TTD4" EXACT ABBREVIATION [OMIM:234050] xref: DOID:0050528 {source="MONDO:equivalentTo"} +xref: GARD:5271 {source="OMIM:234050"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:783.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C146899 {source="MONDO:equivalentTo"} @@ -395091,6 +413754,7 @@ id: MONDO:0021018 name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) def: "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, Orphanet:34516] comment: Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"} +subset: gard_rare {source="GARD:12528"} subset: ordo_disease {source="Orphanet:34516"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516] @@ -395108,6 +413772,7 @@ synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [OMIM:603511] synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:603511] synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511] xref: DOID:0110305 {source="MONDO:equivalentTo"} +xref: GARD:12528 {source="Orphanet:34516"} xref: ICD10CM:G71.0 {source="Orphanet:34516/attributed", source="Orphanet:34516/ntbt", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517"} xref: MESH:C566370 {source="MONDO:equivalentTo"} xref: OMIM:603511 {source="Orphanet:34516", source="MONDO:equivalentTo", source="Orphanet:34516/e", source="https://orcid.org/0000-0002-6601-2165"} @@ -395124,6 +413789,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021019 name: X-linked recessive ocular albinism def: "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." [Orphanet:54] +subset: gard_rare {source="GARD:8471"} subset: ordo_disease {source="Orphanet:54"} synonym: "albinism, ocular, type 1" RELATED [OMIM:300500] synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical, OMIM:300500] @@ -395135,6 +413801,7 @@ synonym: "ocular albinism, Nettleship-Falls type" EXACT [Orphanet:54] synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [OMIM:300500, OMIM:genemap2] synonym: "X-linked ocular albinism" RELATED [GARD:0008471] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] +xref: GARD:8471 {source="Orphanet:54"} xref: ICD10CM:E70.3 {source="Orphanet:54/attributed", source="Orphanet:54/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537863 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} @@ -395154,7 +413821,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021020 name: Crigler-Najjar syndrome type 1 def: "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." [Orphanet:79234] -subset: gard_rare {source="GARD:0000047"} +subset: gard_rare {source="GARD:47"} subset: ordo_clinical_subtype {source="Orphanet:79234"} synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [Orphanet:79234] synonym: "bilirubin-UGT deficiency type 1" EXACT [Orphanet:79234] @@ -395164,6 +413831,7 @@ synonym: "Crigler-Najjar syndrome, type I" EXACT [OMIM:218800] synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:79234] synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800] synonym: "UGT deficiency type 1" EXACT [Orphanet:79234] +xref: GARD:47 {source="Orphanet:79234"} xref: ICD10CM:E80.5 {source="Orphanet:205", source="Orphanet:79234/attributed", source="Orphanet:79234/ntbt", source="DOID:3803", source="Orphanet:79234"} xref: MedDRA:10057034 {source="Orphanet:79234/e", source="Orphanet:79234"} xref: MESH:C536212 {source="Orphanet:79234/e", source="Orphanet:79234"} @@ -395180,12 +413848,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/47/crigler-n [Term] id: MONDO:0021021 name: craniodiaphyseal dysplasia, autosomal dominant +subset: gard_rare {source="GARD:249"} synonym: "CDD" EXACT ABBREVIATION [OMIM:122860] synonym: "craniodiaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:122860] synonym: "craniodiaphyseal dysplasia, dominant" RELATED [GARD:0000249] synonym: "dominantly inherited craniodiaphyseal dysplasia" RELATED [GARD:0000249] synonym: "Schaefer Stein Oshman syndrome" RELATED [GARD:0000249] xref: DOID:0080807 {source="MONDO:equivalentTo"} +xref: GARD:249 {source="OMIM:122860"} xref: MESH:C567275 {source="MONDO:equivalentTo"} xref: OMIM:122860 {source="MONDO:equivalentTo", source="Orphanet:1513"} xref: UMLS:C2675746 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -395197,6 +413867,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021022 name: hereditary hyperekplexia def: "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." [Orphanet:3197] +subset: gard_rare {source="GARD:3129"} subset: ordo_disease {source="Orphanet:3197"} synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, Orphanet:3197] synonym: "familial startle disease" EXACT [DOID:0060695, Orphanet:3197] @@ -395208,6 +413879,7 @@ synonym: "Kok disease" EXACT [DOID:0060695, Orphanet:3197] synonym: "startle disease" EXACT [DOID:0060695] synonym: "Stiff baby syndrome" EXACT [Orphanet:3197] xref: DOID:0060695 {source="MONDO:equivalentTo"} +xref: GARD:3129 {source="Orphanet:3197"} xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:3197/attributed", source="Orphanet:3197/ntbt", source="Orphanet:306773", source="Orphanet:3197"} xref: OMIMPS:149400 {source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"} @@ -395225,12 +413897,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:149400"} ! inheri id: MONDO:0021023 name: complete androgen insensitivity syndrome def: "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." [Orphanet:99429] -subset: gard_rare {source="GARD:0010597"} +subset: gard_rare {source="GARD:10597"} subset: ordo_disease {source="Orphanet:99429"} synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597] synonym: "CAIS" EXACT ABBREVIATION [Orphanet:99429] synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429] xref: DOID:0080775 {source="MONDO:equivalentTo"} +xref: GARD:10597 {source="Orphanet:99429"} xref: ICD10CM:E34.5 {source="Orphanet:99429/attributed", source="Orphanet:99429/ntbt"} xref: ICD10CM:E34.51 {source="MONDO:equivalentTo"} xref: NCIT:C120191 {source="MONDO:equivalentTo"} @@ -395273,7 +413946,9 @@ is_a: MONDO:0007329 {source="https://orcid.org/0000-0001-5208-3432"} ! cirrhosis id: MONDO:0021026 name: hereditary epidermal appendage anomaly def: "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20265"} synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic] +xref: GARD:20265 {source="Orphanet:183447"} xref: Orphanet:183447 {source="MONDO:0021027", source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:Redundant", source="Orphanet:183447"} ! skin disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare @@ -395282,7 +413957,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare id: MONDO:0021027 name: obsolete genetic hair anomaly def: "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20266"} synonym: "genetic hair anomaly" EXACT [MONDO:patterns/genetic] +xref: GARD:20266 {source="MONDO:obsoleteEquivalent", source="Orphanet:183450"} xref: Orphanet:183450 {source="MONDO:0021027", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -395293,7 +413970,9 @@ consider: MONDO:0019278 id: MONDO:0021028 name: obsolete genetic nail anomaly def: "OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20267"} synonym: "genetic nail anomaly" EXACT [MONDO:patterns/genetic] +xref: GARD:20267 {source="MONDO:obsoleteEquivalent", source="Orphanet:183454"} xref: Orphanet:183454 {source="MONDO:0021028", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -395304,7 +413983,9 @@ consider: MONDO:0019283 id: MONDO:0021029 name: hereditary sebaceous gland anomaly def: "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:20268"} synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic] +xref: GARD:20268 {source="Orphanet:183460"} xref: Orphanet:183460 {source="MONDO:0021029", source="MONDO:equivalentTo"} is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183460"} ! hereditary epidermal appendage anomaly @@ -395341,7 +414022,9 @@ intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious id: MONDO:0021034 name: obsolete hereditary alopecia def: "OBSOLETE. An instance of alopecia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +subset: gard_rare {source="GARD:21987"} synonym: "genetic alopecia" EXACT [MONDO:patterns/genetic] +xref: GARD:21987 {source="MONDO:obsoleteEquivalent", source="Orphanet:481771"} xref: Orphanet:481771 {source="MONDO:obsoleteEquivalent", source="MONDO:0021034"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -395376,7 +414059,9 @@ id: MONDO:0021037 name: obsolete genetic neurodegenerative disease with dementia def: "OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] comment: Dementia should be a feature, not a superclass. +subset: gard_rare {source="GARD:21039"} synonym: "genetic neurodegenerative disease with dementia" EXACT [MONDO:patterns/genetic] +xref: GARD:21039 {source="MONDO:obsoleteEquivalent", source="Orphanet:276058"} xref: Orphanet:276058 {source="MONDO:0021037", source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202589 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI @@ -395492,6 +414177,7 @@ intersection_of: disease_has_location UBERON:0000977 ! pleura id: MONDO:0021042 name: glioma def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059] +subset: gard_rare {source="GARD:6513"} synonym: "glial neoplasm" EXACT [NCIT:C3059] synonym: "glial tumor" EXACT [NCIT:C3059] synonym: "glial tumour" EXACT OMO:0003005 [] @@ -395505,6 +414191,7 @@ synonym: "tumor of neuroglia" EXACT [NCIT:C3059] synonym: "tumor of the neuroglia" EXACT [NCIT:C3059] synonym: "tumour of neuroglia" EXACT OMO:0003005 [] synonym: "tumour of the neuroglia" EXACT OMO:0003005 [] +xref: GARD:6513 {source="Orphanet:182067"} xref: MESH:D005910 {source="MONDO:equivalentTo"} xref: NCIT:C3059 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="https://github.com/monarch-initiative/mondo/issues/2932", source="MONDO:equivalentTo"} @@ -395730,6 +414417,7 @@ id: MONDO:0021054 name: bone sarcoma def: "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." [NCIT:C9312] subset: disease_grouping +subset: gard_rare {source="GARD:20547"} subset: ordo_group_of_disorders {source="Orphanet:223727"} synonym: "bone sarcoma" EXACT [MONDO:0016388, NCIT:C9312] synonym: "osseous sarcoma" EXACT [NCIT:C9312] @@ -395737,6 +414425,7 @@ synonym: "sarcoma of bone" EXACT [NCIT:C9312] synonym: "sarcoma of the bone" EXACT [NCIT:C9312] synonym: "skeletal sarcoma" EXACT [NCIT:C9312] xref: DOID:0080639 {source="MONDO:equivalentTo"} +xref: GARD:20547 {source="Orphanet:223727"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10006007 {source="Orphanet:223727/e", source="Orphanet:223727"} xref: NCIT:C9312 {source="MONDO:equivalentTo"} @@ -395755,6 +414444,7 @@ intersection_of: disease_has_location UBERON:0001474 {source="NCIT:C9312"} ! bon id: MONDO:0021055 name: classic familial adenomatous polyposis def: "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." [Orphanet:733] +subset: gard_rare {source="GARD:6408"} subset: ordo_disease {source="Orphanet:733"} synonym: "adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "adenomatous polyposis of the colon" EXACT [DOID:0050424] @@ -395776,6 +414466,7 @@ synonym: "hereditary polyposis coli" RELATED [GARD:0006408] synonym: "polyposis coli" EXACT [NCIT:C3339] xref: DECIPHER:49 {source="MONDO:equivalentTo"} xref: DOID:0050424 {source="MONDO:equivalentTo"} +xref: GARD:6408 {source="Orphanet:733"} xref: ICD10CM:D12.6 {source="Orphanet:733", source="Orphanet:733/attributed", source="Orphanet:733/ntbt"} xref: ICDO:8220/0 {source="NCIT:C3339"} xref: MedDRA:10056981 {source="Orphanet:733", source="Orphanet:733/e"} @@ -395881,12 +414572,14 @@ id: MONDO:0021060 name: RASopathy def: "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [Wikipedia:RASopathy] subset: disease_grouping +subset: gard_rare {source="GARD:22213"} subset: ordo_group_of_disorders synonym: "disorder of Ras protein signal transduction" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern] synonym: "RASopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0080690 {source="MONDO:equivalentTo"} xref: EFO:1001502 {source="MONDO:equivalentTo"} +xref: GARD:22213 {source="Orphanet:536391"} xref: NCIT:C179667 {xref="MONDO:equivalentTo"} xref: Orphanet:536391 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/606"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! hereditary disease @@ -395986,7 +414679,6 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0021064 name: jugulotympanic paraganglioma def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." [NCIT:C3061] -subset: gard_rare synonym: "basicranium parasympathetic paraganglioma" EXACT [MONDO:patterns/location] synonym: "glomus jugulare neoplasm" EXACT [NCIT:C3061] synonym: "glomus jugulare tumor" EXACT [NCIT:C3061] @@ -396384,10 +415076,12 @@ relationship: disease_arises_from_structure UBERON:0004638 {source="NCIT:C7387"} id: MONDO:0021081 name: anti-NMDA receptor encephalitis def: "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." [NCIT:C94853] +subset: gard_rare {source="GARD:20513"} subset: ordo_disease {source="Orphanet:217253"} synonym: "anti-NMDA receptor encephalitis" EXACT [NCIT:C94853] synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXACT [Orphanet:217253] synonym: "limbic encephalitis with NMDA receptor antibodies" EXACT [MONDO:0016317] +xref: GARD:20513 {source="Orphanet:217253"} xref: ICD10CM:G13.1 {source="Orphanet:217253/ntbt", source="Orphanet:217253"} xref: MESH:D060426 {source="MONDO:equivalentTo"} xref: NCIT:C94853 {source="MONDO:equivalentTo"} @@ -396817,6 +415511,7 @@ intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix id: MONDO:0021102 name: prostate phyllodes tumor def: "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma." [NCIT:C7574] +subset: gard_rare {source="GARD:9404"} subset: ordo_disease synonym: "cystosarcoma phyllodes of prostate" EXACT [NCIT:C7574] synonym: "cystosarcoma phyllodes of the prostate" EXACT [NCIT:C7574, Orphanet:498228] @@ -396833,6 +415528,7 @@ synonym: "prostate gland phyllodes tumor" EXACT [MONDO:patterns/location] synonym: "prostate gland phyllodes tumour" EXACT OMO:0003005 [] synonym: "prostate phyllodes neoplasm" EXACT [NCIT:C7574] synonym: "prostate phyllodes tumor" EXACT [NCIT:C7574] +xref: GARD:9404 {source="Orphanet:498228"} xref: NCIT:C7574 {source="MONDO:equivalentTo"} xref: Orphanet:498228 {source="MONDO:equivalentTo"} xref: UMLS:C1335409 {source="NCIT:C7574", source="MONDO:equivalentTo"} @@ -396894,7 +415590,9 @@ id: MONDO:0021106 name: laminopathy def: "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." [Wikipedia:Laminopathy] subset: disease_grouping +subset: gard_rare {source="GARD:19444"} subset: ordo_group_of_disorders +xref: GARD:19444 {source="Orphanet:98301"} xref: MESH:D000083083 {source="MONDO:equivalentTo"} xref: Orphanet:98301 {source="MONDO:equivalentTo"} xref: UMLS:CN236383 {source="MONDO:equivalentTo"} @@ -396906,11 +415604,13 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0005652 ! nuclear lamina id: MONDO:0021107 name: narcolepsy def: "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." [NCIT:C84489] +subset: gard_rare {source="GARD:22460"} synonym: "narcolepsy" EXACT [NCIT:C84489] synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986] synonym: "paroxysmal sleep" EXACT [DOID:8986] xref: DOID:8986 {source="MONDO:equivalentTo"} xref: EFO:0000614 {source="DOID:8986"} +xref: GARD:22460 {source="Orphanet:619284"} xref: ICD9:347.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: NCIT:C84489 {source="MONDO:equivalentTo"} @@ -397386,9 +416086,11 @@ relationship: disease_arises_from_feature MONDO:0006964 ! secondary hyperparathy id: MONDO:0021133 name: acquired factor XIII deficiency def: "An acquired coagulation disorder due to reduced levels and activity of factor XIII." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1484527/, MONDO:cjm] +subset: gard_rare {source="GARD:22412"} subset: ordo_disorder synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired] synonym: "aFXIII" EXACT ABBREVIATION [Orphanet:599513] +xref: GARD:22412 {source="Orphanet:599513"} xref: NCIT:C131629 {source="MONDO:equivalentTo"} xref: Orphanet:599513 {source="MONDO:equivalentTo"} xref: UMLS:C0238120 {source="MONDO:equivalentTo", source="NCIT:C131629"} @@ -397401,9 +416103,11 @@ relationship: excluded_subClassOf MONDO:0018029 {source="NCIT:C131629"} ! congen id: MONDO:0021134 name: acquired factor X deficiency def: "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." [] +subset: gard_rare {source="GARD:22410"} subset: ordo_disorder synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired] synonym: "aFX" EXACT ABBREVIATION [Orphanet:599501] +xref: GARD:22410 {source="Orphanet:599501"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C131626 {source="MONDO:equivalentTo"} xref: Orphanet:599501 {source="MONDO:equivalentTo"} @@ -397642,6 +416346,7 @@ id: MONDO:0021154 name: dermis disorder def: "A disease that involves the dermis." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:19010"} subset: ordo_group_of_disorders {source="Orphanet:79381"} synonym: "dermis disease" EXACT [MONDO:patterns/location] synonym: "dermis disease or disorder" EXACT [MONDO:patterns/location] @@ -397649,6 +416354,7 @@ synonym: "disease of dermis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of dermis" EXACT [] synonym: "disorder of dermis" EXACT [MONDO:patterns/location_top] synonym: "other dermis disorder" EXACT [MONDO:0019295] +xref: GARD:19010 {source="Orphanet:79381"} xref: Orphanet:79381 {source="MONDO:equivalentTo"} xref: UMLS:CN227618 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="https://orcid.org/0000-0002-4071-8397"} ! skin disorder @@ -397916,7 +416622,6 @@ is_a: MONDO:0006500 {source="DOID:474", source="NCIT:C4298"} ! hemangioma [Term] id: MONDO:0021170 name: obsolete amyotonia congenita -subset: gard_rare synonym: "amyotonia congenita" RELATED [OMIM:205000] synonym: "Oppenheim disease" RELATED [GARD:0005798, OMIM:205000] synonym: "Oppenheim's disease" RELATED [GARD:0005798] @@ -397937,11 +416642,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021172 name: Timothy syndrome, atypical type def: "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." [https://ghr.nlm.nih.gov/condition/timothy-syndrome] +subset: gard_rare {source="GARD:22382"} subset: ordo_subtype_of_a_disorder synonym: "ATS" EXACT ABBREVIATION [Orphanet:595109] synonym: "Atypical LQT8" EXACT [Orphanet:595109] synonym: "atypical Timothy syndrome" EXACT [Orphanet:595109] synonym: "Timothy syndrome type 2 (disorder)" EXACT [SCTID:719907006] +xref: GARD:22382 {source="Orphanet:595109"} xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595109"} xref: Orphanet:595109 {source="MONDO:equivalentTo"} xref: SCTID:719907006 {source="MONDO:equivalentTo"} @@ -397970,8 +416677,10 @@ intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious id: MONDO:0021176 name: autoimmune hepatitis type 2 def: "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/] +subset: gard_rare {source="GARD:22252"} synonym: "autoimmune hepatitis type 2" EXACT [] synonym: "type 2 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] +xref: GARD:22252 {source="Orphanet:563581"} xref: Orphanet:563581 {source="MONDO:equivalentTo"} xref: SCTID:721712002 {source="MONDO:equivalentTo"} xref: UMLS:C4303163 {source="MONDO:equivalentTo"} @@ -398072,6 +416781,7 @@ id: MONDO:0021181 name: inherited blood coagulation disorder def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." [MESH:D025861] subset: disease_grouping +subset: gard_rare {source="GARD:20319"} subset: ordo_group_of_disorders {source="Orphanet:183654"} synonym: "coagulation disorder, hereditary" EXACT [MESH:D025861] synonym: "coagulation disorder, inherited" EXACT [MESH:D025861] @@ -398087,6 +416797,7 @@ synonym: "inherited coagulation disorder" EXACT [MESH:D025861] synonym: "inherited coagulation disorders" EXACT [MESH:D025861] synonym: "rare genetic coagulation disorder" EXACT [Orphanet:98429] xref: DOID:2214 {source="MONDO:equivalentObsolete"} +xref: GARD:20319 {source="Orphanet:183654"} xref: MESH:D025861 {source="MONDO:equivalentTo", source="DOID:2214"} xref: Orphanet:183654 {source="MONDO:equivalentTo"} xref: Orphanet:98429 {source="DOID:2214"} @@ -398322,6 +417033,8 @@ is_obsolete: true [Term] id: MONDO:0021198 name: obsolete rare genetic disease +subset: gard_rare {source="GARD:22531"} +xref: GARD:22531 {source="MONDO:obsoleteEquivalent", source="Orphanet:98053"} xref: Orphanet:98053 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206953 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -398465,7 +417178,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0009755 ! hormone-mediate id: MONDO:0021209 name: heart neoplasm def: "A neoplasm (disease) that involves the heart." [MONDO:patterns/location] -subset: gard_rare synonym: "Cardiac neoplasm" EXACT [NCIT:C3081] synonym: "Cardiac neoplasms" EXACT [NCIT:C3081] synonym: "Cardiac tumor" EXACT [NCIT:C3081] @@ -398760,6 +417472,7 @@ id: MONDO:0021227 name: adrenal gland neoplasm def: "A neoplasm (disease) that involves the adrenal gland." [MONDO:patterns/location] subset: disease_grouping +subset: gard_rare {source="GARD:19765"} subset: ordo_group_of_disorders {source="Orphanet:100091"} synonym: "adrenal gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adrenal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] @@ -398778,6 +417491,7 @@ synonym: "tumor of the adrenal gland" EXACT [NCIT:C2859] synonym: "tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "tumour of the adrenal gland" EXACT OMO:0003005 [] xref: EFO:0003850 {source="MONDO:equivalentTo"} +xref: GARD:19765 {source="Orphanet:100091"} xref: NCIT:C12666 {source="ONCOTREE:ADRENALGLAND"} xref: NCIT:C2859 {source="MONDO:equivalentTo"} xref: ONCOTREE:ADRENALGLAND {source="MONDO:equivalentTo"} @@ -399533,6 +418247,8 @@ intersection_of: disease_has_location UBERON:0001155 ! colon [Term] id: MONDO:0021272 name: inherited orthostatic hypotension +subset: gard_rare {source="GARD:21878"} +xref: GARD:21878 {source="Orphanet:448426"} xref: OMIMPS:223360 {source="MONDO:equivalentTo"} xref: Orphanet:448426 {source="MONDO:equivalentTo"} is_a: MONDO:0015914 {source="MONDO:cjm"} ! primary orthostatic hypotension @@ -401594,12 +420310,14 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0021427 name: squamous cell carcinoma of lip def: "A squamous cell carcinoma that involves the lip." [MONDO:patterns/location] +subset: gard_rare {source="GARD:17933"} subset: ordo_disease synonym: "lip scc" EXACT [NCIT:C4042] synonym: "lip squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4042] synonym: "scc of Lip" EXACT [NCIT:C4042] synonym: "scc of the Lip" EXACT [NCIT:C4042] synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042] +xref: GARD:17933 {source="Orphanet:502366"} xref: NCIT:C4042 {source="MONDO:equivalentTo"} xref: Orphanet:502366 {source="MONDO:equivalentTo"} xref: SCTID:255071008 {source="MONDO:equivalentTo"} @@ -404087,10 +422805,12 @@ intersection_of: disease_has_location UBERON:0002240 ! spinal cord [Term] id: MONDO:0021547 name: amelogenesis imperfecta type 3B +subset: gard_rare {source="GARD:18258"} synonym: "AI3B" EXACT ABBREVIATION [OMIM:617607] synonym: "amelogenesis imperfecta, type 3B" EXACT [OMIM:617607] synonym: "amelogenesis imperfecta, type IIIB" EXACT [OMIM:617607] xref: DOID:0080243 {source="MONDO:equivalentTo"} +xref: GARD:18258 {source="OMIM:617607"} xref: OMIM:617607 {source="DOID:0080243", source="MONDO:equivalentTo"} xref: Orphanet:100032 {source="OMIM:617607"} xref: UMLS:CN373594 {source="MONDO:equivalentTo"} @@ -404099,10 +422819,12 @@ is_a: MONDO:0019507 {source="DOID:0080243", source="MONDO:Redundant", source="OM [Term] id: MONDO:0021548 name: total early-onset cataract +subset: gard_rare {source="GARD:1159"} subset: ordo_clinical_subtype {source="Orphanet:98994"} synonym: "cataract, total congenital" RELATED [GARD:0001159] synonym: "cataract, total congenital with posterior sutural opacities in heterozygotes" RELATED [GARD:0001159] synonym: "CCT" RELATED ABBREVIATION [GARD:0001159] +xref: GARD:1159 {source="Orphanet:98994"} xref: ICD10CM:Q12.0 {source="Orphanet:98994", source="Orphanet:98994/attributed", source="Orphanet:98994/ntbt"} xref: MESH:C535341 {source="Orphanet:98994", source="Orphanet:98994/e"} xref: Orphanet:91492 {source="OMIM:116700"} @@ -404113,7 +422835,6 @@ is_a: MONDO:0011060 {source="Orphanet:98994"} ! early-onset non-syndromic catara [Term] id: MONDO:0021553 name: transverse myelitis -subset: gard_rare synonym: "Myelitis, Transverse" RELATED [MESH:D009188] synonym: "Transverse Myelitis" RELATED [MESH:D009188] synonym: "Transverse myelitis" RELATED [UMLS:C0026976] @@ -404185,7 +422906,7 @@ intersection_of: disease_has_location UBERON:0009773 ! renal tubule id: MONDO:0021569 name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant def: "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." [NCIT:C126745] -subset: gard_rare +subset: gard_rare {source="GARD:10230"} subset: ordo_disease {source="Orphanet:264"} synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [OMIM:159001] @@ -404207,6 +422928,7 @@ synonym: "proximal muscular dystrophy type 1B" EXACT [DOID:0110301] synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350] xref: DOID:0070247 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110301 {source="MONDO:equivalentObsolete"} +xref: GARD:10230 {source="OMIM:181350"} xref: ICD10CM:G71.0 {source="Orphanet:264/inclusion", source="Orphanet:264/ntbt", source="Orphanet:264", source="DOID:0110301"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535898 {source="MONDO:equivalentTo"} @@ -404266,10 +422988,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021573 name: oocyte maturation defect 2 def: "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18496"} synonym: "inherited oocyte maturation defect caused by mutation in TUBB8" EXACT [MONDO:design_pattern] synonym: "oocyte maturation defect 2" EXACT [MONDO:Lexical, OMIM:616780] synonym: "OOMD2" EXACT ABBREVIATION [OMIM:616780] synonym: "TUBB8 inherited oocyte maturation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18496 {source="OMIM:616780"} xref: OMIM:616780 {source="MONDO:equivalentTo"} xref: Orphanet:488191 {source="MONDO:relatedTo", source="OMIM:616780"} xref: UMLS:C4225210 {source="MONDO:equivalentTo", source="OMIM:616780"} @@ -404290,8 +423014,10 @@ is_a: MONDO:0014769 {source="OMIM:617712"} ! inherited oocyte maturation defect [Term] id: MONDO:0021575 name: oocyte maturation defect 4 +subset: gard_rare {source="GARD:18497"} synonym: "oocyte maturation defect 4" EXACT [MONDO:Lexical, OMIM:617743] synonym: "OOMD4" EXACT ABBREVIATION [OMIM:617743] +xref: GARD:18497 {source="OMIM:617743"} xref: OMIM:617743 {source="MONDO:equivalentTo"} xref: Orphanet:488191 {source="OMIM:617743", source="MONDO:relatedTo"} xref: UMLS:CN562785 {source="MONDO:equivalentTo"} @@ -404634,6 +423360,7 @@ name: astrocytic tumor def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C6958] comment: This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 subset: disease_grouping +subset: gard_rare {source="GARD:12928"} subset: ordo_group_of_disorders {source="Orphanet:94"} synonym: "astrocytic neoplasm" EXACT [NCIT:C6958] synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94] @@ -404645,6 +423372,7 @@ synonym: "astroglioma" EXACT [DOID:3069, NCIT:C6958] synonym: "cerebral astrocytoma" RELATED EXCLUDE [DOID:3069] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: EFO:0000272 {source="MONDO:equivalentTo"} +xref: GARD:12928 {source="Orphanet:94"} xref: MedDRA:10003571 {source="Orphanet:94/e", source="Orphanet:94"} xref: MESH:D001254 {source="DOID:3069", source="Orphanet:94/e", source="Orphanet:94"} xref: NCIT:C4951 {source="DOID:3069"} @@ -404804,12 +423532,13 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0021651 name: synpolydactyly def: "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." [https://en.wikipedia.org/wiki/Synpolydactyly] -subset: gard_rare +subset: gard_rare {source="GARD:5087"} subset: ordo_morphological_anomaly {source="Orphanet:93403"} synonym: "polysyndactyly" EXACT [SCTID:84598000, UMLS:C0265553] synonym: "SPD" RELATED ABBREVIATION [GARD:0005087] synonym: "syndactyly type 2" EXACT [MONDO:0019683] synonym: "synpolydactyly" EXACT [NCIT:C75003, Orphanet:93403] +xref: GARD:5087 {source="Orphanet:93403"} xref: ICD10CM:Q70.0 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"} xref: MESH:C538153 {source="MONDO:equivalentTo", source="Orphanet:93403", source="Orphanet:93403/e"} @@ -404927,7 +423656,6 @@ is_a: MONDO:0005385 {source="NCIT:C45481/inferred"} ! vascular disorder id: MONDO:0021659 name: combined carcinoid and adenocarcinoma def: "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." [NCIT:C4139] -subset: gard_rare synonym: "adenocarcinoid neoplasm" EXACT [NCIT:C4139] synonym: "adenocarcinoid tumor" EXACT [NCIT:C4139] synonym: "adenocarcinoid tumour" EXACT OMO:0003005 [] @@ -404953,10 +423681,12 @@ is_a: MONDO:0004993 {source="MESH:C538230/inferred", source="NCIT:C4139"} ! carc id: MONDO:0021660 name: deep seated dermatophytosis def: "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." [NCIT:C35073] +subset: gard_rare {source="GARD:21631"} subset: ordo_disease {source="Orphanet:397587"} synonym: "deep dermatophytosis" EXACT [MONDO:0018335] synonym: "deep seated dermatophytosis" EXACT [NCIT:C35073] synonym: "disseminated granulomatous dermatophytosis" EXACT [Orphanet:397587] +xref: GARD:21631 {source="Orphanet:397587"} xref: ICD10CM:B35.8 {source="Orphanet:397587/ntbt", source="Orphanet:397587"} xref: NCIT:C35073 {source="MONDO:equivalentTo"} xref: Orphanet:397587 {source="MONDO:equivalentTo"} @@ -405270,6 +424000,8 @@ replaced_by: MONDO:0024619 id: MONDO:0021690 name: obsolete congenital left ventricular aneurysm def: "OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]" [Orphanet:1055] +subset: gard_rare {source="GARD:2305"} +xref: GARD:2305 {source="Orphanet:1055", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:1055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -405452,7 +424184,6 @@ replaced_by: MONDO:0100151 id: MONDO:0021726 name: abdominal cystic lymphangioma def: "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.." [GARD:0000439] -subset: gard_rare synonym: "abdomen cystic lymphangioma" EXACT [MONDO:patterns/location] synonym: "abdominal retroperitoneal lymphangioma" RELATED [GARD:0000439, MESH:C535553] synonym: "RCL" RELATED ABBREVIATION [GARD:0000439] @@ -405468,7 +424199,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/439/abdomina id: MONDO:0021727 name: aberrant subclavian artery def: "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." [GARD:0005706] -subset: gard_rare synonym: "aberrant left subclavian artery" NARROW [GARD:0005706, MESH:C535555] synonym: "aberrant right subclavian artery" NARROW [GARD:0005706, MESH:C535555] synonym: "aberrant subclavian artery" EXACT [] @@ -405535,7 +424265,6 @@ intersection_of: MONDO:0044013 ! puerperal disorder id: MONDO:0021745 name: psychosocial short stature def: "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." [Wikipedia:Psychosocial_short_stature] -subset: gard_rare synonym: "abuse dwarfism syndrome" RELATED [GARD:0009440] synonym: "child abuse dwarfism" RELATED [GARD:0009440, MESH:C535569] synonym: "Kaspar Hauser syndrome" RELATED [Wikipedia:Psychosocial_short_stature] @@ -405593,7 +424322,6 @@ is_a: MONDO:0005240 {source="UMLS:C0034216"} ! kidney disorder id: MONDO:0021752 name: Achard-Thiers syndrome def: "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" [https://rarediseases.org/rare-diseases/achard-thiers-syndrome/, ISBN-13:978-0-7817-3063-1] -subset: gard_rare synonym: "Achard Thiers syndrome" RELATED [GARD:0005709] synonym: "diabetes in bearded women" RELATED [GARD:0005709] synonym: "diabetic-bearded woman syndrome" RELATED [GARD:0005709] @@ -405609,7 +424337,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5709/achard- id: MONDO:0021758 name: acquired agranulocytosis def: "Agranulocytosis that is autoimmune in origin." [https://orcid.org/0000-0001-5208-3432, PMID:443260] -subset: gard_rare synonym: "agranulocytic angina" RELATED [MESH:C538171] synonym: "agranulocytosis, acquired" RELATED [GARD:0005717] synonym: "granulocytopenia, primary" RELATED [MESH:C538171] @@ -405624,7 +424351,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5717/acquire id: MONDO:0021759 name: acquired fructose intolerance def: "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." [GARD:0002399] -subset: gard_rare synonym: "acquired fructose intolerance" EXACT [] synonym: "dietary fructose intolerance" RELATED [GARD:0002399] synonym: "fructose malabsorption" RELATED [GARD:0002399] @@ -405638,7 +424364,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2399/acquire id: MONDO:0021761 name: acral dysostosis dyserythropoiesis syndrome def: "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." [https://orcid.org/0000-0001-5208-3432, PMID:7641772] -subset: gard_rare is_a: MONDO:0002254 ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome" xsd:anyURI {source="GARD:0000478"} @@ -405646,7 +424371,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/478/acral-dy id: MONDO:0021762 name: acrocoxomesomelic dysplasia def: "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." [PMID:6331794] -subset: gard_rare synonym: "acro-coxo-mesomelic dwarfism" EXACT [PMID:6331794] is_a: MONDO:0018230 ! skeletal dysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia" xsd:anyURI {source="GARD:0000483"} @@ -405655,7 +424379,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/483/acro-cox id: MONDO:0021764 name: acrofacial dysostosis Preis type def: "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:7625437] -subset: gard_rare subset: n_of_one is_a: MONDO:0018237 {source="https://orcid.org/0000-0001-5208-3432"} ! acrofacial dysostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type" xsd:anyURI {source="GARD:0000495"} @@ -405738,7 +424461,6 @@ intersection_of: MONDO:0018076 ! tuberculosis [Term] id: MONDO:0021805 name: acromesomelic dysplasia, Campailla Martinelli type -subset: gard_rare synonym: "acromesomelic dysplasia Campailla Martinelli type" RELATED [MESH:C535659] synonym: "mesomelic dwarfism Campailla-Martinelli type" RELATED [GARD:0000505, MESH:C535659] xref: MESH:C535659 {source="MONDO:equivalentTo"} @@ -405751,7 +424473,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/505/acromeso id: MONDO:0021808 name: acute cholinergic dysautonomia def: "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset." [https://orcid.org/0000-0001-5208-3432, PMID:8194274] -subset: gard_rare synonym: "ACD" RELATED ABBREVIATION [GARD:0009394] xref: MESH:C535672 {source="MONDO:equivalentTo"} xref: UMLS:C2930973 {source="MONDO:equivalentTo"} @@ -405776,7 +424497,6 @@ is_a: MONDO:0044872 {source="https://orcid.org/0000-0001-5208-3432"} ! dysautono id: MONDO:0021811 name: acute mountain sickness def: "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances." [https://orcid.org/0000-0001-5208-3432, PMID:11450659] -subset: gard_rare synonym: "acosta's disease" RELATED [] synonym: "acute mountain sickness" EXACT [] synonym: "altitude anoxia" RELATED [GARD:0005730] @@ -405799,7 +424519,6 @@ id: MONDO:0021812 name: adnexal spiradenoma/cylindroma of a sweat gland def: "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." [NCIT:C27094] comment: Editor note: See GARD:0010464 -subset: gard_rare synonym: "adnexal sweat gland spiradenoma/cylindroma" RELATED [GARD:0008641] synonym: "cylindroma" EXACT [NCIT:C27094] synonym: "cylindroma of skin" EXACT [NCIT:C27094] @@ -405816,7 +424535,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8641/adnexal id: MONDO:0021824 name: adult progressive spinal muscular atrophy, Aran Duchenne type def: "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." [https://orcid.org/0000-0001-5208-3432, PMID:18299524] -subset: gard_rare synonym: "adult progressive spinal muscular atrophy Aran Duchenne type" RELATED [GARD:0009132] synonym: "adult SMA Aran Duchenne type" RELATED [GARD:0009132] synonym: "Aran Duchenne spinal muscular atrophy" RELATED [GARD:0009132] @@ -405828,7 +424546,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9132/adult-p id: MONDO:0021826 name: aerobic Actinomyces infection def: "Infection with the less common aerobic antinomyces bacteria." [https://orcid.org/0000-0001-5208-3432, PMID:14875224] -subset: gard_rare xref: MESH:C538054 {source="MONDO:equivalentTo"} xref: UMLS:C2931717 {source="GARD:0009779", source="MONDO:equivalentTo"} is_a: MONDO:0005631 {source="MESH:C538054"} ! actinomycosis @@ -405837,7 +424554,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9779/aerobic [Term] id: MONDO:0021829 name: agnathia-microstomia-synotia -subset: gard_rare synonym: "agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" RELATED [GARD:0010125, MESH:C538059] synonym: "Plurimalformative syndrome" RELATED [GARD:0010125, MESH:C538059] xref: MESH:C538059 {source="MONDO:equivalentTo"} @@ -405849,7 +424565,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10125/agnath id: MONDO:0021834 name: Akaba Hayasaka syndrome def: "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." [https://orcid.org/0000-0001-5208-3432, PMID:8989469] -subset: gard_rare synonym: "frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia" RELATED [GARD:0000577] xref: MESH:C535609 {source="MONDO:equivalentTo"} xref: UMLS:C2930948 {source="MONDO:equivalentTo", source="GARD:0000577"} @@ -405860,7 +424575,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/577/akaba-ha id: MONDO:0021836 name: Aksu von Stockhausen syndrome def: "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:6468450] -subset: gard_rare subset: n_of_one synonym: "aksu von stockhausen syndrome" EXACT [MONDO:0022406] synonym: "hereditary branchial arch defects" RELATED [GARD:0000579, MESH:C535611] @@ -405873,7 +424587,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/579/aksu-von id: MONDO:0021838 name: Al Gazali Khidr Prem Chandran syndrome def: "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:8281276] -subset: gard_rare subset: n_of_one synonym: "cherubism, optic atrophy and short stature" RELATED [GARD:0000586, MESH:C535616] xref: MESH:C535616 {source="MONDO:equivalentTo"} @@ -405886,7 +424599,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/586/al-gazal id: MONDO:0021839 name: spirochaetales infections def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145] -subset: gard_rare synonym: "INFECT SPIROCHAETALES" RELATED [MESH:D013145] synonym: "INFECT SPIROCHETE" RELATED [MESH:D013145] synonym: "Infection, Spirochaetales" RELATED [MESH:D013145] @@ -405915,7 +424627,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0007682"} ! rare id: MONDO:0021845 name: Aloi Tomasini Isaia syndrome def: "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:2715453] -subset: gard_rare subset: n_of_one synonym: "basal cell nevus anodontia abnormal bone mineralization" EXACT [MONDO:0022546] synonym: "basal cell nevus, anodontia, abnormal bone mineralization" RELATED [GARD:0000417, MESH:C537049] @@ -405931,7 +424642,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/417/aloi-tom id: MONDO:0021849 name: obsolete alopecia macular degeneration growth retardation syndrome comment: Reason: out of scope, MONDO:excludeHistoricalDisease. Obsoleted in Orphanet. Term to consider: MONDO:0009155 EEM syndrome -subset: gard_rare synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125] synonym: "alopecia, macular degeneration, and growth retardation" RELATED [MESH:C538125] xref: DOID:0111649 {source="MONDO:relatedTo"} @@ -405947,7 +424657,6 @@ consider: MONDO:0009155 id: MONDO:0021851 name: alopecia universalis onychodystrophy vitiligo def: "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." [https://orcid.org/0000-0001-5208-3432, PMID:14043609] -subset: gard_rare synonym: "alopecia universalis, onychodystrophy, and total vitiligo" RELATED [GARD:0000615, MESH:C537056] xref: MESH:C537056 {source="MONDO:equivalentTo"} xref: UMLS:C2931408 {source="MONDO:equivalentTo", source="GARD:0000615"} @@ -405959,7 +424668,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/615/alopecia id: MONDO:0021856 name: Alsing syndrome def: "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." [https://orcid.org/0000-0001-5208-3432, PMID:3231430] -subset: gard_rare synonym: "atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality" RELATED [GARD:0009213] xref: MESH:C536588 {source="MONDO:equivalentTo"} xref: UMLS:C2931255 {source="MONDO:equivalentTo", source="GARD:0009213"} @@ -405972,7 +424680,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9213/alsing- id: MONDO:0021879 name: small cell variant anaplastic large cell lymphoma def: "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." [NCIT:C7208] -subset: gard_rare synonym: "anaplastic small cell lymphoma" RELATED [GARD:0009477] synonym: "small cell variant anaplastic large cell lymphoma" EXACT [NCIT:C7208] synonym: "small cell variant of anaplastic large cell lymphoma" EXACT [GARD:0009477, MESH:C538255, PMID:21043827] @@ -406021,7 +424728,6 @@ is_a: MONDO:0006862 {source="MESH:D013706", source="UMLS:C0039496"} ! myofascial [Term] id: MONDO:0021896 name: anterior spinal artery stroke -subset: gard_rare xref: MESH:C537776 {source="MONDO:equivalentTo"} xref: UMLS:C2931608 {source="MONDO:equivalentTo", source="GARD:0009653"} is_a: MONDO:0005098 ! stroke disorder @@ -406034,7 +424740,6 @@ id: MONDO:0021902 name: aortopulmonary window def: "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." [NCIT:C101050] comment: Editor note: NCIT treats as disease but consider obsoleting in favor og HP -subset: gard_rare synonym: "aortic-pulmonary window" RELATED [GARD:0000745] synonym: "aorto-pulmonary window" RELATED [GARD:0000745] synonym: "aortopulmonary septal defect" EXACT [GARD:0000745, NCIT:C101050] @@ -406053,7 +424758,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/745/aortopul [Term] id: MONDO:0021905 name: Apert-like polydactyly syndrome -subset: gard_rare synonym: "Apert like polydactyly syndrome" RELATED [GARD:0000746] is_a: MONDO:0002254 ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome" xsd:anyURI {source="GARD:0000746"} @@ -406062,7 +424766,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/746/apert-li id: MONDO:0021907 name: aplasia cutis autosomal recessive def: "Aplasia cutis with autosomal recessive inheritance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608] -subset: gard_rare is_a: MONDO:0007145 ! aplasia cutis congenita property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive" xsd:anyURI {source="GARD:0000749"} @@ -406070,7 +424773,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/749/aplasia- id: MONDO:0021908 name: aplasia cutis congenita dominant def: "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608] -subset: gard_rare is_a: MONDO:0007145 {source="https://orcid.org/0000-0001-5208-3432"} ! aplasia cutis congenita property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant" xsd:anyURI {source="GARD:0000751"} @@ -406092,7 +424794,6 @@ replaced_by: MONDO:0010988 id: MONDO:0021913 name: aquagenic pruritus def: "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." [GARD:0010278] -subset: gard_rare synonym: "aquagenic pruritus" EXACT [] synonym: "water-induced itching" RELATED [] xref: ICD9:698.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -406128,7 +424829,6 @@ is_a: MONDO:0019052 {source="MESH:C537426/inferred", source="MONDO:Redundant", s [Term] id: MONDO:0021918 name: arena syndrome -subset: gard_rare synonym: "spastic paraplegia with iron deposits in basal ganglia" RELATED [GARD:0009223, MESH:C537428] xref: MESH:C537428 {source="MONDO:equivalentTo"} xref: UMLS:C2931491 {source="MONDO:equivalentTo", source="GARD:0009223"} @@ -406138,7 +424838,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9223/arena-s [Term] id: MONDO:0021921 name: Arnold stickler bourne syndrome -subset: gard_rare synonym: "corneal crystals myopathy and nephropathy" RELATED [MESH:C537431] synonym: "corneal crystals myopathy and neuropathy" RELATED [GARD:0000366] xref: MESH:C537431 {source="MONDO:equivalentTo"} @@ -406153,7 +424852,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/366/arnold-s id: MONDO:0021923 name: Arroyo Garcia Cimadevilla syndrome def: "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:1352427] -subset: gard_rare subset: n_of_one synonym: "bilateral anophthalmia, esophageal atresia, and right cryptorchidism" RELATED [GARD:0000771, MESH:C537439] xref: MESH:C537439 {source="MONDO:equivalentTo"} @@ -406206,7 +424904,6 @@ is_a: MONDO:0003964 {source="NCIT:C35081", source="UMLS:C0040798"} ! myositis os id: MONDO:0021932 name: infection by Trypanosoma gambiense def: "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." [NCIT:C35084] -subset: gard_rare synonym: "chronic sleeping sickness" RELATED [UMLS:C0041232] synonym: "Gambian sleeping sickness" RELATED [GARD:0008540, UMLS:C0041232] synonym: "Gambian trypanosomiasis" RELATED [NCIT:C35084, UMLS:C0041232] @@ -406228,7 +424925,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0008540"} ! rare id: MONDO:0021935 name: aspergillus niger infection def: "A infectious disease involving the Aspergillus niger." [MONDO:patterns/infectious_disease_by_agent] -subset: gard_rare synonym: "Aspergillus niger infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Aspergillus niger infection, pulmonary" RELATED [GARD:0009716, MESH:C535390] synonym: "infections, Aspergillus niger" RELATED [MONDO:patterns/infectious_disease_by_agent] @@ -406277,7 +424973,6 @@ id: MONDO:0021944 name: auditory neuropathy def: "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." [NCIT:C116364] comment: Editor note: OMIMPS seems to refer to a more restricted concept -subset: gard_rare synonym: "ANSD" EXACT ABBREVIATION [NCIT:C116364] synonym: "auditory dys-synchrony" EXACT [GARD:0009274, MESH:C538268, NCIT:C116364] synonym: "auditory neuropathy" EXACT CLINGEN_PREFERRED [NCIT:C116364] @@ -406343,7 +425038,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021950 name: autoimmune oophoritis def: "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." [GARD:0009461] -subset: gard_rare xref: MESH:C538274 {source="MONDO:equivalentTo"} xref: UMLS:C0878654 {source="GARD:0009461", source="MONDO:equivalentTo"} is_a: MONDO:0006877 {source="MESH:C538274", source="MONDO:Entailed", source="MONDO:Redundant"} ! oophoritis @@ -406356,7 +425050,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9461/autoimm id: MONDO:0021952 name: autoimmune progesterone dermatitis def: "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." [GARD:0009139] -subset: gard_rare synonym: "APD" RELATED ABBREVIATION [GARD:0009139] synonym: "autoimmune progesterone dermatitis" EXACT [] synonym: "autoimmune progesterone dermatitis/urticaria" EXACT [] @@ -406393,7 +425086,6 @@ intersection_of: MONDO:0006052 ! pulmonary tuberculosis [Term] id: MONDO:0021957 name: autosomal recessive nonsyndromic congenital nuclear cataract -subset: gard_rare synonym: "congenital nuclear cataract, autosomal recessive" RELATED [GARD:0009492, MESH:C537298] xref: MESH:C537298 {source="MONDO:equivalentTo"} xref: UMLS:C2931470 {source="GARD:0009492", source="MONDO:equivalentTo"} @@ -406419,7 +425111,6 @@ intersection_of: disease_has_inflammation_site UBERON:0000056 ! ureter [Term] id: MONDO:0021962 name: baetz-greenwalt syndrome -subset: gard_rare synonym: "hypoplastic right-sided heart complex" RELATED [GARD:0009216, MESH:C537795] xref: MESH:C537795 {source="MONDO:equivalentTo"} xref: UMLS:C2931615 {source="MONDO:equivalentTo", source="GARD:0009216"} @@ -406430,7 +425121,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9216/baetz-g [Term] id: MONDO:0021964 name: bagatelle Cassidy syndrome -subset: gard_rare synonym: "macrocephaly short limbs deafness" RELATED [GARD:0000398, MESH:C537796] synonym: "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" RELATED [GARD:0000398, MESH:C537796] xref: MESH:C537796 {source="MONDO:equivalentTo"} @@ -406444,7 +425134,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/398/bagatell id: MONDO:0021966 name: baker Vinters syndrome def: "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:6730919] -subset: gard_rare subset: n_of_one synonym: "hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" RELATED [GARD:0000808, MESH:C537899] xref: MESH:C537899 {source="MONDO:equivalentTo"} @@ -406457,7 +425146,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/808/baker-vi id: MONDO:0021969 name: Banti syndrome def: "A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages." [https://orcid.org/0000-0001-5208-3432, PMID:18731340] -subset: gard_rare synonym: "Banti's disease" RELATED [GARD:0005888, MESH:C537903] synonym: "Banti's syndrome" RELATED [GARD:0005888] synonym: "idiopathic congestive splenomegaly" RELATED [GARD:0005888, MESH:C537903] @@ -406481,7 +425169,6 @@ replaced_by: MONDO:0009041 id: MONDO:0021977 name: basaloid follicular hamartoma def: "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." [NCIT:C4749] -subset: gard_rare synonym: "basal cell nevus with comedones" EXACT [] synonym: "basaloid follicular hamartoma" EXACT [] xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -406495,7 +425182,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2354/basaloi id: MONDO:0021979 name: Basaran Yilmaz syndrome def: "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." [https://orcid.org/0000-0001-5208-3432, PMID:7577599] -subset: gard_rare synonym: "keratoderma, hypotrichosis and leukonychia totalis" RELATED [GARD:0000833, MESH:C537660] xref: MESH:C537660 {source="MONDO:equivalentTo"} xref: UMLS:C2931577 {source="MONDO:equivalentTo", source="GARD:0000833"} @@ -406506,7 +425192,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/833/basaran- [Term] id: MONDO:0021994 name: Berk-Tabatznik syndrome -subset: gard_rare synonym: "Berk Tabatznik syndrome" RELATED [MESH:C535432] synonym: "cleft nare, brachydactyly, short stature dwarfism" RELATED [GARD:0005109] synonym: "cleft nare, brachydactyly, short stature-dwarfism" RELATED [MESH:C535432] @@ -406537,7 +425222,6 @@ is_a: MONDO:0029000 {source="MESH:D014869"} ! poisoning id: MONDO:0022011 name: bobble-head doll syndrome def: "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." [GARD:0009731] -subset: gard_rare synonym: "BHDS" RELATED ABBREVIATION [GARD:0009731] synonym: "bobble head doll syndrome" RELATED [GARD:0009731, MESH:C536241] xref: MESH:C536241 {source="MONDO:equivalentTo"} @@ -406550,7 +425234,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9731/bobble- id: MONDO:0022013 name: Boerhaave syndrome def: "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." [https://orcid.org/0000-0001-5208-3432, PMID:27982294] -subset: gard_rare synonym: "Boerhaave syndrome" EXACT [] synonym: "Boerhaave's syndrome" RELATED [GARD:0009261, MESH:C536571] synonym: "boerhaave's syndrome" RELATED [] @@ -406582,7 +425265,6 @@ replaced_by: MONDO:0009579 id: MONDO:0022020 name: Boudhina Yedes Khiari syndrome def: "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" [GARD:0000945] -subset: gard_rare xref: MESH:C537939 {source="MONDO:equivalentTo"} xref: UMLS:C2931668 {source="MONDO:equivalentTo", source="GARD:0000945"} is_a: MONDO:0005093 {source="MESH:C537939"} ! skin disorder @@ -406595,7 +425277,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/945/boudhina id: MONDO:0022022 name: bowenoid papulosis def: "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported." [NCIT:C8374] -subset: gard_rare synonym: "Bowenoid papulosis" EXACT [NCIT:C8374] synonym: "bowenoid papulosis" EXACT [] synonym: "BP" RELATED ABBREVIATION [GARD:0005951] @@ -406610,7 +425291,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5951/bowenoi [Term] id: MONDO:0022025 name: boylan dew greco syndrome -subset: gard_rare synonym: "congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" RELATED [GARD:0000954, MESH:C537083] xref: MESH:C537083 {source="MONDO:equivalentTo"} xref: UMLS:C2931419 {source="MONDO:equivalentTo", source="GARD:0000954"} @@ -406641,7 +425321,6 @@ relationship: excluded_subClassOf MONDO:0006485 {source="MESH:D016180"} ! uterin id: MONDO:0022037 name: large-cell immunoblastic lymphoma def: "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." [MESH:D016400] -subset: gard_rare synonym: "Diffuse Immunoblastic Lymphosarcoma" RELATED [MESH:D016400] synonym: "Diffuse Immunoblastic Lymphosarcomas" RELATED [MESH:D016400] synonym: "Diffuse non-Hodgkin lymphoma, immunoblastic" RELATED [UMLS:C0079746] @@ -406695,7 +425374,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0008219"} ! rare [Term] id: MONDO:0022055 name: Calabro syndrome -subset: gard_rare synonym: "craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects" RELATED [GARD:0008584] xref: MESH:C537960 {source="MONDO:equivalentTo"} xref: UMLS:C0796276 {source="MONDO:equivalentTo", source="GARD:0008584"} @@ -406706,7 +425384,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8584/calabro id: MONDO:0022057 name: calcifying epithelial odontogenic tumor def: "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." [NCIT:C54301] -subset: gard_rare synonym: "calcifying epithelial odontogenic tumor" EXACT [NCIT:C54301] synonym: "CEOT" RELATED ABBREVIATION [GARD:0006256] synonym: "Pindborg tumor" EXACT [GARD:0006256, MESH:C537961, NCIT:C54301] @@ -406722,7 +425399,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6256/calcify [Term] id: MONDO:0022060 name: calloso-genital dysplasia -subset: gard_rare synonym: "primary amenorrhoea with coloboma and total agenesis of the corpus callosum" RELATED [GARD:0001055, MESH:C537962] xref: MESH:C537962 {source="MONDO:equivalentTo"} xref: UMLS:C2931677 {source="GARD:0001055", source="MONDO:equivalentTo"} @@ -406734,7 +425410,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1055/calloso [Term] id: MONDO:0022067 name: Cantu sanchez-corona fragoso syndrome -subset: gard_rare synonym: "severe mental deficiency proportionate dwarfism and delayed sexual maturation" RELATED [GARD:0001081] synonym: "severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" RELATED [MESH:C535571] xref: MESH:C535571 {source="MONDO:equivalentTo"} @@ -406749,7 +425424,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1081/cantu-s id: MONDO:0022070 name: Cantu sanchez-corona hernandez syndrome def: "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" [GARD:0001083] -subset: gard_rare is_a: MONDO:0002254 ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome" xsd:anyURI {source="GARD:0001083"} @@ -406757,7 +425431,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1083/cantu-s id: MONDO:0022071 name: carbon baby syndrome def: "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." [GARD:0001089] -subset: gard_rare synonym: "universal acquired melanosis" RELATED [GARD:0001089] xref: SCTID:238700008 {source="MONDO:equivalentTo"} xref: UMLS:C0406419 {source="GARD:0001089", source="MONDO:equivalentTo"} @@ -406767,7 +425440,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1089/carbon- [Term] id: MONDO:0022089 name: Carnevale hernandez castillo syndrome -subset: gard_rare synonym: "Triphalyngeal thumbs and brachyectrodactyly" RELATED [GARD:0001117, MESH:C535585] xref: MESH:C535585 {source="MONDO:equivalentTo"} xref: UMLS:C2930940 {source="GARD:0001117", source="MONDO:equivalentTo"} @@ -406777,7 +425449,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1117/carneva [Term] id: MONDO:0022094 name: Cartwright Nelson Fryns syndrome -subset: gard_rare synonym: "Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails" RELATED [GARD:0001132] synonym: "Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails" RELATED DEPRECATED [GARD:0001132] xref: MESH:C535917 {source="MONDO:equivalentTo"} @@ -406822,7 +425493,6 @@ is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma id: MONDO:0022098 name: catamenial pneumothorax def: "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." [GARD:0009858] -subset: gard_rare synonym: "catamenial pneumothorax" EXACT [] synonym: "premenstrual pneumothorax" RELATED [] xref: MESH:C538279 {source="MONDO:equivalentTo"} @@ -406862,7 +425532,6 @@ is_obsolete: true [Term] id: MONDO:0022113 name: central centrifugal cicatricial alopecia -subset: gard_rare synonym: "CCCA" RELATED ABBREVIATION [OMIM:618352] synonym: "central centrifugal alopecia" RELATED [GARD:0010826] synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA" RELATED [OMIM:618352] @@ -406880,7 +425549,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10826/centra id: MONDO:0022140 name: Charles bonnet syndrome def: "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." [GARD:0010343] -subset: gard_rare synonym: "CBS" RELATED ABBREVIATION [GARD:0010343] synonym: "charles bonnet syndrome" EXACT [] xref: MESH:D000075562 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -406898,7 +425566,6 @@ replaced_by: MONDO:0008816 [Term] id: MONDO:0022151 name: Chitty Hall Webb syndrome -subset: gard_rare synonym: "bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay" RELATED [GARD:0001277] xref: MESH:C535929 {source="MONDO:equivalentTo"} xref: SCTID:725103004 {source="MONDO:equivalentTo"} @@ -406912,7 +425579,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1277/chitty- id: MONDO:0022171 name: chromhidrosis def: "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." [Wikipedia:Chromhidrosis] -subset: gard_rare synonym: "chromhidrosis" EXACT [] synonym: "secretion of colored sweat" RELATED [] synonym: "secretion of coloured sweat" RELATED OMO:0003005 [] @@ -406929,6 +425595,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10749/chromh id: MONDO:0022173 name: chromosome 11q trisomy subset: disease_grouping +subset: gard_rare {source="GARD:20882"} subset: ordo_group_of_disorders {source="Orphanet:262923"} synonym: "11q duplication" EXACT [GARD:0001923] synonym: "11q trisomy" EXACT [GARD:0001923] @@ -406941,6 +425608,7 @@ synonym: "partial trisomy 11q" EXACT [GARD:0001923] synonym: "partial trisomy of chromosome 11q" EXACT [Orphanet:262923] synonym: "partial trisomy of the long arm of chromosome 11" EXACT [Orphanet:262923] synonym: "trisomy 11q" EXACT [GARD:0001923, MESH:C538297] +xref: GARD:20882 {source="Orphanet:262923"} xref: MESH:C538297 {source="MONDO:equivalentTo"} xref: Orphanet:262923 {source="MONDO:equivalentTo"} xref: UMLS:C0795842 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001923"} @@ -406956,7 +425624,7 @@ id: MONDO:0022174 name: chromosome 12p deletion def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." [NCIT:C36410] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:21404"} subset: ordo_group_of_disorders {source="Orphanet:316244"} synonym: "12p del" RELATED [NCIT:C36410] synonym: "12p deletion" RELATED [GARD:0006068] @@ -406972,6 +425640,7 @@ synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDOR synonym: "partial monosomy 12p" RELATED [GARD:0006068] synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244] synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244] +xref: GARD:21404 {source="Orphanet:316244"} xref: ICD10CM:Q93.5 {source="Orphanet:316244/attributed", source="Orphanet:316244/ntbt", source="Orphanet:316244"} xref: MESH:C538301 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C538302 {source="MONDO:equivalentTo"} @@ -406989,7 +425658,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6068/chromos id: MONDO:0022177 name: chromosome 13q trisomy subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20883"} subset: ordo_group_of_disorders {source="Orphanet:262932"} synonym: "13q duplication" EXACT [GARD:0001929] synonym: "13q trisomy" EXACT [GARD:0001929] @@ -407002,6 +425671,7 @@ synonym: "partial trisomy 13q" EXACT [GARD:0001929] synonym: "partial trisomy of chromosome 13q" EXACT [Orphanet:262932] synonym: "partial trisomy of the long arm of chromosome 13" EXACT [Orphanet:262932] synonym: "trisomy 13q" EXACT [GARD:0001929, MESH:C535485] +xref: GARD:20883 {source="Orphanet:262932"} xref: MESH:C535485 {source="MONDO:equivalentTo"} xref: Orphanet:262932 {source="MONDO:equivalentTo"} xref: UMLS:C0795849 {source="GARD:0001929", source="MONDO:relatedTo"} @@ -407026,7 +425696,6 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 [Term] id: MONDO:0022180 name: chromosome 16 trisomy -subset: gard_rare synonym: "mosaic trisomy 16" RELATED [GARD:0007060] synonym: "trisomy 16" RELATED [GARD:0007060] synonym: "trisomy chromosome 16" RELATED [GARD:0007060] @@ -407040,7 +425709,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7060/chromos [Term] id: MONDO:0022196 name: chronic erosive gastritis -subset: gard_rare synonym: "ceg - chronic erosive gastritis" RELATED [] synonym: "chronic erosive gastritis" EXACT [] synonym: "diffuse varioliform gastritis" RELATED [] @@ -407079,7 +425747,6 @@ is_a: MONDO:0045040 ! locational disease characteristic [Term] id: MONDO:0022205 name: pustular psoriasis -subset: gard_rare synonym: "Pustular psoriasis" RELATED [UMLS:C0152081] synonym: "pustular psoriasis" EXACT [] xref: ICD9:696.1 @@ -407152,7 +425819,6 @@ id: MONDO:0022236 name: colpocephaly alt_id: MONDO:0022808 def: "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." [GARD:0010008] -subset: gard_rare xref: MESH:C535973 {source="MONDO:equivalentTo"} xref: SCTID:253160006 {source="MONDO:equivalentTo"} xref: UMLS:C0431384 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0010008"} @@ -407190,7 +425856,6 @@ intersection_of: disease_has_location UBERON:0036269 ! penis blood vessel id: MONDO:0022308 name: corticobasal degeneration disorder def: "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." [NCIT:C129069] -subset: gard_rare synonym: "CBGD" RELATED ABBREVIATION [GARD:0000046] synonym: "cortical basal ganglionic degeneration" EXACT [NCIT:C129069] synonym: "cortical-basal ganglionic degeneration" RELATED [GARD:0000046] @@ -407211,7 +425876,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/46/corticoba [Term] id: MONDO:0022311 name: cote katsantoni syndrome -subset: gard_rare synonym: "ectodermal dysplasia osteosclerosis" RELATED [GARD:0001554] xref: MESH:C536449 {source="MONDO:equivalentTo"} xref: Orphanet:1502 {source="GARD:0001554"} @@ -407255,7 +425919,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0022321 name: 2-methylacetoacetyl CoA thiolase deficiency comment: Editor note: todo split Wikipedia:2-methylacetoacetyl-CoA_thiolase -subset: gard_rare xref: MESH:C535307 {source="MONDO:equivalentTo"} xref: UMLS:C2930874 {source="MONDO:equivalentTo", source="GARD:0008382"} is_a: MONDO:0004736 {source="MESH:C535307"} ! inborn disorder of amino acid metabolism @@ -407264,7 +425927,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8382/2-methy [Term] id: MONDO:0022323 name: 2-hydroxyethyl methacrylate sensitization -subset: gard_rare synonym: "2-HEMA sensitization" RELATED [GARD:0008635] synonym: "sensitization to 2-hydroxyethyl methacrylate" RELATED [GARD:0008635, MESH:C535305] xref: MESH:C535305 {source="MONDO:equivalentTo"} @@ -407275,7 +425937,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8635/2-hydro [Term] id: MONDO:0022330 name: 4-hydroxyphenylacetic aciduria -subset: gard_rare xref: MESH:C535315 {source="MONDO:equivalentTo"} xref: UMLS:C1848680 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0008155"} is_a: MONDO:0005020 {source="MESH:C535315", source="MONDO:Redundant"} ! intestinal disorder @@ -407285,7 +425946,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8155/4-hydro [Term] id: MONDO:0022333 name: 5-nucleotidase syndrome -subset: gard_rare synonym: "5'-Nucleotidase syndrome" RELATED [MESH:C535321] synonym: "5'NT syndrome" RELATED [GARD:0008242] xref: MESH:C535321 {source="MONDO:equivalentTo"} @@ -407296,14 +425956,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8242/5-nucle [Term] id: MONDO:0022337 name: AIDS dysmorphic syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome" xsd:anyURI {source="GARD:0005765"} [Term] id: MONDO:0022338 name: ALK+ histiocytosis -subset: gard_rare synonym: "anaplastic lymphoma kinase positive histiocytosis" RELATED [GARD:0010577] is_a: MONDO:0002637 {source="MONDO:cjm"} ! histiocytosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis" xsd:anyURI {source="GARD:0010577"} @@ -407313,7 +425971,6 @@ id: MONDO:0022349 name: congenital absence of septum pellucidum def: "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." [GARD:0009253] comment: Editor note: consider representing as finding -subset: gard_rare synonym: "absence of septum pellucidum" EXACT [] xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535562 {source="MONDO:equivalentTo"} @@ -407331,7 +425988,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9253/absence id: MONDO:0022357 name: congenital acardia comment: Editor note: axiomatize using HPO; check parent class MONDO:0002254 -subset: gard_rare synonym: "acardia" EXACT [] synonym: "congenital absence of the heart" RELATED [GARD:0009823] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -407345,7 +426001,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9823/acardia id: MONDO:0022380 name: acute lymphoblastic leukemia congenital sporadic aniridia def: "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." [https://orcid.org/0000-0001-5208-3432, PMID:2735788] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature MONDO:0018874 ! acute myeloid leukemia relationship: disease_has_feature MONDO:0019172 ! aniridia @@ -407355,7 +426010,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/523/acute-ly [Term] id: MONDO:0022394 name: cervical intraepithelial neoplasia -subset: gard_rare synonym: "Cervical Dysplasia" RELATED [NCIT:C3782] synonym: "Cervical Intraepithelial Neoplasia" RELATED [MESH:D018290, NCIT:C3782] synonym: "Cervical intraepithelial neoplasia" RELATED [UMLS:C0206708] @@ -407389,6 +426043,8 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0009244"} ! rare [Term] id: MONDO:0022397 name: obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene +subset: gard_rare {source="GARD:19988"} +xref: GARD:19988 {source="Orphanet:156168", source="MONDO:obsoleteEquivalent"} xref: Orphanet:156168 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407402,7 +426058,6 @@ id: MONDO:0022398 name: aglossia and situs inversus def: "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." [https://orcid.org/0000-0001-5208-3432, PMID:26349289] comment: Editor note: check relationship to MONDO:0008740 -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature HP:0012730 ! Aglossia relationship: disease_has_feature MONDO:0010029 ! situs inversus @@ -407411,6 +426066,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9211/aglossi [Term] id: MONDO:0022399 name: obsolete retinal ciliopathy due to mutation in the RPGR gene +subset: gard_rare {source="GARD:19989"} +xref: GARD:19989 {source="MONDO:obsoleteEquivalent", source="Orphanet:156171"} xref: Orphanet:156171 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407422,6 +426079,8 @@ is_obsolete: true [Term] id: MONDO:0022400 name: obsolete retinal ciliopathy due to mutation in the RPGRIP gene +subset: gard_rare {source="GARD:19990"} +xref: GARD:19990 {source="MONDO:obsoleteEquivalent", source="Orphanet:156174"} xref: Orphanet:156174 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407434,7 +426093,6 @@ is_obsolete: true id: MONDO:0022401 name: agyria pachygyria polymicrogyria def: "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." [https://orcid.org/0000-0001-5208-3432, PMID:22333901] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria" xsd:anyURI {source="GARD:0000572"} @@ -407442,7 +426100,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/572/agyria-p id: MONDO:0022402 name: agyria-pachygyria type 1 def: "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." [https://orcid.org/0000-0001-5208-3432, PMID:2063992] -subset: gard_rare synonym: "Bielchowsky type of lissencephaly" EXACT [PMID:2063992] synonym: "type I lissencephaly" EXACT [PMID:2063992] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -407452,7 +426109,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/573/agyria-p id: MONDO:0022403 name: Ahumada Del Castillo syndrome def: "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." [https://orcid.org/0000-0001-5208-3432, PMID:13022752] -subset: gard_rare synonym: "amenorrhea galactorrhea FSH decrease syndrome" RELATED [GARD:0005763] synonym: "Argonz Ahumada Del Castillo syndrome" RELATED [GARD:0005763] synonym: "Argonz Del Castillo syndrome" RELATED [GARD:0005763] @@ -407464,6 +426120,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5763/ahumada [Term] id: MONDO:0022404 name: obsolete retinal ciliopathy due to mutation in Usher gene +subset: gard_rare {source="GARD:19991"} +xref: GARD:19991 {source="Orphanet:156177", source="MONDO:obsoleteEquivalent"} xref: Orphanet:156177 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407475,6 +426133,8 @@ is_obsolete: true [Term] id: MONDO:0022405 name: obsolete retinal ciliopathy due to mutation in nephronophthisis gene +subset: gard_rare {source="GARD:19992"} +xref: GARD:19992 {source="MONDO:obsoleteEquivalent", source="Orphanet:156180"} xref: Orphanet:156180 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407492,6 +426152,8 @@ replaced_by: MONDO:0021836 [Term] id: MONDO:0022407 name: obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene +subset: gard_rare {source="GARD:19993"} +xref: GARD:19993 {source="MONDO:obsoleteEquivalent", source="Orphanet:156183"} xref: Orphanet:156183 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407503,6 +426165,8 @@ is_obsolete: true [Term] id: MONDO:0022409 name: obsolete nephropathy-associated ciliopathy +subset: gard_rare {source="GARD:19986"} +xref: GARD:19986 {source="MONDO:obsoleteEquivalent", source="Orphanet:156162"} xref: Orphanet:156162 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407514,7 +426178,9 @@ is_obsolete: true id: MONDO:0022410 name: retinal ciliopathy subset: disease_grouping +subset: gard_rare {source="GARD:19987"} subset: ordo_group_of_disorders +xref: GARD:19987 {source="Orphanet:156165"} xref: Orphanet:156165 {source="MONDO:equivalentTo"} is_a: MONDO:0005308 {source="Orphanet:156165"} ! ciliopathy intersection_of: MONDO:0005308 ! ciliopathy @@ -407523,14 +426189,12 @@ intersection_of: disease_has_location UBERON:0000966 ! retina [Term] id: MONDO:0022412 name: obsolete albinism immunodeficiency -subset: gard_rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency" xsd:anyURI {source="GARD:0000590"} is_obsolete: true [Term] id: MONDO:0022413 name: Albright-like syndrome -subset: gard_rare synonym: "Albright like syndrome" RELATED [GARD:0000596] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_shares_features_of MONDO:0008274 ! polyostotic fibrous dysplasia @@ -407539,7 +426203,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/596/albright [Term] id: MONDO:0022414 name: allain-babin-demarquez syndrome -subset: gard_rare synonym: "acro cephalo synostosis" RELATED [GARD:0000124] synonym: "craniosynostosis synostoses hypertensive nephropathy" RELATED [GARD:0000124] xref: Orphanet:1526 {source="MONDO:equivalentObsolete", source="GARD:0000124"} @@ -407582,7 +426245,6 @@ is_a: MONDO:0019052 {source="MESH:C536584/inferred", source="MONDO:Redundant", s [Term] id: MONDO:0022425 name: alpha-thalassemia-abnormal morphogenesis -subset: gard_rare synonym: "Abuelo Forman Rubin syndrome" RELATED [GARD:0000362] synonym: "homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects" RELATED [GARD:0000362] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -407593,7 +426255,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/362/alpha-th id: MONDO:0022428 name: aluminosis def: "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." [https://orcid.org/0000-0001-5208-3432, PMID:16722569] -subset: gard_rare synonym: "aluminium lung" RELATED OMO:0003005 [] synonym: "aluminosis of lung" EXACT [] synonym: "aluminum lung" RELATED [GARD:0008357] @@ -407654,7 +426315,6 @@ is_a: MONDO:0002254 {source="NCIT:C130997", source="UMLS:C0221005"} ! syndromic id: MONDO:0022444 name: amyloidosis bronchopulmonary def: "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." [https://orcid.org/0000-0001-5208-3432, PMID:22197156] -subset: gard_rare is_a: MONDO:0019065 {source="MONDO:cjm"} ! amyloidosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary" xsd:anyURI {source="GARD:0001026"} @@ -407669,7 +426329,6 @@ replaced_by: MONDO:0015302 [Term] id: MONDO:0022448 name: obsolete amyoplasia mandibulofacial dysostosis -subset: gard_rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis" xsd:anyURI {source="GARD:0000660"} is_obsolete: true @@ -407677,7 +426336,6 @@ is_obsolete: true id: MONDO:0022453 name: angiomyomatous hamartoma def: "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." [https://orcid.org/0000-0001-5208-3432, PMID:28899738] -subset: gard_rare xref: UMLS:C2959445 {source="MONDO:equivalentTo"} is_a: MONDO:0006499 {source="https://orcid.org/0000-0001-5208-3432"} ! hamartoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma" xsd:anyURI {source="GARD:0008313"} @@ -407686,7 +426344,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8313/angiomy id: MONDO:0022454 name: angiosarcoma of the scalp def: "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." [GARD:0005814] -subset: gard_rare synonym: "angiosarcoma (disease) of scalp" EXACT [] synonym: "scalp angiosarcoma (disease)" EXACT [MONDO:patterns/location] intersection_of: MONDO:0016982 ! angiosarcoma @@ -407696,14 +426353,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5814/angiosa [Term] id: MONDO:0022456 name: ankle defects short stature -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature" xsd:anyURI {source="GARD:0000694"} [Term] id: MONDO:0022457 name: ankyloblepharon filiforme imperforate anus -subset: gard_rare xref: Orphanet:1074 {source="MONDO:relatedTo", source="GARD:0000697"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus" xsd:anyURI {source="GARD:0000697"} @@ -407712,7 +426367,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/697/ankylobl id: MONDO:0022458 name: annular constricting bands def: "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." [https://orcid.org/0000-0001-5208-3432, PMID:374416] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands" xsd:anyURI {source="GARD:0000704"} @@ -407726,7 +426380,6 @@ replaced_by: MONDO:0010930 id: MONDO:0022461 name: anophthalmia cleft palate micrognathia def: "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." [https://orcid.org/0000-0001-5208-3432, PMID:7891380] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia" xsd:anyURI {source="GARD:0000715"} @@ -407734,7 +426387,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/715/anophtha id: MONDO:0022462 name: anophthalmia esophageal atresia cryptorchidism def: "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:1352427] -subset: gard_rare subset: n_of_one {xref="PMID:1352427"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism" xsd:anyURI {source="GARD:0000716"} @@ -407758,7 +426410,6 @@ is_obsolete: true id: MONDO:0022465 name: anotia facial palsy cardiac defect def: "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." [https://orcid.org/0000-0001-5208-3432, PMID:6470867] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect" xsd:anyURI {source="GARD:0000725"} @@ -407766,7 +426417,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/725/anotia-f id: MONDO:0022468 name: antigen-peptide-transporter 2 deficiency def: "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." [https://orcid.org/0000-0001-5208-3432, PMID:23662797] -subset: gard_rare synonym: "antigen processing (TAP) deficiency syndrome" EXACT [PMID:23662797] synonym: "TAP 2 deficiency" RELATED [GARD:0000732] is_a: MONDO:0019052 ! inborn errors of metabolism @@ -407784,14 +426434,12 @@ replaced_by: MONDO:0015236 id: MONDO:0022470 name: aortic dissection lentiginosis def: "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." [https://orcid.org/0000-0001-5208-3432, PMID:7838191] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis" xsd:anyURI {source="GARD:0000742"} [Term] id: MONDO:0022471 name: childhood aortic valve stenosis -subset: gard_rare synonym: "aortic valves stenosis of the child" RELATED [GARD:0000744] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0003803 {source="MONDO:cjm"} ! aortic valve disorder @@ -407801,14 +426449,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/744/aortic-v [Term] id: MONDO:0022481 name: APO A-i deficiency -subset: gard_rare is_a: MONDO:0019052 ! inborn errors of metabolism property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency" xsd:anyURI {source="GARD:0000758"} [Term] id: MONDO:0022482 name: obsolete apolipoprotein C 2i deficiency -subset: gard_rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/759/apolipoprotein-c-2i-deficiency" xsd:anyURI {source="GARD:0000759"} is_obsolete: true replaced_by: MONDO:0008810 @@ -407826,7 +426472,6 @@ is_obsolete: true id: MONDO:0022496 name: arthrogryposis IUGR thoracic dystrophy def: "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." [https://orcid.org/0000-0001-5208-3432, PMID:196478] -subset: gard_rare synonym: "Van Bervliet syndrome" RELATED [GARD:0000782] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy" xsd:anyURI {source="GARD:0000782"} @@ -407835,14 +426480,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/782/arthrogr id: MONDO:0022500 name: arthrogryposis multiplex congenita CNS calcification def: "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." [https://orcid.org/0000-0001-5208-3432, PMID:3205375] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification" xsd:anyURI {source="GARD:0000785"} [Term] id: MONDO:0022504 name: arthrogryposis spinal muscular atrophy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy" xsd:anyURI {source="GARD:0000795"} @@ -407850,7 +426493,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/795/arthrogr id: MONDO:0022509 name: asternia def: "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." [GARD:0009221] -subset: gard_rare synonym: "absent sternum" RELATED [GARD:0009221] xref: UMLS:C1364751 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009221"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -407859,7 +426501,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9221/asterni [Term] id: MONDO:0022510 name: atlanto-axial fusion -subset: gard_rare synonym: "atlantoaxial fusion" RELATED [GARD:0009219, MESH:C538196] synonym: "atlantoaxial joint fusion" RELATED [GARD:0009219, MESH:C538196] xref: MESH:C538196 {source="MONDO:equivalentTo"} @@ -407878,7 +426519,6 @@ replaced_by: MONDO:0020435 id: MONDO:0022513 name: atrophoderma of Pierini and Pasini def: "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." [GARD:0005866] -subset: gard_rare synonym: "congenital atrophoderma of Pasini and Pierini" RELATED [GARD:0005866] synonym: "idiopathic atrophoderma of Pasini and Pierini" RELATED [GARD:0005866] xref: ICD10CM:L90.3 {source="MONDO:equivalentTo"} @@ -407891,7 +426531,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5866/atropho id: MONDO:0022518 name: autoimmune inner ear disease def: "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." [https://orcid.org/0000-0001-5208-3432, PMID:26485595] -subset: gard_rare synonym: "AIED" RELATED ABBREVIATION [GARD:0008582] intersection_of: MONDO:0002467 ! inner ear disorder intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -407900,7 +426539,6 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity id: MONDO:0022519 name: autoimmune myocarditis def: "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." [GARD:0009519] -subset: gard_rare xref: DOID:0080767 {source="MONDO:equivalentTo"} xref: UMLS:C1608389 {source="GARD:0009519", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0004496 ! myocarditis @@ -407910,7 +426548,6 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0022529 name: BK-virus nephropathy -subset: gard_rare synonym: "BK virus nephropathy" EXACT [GARD:0010470] synonym: "BKN" EXACT ABBREVIATION [GARD:0010470] synonym: "kidney disease caused by BK polyomavirus" EXACT [] @@ -407961,7 +426598,6 @@ intersection_of: disease_has_location UBERON:0001828 ! gingiva id: MONDO:0022545 name: Barnicoat Baraitser syndrome comment: Editor note: GARD cross-references an Orphanet term that appears not to exist. -subset: gard_rare synonym: "Barnicoat-Baraitser syndrome" RELATED [GARD:0000825] synonym: "polysyndactyly overgrowth syndrome" RELATED [GARD:0000825] xref: Orphanet:2936 {source="GARD:0000825"} @@ -407980,7 +426616,6 @@ replaced_by: MONDO:0021845 id: MONDO:0022551 name: Basedow's coma def: "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." [https://orcid.org/0000-0001-5208-3432, PMID:26293122] -subset: gard_rare synonym: "Coma basedovicum" RELATED [GARD:0008177] synonym: "Karl Adolph von Basedow" RELATED [GARD:0008177] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -407997,7 +426632,6 @@ is_a: MONDO:0007405 {source="MESH:C537664"} ! Crouzon syndrome [Term] id: MONDO:0022553 name: BD syndrome -subset: gard_rare xref: UMLS:C0796008 {source="GARD:0000841", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/841/bd-syndrome" xsd:anyURI {source="GARD:0000841"} @@ -408021,7 +426655,6 @@ replaced_by: MONDO:0022557 [Term] id: MONDO:0022557 name: Behrens Baumann dust syndrome -subset: gard_rare synonym: "Behrens-Baumann-Vogel syndrome" EXACT [GARD:0004021] synonym: "microphthalmia-optic nerve dysplasia" RELATED [GARD:0004021] synonym: "oculo-cerebral dysplasia" EXACT [MESH:C537670, MONDO:0022556] @@ -408039,7 +426672,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4021/oculo-c id: MONDO:0022559 name: benign angiitis of the central nervous system def: "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." [https://orcid.org/0000-0001-5208-3432, PMID:17043471] -subset: gard_rare synonym: "BACNS" RELATED ABBREVIATION [GARD:0008704] is_a: MONDO:0018882 {source="MONDO:Redundant", source="MONDO:cjm"} ! vasculitis relationship: disease_has_location UBERON:0001017 ! central nervous system @@ -408049,7 +426681,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8704/benign- id: MONDO:0022560 name: benign metastasizing leiomyoma def: "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." [https://orcid.org/0000-0001-5208-3432, PMID:28426767] -subset: gard_rare intersection_of: MONDO:0001572 ! leiomyoma intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic @@ -408057,7 +426688,6 @@ intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic [Term] id: MONDO:0022566 name: obsolete BEST1 retinopathy -subset: gard_rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy" xsd:anyURI {source="GARD:0010301"} is_obsolete: true replaced_by: MONDO:0007931 @@ -408073,7 +426703,6 @@ is_a: MONDO:0005129 {source="MESH:C535437", source="MONDO:Redundant"} ! cataract [Term] id: MONDO:0022568 name: bidirectional tachycardia -subset: gard_rare synonym: "bidirectional ventricular tachycardia" RELATED [GARD:0000878, MESH:C535438] xref: MESH:C535438 {source="MONDO:equivalentTo"} xref: UMLS:C2930902 {source="MONDO:equivalentTo", source="GARD:0000878"} @@ -408083,21 +426712,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/878/bidirect [Term] id: MONDO:0022572 name: bilateral renal agenesis dominant type -subset: gard_rare is_a: MONDO:0015986 {source="https://orcid.org/0000-0001-5208-3432"} ! bilateral renal agenesis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type" xsd:anyURI {source="GARD:0000885"} [Term] id: MONDO:0022573 name: biliary atresia intrahepatic non syndromic form -subset: gard_rare is_a: MONDO:0008867 {source="https://orcid.org/0000-0001-5208-3432"} ! biliary atresia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form" xsd:anyURI {source="GARD:0000887"} [Term] id: MONDO:0022574 name: biliary atresia intrahepatic syndromic form -subset: gard_rare is_a: MONDO:0008867 {source="https://orcid.org/0000-0001-5208-3432"} ! biliary atresia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form" xsd:anyURI {source="GARD:0000888"} @@ -408106,14 +426732,12 @@ id: MONDO:0022575 name: biliary hypoplasia def: "A syndromic disease characterized by a small ductal system and reduction in the number of interlobular bile ducts." [https://orcid.org/0000-0001-5208-3432, PMID:12664410] comment: Editor note: consider making this a finding -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia" xsd:anyURI {source="GARD:0008383"} [Term] id: MONDO:0022576 name: bilirubin induced brain injury in the newborn -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn" xsd:anyURI {source="GARD:0009243"} @@ -408121,7 +426745,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9243/bilirub id: MONDO:0022577 name: Billet bear syndrome def: "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." [https://orcid.org/0000-0001-5208-3432, PMID:3282726] -subset: gard_rare synonym: "billet-bear syndrome" EXACT [] synonym: "Lower limb partial duplication renal agenesis" RELATED [GARD:0000892] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -408131,7 +426754,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/892/billet-b id: MONDO:0022578 name: childhood bladder carcinoma def: "A rare carcinoma of the bladder that occurs during childhood." [NCIT:C118816] -subset: gard_rare synonym: "bladder cancer" EXACT [NCIT:C118816] synonym: "bladder cancer childhood" RELATED [GARD:0009305] synonym: "bladder cancer, childhood" RELATED [GARD:0009305] @@ -408147,21 +426769,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9305/bladder id: MONDO:0022580 name: blepharo naso facial syndrome van Maldergem type def: "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." [https://orcid.org/0000-0001-5208-3432, PMID:12072799] -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type" xsd:anyURI {source="GARD:0000902"} [Term] id: MONDO:0022586 name: bone dysplasia Moore type -subset: gard_rare is_a: MONDO:0018230 ! skeletal dysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type" xsd:anyURI {source="GARD:0000923"} [Term] id: MONDO:0022587 name: bone dysplasia corpus callosum agenesis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0018230 ! skeletal dysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0000921"} @@ -408169,28 +426788,24 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/921/bone-dys [Term] id: MONDO:0022598 name: brachydactyly absence of distal phalanges -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges" xsd:anyURI {source="GARD:0000961"} [Term] id: MONDO:0022599 name: brachydactyly anonychia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia" xsd:anyURI {source="GARD:0000962"} [Term] id: MONDO:0022602 name: brachydactyly small stature face anomalies -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies" xsd:anyURI {source="GARD:0000974"} [Term] id: MONDO:0022603 name: brachydactyly tibial hypoplasia -subset: gard_rare xref: Orphanet:1280 {source="GARD:0000977"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia" xsd:anyURI {source="GARD:0000977"} @@ -408207,7 +426822,6 @@ replaced_by: MONDO:0008884 id: MONDO:0022606 name: branchial arch disease def: "A disease that involves the pharyngeal system development." [MONDO:patterns/location] -subset: gard_rare synonym: "disease of pharyngeal system development" EXACT [MONDO:patterns/location_top] synonym: "disorder of pharyngeal system development" EXACT [MONDO:patterns/basis_in_disruption_of_process, MONDO:patterns/location_top] synonym: "pharyngeal system development disease" EXACT [MONDO:patterns/location] @@ -408218,7 +426832,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0060037 ! pharyngeal syst id: MONDO:0022607 name: extraovarian Brenner tumor of the vagina def: "A Brenner tumor that involves the vagina." [MONDO:patterns/location] -subset: gard_rare synonym: "Brenner tumor of the vagina" RELATED [GARD:0010006] synonym: "Brenner tumour of the vagina" RELATED OMO:0003005 [] synonym: "extraovarian Brenner tumor of the vagina" EXACT [GARD:0010006] @@ -408231,7 +426844,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10006/brenne [Term] id: MONDO:0022608 name: brittle bone syndrome lethal type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0011375 ! brittle bone disorder property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type" xsd:anyURI {source="GARD:0001018"} @@ -408239,7 +426851,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1018/brittle [Term] id: MONDO:0022609 name: bronchial adenomas/carcinoids childhood -subset: gard_rare synonym: "bronchial carcinoids" RELATED [GARD:0009313] xref: UMLS:C4013426 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 ! neoplasm @@ -408248,7 +426859,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9313/bronchi [Term] id: MONDO:0022610 name: bronchiectasis oligospermia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia" xsd:anyURI {source="GARD:0001023"} @@ -408265,7 +426875,6 @@ is_a: MONDO:0019287 {source="MESH:C537408"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0022612 name: Brunsting-Perry syndrome -subset: gard_rare synonym: "Brunsting Perry syndrome" RELATED [GARD:0010454] synonym: "cicatricial pemphigoid of the Brunsting-Perry type" RELATED [GARD:0010454] synonym: "localised cicatricial pemphigoid" RELATED OMO:0003005 [] @@ -408278,21 +426887,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10454/brunst [Term] id: MONDO:0022613 name: bruyn scheltens syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome" xsd:anyURI {source="GARD:0001034"} [Term] id: MONDO:0022615 name: burn goodship syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome" xsd:anyURI {source="GARD:0001041"} [Term] id: MONDO:0022618 name: burning mouth syndrome type 3 -subset: gard_rare synonym: "BMS-3" RELATED [GARD:0008558] synonym: "Psychiatric disorders coexisting with burning mouth syndrome" RELATED [GARD:0008558] synonym: "type 3 burning mouth syndrome" RELATED [GARD:0008558] @@ -408312,7 +426918,6 @@ replaced_by: MONDO:0030981 [Term] id: MONDO:0022622 name: congenital disorder of glycosylation syndrome type 4 -subset: gard_rare synonym: "CDG syndrome type 4" EXACT [GARD:0001174] synonym: "congenital disorder of glycosylation syndrome type 4" EXACT CLINGEN_PREFERRED [] is_a: MONDO:0015286 {source="DOID:0050571"} ! congenital disorder of glycosylation @@ -408321,7 +426926,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1174/cdg-syn [Term] id: MONDO:0022623 name: CDK4 linked melanoma -subset: gard_rare is_a: MONDO:0005105 {source="https://orcid.org/0000-0001-5208-3432"} ! melanoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma" xsd:anyURI {source="GARD:0001175"} @@ -408336,7 +426940,6 @@ relationship: disease_has_feature MONDO:0018234 {source="MESH:C537969"} ! dysost [Term] id: MONDO:0022634 name: camptodactyly vertebral fusion -subset: gard_rare synonym: "camptodactyly and sacral vertebral fusion" RELATED [MESH:C537973] synonym: "camptodactyly and sacral vertebral fusion (subtype)" RELATED [GARD:0001070] xref: MESH:C537973 {source="MONDO:equivalentTo"} @@ -408347,7 +426950,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1070/camptod [Term] id: MONDO:0022636 name: candida glabrata infection -subset: gard_rare synonym: "candida glabrata" EXACT [GARD:0008171] synonym: "Torulopsis glabrata (formerly)" RELATED [GARD:0008171] is_a: MONDO:0002026 ! candidiasis @@ -408358,7 +426960,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8171/candida [Term] id: MONDO:0022639 name: Cantu sanchez-corona Garcia-Cruz syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome" xsd:anyURI {source="GARD:0001082"} @@ -408366,7 +426967,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1082/cantu-s id: MONDO:0022642 name: childhood carcinoid tumor def: "A rare carcinoid tumor that occurs during childhood." [NCIT:C118810] -subset: gard_rare synonym: "carcinoid tumor (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "carcinoid tumor childhood" RELATED [GARD:0009315] synonym: "carcinoid tumour (disease) of childhood" EXACT OMO:0003005 [] @@ -408387,7 +426987,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9315/carcino id: MONDO:0022643 name: carcinoma of the vocal tract def: "A carcinoma that involves the laryngeal vocal fold." [MONDO:patterns/location] -subset: gard_rare synonym: "carcinoma of laryngeal vocal fold" EXACT [MONDO:patterns/carcinoma] synonym: "laryngeal vocal fold carcinoma" EXACT [MONDO:patterns/location] intersection_of: MONDO:0004993 ! carcinoma @@ -408396,7 +426995,6 @@ intersection_of: disease_has_location UBERON:0003706 ! laryngeal vocal fold [Term] id: MONDO:0022644 name: cardiac hydatid cysts with intracavitary expansion -subset: gard_rare synonym: "Cardiac hydatidosis" RELATED [GARD:0000199] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion" xsd:anyURI {source="GARD:0000199"} @@ -408404,21 +427002,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/199/cardiac- [Term] id: MONDO:0022645 name: cardioencephalomyopathy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy" xsd:anyURI {source="GARD:0010673"} [Term] id: MONDO:0022646 name: cardiofacial syndrome short limbs -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs" xsd:anyURI {source="GARD:0001097"} [Term] id: MONDO:0022647 name: cardiomelic syndrome stratton Koehler type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type" xsd:anyURI {source="GARD:0001099"} @@ -408426,7 +427021,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1099/cardiom id: MONDO:0022648 name: cardiomyopathy and deafness due to tRNA lysine gene mutation def: "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." [GARD:0001108] -subset: gard_rare synonym: "cardiomyopathy and deafness due to MTTK gene mutation" RELATED [GARD:0001108, GTR:AN0103739] synonym: "cardiomyopathy and deafness due to tRNA lysine gene mutation" EXACT [GTR:AN0103738] xref: GTR:AN0103738 @@ -408440,7 +427034,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1108/cardiom [Term] id: MONDO:0022650 name: cardiomyopathy diabetes deafness -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy relationship: disease_has_feature MONDO:0005365 ! hearing loss disorder @@ -408465,7 +427058,6 @@ replaced_by: MONDO:0011003 [Term] id: MONDO:0022653 name: cardiomyopathy due to anthracyclines -subset: gard_rare is_a: MONDO:0004994 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiomyopathy property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines" xsd:anyURI {source="GARD:0001107"} @@ -408482,7 +427074,6 @@ relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardio [Term] id: MONDO:0022655 name: cardiomyopathy hypogonadism metabolic anomalies -subset: gard_rare xref: UMLS:C2931289 {source="GARD:0001109", source="MONDO:directSiblingOf"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0019052 ! inborn errors of metabolism @@ -408493,7 +427084,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1109/cardiom [Term] id: MONDO:0022656 name: cardiomyopathy spherocytosis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature HP:0004444 ! Spherocytosis relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy @@ -408502,14 +427092,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1110/cardiom [Term] id: MONDO:0022662 name: carpo tarsal osteolysis recessive -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive" xsd:anyURI {source="GARD:0001129"} [Term] id: MONDO:0022666 name: cassavism -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10442/cassavism" xsd:anyURI {source="GARD:0010442"} @@ -408517,7 +427105,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10442/cassav id: MONDO:0022672 name: autosomal dominant cataract def: "A syndromic cataract that has autosomal dominant inheritance." [https://orcid.org/0000-0001-5208-3432] -subset: gard_rare synonym: "cataract congenital autosomal dominant" RELATED [GARD:0001143] is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0005129 {source="MONDO:Redundant"} ! cataract @@ -408528,7 +427115,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1143/catarac [Term] id: MONDO:0022673 name: autosomal dominant non-nuclear cataract -subset: gard_rare synonym: "autosomal dominant nonnuclear polymorphic congenital cataract" RELATED [GARD:0001144, MESH:C538284] synonym: "cataract congenital dominant non nuclear" RELATED [GARD:0001144] synonym: "cataract, Nonnuclear polymorphic congenital, autosomal dominant" RELATED [MESH:C538284] @@ -408546,7 +427132,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1144/catarac [Term] id: MONDO:0022675 name: cataract skeletal anomalies -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies" xsd:anyURI {source="GARD:0001158"} @@ -408561,7 +427146,6 @@ replaced_by: MONDO:0015567 [Term] id: MONDO:0022682 name: cennamo gangemi syndrome -subset: gard_rare synonym: "hydrocephalus cataract microphthalmos" RELATED [GARD:0001179] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome" xsd:anyURI {source="GARD:0001179"} @@ -408569,7 +427153,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1179/cennamo [Term] id: MONDO:0022685 name: cerebellar agenesis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis" xsd:anyURI {source="GARD:0001187"} @@ -408577,7 +427160,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1187/cerebel id: MONDO:0022687 name: cerebellar degeneration def: "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." [NCIT:C84624] -subset: gard_rare synonym: "Brain degeneration" EXACT [DOID:1443] synonym: "cerebellar Degeneration" EXACT [NCIT:C84624] synonym: "cerebellar degeneration" EXACT [] @@ -408607,7 +427189,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6019/cerebel [Term] id: MONDO:0022691 name: cerebello-olivary atrophy -subset: gard_rare synonym: "Cerebelloolivary atrophy" RELATED [GARD:0001198] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy" xsd:anyURI {source="GARD:0001198"} @@ -408615,14 +427196,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1198/cerebel [Term] id: MONDO:0022693 name: cerebral calcification cerebellar hypoplasia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia" xsd:anyURI {source="GARD:0001201"} [Term] id: MONDO:0022694 name: cerebral calcifications opalescent teeth phosphaturia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia" xsd:anyURI {source="GARD:0001202"} @@ -408630,7 +427209,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1202/cerebra id: MONDO:0022697 name: athetoid cerebral palsy def: "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." [NCIT:C97169] -subset: gard_rare synonym: "ADCP" RELATED ABBREVIATION [Wikipedia:Athetoid_cerebral_palsy] synonym: "athetoid cerebral palsy" EXACT [GARD:0010449] synonym: "athetoid dyskinetic cerebral palsy" EXACT [DOID:0050672] @@ -408648,7 +427226,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10449/cerebr [Term] id: MONDO:0022699 name: cerebral palsy spastic hemiplegic -subset: gard_rare synonym: "spastic hemiplegia cerebral palsy" RELATED [GARD:0010448] synonym: "spastic hemiplegic cerebral palsy" RELATED [GARD:0010448] xref: UMLS:C0837177 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0010448"} @@ -408658,7 +427235,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10448/cerebr [Term] id: MONDO:0022700 name: cerebral palsy spastic monoplegic -subset: gard_rare synonym: "spastic monoplegia cerebral palsy" RELATED [GARD:0010446] synonym: "spastic monoplegic cerebral palsy" RELATED [GARD:0010446] is_a: MONDO:0001169 ! spastic monoplegia @@ -408667,7 +427243,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10446/cerebr [Term] id: MONDO:0022712 name: oculo digital syndrome -subset: gard_rare synonym: "Chemke Oliver Mallek syndrome" RELATED [GARD:0004025] synonym: "Chemke-Oliver-Mallek syndrome" RELATED [GARD:0004025] synonym: "multiple ophthalmic anomalies and digital hypoplasia" RELATED [GARD:0004025, MESH:C535922] @@ -408681,7 +427256,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4025/oculo-d id: MONDO:0022714 name: chester porphyria def: "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." [GARD:0010185] -subset: gard_rare synonym: "PORC" RELATED ABBREVIATION [GARD:0010185] synonym: "porphyria, Chester type" RELATED [GARD:0010185] xref: OMIM:176010 {source="GARD:0010185", source="MONDO:equivalentObsolete"} @@ -408692,7 +427266,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10185/cheste [Term] id: MONDO:0022715 name: Chiari malformation type 3 -subset: gard_rare synonym: "Arnold Chiari malformation type III" RELATED [GARD:0009233] synonym: "Chiari malformation type III" RELATED [GARD:0009233] synonym: "Chiari type III malformation" RELATED [GARD:0009233] @@ -408704,7 +427277,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9233/chiari- [Term] id: MONDO:0022716 name: Chiari malformation type 4 -subset: gard_rare synonym: "Arnold Chiari malformation type IV" RELATED [GARD:0009234] synonym: "Chiari malformation type IV" RELATED [GARD:0009234] synonym: "Chiari type IV malformation" RELATED [GARD:0009234] @@ -408730,7 +427302,6 @@ replaced_by: MONDO:0015425 [Term] id: MONDO:0022729 name: chondrodysplasia punctata with steroid sulfatase deficiency -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0022723 {source="https://orcid.org/0000-0001-5208-3432"} ! chondrodysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency" xsd:anyURI {source="GARD:0006050"} @@ -408739,7 +427310,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6050/chondro id: MONDO:0022732 name: obsolete chorea minor comment: obsoleted in source -subset: gard_rare xref: UMLS:C0152113 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0006057"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2749" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6057/chorea-minor" xsd:anyURI {source="GARD:0006057"} @@ -408748,21 +427318,18 @@ is_obsolete: true [Term] id: MONDO:0022733 name: choreoacanthocytosis amyotrophic -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic" xsd:anyURI {source="GARD:0001306"} [Term] id: MONDO:0022734 name: chorioretinopathy dominant form microcephaly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly" xsd:anyURI {source="GARD:0001308"} [Term] id: MONDO:0022735 name: choroid plexus cyst -subset: gard_rare synonym: "choroid plexus cyst" EXACT [] synonym: "CPC - choroid plexus cyst" RELATED [] xref: NCIT:C4351 {source="MONDO:equivalentTo"} @@ -408791,7 +427358,6 @@ intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation id: MONDO:0022737 name: choroideremia hypopituitarism def: "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." [] -subset: gard_rare synonym: "choroideraemia co-occurrent with hypopituitarism" RELATED [] synonym: "choroideraemia hypopituitarism" RELATED [] synonym: "choroideremia co-occurrent with hypopituitarism" RELATED [] @@ -408805,14 +427371,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1312/choroid [Term] id: MONDO:0022739 name: Christian demyer franken syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome" xsd:anyURI {source="GARD:0001315"} [Term] id: MONDO:0022740 name: Christian Johnson angenieta syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome" xsd:anyURI {source="GARD:0001316"} @@ -408840,7 +427404,6 @@ intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation [Term] id: MONDO:0022745 name: mixed dust pneumoconiosis -subset: gard_rare synonym: "labrador lung" RELATED [GARD:0008374] synonym: "Mixed dust pneumoconiosis" RELATED [UMLS:C0264436] synonym: "mixed dust pneumoconiosis" EXACT [] @@ -408896,6 +427459,7 @@ id: MONDO:0022754 name: chromosome 17p deletion def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." [NCIT:C36499] subset: disease_grouping +subset: gard_rare {source="GARD:20817"} subset: ordo_group_of_disorders {source="Orphanet:261965"} synonym: "17p deletion" RELATED [GARD:0006075] synonym: "17p monosomy" RELATED [GARD:0006075] @@ -408914,6 +427478,7 @@ synonym: "partial monosomy 17p" RELATED [MESH:C538045] synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965] synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895] synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965] +xref: GARD:20817 {source="Orphanet:261965"} xref: ICD10CM:Q93.5 {source="Orphanet:261965/attributed", source="Orphanet:261965/ntbt", source="Orphanet:261965"} xref: MESH:C538045 {source="MONDO:equivalentTo"} xref: NCIT:C36499 {source="MONDO:relatedTo"} @@ -408930,7 +427495,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0022755 name: chromosome 18 mosaic monosomy -subset: gard_rare synonym: "monosomy 18 mosaicism" RELATED [GARD:0003726, MESH:C536581] synonym: "Mosaic monosomy 18" RELATED [GARD:0003726] synonym: "Mosaic monosomy chromosome 18" RELATED [GARD:0003726] @@ -408948,7 +427512,7 @@ id: MONDO:0022756 name: chromosome 1q deletion def: "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0008669] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20821"} subset: ordo_group_of_disorders {source="Orphanet:262001"} synonym: "1q deletion" RELATED [GARD:0008669] synonym: "1q monosomy" RELATED [GARD:0008669] @@ -408960,6 +427524,7 @@ synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORUL synonym: "partial monosomy 1q" RELATED [GARD:0008669] synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001] synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001] +xref: GARD:20821 {source="Orphanet:262001"} xref: ICD10CM:Q93.5 {source="Orphanet:262001/attributed", source="Orphanet:262001/ntbt", source="Orphanet:262001"} xref: Orphanet:262001 {source="MONDO:equivalentTo"} xref: UMLS:CN072190 {source="MONDO:equivalentTo"} @@ -408974,7 +427539,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8669/chromos id: MONDO:0022757 name: chromosome 20 trisomy def: "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization." [GARD:0005332] -subset: gard_rare synonym: "mosaic trisomy 20" RELATED [GARD:0005332] synonym: "trisomy 20" RELATED [GARD:0005332] synonym: "trisomy 20 mosaicism" RELATED [GARD:0005332] @@ -409005,7 +427569,6 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0022759 name: trisomy 22 def: "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." [GARD:0005335] -subset: gard_rare synonym: "chromosome 22 trisomy" RELATED [GARD:0005335] xref: MESH:C536799 {source="MONDO:equivalentTo"} xref: SCTID:205655003 {source="MONDO:equivalentTo"} @@ -409019,7 +427582,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5335/trisomy id: MONDO:0022760 name: chromosome 22q deletion subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:20841"} synonym: "22q deletion" EXACT [GARD:0008668] synonym: "22q monosomy" EXACT [GARD:0008668] synonym: "deletion 22q" EXACT [GARD:0008668] @@ -409030,6 +427593,7 @@ synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORU synonym: "partial monosomy 22q" EXACT [GARD:0008668] synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182] synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182] +xref: GARD:20841 {source="Orphanet:262182"} xref: ICD10CM:Q93.5 {source="Orphanet:262182/attributed", source="Orphanet:262182/ntbt", source="Orphanet:262182"} xref: Orphanet:262182 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 ! chromosomal disorder @@ -409052,6 +427616,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0022762 name: chromosome 4 short arm deletion subset: disease_grouping +subset: gard_rare {source="GARD:20808"} synonym: "4p deletion" EXACT [GARD:0006090] synonym: "4p monosomy" EXACT [GARD:0006090] synonym: "chromosome 4p deletion" EXACT [MESH:C537637] @@ -409063,6 +427628,7 @@ synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORU synonym: "partial monosomy 4p" EXACT [GARD:0006090] synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884] synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884] +xref: GARD:20808 {source="Orphanet:261884"} xref: ICD10CM:Q93.3 {source="MONDO:equivalentTo", source="Orphanet:261884/specific", source="Orphanet:261884", source="Orphanet:261884/e"} xref: MESH:C537637 {source="MONDO:equivalentTo"} xref: Orphanet:261884 {source="MONDO:equivalentTo"} @@ -409075,35 +427641,30 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0022765 name: chronic demyelinizing neuropathy with IgM monoclonal -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal" xsd:anyURI {source="GARD:0001352"} [Term] id: MONDO:0022768 name: chronic polyradiculoneuritis -subset: gard_rare is_a: MONDO:0006915 ! polyradiculoneuropathy property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis" xsd:anyURI {source="GARD:0001355"} [Term] id: MONDO:0022769 name: ciliary dyskinesia-bronchiectasis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis" xsd:anyURI {source="GARD:0001362"} [Term] id: MONDO:0022770 name: circumscribed cutaneous aplasia of the vertex -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex" xsd:anyURI {source="GARD:0001365"} [Term] id: MONDO:0022771 name: circumscribed disseminated keratosis Jadassohn lew type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type" xsd:anyURI {source="GARD:0001366"} @@ -409123,84 +427684,72 @@ is_a: MONDO:0005055 {source="NCIT:C9112/inferred"} ! Kaposi's sarcoma [Term] id: MONDO:0022775 name: cleft lip and palate malrotation cardiopathy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy" xsd:anyURI {source="GARD:0001371"} [Term] id: MONDO:0022776 name: cleft lip and/or palate with mucous cysts of lower -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower" xsd:anyURI {source="GARD:0001372"} [Term] id: MONDO:0022777 name: cleft lip palate dysmorphism kumar type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type" xsd:anyURI {source="GARD:0001375"} [Term] id: MONDO:0022778 name: cleft lip palate intellectual disability corneal opacity -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity" xsd:anyURI {source="GARD:0001380"} [Term] id: MONDO:0022779 name: cleft lip palate oligodontia syndactyly pili torti -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti" xsd:anyURI {source="GARD:0001381"} [Term] id: MONDO:0022780 name: cleft lip palate pituitary deficiency -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency" xsd:anyURI {source="GARD:0001382"} [Term] id: MONDO:0022781 name: cleft lip palate-tetraphocomelia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia" xsd:anyURI {source="GARD:0001383"} [Term] id: MONDO:0022782 name: cleft lower lip cleft lateral canthi chorioretinal -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal" xsd:anyURI {source="GARD:0001386"} [Term] id: MONDO:0022785 name: cleft palate cardiac defect ectrodactyly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly" xsd:anyURI {source="GARD:0001387"} [Term] id: MONDO:0022786 name: cleft palate colobomata radial synostosis deafness -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness" xsd:anyURI {source="GARD:0001388"} [Term] id: MONDO:0022787 name: cleft palate heart disease polydactyly absent tibia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia" xsd:anyURI {source="GARD:0001389"} [Term] id: MONDO:0022790 name: cleft tongue -subset: gard_rare synonym: "bifid tongue" RELATED [GARD:0001395] synonym: "cleft tongue syndrome" RELATED [GARD:0001395] xref: UMLS:test {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001395"} @@ -409210,7 +427759,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1395/cleft-t [Term] id: MONDO:0022791 name: coarse face hypotonia constipation -subset: gard_rare synonym: "Sondheimer syndrome" RELATED [GARD:0001412] xref: Orphanet:1967 {source="GARD:0001412"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -409220,7 +427768,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1412/coarse- id: MONDO:0022792 name: coccygodynia def: "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." [GARD:0005168] -subset: gard_rare synonym: "coccydynia" RELATED [GARD:0005168] xref: UMLS:C0009193 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005168"} is_a: MONDO:0700057 ! neurological pain disorder @@ -409249,7 +427796,6 @@ consider: MONDO:0700035 [Term] id: MONDO:0022795 name: deficiency of coenzyme q cytochrome c reductase -subset: gard_rare synonym: "coenzyme Q cytochrome c reductase deficiency of" RELATED [GARD:0001419] is_a: MONDO:0019052 ! inborn errors of metabolism property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of" xsd:anyURI {source="GARD:0001419"} @@ -409257,7 +427803,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1419/coenzym [Term] id: MONDO:0022798 name: Cohen lockood wyborney syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome" xsd:anyURI {source="GARD:0001423"} @@ -409265,7 +427810,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1423/cohen-l id: MONDO:0022799 name: cold urticaria def: "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." [GARD:0006131] -subset: gard_rare synonym: "cold contact urticaria" RELATED [GARD:0006131] synonym: "primary idiopathic cold urticaria" RELATED [GARD:0006131] synonym: "urticaria idiopathic cold" RELATED [GARD:0006131] @@ -409280,7 +427824,7 @@ id: MONDO:0022800 name: type 2 collagenopathy def: "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." [MONDO:patterns/disease_series_by_gene] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:19186"} subset: ordo_group_of_disorders {source="Orphanet:93421"} synonym: "cartilage collagen" RELATED [GARD:0009246] synonym: "COL2A1" RELATED ABBREVIATION [GARD:0009246] @@ -409288,6 +427832,7 @@ synonym: "COL2A1 disease or disorder" EXACT [MONDO:design_pattern, MONDO:pattern synonym: "collagen II" RELATED [GARD:0009246] synonym: "collagenopathy type 2 alpha 1" EXACT [https://orcid.org/0000-0001-8612-1062] synonym: "disease or disorder caused by mutation in COL2A1" EXACT [MONDO:patterns/disease_series_by_gene] +xref: GARD:19186 {source="Orphanet:93421"} xref: HGNC:2200 {source="GARD:0009246"} xref: MESH:C535964 {source="MONDO:equivalentTo"} xref: Orphanet:93421 {source="MONDO:equivalentTo"} @@ -409306,7 +427851,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9246/collage [Term] id: MONDO:0022802 name: Collins-Sakati syndrome -subset: gard_rare synonym: "Collins Sakati syndrome" RELATED [GARD:0001429] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome" xsd:anyURI {source="GARD:0001429"} @@ -409314,35 +427858,30 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1429/collins [Term] id: MONDO:0022803 name: coloboma porencephaly hydronephrosis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis" xsd:anyURI {source="GARD:0001439"} [Term] id: MONDO:0022804 name: colobomata unilobar lung heart defect -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect" xsd:anyURI {source="GARD:0001442"} [Term] id: MONDO:0022805 name: colonic malakoplakia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia" xsd:anyURI {source="GARD:0006137"} [Term] id: MONDO:0022809 name: Colver Steer Godman syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome" xsd:anyURI {source="GARD:0001448"} [Term] id: MONDO:0022810 name: Combarros Calleja Leno syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome" xsd:anyURI {source="GARD:0001449"} @@ -409350,7 +427889,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1449/combarr id: MONDO:0022812 name: complement receptor deficiency def: "A disorder with basis in disruption of a complement receptor." [MONDO:cjm] -subset: gard_rare synonym: "complement receptor deficiency" EXACT [] xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:234628004 {source="MONDO:equivalentTo"} @@ -409363,7 +427901,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9527/complem [Term] id: MONDO:0022815 name: congenital absence of the sternocleidomastoid muscle -subset: gard_rare xref: MESH:C535977 {source="MONDO:equivalentTo"} xref: UMLS:C2931075 {source="MONDO:equivalentTo", source="GARD:0009972"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -409374,7 +427911,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9972/congeni [Term] id: MONDO:0022817 name: congenital amputation -subset: gard_rare xref: UMLS:C1857583 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001471"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409384,7 +427920,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1471/congeni [Term] id: MONDO:0022818 name: congenital aneurysms of the great vessels -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409393,7 +427928,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1472/congeni [Term] id: MONDO:0022819 name: congenital arteriovenous shunt -subset: gard_rare xref: UMLS:C0332965 {source="GARD:0006150", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409403,7 +427937,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6150/congeni [Term] id: MONDO:0022820 name: congenital articular rigidity -subset: gard_rare xref: UMLS:C0595987 {source="GARD:0001473", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity" xsd:anyURI {source="GARD:0001473"} @@ -409411,7 +427944,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1473/congeni [Term] id: MONDO:0022821 name: congenital benign spinal muscular atrophy dominant -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409420,7 +427952,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1474/congeni [Term] id: MONDO:0022822 name: congenital cardiovascular shunt -subset: gard_rare xref: UMLS:C0596366 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0006154"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt" xsd:anyURI {source="GARD:0006154"} @@ -409428,7 +427959,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6154/congeni [Term] id: MONDO:0022823 name: congenital contractures -subset: gard_rare xref: UMLS:C0332878 {source="GARD:0001477", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures" xsd:anyURI {source="GARD:0001477"} @@ -409436,16 +427966,16 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1477/congeni [Term] id: MONDO:0022824 name: congenital craniosynostosis maternal hyperthyroiditis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis" xsd:anyURI {source="GARD:0001478"} [Term] id: MONDO:0022825 name: congenital cystic eye -subset: gard_rare +subset: gard_rare {source="GARD:10617"} subset: ordo_morphological_anomaly synonym: "CCE" RELATED ABBREVIATION [GARD:0010617] +xref: GARD:10617 {source="Orphanet:519384"} xref: Orphanet:519384 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409455,7 +427985,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10617/congen [Term] id: MONDO:0022826 name: congenital cystic eye multiple ocular and intracranial anomalies -subset: gard_rare is_a: MONDO:0022825 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital cystic eye relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409464,7 +427993,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1479/congeni [Term] id: MONDO:0022831 name: congenital heart disease ptosis hypodontia craniostosis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409473,7 +428001,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1483/congeni [Term] id: MONDO:0022832 name: congenital heart disease radio ulnar synostosis intellectual disability -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409482,7 +428009,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1484/congeni [Term] id: MONDO:0022839 name: congenital human immunodeficiency virus -subset: gard_rare synonym: "congenital HIV" RELATED [GARD:0010328] synonym: "neonatal HIV" RELATED [GARD:0010328] synonym: "neonatal human immunodeficiency virus" RELATED [GARD:0010328] @@ -409493,7 +428019,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10328/congen [Term] id: MONDO:0022841 name: congenital hypotrichosis milia -subset: gard_rare is_a: MONDO:0003037 {source="MONDO:cjm"} ! hypotrichosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409502,7 +428027,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1488/congeni [Term] id: MONDO:0022843 name: congenital mumps -subset: gard_rare is_a: MONDO:0000989 ! mumps infectious disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409512,7 +428036,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1498/congeni [Term] id: MONDO:0022846 name: congenital nonhemolytic jaundice -subset: gard_rare xref: UMLS:C0017551 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0006177"} is_a: MONDO:0010634 ! jaundice, familial obstructive, of infancy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409522,7 +428045,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6177/congeni [Term] id: MONDO:0022849 name: congenital stenosis of cervical medullary canal -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal" xsd:anyURI {source="GARD:0001504"} @@ -409536,10 +428058,11 @@ replaced_by: MONDO:0009114 id: MONDO:0022851 name: Dennis-Fairhurst-Moore syndrome def: "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:8585575] -subset: gard_rare +subset: gard_rare {source="GARD:290"} subset: n_of_one synonym: "Dennis Fairhurst Moore syndrome" RELATED [GARD:0000290] synonym: "Hallermam Streiff like syndrome" RELATED [GARD:0000290, MESH:C538210] +xref: GARD:290 {source="Orphanet:2109"} xref: MESH:C538210 {source="MONDO:equivalentTo"} xref: Orphanet:2109 {source="MONDO:equivalentTo"} xref: UMLS:C2931775 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0000290"} @@ -409550,7 +428073,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/290/dennis-f [Term] id: MONDO:0022854 name: congenital unilateral pulmonary hypoplasia -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409559,7 +428081,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1507/congeni [Term] id: MONDO:0022855 name: congenital vagal hyperreflexivity -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409574,7 +428095,6 @@ replaced_by: MONDO:0019943 [Term] id: MONDO:0022858 name: continuous spike-wave during slow sleep syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome" xsd:anyURI {source="GARD:0001513"} @@ -409582,7 +428102,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1513/continu id: MONDO:0022859 name: cor biloculare def: "A congenital anatomic anomaly in which the heart has only two chambers." [NCIT:C124591] -subset: gard_rare synonym: "absence of atrial and ventricular septa" RELATED [] synonym: "Cor Biloculare" EXACT [NCIT:C124591] synonym: "cor biloculare" EXACT [] @@ -409598,35 +428117,30 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6193/cor-bil [Term] id: MONDO:0022862 name: cormier rustin munnich syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome" xsd:anyURI {source="GARD:0001523"} [Term] id: MONDO:0022863 name: corneal crystals myopathy neuropathy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy" xsd:anyURI {source="GARD:0001526"} [Term] id: MONDO:0022865 name: corneal dystrophy ichthyosis microcephaly intellectual disability -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation" xsd:anyURI {source="GARD:0001528"} [Term] id: MONDO:0022866 name: corneal dystrophy pigmentary anomaly malabsorption -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption" xsd:anyURI {source="GARD:0001530"} [Term] id: MONDO:0022869 name: coronary arteries congenital malformation -subset: gard_rare xref: UMLS:C0158623 {source="GARD:0001534", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -409636,7 +428150,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1534/coronar [Term] id: MONDO:0022871 name: corpus callosum agenesis of blepharophimosis robin type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_location UBERON:0002336 ! corpus callosum property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type" xsd:anyURI {source="GARD:0001538"} @@ -409644,7 +428157,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1538/corpus- [Term] id: MONDO:0022872 name: corpus callosum dysgenesis X-linked recessive -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_location UBERON:0002336 ! corpus callosum property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive" xsd:anyURI {source="GARD:0001543"} @@ -409652,7 +428164,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1543/corpus- [Term] id: MONDO:0022873 name: corpus callosum dysgenesis cleft spasm -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_location UBERON:0002336 ! corpus callosum property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm" xsd:anyURI {source="GARD:0001541"} @@ -409660,7 +428171,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1541/corpus- [Term] id: MONDO:0022874 name: corpus callosum dysgenesis hypopituitarism -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_location UBERON:0002336 ! corpus callosum property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism" xsd:anyURI {source="GARD:0001542"} @@ -409668,14 +428178,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1542/corpus- [Term] id: MONDO:0022875 name: cortada Koussef Matsumoto syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome" xsd:anyURI {source="GARD:0001546"} [Term] id: MONDO:0022876 name: Cortes Lacassie syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome" xsd:anyURI {source="GARD:0001547"} @@ -409690,14 +428198,12 @@ replaced_by: MONDO:0022308 [Term] id: MONDO:0022883 name: craniofacial and skeletal defects -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects" xsd:anyURI {source="GARD:0001570"} [Term] id: MONDO:0022884 name: craniofacial dysostosis arthrogryposis progeroid appearence -subset: gard_rare synonym: "Van Biervliet Hendrickx Van Ertbruggen syndrome" RELATED [GARD:0001573] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence" xsd:anyURI {source="GARD:0001573"} @@ -409705,21 +428211,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1573/craniof [Term] id: MONDO:0022887 name: craniofrontonasal syndrome Teebi type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type" xsd:anyURI {source="GARD:0001579"} [Term] id: MONDO:0022888 name: craniostenosis cataract -subset: gard_rare is_a: MONDO:0005129 {source="https://orcid.org/0000-0001-5208-3432"} ! cataract property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract" xsd:anyURI {source="GARD:0001584"} [Term] id: MONDO:0022889 name: craniostenosis with congenital heart disease intellectual disability -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -409728,70 +428231,60 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1585/cranios [Term] id: MONDO:0022890 name: craniosynostosis Fontaine type -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type" xsd:anyURI {source="GARD:0001595"} [Term] id: MONDO:0022891 name: craniosynostosis Maroteaux Fonfria type -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type" xsd:anyURI {source="GARD:0001598"} [Term] id: MONDO:0022892 name: craniosynostosis alopecia brain defect -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect" xsd:anyURI {source="GARD:0001586"} [Term] id: MONDO:0022893 name: craniosynostosis arthrogryposis cleft palate -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate" xsd:anyURI {source="GARD:0001587"} [Term] id: MONDO:0022894 name: craniosynostosis autosomal dominant -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant" xsd:anyURI {source="GARD:0001588"} [Term] id: MONDO:0022895 name: craniosynostosis cleft lip palate arthrogryposis -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis" xsd:anyURI {source="GARD:0001590"} [Term] id: MONDO:0022896 name: craniosynostosis contractures cleft -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft" xsd:anyURI {source="GARD:0001591"} [Term] id: MONDO:0022897 name: craniosynostosis exostoses nevus epibulbar dermoid -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid" xsd:anyURI {source="GARD:0001593"} [Term] id: MONDO:0022898 name: craniosynostosis intellectual disability heart defects -subset: gard_rare is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects" xsd:anyURI {source="GARD:0001600"} [Term] id: MONDO:0022899 name: crawfurd syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome" xsd:anyURI {source="GARD:0001607"} @@ -409799,7 +428292,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1607/crawfur id: MONDO:0022900 name: athyreotic congenital hypothyroidism def: "Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" [Wikipedia:Congenital_hypothyroidism] -subset: gard_rare synonym: "cretinism athyreotic" RELATED DEPRECATED [GARD:0001610] is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0018612 {source="MONDO:Redundant"} ! congenital hypothyroidism @@ -409811,7 +428303,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1610/cretini id: MONDO:0022901 name: Crohn disease of the esophagus def: "An Crohn disease involving a pathogenic inflammatory response in the esophagus." [MONDO:patterns/specific_inflammatory_disease_by_site] -subset: gard_rare synonym: "Crohn's disease of the esophagus" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Crohn's disease of the oesophagus" EXACT OMO:0003005 [] xref: UMLS:C0341116 {source="MONDO:equivalentTo", source="GARD:0000203"} @@ -409821,7 +428312,6 @@ intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus [Term] id: MONDO:0022904 name: cryofibrinogenemia -subset: gard_rare synonym: "cryofibrinogenemia" EXACT [] xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536218 {source="MONDO:equivalentTo"} @@ -409833,28 +428323,24 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9908/cryofib [Term] id: MONDO:0022907 name: cutaneous sclerosis -subset: gard_rare is_a: MONDO:0005093 ! skin disorder property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis" xsd:anyURI {source="GARD:0009752"} [Term] id: MONDO:0022908 name: cutis gyratum acanthosis nigricans craniosynostosis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis" xsd:anyURI {source="GARD:0001635"} [Term] id: MONDO:0022909 name: cutis laxa osteoporosis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis" xsd:anyURI {source="GARD:0001637"} [Term] id: MONDO:0022912 name: cutis verticis gyrata mental deficiency -subset: gard_rare xref: UMLS:C1857444 {source="MONDO:relatedTo", source="GARD:0001644"} is_a: MONDO:0019033 ! primary cutis verticis gyrata property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency" xsd:anyURI {source="GARD:0001644"} @@ -409862,7 +428348,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1644/cutis-v [Term] id: MONDO:0022913 name: cutler bass Romshe syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome" xsd:anyURI {source="GARD:0001646"} @@ -409892,7 +428377,6 @@ id: MONDO:0022919 name: cytokine receptor deficiency def: "A disease that has its basis in the disruption of cytokine receptor activity." [MONDO:patterns/basis_in_disruption_of_process] comment: Editor note: todo, align -subset: gard_rare synonym: "cytokine receptor activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of cytokine receptor activity" EXACT [MONDO:patterns/basis_in_disruption_of_process] is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder @@ -409903,7 +428387,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9530/cytokin [Term] id: MONDO:0022921 name: obsolete short stature-microcephaly-heart defect syndrome -subset: gard_rare synonym: "d'ercole syndrome" RELATED [GARD:0000233, Orphanet:2861] synonym: "short stature microcephaly heart defect" RELATED [GARD:0000233] xref: Orphanet:2861 {source="MONDO:obsoleteEquivalentObsolete"} @@ -409921,7 +428404,6 @@ replaced_by: MONDO:0016350 [Term] id: MONDO:0022930 name: Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia -subset: gard_rare synonym: "Aughton sloan Milad syndrome" EXACT [GARD:0000137] xref: MESH:C538340 {source="MONDO:equivalentTo"} xref: UMLS:C2931823 {source="MONDO:equivalentTo", source="GARD:0000137"} @@ -409933,7 +428415,6 @@ id: MONDO:0022932 name: Davenport-Donlan syndrome def: "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:526579] comment: Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579 -subset: gard_rare subset: n_of_one synonym: "Davenport Donlan syndrome" RELATED [GARD:0001672] synonym: "dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" RELATED [GARD:0001672, MESH:C535988, PMID:526579] @@ -409948,7 +428429,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1672/davenpo [Term] id: MONDO:0022934 name: Davis Lafer syndrome -subset: gard_rare synonym: "intellectual disability unusual facies Davis Lafer type" RELATED [GARD:0001674, MESH:C535989] synonym: "Lafer Davis syndrome" RELATED [GARD:0001674, MESH:C535989] synonym: "mental retardation unusual facies Davis Lafer type" RELATED DEPRECATED [GARD:0001674, MESH:C535989] @@ -409972,7 +428452,6 @@ relationship: disease_has_feature MONDO:0002289 {source="MESH:C535991"} ! iris d [Term] id: MONDO:0022937 name: deafness conductive stapedial ear malformation facial palsy -subset: gard_rare xref: UMLS:C1852292 {source="GARD:0001684", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy" xsd:anyURI {source="GARD:0001684"} @@ -409980,7 +428459,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1684/deafnes [Term] id: MONDO:0022938 name: deafness goiter stippled epiphyses -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses" xsd:anyURI {source="GARD:0001689"} @@ -410001,28 +428479,24 @@ replaced_by: MONDO:0022939 [Term] id: MONDO:0022941 name: deafness hypospadias metacarpal and metatarsal syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome" xsd:anyURI {source="GARD:0001692"} [Term] id: MONDO:0022942 name: deafness mesenteric diverticula of small bowel neuropathy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy" xsd:anyURI {source="GARD:0001693"} [Term] id: MONDO:0022945 name: deafness peripheral neuropathy arterial disease -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease" xsd:anyURI {source="GARD:0001701"} [Term] id: MONDO:0022946 name: deafness progressive cataract autosomal dominant -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant" xsd:anyURI {source="GARD:0001702"} @@ -410040,7 +428514,6 @@ relationship: disease_has_feature MONDO:0019269 {source="MESH:C538206"} ! ichthy [Term] id: MONDO:0022949 name: defective apolipoprotein b-100 -subset: gard_rare is_a: MONDO:0019052 ! inborn errors of metabolism property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100" xsd:anyURI {source="GARD:0001720"} @@ -410048,7 +428521,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1720/defecti id: MONDO:0022953 name: delta-1-pyrroline-5-carboxylate dehydrogenase deficiency def: "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." [MONDO:patterns/basis_in_disruption_of_process] -subset: gard_rare synonym: "1-pyrroline-5-carboxylate dehydrogenase activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" EXACT [MONDO:patterns/basis_in_disruption_of_process] is_a: MONDO:0019052 ! inborn errors of metabolism @@ -410059,7 +428531,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1798/delta-1 [Term] id: MONDO:0022960 name: dermatocardioskeletal syndrome boronne type -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type" xsd:anyURI {source="GARD:0001812"} @@ -410067,7 +428538,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1812/dermato id: MONDO:0022963 name: desmoplastic infantile astrocytoma def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C9476] -subset: gard_rare synonym: "Desmoplastic astrocytoma of infancy" EXACT [NCIT:C9476] synonym: "Desmoplastic infantile astrocytoma" EXACT [NCIT:C9476] synonym: "DIA" EXACT ABBREVIATION [GARD:0009617, NCIT:C9476, ONCOTREE:DIA] @@ -410083,7 +428553,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9617/desmopl id: MONDO:0022965 name: desmoplastic infantile ganglioglioma def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C4738] -subset: gard_rare synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738] synonym: "DIG" EXACT ABBREVIATION [GARD:0008648, NCIT:C4738, ONCOTREE:DIG] xref: DOID:0081259 {source="MONDO:equivalentTo"} @@ -410098,7 +428567,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8648/desmopl id: MONDO:0022968 name: dextrocardia with situs inversus def: "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." [GARD:0006268] -subset: gard_rare synonym: "situs inversus totalis" RELATED [GARD:0006268] xref: UMLS:C1395317 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0006268"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -410109,7 +428577,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6268/dextroc [Term] id: MONDO:0022971 name: diabetes persistent mullerian ducts -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts" xsd:anyURI {source="GARD:0001840"} @@ -410117,7 +428584,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1840/diabete id: MONDO:0022972 name: diabetic mastopathy def: "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." [GARD:0008322] -subset: gard_rare synonym: "diabetic fibrous breast disease" RELATED [GARD:0008322] synonym: "diabetic fibrous mastopathy" RELATED [GARD:0008322] synonym: "lymphocytic mastitis" RELATED [GARD:0008322] @@ -410132,42 +428598,36 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8322/diabeti [Term] id: MONDO:0022975 name: diaphragmatic agenesis radial aplasia omphalocele -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele" xsd:anyURI {source="GARD:0001843"} [Term] id: MONDO:0022977 name: diaphragmatic hernia exomphalos corpus callosum agenesis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0001846"} [Term] id: MONDO:0022978 name: diaphragmatic hernia upper limb defects -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects" xsd:anyURI {source="GARD:0001847"} [Term] id: MONDO:0022981 name: die Smulders droog van dijk syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome" xsd:anyURI {source="GARD:0001857"} [Term] id: MONDO:0022982 name: die Smulders Vles Fryns syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome" xsd:anyURI {source="GARD:0001858"} [Term] id: MONDO:0022983 name: Dieterich disease -subset: gard_rare synonym: "avascular necrosis of the metacarpal head" RELATED [GARD:0000204, MESH:C536172] synonym: "Dieterich disease" EXACT [GARD:0000204, MESH:C536172] synonym: "Dieterich's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] @@ -410179,7 +428639,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/204/dieteric [Term] id: MONDO:0022985 name: diffuse cavernous hemangioma of the rectum -subset: gard_rare synonym: "cavernous haemangioma of the rectum" RELATED [GARD:0010750] is_a: MONDO:0006500 {source="https://orcid.org/0000-0001-5208-3432"} ! hemangioma relationship: disease_has_location UBERON:0001052 ! rectum @@ -410189,10 +428648,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10750/diffus id: MONDO:0022986 name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia def: "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." [NCIT:C7437] -subset: gard_rare +subset: gard_rare {source="GARD:10780"} synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [NCIT:C7437] synonym: "DIP-NECH" EXACT [NCIT:C7437] synonym: "DIPNECH" EXACT ABBREVIATION [GARD:0010780, NCIT:C7437] +xref: GARD:10780 {source="Orphanet:617916"} xref: NCIT:C7437 {source="MONDO:equivalentTo"} xref: Orphanet:617916 {source="MONDO:equivalentTo"} xref: UMLS:C1333291 {source="MONDO:equivalentTo", source="NCIT:C7437"} @@ -410203,14 +428663,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10780/diffus [Term] id: MONDO:0022989 name: diomedi bernardi placidi syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome" xsd:anyURI {source="GARD:0001870"} [Term] id: MONDO:0022990 name: diphallus rachischisis imperforate anus -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus" xsd:anyURI {source="GARD:0001873"} @@ -410218,7 +428676,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1873/diphall id: MONDO:0022991 name: diploid-triploid mosaicism def: "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells." [GARD:0010715] -subset: gard_rare synonym: "diploid/triploid mixoploidy" RELATED [GARD:0010715] synonym: "diploid/triploid mosaicism" RELATED [GARD:0010715] synonym: "Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia" RELATED [GARD:0010715] @@ -410236,7 +428693,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10715/diploi id: MONDO:0022993 name: dipsogenic diabetes insipidus def: "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." [NCIT:C129735] -subset: gard_rare synonym: "Dipsogenic diabetes insipidus" EXACT [NCIT:C129735] synonym: "dipsogenic diabetes insipidus" EXACT [] synonym: "primary polydipsia" BROAD [GARD:0010703, NCIT:C129735] @@ -410263,7 +428719,6 @@ is_a: MONDO:0019942 {source="MONDO:cjm"} ! distal arthrogryposis [Term] id: MONDO:0022999 name: distichiasis heart congenital anomalies -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -410280,7 +428735,6 @@ replaced_by: MONDO:0017980 [Term] id: MONDO:0023002 name: double discordia -subset: gard_rare synonym: "atrio-ventricular and ventriculo-arterial double Discordia" RELATED [GARD:0001905] synonym: "corrected transposition" RELATED [GARD:0001905] xref: UMLS:C0332941 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001905"} @@ -410291,7 +428745,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1905/double- id: MONDO:0023003 name: double fingernail of fifth finger comment: Editor note: consider making a grouping class with MONDO:0007469 -subset: gard_rare is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_location UBERON:0003625 ! manual digit 5 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger" xsd:anyURI {source="GARD:0001906"} @@ -410299,14 +428752,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1906/double- [Term] id: MONDO:0023005 name: double uterus-hemivagina-renal agenesis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis" xsd:anyURI {source="GARD:0001910"} [Term] id: MONDO:0023006 name: doxorubicin induced cardiomyopathy -subset: gard_rare is_a: MONDO:0004994 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiomyopathy property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy" xsd:anyURI {source="GARD:0006285"} @@ -410314,7 +428765,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6285/doxorub id: MONDO:0023007 name: Drachtman Weinblatt Sitarz syndrome def: "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." [https://www.dovemed.com/diseases-conditions/drachtman-weinblatt-sitarz-syndrome/, PMID:2264478] -subset: gard_rare synonym: "Drachtman Weinblatt Sitarz syndrome" EXACT [MONDO:0023008] synonym: "marrow hypoplasia associated with congenital neurologic anomalies" RELATED [GARD:0001913, MESH:C535603] xref: MESH:C535603 {source="MONDO:equivalentTo"} @@ -410332,7 +428782,6 @@ replaced_by: MONDO:0023007 [Term] id: MONDO:0023011 name: Wilson-Mikity syndrome -subset: gard_rare synonym: "Pulmonary dysmaturity" RELATED [UMLS:C0270171] synonym: "pulmonary dysmaturity" RELATED [] synonym: "Pulmonary dysmaturity syndrome" RELATED [GARD:0010495] @@ -410346,7 +428795,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0010495"} ! rare [Term] id: MONDO:0023013 name: Duker-Weiss-Siber syndrome -subset: gard_rare synonym: "Duker Weiss Siber syndrome" RELATED [GARD:0001918] synonym: "microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism" RELATED [GARD:0001918] synonym: "microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism" RELATED DEPRECATED [GARD:0001918] @@ -410361,56 +428809,48 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1918/duker-w [Term] id: MONDO:0023015 name: duodenal atresia tetralogy of fallot -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot" xsd:anyURI {source="GARD:0001919"} [Term] id: MONDO:0023016 name: duplication of leg mirror foot -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot" xsd:anyURI {source="GARD:0001976"} [Term] id: MONDO:0023017 name: duplication of the thumb unilateral biphalangeal -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal" xsd:anyURI {source="GARD:0001977"} [Term] id: MONDO:0023018 name: dupont sellier chochillon syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome" xsd:anyURI {source="GARD:0001983"} [Term] id: MONDO:0023019 name: dwarfism bluish sclerae -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae" xsd:anyURI {source="GARD:0001984"} [Term] id: MONDO:0023020 name: dwarfism deafness retinitis pigmentosa -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa" xsd:anyURI {source="GARD:0001985"} [Term] id: MONDO:0023021 name: dwarfism lethal type advanced bone age -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age" xsd:anyURI {source="GARD:0001986"} [Term] id: MONDO:0023022 name: dwarfism thin bones multiple fractures -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures" xsd:anyURI {source="GARD:0001992"} @@ -410429,7 +428869,6 @@ is_a: MONDO:0004926 {source="NCIT:C116819", source="UMLS:C0270178"} ! dacryocyst [Term] id: MONDO:0023030 name: dysmorphism cleft palate loose skin -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin" xsd:anyURI {source="GARD:0002009"} @@ -410445,7 +428884,6 @@ replaced_by: MONDO:0024455 id: MONDO:0023035 name: Eagle syndrome def: "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%." [GARD:0009401] -subset: gard_rare synonym: "Eagle's syndrome" EXACT [GARD:0009401, MESH:C538010] synonym: "elongated styloid process syndrome" EXACT [GARD:0009401, MESH:C538010, MONDO:0023037] synonym: "elongated styloid process which causes cervico facial pain tinnitus and otalgia" RELATED [GARD:0009401] @@ -410467,7 +428905,6 @@ replaced_by: MONDO:0023035 [Term] id: MONDO:0023038 name: eccentrochondrodysplasia -subset: gard_rare xref: UMLS:C0026707 {source="GARD:0006314", source="MONDO:directSiblingOf"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia" xsd:anyURI {source="GARD:0006314"} @@ -410475,7 +428912,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6314/eccentr [Term] id: MONDO:0023039 name: eccrine mucinous carcinoma -subset: gard_rare xref: UMLS:C0346020 {source="GARD:0010465", source="MONDO:equivalentTo"} is_a: MONDO:0024240 ! eccrine carcinoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma" xsd:anyURI {source="GARD:0010465"} @@ -410483,28 +428919,24 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10465/eccrin [Term] id: MONDO:0023040 name: ectodermal dysplasia Bartalos type -subset: gard_rare is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type" xsd:anyURI {source="GARD:0002043"} [Term] id: MONDO:0023041 name: ectodermal dysplasia Berlin type -subset: gard_rare is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type" xsd:anyURI {source="GARD:0002044"} [Term] id: MONDO:0023042 name: ectodermal dysplasia margarita type -subset: gard_rare is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type" xsd:anyURI {source="GARD:0002050"} [Term] id: MONDO:0023043 name: ectodermal dysplasia alopecia preaxial polydactyly -subset: gard_rare synonym: "absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" RELATED [GARD:0002040, MESH:C538016] xref: MESH:C538016 {source="MONDO:equivalentTo"} xref: UMLS:C2931691 {source="MONDO:equivalentTo", source="GARD:0002040"} @@ -410515,21 +428947,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2040/ectoder [Term] id: MONDO:0023045 name: ectodermal dysplasia arthrogryposis diabetes mellitus -subset: gard_rare is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus" xsd:anyURI {source="GARD:0002042"} [Term] id: MONDO:0023046 name: ectodermal dysplasia blindness -subset: gard_rare is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness" xsd:anyURI {source="GARD:0002045"} [Term] id: MONDO:0023048 name: ectodermal dysplasia neurosensory deafness -subset: gard_rare xref: UMLS:C1857068 {source="GARD:0002053", source="MONDO:directSiblingOf"} is_a: MONDO:0019287 {source="MONDO:cjm"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness" xsd:anyURI {source="GARD:0002053"} @@ -410537,7 +428966,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2053/ectoder [Term] id: MONDO:0023050 name: ectrodactyly cardiopathy dysmorphism -subset: gard_rare synonym: "ectrodactyly of lower limbs, congenital heart defect and characteristic facies" RELATED [GARD:0002063, MESH:C536187] synonym: "Van Den Ende Brunner syndrome" RELATED [GARD:0002063, MESH:C536187] xref: MESH:C536187 {source="MONDO:equivalentTo"} @@ -410557,7 +428985,6 @@ replaced_by: MONDO:0009156 id: MONDO:0023054 name: klumpke's paralysis def: "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months." [GARD:0003123] -subset: gard_rare synonym: "Dejerine Klumpke Palsy" RELATED [MESH:D020516] synonym: "Dejerine-Klumpke Palsy" RELATED [MESH:D020516] synonym: "Dejerine-Klumpke palsy" RELATED [GARD:0003123] @@ -410593,7 +429020,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0003123"} ! rare [Term] id: MONDO:0023059 name: Elliott ludman Teebi syndrome -subset: gard_rare synonym: "multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs" RELATED [GARD:0000189] xref: MESH:C536204 {source="MONDO:equivalentTo"} xref: UMLS:C2931128 {source="GARD:0000189", source="MONDO:equivalentTo"} @@ -410606,14 +429032,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/189/elliott- [Term] id: MONDO:0023061 name: enamel hypoplasia cataract hydrocephaly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly" xsd:anyURI {source="GARD:0002106"} [Term] id: MONDO:0023062 name: encephalocele anencephaly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly" xsd:anyURI {source="GARD:0002109"} @@ -410628,7 +429052,6 @@ replaced_by: MONDO:0007539 [Term] id: MONDO:0023066 name: enchondromatosis dwarfism deafness -subset: gard_rare synonym: "Wallis cremin Beighton syndrome" RELATED [GARD:0000294] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness" xsd:anyURI {source="GARD:0000294"} @@ -410636,7 +429059,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/294/enchondr [Term] id: MONDO:0023067 name: endemic Kaposi sarcoma -subset: gard_rare synonym: "African Kaposi sarcoma" RELATED [GARD:0010431] synonym: "African/endemic Kaposi sarcoma" RELATED [GARD:0010431] is_a: MONDO:0005055 ! Kaposi's sarcoma @@ -410645,7 +429067,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10431/endemi [Term] id: MONDO:0023068 name: engelhard yatziv syndrome -subset: gard_rare xref: Orphanet:2937 {source="GARD:0002124"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome" xsd:anyURI {source="GARD:0002124"} @@ -410653,7 +429074,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2124/engelha [Term] id: MONDO:0023069 name: enlarged vestibular aqueduct syndrome -subset: gard_rare synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332] synonym: "enlarged vestibular aqueduct syndrome" EXACT CLINGEN_PREFERRED [] synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651] @@ -410666,14 +429086,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8651/enlarge [Term] id: MONDO:0023071 name: enterovirus antenatal infection -subset: gard_rare is_a: MONDO:0005747 ! enterovirus infectious disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection" xsd:anyURI {source="GARD:0002130"} [Term] id: MONDO:0023072 name: obsolete envenomization by Bothrops lanceolatus -subset: gard_rare synonym: "Envenomization by the Martinique lancehead viper" RELATED [GARD:0002131] xref: Orphanet:1939 {source="GARD:0002131", source="MONDO:obsoleteEquivalentObsolete"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus" xsd:anyURI {source="GARD:0002131"} @@ -410683,7 +429101,6 @@ is_obsolete: true id: MONDO:0023073 name: eosinophilic cryptitis def: "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." [GARD:0006347] -subset: gard_rare synonym: "eosinophilic cystitis" RELATED [GARD:0006347] xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:445918001 {source="MONDO:equivalentTo"} @@ -410697,7 +429114,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6347/eosinop id: MONDO:0023076 name: eosinophilic pustular folliculitis def: "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." [GARD:0008534] -subset: gard_rare synonym: "eosinophilic folliculitis" RELATED [GARD:0008534] synonym: "eosinophilic folliculitis, pustular" RELATED [GARD:0008534, MESH:C535953] synonym: "EPF" RELATED ABBREVIATION [GARD:0008534] @@ -410714,21 +429130,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8534/eosinop [Term] id: MONDO:0023079 name: epidermal nevus vitamin D resistant rickets -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets" xsd:anyURI {source="GARD:0002136"} [Term] id: MONDO:0023083 name: epimetaphyseal dysplasia cataract -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract" xsd:anyURI {source="GARD:0002175"} [Term] id: MONDO:0023084 name: epiphyseal dysplasia dysmorphism camptodactyly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly" xsd:anyURI {source="GARD:0002177"} @@ -410736,7 +429149,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2177/epiphys id: MONDO:0023089 name: erythroplakia def: "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." [NCIT:C3025] -subset: gard_rare synonym: "erythroplakia" EXACT [NCIT:C3025] xref: EFO:1001786 {source="MONDO:equivalentTo"} xref: NCIT:C3025 {source="MONDO:equivalentTo"} @@ -410747,14 +429159,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6378/erythro [Term] id: MONDO:0023091 name: esophageal atresia coloboma talipes -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes" xsd:anyURI {source="GARD:0002196"} [Term] id: MONDO:0023093 name: exertional headache -subset: gard_rare synonym: "primary Exertional headache" RELATED [GARD:0010800] synonym: "primary headache associated with sexual activity" RELATED [GARD:0010800] is_a: MONDO:0021146 ! headache disorder @@ -410764,7 +429174,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10800/exerti id: MONDO:0023094 name: exogenous ochronosis def: "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria." [GARD:0010757] -subset: gard_rare synonym: "exogenous ochronosis" EXACT [MESH:C531762] synonym: "ochronosis, acquired" RELATED [GARD:0010757] synonym: "ocular ochronosis" RELATED [MESH:C531762] @@ -410778,7 +429187,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10757/exogen [Term] id: MONDO:0023097 name: obsolete exostoses anetodermia brachydactyly type E -subset: gard_rare xref: UMLS:C1851428 {source="GARD:0002202", source="MONDO:relatedTo"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/405" xsd:anyURI is_obsolete: true @@ -410786,7 +429194,6 @@ is_obsolete: true [Term] id: MONDO:0023098 name: extrasystoles short stature hyperpigmentation microcephaly -subset: gard_rare synonym: "Char douglas Dungan syndrome" RELATED [GARD:0002213] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly" xsd:anyURI {source="GARD:0002213"} @@ -410794,7 +429201,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2213/extrasy [Term] id: MONDO:0023099 name: FRAXD syndrome -subset: gard_rare synonym: "FRAXD" RELATED ABBREVIATION [GARD:0002377] is_a: MONDO:0019040 {source="PMID:1532475", source="PMID:1605182"} ! chromosomal disorder relationship: disease_arises_from_structure CHR:9606-chrXq27.2 {source="PMID:1532475", source="PMID:1605182"} ! Xq27.2 (Human) @@ -410804,21 +429210,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2377/fraxd" [Term] id: MONDO:0023100 name: facial clefting corpus callosum agenesis -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0002220"} [Term] id: MONDO:0023101 name: facio digito genital syndrome recessive form -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form" xsd:anyURI {source="GARD:0002226"} [Term] id: MONDO:0023102 name: facio skeletal genital syndrome rippberger type -subset: gard_rare synonym: "Ripperger Aase syndrome" RELATED [GARD:0002227] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type" xsd:anyURI {source="GARD:0002227"} @@ -410837,7 +429240,6 @@ is_a: MONDO:0005516 {source="MESH:C536393"} ! osteochondrodysplasia [Term] id: MONDO:0023111 name: familial capillaro-venous leptomeningeal angiomatosis -subset: gard_rare xref: MESH:C536609 {source="MONDO:equivalentTo"} xref: UMLS:C2931262 {source="MONDO:equivalentTo", source="GARD:0009423"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -410847,7 +429249,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9423/familia id: MONDO:0023113 name: familial colorectal cancer def: "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." [GARD:0008533] -subset: gard_rare synonym: "colorectal cancer, familial" RELATED [GARD:0008533] synonym: "hereditary colorectal cancer" EXACT [MONDO:patterns/hereditary] xref: UMLS:CN029768 {source="MONDO:equivalentTo"} @@ -410860,7 +429261,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8533/familia [Term] id: MONDO:0023119 name: familial myelofibrosis -subset: gard_rare xref: MESH:C536848 {source="MONDO:equivalentTo"} xref: UMLS:C2931351 {source="GARD:0008516", source="MONDO:equivalentTo"} is_a: MONDO:0009692 {source="MESH:C536848"} ! primary myelofibrosis @@ -410869,7 +429269,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8516/familia [Term] id: MONDO:0023121 name: familial partial paralysis -subset: gard_rare synonym: "partial paralysis, familial" RELATED [GARD:0008607] xref: GTR:AN0100894 xref: MEDGEN:447610 @@ -410881,7 +429280,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8607/familia id: MONDO:0023122 name: familial prostate carcinoma def: "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." [NCIT:C103817] -subset: gard_rare +subset: gard_rare {source="GARD:4520"} synonym: "familial prostate cancer" EXACT [GTR:AN0101368] synonym: "hereditary prostate cancer" EXACT [GTR:AN0101369, MONDO:patterns/hereditary, NCIT:C103817] synonym: "hereditary prostate carcinoma" EXACT [NCIT:C103817] @@ -410891,6 +429290,7 @@ synonym: "prostate cancer, familial, susceptibility to, autosomal dominant, soma synonym: "prostate cancer, hereditary" RELATED [GARD:0004520] synonym: "prostate cancer, somatic" EXACT [OMIM:176807, OMIM:genemap2] synonym: "prostate cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2] +xref: GARD:4520 {source="Orphanet:1331"} xref: GTR:AN0101368 xref: GTR:AN0101369 xref: MESH:C537243 {source="Orphanet:1331", source="Orphanet:1331/e"} @@ -410911,7 +429311,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4520/familia [Term] id: MONDO:0023124 name: familial pulmonary arterial hypertension leucopenia and atrial septal defect -subset: gard_rare synonym: "familial PAH, leucopenia and ASD" RELATED [GARD:0010455] synonym: "familial pulmonary arterial hypertension, leucopenia and ASD" RELATED [GARD:0010455] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -410920,7 +429319,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10455/famili [Term] id: MONDO:0023129 name: Fara Chlupackova syndrome -subset: gard_rare synonym: "familial oto-facio-cervical dysmorphia" RELATED [GARD:0002273, MESH:C537074] xref: MESH:C537074 {source="MONDO:equivalentTo"} xref: UMLS:C2931416 {source="MONDO:equivalentObsolete", source="GARD:0002273"} @@ -410941,7 +429339,6 @@ relationship: disease_has_feature MONDO:0009022 {source="MESH:C537076"} ! corpus id: MONDO:0023134 name: febrile ulceronecrotic Mucha-Habermann disease def: "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." [GARD:0009516] -subset: gard_rare synonym: "A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)" RELATED [GARD:0009516] synonym: "febrile ulceronecrotic Mucha-Habermann disease" EXACT [] synonym: "febrile ulceronecrotic pityriasis lichenoides acuta" EXACT [] @@ -410957,14 +429354,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9516/febrile [Term] id: MONDO:0023137 name: feigenbaum Bergeron syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome" xsd:anyURI {source="GARD:0002280"} [Term] id: MONDO:0023138 name: Feingold trainer syndrome -subset: gard_rare synonym: "unusual facies, cleft palate, short stature, and intellectual disability" RELATED [GARD:0002282, MESH:C536179] synonym: "unusual facies, cleft palate, short stature, and mental retardation" RELATED DEPRECATED [GARD:0002282, MESH:C536179] xref: MESH:C536179 {source="MONDO:equivalentTo"} @@ -410977,7 +429372,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2282/feingol [Term] id: MONDO:0023140 name: fenton Wilkinson Toselano syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome" xsd:anyURI {source="GARD:0002287"} @@ -410995,14 +429389,12 @@ is_obsolete: true [Term] id: MONDO:0023142 name: fetal brain disruption sequence -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence" xsd:anyURI {source="GARD:0002297"} [Term] id: MONDO:0023143 name: fetal enterovirus syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease intersection_of: MONDO:0016511 ! infectious embryofetopathy intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation @@ -411013,7 +429405,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2302/fetal-e id: MONDO:0023147 name: fetal parainfluenza virus type 3 syndrome def: "A syndrome caused by HPIV-3." [http://cmr.asm.org/content/16/2/242.full] -subset: gard_rare synonym: "Human respirovirus 3 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human respirovirus 3 infectious embryofetopathy" EXACT [] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -411024,7 +429415,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2309/fetal-p [Term] id: MONDO:0023148 name: fetal phenothiazine syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0016677 {source="MONDO:cjm"} ! toxic or drug-related embryofetopathy property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome" xsd:anyURI {source="GARD:0002311"} @@ -411032,7 +429422,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2311/fetal-p [Term] id: MONDO:0023149 name: infection due to clostridium perfringens -subset: gard_rare synonym: "C. perfringens infection" RELATED [GARD:0011970] synonym: "Clostridium perfringens Infection" RELATED [MESH:D003015] synonym: "Clostridium perfringens infection" RELATED [UMLS:C0275619] @@ -411053,7 +429442,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0011970"} ! rare id: MONDO:0023152 name: fibrocartilaginous embolism def: "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." [GARD:0009718] -subset: gard_rare synonym: "embolism, fibrocartilaginous" RELATED [GARD:0009718, MESH:C537927] xref: MESH:C537927 {source="MONDO:equivalentTo"} xref: UMLS:C2931666 {source="MONDO:equivalentTo", source="GARD:0009718"} @@ -411075,7 +429463,6 @@ relationship: excluded_subClassOf MONDO:0018076 {source="NCIT:C27076", source="U [Term] id: MONDO:0023154 name: fibromatosis multiple non ossifying -subset: gard_rare synonym: "disseminated nonossifying fibromas in association with cafe-au-lait spots" RELATED [GARD:0000309] synonym: "Jaffe Campanacci syndrome" RELATED [GARD:0000309] xref: SCTID:715432009 {source="MONDO:equivalentTo"} @@ -411086,14 +429473,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/309/fibromat [Term] id: MONDO:0023155 name: fibula aplasia complex brachydactyly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly" xsd:anyURI {source="GARD:0002329"} [Term] id: MONDO:0023156 name: obsolete fibular aplasia -subset: gard_rare xref: UMLS:C1836186 {source="GARD:0008659", source="MONDO:notFoundInDiseaseSubset"} is_obsolete: true consider: HP:0002990 @@ -411101,7 +429486,6 @@ consider: HP:0002990 [Term] id: MONDO:0023157 name: fibular hypoplasia scapulo pelvic dysplasia absent -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent" xsd:anyURI {source="GARD:0002333"} @@ -411110,7 +429494,6 @@ id: MONDO:0023158 name: Fitz-Hugh-Curtis syndrome def: "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics." [GARD:0006452] comment: Editor note: check taxon -subset: gard_rare synonym: "gonococcal perihepatitis" NARROW [GARD:0006452, MESH:C537936] synonym: "perihepatitis syndrome" RELATED [GARD:0006452, MESH:C537936] xref: MESH:C537936 {source="MONDO:equivalentTo"} @@ -411153,7 +429536,6 @@ intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious [Term] id: MONDO:0023165 name: florid cystic endosalpingiosis of the uterus -subset: gard_rare synonym: "cystic endosalpingiosis of the uterus" RELATED [GARD:0000130, MESH:C537064] synonym: "florid cystic endosalpingiosis" RELATED [] synonym: "intramural florid cystic endosalpingiosis in lower uterine segment of the uterus" RELATED [PMID:25675925] @@ -411169,14 +429551,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/130/florid-c [Term] id: MONDO:0023167 name: focal alopecia congenital megalencephaly -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly" xsd:anyURI {source="GARD:0002349"} [Term] id: MONDO:0023170 name: focal or multifocal malformations in neuronal migration -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration" xsd:anyURI {source="GARD:0002350"} @@ -411184,7 +429564,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2350/focal-o id: MONDO:0023171 name: foix chavany Marie syndrome def: "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." [Orphanet:2048] -subset: gard_rare +subset: gard_rare {source="GARD:2351"} synonym: "anterior opercular syndrome" RELATED [MESH:C537069] synonym: "bilateral anterior opercular syndrome" RELATED [MESH:C537069] synonym: "congenital Foix-Chavany-Marie syndrome" RELATED [MESH:C537069] @@ -411195,6 +429575,7 @@ synonym: "facio-pharyngo-glosso-masticatory diplegia" RELATED [] synonym: "foix chavany Marie syndrome" EXACT [] synonym: "opercular syndrome, anterior" RELATED [MESH:C537069] synonym: "pseudobulbar paralysis, cortical type" RELATED [MESH:C537069] +xref: GARD:2351 {source="Orphanet:2048"} xref: MESH:C537069 {source="MONDO:equivalentTo"} xref: Orphanet:2048 {source="MONDO:equivalentTo"} xref: SCTID:720956003 {source="MONDO:equivalentTo"} @@ -411208,7 +429589,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2351/foix-ch id: MONDO:0023174 name: obsolete follicular lymphoreticuloma comment: Editor note: check hodgkin's disease, lymphocyte depletion, reticular -subset: gard_rare xref: NCIT:C66847 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma" xsd:anyURI {source="GARD:0002357"} is_obsolete: true @@ -411216,14 +429596,12 @@ is_obsolete: true [Term] id: MONDO:0023175 name: Fontaine farriaux blanckaert syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome" xsd:anyURI {source="GARD:0002358"} [Term] id: MONDO:0023176 name: formaldehyde poisoning -subset: gard_rare synonym: "formaldehyde exposure" RELATED [MESH:C537268] synonym: "formaldehyde toxicity" RELATED [GARD:0002361, MESH:C537268] synonym: "Formalin intoxication" RELATED [GARD:0002361, MESH:C537268] @@ -411238,28 +429616,24 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2361/formald [Term] id: MONDO:0023178 name: fragile X syndrome type 1 -subset: gard_rare is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1" xsd:anyURI {source="GARD:0002366"} [Term] id: MONDO:0023179 name: fragile X syndrome type 2 -subset: gard_rare is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2" xsd:anyURI {source="GARD:0002367"} [Term] id: MONDO:0023180 name: fragile X syndrome type 3 -subset: gard_rare is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3" xsd:anyURI {source="GARD:0002368"} [Term] id: MONDO:0023182 name: Franceschini Vardeu Guala syndrome -subset: gard_rare xref: MESH:C537272 {source="MONDO:equivalentTo"} xref: UMLS:C2931463 {source="MONDO:equivalentTo", source="GARD:0002371"} is_a: MONDO:0007534 {source="MESH:C537272"} ! Beckwith-Wiedemann syndrome @@ -411268,7 +429642,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2371/frances [Term] id: MONDO:0023186 name: Fraser Jequier Chen syndrome -subset: gard_rare synonym: "chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs" RELATED [GARD:0002373] xref: MESH:C535481 {source="MONDO:equivalentTo"} xref: UMLS:C2930912 {source="MONDO:equivalentTo", source="GARD:0002373"} @@ -411281,13 +429654,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2373/fraser- id: MONDO:0023188 name: Freiberg disease def: "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." [GARD:0002380] -subset: gard_rare +subset: gard_rare {source="GARD:2380"} synonym: "Freiberg's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Freiberg's infraction" RELATED [GARD:0002380, MESH:C535636] synonym: "Freiberg-Kohler syndrome" RELATED [GARD:0002380, MESH:C535636] synonym: "Kohler's second disease" RELATED [GARD:0002380, MESH:C535636] synonym: "Osteochondrosis of the metatarsal head, usually the second" RELATED [GARD:0002380] synonym: "second metatarsal osteochondrosis" RELATED [GARD:0002380, MESH:C535636] +xref: GARD:2380 {source="Orphanet:564003"} xref: MESH:C535636 {source="MONDO:equivalentTo"} xref: Orphanet:564003 {source="MONDO:equivalentTo"} xref: SCTID:28466007 {source="MONDO:equivalentTo"} @@ -411309,14 +429683,12 @@ replaced_by: MONDO:0010111 [Term] id: MONDO:0023193 name: Friedman Goodman syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome" xsd:anyURI {source="GARD:0002387"} [Term] id: MONDO:0023194 name: frints de Smet Fabry Fryns syndrome -subset: gard_rare synonym: "Symbrachydactyly of the hand and foot" RELATED [GARD:0001680, MESH:C538062] xref: MESH:C538062 {source="MONDO:equivalentTo"} xref: UMLS:C2931719 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001680"} @@ -411326,7 +429698,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1680/frints- [Term] id: MONDO:0023196 name: frontonasal malformation cloacal exstrophy -subset: gard_rare synonym: "fronto nasal malformation cloacal exstrophy" RELATED [GARD:0002389] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy" xsd:anyURI {source="GARD:0002389"} @@ -411334,7 +429705,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2389/fronto- [Term] id: MONDO:0023197 name: frontonasal dysplasia Klippel feil syndrome -subset: gard_rare xref: Orphanet:1828 {source="GARD:0002394"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome @@ -411344,7 +429714,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2394/fronton [Term] id: MONDO:0023199 name: frontonasal dysplasia phocomelic upper limbs -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease relationship: disease_has_feature MONDO:0016643 ! frontonasal dysplasia relationship: disease_has_feature MONDO:0017441 ! congenital absence of upper arm and forearm with hand present @@ -411353,14 +429722,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2395/fronton [Term] id: MONDO:0023200 name: Fryns Fabry Remans syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome" xsd:anyURI {source="GARD:0002407"} [Term] id: MONDO:0023201 name: Fryns Smeets Thiry syndrome -subset: gard_rare +subset: gard_rare {source="GARD:2409"} +xref: GARD:2409 {source="Orphanet:2058"} xref: Orphanet:2058 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome" xsd:anyURI {source="GARD:0002409"} @@ -411374,7 +429743,6 @@ is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease [Term] id: MONDO:0023204 name: Fukuda-Miyanomae-Nakata syndrome -subset: gard_rare synonym: "Cerebromuscular dystrophy, Fukuyama type" RELATED [GARD:0006475] synonym: "FCMD" RELATED ABBREVIATION [GARD:0006475] synonym: "Fukuyama type muscular dystrophy" RELATED [GARD:0006475] @@ -411395,7 +429763,7 @@ id: MONDO:0023206 name: functional pancreatic neuroendocrine tumor def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." [NCIT:C45840] subset: disease_grouping -subset: gard_rare +subset: gard_rare {source="GARD:22053"} subset: ordo_group_of_disorders synonym: "functional pancreatic NET" EXACT [NCIT:C45840] synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] @@ -411417,6 +429785,7 @@ synonym: "functioning well-differentiated pancreatic neuroendocrine neoplasm" EX synonym: "syndromic pancreatic NET" EXACT [NCIT:C45840] synonym: "syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] synonym: "syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] +xref: GARD:22053 {source="Orphanet:506060"} xref: NCIT:C45840 {source="MONDO:equivalentTo"} xref: Orphanet:506060 {source="MONDO:equivalentTo"} xref: UMLS:C1708105 {source="GARD:0002414", source="MONDO:notFoundInDiseaseSubset"} @@ -411430,14 +429799,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2414/functio [Term] id: MONDO:0023208 name: Fuqua Berkovitz syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome" xsd:anyURI {source="GARD:0002415"} [Term] id: MONDO:0023209 name: galactorrhoea-hyperprolactinaemia -subset: gard_rare synonym: "galactorrhea-hyperprolactinemia" RELATED [GARD:0008400] synonym: "galactorrhoea-hyperprolactinaemia" EXACT [MESH:C535402] synonym: "hyperprolactinaemia" RELATED [GARD:0008400] @@ -411449,7 +429816,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8400/galacto [Term] id: MONDO:0023212 name: Garret-Tripp syndrome -subset: gard_rare synonym: "Garret Tripp syndrome" RELATED [GARD:0002435] synonym: "intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [MESH:C535646] synonym: "Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [GARD:0002435] @@ -411468,7 +429834,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2435/garret- [Term] id: MONDO:0023214 name: gas bloat syndrome -subset: gard_rare synonym: "post-fundoplication syndrome" RELATED [GARD:0006484, MESH:C535647] xref: MESH:C535647 {source="MONDO:equivalentTo"} xref: UMLS:C2930966 {source="MONDO:equivalentTo", source="GARD:0006484"} @@ -411484,7 +429849,6 @@ replaced_by: MONDO:0015078 [Term] id: MONDO:0023221 name: Gaucher ichthyosis restrictive dermopathy -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy" xsd:anyURI {source="GARD:0002444"} @@ -411492,7 +429856,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2444/gaucher id: MONDO:0023224 name: inherited reflex epilepsy def: "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare synonym: "hereditary reflex epilepsy" EXACT [MONDO:patterns/hereditary] intersection_of: MONDO:0017768 ! reflex epilepsy intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -411500,7 +429863,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0023226 name: gershinibaruch Leibo syndrome -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome" xsd:anyURI {source="GARD:0002464"} @@ -411508,7 +429870,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2464/gershin id: MONDO:0023227 name: gestational diabetes insipidus def: "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low." [PMID:20500966] -subset: gard_rare synonym: "diabetes insipidus gestational" RELATED [GARD:0010702] synonym: "Gestagenic diabetes insipidus" RELATED [GARD:0010702] xref: DOID:0081057 {source="MONDO:equivalentTo"} @@ -411520,7 +429881,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10702/gestat [Term] id: MONDO:0023230 name: Ghose-Sachdev-Kumar syndrome -subset: gard_rare synonym: "bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma" RELATED [GARD:0002467] xref: MESH:C537803 {source="MONDO:equivalentTo"} xref: UMLS:C2974016 {source="MONDO:equivalentTo"} @@ -411534,7 +429894,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2467/ghose-s id: MONDO:0023232 name: giant cell myocarditis def: "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." [NCIT:C97055] -subset: gard_rare synonym: "GCM" RELATED ABBREVIATION [GARD:0006502] synonym: "giant cell myocarditis" EXACT [NCIT:C97055] synonym: "idiopathic giant-cell myocarditis" RELATED [GARD:0006502] @@ -411555,7 +429914,6 @@ replaced_by: MONDO:0044792 [Term] id: MONDO:0023238 name: giant mammary hamartoma -subset: gard_rare synonym: "giant hamartoma of the breast" RELATED [GARD:0000208, MESH:C536818] xref: MESH:C536818 {source="MONDO:equivalentTo"} xref: UMLS:C2931343 {source="MONDO:equivalentTo", source="GARD:0000208"} @@ -411565,7 +429923,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/208/giant-ma [Term] id: MONDO:0023240 name: gigantism advanced bone age hoarse cry -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry" xsd:anyURI {source="GARD:0002471"} @@ -411573,7 +429930,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2471/giganti id: MONDO:0023243 name: glass-chapman-hockley syndrome def: "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." [GARD:0002479] -subset: gard_rare subset: n_of_one synonym: "craniosynostosis - dysmorphism - brachydactyly" RELATED [GARD:0002479] synonym: "craniosynostosis brachydactyly" RELATED [GARD:0002479] @@ -411591,7 +429947,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2479/glass-c id: MONDO:0023246 name: linear porokeratosis def: "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." [GARD:0009515] -subset: gard_rare synonym: "Congenital facial linear porokeratosis (type)" RELATED [GARD:0009515] synonym: "Linear Porokeratosis" RELATED [MESH:D017499] synonym: "Linear porokeratosis" RELATED [UMLS:C0302319] @@ -411606,7 +429961,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0009515"} ! rare [Term] id: MONDO:0023249 name: polyarticular juvenile rheumatoid arthritis -subset: gard_rare synonym: "Juvenile polyarthritis rheumatoid factor negative" RELATED [GARD:0010967] synonym: "Juvenile polyarthritis rheumatoid factor positive" RELATED [GARD:0010967] synonym: "Polyarticular juvenile rheumatoid arthritis" RELATED [GARD:0010967, UMLS:C0311221] @@ -411618,14 +429972,12 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0010967"} ! rare [Term] id: MONDO:0023250 name: global disaccharide intolerance -subset: gard_rare is_a: MONDO:0009114 {source="MONDO:cjm"} ! congenital sucrase-isomaltase deficiency property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance" xsd:anyURI {source="GARD:0008386"} [Term] id: MONDO:0023255 name: glossopalatine ankylosis micrognathia ear anomalies -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies" xsd:anyURI {source="GARD:0002495"} @@ -411634,7 +429986,6 @@ id: MONDO:0023258 name: glycogen storage disease type 1 due to SLC37A4 mutation def: "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." [MONDO:patterns/disease_series_by_gene] comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i -subset: gard_rare synonym: "G6P translocase deficiency" BROAD [GARD:0002501] synonym: "glucose-6-phosphate translocase deficiency" EXACT [GARD:0002501] synonym: "glycogen storage disease I caused by mutation in SLC37A4" EXACT [MONDO:design_pattern] @@ -411650,7 +430001,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2501/glucose [Term] id: MONDO:0023263 name: glyceraldehyde-3-phosphate dehydrogenase deficiency -subset: gard_rare synonym: "GAPDH deficiency" RELATED [GARD:0002510] xref: HGNC:4141 {source="GARD:0002510"} xref: MESH:C536837 {source="MONDO:equivalentTo"} @@ -411672,7 +430022,6 @@ relationship: disease_has_feature MONDO:0019350 {source="MESH:C537282"} ! heredi [Term] id: MONDO:0023272 name: goniodysgenesis intellectual disability short stature -subset: gard_rare is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature" xsd:anyURI {source="GARD:0002545"} @@ -411680,7 +430029,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2545/goniody id: MONDO:0023273 name: pigmented dermatofibrosarcoma protuberans def: "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells." [NCIT:C9430] -subset: gard_rare synonym: "Bednar Tumor" RELATED [MESH:D018223, NCIT:C9430] synonym: "bednar tumor" EXACT [NCIT:C9430] synonym: "Bednar Tumour" RELATED OMO:0003005 [] @@ -411720,12 +430068,13 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0009624"} ! rare id: MONDO:0023275 name: Graham-Boyle-Troxell syndrome def: "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." [Orphanet:2111] -subset: gard_rare +subset: gard_rare {source="GARD:2557"} subset: ordo_disease synonym: "cystic hamartoma of lung and kidney" EXACT [GARD:0002557] synonym: "cystic hamartomata of lung and kidney" RELATED [MESH:C537292] synonym: "graham Boyle Troxell syndrome" EXACT [] synonym: "Graham-Boyle-Troxell syndrome" EXACT [Orphanet:2111] +xref: GARD:2557 {source="Orphanet:2111"} xref: ICD10CM:Q85.8 {source="Orphanet:2111"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537292 {source="MONDO:equivalentTo"} @@ -411742,7 +430091,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2557/graham- id: MONDO:0023282 name: granulomatous hypophysitis def: "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." [doi:10.1002/ccr3.1007] -subset: gard_rare synonym: "idiopathic granulomatous hypophysitis" RELATED [GARD:0006547] is_a: MONDO:0021156 {source="doi:10.1002/ccr3.1007"} ! hypophysitis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis" xsd:anyURI {source="GARD:0006547"} @@ -411782,7 +430130,6 @@ relationship: disease_has_location UBERON:0000992 ! ovary [Term] id: MONDO:0023286 name: graphite pneumoconiosis -subset: gard_rare synonym: "carbon pneumoconiosis" RELATED [GARD:0008359] synonym: "graphite fibrosis" RELATED [] synonym: "graphite fibrosis of lung" EXACT [] @@ -411799,7 +430146,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8359/graphit [Term] id: MONDO:0023288 name: green sandford davison syndrome -subset: gard_rare synonym: "anal anomalies, renal tract abnormalities, genital malformations, and syndactyly" RELATED [GARD:0002447] synonym: "renal and anogenital malformations with syndactyly" RELATED [GARD:0002447] xref: MESH:C538221 {source="MONDO:equivalentTo"} @@ -411811,7 +430157,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2447/green-s [Term] id: MONDO:0023290 name: grix Blankenship Peterson syndrome -subset: gard_rare synonym: "craniofacial and osseous defects intellectual disability" RELATED [GARD:0002567] synonym: "craniofacial and osseous defects mental retardation" RELATED DEPRECATED [GARD:0002567] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -411821,7 +430166,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2567/grix-bl id: MONDO:0023297 name: guttate psoriasis def: "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." [GARD:0010569] -subset: gard_rare synonym: "guttate psoriasis" EXACT [] synonym: "psoriasis guttata" RELATED [] synonym: "psoriasis guttate" RELATED [GARD:0010569] @@ -411842,7 +430186,6 @@ replaced_by: MONDO:0008809 id: MONDO:0023305 name: heavy metal poisoning def: "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." [GARD:0006577] -subset: gard_rare synonym: "chronic heavy metal poisoning" RELATED [GARD:0006577, MESH:C535854] synonym: "heavy metal poisoning" EXACT [MESH:C535854] synonym: "heavy metal toxicity" RELATED [GARD:0006577] @@ -411867,7 +430210,6 @@ replaced_by: MONDO:0018925 id: MONDO:0023368 name: Ho-Kaufman-McAlister syndrome def: "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" [GARD:0001266] -subset: gard_rare synonym: "cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" RELATED [GARD:0001266] synonym: "Ho Kaufman McAlister syndrome" RELATED [GARD:0001266] xref: MESH:C538325 {source="MONDO:equivalentTo"} @@ -411903,7 +430245,6 @@ union_of: MONDO:0021058 ! neoplastic syndrome id: MONDO:0023388 name: pityriasis rotunda def: "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." [GARD:0010904] -subset: gard_rare synonym: "Pityriasis rotunda" RELATED [UMLS:C0343060] xref: SCTID:238639005 {source="MONDO:equivalentTo", source="UMLS:C0343060"} xref: UMLS:C0343060 {source="MONDO:equivalentTo"} @@ -411930,7 +430271,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0023419 name: hyperprolinemia def: "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." [GARD:0002847] -subset: gard_rare synonym: "hyperprolinemia type 1" RELATED [GARD:0002847] synonym: "proline hydrogenase deficiency" RELATED [GARD:0002847] synonym: "proline oxidase deficiency" RELATED [GARD:0002847] @@ -411945,7 +430285,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2847/hyperpr [Term] id: MONDO:0023472 name: chondrodysplasia situs inversus imperforate anus polydactyly -subset: gard_rare synonym: "impossible syndrome" RELATED [GARD:0001299] xref: Orphanet:1424 {source="GARD:0001299"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="MONDO:indirect"} ! syndromic disease @@ -411956,7 +430295,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1299/chondro id: MONDO:0023483 name: infectious myositis def: "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." [NCIT:C26984] -subset: gard_rare synonym: "infectious myositis" EXACT [NCIT:C26984] synonym: "infective myositis" EXACT [NCIT:C26984] xref: ICD9:728.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -411970,7 +430308,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9131/infecti [Term] id: MONDO:0023510 name: Jaffer-Beighton syndrome -subset: gard_rare synonym: "arachnodactyly, joint laxity, and spondylolisthesis" RELATED [GARD:0003040, MESH:C537561] synonym: "Jaffer Beighton syndrome" RELATED [GARD:0003040] xref: MESH:C537561 {source="MONDO:equivalentTo"} @@ -411983,7 +430320,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3040/jaffer- id: MONDO:0023513 name: Jeune syndrome situs inversus comment: Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 -subset: gard_rare subset: n_of_one xref: MESH:C537572 {source="MONDO:equivalentTo"} xref: UMLS:C2931535 {source="GARD:0000303", source="MONDO:equivalentTo"} @@ -411995,7 +430331,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/303/jeune-sy [Term] id: MONDO:0023521 name: Judge Misch wright syndrome -subset: gard_rare synonym: "dry skin, photophobia hyperkeratosis, abnormal fingernails" RELATED [GARD:0003061, MESH:C537692] synonym: "keratodermia palmoplantar periorificial" RELATED [GARD:0003061, MESH:C537692] synonym: "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" RELATED [GARD:0003061, MESH:C537692] @@ -412011,7 +430346,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3061/judge-m id: MONDO:0023528 name: KSHV inflammatory cytokine syndrome def: "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." [NCIT:C125711] -subset: gard_rare synonym: "Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome" EXACT [NCIT:C125711] synonym: "KICS" EXACT ABBREVIATION [GARD:0010827, NCIT:C125711] synonym: "KSHV inflammatory cytokine syndrome" EXACT [NCIT:C125711] @@ -412025,7 +430359,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10827/kshv-i [Term] id: MONDO:0023530 name: kallikrein hypertension -subset: gard_rare synonym: "kallikrein attenuated hypertension" RELATED [GARD:0006811, MESH:C537707] xref: HGNC:6357 {source="GARD:0006811", source="MONDO:otherHierarchy"} xref: MESH:C537707 {source="MONDO:equivalentTo"} @@ -412053,7 +430386,6 @@ replaced_by: MONDO:0023540 [Term] id: MONDO:0023540 name: Kashani-Strom-Utley syndrome -subset: gard_rare synonym: "hypoplastic pulmonary arteries and aorta with obstructive uropathy" RELATED [GARD:0000191, MESH:C537010] synonym: "Kashani Strom Utley syndrome" RELATED [GARD:0000191] synonym: "pulmonary aortic stenosis obstructive uropathy" RELATED [GARD:0000191, MESH:C537010] @@ -412067,7 +430399,6 @@ relationship: disease_has_feature MONDO:0005275 {source="MESH:C537010"} ! lung d [Term] id: MONDO:0023541 name: Kasznica-Carlson-Coppedge syndrome -subset: gard_rare synonym: "ectrodactyly spina bifida cardiopathy" RELATED [GARD:0003080, MESH:C537011] synonym: "ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery" RELATED [GARD:0003080] synonym: "Kasznica Carlson Coppedge syndrome" RELATED [GARD:0003080] @@ -412084,7 +430415,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3080/kasznic [Term] id: MONDO:0023543 name: Katsantoni-Papadakou-Lagoyanni syndrome -subset: gard_rare synonym: "Katsantoni Papadakou Lagoyanni syndrome" RELATED [GARD:0003081] synonym: "Trichodermal syndrome and intellectual disability" RELATED [GARD:0003081, MESH:C537012] synonym: "Trichodermal syndrome and mental retardation" RELATED DEPRECATED [GARD:0003081, MESH:C537012] @@ -412101,7 +430431,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3081/katsant id: MONDO:0023551 name: C1q nephropathy def: "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome." [GARD:0012136] -subset: gard_rare synonym: "C1q nephropathy" EXACT [UMLS:C0403434] xref: SCTID:236412002 {source="UMLS:C0403434", source="MONDO:equivalentTo"} xref: UMLS:C0403434 {source="MONDO:equivalentTo"} @@ -412140,7 +430469,6 @@ intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina [Term] id: MONDO:0023558 name: Kocher-debre-Semelaigne syndrome -subset: gard_rare synonym: "association of muscular pseudohypertrophy and hypothyroidism in children" RELATED [GARD:0008270] synonym: "Kocher debre Semelaigne disease" RELATED [GARD:0008270, MESH:C537211] xref: MESH:C537211 {source="MONDO:equivalentTo"} @@ -412153,7 +430481,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8270/kocher- [Term] id: MONDO:0023561 name: Koone-Rizzo-Elias syndrome -subset: gard_rare synonym: "ichthyosis, intellectual disability and asymptomatic spasticity" RELATED [GARD:0003131, MESH:C537023] synonym: "ichthyosis, mental retardation and asymptomatic spasticity" RELATED DEPRECATED [GARD:0003131, MESH:C537023] synonym: "Koone Rizzo Elias syndrome" RELATED [GARD:0003131] @@ -412169,7 +430496,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3131/koone-r [Term] id: MONDO:0023563 name: Kotzot-Richter syndrome -subset: gard_rare synonym: "albinism with immune and hematologic defects" RELATED [GARD:0003134, MESH:C537025] synonym: "oculocutaneous albinism, immunodeficiency, haematological disorders, and minor anomalies" RELATED OMO:0003005 [] synonym: "oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" RELATED [GARD:0003134, MESH:C537025] @@ -412182,7 +430508,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3134/kotzot- [Term] id: MONDO:0023567 name: Kozlowski Brown Hardwick syndrome -subset: gard_rare synonym: "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" RELATED [GARD:0003136] xref: MESH:C537506 {source="MONDO:equivalentTo"} xref: UMLS:C2931511 {source="GARD:0003136", source="MONDO:equivalentTo"} @@ -412192,7 +430517,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3136/kozlows [Term] id: MONDO:0023569 name: Kozlowski Ouvrier syndrome -subset: gard_rare synonym: "agenesis of the corpus callosum with intellectual disability and osseous lesions" RELATED [GARD:0003139, MESH:C537508] synonym: "agenesis of the corpus callosum with mental retardation and osseous lesions" RELATED DEPRECATED [GARD:0003139, MESH:C537508] xref: MESH:C537508 {source="MONDO:equivalentTo"} @@ -412205,7 +430529,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3139/kozlows [Term] id: MONDO:0023571 name: Kozlowski Rafinski Klicharska syndrome -subset: gard_rare synonym: "metaphyseal and epiphyseal dysplasia with unusual facies and cataract" RELATED [GARD:0003140, MESH:C537509] xref: MESH:C537509 {source="MONDO:equivalentTo"} xref: UMLS:C2931513 {source="MONDO:equivalentTo", source="GARD:0003140"} @@ -412219,7 +430542,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3140/kozlows [Term] id: MONDO:0023573 name: Kozlowski Warren Fisher syndrome -subset: gard_rare synonym: "cloverleaf skull generalised bone dysplasia" RELATED OMO:0003005 [] synonym: "cloverleaf skull generalized bone dysplasia" RELATED [GARD:0000353, MESH:C537614] xref: MESH:C537614 {source="MONDO:equivalentTo"} @@ -412231,7 +430553,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/353/kozlowsk [Term] id: MONDO:0023575 name: Krauss Herman Holmes syndrome -subset: gard_rare synonym: "telecanthus, hypertelorism, strabismus, and pes cavus syndrome" RELATED [GARD:0003143, MESH:C537618] xref: MESH:C537618 {source="MONDO:equivalentTo"} xref: UMLS:C2931549 {source="MONDO:equivalentTo", source="GARD:0003143"} @@ -412242,7 +430563,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3143/krauss- [Term] id: MONDO:0023577 name: Krieble Bixler syndrome -subset: gard_rare synonym: "autosomal dominant blepharophimosis with multiple congenital anomalies" RELATED [GARD:0003144, MESH:C537619] xref: MESH:C537619 {source="MONDO:equivalentTo"} xref: UMLS:C2931550 {source="MONDO:equivalentTo", source="GARD:0003144"} @@ -412253,7 +430573,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3144/krieble [Term] id: MONDO:0023579 name: Kuster Majewski Hammerstein syndrome -subset: gard_rare synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125] synonym: "alopecia, macular degeneration, and growth retardation" RELATED [GARD:0003151, MESH:C538125] xref: MESH:C538125 {source="MONDO:equivalentTo"} @@ -412267,7 +430586,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3151/kuster- [Term] id: MONDO:0023581 name: Kuster syndrome -subset: gard_rare synonym: "cleft lip and palate, lower lip pits, and limb deficiency defects" RELATED [GARD:0003152] synonym: "cleft lip palate lip pits limb deficiency" RELATED [GARD:0003152] xref: MESH:C538126 {source="MONDO:equivalentTo"} @@ -412281,7 +430599,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3152/kuster- id: MONDO:0023595 name: congenital myotonic dystrophy def: "Myotonic dystrophy that is present at birth." [NCIT:C123308] -subset: gard_rare synonym: "Congenital Myotonic dystrophies" RELATED [MESH:D009223] synonym: "Congenital Myotonic dystrophy" RELATED [MESH:D009223, NCIT:C123308] synonym: "Congenital myotonic dystrophy" RELATED [UMLS:C0410226] @@ -412305,7 +430622,6 @@ id: MONDO:0023597 name: laryngeal papillomatosis def: "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." [GARD:0006864] comment: Editor note: compare with MONDO:0000935 -subset: gard_rare synonym: "juvenile laryngeal papillomatosis" RELATED [MESH:C537876] synonym: "juvenile laryngeal papillomatosis (subtype)" RELATED [GARD:0006864] synonym: "laryngeal papillomatosis" EXACT [] @@ -412376,7 +430692,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0023605 name: Laugier-Hunziker syndrome -subset: gard_rare synonym: "Laugier and Hunziker pigmentation" RELATED [GARD:0009669] synonym: "Laugier-Hunziker syndrome" EXACT [] synonym: "LHS" RELATED ABBREVIATION [GARD:0009669] @@ -412389,7 +430704,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9669/laugier [Term] id: MONDO:0023607 name: Laurence-Prosser-Rocker syndrome -subset: gard_rare synonym: "Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly" RELATED [GARD:0003201] synonym: "Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect" RELATED [GARD:0003201] xref: MESH:C537882 {source="MONDO:equivalentTo"} @@ -412400,7 +430714,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3201/laurenc [Term] id: MONDO:0023609 name: le Marec-Bracq-Picaud syndrome -subset: gard_rare synonym: "complex malformation syndrome with brachymesomelia" RELATED [GARD:0000171, MESH:C536997] xref: MESH:C536997 {source="MONDO:equivalentTo"} xref: UMLS:C2931385 {source="MONDO:equivalentTo", source="GARD:0000171"} @@ -412419,7 +430732,6 @@ replaced_by: MONDO:0007888 id: MONDO:0023619 name: lentigo maligna melanoma def: "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." [GARD:0009962] -subset: gard_rare synonym: "Hutchison melanotic freckle" RELATED [GARD:0009962] synonym: "lentigo maligna melanoma" EXACT [NCIT:C9151] synonym: "LMM" RELATED ABBREVIATION [GARD:0009962] @@ -412438,7 +430750,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9962/lentigo id: MONDO:0023628 name: levator syndrome def: "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." [GARD:0006899] -subset: gard_rare synonym: "anorectal spasm" RELATED [] synonym: "levator ani spasm syndrome" RELATED [GARD:0006899, MESH:C535890] synonym: "levator ani syndrome" RELATED [GARD:0006899, MESH:C535890] @@ -412460,7 +430771,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6899/levator [Term] id: MONDO:0023642 name: Weber syndrome -subset: gard_rare synonym: "Midbrain stroke syndromes" RELATED [GARD:0008676] synonym: "Weber Syndrome" RELATED [MESH:D020526, UMLS:C0455717] synonym: "Weber-Gubler syndrome" EXACT [UMLS:C0455717] @@ -412475,7 +430785,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0008676"} ! rare id: MONDO:0023644 name: lip and oral cavity carcinoma def: "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." [NCIT:C9315] -subset: gard_rare synonym: "lip and oral cavity cancer" EXACT [NCIT:C9315] synonym: "lip and oral cavity carcinoma" EXACT [NCIT:C9315] synonym: "oral cancer" EXACT [NCIT:C9315] @@ -412489,7 +430798,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9342/lip-and id: MONDO:0023646 name: lipodermatosclerosis def: "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy." [GARD:0009671] -subset: gard_rare synonym: "acute lipodermatosclerosis" RELATED [GARD:0009671, MESH:C537026] synonym: "hypodermitis sclerodermaformis" RELATED [GARD:0009671] synonym: "sclerosing panniculitis" RELATED [GARD:0009671] @@ -412505,7 +430813,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9671/lipoder id: MONDO:0023650 name: littoral cell angioma of the spleen def: "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766879/] -subset: gard_rare synonym: "littoral cell angioma" RELATED [GARD:0009714, MESH:C537031] xref: MESH:C537031 {source="MONDO:equivalentTo"} xref: SCTID:418040002 {source="MONDO:equivalentTo"} @@ -412524,8 +430831,10 @@ is_a: MONDO:0021094 {source="OMIM:619281"} ! immunodeficiency disease [Term] id: MONDO:0023657 name: intellectual developmental disorder, autosomal dominant 65 +subset: gard_rare {source="GARD:18547"} synonym: "mental retardation, autosomal dominant 65" EXACT DEPRECATED [OMIM:619320] synonym: "MRD65" EXACT ABBREVIATION [OMIM:619320] +xref: GARD:18547 {source="OMIM:619320"} xref: OMIM:619320 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:619320"} is_a: MONDO:0100172 {source="OMIM:619320"} ! intellectual disability, autosomal dominant @@ -412533,8 +430842,10 @@ is_a: MONDO:0100172 {source="OMIM:619320"} ! intellectual disability, autosomal [Term] id: MONDO:0023659 name: developmental and epileptic encephalopathy 96 +subset: gard_rare {source="GARD:16445"} synonym: "DEE96" EXACT ABBREVIATION [OMIM:619340] xref: DOID:0070377 {source="MONDO:equivalentTo"} +xref: GARD:16445 {source="OMIM:619340"} xref: OMIM:619340 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:619340"} is_a: MONDO:0100062 {source="OMIM:619340"} ! developmental and epileptic encephalopathy @@ -412557,7 +430868,6 @@ is_a: MONDO:0019313 {source="OMIM:619369"} ! lymphatic malformation id: MONDO:0023663 name: obsolete macrocephaly mesodermal hamartoma spectrum comment: Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920 -subset: gard_rare synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716] synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716] synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716] @@ -412596,7 +430906,6 @@ is_a: MONDO:0025193 {source="OMIM:619473"} ! oculopharyngodistal myopathy id: MONDO:0023679 name: hematohidrosis def: "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." [GARD:0013131] -subset: gard_rare synonym: "Hematidrosis" RELATED [GARD:0013131] synonym: "Hematohidrosis" RELATED [UMLS:C0473554] xref: ICD10CM:L74.8 {source="GARD:0013131"} @@ -412635,7 +430944,6 @@ intersection_of: disease_has_location UBERON:0004114 ! tympanic cavity id: MONDO:0023691 name: maple syrup urine disease type 1A def: "A maple syrup urine disease caused by mutations in BCKDHA." [MONDO:cjm] -subset: gard_rare synonym: "maple syrup urine disease type 1A" EXACT CLINGEN_PREFERRED [] synonym: "MSUD type 1A" RELATED [GARD:0008594] xref: UMLS:C2930989 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0008594"} @@ -412647,7 +430955,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8594/maple-s id: MONDO:0023692 name: maple syrup urine disease type 1B def: "A maple syrup urine disease caused by mutations in BCKDHB." [MONDO:cjm] -subset: gard_rare synonym: "maple syrup urine disease type 1B" EXACT CLINGEN_PREFERRED [] synonym: "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex" RELATED [GARD:0008597] synonym: "MSUD type 3 (formerly)" RELATED [GARD:0008597] @@ -412661,7 +430968,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8597/maple-s id: MONDO:0023693 name: maple syrup urine disease type 2 def: "A maple syrup urine disease caused by mutations in DBT." [MONDO:cjm] -subset: gard_rare synonym: "maple syrup urine disease type 2" EXACT CLINGEN_PREFERRED [] synonym: "MSUD type 2" RELATED [GARD:0008596] synonym: "MSUD2" RELATED ABBREVIATION [GARD:0008596] @@ -412674,7 +430980,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8596/maple-s id: MONDO:0023696 name: Marinesco-Sjogren-like syndrome def: "A disease with similar features to Marinesco-Sjogren syndrome." [https://doi.org/10.1371/journal.pone.0169309] -subset: gard_rare synonym: "juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy" RELATED [GARD:0008745] synonym: "juvenile cataract, cerebellar atrophy, mental retardation, and myopathy" RELATED DEPRECATED [GARD:0008745] synonym: "Marinesco-Sjogren-like syndrome (MSLS)" RELATED [GARD:0008745] @@ -412689,7 +430994,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8745/marines [Term] id: MONDO:0023699 name: Maroteaux Fonfria syndrome -subset: gard_rare synonym: "apert syndrome with polydactyly of hands and feet" RELATED [GARD:0003397, MESH:C536023] synonym: "apparent apert syndrome with polydactyly" RELATED [GARD:0003397, MESH:C536023] xref: MESH:C536023 {source="MONDO:equivalentTo"} @@ -412702,7 +431006,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3397/marotea id: MONDO:0023704 name: Martinez Monasterio Pinheiro syndrome def: "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:3037904] -subset: gard_rare subset: n_of_one synonym: "cleft lip-palate-oligodontia-syndactyly-hair alterations" RELATED [MESH:C536027] synonym: "cleft lip/palate oligodontia syndactyly hair alterations" RELATED [GARD:0003404] @@ -412749,7 +431052,6 @@ intersection_of: disease_has_location UBERON:0003728 ! mediastinum id: MONDO:0023757 name: meralgia paresthetica def: "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." [GARD:0009417] -subset: gard_rare synonym: "bernhardt's paresthesia" RELATED [] synonym: "bernhardt-rot syndrome" RELATED [] synonym: "Bernhardt-Roth syndrome" RELATED [GARD:0009417, MESH:C537458] @@ -412768,7 +431070,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9417/meralgi [Term] id: MONDO:0023807 name: obsolete midphalangeal hair -subset: gard_rare subset: not_a_disease synonym: "Middigital hair" RELATED [GARD:0009992, OMIM:157200] synonym: "midphalangeal hair" RELATED [OMIM:157200] @@ -412780,7 +431081,6 @@ is_obsolete: true [Term] id: MONDO:0023809 name: Milner-Khallouf-Gibson syndrome -subset: gard_rare synonym: "microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia" RELATED [GARD:0003670] synonym: "Milner Khallouf Gibson syndrome" RELATED [GARD:0003670] xref: MESH:C537473 {source="MONDO:equivalentTo"} @@ -412792,7 +431092,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3670/milner- [Term] id: MONDO:0023820 name: Moebius axonal neuropathy hypogonadism -subset: gard_rare synonym: "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" RELATED [GARD:0003698] xref: MESH:C535806 {source="MONDO:equivalentTo"} xref: UMLS:C2931024 {source="GARD:0003698", source="MONDO:relatedTo"} @@ -412805,7 +431104,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3698/moebius id: MONDO:0023833 name: multifocal choroiditis def: "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." [GARD:0009824] -subset: gard_rare xref: MESH:C537374 {source="MONDO:equivalentObsolete"} xref: MESH:D000080364 {source="MONDO:equivalentTo"} xref: SCTID:414783007 {source="MONDO:equivalentTo"} @@ -412818,11 +431116,13 @@ id: MONDO:0023865 name: corneal infection def: "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." [NCIT:C83813] subset: disease_grouping +subset: gard_rare {source="GARD:22085"} subset: ordo_group_of_disorders synonym: "corneal infection" EXACT [NCIT:C83813, UMLS:C0729777] synonym: "infection of cornea" EXACT [UMLS:C0729777] synonym: "infective keratitis" EXACT [MONDO:cjm] synonym: "keratitis caused by infection" EXACT [MONDO:cjm] +xref: GARD:22085 {source="Orphanet:519278"} xref: NCIT:C83813 {source="UMLS:C0729777", source="MONDO:equivalentTo"} xref: Orphanet:519278 {source="MONDO:equivalentTo"} xref: SCTID:312428002 {source="UMLS:C0729777", source="MONDO:equivalentTo"} @@ -412836,7 +431136,6 @@ intersection_of: disease_has_location UBERON:0000964 ! cornea id: MONDO:0023868 name: melanoma associated retinopathy def: "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." [GARD:0012041] -subset: gard_rare synonym: "Melanoma Associated Retinopathy" RELATED [MESH:D059545] synonym: "Melanoma associated retinopathy" RELATED [UMLS:C0730308] synonym: "Melanoma-Associated Retinopathies" RELATED [MESH:D059545] @@ -412855,7 +431154,6 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0012041"} ! rare id: MONDO:0023873 name: obsolete Noonan-like/multiple giant cell lesion syndrome def: "OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." [GARD:0004006] -subset: gard_rare synonym: "NL/MGCLS" RELATED [GARD:0004006] xref: OMIM:163955 {source="GARD:0004006", source="MONDO:obsoleteEquivalentObsolete"} xref: UMLS:C1834120 {source="GARD:0004006", source="MONDO:notFoundInDiseaseSubset"} @@ -412890,6 +431188,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0024145 name: obsolete Pierre Robin syndrome associated with collagen disease +subset: gard_rare {source="GARD:19894"} +xref: GARD:19894 {source="MONDO:obsoleteEquivalent", source="Orphanet:138041"} xref: Orphanet:138041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -412899,6 +431199,8 @@ consider: MONDO:0018187 [Term] id: MONDO:0024147 name: obsolete Pierre Robin syndrome associated with a chromosomal anomaly +subset: gard_rare {source="GARD:19896"} +xref: GARD:19896 {source="MONDO:obsoleteEquivalent", source="Orphanet:138047"} xref: Orphanet:138047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -412908,6 +431210,8 @@ consider: MONDO:0018187 [Term] id: MONDO:0024148 name: obsolete Pierre Robin syndrome associated with branchial archs anomalies +subset: gard_rare {source="GARD:19897"} +xref: GARD:19897 {source="MONDO:obsoleteEquivalent", source="Orphanet:138050"} xref: Orphanet:138050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -412917,6 +431221,8 @@ consider: MONDO:0018187 [Term] id: MONDO:0024149 name: obsolete Pierre Robin syndrome associated with bone disease +subset: gard_rare {source="GARD:19898"} +xref: GARD:19898 {source="MONDO:obsoleteEquivalent", source="Orphanet:138055"} xref: Orphanet:138055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -412926,7 +431232,6 @@ consider: MONDO:0018187 [Term] id: MONDO:0024171 name: radio-digito-facial dysplasia -subset: gard_rare synonym: "Van Goethem syndrome" RELATED [GARD:0004629] xref: Orphanet:3014 {source="GARD:0004629"} is_a: MONDO:0002254 ! syndromic disease @@ -412996,7 +431301,6 @@ is_a: MONDO:0006580 {source="DOID:0070321"} ! miliaria [Term] id: MONDO:0024234 name: Seckel like syndrome majoor-krakauer type -subset: gard_rare synonym: "Bird-headed dwarfism microcephaly micrognathia" RELATED [GARD:0004781] is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type" xsd:anyURI {source="GARD:0004781"} @@ -413034,10 +431338,12 @@ id: MONDO:0024237 name: inherited neurodegenerative disorder def: "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." [NCIT:C97073] subset: disease_grouping +subset: gard_rare {source="GARD:20280"} subset: ordo_group_of_disorders {source="Orphanet:183500"} synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic] synonym: "hereditary neurodegenerative disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073] +xref: GARD:20280 {source="Orphanet:183500"} xref: MESH:D020271 {source="MONDO:equivalentTo"} xref: NCIT:C97073 {source="MONDO:equivalentTo"} xref: Orphanet:183500 {source="MONDO:equivalentTo"} @@ -413191,7 +431497,6 @@ is_obsolete: true id: MONDO:0024249 name: pityriasis lichenoides def: "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." [NCIT:C85013] -subset: gard_rare synonym: "acute Pityriasis Lichenoides" NARROW [MESH:D017514] synonym: "chronic Pityriasis Lichenoides" NARROW [MESH:D017514] synonym: "parapsoriasis en gouttes" RELATED [] @@ -413246,7 +431551,9 @@ relationship: excluded_subClassOf MONDO:0018020 {source="Wikipedia:Minamata_dise [Term] id: MONDO:0024252 name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome +subset: gard_rare {source="GARD:17893"} subset: ordo_malformation_syndrome +xref: GARD:17893 {source="Orphanet:488613"} xref: Orphanet:488613 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:488613"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488613"} ! syndromic intellectual disability @@ -413274,10 +431581,12 @@ id: MONDO:0024257 name: hereditary motor neuron disease def: "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:19478"} subset: ordo_group_of_disorders synonym: "genetic anterior horn cell disease" EXACT [Orphanet:98505] synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary motor neuron disease" EXACT [MONDO:patterns/hereditary] +xref: GARD:19478 {source="Orphanet:98505"} xref: Orphanet:98505 {source="MONDO:equivalentTo"} xref: SCTID:49793008 {source="MONDO:equivalentTo"} xref: UMLS:CN207018 {source="MONDO:equivalentTo"} @@ -413344,13 +431653,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024265 name: Duane syndrome type 1 def: "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." [GARD:0010763] -subset: gard_rare +subset: gard_rare {source="GARD:10763"} synonym: "Drs" RELATED [OMIM:126800] synonym: "Duane anomaly" RELATED [OMIM:126800] synonym: "Duane retraction syndrome 1" EXACT [OMIM:126800] synonym: "Duane syndrome" RELATED [OMIM:126800] synonym: "DURS1" EXACT ABBREVIATION [OMIM:126800] synonym: "retraction syndrome" RELATED [OMIM:126800] +xref: GARD:10763 {source="OMIM:126800"} xref: OMIM:126800 {source="MONDO:equivalentTo", source="GARD:0010763"} xref: Orphanet:233 {source="GARD:0010763", source="OMIM:126800"} xref: SCTID:128082002 {source="MONDO:equivalentTo"} @@ -413363,10 +431673,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10763/duane- id: MONDO:0024266 name: patent ductus arteriosus 3 def: "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18490"} synonym: "patent ductus arteriosus 3" EXACT [OMIM:617039] synonym: "patent ductus arteriosus caused by mutation in PRDM6" EXACT [MONDO:design_pattern] synonym: "PDA3" EXACT ABBREVIATION [OMIM:617039] synonym: "PRDM6 patent ductus arteriosus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18490 {source="OMIM:617039"} xref: OMIM:617039 {source="MONDO:equivalentTo"} xref: Orphanet:466729 {source="OMIM:617039"} xref: UMLS:C4310753 {source="OMIM:617039", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -413438,7 +431750,6 @@ intersection_of: disease_has_location UBERON:0000160 ! intestine id: MONDO:0024275 name: amebic dysentery def: "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." [MESH:D004404] -subset: gard_rare synonym: "Amebiases, intestinal" RELATED [MESH:D004404] synonym: "amebiasis, intestinal" RELATED [MESH:D004404] synonym: "amebic colitides" RELATED [MESH:D004404] @@ -413927,6 +432238,7 @@ id: MONDO:0024309 name: neuropathy, hereditary sensory and autonomic, type 2A def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13" [DOID:0070155] comment: Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125 +subset: gard_rare {source="GARD:15129"} synonym: "acroosteolysis, Giaccai type" RELATED [OMIM:201300] synonym: "acroosteolysis, neurogenic" RELATED [OMIM:201300] synonym: "hereditary sensory and autonomic neuropathy type 2A" RELATED [DOID:0070155] @@ -413942,6 +432254,7 @@ synonym: "neuropathy, hereditary sensory radicular, autosomal recessive" RELATED synonym: "neuropathy, hereditary sensory, type 2A" EXACT [OMIM:201300] synonym: "neuropathy, progressive sensory, of children" RELATED [OMIM:201300] xref: DOID:0070155 {source="MONDO:equivalentTo"} +xref: GARD:15129 {source="OMIM:201300"} xref: OMIM:201300 {source="DOID:0070155", source="MONDO:equivalentTo"} xref: Orphanet:970 {source="OMIM:201300"} xref: UMLS:C0751540 {source="MONDO:relatedTo", source="MedGen:148334"} @@ -414266,12 +432579,14 @@ is_a: MONDO:0005885 ! optic neuritis id: MONDO:0024336 name: vulvar adenocarcinoma def: "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." [NCIT:C6380] +subset: gard_rare {source="GARD:22007"} synonym: "adenocarcinoma of the vulva" EXACT [DOID:2098, NCIT:C6380] synonym: "adenocarcinoma of vulva" EXACT [DOID:2098, NCIT:C6380] synonym: "mammalian vulva adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "vulva adenocarcinoma" EXACT [MONDO:0002208] synonym: "vulvar adenocarcinoma" EXACT [NCIT:C6380] xref: DOID:2098 {source="MONDO:equivalentTo"} +xref: GARD:22007 {source="Orphanet:494454"} xref: NCIT:C6380 {source="DOID:2098", source="MONDO:equivalentTo"} xref: Orphanet:494454 {source="MONDO:equivalentTo"} xref: UMLS:C1336975 {source="DOID:2098", source="MONDO:equivalentTo", source="NCIT:C6380"} @@ -414823,7 +433138,6 @@ relationship: disease_has_location UBERON:0001016 ! nervous system id: MONDO:0024418 name: muscular fibrosis multifocal obstructed vessels comment: Editor note: not in ORDO as of Apr 29 2018 -subset: gard_rare xref: Orphanet:2033 {source="MONDO:equivalentObsolete", source="GARD:0003857"} is_a: MONDO:0002254 ! syndromic disease @@ -414846,7 +433160,6 @@ intersection_of: disease_has_inflammation_site UBERON:0035845 ! enthesis id: MONDO:0024421 name: short stature contractures hypotonia comment: Editor note: disappeared from Orphanet? -subset: gard_rare synonym: "Hennekam Koss de Geest syndrome" RELATED [GARD:0004839] xref: Orphanet:2858 {source="GARD:0004839"} is_a: MONDO:0002254 ! syndromic disease @@ -414971,7 +433284,7 @@ intersection_of: disease_has_location UBERON:0034986 ! sacral nerve plexus id: MONDO:0024455 name: autosomal dominant Robinow syndrome 1 def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:2013"} synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [OMIM:180700] synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT [MONDO:design_pattern] synonym: "DRS1" EXACT ABBREVIATION [OMIM:180700] @@ -414982,6 +433295,7 @@ synonym: "Robinow dwarfism" RELATED [OMIM:180700] synonym: "Robinow syndrome, autosomal dominant 1" EXACT [OMIM:180700] synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060766 {source="MONDO:equivalentTo"} +xref: GARD:2013 {source="OMIM:180700"} xref: OMIM:180700 {source="MONDO:equivalentTo"} xref: Orphanet:3107 {source="OMIM:180700"} xref: Orphanet:97360 {source="OMIM:180700"} @@ -415001,7 +433315,7 @@ id: MONDO:0024456 name: anterior segment dysgenesis 3 def: "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" [http://disorders.eyes.arizona.edu/disorders/iridogoniodysgenesis-type-1] comment: Editor note: check GARD re 2482 -subset: gard_rare +subset: gard_rare {source="GARD:2978"} synonym: "anterior segment dysgenesis 3" EXACT [MESH:C535535, OMIM:601631] synonym: "anterior segment dysgenesis 3, multiple subtypes" EXACT [OMIM:601631, OMIM:genemap2] synonym: "ASGD3" EXACT ABBREVIATION [MESH:C535535, OMIM:601631] @@ -415017,6 +433331,7 @@ synonym: "iridogoniodysgenesis type 1" EXACT [GARD:0002978] synonym: "iridogoniodysgenesis, type 1" EXACT [MESH:C535535, MONDO:Lexical, OMIM:601631] synonym: "iris hypoplasia with glaucoma" RELATED [MESH:C535535, OMIM:601631] xref: DOID:0080608 {source="MONDO:equivalentTo"} +xref: GARD:2978 {source="OMIM:601631"} xref: MESH:C535535 {source="MONDO:equivalentTo"} xref: OMIM:601631 {source="MONDO:equivalentTo"} xref: Orphanet:91483 {source="MONDO:relatedTo", source="OMIM:601631"} @@ -415036,7 +433351,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2482/glaucom id: MONDO:0024457 name: neurodegeneration with brain iron accumulation 2A comment: AR PLA2G6 -subset: gard_rare +subset: gard_rare {source="GARD:3957"} subset: ordo_disease {source="Orphanet:35069"} synonym: "Hunter Carpenter Macdonald syndrome" RELATED [GARD:0002751] synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [Orphanet:2174] @@ -415059,6 +433374,7 @@ synonym: "phospholipase A2-associated neurodegeneration" EXACT [Orphanet:35069] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:35069] synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600, Orphanet:35069] xref: DOID:0110735 {source="MONDO:equivalentTo"} +xref: GARD:3957 {source="Orphanet:35069"} xref: ICD10CM:G23.0 {source="Orphanet:35069/attributed", source="Orphanet:35069/ntbt", source="Orphanet:35069"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536071 {source="MONDO:equivalentTo"} @@ -415138,6 +433454,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:155600"} ! inheri [Term] id: MONDO:0024463 name: ovarian dysgenesis 1 +subset: gard_rare {source="GARD:18039"} synonym: "gonadal dysgenesis, 20 type" RELATED [OMIM:233300] synonym: "gonadal dysgenesis, XX type" RELATED [OMIM:233300] synonym: "ODG1" EXACT ABBREVIATION [OMIM:233300] @@ -415148,6 +433465,7 @@ synonym: "ovarian failure, hypergonadotropic" RELATED [OMIM:233300] synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] synonym: "XXGD" RELATED ABBREVIATION [OMIM:233300] xref: DOID:0080493 {source="MONDO:equivalentTo"} +xref: GARD:18039 {source="OMIM:233300"} xref: OMIM:233300 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:233300"} xref: UMLS:C0949595 {source="OMIM:233300"} @@ -415287,6 +433605,8 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant [Term] id: MONDO:0024471 name: obsolete non-inflammatory vasculopathy +subset: gard_rare {source="GARD:22014"} +xref: GARD:22014 {source="MONDO:obsoleteEquivalent", source="Orphanet:496924"} xref: Orphanet:496924 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -415297,6 +433617,7 @@ is_obsolete: true id: MONDO:0024472 name: boutonneuse fever def: "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." [PMID:18760001] +subset: gard_rare {source="GARD:19031", source="GARD:19781"} subset: ordo_disease {source="Orphanet:83313"} subset: ordo_etiological_subtype {source="Orphanet:101334"} synonym: "African tick typhus" EXACT [DOID:14095, PMID:18760001] @@ -415315,6 +433636,8 @@ synonym: "South African tick-bite fever" EXACT [DOID:14095] synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001] xref: DOID:14095 {source="MONDO:equivalentTo", source="EFO:0007179"} xref: EFO:0007179 {source="MONDO:equivalentTo"} +xref: GARD:19031 {source="Orphanet:83313"} +xref: GARD:19781 {source="Orphanet:101334"} xref: ICD10CM:A77.1 {source="Orphanet:101334/ntbt", source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="Orphanet:83313/ntbt"} xref: ICD9:082.1 {source="DOID:14095"} xref: MedDRA:10006045 {source="Orphanet:83313", source="Orphanet:83313/e"} @@ -415721,7 +434044,7 @@ id: MONDO:0024503 name: digestive system neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." [NCIT:C27721] subset: disease_grouping -subset: gard_rare {source="GARD:0002437"} +subset: gard_rare {source="GARD:2437"} subset: ordo_group_of_disorders {source="Orphanet:100092"} synonym: "alimentary part of gastrointestinal system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EXACT [MONDO:patterns/location] @@ -415750,6 +434073,7 @@ synonym: "GEP-NEN" RELATED [Orphanet:100092] synonym: "GEP-NET" RELATED [Orphanet:100092] synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +xref: GARD:2437 {source="Orphanet:100092"} xref: MESH:C535650 {source="MONDO:equivalentTo"} xref: NCIT:C27721 {source="MONDO:equivalentTo"} xref: Orphanet:100092 {source="MONDO:equivalentTo"} @@ -415766,6 +434090,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2437/gastro- id: MONDO:0024504 name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor def: "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." [NCIT:C4446] +subset: gard_rare {source="GARD:22055"} subset: ordo_disease synonym: "carcinoid neoplasm of pancreas" EXACT [NCIT:C4446] synonym: "carcinoid neoplasm of the pancreas" EXACT [NCIT:C4446] @@ -415792,6 +434117,7 @@ synonym: "serotonin-producing tumor of pancreas" EXACT [NCIT:C4446] synonym: "serotonin-producing tumor of the pancreas" EXACT [NCIT:C4446] synonym: "serotonin-producing tumour of pancreas" EXACT OMO:0003005 [] synonym: "serotonin-producing tumour of the pancreas" EXACT OMO:0003005 [] +xref: GARD:22055 {source="Orphanet:506090"} xref: NCIT:C4446 {source="MONDO:equivalentTo"} xref: Orphanet:506090 {source="MONDO:equivalentTo"} xref: UMLS:C0345933 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4446"} @@ -415861,11 +434187,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0024508 name: epilepsy, hot water, 1 +subset: gard_rare {source="GARD:18286"} synonym: "bathing epilepsy" RELATED [OMIM:613339] synonym: "epilepsy, hot water, 1" EXACT [MONDO:Lexical, OMIM:613339] synonym: "HWE1" EXACT ABBREVIATION [OMIM:613339] synonym: "water immersion epilepsy" RELATED [OMIM:613339] xref: DOID:0081106 {source="MONDO:equivalentTo"} +xref: GARD:18286 {source="OMIM:613339"} xref: OMIM:613339 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="OMIM:613339"} xref: UMLS:C0393729 {source="OMIM:613339"} @@ -415949,11 +434277,13 @@ is_a: MONDO:0018470 {source="OMIM:617805"} ! renal agenesis [Term] id: MONDO:0024521 name: aortic aneurysm, familial abdominal, 1 +subset: gard_rare {source="GARD:16491"} synonym: "AAA1" EXACT ABBREVIATION [OMIM:100070] synonym: "abdominal aortic aneurysm" RELATED [OMIM:100070] synonym: "aneurysm, abdominal aortic" RELATED [OMIM:100070] synonym: "aortic aneurysm, familial abdominal 1" EXACT [OMIM:100070, OMIM:genemap2] synonym: "aortic aneurysm, familial abdominal, 1" EXACT [OMIM:100070] +xref: GARD:16491 {source="OMIM:100070"} xref: OMIM:100070 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="OMIM:100070"} xref: UMLS:C0162871 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:100070"} @@ -415965,6 +434295,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024522 name: amyloidosis, primary localized cutaneous, 1 def: "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18637"} synonym: "amyloidosis 9" EXACT [GARD:0000132, OMIM:105250] synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250] synonym: "amyloidosis, primary cutaneous, 1" EXACT [OMIM:105250] @@ -415977,6 +434308,7 @@ synonym: "PCA" RELATED ABBREVIATION [OMIM:105250] synonym: "PLCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105250] synonym: "primary cutaneous amyloidosis caused by mutation in OSMR" EXACT [MONDO:design_pattern] xref: DOID:0080930 {source="MONDO:equivalentTo"} +xref: GARD:18637 {source="OMIM:105250"} xref: OMIM:105250 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="OMIM:105250"} xref: UMLS:C0268398 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:105250"} @@ -415989,6 +434321,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024523 name: aortic valve disease 1 def: "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18470"} synonym: "aortic stenosis, calcific" RELATED [OMIM:109730] synonym: "aortic valve disease" RELATED [OMIM:109730] synonym: "aortic valve disease 1" EXACT [OMIM:109730] @@ -416001,6 +434334,7 @@ synonym: "bicuspid aortic valve" RELATED [OMIM:109730] synonym: "NOTCH1 aortic valve disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Notch1 aortic valve disease" EXACT [MONDO:design_pattern] xref: DOID:0080333 {source="MONDO:equivalentTo"} +xref: GARD:18470 {source="OMIM:109730"} xref: OMIM:109730 {source="MONDO:equivalentTo", source="DOID:0080333"} xref: Orphanet:402075 {source="OMIM:109730"} xref: UMLS:C0149630 {source="OMIM:109730", source="MONDO:notFoundInDiseaseSubset"} @@ -416028,6 +434362,7 @@ relationship: excluded_subClassOf MONDO:0024255 {source="MESH:C567273"} ! obsole [Term] id: MONDO:0024525 name: Fanconi renotubular syndrome 1 +subset: gard_rare {source="GARD:9118"} synonym: "adult Fanconi syndrome" RELATED [OMIM:134600] synonym: "DeToni-Debré-Fanconi syndrome" EXACT [Orphanet:3337] synonym: "Fanconi renotubular syndrome" RELATED [OMIM:134600] @@ -416039,6 +434374,7 @@ synonym: "primary Fanconi renal syndrome" EXACT [Orphanet:3337] synonym: "primary Fanconi renotubular syndrome" EXACT [Orphanet:3337] synonym: "renal Fanconi syndrome" RELATED [OMIM:134600] xref: DOID:0080757 {source="MONDO:equivalentTo"} +xref: GARD:9118 {source="Orphanet:3337"} xref: OMIM:134600 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="MONDO:equivalentTo", source="OMIM:134600"} xref: UMLS:C0341703 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:134600"} @@ -416051,12 +434387,14 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0024526 name: Zimmermann-Laband syndrome 1 def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15071"} synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [OMIM:135500] synonym: "KCNH1 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Laband syndrome" RELATED [OMIM:135500] synonym: "Zimmermann-Laband syndrome 1" EXACT [OMIM:135500] synonym: "Zimmermann-Laband syndrome caused by mutation in KCNH1" EXACT [MONDO:design_pattern] synonym: "ZLS1" EXACT ABBREVIATION [OMIM:135500] +xref: GARD:15071 {source="OMIM:135500"} xref: OMIM:135500 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="OMIM:135500"} xref: UMLS:C0796013 {source="OMIM:135500"} @@ -416070,10 +434408,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0024527 name: glomerulopathy with fibronectin deposits 1 +subset: gard_rare {source="GARD:9268"} synonym: "GFND1" EXACT ABBREVIATION [OMIM:137950] synonym: "glomerulopathy with fibronectin deposits 1" EXACT [OMIM:137950] synonym: "glomerulopathy with giant fibrillar deposits" RELATED [OMIM:137950] synonym: "lobular glomerulopathy, familial" RELATED [OMIM:137950] +xref: GARD:9268 {source="OMIM:137950"} xref: OMIM:137950 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="OMIM:137950"} xref: UMLS:C0403557 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:137950", source="GARD:0009268"} @@ -416083,12 +434423,14 @@ is_a: MONDO:0007671 {source="OMIM:137950"} ! fibronectin glomerulopathy id: MONDO:0024528 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 def: "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13174"} synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] synonym: "PEOA1" EXACT ABBREVIATION [OMIM:157640] synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" EXACT [OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant 1" EXACT [OMIM:157640] xref: DOID:0111521 {source="MONDO:equivalentTo"} +xref: GARD:13174 {source="OMIM:157640"} xref: OMIM:157640 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:157640"} xref: UMLS:C1834846 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:157640"} @@ -416101,6 +434443,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0024529 name: MVP1 +subset: gard_rare {source="GARD:3688"} synonym: "barlow syndrome" RELATED [OMIM:157700] synonym: "click-murmur syndrome" RELATED [OMIM:157700] synonym: "floppy mitral valve" RELATED [OMIM:157700] @@ -416114,6 +434457,7 @@ synonym: "myxomatous mitral valve prolapse 1" RELATED [OMIM:157700] synonym: "myxomatous valvular disease, familial" RELATED [OMIM:157700] synonym: "PMV" RELATED ABBREVIATION [GARD:0003688] synonym: "prolapsed mitral valve" RELATED [GARD:0003688] +xref: GARD:3688 {source="OMIM:157700"} xref: OMIM:157700 {source="MONDO:equivalentTo"} xref: Orphanet:741 {source="OMIM:157700"} xref: UMLS:C0026267 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:157700"} @@ -416159,6 +434503,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024532 name: otofaciocervical syndrome 1 def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:16502"} synonym: "EYA1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OFC" BROAD ABBREVIATION [OMIM:166780] synonym: "OFC1" RELATED ABBREVIATION [OMIM:166780] @@ -416166,6 +434511,7 @@ synonym: "OTFCS" BROAD ABBREVIATION [OMIM:166780] synonym: "otofaciocervical syndrome" BROAD [OMIM:166780, OMIM:genemap2] synonym: "otofaciocervical syndrome 1" EXACT [OMIM:166780] synonym: "otofaciocervical syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern] +xref: GARD:16502 {source="OMIM:166780"} xref: OMIM:166780 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:166780"} xref: UMLS:C3714941 {source="OMIM:166780", source="MONDO:equivalentTo"} @@ -416269,6 +434615,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024537 name: Brown-Vialetto-van Laere syndrome 1 def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18010"} synonym: "Brown-Vialetto-Van Laere syndrome 1" EXACT [OMIM:211530] synonym: "Brown-Vialetto-van Laere syndrome 1" EXACT CLINGEN_PREFERRED [] synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" EXACT [MONDO:design_pattern] @@ -416280,6 +434627,7 @@ synonym: "Riboflavin transporter deficiency 2" EXACT [Orphanet:572543] synonym: "RTD2" EXACT [Orphanet:572543] synonym: "SLC52A3 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080785 {source="MONDO:equivalentTo"} +xref: GARD:18010 {source="Orphanet:572543"} xref: ICD10CM:G12.1 {source="Orphanet:572543", source="MONDO:mondoSubClassOfSource"} xref: NCIT:C133724 {source="MONDO:equivalentTo"} xref: OMIM:211530 {source="MONDO:equivalentTo", source="Orphanet:572543"} @@ -416486,6 +434834,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9676/miyoshi id: MONDO:0024546 name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1 def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15216"} synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100] synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100] synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100] @@ -416498,6 +434847,7 @@ synonym: "Pho, autosomal recessive" RELATED [OMIM:259100] synonym: "PHOAR1" RELATED ABBREVIATION [OMIM:259100] synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern] synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100] +xref: GARD:15216 {source="OMIM:259100"} xref: OMIM:259100 {source="MONDO:equivalentTo"} xref: Orphanet:1525 {source="OMIM:259100", source="MONDO:directSiblingOf"} xref: Orphanet:2796 {source="OMIM:259100"} @@ -416514,12 +434864,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024547 name: pancreatic agenesis 1 def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." [MONDO:design_pattern] +subset: gard_rare {source="GARD:15220"} synonym: "Pagen" RELATED [OMIM:260370] synonym: "PAGEN1" RELATED ABBREVIATION [OMIM:260370] synonym: "pancreatic agenesis 1" EXACT CLINGEN_PREFERRED [OMIM:260370] synonym: "pancreatic agenesis caused by mutation in PDX1" EXACT [MONDO:design_pattern] synonym: "pancreatic hypoplasia, congenital" RELATED [OMIM:260370] synonym: "PDX1 pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:15220 {source="OMIM:260370"} xref: OMIM:260370 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="OMIM:260370"} xref: UMLS:C1850096 {source="OMIM:260370", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2805"} @@ -416533,6 +434885,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024548 name: peeling skin syndrome 1 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17259"} subset: ordo_clinical_subtype {source="Orphanet:263553"} synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deciduous skin" RELATED [OMIM:270300] @@ -416550,6 +434903,7 @@ synonym: "PSS type B" EXACT [Orphanet:263553] synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300] synonym: "skin peeling, familial continuous generalised" RELATED OMO:0003005 [] synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] +xref: GARD:17259 {source="Orphanet:263553"} xref: ICD10CM:Q80.8 {source="Orphanet:263553", source="Orphanet:263553/attributed", source="Orphanet:263553/ntbt"} xref: OMIM:270300 {source="MONDO:equivalentTo", source="Orphanet:263553", source="Orphanet:263553/ntbt"} xref: Orphanet:263543 {source="OMIM:270300"} @@ -416579,6 +434933,7 @@ is_a: MONDO:0000170 {source="MONDO:0024549/inferred", source="MONDO:Redundant", id: MONDO:0024550 name: frontometaphyseal dysplasia 1 def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15293"} synonym: "FLNA frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fmd" RELATED [OMIM:305620] synonym: "FMD1" RELATED ABBREVIATION [OMIM:305620] @@ -416586,6 +434941,7 @@ synonym: "FRONTOMETAPHYSEAL dysplasia 1" RELATED [OMIM:305620] synonym: "frontometaphyseal dysplasia 1, X-linked recessive" EXACT [OMIM:305620, OMIM:genemap2] synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:design_pattern] xref: DOID:0111786 {source="MONDO:equivalentTo"} +xref: GARD:15293 {source="OMIM:305620"} xref: OMIM:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="OMIM:305620"} xref: UMLS:C0265293 {source="OMIM:305620", source="Orphanet:1826/e", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1826"} @@ -416602,6 +434958,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024551 name: X-linked lymphoproliferative disease due to SH2D1A deficiency def: "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." [Orphanet:538931] +subset: gard_rare {source="GARD:7906"} subset: ordo_disease synonym: "Duncan disease" RELATED [OMIM:308240] synonym: "EBV infection, Severe, susceptibility to" RELATED [OMIM:308240] @@ -416617,6 +434974,7 @@ synonym: "Purtilo syndrome" RELATED [OMIM:308240] synonym: "X-linked lymphoproliferative disease due to SH2D1A deficiency" EXACT CLINGEN_PREFERRED [] synonym: "Xlp" RELATED [OMIM:308240] synonym: "XLP1" RELATED ABBREVIATION [OMIM:308240] +xref: GARD:7906 {source="Orphanet:538931"} xref: OMIM:308240 {source="MONDO:equivalentTo", source="Orphanet:538931"} xref: Orphanet:2442 {source="OMIM:308240"} xref: Orphanet:538931 {source="MONDO:equivalentTo"} @@ -416718,12 +435076,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024556 name: epilepsy, familial focal, with variable foci 1 def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18202"} synonym: "DEPDC5 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "epilepsy, familial focal, with variable foci" RELATED [OMIM:604364] synonym: "epilepsy, familial focal, with variable foci 1" EXACT [OMIM:604364] synonym: "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5" EXACT [MONDO:design_pattern] synonym: "epilepsy, partial, with variable foci" RELATED [OMIM:604364] synonym: "FFEVF1" RELATED ABBREVIATION [OMIM:604364] +xref: GARD:18202 {source="OMIM:604364"} xref: NCIT:C161005 {source="MONDO:equivalentTo"} xref: OMIM:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="OMIM:604364"} @@ -416737,6 +435097,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024557 name: ataxia-telangiectasia-like disorder 1 def: "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17209"} synonym: "ataxia - telangiectasia-like disorder caused by mutation in MRE11" EXACT [] synonym: "ataxia-telangiectasia-like disorder 1" EXACT [OMIM:604391] synonym: "ataxia-telangiectasia-like disorder caused by mutation in MRE11" EXACT [MONDO:design_pattern] @@ -416744,6 +435105,7 @@ synonym: "Atld" RELATED [OMIM:604391] synonym: "ATLD1" RELATED ABBREVIATION [OMIM:604391] synonym: "MRE11 ataxia - telangiectasia-like disorder" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MRE11 ataxia-telangiectasia-like disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:17209 {source="Orphanet:251347"} xref: NCIT:C132224 {source="MONDO:equivalentTo"} xref: OMIM:604391 {source="MONDO:equivalentTo"} xref: Orphanet:251347 {source="MONDO:equivalentTo", source="OMIM:604391"} @@ -416758,12 +435120,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024558 name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1 def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18068"} synonym: "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" EXACT [MONDO:design_pattern] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" EXACT CLINGEN_PREFERRED [OMIM:605432] synonym: "Rusat" RELATED [OMIM:605432] synonym: "RUSAT1" RELATED ABBREVIATION [OMIM:605432] synonym: "thrombocytopenia, congenital, with radioulnar synostosis" RELATED [OMIM:605432] +xref: GARD:18068 {source="OMIM:605432"} xref: OMIM:605432 {source="MONDO:equivalentTo"} xref: Orphanet:71289 {source="OMIM:605432"} xref: UMLS:C1854273 {source="Orphanet:71289", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:605432"} @@ -416776,6 +435140,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0024559 name: aortic aneurysm, familial thoracic 1 +subset: gard_rare {source="GARD:1654", source="GARD:15408"} synonym: "AAT1" EXACT ABBREVIATION [OMIM:607086] synonym: "aneurysm, thoracic aortic" RELATED [OMIM:607086] synonym: "annuloaortic ectasia" RELATED [OMIM:607086] @@ -416783,6 +435148,8 @@ synonym: "aortic aneurysm, familial thoracic" RELATED [OMIM:607086] synonym: "aortic dissection, familial" RELATED [OMIM:607086] synonym: "Erdheim cystic medial necrosis of aorta" RELATED [OMIM:607086] synonym: "FAA1" RELATED ABBREVIATION [OMIM:607086] +xref: GARD:15408 {source="OMIM:607086"} +xref: GARD:1654 {source="Orphanet:229"} xref: MESH:C562834 {source="MONDO:equivalentTo"} xref: OMIM:607086 {source="MONDO:equivalentTo"} xref: Orphanet:229 {source="MONDO:equivalentTo", source="OMIM:607086"} @@ -416794,10 +435161,12 @@ is_a: MONDO:0019625 {source="OMIM:607086"} ! familial thoracic aortic aneurysm a [Term] id: MONDO:0024560 name: PDA1 +subset: gard_rare {source="GARD:7342"} synonym: "patent ductus arteriosus 1" RELATED [OMIM:607411] synonym: "patent ductus arteriosus, susceptibility to" EXACT [OMIM:607411, OMIM:genemap2] synonym: "PDA" RELATED ABBREVIATION [OMIM:607411] synonym: "PDA1" EXACT ABBREVIATION [OMIM:607411] +xref: GARD:7342 {source="OMIM:607411"} xref: OMIM:607411 {source="MONDO:equivalentTo"} xref: Orphanet:466729 {source="OMIM:607411"} xref: UMLS:C4282128 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607411"} @@ -416873,6 +435242,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024564 name: cerebroretinal microangiopathy with calcifications and cysts 1 def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18441"} synonym: "cerebroretinal microangiopathy with calcifications and cysts" BROAD [OMIM:612199, OMIM:genemap2] synonym: "cerebroretinal microangiopathy with calcifications and cysts 1" EXACT CLINGEN_PREFERRED [OMIM:612199] synonym: "Coats plus syndrome" RELATED [OMIM:612199] @@ -416880,6 +435250,7 @@ synonym: "Coats plus syndrome caused by mutation in CTC1" EXACT [MONDO:design_pa synonym: "Crmcc" RELATED [OMIM:612199] synonym: "CRMCC1" RELATED ABBREVIATION [OMIM:612199] synonym: "CTC1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18441 {source="OMIM:612199"} xref: OMIM:612199 {source="MONDO:equivalentTo"} xref: Orphanet:313838 {source="OMIM:612199"} xref: UMLS:C2677299 {source="OMIM:612199", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:313838"} @@ -416908,10 +435279,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0024566 name: febrile seizures, familial, 11 +subset: gard_rare {source="GARD:18283"} synonym: "convulsions, familial febrile, 11" RELATED [OMIM:614418] synonym: "FEB11" RELATED ABBREVIATION [OMIM:614418] synonym: "febrile seizures, familial, 11" EXACT [OMIM:614418] xref: DOID:0111308 {source="MONDO:equivalentTo"} +xref: GARD:18283 {source="OMIM:614418"} xref: OMIM:614418 {source="MONDO:equivalentTo"} xref: Orphanet:165805 {source="OMIM:614418"} xref: UMLS:C3280734 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614418"} @@ -416924,11 +435297,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024567 name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1 def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18457"} synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" EXACT [OMIM:615419] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" EXACT [MONDO:design_pattern] synonym: "Ihprf" RELATED [OMIM:615419] synonym: "IHPRF1" RELATED ABBREVIATION [OMIM:615419] synonym: "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +xref: GARD:18457 {source="OMIM:615419"} xref: OMIM:615419 {source="MONDO:equivalentTo"} xref: Orphanet:371364 {source="OMIM:615419"} xref: UMLS:C3809454 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615419"} @@ -416941,6 +435316,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0024568 name: infantile liver failure syndrome 1 def: "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:13114"} subset: ordo_disease {source="Orphanet:370088"} synonym: "acute infantile liver failure - multisystemic involvement syndrome" RELATED [] synonym: "ILFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615438] @@ -416951,6 +435327,7 @@ synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:6154 synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern] xref: DOID:0080717 {source="MONDO:equivalentTo"} +xref: GARD:13114 {source="Orphanet:370088"} xref: ICD10CM:K72.0 {source="Orphanet:370088", source="Orphanet:370088/attributed", source="Orphanet:370088/ntbt"} xref: OMIM:615438 {source="MONDO:equivalentTo", source="Orphanet:370088", source="Orphanet:370088/e"} xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"} @@ -416965,9 +435342,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0024569 name: optic atrophy 8 +subset: gard_rare {source="GARD:16148"} synonym: "OPA8" EXACT ABBREVIATION [OMIM:616648] synonym: "optic atrophy 8" EXACT [OMIM:616648] xref: DOID:0111439 {source="MONDO:equivalentTo"} +xref: GARD:16148 {source="OMIM:616648"} xref: OMIM:616648 {source="MONDO:equivalentTo"} xref: Orphanet:1215 {source="OMIM:616648"} xref: UMLS:C4085249 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:616648", source="MONDO:directSiblingOf"} @@ -416979,11 +435358,13 @@ relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:6 id: MONDO:0024570 name: hyperparathyroidism 4 def: "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18256"} synonym: "familial isolated hyperparathyroidism caused by mutation in GCM2" EXACT [MONDO:design_pattern] synonym: "GCM2 familial isolated hyperparathyroidism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HRPT4" RELATED ABBREVIATION [OMIM:617343] synonym: "hyperparathyroidism 4" EXACT [OMIM:617343] synonym: "hyperparathyroidism type 4" EXACT [MONDORULE:1, OMIM:617343] +xref: GARD:18256 {source="OMIM:617343"} xref: OMIM:617343 {source="MONDO:equivalentTo"} xref: Orphanet:99879 {source="OMIM:617343"} xref: UMLS:C4479229 {source="MONDO:equivalentTo", source="OMIM:617343"} @@ -417180,6 +435561,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:43351 ! Dientamoeba id: MONDO:0024609 name: vulvar squamous cell carcinoma def: "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" [NCIT:C4052] +subset: gard_rare {source="GARD:22005"} synonym: "epidermoid carcinoma of the vulva" EXACT [NCIT:C4052] synonym: "epidermoid carcinoma of vulva" EXACT [NCIT:C4052] synonym: "epidermoid cell carcinoma of the vulva" EXACT [NCIT:C4052] @@ -417196,6 +435578,7 @@ synonym: "vulvar squamous cell cancer" EXACT [NCIT:C4052] synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052] xref: DOID:2101 {source="MONDO:equivalentTo"} xref: EFO:1000624 {source="MONDO:equivalentTo"} +xref: GARD:22005 {source="Orphanet:494448"} xref: NCIT:C4052 {source="DOID:2101", source="MONDO:equivalentTo", source="EFO:1000624"} xref: Orphanet:494448 {source="MONDO:equivalentTo"} xref: SCTID:254895003 {source="DOID:2101", source="MONDO:equivalentTo"} @@ -418069,7 +436452,6 @@ id: MONDO:0024677 name: pancreatic insulinoma def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." [NCIT:C95598] comment: Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma. Obs reason: duplicate. This will be merged with MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor -subset: gard_rare subset: ordo_disease {source="Orphanet:97279"} synonym: "adenoma, beta cell" RELATED [MESH:D007340] synonym: "adenoma, beta-cell" RELATED [MESH:D007340] @@ -418135,7 +436517,7 @@ is_a: MONDO:0004643 {source="NCIT:C3177"} ! myeloid leukemia id: MONDO:0024686 name: tenosynovial giant cell tumor, diffuse type def: "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." [NCIT:C3401] -subset: gard_rare {source="GARD:0007396"} +subset: gard_rare {source="GARD:7396"} subset: ordo_disease {source="Orphanet:66627"} synonym: "diffuse giant cell neoplasm of tendon sheath" EXACT [NCIT:C3401] synonym: "diffuse giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3401] @@ -418170,6 +436552,7 @@ synonym: "villous tenosynovitis" EXACT [DOID:2702] xref: DOID:2702 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:1001106"} xref: DOID:9898 {source="MONDO:equivalentTo"} xref: EFO:1001106 {source="MONDO:equivalentTo"} +xref: GARD:7396 {source="Orphanet:66627"} xref: ICD10CM:M12.2 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="Orphanet:66627/e"} xref: ICD10CM:M12.20 {source="DOID:9898"} xref: ICD9:719.2 {source="DOID:9898"} @@ -419002,6 +437385,8 @@ property_value: RO:0002175 NCBITaxon:9935 {source="https://orcid.org/0000-0002-4 [Term] id: MONDO:0024987 name: obsolete genetic urogenital tract malformation +subset: gard_rare {source="GARD:20009"} +xref: GARD:20009 {source="MONDO:obsoleteEquivalent", source="Orphanet:156622"} xref: Orphanet:156622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -419032,7 +437417,6 @@ property_value: RO:0002175 NCBITaxon:9822 {source="https://orcid.org/0000-0002-4 [Term] id: MONDO:0024996 name: obsolete Usher syndrome, type 2b -subset: gard_rare synonym: "US2B" RELATED ABBREVIATION [GARD:0005441] synonym: "USH2B" RELATED ABBREVIATION [GARD:0005441] xref: OMIM:276905 {source="GARD:0005441", source="MONDO:obsoleteEquivalentObsolete"} @@ -419501,7 +437885,7 @@ property_value: RO:0002175 NCBITaxon:8782 {source="https://orcid.org/0000-0002-4 id: MONDO:0025193 name: oculopharyngodistal myopathy def: "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." [https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy] -subset: gard_rare {source="GARD:0012592"} +subset: gard_rare {source="GARD:12592"} subset: ordo_disease {source="Orphanet:98897"} subset: ordo_inheritance_inconsistent synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [OMIM:164310] @@ -419509,6 +437893,7 @@ synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897] synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897] xref: DOID:0081296 {source="MONDO:equivalentTo"} +xref: GARD:12592 {source="Orphanet:98897"} xref: ICD10CM:G71.0 {source="Orphanet:98897", source="Orphanet:98897/attributed", source="Orphanet:98897/ntbt"} xref: MESH:C563508 {source="MONDO:equivalentTo"} xref: OMIMPS:164310 {source="MONDO:equivalentTo"} @@ -419635,10 +438020,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0025353 name: developmental and epileptic encephalopathy, 90 +subset: gard_rare {source="GARD:15286"} synonym: "DEE90" EXACT ABBREVIATION [OMIM:301058] synonym: "developmental and epileptic encephalopathy 90" EXACT [OMIM:301058] synonym: "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant" EXACT [OMIM:301058, OMIM:genemap2] xref: DOID:0070381 {source="MONDO:equivalentTo"} +xref: GARD:15286 {source="OMIM:301058"} xref: OMIM:301058 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:301058"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -420360,9 +438747,11 @@ property_value: RO:0002175 NCBITaxon:9913 {source="PMID:31845178", source="https id: MONDO:0025511 name: obsolete inherited neuroendocrine tumor def: "OBSOLETE. An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21015"} synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847] synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] +xref: GARD:21015 {source="Orphanet:271847", source="MONDO:obsoleteEquivalent"} xref: Orphanet:271847 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202530 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -420404,7 +438793,7 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity id: MONDO:0025514 name: livedoid vasculopathy def: "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." [GARD:0012784] -subset: gard_rare +subset: gard_rare {source="GARD:12784"} synonym: "idiopathic atrophic blanche" RELATED [] synonym: "livedo reticularis with summer ulcerations" RELATED [GARD:0012784] synonym: "livedo reticularis with winter ulcerations" RELATED [GARD:0012784] @@ -420414,6 +438803,7 @@ synonym: "livedoid vasculopathy" EXACT [DOID:0040099] synonym: "segmental hyalinizing vasculopathy" RELATED [GARD:0012784] synonym: "white atrophy" RELATED [] xref: DOID:0040099 {source="MONDO:equivalentTo"} +xref: GARD:12784 {source="Orphanet:542643"} xref: ICD10CM:L95.0 {source="MONDO:equivalentTo", source="DOID:0040099"} xref: ICD9:709.1 {source="GARD:0012784"} xref: ICD9CM:709.1 {source="DOID:0040099"} @@ -420497,7 +438887,9 @@ is_a: MONDO:0015626 {source="OMIM:500013"} ! Charcot-Marie-Tooth disease [Term] id: MONDO:0025667 name: limbal stem cell deficiency +subset: gard_rare {source="GARD:20123"} subset: ordo_disease +xref: GARD:20123 {source="Orphanet:171673"} xref: Orphanet:171673 {source="MONDO:equivalentTo"} xref: UMLS:C1561989 {source="MONDO:equivalentTo", source="Orphanet:171673"} is_a: MONDO:0000942 {source="Orphanet:171673"} ! corneal disorder @@ -420505,7 +438897,9 @@ is_a: MONDO:0000942 {source="Orphanet:171673"} ! corneal disorder [Term] id: MONDO:0025690 name: microcephaly, epilepsy, and diabetes syndrome 2 +subset: gard_rare {source="GARD:18439"} synonym: "MEDS2" EXACT ABBREVIATION [OMIM:619278] +xref: GARD:18439 {source="OMIM:619278"} xref: OMIM:619278 {source="MONDO:equivalentTo"} is_a: MONDO:0100328 {source="OMIM:619278"} ! microcephaly, epilepsy, and diabetes syndrome @@ -420519,8 +438913,10 @@ is_a: MONDO:0044807 {source="OMIM:619291"} ! inherited dystonia [Term] id: MONDO:0025699 name: Coffin-Siris syndrome 12 +subset: gard_rare {source="GARD:16443"} synonym: "CSS12" EXACT ABBREVIATION [OMIM:619325] xref: DOID:0112370 {source="MONDO:equivalentTo"} +xref: GARD:16443 {source="OMIM:619325"} xref: OMIM:619325 {source="MONDO:equivalentTo"} is_a: MONDO:0015452 {source="OMIM:619325"} ! Coffin-Siris syndrome @@ -420535,7 +438931,9 @@ is_a: MONDO:0019046 {source="OMIM:619328"} ! leukodystrophy [Term] id: MONDO:0025708 name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +subset: gard_rare {source="GARD:16447"} synonym: "MMIHS2" EXACT ABBREVIATION [OMIM:619351] +xref: GARD:16447 {source="OMIM:619351"} xref: OMIM:619351 {source="MONDO:equivalentTo"} is_a: MONDO:0025986 {source="OMIM:619351"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome @@ -420557,7 +438955,6 @@ is_a: MONDO:0019623 {source="OMIM:619366"} ! hereditary angioedema id: MONDO:0025956 name: ovarian remnant syndrome def: "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." [GARD:0007297] -subset: gard_rare xref: UMLS:C0271614 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0007297"} is_a: MONDO:0005558 ! ovarian disorder @@ -420573,13 +438970,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249210"} ! inheri id: MONDO:0026045 name: prurigo nodularis def: "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." [GARD:0007480] -subset: gard_rare xref: UMLS:C0263353 {source="GARD:0007480", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005093 ! skin disorder [Term] id: MONDO:0026141 name: obsolete genetic urticaria +subset: gard_rare {source="GARD:20258"} +xref: GARD:20258 {source="MONDO:obsoleteEquivalent", source="Orphanet:182734"} xref: Orphanet:182734 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420589,6 +438987,8 @@ consider: MONDO:0005492 [Term] id: MONDO:0026150 name: obsolete genetic erythrokeratoderma +subset: gard_rare {source="GARD:20262"} +xref: GARD:20262 {source="MONDO:obsoleteEquivalent", source="Orphanet:183438"} xref: Orphanet:183438 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420598,6 +438998,8 @@ consider: MONDO:0019270 [Term] id: MONDO:0026151 name: obsolete genetic acrokeratoderma +subset: gard_rare {source="GARD:20263"} +xref: GARD:20263 {source="MONDO:obsoleteEquivalent", source="Orphanet:183441"} xref: Orphanet:183441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420606,6 +439008,8 @@ is_obsolete: true [Term] id: MONDO:0026152 name: obsolete genetic porokeratosis +subset: gard_rare {source="GARD:20264"} +xref: GARD:20264 {source="MONDO:obsoleteEquivalent", source="Orphanet:183444"} xref: Orphanet:183444 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420614,6 +439018,8 @@ is_obsolete: true [Term] id: MONDO:0026157 name: obsolete genetic pigmentation anomaly of the skin +subset: gard_rare {source="GARD:20269"} +xref: GARD:20269 {source="MONDO:obsoleteEquivalent", source="Orphanet:183463"} xref: Orphanet:183463 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420622,6 +439028,8 @@ is_obsolete: true [Term] id: MONDO:0026160 name: obsolete genetic dermis disorder +subset: gard_rare {source="GARD:20272"} +xref: GARD:20272 {source="MONDO:obsoleteEquivalent", source="Orphanet:183472"} xref: Orphanet:183472 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420631,6 +439039,8 @@ consider: MONDO:0021154 [Term] id: MONDO:0026166 name: obsolete genetic immune deficiency with skin involvement +subset: gard_rare {source="GARD:20278"} +xref: GARD:20278 {source="MONDO:obsoleteEquivalent", source="Orphanet:183494"} xref: Orphanet:183494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420640,6 +439050,8 @@ consider: MONDO:0009453 [Term] id: MONDO:0026167 name: obsolete genetic neuromuscular disease +subset: gard_rare {source="GARD:20279"} +xref: GARD:20279 {source="MONDO:obsoleteEquivalent", source="Orphanet:183497"} xref: Orphanet:183497 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420650,6 +439062,8 @@ consider: MONDO:0100167 [Term] id: MONDO:0026170 name: obsolete genetic central nervous system malformation +subset: gard_rare {source="GARD:20282"} +xref: GARD:20282 {source="Orphanet:183506", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183506 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420659,6 +439073,8 @@ consider: MONDO:0020022 [Term] id: MONDO:0026173 name: obsolete rare genetic medullar disease +subset: gard_rare {source="GARD:20285"} +xref: GARD:20285 {source="MONDO:obsoleteEquivalent", source="Orphanet:183515"} xref: Orphanet:183515 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420667,6 +439083,8 @@ is_obsolete: true [Term] id: MONDO:0026180 name: obsolete genetic congenital limb malformation +subset: gard_rare {source="GARD:20292"} +xref: GARD:20292 {source="MONDO:obsoleteEquivalent", source="Orphanet:183536"} xref: Orphanet:183536 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420675,6 +439093,8 @@ is_obsolete: true [Term] id: MONDO:0026181 name: obsolete genetic renal or urinary tract malformation +subset: gard_rare {source="GARD:20293"} +xref: GARD:20293 {source="Orphanet:183539", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420683,6 +439103,8 @@ is_obsolete: true [Term] id: MONDO:0026182 name: obsolete genetic cranial malformation +subset: gard_rare {source="GARD:20294"} +xref: GARD:20294 {source="MONDO:obsoleteEquivalent", source="Orphanet:183542"} xref: Orphanet:183542 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420691,6 +439113,8 @@ is_obsolete: true [Term] id: MONDO:0026183 name: obsolete genetic digestive tract malformation +subset: gard_rare {source="GARD:20295"} +xref: GARD:20295 {source="MONDO:obsoleteEquivalent", source="Orphanet:183545"} xref: Orphanet:183545 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420699,6 +439123,8 @@ is_obsolete: true [Term] id: MONDO:0026184 name: obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen +subset: gard_rare {source="GARD:20296"} +xref: GARD:20296 {source="MONDO:obsoleteEquivalent", source="Orphanet:183548"} xref: Orphanet:183548 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420707,6 +439133,8 @@ is_obsolete: true [Term] id: MONDO:0026185 name: obsolete genetic respiratory or mediastinal malformation +subset: gard_rare {source="GARD:20297"} +xref: GARD:20297 {source="MONDO:obsoleteEquivalent", source="Orphanet:183554"} xref: Orphanet:183554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420715,6 +439143,8 @@ is_obsolete: true [Term] id: MONDO:0026186 name: obsolete genetic developmental defect of the eye +subset: gard_rare {source="GARD:20298"} +xref: GARD:20298 {source="MONDO:obsoleteEquivalent", source="Orphanet:183557"} xref: Orphanet:183557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420723,6 +439153,8 @@ is_obsolete: true [Term] id: MONDO:0026187 name: obsolete genetic malformation syndrome with short stature +subset: gard_rare {source="GARD:20299"} +xref: GARD:20299 {source="MONDO:obsoleteEquivalent", source="Orphanet:183570"} xref: Orphanet:183570 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420731,6 +439163,8 @@ is_obsolete: true [Term] id: MONDO:0026188 name: obsolete genetic overgrowth/obesity syndrome +subset: gard_rare {source="GARD:20300"} +xref: GARD:20300 {source="MONDO:obsoleteEquivalent", source="Orphanet:183573"} xref: Orphanet:183573 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420739,6 +439173,8 @@ is_obsolete: true [Term] id: MONDO:0026189 name: obsolete genetic branchial arch or oral-acral syndrome +subset: gard_rare {source="GARD:20301"} +xref: GARD:20301 {source="MONDO:obsoleteEquivalent", source="Orphanet:183576"} xref: Orphanet:183576 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420747,6 +439183,8 @@ is_obsolete: true [Term] id: MONDO:0026190 name: obsolete genetic malformation syndrome with odontal and/or periodontal component +subset: gard_rare {source="GARD:20302"} +xref: GARD:20302 {source="Orphanet:183580", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183580 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420755,6 +439193,8 @@ is_obsolete: true [Term] id: MONDO:0026192 name: obsolete genetic glomerular disease +subset: gard_rare {source="GARD:20304"} +xref: GARD:20304 {source="MONDO:obsoleteEquivalent", source="Orphanet:183586"} xref: Orphanet:183586 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420763,6 +439203,8 @@ is_obsolete: true [Term] id: MONDO:0026193 name: obsolete genetic thrombotic microangiopathy +subset: gard_rare {source="GARD:20305"} +xref: GARD:20305 {source="MONDO:obsoleteEquivalent", source="Orphanet:183589"} xref: Orphanet:183589 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420771,6 +439213,8 @@ is_obsolete: true [Term] id: MONDO:0026203 name: obsolete genetic respiratory malformation +subset: gard_rare {source="GARD:20311"} +xref: GARD:20311 {source="MONDO:obsoleteEquivalent", source="Orphanet:183622"} xref: Orphanet:183622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420779,6 +439223,8 @@ is_obsolete: true [Term] id: MONDO:0026209 name: obsolete genetic polyendocrinopathy +subset: gard_rare {source="GARD:20317"} +xref: GARD:20317 {source="MONDO:obsoleteEquivalent", source="Orphanet:183643"} xref: Orphanet:183643 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -420802,6 +439248,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0026419 name: obsolete isolated corpus callosum agenesis def: "OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]" [Orphanet:200] +subset: gard_rare {source="GARD:18681"} +xref: GARD:18681 {source="MONDO:obsoleteEquivalent", source="Orphanet:200"} xref: ICD10CM:Q04.0 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -420823,10 +439271,12 @@ is_a: MONDO:0100209 {source="OMIM:300179"} ! X inactivation, familial skewed [Term] id: MONDO:0026720 name: mitochondrial complex 1 deficiency, nuclear type 12 +subset: gard_rare {source="GARD:15283"} synonym: "MC1DN12" RELATED ABBREVIATION [OMIM:301020] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12" RELATED [OMIM:301020] synonym: "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive" EXACT [OMIM:301020, OMIM:genemap2] xref: DOID:0112099 {source="MONDO:equivalentTo"} +xref: GARD:15283 {source="OMIM:301020"} xref: OMIM:301020 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:301020"} xref: UMLS:C4746984 {source="OMIM:301020"} @@ -420839,9 +439289,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0026721 name: mitochondrial complex 1 deficiency, nuclear type 30 +subset: gard_rare {source="GARD:15284"} synonym: "MC1DN30" RELATED ABBREVIATION [OMIM:301021] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30" RELATED [OMIM:301021] xref: DOID:0112098 {source="MONDO:equivalentTo"} +xref: GARD:15284 {source="OMIM:301021"} xref: OMIM:301021 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:301021"} xref: UMLS:C4746985 {source="OMIM:301021"} @@ -420894,9 +439346,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0026726 name: nephrotic syndrome, type 20 +subset: gard_rare {source="GARD:15285"} synonym: "NEPHROTIC SYNDROME, TYPE 20" RELATED [OMIM:301028] synonym: "NPHS20" RELATED ABBREVIATION [OMIM:301028] xref: DOID:0070357 {source="MONDO:equivalentTo"} +xref: GARD:15285 {source="OMIM:301028"} xref: OMIM:301028 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:301028"} xref: UMLS:C5193011 {source="OMIM:301028"} @@ -420906,10 +439360,12 @@ is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome [Term] id: MONDO:0026727 name: Shukla-Vernon syndrome +subset: gard_rare {source="GARD:18511"} synonym: "SHUKLA-VERNON SYNDROME" RELATED [OMIM:301029] synonym: "Shukla-Vernon syndrome, X-linked recessive" EXACT [OMIM:301029, OMIM:genemap2] synonym: "SHUVER" RELATED ABBREVIATION [OMIM:301029] xref: DOID:0111841 {source="MONDO:equivalentTo"} +xref: GARD:18511 {source="OMIM:301029"} xref: OMIM:301029 {source="MONDO:equivalentTo"} xref: UMLS:C5193146 {source="OMIM:301029"} is_a: MONDO:0003847 {source="OMIM:301029"} ! hereditary disease @@ -421073,11 +439529,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0026777 name: VEXAS syndrome def: "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." [OMIM:301054] +subset: gard_rare {source="GARD:15001"} subset: ordo_disease synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" EXACT [OMIM:301054] synonym: "VEXAS" EXACT ABBREVIATION [OMIM:301054] synonym: "VEXAS syndrome, somatic" EXACT [OMIM:301054, OMIM:genemap2] xref: DOID:0080828 {source="MONDO:equivalentTo"} +xref: GARD:15001 {source="Orphanet:596753"} xref: NCIT:C181924 {source="MONDO:equivalentTo"} xref: OMIM:301054 {source="MONDO:equivalentTo"} xref: Orphanet:596753 {source="MONDO:equivalentTo"} @@ -421108,6 +439566,8 @@ is_obsolete: true [Term] id: MONDO:0026989 name: obsolete syndrome associated with hypertrophic cardiomyopathy +subset: gard_rare {source="GARD:20523"} +xref: GARD:20523 {source="MONDO:obsoleteEquivalent", source="Orphanet:217595"} xref: Orphanet:217595 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -421117,7 +439577,6 @@ is_obsolete: true id: MONDO:0027026 name: Buschke Lowenstein tumor def: "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157782/] -subset: gard_rare synonym: "anogenital type verrucous carcinoma" RELATED [MESH:D062688] synonym: "Buschke Lowenstein tumor" EXACT [MESH:D062688] synonym: "Buschke-Lowenstein tumor" RELATED [MESH:D062688] @@ -421145,7 +439604,6 @@ is_a: MONDO:0006006 {source="MESH:D062688"} ! verrucous carcinoma id: MONDO:0027029 name: HHV-6 encephalitis def: "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." [GARD:0009667] -subset: gard_rare synonym: "Human Herpesvirus 6 encephalitis" RELATED [GARD:0009667] synonym: "Variant A or HHV-6A" RELATED [GARD:0009667] synonym: "Variant B or HHV-6B" RELATED [GARD:0009667] @@ -421194,7 +439652,6 @@ is_a: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex def [Term] id: MONDO:0027091 name: xanthogranulomatous sialadenitis -subset: gard_rare synonym: "sialadenitis, xanthogranulomatous" EXACT [GARD:0009739] synonym: "xanthogranulomatous salivary gland disease" RELATED [] xref: MESH:C536763 {source="MONDO:equivalentTo"} @@ -421238,7 +439695,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0027416 name: obsolete retinal cone dystrophy 2 -subset: gard_rare synonym: "Cone dystrophy progressive" RELATED [GARD:0010117] synonym: "Progressive cone degeneration" RELATED [GARD:0010117] synonym: "RCD2" RELATED ABBREVIATION [GARD:0010117] @@ -421381,9 +439837,11 @@ is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning [Term] id: MONDO:0027694 name: amyotrophic lateral sclerosis type 23 +subset: gard_rare {source="GARD:16262"} synonym: "ALS23" EXACT ABBREVIATION [OMIM:617839] synonym: "amyotrophic lateral sclerosis 23" RELATED [OMIM:617839] xref: DOID:0080225 {source="MONDO:equivalentTo"} +xref: GARD:16262 {source="OMIM:617839"} xref: OMIM:617839 {source="MONDO:equivalentTo", source="DOID:0080225"} xref: UMLS:CN778765 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="DOID:0080225", source="OMIM:617839"} ! familial amyotrophic lateral sclerosis @@ -421399,7 +439857,9 @@ is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning id: MONDO:0027749 name: serpinopathy subset: disease_grouping +subset: gard_rare {source="GARD:20683"} subset: ordo_group_of_disorders +xref: GARD:20683 {source="Orphanet:250805"} xref: Orphanet:250805 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="Orphanet:250805", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease intersection_of: MONDO:0003847 ! hereditary disease @@ -421409,6 +439869,8 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0027750 name: obsolete serpinopathy with toxic serpin polymerization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy +subset: gard_rare {source="GARD:20684"} +xref: GARD:20684 {source="MONDO:obsoleteEquivalent", source="Orphanet:250808"} xref: Orphanet:250808 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -421419,6 +439881,8 @@ consider: MONDO:0027749 id: MONDO:0027751 name: obsolete serpinopathy with loss of serpin function comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy +subset: gard_rare {source="GARD:20685"} +xref: GARD:20685 {source="MONDO:obsoleteEquivalent", source="Orphanet:250811"} xref: Orphanet:250811 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -421470,6 +439934,8 @@ intersection_of: disease_has_location UBERON:0002048 ! lung [Term] id: MONDO:0027929 name: obsolete genetic polycythemia +subset: gard_rare {source="GARD:20682"} +xref: GARD:20682 {source="MONDO:obsoleteEquivalent", source="Orphanet:250165"} xref: Orphanet:250165 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -421479,7 +439945,9 @@ is_obsolete: true id: MONDO:0028226 name: autosomal recessive severe congenital neutropenia subset: disease_grouping +subset: gard_rare {source="GARD:21834"} subset: ordo_group_of_disorders +xref: GARD:21834 {source="Orphanet:439849"} xref: NCIT:C176624 {source="MONDO:equivalentTo"} xref: Orphanet:439849 {source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="Orphanet:439849"} ! severe congenital neutropenia @@ -421489,6 +439957,8 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance [Term] id: MONDO:0028569 name: obsolete genetic interstitial lung disease +subset: gard_rare {source="GARD:20944"} +xref: GARD:20944 {source="MONDO:obsoleteEquivalent", source="Orphanet:264992"} xref: Orphanet:264992 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -421497,6 +439967,8 @@ is_obsolete: true [Term] id: MONDO:0028618 name: obsolete gastroenteric neuroendocrine neoplasm +subset: gard_rare {source="GARD:21985"} +xref: GARD:21985 {source="Orphanet:481508", source="MONDO:obsoleteEquivalent"} xref: Orphanet:481508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -421508,6 +439980,8 @@ is_obsolete: true [Term] id: MONDO:0028737 name: obsolete biliary atresia disorder +subset: gard_rare {source="GARD:22018"} +xref: GARD:22018 {source="Orphanet:498345", source="MONDO:obsoleteEquivalent"} xref: HP:0005912 xref: Orphanet:498345 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged @@ -421542,6 +440016,8 @@ replaced_by: MONDO:0800094 [Term] id: MONDO:0028795 name: obsolete rare genetic systemic or rheumatologic disease +subset: gard_rare {source="GARD:21018"} +xref: GARD:21018 {source="MONDO:obsoleteEquivalent", source="Orphanet:271870"} xref: Orphanet:271870 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -421550,6 +440026,8 @@ is_obsolete: true [Term] id: MONDO:0028868 name: obsolete genetic frontotemporal degeneration with dementia +subset: gard_rare {source="GARD:21040"} +xref: GARD:21040 {source="MONDO:obsoleteEquivalent", source="Orphanet:276061"} xref: Orphanet:276061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -421591,6 +440069,8 @@ consider: MONDO:0029000 [Term] id: MONDO:0029014 name: obsolete rare systemic or rheumatological disease of childhood +subset: gard_rare {source="GARD:21079"} +xref: GARD:21079 {source="MONDO:obsoleteEquivalent", source="Orphanet:280342"} xref: Orphanet:280342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPopulation"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421608,6 +440088,8 @@ replaced_by: HP:0000074 id: MONDO:0029051 name: obsolete autosomal recessive nail dysplasia def: "OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]" [Orphanet:280654] +subset: gard_rare {source="GARD:18650"} +xref: GARD:18650 {source="MONDO:obsoleteEquivalent", source="Orphanet:280654"} xref: ICD10CM:Q84.6 {source="MONDO:mondoIsNarrowerThanSource"} xref: OMIM:614157 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:280654 {source="MONDO:obsoleteEquivalent"} @@ -421619,6 +440101,8 @@ consider: HP:0002164 [Term] id: MONDO:0029102 name: obsolete autosomal ichthyosis syndrome with other associated signs +subset: gard_rare {source="GARD:21114"} +xref: GARD:21114 {source="MONDO:obsoleteEquivalent", source="Orphanet:281244"} xref: Orphanet:281244 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421628,8 +440112,10 @@ consider: MONDO:0017270 [Term] id: MONDO:0029130 name: polydactyly, postaxial, type A8 +subset: gard_rare {source="GARD:16293"} synonym: "PAPA8" RELATED ABBREVIATION [OMIM:618123] synonym: "polydactyly, postaxial, type A8" EXACT [OMIM:618123] +xref: GARD:16293 {source="OMIM:618123"} xref: OMIM:618123 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 ! postaxial polydactyly type A @@ -421663,10 +440149,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0029134 name: severe combined immunodeficiency due to CARMIL2 deficiency +subset: gard_rare {source="GARD:17981"} subset: ordo_disease synonym: "IMD58" RELATED ABBREVIATION [OMIM:618131] synonym: "immunodeficiency 58" EXACT [OMIM:618131] xref: DOID:0111984 {source="MONDO:equivalentTo"} +xref: GARD:17981 {source="Orphanet:542301"} xref: OMIM:618131 {source="Orphanet:542301", source="MONDO:equivalentTo"} xref: Orphanet:542301 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:618131"} ! immunodeficiency disease @@ -421680,6 +440168,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0029135 name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 +subset: gard_rare {source="GARD:16294"} synonym: "LGMD-POMGNT2 related myopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/50061/] synonym: "MDDGC8" RELATED ABBREVIATION [OMIM:618135] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [OMIM:618135] @@ -421687,6 +440176,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" RELATED [OMIM:618135] synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [OMIM:618135] xref: DOID:0112382 {source="MONDO:equivalentTo"} +xref: GARD:16294 {source="OMIM:618135"} xref: OMIM:618135 {source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="OMIM:618135"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="OMIM:618135"} ! autosomal recessive limb-girdle muscular dystrophy @@ -421696,10 +440186,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0029136 name: muscular dystrophy, limb-girdle, autosomal recessive 23 +subset: gard_rare {source="GARD:22270"} subset: ordo_disease {source="Orphanet:565837"} synonym: "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" EXACT [Orphanet:565837] synonym: "LGMDR23" RELATED ABBREVIATION [OMIM:618138] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 23" EXACT [OMIM:618138] +xref: GARD:22270 {source="Orphanet:565837"} xref: OMIM:618138 {source="MONDO:equivalentTo"} xref: Orphanet:565837 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="OMIM:618138"} ! autosomal recessive limb-girdle muscular dystrophy @@ -421711,9 +440203,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0029137 name: hearing loss, autosomal dominant 74 +subset: gard_rare {source="GARD:18151"} synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140, OMIM:genemap2] synonym: "DFNA74" NARROW ABBREVIATION [OMIM:618140] xref: DOID:0112165 {source="MONDO:equivalentTo"} +xref: GARD:18151 {source="OMIM:618140"} xref: OMIM:618140 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421722,11 +440216,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0029138 name: developmental and epileptic encephalopathy, 67 +subset: gard_rare {source="GARD:16295"} synonym: "DEE67" EXACT ABBREVIATION [OMIM:618141] synonym: "developmental and epileptic encephalopathy 67" EXACT [OMIM:618141, OMIM:genemap2] synonym: "EIEE67" EXACT ABBREVIATION [OMIM:618141] synonym: "epileptic encephalopathy, early infantile, 67" EXACT [OMIM:618141] xref: DOID:0112203 {source="MONDO:equivalentTo"} +xref: GARD:16295 {source="OMIM:618141"} xref: OMIM:618141 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618141"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421754,9 +440250,11 @@ is_a: MONDO:0019501 {source="OMIM:618144"} ! Usher syndrome [Term] id: MONDO:0029142 name: hearing loss, autosomal recessive 111 +subset: gard_rare {source="GARD:22659"} synonym: "deafness, autosomal recessive 111" NARROW [OMIM:618145, OMIM:genemap2] synonym: "DFNB111" NARROW ABBREVIATION [OMIM:618145] xref: DOID:0111640 {source="MONDO:equivalentTo"} +xref: GARD:22659 {source="OMIM:618145"} xref: OMIM:618145 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:618145"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421788,10 +440286,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0029145 name: orofacial cleft 8 +subset: gard_rare {source="GARD:18308"} synonym: "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8" RELATED [OMIM:618149] synonym: "OFC8" RELATED ABBREVIATION [OMIM:618149] synonym: "OROFACIAL CLEFT 8" RELATED [OMIM:618149] xref: DOID:0080401 {source="MONDO:equivalentTo"} +xref: GARD:18308 {source="OMIM:618149"} xref: OMIM:618149 {source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="https://orcid.org/0000-0001-5208-3432"} ! orofacial cleft @@ -421804,18 +440304,22 @@ replaced_by: MONDO:0019407 [Term] id: MONDO:0029147 name: spermatogenic failure 33 +subset: gard_rare {source="GARD:18406"} synonym: "SPERMATOGENIC FAILURE 33" RELATED [OMIM:618152] synonym: "SPGF33" RELATED ABBREVIATION [OMIM:618152] xref: DOID:0111915 {source="MONDO:equivalentTo"} +xref: GARD:18406 {source="OMIM:618152"} xref: OMIM:618152 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0029148 name: spermatogenic failure 34 +subset: gard_rare {source="GARD:18407"} synonym: "SPERMATOGENIC FAILURE 34" RELATED [OMIM:618153] synonym: "SPGF34" RELATED ABBREVIATION [OMIM:618153] xref: DOID:0111911 {source="MONDO:equivalentTo"} +xref: GARD:18407 {source="OMIM:618153"} xref: OMIM:618153 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure @@ -421831,6 +440335,8 @@ is_a: MONDO:0100172 {source="OMIM:617863"} ! intellectual disability, autosomal [Term] id: MONDO:0029810 name: obsolete laminopathy with striated muscle involvement +subset: gard_rare {source="GARD:21240"} +xref: GARD:21240 {source="MONDO:obsoleteEquivalent", source="Orphanet:300755"} xref: Orphanet:300755 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421840,6 +440346,8 @@ consider: MONDO:0021106 [Term] id: MONDO:0029811 name: obsolete laminopathy with peripheral neuropathy +subset: gard_rare {source="GARD:21241"} +xref: GARD:21241 {source="MONDO:obsoleteEquivalent", source="Orphanet:300758"} xref: Orphanet:300758 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421849,6 +440357,8 @@ consider: MONDO:0021106 [Term] id: MONDO:0029812 name: obsolete laminopathy with lipodystrophy +subset: gard_rare {source="GARD:21242"} +xref: GARD:21242 {source="Orphanet:300763", source="MONDO:obsoleteEquivalent"} xref: Orphanet:300763 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421858,6 +440368,8 @@ consider: MONDO:0021106 [Term] id: MONDO:0029813 name: obsolete laminopathy with premature aging +subset: gard_rare {source="GARD:21243"} +xref: GARD:21243 {source="MONDO:obsoleteEquivalent", source="Orphanet:300766"} xref: Orphanet:300766 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -421888,10 +440400,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030006 name: combined oxidative phosphorylation deficiency 40 +subset: gard_rare {source="GARD:18006"} synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" EXACT [OMIM:618835] synonym: "combined oxidative phosphorylation deficiency 40" EXACT [OMIM:618835] synonym: "COXPD40" EXACT ABBREVIATION [OMIM:618835] xref: DOID:0112117 {source="MONDO:equivalentTo"} +xref: GARD:18006 {source="Orphanet:570491"} xref: OMIM:618835 {source="MONDO:equivalentTo"} xref: Orphanet:570491 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618835"} ! combined oxidative phosphorylation deficiency @@ -421919,20 +440433,24 @@ is_a: MONDO:0000732 {source="OMIM:618839"} ! combined oxidative phosphorylation [Term] id: MONDO:0030009 name: alopecia-intellectual disability syndrome 4 +subset: gard_rare {source="GARD:16386"} synonym: "alopecia-intellectual disability syndrome 4" EXACT [OMIM:618840] synonym: "ALOPECIA-MENTAL RETARDATION SYNDROME 4" EXACT [OMIM:618840] synonym: "alopecia-mental retardation syndrome 4" EXACT DEPRECATED [OMIM:618840] synonym: "APMR4" EXACT ABBREVIATION [OMIM:618840] xref: DOID:0080950 {source="MONDO:equivalentTo"} +xref: GARD:16386 {source="OMIM:618840"} xref: OMIM:618840 {source="MONDO:equivalentTo"} is_a: MONDO:0008756 {source="OMIM:618840"} ! alopecia - intellectual disability syndrome [Term] id: MONDO:0030010 name: hypogonadotropic hypogonadism 25 with anosmia +subset: gard_rare {source="GARD:16387"} synonym: "HH25" EXACT ABBREVIATION [OMIM:618841] synonym: "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA" EXACT [OMIM:618841] synonym: "hypogonadotropic hypogonadism 25 with anosmia" EXACT [OMIM:618841] +xref: GARD:16387 {source="OMIM:618841"} xref: OMIM:618841 {source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="OMIM:618841"} ! hypogonadotropic hypogonadism @@ -422207,11 +440725,13 @@ is_a: MONDO:0009626 {source="OMIM:618886"} ! pseudo-TORCH syndrome id: MONDO:0030045 name: Liberfarb syndrome def: "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." [OMIM:618889, PMID:31263216] +subset: gard_rare {source="GARD:22350"} subset: ordo_disorder synonym: "Liberfarb syndrome" EXACT [OMIM:618889, Orphanet:589442] synonym: "LIBF" EXACT ABBREVIATION [OMIM:618889] synonym: "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" EXACT [MONDO:0035635] synonym: "spondyloepimetaphyseal dysplasia, Liberfarb Type" EXACT [OMIM:618889] +xref: GARD:22350 {source="Orphanet:589442"} xref: OMIM:618889 {source="MONDO:equivalentTo"} xref: Orphanet:589442 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -422264,9 +440784,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030051 name: intellectual developmental disorder with autistic features and language delay, with or without seizures +subset: gard_rare {source="GARD:18522"} synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618906] synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906] +xref: GARD:18522 {source="OMIM:618906"} xref: OMIM:618906 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -422280,12 +440802,14 @@ is_obsolete: true [Term] id: MONDO:0030054 name: developmental and epileptic encephalopathy, 86 +subset: gard_rare {source="GARD:16391"} synonym: "DEE86" EXACT ABBREVIATION [OMIM:618910] synonym: "developmental and epileptic encephalopathy 86" EXACT [OMIM:618910, OMIM:genemap2] synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86" EXACT [OMIM:618910] synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910] xref: DOID:0112220 {source="MONDO:equivalentTo"} +xref: GARD:16391 {source="OMIM:618910"} xref: OMIM:618910 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422303,29 +440827,35 @@ is_a: MONDO:0015363 {source="OMIM:618912"} ! neuronopathy, distal hereditary mot [Term] id: MONDO:0030056 name: Fanconi renotubular syndrome 5 +subset: gard_rare {source="GARD:16392"} synonym: "FANCONI RENOTUBULAR SYNDROME 5" EXACT [OMIM:618913] synonym: "Fanconi renotubular syndrome 5" EXACT [OMIM:618913] synonym: "Fanconi Renotubular Syndrome, Acadian Variant" EXACT [OMIM:618913] synonym: "FRTS5" EXACT ABBREVIATION [OMIM:618913] xref: DOID:0080761 {source="MONDO:equivalentTo"} +xref: GARD:16392 {source="OMIM:618913"} xref: OMIM:618913 {source="MONDO:equivalentTo"} is_a: MONDO:0100238 {source="OMIM:618913"} ! inherited Fanconi renotubular syndrome [Term] id: MONDO:0030057 name: neurodevelopmental, jaw, eye, and digital syndrome +subset: gard_rare {source="GARD:18523"} synonym: "NEDJED" EXACT ABBREVIATION [OMIM:618914] synonym: "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" EXACT [OMIM:618914] synonym: "neurodevelopmental, jaw, eye, and digital syndrome" EXACT [OMIM:618914] +xref: GARD:18523 {source="OMIM:618914"} xref: OMIM:618914 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030058 name: hearing loss, autosomal dominant 77 +subset: gard_rare {source="GARD:18155"} synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915, OMIM:genemap2] synonym: "DFNA77" NARROW ABBREVIATION [OMIM:618915] xref: DOID:0112168 {source="MONDO:equivalentTo"} +xref: GARD:18155 {source="OMIM:618915"} xref: OMIM:618915 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422334,12 +440864,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030059 name: developmental and epileptic encephalopathy, 87 +subset: gard_rare {source="GARD:16393"} synonym: "DEE87" EXACT ABBREVIATION [OMIM:618916] synonym: "developmental and epileptic encephalopathy 87" EXACT [OMIM:618916, OMIM:genemap2] synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87" EXACT [OMIM:618916] synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916] xref: DOID:0112221 {source="MONDO:equivalentTo"} +xref: GARD:16393 {source="OMIM:618916"} xref: OMIM:618916 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422358,9 +440890,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030061 name: periventricular nodular heterotopia 9 +subset: gard_rare {source="GARD:16394"} synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 9" EXACT [OMIM:618918] synonym: "periventricular nodular heterotopia 9" EXACT [OMIM:618918] synonym: "PVNH9" EXACT ABBREVIATION [OMIM:618918] +xref: GARD:16394 {source="OMIM:618918"} xref: OMIM:618918 {source="MONDO:equivalentTo"} is_a: MONDO:0020341 {source="OMIM:618918"} ! periventricular nodular heterotopia @@ -422380,10 +440914,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0030063 name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +subset: gard_rare {source="GARD:18524"} synonym: "NEDSHBA" EXACT ABBREVIATION [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" EXACT [OMIM:618922, OMIM:genemap2] synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" EXACT [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922] +xref: GARD:18524 {source="OMIM:618922"} xref: OMIM:618922 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -422412,12 +440948,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030066 name: granulomatous disease, chronic, autosomal recessive, 5 +subset: gard_rare {source="GARD:16395"} synonym: "CGD5" EXACT ABBREVIATION [OMIM:618935] synonym: "chronic granulomatous disease 5, autosomal recessive" EXACT [OMIM:618935, OMIM:genemap2] synonym: "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5" EXACT [OMIM:618935] synonym: "granulomatous disease, chronic, autosomal recessive, 5" EXACT [OMIM:618935] synonym: "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" EXACT [OMIM:618935] xref: DOID:0070368 {source="MONDO:equivalentTo"} +xref: GARD:16395 {source="OMIM:618935"} xref: OMIM:618935 {source="MONDO:equivalentTo"} is_a: MONDO:0018305 {source="OMIM:618935"} ! chronic granulomatous disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422425,11 +440963,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030067 name: Treacher Collins syndrome 4 +subset: gard_rare {source="GARD:16396"} synonym: "TCS4" EXACT ABBREVIATION [OMIM:618939] synonym: "TREACHER COLLINS SYNDROME 4" EXACT [OMIM:618939] synonym: "treacher collins syndrome 4" EXACT [OMIM:618939] synonym: "Treacher-Collins syndrome 4" EXACT [OMIM:618939, OMIM:genemap2] xref: DOID:0080792 {source="MONDO:equivalentTo"} +xref: GARD:16396 {source="OMIM:618939"} xref: OMIM:618939 {source="MONDO:equivalentTo"} is_a: MONDO:0002457 {source="OMIM:618939"} ! Treacher-Collins syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422465,12 +441005,14 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030072 name: developmental and epileptic encephalopathy, 88 +subset: gard_rare {source="GARD:16398"} synonym: "DEE88" EXACT ABBREVIATION [OMIM:618959] synonym: "developmental and epileptic encephalopathy 88" EXACT [OMIM:618959, OMIM:genemap2] synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88" EXACT [OMIM:618959] synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959] xref: DOID:0112222 {source="MONDO:equivalentTo"} +xref: GARD:16398 {source="OMIM:618959"} xref: OMIM:618959 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422491,10 +441033,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030074 name: spondylometaphyseal dysplasia with corneal dystrophy +subset: gard_rare {source="GARD:18016"} synonym: "SMDCD" EXACT ABBREVIATION [OMIM:618961] synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" EXACT [OMIM:618961] synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:618961] xref: DOID:0112303 {source="MONDO:equivalentTo"} +xref: GARD:18016 {source="Orphanet:589435"} xref: OMIM:618961 {source="MONDO:equivalentTo"} xref: Orphanet:589435 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -422502,21 +441046,25 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030077 name: vertebral, cardiac, renal, and limb defects syndrome 3 +subset: gard_rare {source="GARD:18510"} synonym: "Congenital Nad Deficiency Disorder 3" EXACT [OMIM:618845] synonym: "VCRL3" EXACT ABBREVIATION [OMIM:618845] synonym: "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3" EXACT [OMIM:618845] synonym: "vertebral, cardiac, renal, and limb defects syndrome 3" EXACT [OMIM:618845] +xref: GARD:18510 {source="OMIM:618845"} xref: OMIM:618845 {source="MONDO:equivalentTo"} is_a: MONDO:0020831 {source="OMIM:618845"} ! congenital vertebral-cardiac-renal anomalies syndrome [Term] id: MONDO:0030087 name: diabetes mellitus, permanent neonatal 2 +subset: gard_rare {source="GARD:16388"} synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [OMIM:618856] synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2" EXACT [OMIM:618856] synonym: "diabetes mellitus, permanent neonatal 2" EXACT [OMIM:618856] synonym: "diabetes, permanent neonatal 2, with or without neurologic features" EXACT [OMIM:618856, OMIM:genemap2] synonym: "PNDM2" EXACT ABBREVIATION [OMIM:618856] +xref: GARD:16388 {source="OMIM:618856"} xref: OMIM:618856 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618856"} ! permanent neonatal diabetes mellitus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422524,11 +441072,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030088 name: diabetes mellitus, permanent neonatal 3 +subset: gard_rare {source="GARD:16389"} synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [OMIM:618857] synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3" EXACT [OMIM:618857] synonym: "diabetes mellitus, permanent neonatal 3" EXACT [OMIM:618857] synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [OMIM:618857, OMIM:genemap2] synonym: "PNDM3" EXACT ABBREVIATION [OMIM:618857] +xref: GARD:16389 {source="OMIM:618857"} xref: OMIM:618857 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618857"} ! permanent neonatal diabetes mellitus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422536,20 +441086,24 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030089 name: diabetes mellitus, permanent neonatal 4 +subset: gard_rare {source="GARD:16390"} synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4" EXACT [OMIM:618858] synonym: "diabetes mellitus, permanent neonatal 4" EXACT [OMIM:618858] synonym: "PNDM4" EXACT ABBREVIATION [OMIM:618858] +xref: GARD:16390 {source="OMIM:618858"} xref: OMIM:618858 {source="MONDO:equivalentTo"} is_a: MONDO:0100164 {source="OMIM:618858"} ! permanent neonatal diabetes mellitus [Term] id: MONDO:0030105 name: galactosemia 4 +subset: gard_rare {source="GARD:18005"} synonym: "GALAC4" EXACT ABBREVIATION [OMIM:618881] synonym: "Galactose Mutarotase Deficiency" EXACT [OMIM:618881] synonym: "GALACTOSEMIA IV" EXACT [OMIM:618881] synonym: "galactosemia iv" EXACT [OMIM:618881] synonym: "GALM mutarotase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] +xref: GARD:18005 {source="Orphanet:570422"} xref: OMIM:618881 {source="MONDO:equivalentTo"} xref: Orphanet:570422 {source="MONDO:equivalentTo"} is_a: MONDO:0018116 {source="OMIM:618881"} ! galactosemia @@ -422570,29 +441124,36 @@ is_a: MONDO:0008394 {source="OMIM:618905"} ! Silver-Russell syndrome [Term] id: MONDO:0030118 name: silver-russell syndrome 4 +subset: gard_rare {source="GARD:18464"} synonym: "SILVER-RUSSELL SYNDROME 4" EXACT [OMIM:618907] synonym: "silver-russell syndrome 4" EXACT [OMIM:618907] synonym: "SRS4" EXACT ABBREVIATION [OMIM:618907] +xref: GARD:18464 {source="OMIM:618907"} xref: OMIM:618907 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="OMIM:618907"} ! Silver-Russell syndrome [Term] id: MONDO:0030134 name: oculopharyngodistal myopathy 2 +subset: gard_rare {source="GARD:16397"} synonym: "OCULOPHARYNGODISTAL MYOPATHY 2" EXACT [OMIM:618940] synonym: "oculopharyngodistal myopathy 2" EXACT [OMIM:618940] synonym: "OPDM2" EXACT ABBREVIATION [OMIM:618940] xref: DOID:0081298 {source="MONDO:equivalentTo"} +xref: GARD:16397 {source="OMIM:618940"} xref: OMIM:618940 {source="MONDO:equivalentTo"} is_a: MONDO:0025193 {source="OMIM:618940"} ! oculopharyngodistal myopathy [Term] id: MONDO:0030258 name: pontocerebellar hypoplasia, type 14 +subset: gard_rare {source="GARD:18032", source="GARD:18562"} subset: ordo_disorder synonym: "PCH14" EXACT ABBREVIATION [OMIM:619301, Orphanet:613274] synonym: "pontocerebellar hypoplasia, type 14" EXACT [OMIM:619301] xref: DOID:0112325 {source="MONDO:equivalentTo"} +xref: GARD:18032 {source="Orphanet:613274"} +xref: GARD:18562 {source="OMIM:619301"} xref: OMIM:619301 {source="MONDO:equivalentTo"} xref: Orphanet:613274 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:619301"} ! pontocerebellar hypoplasia @@ -422600,27 +441161,33 @@ is_a: MONDO:0020135 {source="OMIM:619301"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030259 name: pontocerebellar hypoplasia, type 15 +subset: gard_rare {source="GARD:18563"} synonym: "PCH15" EXACT ABBREVIATION [OMIM:619302] synonym: "pontocerebellar hypoplasia, type 15" EXACT [OMIM:619302] xref: DOID:0112326 {source="MONDO:equivalentTo"} +xref: GARD:18563 {source="OMIM:619302"} xref: OMIM:619302 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:619302"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030260 name: pontocerebellar hypoplasia, type 1E +subset: gard_rare {source="GARD:16441"} synonym: "PCH1E" EXACT ABBREVIATION [OMIM:619303] synonym: "pontocerebellar hypoplasia, type 1E" EXACT [OMIM:619303] xref: DOID:0112330 {source="MONDO:equivalentTo"} +xref: GARD:16441 {source="OMIM:619303"} xref: OMIM:619303 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:619303"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030261 name: pontocerebellar hypoplasia, type 1F +subset: gard_rare {source="GARD:16442"} synonym: "PCH1F" EXACT ABBREVIATION [OMIM:619304] synonym: "pontocerebellar hypoplasia, type 1F" EXACT [OMIM:619304] xref: DOID:0112331 {source="MONDO:equivalentTo"} +xref: GARD:16442 {source="OMIM:619304"} xref: OMIM:619304 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:619304"} ! pontocerebellar hypoplasia @@ -424208,6 +442775,8 @@ is_a: MONDO:0031280 {source="OMIM:619751"} ! Stuve-Wiedemann syndrome [Term] id: MONDO:0030767 name: obsolete genetic tumor of hematopoietic and lymphoid tissues +subset: gard_rare {source="GARD:21434"} +xref: GARD:21434 {source="MONDO:obsoleteEquivalent", source="Orphanet:322126"} xref: Orphanet:322126 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -424297,8 +442866,10 @@ is_a: MONDO:0015762 {source="OMIM:619849"} ! progressive familial intrahepatic c [Term] id: MONDO:0030801 name: monosomy 7 myelodysplasia and leukemia syndrome 2 +subset: gard_rare {source="GARD:18506"} synonym: "M7MLS2" EXACT ABBREVIATION [OMIM:619041] synonym: "monosomy 7 myelodysplasia and leukemia syndrome 2" EXACT [OMIM:619041] +xref: GARD:18506 {source="OMIM:619041"} xref: OMIM:619041 {source="MONDO:equivalentTo"} is_a: MONDO:0044645 {source="OMIM:619041"} ! familial monosomy 7 syndrome @@ -424395,9 +442966,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0030837 name: neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619092] +subset: gard_rare {source="GARD:18535"} synonym: "NEDMILEG" BROAD ABBREVIATION [OMIM:619092] synonym: "NEDMILEG, AD" EXACT ABBREVIATION [OMIM:619092] synonym: "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" EXACT [OMIM:619092, OMIM:genemap2] +xref: GARD:18535 {source="OMIM:619092"} xref: OMIM:619092 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:619092"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -424419,24 +442992,30 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0030840 name: mismatch repair cancer syndrome 2 +subset: gard_rare {source="GARD:18362"} synonym: "mismatch repair cancer syndrome 2" EXACT [OMIM:619096] synonym: "MMRCS2" EXACT ABBREVIATION [OMIM:619096] +xref: GARD:18362 {source="OMIM:619096"} xref: OMIM:619096 {source="MONDO:equivalentTo"} is_a: MONDO:0031219 {source="OMIM:619096"} ! mismatch repair cancer syndrome [Term] id: MONDO:0030841 name: mismatch repair cancer syndrome 3 +subset: gard_rare {source="GARD:18363"} synonym: "mismatch repair cancer syndrome 3" EXACT [OMIM:619097] synonym: "MMRCS3" EXACT ABBREVIATION [OMIM:619097] +xref: GARD:18363 {source="OMIM:619097"} xref: OMIM:619097 {source="MONDO:equivalentTo"} is_a: MONDO:0031219 {source="OMIM:619097"} ! mismatch repair cancer syndrome [Term] id: MONDO:0030843 name: mismatch repair cancer syndrome 4 +subset: gard_rare {source="GARD:18364"} synonym: "mismatch repair cancer syndrome 4" EXACT [OMIM:619101] synonym: "MMRCS4" EXACT ABBREVIATION [OMIM:619101] +xref: GARD:18364 {source="OMIM:619101"} xref: OMIM:619101 {source="MONDO:equivalentTo"} is_a: MONDO:0031219 {source="OMIM:619101"} ! mismatch repair cancer syndrome @@ -424452,25 +443031,31 @@ is_a: MONDO:0004983 {source="OMIM:619102"} ! spermatogenic failure [Term] id: MONDO:0030846 name: spermatogenic failure 48 +subset: gard_rare {source="GARD:16420"} synonym: "spermatogenic failure 48" EXACT [OMIM:619108] synonym: "SPGF48" EXACT ABBREVIATION [OMIM:619108] xref: DOID:0112176 {source="MONDO:equivalentTo"} +xref: GARD:16420 {source="OMIM:619108"} xref: OMIM:619108 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:619108"} ! spermatogenic failure [Term] id: MONDO:0030847 name: arthrogryposis, distal, type 1C +subset: gard_rare {source="GARD:16421"} synonym: "arthrogryposis, distal, type 1C" EXACT [OMIM:619110] synonym: "DA1C" EXACT ABBREVIATION [OMIM:619110] xref: DOID:0112190 {source="MONDO:equivalentTo"} +xref: GARD:16421 {source="OMIM:619110"} xref: OMIM:619110 {source="MONDO:equivalentTo"} is_a: MONDO:0019942 {source="OMIM:619110"} ! distal arthrogryposis [Term] id: MONDO:0030849 name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy +subset: gard_rare {source="GARD:18536"} synonym: "IDDSAPN" EXACT ABBREVIATION [OMIM:619099] +xref: GARD:18536 {source="OMIM:619099"} xref: OMIM:619099 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -424488,42 +443073,52 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030854 name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +subset: gard_rare {source="GARD:18316"} synonym: "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" EXACT [OMIM:619115] synonym: "OIEDS Syndrome 1" EXACT [OMIM:619115] synonym: "OIEDS1" EXACT ABBREVIATION [OMIM:619115] +xref: GARD:18316 {source="OMIM:619115"} xref: OMIM:619115 {source="MONDO:equivalentTo"} is_a: MONDO:0016470 {source="OMIM:619115"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome [Term] id: MONDO:0030855 name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +subset: gard_rare {source="GARD:18317"} synonym: "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" EXACT [OMIM:619120] synonym: "OIEDS Syndrome 2" EXACT [OMIM:619120] synonym: "OIEDS2" EXACT ABBREVIATION [OMIM:619120] +xref: GARD:18317 {source="OMIM:619120"} xref: OMIM:619120 {source="MONDO:equivalentTo"} is_a: MONDO:0016470 {source="OMIM:619120"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome [Term] id: MONDO:0030856 name: developmental and epileptic encephalopathy 89 +subset: gard_rare {source="GARD:16424"} synonym: "DEE89" EXACT ABBREVIATION [OMIM:619124] synonym: "developmental and epileptic encephalopathy 89" EXACT [OMIM:619124] xref: DOID:0112223 {source="MONDO:equivalentTo"} +xref: GARD:16424 {source="OMIM:619124"} xref: OMIM:619124 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:619124"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030858 name: immunodeficiency 75 +subset: gard_rare {source="GARD:18194"} synonym: "IMD75" EXACT ABBREVIATION [OMIM:619126] synonym: "immunodeficiency 75" EXACT [OMIM:619126] +xref: GARD:18194 {source="OMIM:619126"} xref: OMIM:619126 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:619126"} ! immunodeficiency disease [Term] id: MONDO:0030859 name: COACH syndrome 2 +subset: gard_rare {source="GARD:16422"} synonym: "COACH2" EXACT ABBREVIATION [OMIM:619111] +xref: GARD:16422 {source="OMIM:619111"} xref: OMIM:619111 {source="MONDO:equivalentTo"} is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome intersection_of: MONDO:0100349 ! COACH syndrome @@ -424533,10 +443128,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0030860 name: neuronopathy, distal hereditary motor, type 5C def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18268"} synonym: "DHMN5C" EXACT [OMIM:619112] synonym: "HMN5C" EXACT ABBREVIATION [OMIM:619112] synonym: "neuropathy, distal hereditary motor, type VC" EXACT [OMIM:619112] synonym: "spinal muscular atrophy, distal, type 5C" EXACT [OMIM:619112] +xref: GARD:18268 {source="OMIM:619112"} xref: OMIM:619112 {source="MONDO:equivalentTo"} is_a: MONDO:0100350 {source="OMIM:619112"} ! neuronopathy, distal hereditary motor, type 5 intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5 @@ -424556,7 +443153,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030862 name: COACH syndrome 3 +subset: gard_rare {source="GARD:16423"} synonym: "COACH3" EXACT ABBREVIATION [OMIM:619113] +xref: GARD:16423 {source="OMIM:619113"} xref: OMIM:619113 {source="MONDO:equivalentTo"} is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome intersection_of: MONDO:0100349 ! COACH syndrome @@ -424565,8 +443164,10 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0030864 name: Ritscher-Schinzel syndrome 3 +subset: gard_rare {source="GARD:16426"} synonym: "Ritscher-Schinzel syndrome 3" EXACT [OMIM:619135] synonym: "RTSC3" EXACT ABBREVIATION [OMIM:619135] +xref: GARD:16426 {source="OMIM:619135"} xref: OMIM:619135 {source="MONDO:equivalentTo"} is_a: MONDO:0019078 {source="OMIM:619135"} ! Ritscher-Schinzel syndrome @@ -424582,9 +443183,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030867 name: thrombocytopenia 7 +subset: gard_rare {source="GARD:18492"} synonym: "THC7" EXACT ABBREVIATION [OMIM:619130] synonym: "thrombocytopenia 7" EXACT [OMIM:619130] synonym: "Thrombocytopenia, Autosomal Dominant, 7" EXACT ABBREVIATION [OMIM:619130] +xref: GARD:18492 {source="OMIM:619130"} xref: OMIM:619130 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="OMIM:619130"} ! inherited thrombocytopenia @@ -424628,8 +443231,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030872 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +subset: gard_rare {source="GARD:18395"} synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" EXACT [OMIM:619132] synonym: "FTDALS8" EXACT ABBREVIATION [OMIM:619132] +xref: GARD:18395 {source="OMIM:619132"} xref: OMIM:619132 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:619132"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0030923 {source="OMIM:619132"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis @@ -424644,8 +443249,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030875 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5 +subset: gard_rare {source="GARD:16427"} synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" EXACT [OMIM:619141] synonym: "FTDALS5" EXACT ABBREVIATION [OMIM:619141] +xref: GARD:16427 {source="OMIM:619141"} xref: OMIM:619141 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:619141"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0030923 {source="OMIM:619141"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis @@ -424671,7 +443278,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030878 name: Kaya-Barakat-Masson syndrome +subset: gard_rare {source="GARD:18537"} synonym: "KABAMAS" EXACT ABBREVIATION [OMIM:619125] +xref: GARD:18537 {source="OMIM:619125"} xref: OMIM:619125 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -424703,7 +443312,9 @@ is_a: MONDO:0007275 {source="OMIM:619161"} ! carpal tunnel syndrome [Term] id: MONDO:0030885 name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia +subset: gard_rare {source="GARD:16425"} synonym: "ALS26" EXACT ABBREVIATION [OMIM:619133] +xref: GARD:16425 {source="OMIM:619133"} xref: OMIM:619133 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:619133"} ! familial amyotrophic lateral sclerosis @@ -424752,6 +443363,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030894 name: AMED syndrome, digenic +subset: gard_rare {source="GARD:18026"} subset: ordo_disorder synonym: "AMeD syndrome" EXACT [Orphanet:611216] synonym: "AMED syndrome, digenic" EXACT [OMIM:619151] @@ -424759,6 +443371,7 @@ synonym: "AMEDS" EXACT ABBREVIATION [OMIM:619151] synonym: "aplastic anemia-intellectual disability-dwarfism syndrome" EXACT [Orphanet:611216] synonym: "bone marrow failure syndrome 7, digenic" EXACT [OMIM:619151] xref: DOID:0080952 {source="MONDO:equivalentTo"} +xref: GARD:18026 {source="Orphanet:611216"} xref: OMIM:619151 {source="MONDO:equivalentTo"} xref: Orphanet:611216 {source="MONDO:equivalentTo"} is_a: MONDO:0000159 {source="OMIM:619151"} ! bone marrow failure syndrome @@ -424766,9 +443379,11 @@ is_a: MONDO:0000159 {source="OMIM:619151"} ! bone marrow failure syndrome [Term] id: MONDO:0030895 name: nephrotic syndrome, type 22 +subset: gard_rare {source="GARD:16428"} synonym: "nephrotic syndrome, type 22" EXACT [OMIM:619155] synonym: "NPHS22" EXACT ABBREVIATION [OMIM:619155] xref: DOID:0112268 {source="MONDO:equivalentTo"} +xref: GARD:16428 {source="OMIM:619155"} xref: OMIM:619155 {source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="OMIM:619155"} ! familial nephrotic syndrome @@ -424781,7 +443396,9 @@ is_a: MONDO:0016911 {source="OMIM:619148"} ! partial deletion of the long arm of [Term] id: MONDO:0030897 name: Lessel-Kreienkamp syndrome +subset: gard_rare {source="GARD:18538"} synonym: "LESKRES" EXACT ABBREVIATION [OMIM:619149] +xref: GARD:18538 {source="OMIM:619149"} xref: OMIM:619149 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -424801,9 +443418,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030899 name: oculocutaneous albinism type 8 +subset: gard_rare {source="GARD:18017"} synonym: "OCA8" EXACT ABBREVIATION [OMIM:619165] synonym: "oculocutaneous albinism, type 8" EXACT [OMIM:619165] synonym: "oculocutaneous albinism, type VIII" EXACT [OMIM:619165, OMIM:genemap2] +xref: GARD:18017 {source="Orphanet:597733"} xref: OMIM:619165 {source="MONDO:equivalentTo"} xref: Orphanet:597733 {source="MONDO:equivalentTo"} is_a: MONDO:0018910 {source="OMIM:619165"} ! oculocutaneous albinism @@ -424819,9 +443438,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030902 name: mitochondrial complex 1 deficiency, nuclear type 36 +subset: gard_rare {source="GARD:16431"} synonym: "MC1DN36" EXACT ABBREVIATION [OMIM:619170] synonym: "mitochondrial complex 1 deficiency, nuclear type 36" EXACT [OMIM:619170] synonym: "mitochondrial complex I deficiency, nuclear type 36" EXACT [OMIM:619170, OMIM:genemap2] +xref: GARD:16431 {source="OMIM:619170"} xref: OMIM:619170 {source="MONDO:equivalentTo"} is_a: MONDO:0100223 {source="OMIM:619170"} ! mitochondrial complex I deficiency, nuclear type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -424829,16 +443450,20 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030903 name: Hermansky-Pudlak syndrome 11 +subset: gard_rare {source="GARD:18339"} synonym: "Hermansky-Pudlak syndrome" BROAD [OMIM:619172] synonym: "HPS11" EXACT ABBREVIATION [OMIM:619172] +xref: GARD:18339 {source="OMIM:619172"} xref: OMIM:619172 {source="MONDO:equivalentTo"} is_a: MONDO:0019312 {source="OMIM:619172"} ! Hermansky-Pudlak syndrome [Term] id: MONDO:0030905 name: hearing loss, autosomal recessive 117 +subset: gard_rare {source="GARD:22665"} synonym: "deafness, autosomal recessive 117" NARROW [OMIM:619174, OMIM:genemap2] synonym: "DFNB117" NARROW ABBREVIATION [OMIM:619174] +xref: GARD:22665 {source="OMIM:619174"} xref: OMIM:619174 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:619174"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -424892,6 +443517,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030909 name: intellectual disability, X-linked, syndromic, Houge type +subset: gard_rare {source="GARD:15282"} synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [OMIM:301008, OMIM:genemap2] synonym: "intellectual disability, X-linked, syndromic, HOUGE type" RELATED [OMIM:301008] synonym: "intellectual disability, X-linked, syndromic, Houge type" EXACT CLINGEN_PREFERRED [OMIM:301008] @@ -424901,6 +443527,7 @@ synonym: "MRXSHG" RELATED DEPRECATED [OMIM:301008] synonym: "syndromic X-linked intellectual disability Hough type" RELATED [DOID:0080242] synonym: "syndromic X-linked mental retardation Hough type" RELATED DEPRECATED [DOID:0080242] xref: DOID:0080242 {source="MONDO:equivalentTo"} +xref: GARD:15282 {source="OMIM:301008"} xref: OMIM:301008 {source="DOID:0080242", source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:301008"} xref: UMLS:C4538788 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:301008"} @@ -424942,6 +443569,7 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030912 name: intellectual disability, autosomal dominant 47 +subset: gard_rare {source="GARD:17935"} subset: ordo_malformation_syndrome synonym: "autosomal dominant intellectual disability 47" RELATED [DOID:0080238] synonym: "autosomal dominant mental retardation 47" RELATED DEPRECATED [DOID:0080238] @@ -424950,6 +443578,7 @@ synonym: "mental retardation, autosomal dominant 47" RELATED DEPRECATED [OMIM:61 synonym: "MRD47" RELATED DEPRECATED [OMIM:617635] synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716] xref: DOID:0080238 {source="MONDO:equivalentTo"} +xref: GARD:17935 {source="Orphanet:502434"} xref: OMIM:617635 {source="Orphanet:502434", source="MONDO:equivalentTo", source="DOID:0080238"} xref: Orphanet:502434 {source="OMIM:617635", source="MONDO:equivalentTo"} xref: UMLS:C4539951 {source="OMIM:617635", source="MONDO:notFoundInDiseaseSubset"} @@ -424964,6 +443593,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030913 name: intellectual disability, autosomal dominant 48 +subset: gard_rare {source="GARD:17924"} subset: ordo_malformation_syndrome synonym: "autosomal dominant intellectual disability 48" RELATED [DOID:0080235] synonym: "autosomal dominant mental retardation 48" RELATED DEPRECATED [DOID:0080235] @@ -424973,6 +443603,7 @@ synonym: "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial d synonym: "MRD48" RELATED DEPRECATED [OMIM:617751] xref: DOID:0080235 {source="MONDO:equivalentTo"} xref: EFO:0009156 {source="MONDO:equivalentTo"} +xref: GARD:17924 {source="Orphanet:500159"} xref: OMIM:617751 {source="Orphanet:500159", source="DOID:0080235", source="MONDO:equivalentTo"} xref: Orphanet:500159 {source="MONDO:equivalentTo", source="OMIM:617751"} xref: UMLS:C4540321 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617751"} @@ -424987,7 +443618,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030914 name: Clark-Baraitser syndrome -subset: gard_rare {source="GARD:0009994"} +subset: gard_rare {source="GARD:9994"} synonym: "autosomal dominant intellectual disability 49" RELATED [DOID:0080234] synonym: "autosomal dominant mental retardation 49" RELATED DEPRECATED [DOID:0080234] synonym: "Baraitser syndrome" RELATED [OMIM:300602] @@ -424998,6 +443629,7 @@ synonym: "mental retardation, autosomal dominant 49" RELATED DEPRECATED [OMIM:61 synonym: "mental retardation, tall stature, obesity, macrocephaly and typical facial features" RELATED DEPRECATED [GARD:0009994] synonym: "MRD49" EXACT DEPRECATED [OMIM:617752] xref: DOID:0080234 {source="MONDO:equivalentTo"} +xref: GARD:9994 {source="Orphanet:600731"} xref: MESH:C536208 {source="MONDO:equivalentTo"} xref: OMIM:300602 {source="MONDO:equivalentObsolete"} xref: OMIM:617752 {source="MONDO:equivalentTo", source="DOID:0080234", source="MONDO:preferredExternal"} @@ -425062,6 +443694,7 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030918 name: intellectual disability, autosomal dominant 52 +subset: gard_rare {source="GARD:16472"} synonym: "autosomal dominant intellectual disability 52" RELATED [DOID:0080231] synonym: "autosomal dominant mental retardation 52" RELATED DEPRECATED [DOID:0080231] synonym: "intellectual disability, autosomal dominant 52" EXACT [OMIM:617796] @@ -425069,6 +443702,7 @@ synonym: "mental retardation, autosomal dominant 52" RELATED DEPRECATED [OMIM:61 synonym: "MRD52" RELATED DEPRECATED [OMIM:617796] xref: DOID:0080231 {source="MONDO:equivalentTo"} xref: EFO:0009152 {source="MONDO:equivalentTo"} +xref: GARD:16472 {source="OMIM:617796"} xref: OMIM:617796 {source="DOID:0080231", source="MONDO:equivalentTo"} xref: UMLS:C4540478 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617796"} xref: UMLS:CN671932 {source="MONDO:equivalentTo"} @@ -425078,6 +443712,7 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030919 name: intellectual disability, autosomal dominant 53 +subset: gard_rare {source="GARD:16473"} synonym: "autosomal dominant intellectual disability 53" RELATED [DOID:0080228] synonym: "autosomal dominant mental retardation 53" RELATED DEPRECATED [DOID:0080228] synonym: "intellectual disability, autosomal dominant 53" EXACT CLINGEN_PREFERRED [OMIM:617798] @@ -425085,6 +443720,7 @@ synonym: "mental retardation, autosomal dominant 53" RELATED DEPRECATED [OMIM:61 synonym: "MRD53" RELATED DEPRECATED [OMIM:617798] xref: DOID:0080228 {source="MONDO:equivalentTo"} xref: EFO:0009165 {source="MONDO:equivalentTo"} +xref: GARD:16473 {source="OMIM:617798"} xref: OMIM:617798 {source="MONDO:equivalentTo", source="DOID:0080228"} xref: Orphanet:178469 {source="OMIM:617798"} xref: UMLS:C4540481 {source="OMIM:617798", source="MONDO:notFoundInDiseaseSubset"} @@ -425094,6 +443730,7 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030920 name: intellectual disability, autosomal dominant 54 +subset: gard_rare {source="GARD:16474"} synonym: "autosomal dominant intellectual disability 54" RELATED [DOID:0080230] synonym: "autosomal dominant mental retardation 54" RELATED DEPRECATED [DOID:0080230] synonym: "intellectual disability, autosomal dominant 54" EXACT CLINGEN_PREFERRED [OMIM:617799] @@ -425101,6 +443738,7 @@ synonym: "mental retardation, autosomal dominant 54" RELATED DEPRECATED [OMIM:61 synonym: "MRD54" RELATED DEPRECATED [OMIM:617799] xref: DOID:0080230 {source="MONDO:equivalentTo"} xref: EFO:0009164 {source="MONDO:equivalentTo"} +xref: GARD:16474 {source="OMIM:617799"} xref: OMIM:617799 {source="DOID:0080230", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:617799"} xref: UMLS:C4540484 {source="OMIM:617799", source="MONDO:notFoundInDiseaseSubset"} @@ -425110,12 +443748,14 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030921 name: intellectual disability, autosomal dominant 55, with seizures +subset: gard_rare {source="GARD:16260"} synonym: "autosomal dominant intellectual disability 55" RELATED [DOID:0080227] synonym: "autosomal dominant mental retardation 55" RELATED DEPRECATED [DOID:0080227] synonym: "intellectual disability, autosomal dominant 55, with seizures" EXACT [OMIM:617831] synonym: "mental retardation, autosomal dominant 55, with seizures" RELATED DEPRECATED [OMIM:617831] synonym: "MRD55" RELATED DEPRECATED [OMIM:617831] xref: DOID:0080227 {source="MONDO:equivalentTo"} +xref: GARD:16260 {source="OMIM:617831"} xref: OMIM:617831 {source="MONDO:equivalentTo", source="DOID:0080227"} xref: Orphanet:442835 {source="OMIM:617831", source="MONDO:relatedTo"} xref: UMLS:CN757796 {source="MONDO:equivalentTo"} @@ -425125,12 +443765,14 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0030922 name: intellectual disability, autosomal dominant 56 +subset: gard_rare {source="GARD:13524"} synonym: "autosomal dominant intellectual disability 56" RELATED [DOID:0080226] synonym: "autosomal dominant mental retardation 56" RELATED DEPRECATED [DOID:0080226] synonym: "intellectual disability, autosomal dominant 56" EXACT [OMIM:617854] synonym: "mental retardation, autosomal dominant 56" RELATED DEPRECATED [OMIM:617854] synonym: "MRD56" RELATED DEPRECATED [OMIM:617854] xref: DOID:0080226 {source="MONDO:equivalentTo"} +xref: GARD:13524 {source="OMIM:617854"} xref: OMIM:617854 {source="MONDO:equivalentTo", source="DOID:0080226"} xref: Orphanet:178469 {source="OMIM:617854"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617854"} @@ -425149,16 +443791,20 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0030924 name: proteasome-associated autoinflammatory syndrome 5 +subset: gard_rare {source="GARD:18448"} synonym: "PRAAS5" EXACT ABBREVIATION [OMIM:619175] synonym: "proteasome-associated autoinflammatory syndrome 5" EXACT [OMIM:619175] +xref: GARD:18448 {source="OMIM:619175"} xref: OMIM:619175 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:619175"} ! proteosome-associated autoinflammatory syndrome [Term] id: MONDO:0030925 name: oocyte maturation defect 10 +subset: gard_rare {source="GARD:18500"} synonym: "oocyte maturation defect 10" EXACT [OMIM:619176] synonym: "OOMD10" EXACT ABBREVIATION [OMIM:619176] +xref: GARD:18500 {source="OMIM:619176"} xref: OMIM:619176 {source="MONDO:equivalentTo"} is_a: MONDO:0014769 {source="OMIM:619176"} ! inherited oocyte maturation defect @@ -425184,8 +443830,10 @@ is_a: MONDO:0018943 {source="OMIM:619178"} ! myofibrillar myopathy [Term] id: MONDO:0030928 name: microcephaly 26, primary, autosomal dominant +subset: gard_rare {source="GARD:16432"} synonym: "MCPH26" EXACT ABBREVIATION [OMIM:619179] synonym: "microcephaly 26, primary, autosomal dominant" EXACT [OMIM:619179] +xref: GARD:16432 {source="OMIM:619179"} xref: OMIM:619179 {source="MONDO:equivalentTo"} is_a: MONDO:0007988 {source="OMIM:619179", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -425195,8 +443843,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030929 name: microcephaly 27, primary, autosomal dominant +subset: gard_rare {source="GARD:16433"} synonym: "MCPH27" EXACT ABBREVIATION [OMIM:619180] synonym: "microcephaly 27, primary, autosomal dominant" EXACT [OMIM:619180] +xref: GARD:16433 {source="OMIM:619180"} xref: OMIM:619180 {source="MONDO:equivalentTo"} is_a: MONDO:0007988 {source="OMIM:619180", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -425206,7 +443856,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030930 name: neurodevelopmental disorder with or without early-onset generalized epilepsy +subset: gard_rare {source="GARD:18539"} synonym: "NEDEGE" EXACT ABBREVIATION [OMIM:619157] +xref: GARD:18539 {source="OMIM:619157"} xref: OMIM:619157 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -425215,34 +443867,42 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030931 name: proteasome-associated autoinflammatory syndrome 4 +subset: gard_rare {source="GARD:18449"} synonym: "PRAAS4" EXACT ABBREVIATION [OMIM:619183] synonym: "proteasome-associated autoinflammatory syndrome 4" EXACT [OMIM:619183] +xref: GARD:18449 {source="OMIM:619183"} xref: OMIM:619183 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:619183"} ! proteosome-associated autoinflammatory syndrome [Term] id: MONDO:0030933 name: Joubert syndrome 37 +subset: gard_rare {source="GARD:16434"} synonym: "JBTS37" EXACT ABBREVIATION [OMIM:619185] synonym: "Joubert syndrome 37" EXACT [OMIM:619185] +xref: GARD:16434 {source="OMIM:619185"} xref: OMIM:619185 {source="MONDO:equivalentTo"} is_a: MONDO:0018772 {source="OMIM:619185"} ! Joubert syndrome [Term] id: MONDO:0030934 name: intellectual developmental disorder, autosomal dominant 64 +subset: gard_rare {source="GARD:16478"} synonym: "intellectual developmental disorder, autosomal dominant 64" EXACT [OMIM:619188] synonym: "mental retardation, autosomal dominant 64" EXACT DEPRECATED [OMIM:619188] synonym: "MRD64" EXACT ABBREVIATION [OMIM:619188] +xref: GARD:16478 {source="OMIM:619188"} xref: OMIM:619188 {source="MONDO:equivalentTo"} is_a: MONDO:0100172 {source="OMIM:619188"} ! intellectual disability, autosomal dominant [Term] id: MONDO:0030935 name: mitochondrial complex 2 deficiency, nuclear type 2 +subset: gard_rare {source="GARD:16429"} synonym: "MC2DN2" EXACT ABBREVIATION [OMIM:619166] synonym: "mitochondrial complex 2 deficiency, nuclear type 2" EXACT [OMIM:619166] synonym: "mitochondrial complex II deficiency, nuclear type 2" EXACT [OMIM:619166, OMIM:genemap2] +xref: GARD:16429 {source="OMIM:619166"} xref: OMIM:619166 {source="MONDO:equivalentTo"} is_a: MONDO:0031230 {source="OMIM:619166"} ! mitochondrial complex II deficiency, nuclear type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425258,9 +443918,11 @@ is_a: MONDO:0020074 {source="OMIM:619191"} ! progressive myoclonus epilepsy [Term] id: MONDO:0030937 name: mitochondrial complex 2 deficiency, nuclear type 3 +subset: gard_rare {source="GARD:16430"} synonym: "MC2DN3" EXACT ABBREVIATION [OMIM:619167] synonym: "mitochondrial complex 2 deficiency, nuclear type 3" EXACT [OMIM:619167] synonym: "mitochondrial complex II deficiency, nuclear type 3" EXACT [OMIM:619167, OMIM:genemap2] +xref: GARD:16430 {source="OMIM:619167"} xref: OMIM:619167 {source="MONDO:equivalentTo"} is_a: MONDO:0031230 {source="OMIM:619167"} ! mitochondrial complex II deficiency, nuclear type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425268,9 +443930,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030938 name: spermatogenic failure 52 +subset: gard_rare {source="GARD:16436"} synonym: "spermatogenic failure 52" EXACT [OMIM:619202] synonym: "SPGF52" EXACT ABBREVIATION [OMIM:619202] xref: DOID:0112270 {source="MONDO:equivalentTo"} +xref: GARD:16436 {source="OMIM:619202"} xref: OMIM:619202 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:619202"} ! spermatogenic failure @@ -425286,16 +443950,20 @@ is_a: MONDO:0019852 {source="OMIM:619203"} ! inherited primary ovarian failure [Term] id: MONDO:0030941 name: erythrokeratodermia variabilis et progressiva 7 +subset: gard_rare {source="GARD:18674"} synonym: "EKVP7" EXACT ABBREVIATION [OMIM:619209] synonym: "erythrokeratodermia variabilis et progressiva 7" EXACT [OMIM:619209] +xref: GARD:18674 {source="OMIM:619209"} xref: OMIM:619209 {source="MONDO:equivalentTo"} is_a: MONDO:0017851 {source="OMIM:619209"} ! erythrokeratodermia variabilis [Term] id: MONDO:0030947 name: neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +subset: gard_rare {source="GARD:18023"} synonym: "CONRIBA" EXACT ABBREVIATION [OMIM:619173] synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [OMIM:619173, OMIM:genemap2] +xref: GARD:18023 {source="Orphanet:610573"} xref: OMIM:619173 {source="MONDO:equivalentTo"} xref: Orphanet:610573 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -425332,18 +444000,22 @@ is_a: MONDO:0044807 {source="OMIM:619921"} ! inherited dystonia [Term] id: MONDO:0030961 name: Olmsted syndrome 2 +subset: gard_rare {source="GARD:16437"} synonym: "OLMS2" EXACT ABBREVIATION [OMIM:619208] synonym: "Olmsted syndrome 2" EXACT [OMIM:619208] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2" EXACT [OMIM:619208] +xref: GARD:16437 {source="OMIM:619208"} xref: OMIM:619208 {source="MONDO:equivalentTo"} is_a: MONDO:0031421 {source="OMIM:619208"} ! Olmsted syndrome [Term] id: MONDO:0030962 name: nephrotic syndrome, type 23 +subset: gard_rare {source="GARD:16435"} synonym: "nephrotic syndrome, type 23" EXACT [OMIM:619201] synonym: "NPHS23" EXACT ABBREVIATION [OMIM:619201] xref: DOID:0112266 {source="MONDO:equivalentTo"} +xref: GARD:16435 {source="OMIM:619201"} xref: OMIM:619201 {source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="OMIM:619201"} ! familial nephrotic syndrome @@ -425441,9 +444113,11 @@ is_a: MONDO:0021094 {source="OMIM:619223"} ! immunodeficiency disease [Term] id: MONDO:0030974 name: mitochondrial complex 2 deficiency, nuclear type 4 +subset: gard_rare {source="GARD:16438"} synonym: "MC2DN4" EXACT [OMIM:619224] synonym: "mitochondrial complex 2 deficiency, nuclear type 4" EXACT [OMIM:619224] synonym: "mitochondrial complex II deficiency, nuclear type 4" EXACT [OMIM:619224, OMIM:genemap2] +xref: GARD:16438 {source="OMIM:619224"} xref: OMIM:619224 {source="MONDO:equivalentTo"} is_a: MONDO:0031230 {source="OMIM:619224"} ! mitochondrial complex II deficiency, nuclear type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425466,8 +444140,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0030977 name: neuronopathy, distal hereditary motor, autosomal recessive 7 +subset: gard_rare {source="GARD:18444"} synonym: "HMNMYO" EXACT ABBREVIATION [OMIM:619216] synonym: "neuropathy, hereditary motor, with myopathic features" EXACT [OMIM:619216] +xref: GARD:18444 {source="OMIM:619216"} xref: OMIM:619216 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015363 {source="OMIM:619216"} ! neuronopathy, distal hereditary motor, autosomal recessive @@ -425475,23 +444151,26 @@ is_a: MONDO:0015363 {source="OMIM:619216"} ! neuronopathy, distal hereditary mot [Term] id: MONDO:0030978 name: endove syndrome, limb-only type +subset: gard_rare {source="GARD:18560"} synonym: "ENDOVESL" EXACT ABBREVIATION [OMIM:619217] synonym: "Mesomelia of Lower Extremities With Hand and Foot Anomalies" EXACT [OMIM:619217] +xref: GARD:18560 {source="OMIM:619217"} xref: OMIM:619217 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030979 name: endove syndrome, limb-brain type +subset: gard_rare {source="GARD:18561"} synonym: "ENDOVESLB" EXACT ABBREVIATION [OMIM:619218] synonym: "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies" EXACT [OMIM:619218] +xref: GARD:18561 {source="OMIM:619218"} xref: OMIM:619218 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030981 name: immunodeficiency 79 -subset: gard_rare synonym: "CD4 Deficiency" EXACT [OMIM:619238] synonym: "IMD79" EXACT [OMIM:619238] synonym: "immunodeficiency 79" EXACT [OMIM:619238] @@ -425600,8 +444279,10 @@ is_a: MONDO:0031400 {source="OMIM:619950"} ! Tessadori-Van-Haaften neurodevelopm [Term] id: MONDO:0030994 name: neurodevelopmental disorder with or without autism or seizures +subset: gard_rare {source="GARD:18540"} synonym: "NEDAUS" EXACT ABBREVIATION [OMIM:619239] synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT CLINGEN_PREFERRED [] +xref: GARD:18540 {source="OMIM:619239"} xref: OMIM:619239 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -425610,17 +444291,21 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030995 name: global developmental delay with speech and behavioral abnormalities +subset: gard_rare {source="GARD:18541"} synonym: "GDSBA" EXACT ABBREVIATION [OMIM:619243] +xref: GARD:18541 {source="OMIM:619243"} xref: OMIM:619243 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030996 name: bleeding disorder, platelet-type, 24 +subset: gard_rare {source="GARD:18273"} synonym: "BDPLT24" EXACT [OMIM:619271] synonym: "bleeding disorder, platelet-type, 24" EXACT [OMIM:619271] synonym: "bleeding disorder, platelet-type, 24, autosomal dominant" EXACT [OMIM:619271, OMIM:genemap2] synonym: "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2" EXACT [OMIM:619271] +xref: GARD:18273 {source="OMIM:619271"} xref: OMIM:619271 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="OMIM:619271"} ! inherited bleeding disorder, platelet-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425628,9 +444313,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030997 name: mitochondrial complex 1 deficiency, nuclear type 37 +subset: gard_rare {source="GARD:16440"} synonym: "MC1DN37" EXACT [OMIM:619272] synonym: "mitochondrial complex 1 deficiency, nuclear type 37" EXACT [OMIM:619272] synonym: "mitochondrial complex I deficiency, nuclear type 37" EXACT [OMIM:619272, OMIM:genemap2] +xref: GARD:16440 {source="OMIM:619272"} xref: OMIM:619272 {source="MONDO:equivalentTo"} is_a: MONDO:0100223 {source="OMIM:619272"} ! mitochondrial complex I deficiency, nuclear type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425638,8 +444325,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030998 name: hearing loss, autosomal dominant 80 +subset: gard_rare {source="GARD:18158"} synonym: "deafness, autosomal dominant 80" NARROW [OMIM:619274, OMIM:genemap2] synonym: "DFNA80" NARROW [OMIM:619274] +xref: GARD:18158 {source="OMIM:619274"} xref: OMIM:619274 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:619274"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425648,7 +444337,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030999 name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism +subset: gard_rare {source="GARD:18542"} synonym: "NEDCAFD" EXACT ABBREVIATION [OMIM:619244] +xref: GARD:18542 {source="OMIM:619244"} xref: OMIM:619244 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -425680,9 +444371,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0031003 name: hypercholanemia, familial, 2 +subset: gard_rare {source="GARD:18341"} synonym: "FHCA2" EXACT ABBREVIATION [OMIM:619256] synonym: "hypercholanemia, familial 2" EXACT [OMIM:619256, OMIM:genemap2] synonym: "NTCP Deficiency" EXACT [OMIM:619256] +xref: GARD:18341 {source="OMIM:619256"} xref: OMIM:619256 {source="MONDO:equivalentTo"} is_a: MONDO:0100327 {source="OMIM:619256"} ! hypercholanemia, familial property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -425690,6 +444383,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0031004 name: obsolete genetic disorder of sex development of gynecological interest +subset: gard_rare {source="GARD:21480"} +xref: GARD:21480 {source="Orphanet:325665", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325665 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -425706,11 +444401,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0031007 name: spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +subset: gard_rare {source="GARD:18025"} subset: ordo_disorder synonym: "SHILCA" EXACT ABBREVIATION [OMIM:619260] synonym: "SHILCA syndrome" EXACT [OMIM:619260, Orphanet:611207] synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" EXACT [OMIM:619260, OMIM:genemap2] xref: DOID:0112290 {source="MONDO:equivalentTo"} +xref: GARD:18025 {source="Orphanet:611207"} xref: OMIM:619260 {source="MONDO:equivalentTo"} xref: Orphanet:611207 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -425723,10 +444420,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0031008 name: nephrotic syndrome, type 24 +subset: gard_rare {source="GARD:18003"} subset: ordo_disorder synonym: "idiopathic SRNS" EXACT [Orphanet:567548] synonym: "idiopathic steroid-resistant nephrotic syndrome" EXACT [Orphanet:567548] synonym: "NPHS24" EXACT ABBREVIATION [OMIM:619263] +xref: GARD:18003 {source="Orphanet:567548"} xref: OMIM:619263 {source="MONDO:equivalentTo"} xref: Orphanet:567548 {source="MONDO:equivalentTo"} is_a: MONDO:0005377 {source="OMIM:619263"} ! nephrotic syndrome @@ -425734,9 +444433,11 @@ is_a: MONDO:0005377 {source="OMIM:619263"} ! nephrotic syndrome [Term] id: MONDO:0031009 name: Glanzmann thrombasthenia 2 +subset: gard_rare {source="GARD:16439"} synonym: "bleeding disorder, platelet-type, 23" EXACT [OMIM:619267] synonym: "Glanzmann thrombasthenia 2" EXACT CLINGEN_PREFERRED [] synonym: "GT2" EXACT ABBREVIATION [OMIM:619267] +xref: GARD:16439 {source="OMIM:619267"} xref: OMIM:619267 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="OMIM:619267"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0100326 {source="OMIM:619267"} ! Glanzmann thrombasthenia @@ -425753,7 +444454,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0031011 name: neurodevelopmental disorder with dysmorphic facies and variable seizures +subset: gard_rare {source="GARD:18543"} synonym: "NEDDFAS" EXACT ABBREVIATION [OMIM:619264] +xref: GARD:18543 {source="OMIM:619264"} xref: OMIM:619264 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -425794,6 +444497,8 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity [Term] id: MONDO:0031016 name: obsolete genetic disorder of sex development +subset: gard_rare {source="GARD:21481"} +xref: GARD:21481 {source="MONDO:obsoleteEquivalent", source="Orphanet:325690"} xref: Orphanet:325690 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -425847,6 +444552,7 @@ is_a: MONDO:0019502 {source="OMIM:619988"} ! autosomal recessive non-syndromic i id: MONDO:0031037 name: famililal cerebral cavernous malformations def: "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." [Orphanet:221061] +subset: gard_rare {source="GARD:13641"} subset: ordo_malformation_syndrome {source="Orphanet:221061"} synonym: "cavernous angioma, familial" RELATED [OMIM:116860] synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860] @@ -425864,6 +444570,7 @@ synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061] synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] +xref: GARD:13641 {source="Orphanet:221061"} xref: ICD10CM:Q28.3 {source="Orphanet:221061/attributed", source="Orphanet:221061/ntbt", source="Orphanet:221061"} xref: OMIMPS:116860 {source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="OMIM:116860", source="MONDO:equivalentTo"} @@ -426103,7 +444810,9 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167870"} ! inheri id: MONDO:0031257 name: high altitude pulmonary edema def: "A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe." [Orphanet:330012] +subset: gard_rare {source="GARD:21502"} subset: ordo_disorder +xref: GARD:21502 {source="Orphanet:330012"} xref: ICD10CM:J81 {source="Orphanet:330012"} xref: Orphanet:330012 {source="MONDO:equivalentTo"} xref: UMLS:C0340100 {source="Orphanet:330012"} @@ -426122,8 +444831,10 @@ id: MONDO:0031322 name: triopia def: "A craniofacial malformation with prosencephalic duplication; the presence of three eyes." [PMID:7548108] comment: The definition is based on a single case report [PMID:7548108]. +subset: gard_rare {source="GARD:5286"} subset: n_of_one subset: ordo_disorder +xref: GARD:5286 {source="Orphanet:3374"} xref: ICD10CM:Q15.8 {source="MONDO:mondoIsNarrowerThanSource.", source="Orphanet:3374"} xref: Orphanet:3374 {source="MONDO:equivalentTo"} is_a: MONDO:0002285 {source="https://orcid.org/0000-0001-5208-3432"} ! pupil disorder @@ -426150,6 +444861,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0031332 name: Glanzmann thrombasthenia 1 def: "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" [Orphanet:849] +subset: gard_rare {source="GARD:15240"} subset: ordo_disease {source="Orphanet:849"} synonym: "BDPLT2" EXACT ABBREVIATION [DOID:2219] synonym: "bleeding disorder, Platelet-type, 2" RELATED [OMIM:273800] @@ -426175,6 +444887,7 @@ synonym: "thrombasthenia" EXACT [NCIT:C61249] synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800] synonym: "Thrombocytasthenia" EXACT [DOID:2219] xref: DOID:2219 {source="MONDO:equivalentTo"} +xref: GARD:15240 {source="OMIM:273800"} xref: ICD10CM:D69.1 {source="Orphanet:849/inclusion", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/ntbt"} xref: MESH:D013915 {source="MONDO:equivalentTo", source="DOID:2219"} xref: NCIT:C61249 {source="MONDO:equivalentTo", source="DOID:2219"} @@ -426220,6 +444933,8 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619758"} ! inheri [Term] id: MONDO:0031415 name: Carey-Fineman-Ziter syndrome +subset: gard_rare {source="GARD:3889"} +xref: GARD:3889 {source="Orphanet:1358"} xref: OMIMPS:254940 {source="MONDO:equivalentTo"} xref: Orphanet:1358 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIMPS:254940"} ! hereditary disease @@ -426231,10 +444946,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0031421 name: Olmsted syndrome def: "A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." [https://orcid.org/0000-0001-5208-3432, Orphanet:659] +subset: gard_rare {source="GARD:4075"} synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [Orphanet:659] synonym: "palmoplantar and periorificial keratoderma" EXACT [OMIM:614594, Orphanet:659] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014, OMIM:614594] xref: DOID:0112011 {source="MONDO:equivalentTo"} +xref: GARD:4075 {source="Orphanet:659"} xref: ICD10CM:Q82.8 {source="Orphanet:659", source="Orphanet:659/attributed", source="Orphanet:659/ntbt"} xref: MedDRA:10068842 {source="Orphanet:659", source="Orphanet:659/e"} xref: OMIMPS:614594 {source="MONDO:equivalentTo"} @@ -426274,9 +444991,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0031446 name: hypercholanemia, familial 1 def: "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." [Orphanet:238475] +subset: gard_rare {source="GARD:18340", source="GARD:17173"} subset: ordo_disease {source="Orphanet:238475"} synonym: "FHCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607748] synonym: "hereditary hypercholanemia" BROAD [Orphanet:238475] +xref: GARD:17173 {source="Orphanet:238475"} +xref: GARD:18340 {source="OMIM:607748"} xref: MESH:C564336 {source="MONDO:equivalentTo"} xref: OMIM:607748 {source="Orphanet:238475/e", source="MONDO:equivalentTo", source="Orphanet:238475"} xref: Orphanet:238475 {source="OMIM:607748", source="MONDO:equivalentTo"} @@ -426295,10 +445015,13 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613112"} ! inheri [Term] id: MONDO:0031481 name: microcephaly, epilepsy, and diabetes syndrome 1 +subset: gard_rare {source="GARD:18438", source="GARD:17381"} subset: ordo_disease {source="Orphanet:306558"} synonym: "MEDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614231] synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical, OMIM:614231, OMIM:genemap2] synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647] +xref: GARD:17381 {source="Orphanet:306558"} +xref: GARD:18438 {source="OMIM:614231"} xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source="Orphanet:306558/e"} xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"} xref: UMLS:C3280240 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614231"} @@ -426345,6 +445068,8 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619980"} ! inheri [Term] id: MONDO:0031689 name: obsolete genetic progeroid syndrome +subset: gard_rare {source="GARD:21543"} +xref: GARD:21543 {source="MONDO:obsoleteEquivalent", source="Orphanet:363245"} xref: ICD10CM:E34.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:363245 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} @@ -426354,6 +445079,8 @@ is_obsolete: true [Term] id: MONDO:0031697 name: obsolete genetic intractable diarrhea of infancy +subset: gard_rare {source="GARD:21546"} +xref: GARD:21546 {source="MONDO:obsoleteEquivalent", source="Orphanet:363300"} xref: Orphanet:363300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -426362,6 +445089,8 @@ is_obsolete: true [Term] id: MONDO:0031698 name: obsolete genetic intestinal disease due to fat malabsorption +subset: gard_rare {source="GARD:21547"} +xref: GARD:21547 {source="MONDO:obsoleteEquivalent", source="Orphanet:363306"} xref: Orphanet:363306 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -426370,6 +445099,8 @@ is_obsolete: true [Term] id: MONDO:0031799 name: obsolete rare bone disease related to a common gene or pathway defect +subset: gard_rare {source="GARD:21575"} +xref: GARD:21575 {source="MONDO:obsoleteEquivalent", source="Orphanet:364803"} xref: Orphanet:364803 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -426379,6 +445110,8 @@ consider: MONDO:0005381 [Term] id: MONDO:0031949 name: obsolete genetic neurovascular malformation +subset: gard_rare {source="GARD:21614"} +xref: GARD:21614 {source="MONDO:obsoleteEquivalent", source="Orphanet:371436"} xref: Orphanet:371436 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -426387,6 +445120,8 @@ is_obsolete: true [Term] id: MONDO:0031952 name: obsolete genetic syndromic esophageal malformation +subset: gard_rare {source="GARD:21616"} +xref: GARD:21616 {source="MONDO:obsoleteEquivalent", source="Orphanet:371445"} xref: Orphanet:371445 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -426422,6 +445157,8 @@ is_obsolete: true [Term] id: MONDO:0032221 name: obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +subset: gard_rare {source="GARD:21680"} +xref: GARD:21680 {source="MONDO:obsoleteEquivalent", source="Orphanet:399846"} xref: Orphanet:399846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -426430,9 +445167,11 @@ is_obsolete: true [Term] id: MONDO:0032485 name: intellectual developmental disorder 61 +subset: gard_rare {source="GARD:18514"} synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61" RELATED [OMIM:618009] synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] synonym: "MRD61" RELATED ABBREVIATION [OMIM:618009] +xref: GARD:18514 {source="OMIM:618009"} xref: OMIM:618009 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="OMIM:618009"} ! disease is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability @@ -426452,8 +445191,10 @@ is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxi [Term] id: MONDO:0032564 name: hennekam lymphangiectasia-lymphedema syndrome 3 +subset: gard_rare {source="GARD:16296"} synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3" RELATED [OMIM:618154] synonym: "HKLLS3" RELATED ABBREVIATION [OMIM:618154] +xref: GARD:16296 {source="OMIM:618154"} xref: OMIM:618154 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:618154"} xref: UMLS:C4748408 {source="OMIM:618154"} @@ -426520,8 +445261,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032570 name: Joubert syndrome 35 +subset: gard_rare {source="GARD:16297"} synonym: "JBTS35" RELATED ABBREVIATION [OMIM:618161] synonym: "JOUBERT SYNDROME 35" RELATED [OMIM:618161] +xref: GARD:16297 {source="OMIM:618161"} xref: OMIM:618161 {source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:618161"} xref: UMLS:C4748442 {source="OMIM:618161"} @@ -426590,9 +445333,11 @@ replaced_by: MONDO:0100095 [Term] id: MONDO:0032577 name: retinitis pigmentosa 83 +subset: gard_rare {source="GARD:16298"} synonym: "RETINITIS PIGMENTOSA 83" RELATED [OMIM:618173] synonym: "RP83" RELATED ABBREVIATION [OMIM:618173] xref: DOID:0112140 {source="MONDO:equivalentTo"} +xref: GARD:16298 {source="OMIM:618173"} xref: OMIM:618173 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618173"} xref: UMLS:C4748536 {source="OMIM:618173"} @@ -426621,9 +445366,11 @@ is_a: MONDO:0003847 {source="OMIM:618175"} ! hereditary disease [Term] id: MONDO:0032580 name: nephrotic syndrome, type 17 +subset: gard_rare {source="GARD:16299"} synonym: "NEPHROTIC SYNDROME, TYPE 17" RELATED [OMIM:618176] synonym: "NPHS17" RELATED ABBREVIATION [OMIM:618176] xref: DOID:0080392 {source="MONDO:equivalentTo"} +xref: GARD:16299 {source="OMIM:618176"} xref: OMIM:618176 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618176"} xref: UMLS:C4748545 {source="OMIM:618176"} @@ -426633,9 +445380,11 @@ is_a: MONDO:0003847 {source="OMIM:618176"} ! hereditary disease [Term] id: MONDO:0032581 name: nephrotic syndrome, type 18 +subset: gard_rare {source="GARD:16300"} synonym: "NEPHROTIC SYNDROME, TYPE 18" RELATED [OMIM:618177] synonym: "NPHS18" RELATED ABBREVIATION [OMIM:618177] xref: DOID:0080393 {source="MONDO:equivalentTo"} +xref: GARD:16300 {source="OMIM:618177"} xref: OMIM:618177 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618177"} xref: UMLS:C4748549 {source="OMIM:618177"} @@ -426645,9 +445394,11 @@ is_a: MONDO:0003847 {source="OMIM:618177"} ! hereditary disease [Term] id: MONDO:0032582 name: nephrotic syndrome, type 19 +subset: gard_rare {source="GARD:16301"} synonym: "NEPHROTIC SYNDROME, TYPE 19" RELATED [OMIM:618178] synonym: "NPHS19" RELATED ABBREVIATION [OMIM:618178] xref: DOID:0080394 {source="MONDO:equivalentTo"} +xref: GARD:16301 {source="OMIM:618178"} xref: OMIM:618178 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618178"} xref: UMLS:C4748552 {source="OMIM:618178"} @@ -426657,8 +445408,10 @@ is_a: MONDO:0003847 {source="OMIM:618178"} ! hereditary disease [Term] id: MONDO:0032583 name: microcephaly 24, primary, autosomal recessive +subset: gard_rare {source="GARD:16302"} synonym: "MCPH24" RELATED ABBREVIATION [OMIM:618179] synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618179] +xref: GARD:16302 {source="OMIM:618179"} xref: OMIM:618179 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618179"} xref: UMLS:C4748555 {source="OMIM:618179"} @@ -426690,8 +445443,10 @@ is_a: MONDO:0003847 {source="OMIM:618183"} ! hereditary disease [Term] id: MONDO:0032588 name: periventricular nodular heterotopia 8 +subset: gard_rare {source="GARD:16303"} synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8" RELATED [OMIM:618185] synonym: "PVNH8" RELATED ABBREVIATION [OMIM:618185] +xref: GARD:16303 {source="OMIM:618185"} xref: OMIM:618185 {source="MONDO:equivalentTo"} xref: Orphanet:98892 {source="OMIM:618185"} xref: UMLS:C4748602 {source="OMIM:618185"} @@ -426712,8 +445467,10 @@ is_a: MONDO:0009299 {source="OMIM:618187"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0032591 name: hyperparathyroidism, transient neonatal +subset: gard_rare {source="GARD:16304"} synonym: "HRPTTN" EXACT ABBREVIATION [OMIM:618188] synonym: "hyperparathyroidism, transient neonatal" EXACT [OMIM:618188] +xref: GARD:16304 {source="OMIM:618188"} xref: OMIM:618188 {source="MONDO:equivalentTo"} xref: Orphanet:417 {source="OMIM:618188"} xref: UMLS:C1300287 {source="OMIM:618188"} @@ -426726,9 +445483,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032592 name: cardiomyopathy, dilated, 2c def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34." [DOID:0081159] +subset: gard_rare {source="GARD:16305"} synonym: "CARDIOMYOPATHY, DILATED, 2C" RELATED [OMIM:618189] synonym: "CMD2C" RELATED ABBREVIATION [OMIM:618189] xref: DOID:0081159 {source="MONDO:equivalentTo"} +xref: GARD:16305 {source="OMIM:618189"} xref: OMIM:618189 {source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:618189"} xref: UMLS:C4748647 {source="OMIM:618189"} @@ -426738,8 +445497,10 @@ is_a: MONDO:0005021 {source="DOID:0081159"} ! dilated cardiomyopathy [Term] id: MONDO:0032594 name: intellectual developmental disorder and retinitis pigmentosa; IDDRP +subset: gard_rare {source="GARD:16306"} synonym: "IDDRP" RELATED ABBREVIATION [OMIM:618195] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" RELATED [OMIM:618195] +xref: GARD:16306 {source="OMIM:618195"} xref: OMIM:618195 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618195"} xref: UMLS:C4748658 {source="OMIM:618195"} @@ -426750,8 +445511,10 @@ relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa [Term] id: MONDO:0032596 name: myasthenic syndrome, congenital, 23, presynaptic +subset: gard_rare {source="GARD:16308"} synonym: "CMS23" RELATED ABBREVIATION [OMIM:618197] synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC" RELATED [OMIM:618197] +xref: GARD:16308 {source="OMIM:618197"} xref: OMIM:618197 {source="MONDO:equivalentTo"} xref: Orphanet:98914 {source="OMIM:618197"} xref: UMLS:C4748678 {source="OMIM:618197"} @@ -426763,8 +445526,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032597 name: myasthenic syndrome, congenital, 24, presynaptic +subset: gard_rare {source="GARD:16309"} synonym: "CMS24" RELATED ABBREVIATION [OMIM:618198] synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC" RELATED [OMIM:618198] +xref: GARD:16309 {source="OMIM:618198"} xref: OMIM:618198 {source="MONDO:equivalentTo"} xref: Orphanet:98914 {source="OMIM:618198"} xref: UMLS:C4748684 {source="OMIM:618198"} @@ -426776,12 +445541,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032598 name: developmental and epileptic encephalopathy, 68 +subset: gard_rare {source="GARD:16310"} synonym: "DEE68" EXACT ABBREVIATION [OMIM:618201] synonym: "developmental and epileptic encephalopathy 68" EXACT [OMIM:618201, OMIM:genemap2] synonym: "EIEE68" EXACT ABBREVIATION [OMIM:618201] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68" EXACT [OMIM:618201] synonym: "epileptic encephalopathy, early infantile, 68" EXACT [OMIM:618201] xref: DOID:0112204 {source="MONDO:equivalentTo"} +xref: GARD:16310 {source="OMIM:618201"} xref: OMIM:618201 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618201"} xref: UMLS:C4748688 {source="OMIM:618201"} @@ -426792,9 +445559,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032599 name: immunodeficiency 15a +subset: gard_rare {source="GARD:18469"} synonym: "IMD15A" RELATED ABBREVIATION [OMIM:618204] synonym: "IMMUNODEFICIENCY 15A" RELATED [OMIM:618204] xref: DOID:0111960 {source="MONDO:equivalentTo"} +xref: GARD:18469 {source="OMIM:618204"} xref: OMIM:618204 {source="MONDO:equivalentTo"} xref: Orphanet:397787 {source="OMIM:618204"} xref: UMLS:C4748694 {source="OMIM:618204"} @@ -426804,9 +445573,11 @@ is_a: MONDO:0021094 {source="OMIM:618204"} ! immunodeficiency disease [Term] id: MONDO:0032600 name: Snijders Blok-Campeau syndrome +subset: gard_rare {source="GARD:13806"} synonym: "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies" EXACT [OMIM:618205] synonym: "SNIBCPS" RELATED ABBREVIATION [OMIM:618205] synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME" RELATED [OMIM:618205] +xref: GARD:13806 {source="Orphanet:599082"} xref: OMIM:618205 {source="MONDO:equivalentTo"} xref: Orphanet:599082 {source="MONDO:equivalentTo"} xref: UMLS:C4748701 {source="OMIM:618205"} @@ -426815,8 +445586,10 @@ is_a: MONDO:0003847 {source="OMIM:618205"} ! hereditary disease [Term] id: MONDO:0032601 name: inflammatory bowel disease, immunodeficiency, and encephalopathy +subset: gard_rare {source="GARD:18000"} synonym: "IBDIMDE" RELATED ABBREVIATION [OMIM:618213] synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY" RELATED [OMIM:618213] +xref: GARD:18000 {source="Orphanet:565788"} xref: OMIM:618213 {source="MONDO:equivalentTo"} xref: Orphanet:565788 {source="MONDO:equivalentTo", source="OMIM:618213"} xref: UMLS:C4748708 {source="OMIM:618213"} @@ -426825,8 +445598,10 @@ is_a: MONDO:0003847 {source="OMIM:618213"} ! hereditary disease [Term] id: MONDO:0032603 name: polydactyly, postaxial, type A9 +subset: gard_rare {source="GARD:18177"} synonym: "PAPA9" RELATED ABBREVIATION [OMIM:618219] synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9" RELATED [OMIM:618219] +xref: GARD:18177 {source="OMIM:618219"} xref: OMIM:618219 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:618219"} xref: UMLS:C4748721 {source="OMIM:618219"} @@ -426836,9 +445611,11 @@ is_a: MONDO:0020927 {source="OMIM:618219"} ! postaxial polydactyly [Term] id: MONDO:0032604 name: retinitis pigmentosa 84 +subset: gard_rare {source="GARD:16311"} synonym: "RETINITIS PIGMENTOSA 84" RELATED [OMIM:618220] synonym: "RP84" RELATED ABBREVIATION [OMIM:618220] xref: DOID:0112141 {source="MONDO:equivalentTo"} +xref: GARD:16311 {source="OMIM:618220"} xref: OMIM:618220 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618220"} xref: UMLS:C4748725 {source="OMIM:618220"} @@ -426848,10 +445625,12 @@ is_a: MONDO:0019200 {source="OMIM:618220"} ! retinitis pigmentosa [Term] id: MONDO:0032605 name: intellectual disability, autosomal recessive 66 +subset: gard_rare {source="GARD:22579"} synonym: "intellectual developmental disorder, autosomal recessive 66" EXACT [OMIM:618221, OMIM:genemap2] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66" RELATED [OMIM:618221] synonym: "MRT66" RELATED ABBREVIATION [OMIM:618221] xref: DOID:0081227 {source="MONDO:equivalentTo"} +xref: GARD:22579 {source="OMIM:618221"} xref: OMIM:618221 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618221"} xref: UMLS:C4748732 {source="OMIM:618221"} @@ -426862,9 +445641,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032606 name: mitochondrial complex 1 deficiency, nuclear type 2 +subset: gard_rare {source="GARD:16312"} synonym: "MC1DN2" RELATED ABBREVIATION [OMIM:618222] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2" RELATED [OMIM:618222] xref: DOID:0112083 {source="MONDO:equivalentTo"} +xref: GARD:16312 {source="OMIM:618222"} xref: OMIM:618222 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618222"} xref: Orphanet:2609 {source="OMIM:618222"} @@ -426887,9 +445668,11 @@ is_a: MONDO:0003847 {source="OMIM:618223"} ! hereditary disease [Term] id: MONDO:0032608 name: mitochondrial complex 1 deficiency, nuclear type 3 +subset: gard_rare {source="GARD:16313"} synonym: "MC1DN3" RELATED ABBREVIATION [OMIM:618224] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3" RELATED [OMIM:618224] xref: DOID:0112093 {source="MONDO:equivalentTo"} +xref: GARD:16313 {source="OMIM:618224"} xref: OMIM:618224 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618224"} xref: Orphanet:2609 {source="OMIM:618224"} @@ -426902,9 +445685,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032609 name: mitochondrial complex 1 deficiency, nuclear type 4 +subset: gard_rare {source="GARD:16314"} synonym: "MC1DN4" RELATED ABBREVIATION [OMIM:618225] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4" RELATED [OMIM:618225] xref: DOID:0112082 {source="MONDO:equivalentTo"} +xref: GARD:16314 {source="OMIM:618225"} xref: OMIM:618225 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618225"} xref: Orphanet:2609 {source="OMIM:618225"} @@ -426917,9 +445702,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032610 name: mitochondrial complex 1 deficiency, nuclear type 5 +subset: gard_rare {source="GARD:16315"} synonym: "MC1DN5" RELATED ABBREVIATION [OMIM:618226] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" RELATED [OMIM:618226] xref: DOID:0112068 {source="MONDO:equivalentTo"} +xref: GARD:16315 {source="OMIM:618226"} xref: OMIM:618226 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618226"} xref: Orphanet:2609 {source="OMIM:618226"} @@ -426932,9 +445719,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032611 name: mitochondrial complex 1 deficiency, nuclear type 6 +subset: gard_rare {source="GARD:16316"} synonym: "MC1DN6" RELATED ABBREVIATION [OMIM:618228] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618228] xref: DOID:0112066 {source="MONDO:equivalentTo"} +xref: GARD:16316 {source="OMIM:618228"} xref: OMIM:618228 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618228"} xref: Orphanet:2609 {source="OMIM:618228"} @@ -426948,9 +445737,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032612 name: mitochondrial complex 1 deficiency, nuclear type 7 +subset: gard_rare {source="GARD:16317"} synonym: "MC1DN7" RELATED ABBREVIATION [OMIM:618229] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7" RELATED [OMIM:618229] xref: DOID:0112092 {source="MONDO:equivalentTo"} +xref: GARD:16317 {source="OMIM:618229"} xref: OMIM:618229 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618229"} xref: Orphanet:2609 {source="OMIM:618229"} @@ -426963,9 +445754,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032613 name: mitochondrial complex 1 deficiency, nuclear type 8 +subset: gard_rare {source="GARD:16318"} synonym: "MC1DN8" RELATED ABBREVIATION [OMIM:618230] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" RELATED [OMIM:618230] xref: DOID:0112081 {source="MONDO:equivalentTo"} +xref: GARD:16318 {source="OMIM:618230"} xref: OMIM:618230 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618230"} xref: Orphanet:2609 {source="OMIM:618230"} @@ -426993,9 +445786,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032615 name: mitochondrial complex 1 deficiency, nuclear type 9 +subset: gard_rare {source="GARD:16319"} synonym: "MC1DN9" RELATED ABBREVIATION [OMIM:618232] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9" RELATED [OMIM:618232] xref: DOID:0112073 {source="MONDO:equivalentTo"} +xref: GARD:16319 {source="OMIM:618232"} xref: OMIM:618232 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618232"} xref: UMLS:C4748767 {source="OMIM:618232"} @@ -427007,9 +445802,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032616 name: mitochondrial complex 1 deficiency, nuclear type 10 +subset: gard_rare {source="GARD:16320"} synonym: "MC1DN10" RELATED ABBREVIATION [OMIM:618233] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618233] xref: DOID:0112075 {source="MONDO:equivalentTo"} +xref: GARD:16320 {source="OMIM:618233"} xref: OMIM:618233 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618233"} xref: Orphanet:2609 {source="OMIM:618233"} @@ -427022,9 +445819,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032617 name: mitochondrial complex 1 deficiency, nuclear type 11 +subset: gard_rare {source="GARD:16321"} synonym: "MC1DN11" RELATED ABBREVIATION [OMIM:618234] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11" RELATED [OMIM:618234] xref: DOID:0112089 {source="MONDO:equivalentTo"} +xref: GARD:16321 {source="OMIM:618234"} xref: OMIM:618234 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618234"} xref: UMLS:C4748769 {source="OMIM:618234"} @@ -427036,9 +445835,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032618 name: mitochondrial complex 1 deficiency, nuclear type 13 +subset: gard_rare {source="GARD:18371"} synonym: "MC1DN13" RELATED ABBREVIATION [OMIM:618235] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13" RELATED [OMIM:618235] xref: DOID:0112076 {source="MONDO:equivalentTo"} +xref: GARD:18371 {source="OMIM:618235"} xref: OMIM:618235 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618235"} xref: UMLS:C4748770 {source="OMIM:618235"} @@ -427050,9 +445851,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032619 name: mitochondrial complex 1 deficiency, nuclear type 14 +subset: gard_rare {source="GARD:16322"} synonym: "MC1DN14" RELATED ABBREVIATION [OMIM:618236] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14" RELATED [OMIM:618236] xref: DOID:0112094 {source="MONDO:equivalentTo"} +xref: GARD:16322 {source="OMIM:618236"} xref: OMIM:618236 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618236"} xref: UMLS:C4748777 {source="OMIM:618236"} @@ -427064,9 +445867,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032620 name: mitochondrial complex 1 deficiency, nuclear type 15 +subset: gard_rare {source="GARD:16323"} synonym: "MC1DN15" RELATED ABBREVIATION [OMIM:618237] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15" RELATED [OMIM:618237] xref: DOID:0112077 {source="MONDO:equivalentTo"} +xref: GARD:16323 {source="OMIM:618237"} xref: OMIM:618237 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618237"} xref: UMLS:C4748778 {source="OMIM:618237"} @@ -427078,9 +445883,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032621 name: mitochondrial complex 1 deficiency, nuclear type 16 +subset: gard_rare {source="GARD:16324"} synonym: "MC1DN16" RELATED ABBREVIATION [OMIM:618238] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16" RELATED [OMIM:618238] xref: DOID:0112096 {source="MONDO:equivalentTo"} +xref: GARD:16324 {source="OMIM:618238"} xref: OMIM:618238 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618238"} xref: UMLS:C4748785 {source="OMIM:618238"} @@ -427092,9 +445899,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032622 name: mitochondrial complex 1 deficiency, nuclear type 17 +subset: gard_rare {source="GARD:18372"} synonym: "MC1DN17" RELATED ABBREVIATION [OMIM:618239] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17" RELATED [OMIM:618239] xref: DOID:0112078 {source="MONDO:equivalentTo"} +xref: GARD:18372 {source="OMIM:618239"} xref: OMIM:618239 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618239"} xref: UMLS:C4748786 {source="OMIM:618239"} @@ -427106,9 +445915,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032623 name: mitochondrial complex 1 deficiency, nuclear type 18 +subset: gard_rare {source="GARD:16325"} synonym: "MC1DN18" RELATED ABBREVIATION [OMIM:618240] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18" RELATED [OMIM:618240] xref: DOID:0112070 {source="MONDO:equivalentTo"} +xref: GARD:16325 {source="OMIM:618240"} xref: OMIM:618240 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618240"} xref: Orphanet:2609 {source="OMIM:618240"} @@ -427121,9 +445932,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032624 name: mitochondrial complex 1 deficiency, nuclear type 19 +subset: gard_rare {source="GARD:16326"} synonym: "MC1DN19" RELATED ABBREVIATION [OMIM:618241] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19" RELATED [OMIM:618241] xref: DOID:0112085 {source="MONDO:equivalentTo"} +xref: GARD:16326 {source="OMIM:618241"} xref: OMIM:618241 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618241"} xref: Orphanet:2609 {source="OMIM:618241"} @@ -427136,9 +445949,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032625 name: mitochondrial complex 1 deficiency, nuclear type 21 +subset: gard_rare {source="GARD:16327"} synonym: "MC1DN21" RELATED ABBREVIATION [OMIM:618242] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21" RELATED [OMIM:618242] xref: DOID:0112088 {source="MONDO:equivalentTo"} +xref: GARD:16327 {source="OMIM:618242"} xref: OMIM:618242 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618242"} xref: UMLS:C4748792 {source="OMIM:618242"} @@ -427150,9 +445965,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032626 name: mitochondrial complex 1 deficiency, nuclear type 22 +subset: gard_rare {source="GARD:18373"} synonym: "MC1DN22" RELATED ABBREVIATION [OMIM:618243] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22" RELATED [OMIM:618243] xref: DOID:0112069 {source="MONDO:equivalentTo"} +xref: GARD:18373 {source="OMIM:618243"} xref: OMIM:618243 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618243"} xref: UMLS:C4748796 {source="OMIM:618243"} @@ -427164,9 +445981,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032627 name: mitochondrial complex 1 deficiency, nuclear type 23 +subset: gard_rare {source="GARD:18374"} synonym: "MC1DN23" RELATED ABBREVIATION [OMIM:618244] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23" RELATED [OMIM:618244] xref: DOID:0112087 {source="MONDO:equivalentTo"} +xref: GARD:18374 {source="OMIM:618244"} xref: OMIM:618244 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618244"} xref: UMLS:C4748799 {source="OMIM:618244"} @@ -427178,9 +445997,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032628 name: mitochondrial complex 1 deficiency, nuclear type 24 +subset: gard_rare {source="GARD:16328"} synonym: "MC1DN24" RELATED ABBREVIATION [OMIM:618245] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24" RELATED [OMIM:618245] xref: DOID:0112079 {source="MONDO:equivalentTo"} +xref: GARD:16328 {source="OMIM:618245"} xref: OMIM:618245 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618245"} xref: UMLS:C4748803 {source="OMIM:618245"} @@ -427192,9 +446013,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032629 name: mitochondrial complex 1 deficiency, nuclear type 25 +subset: gard_rare {source="GARD:16329"} synonym: "MC1DN25" RELATED ABBREVIATION [OMIM:618246] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25" RELATED [OMIM:618246] xref: DOID:0112067 {source="MONDO:equivalentTo"} +xref: GARD:16329 {source="OMIM:618246"} xref: OMIM:618246 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618246"} xref: UMLS:C4748806 {source="OMIM:618246"} @@ -427219,9 +446042,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032631 name: mitochondrial complex 1 deficiency, nuclear type 27 +subset: gard_rare {source="GARD:18375"} synonym: "MC1DN27" RELATED ABBREVIATION [OMIM:618248] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27" RELATED [OMIM:618248] xref: DOID:0112090 {source="MONDO:equivalentTo"} +xref: GARD:18375 {source="OMIM:618248"} xref: OMIM:618248 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618248"} xref: UMLS:C4748826 {source="OMIM:618248"} @@ -427233,9 +446058,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032632 name: mitochondrial complex 1 deficiency, nuclear type 28 +subset: gard_rare {source="GARD:18376"} synonym: "MC1DN28" RELATED ABBREVIATION [OMIM:618249] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28" RELATED [OMIM:618249] xref: DOID:0112095 {source="MONDO:equivalentTo"} +xref: GARD:18376 {source="OMIM:618249"} xref: OMIM:618249 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618249"} xref: UMLS:C4748827 {source="OMIM:618249"} @@ -427247,9 +446074,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032633 name: mitochondrial complex 1 deficiency, nuclear type 29 +subset: gard_rare {source="GARD:16330"} synonym: "MC1DN29" RELATED ABBREVIATION [OMIM:618250] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" RELATED [OMIM:618250] xref: DOID:0112084 {source="MONDO:equivalentTo"} +xref: GARD:16330 {source="OMIM:618250"} xref: OMIM:618250 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618250"} xref: UMLS:C4748830 {source="OMIM:618250"} @@ -427261,9 +446090,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032634 name: mitochondrial complex 1 deficiency, nuclear type 31 +subset: gard_rare {source="GARD:16331"} synonym: "MC1DN31" RELATED ABBREVIATION [OMIM:618251] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31" RELATED [OMIM:618251] xref: DOID:0112071 {source="MONDO:equivalentTo"} +xref: GARD:16331 {source="OMIM:618251"} xref: OMIM:618251 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618251"} xref: UMLS:C4748838 {source="OMIM:618251"} @@ -427275,9 +446106,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032635 name: mitochondrial complex 1 deficiency, nuclear type 32 +subset: gard_rare {source="GARD:18067"} synonym: "MC1DN32" RELATED ABBREVIATION [OMIM:618252] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32" RELATED [OMIM:618252] xref: DOID:0112080 {source="MONDO:equivalentTo"} +xref: GARD:18067 {source="OMIM:618252"} xref: OMIM:618252 {source="MONDO:equivalentTo"} xref: Orphanet:70474 {source="OMIM:618252"} xref: UMLS:C4748839 {source="OMIM:618252"} @@ -427289,9 +446122,11 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032636 name: mitochondrial complex 1 deficiency, nuclear type 33 +subset: gard_rare {source="GARD:16332"} synonym: "MC1DN33" RELATED ABBREVIATION [OMIM:618253] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33" RELATED [OMIM:618253] xref: DOID:0112097 {source="MONDO:equivalentTo"} +xref: GARD:16332 {source="OMIM:618253"} xref: OMIM:618253 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618253"} xref: UMLS:C4748840 {source="OMIM:618253"} @@ -427315,9 +446150,11 @@ is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia [Term] id: MONDO:0032639 name: hearing loss, autosomal recessive 112 +subset: gard_rare {source="GARD:18377"} synonym: "deafness, autosomal recessive 112" NARROW [OMIM:618257, OMIM:genemap2] synonym: "DFNB112" NARROW ABBREVIATION [OMIM:618257] xref: DOID:0111637 {source="MONDO:equivalentTo"} +xref: GARD:18377 {source="OMIM:618257"} xref: OMIM:618257 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618257"} xref: Orphanet:90636 {source="OMIM:618257"} @@ -427330,8 +446167,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032641 name: mirror movements 4 +subset: gard_rare {source="GARD:16333"} synonym: "MIRROR MOVEMENTS 4" RELATED [OMIM:618264] synonym: "MRMV4" RELATED ABBREVIATION [OMIM:618264] +xref: GARD:16333 {source="OMIM:618264"} xref: OMIM:618264 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="OMIM:618264"} xref: UMLS:C4748869 {source="OMIM:618264"} @@ -427341,8 +446180,10 @@ is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movement [Term] id: MONDO:0032642 name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +subset: gard_rare {source="GARD:18001"} synonym: "ACCIID" RELATED ABBREVIATION [OMIM:618265] synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618265] +xref: GARD:18001 {source="Orphanet:565858"} xref: OMIM:618265 {source="MONDO:equivalentTo"} xref: Orphanet:565858 {source="MONDO:equivalentTo", source="OMIM:618265"} xref: UMLS:C4748872 {source="OMIM:618265"} @@ -427351,11 +446192,13 @@ is_a: MONDO:0003847 {source="OMIM:618265"} ! hereditary disease [Term] id: MONDO:0032643 name: pontocerebellar hypoplasia, type 12 +subset: gard_rare {source="GARD:18030"} subset: ordo_disorder synonym: "COASY-related pontocerebellar hypoplasia" EXACT [Orphanet:611256] synonym: "PCH12" EXACT ABBREVIATION [OMIM:618266, Orphanet:611256] synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 12" EXACT [OMIM:618266] xref: DOID:0112327 {source="MONDO:equivalentTo"} +xref: GARD:18030 {source="Orphanet:611256"} xref: OMIM:618266 {source="MONDO:equivalentTo"} xref: Orphanet:611256 {source="MONDO:equivalentTo"} xref: UMLS:C4748873 {source="OMIM:618266"} @@ -427365,9 +446208,11 @@ is_a: MONDO:0020135 {source="OMIM:618266"} ! pontocerebellar hypoplasia [Term] id: MONDO:0032644 name: epidermodysplasia verruciformis, susceptibility to, 3 +subset: gard_rare {source="GARD:16334"} synonym: "epidermodysplasia verruciformis 3" EXACT [OMIM:618267, OMIM:genemap2] synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3" RELATED [OMIM:618267] synonym: "EV3" RELATED ABBREVIATION [OMIM:618267] +xref: GARD:16334 {source="OMIM:618267"} xref: OMIM:618267 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618267"} xref: UMLS:C4748876 {source="OMIM:618267"} @@ -427417,9 +446262,11 @@ is_a: MONDO:0003847 {source="OMIM:618273"} ! hereditary disease [Term] id: MONDO:0032649 name: hypotrichosis 14 +subset: gard_rare {source="GARD:16335"} synonym: "HYPOTRICHOSIS 14" RELATED [OMIM:618275] synonym: "HYPT14" RELATED ABBREVIATION [OMIM:618275] xref: DOID:0080582 {source="MONDO:equivalentTo"} +xref: GARD:16335 {source="OMIM:618275"} xref: OMIM:618275 {source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:618275"} xref: UMLS:C4748930 {source="OMIM:618275"} @@ -427536,8 +446383,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032661 name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +subset: gard_rare {source="GARD:18515"} synonym: "NEDIDHA" RELATED ABBREVIATION [OMIM:618292] synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" RELATED [OMIM:618292] +xref: GARD:18515 {source="OMIM:618292"} xref: OMIM:618292 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618292"} xref: UMLS:C4749014 {source="OMIM:618292"} @@ -427560,12 +446409,14 @@ is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0032663 name: developmental and epileptic encephalopathy, 70 +subset: gard_rare {source="GARD:16336"} synonym: "DEE70" EXACT ABBREVIATION [OMIM:618298] synonym: "developmental and epileptic encephalopathy 70" EXACT [OMIM:618298, OMIM:genemap2] synonym: "EIEE70" EXACT ABBREVIATION [OMIM:618298] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70" EXACT [OMIM:618298] synonym: "epileptic encephalopathy, early infantile, 70" EXACT [OMIM:618298] xref: DOID:0112206 {source="MONDO:equivalentTo"} +xref: GARD:16336 {source="OMIM:618298"} xref: OMIM:618298 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:618298"} xref: UMLS:C4749023 {source="OMIM:618298"} @@ -427613,8 +446464,10 @@ relationship: predisposes_towards MONDO:0009176 {source="OMIM:618307"} ! epiderm [Term] id: MONDO:0032667 name: epidermodysplasia verruciformis, susceptibility to, 5 +subset: gard_rare {source="GARD:16337"} synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" RELATED [OMIM:618309] synonym: "EV5" RELATED ABBREVIATION [OMIM:618309] +xref: GARD:16337 {source="OMIM:618309"} xref: OMIM:618309 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618309"} xref: UMLS:C4749043 {source="OMIM:618309"} @@ -427625,9 +446478,11 @@ relationship: predisposes_towards MONDO:0009176 {source="OMIM:618309"} ! epiderm [Term] id: MONDO:0032668 name: Diamond-Blackfan anemia 18 +subset: gard_rare {source="GARD:16338"} synonym: "DBA18" RELATED ABBREVIATION [OMIM:618310] synonym: "DIAMOND-BLACKFAN ANEMIA 18" RELATED [OMIM:618310] xref: DOID:0111896 {source="MONDO:equivalentTo"} +xref: GARD:16338 {source="OMIM:618310"} xref: OMIM:618310 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618310"} xref: UMLS:C5193020 {source="OMIM:618310"} @@ -427637,9 +446492,11 @@ is_a: MONDO:0015253 {source="OMIM:618310"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032669 name: Diamond-Blackfan anemia 19 +subset: gard_rare {source="GARD:16339"} synonym: "DBA19" RELATED ABBREVIATION [OMIM:618312] synonym: "DIAMOND-BLACKFAN ANEMIA 19" RELATED [OMIM:618312] xref: DOID:0111886 {source="MONDO:equivalentTo"} +xref: GARD:16339 {source="OMIM:618312"} xref: OMIM:618312 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618312"} xref: UMLS:C5193021 {source="OMIM:618312"} @@ -427649,9 +446506,11 @@ is_a: MONDO:0015253 {source="OMIM:618312"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032670 name: Diamond-Blackfan anemia 20 +subset: gard_rare {source="GARD:16340"} synonym: "DBA20" RELATED ABBREVIATION [OMIM:618313] synonym: "DIAMOND-BLACKFAN ANEMIA 20" RELATED [OMIM:618313] xref: DOID:0111891 {source="MONDO:equivalentTo"} +xref: GARD:16340 {source="OMIM:618313"} xref: OMIM:618313 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618313"} xref: UMLS:C5193022 {source="OMIM:618313"} @@ -427661,8 +446520,10 @@ is_a: MONDO:0015253 {source="OMIM:618313"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032672 name: intellectual developmental disorder with cardiac defects and dysmorphic facies +subset: gard_rare {source="GARD:17998"} synonym: "IDDCDF" RELATED ABBREVIATION [OMIM:618316] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES" RELATED [OMIM:618316] +xref: GARD:17998 {source="Orphanet:562569"} xref: OMIM:618316 {source="MONDO:equivalentTo"} xref: Orphanet:562569 {source="OMIM:618316", source="MONDO:equivalentTo"} xref: UMLS:C5193024 {source="OMIM:618316"} @@ -427682,9 +446543,11 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] id: MONDO:0032675 name: myasthenic syndrome, congenital, 25, presynaptic +subset: gard_rare {source="GARD:16341"} synonym: "CMS25" RELATED ABBREVIATION [OMIM:618323] synonym: "myasthenic syndrome, congenital, 25" EXACT [OMIM:618323, OMIM:genemap2] synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC" RELATED [OMIM:618323] +xref: GARD:16341 {source="OMIM:618323"} xref: OMIM:618323 {source="MONDO:equivalentTo"} xref: Orphanet:98914 {source="OMIM:618323"} xref: UMLS:C5193027 {source="OMIM:618323"} @@ -427697,9 +446560,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032677 name: lissencephaly 9 with complex brainstem malformation +subset: gard_rare {source="GARD:18007"} synonym: "LIS9" RELATED ABBREVIATION [OMIM:618325] synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" RELATED [OMIM:618325] xref: DOID:0112228 {source="MONDO:equivalentTo"} +xref: GARD:18007 {source="Orphanet:572013"} xref: OMIM:618325 {source="MONDO:equivalentTo"} xref: Orphanet:572013 {source="MONDO:equivalentTo"} xref: UMLS:C5193029 {source="OMIM:618325"} @@ -427712,6 +446577,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032678 name: developmental and epileptic encephalopathy, 71 +subset: gard_rare {source="GARD:17994"} subset: mondo_rare {source="PMID:30575854"} subset: ordo_disease synonym: "DEE71" EXACT ABBREVIATION [OMIM:618328] @@ -427721,6 +446587,7 @@ synonym: "epileptic encephalopathy, early infantile, 71" EXACT [OMIM:618328] synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [OMIM:618328] synonym: "neonatal epileptic encephalopathy due to glutaminase deficiency" EXACT [MONDO:0034147] xref: DOID:0112207 {source="MONDO:equivalentTo"} +xref: GARD:17994 {source="Orphanet:557064"} xref: OMIM:618328 {source="MONDO:equivalentTo"} xref: Orphanet:557064 {source="MONDO:equivalentTo"} xref: UMLS:C5193030 {source="OMIM:618328"} @@ -427749,8 +446616,10 @@ is_a: MONDO:0003847 {source="OMIM:618329"} ! hereditary disease [Term] id: MONDO:0032680 name: global developmental delay with or without impaired intellectual development +subset: gard_rare {source="GARD:16477"} synonym: "GDDI" RELATED ABBREVIATION [OMIM:618330] synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618330] +xref: GARD:16477 {source="OMIM:618330"} xref: OMIM:618330 {source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:618330"} xref: UMLS:C5193032 {source="OMIM:618330"} @@ -427805,9 +446674,11 @@ is_a: MONDO:0004983 {source="OMIM:618341"} ! spermatogenic failure [Term] id: MONDO:0032687 name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +subset: gard_rare {source="GARD:18516"} synonym: "IDDABS" RELATED ABBREVIATION [OMIM:618342] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" RELATED [OMIM:618342] xref: DOID:0081265 {source="MONDO:equivalentTo"} +xref: GARD:18516 {source="OMIM:618342"} xref: OMIM:618342 {source="MONDO:equivalentTo"} xref: UMLS:C5193039 {source="OMIM:618342"} is_a: MONDO:0003847 {source="OMIM:618342"} ! hereditary disease @@ -427828,9 +446699,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032689 name: retinitis pigmentosa 85 +subset: gard_rare {source="GARD:16342"} synonym: "RETINITIS PIGMENTOSA 85" RELATED [OMIM:618345] synonym: "RP85" RELATED ABBREVIATION [OMIM:618345] xref: DOID:0112142 {source="MONDO:equivalentTo"} +xref: GARD:16342 {source="OMIM:618345"} xref: OMIM:618345 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618345"} xref: UMLS:C5193041 {source="OMIM:618345"} @@ -427850,8 +446723,10 @@ is_a: MONDO:0003847 {source="OMIM:618346"} ! hereditary disease [Term] id: MONDO:0032691 name: Galloway-Mowat syndrome 6 +subset: gard_rare {source="GARD:16343"} synonym: "GALLOWAY-MOWAT SYNDROME 6" RELATED [OMIM:618347] synonym: "GAMOS6" RELATED ABBREVIATION [OMIM:618347] +xref: GARD:16343 {source="OMIM:618347"} xref: OMIM:618347 {source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:618347"} xref: UMLS:C5193043 {source="OMIM:618347"} @@ -427861,8 +446736,10 @@ is_a: MONDO:0009627 {source="OMIM:618347"} ! Galloway-Mowat syndrome [Term] id: MONDO:0032692 name: Galloway-Mowat syndrome 7 +subset: gard_rare {source="GARD:16344"} synonym: "GALLOWAY-MOWAT SYNDROME 7" RELATED [OMIM:618348] synonym: "GAMOS7" RELATED ABBREVIATION [OMIM:618348] +xref: GARD:16344 {source="OMIM:618348"} xref: OMIM:618348 {source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:618348"} xref: UMLS:C5193044 {source="OMIM:618348"} @@ -427872,8 +446749,10 @@ is_a: MONDO:0009627 {source="OMIM:618348"} ! Galloway-Mowat syndrome [Term] id: MONDO:0032693 name: Galloway-Mowat syndrome 8 +subset: gard_rare {source="GARD:16345"} synonym: "GALLOWAY-MOWAT SYNDROME 8" RELATED [OMIM:618349] synonym: "GAMOS8" RELATED ABBREVIATION [OMIM:618349] +xref: GARD:16345 {source="OMIM:618349"} xref: OMIM:618349 {source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:618349"} xref: UMLS:C5193045 {source="OMIM:618349"} @@ -427883,8 +446762,10 @@ is_a: MONDO:0009627 {source="OMIM:618349"} ! Galloway-Mowat syndrome [Term] id: MONDO:0032694 name: microcephaly 25, primary, autosomal recessive +subset: gard_rare {source="GARD:16346"} synonym: "MCPH25" RELATED ABBREVIATION [OMIM:618351] synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618351] +xref: GARD:16346 {source="OMIM:618351"} xref: OMIM:618351 {source="MONDO:equivalentTo"} xref: UMLS:C5193046 {source="OMIM:618351"} is_a: MONDO:0003847 {source="OMIM:618351"} ! hereditary disease @@ -427942,10 +446823,12 @@ id: MONDO:0032702 name: Coffin-Siris syndrome 8 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene." [MONDO:patterns/OMIM_disease_series_by_gene] comment: Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 +subset: gard_rare {source="GARD:16347"} synonym: "COFFIN-SIRIS SYNDROME 8" RELATED [OMIM:618362] synonym: "CSS8" RELATED ABBREVIATION [OMIM:618362] synonym: "SMARCC2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0112367 {source="MONDO:equivalentTo"} +xref: GARD:16347 {source="OMIM:618362"} xref: OMIM:618362 {source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:618362"} xref: UMLS:C5193054 {source="OMIM:618362"} @@ -427971,10 +446854,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032705 name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +subset: gard_rare {source="GARD:18018"} subset: ordo_disease synonym: "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" EXACT [MONDO:0035369] synonym: "NEDMEHM" EXACT ABBREVIATION [OMIM:618367] synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION" EXACT [OMIM:618367] +xref: GARD:18018 {source="Orphanet:597874"} xref: OMIM:618367 {source="MONDO:equivalentTo"} xref: Orphanet:597874 {source="MONDO:equivalentTo"} xref: UMLS:C5193057 {source="OMIM:618367"} @@ -428035,8 +446920,10 @@ is_a: MONDO:0003847 {source="OMIM:618378"} ! hereditary disease [Term] id: MONDO:0032714 name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +subset: gard_rare {source="GARD:18019"} synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME" RELATED [OMIM:618381] synonym: "FHEIG" RELATED ABBREVIATION [OMIM:618381] +xref: GARD:18019 {source="Orphanet:598603"} xref: OMIM:618381 {source="MONDO:equivalentTo"} xref: Orphanet:598603 {source="MONDO:equivalentTo"} xref: UMLS:C5193066 {source="OMIM:618381"} @@ -428057,12 +446944,14 @@ is_a: MONDO:0019502 {source="OMIM:618383"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0032716 name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +subset: gard_rare {source="GARD:18035"} subset: ordo_disorder synonym: "acute reversible leukoencephalopathy due to SLC13A3 deficiency" EXACT [Orphanet:615964] synonym: "acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency" EXACT [Orphanet:615964] synonym: "acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" EXACT [Orphanet:615964] synonym: "ARLIAK" RELATED ABBREVIATION [OMIM:618384] synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE" RELATED [OMIM:618384] +xref: GARD:18035 {source="Orphanet:615964"} xref: OMIM:618384 {source="MONDO:equivalentTo"} xref: Orphanet:615964 {source="MONDO:equivalentTo"} xref: UMLS:C5193068 {source="OMIM:618384"} @@ -428110,10 +446999,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032724 name: spondyloepimetaphyseal dysplasia with joint laxity, type 3 +subset: gard_rare {source="GARD:16348"} synonym: "SEMDJL3" EXACT ABBREVIATION [DOID:0112200] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type" EXACT [Orphanet:642085] synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3" RELATED [OMIM:618395] xref: DOID:0112200 {source="MONDO:equivalentTo"} +xref: GARD:16348 {source="OMIM:618395"} xref: OMIM:618395 {source="MONDO:equivalentTo", source="DOID:0112200"} xref: Orphanet:642085 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="OMIM:618395"} @@ -428126,12 +447017,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032725 name: developmental and epileptic encephalopathy, 74 +subset: gard_rare {source="GARD:16349"} synonym: "DEE74" EXACT ABBREVIATION [OMIM:618396] synonym: "developmental and epileptic encephalopathy 74" EXACT [OMIM:618396, OMIM:genemap2] synonym: "EIEE74" EXACT ABBREVIATION [OMIM:618396] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74" EXACT [OMIM:618396] synonym: "epileptic encephalopathy, early infantile, 74" EXACT [OMIM:618396] xref: DOID:0112210 {source="MONDO:equivalentTo"} +xref: GARD:16349 {source="OMIM:618396"} xref: OMIM:618396 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618396"} xref: UMLS:C5193074 {source="OMIM:618396"} @@ -428142,9 +447035,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032726 name: combined oxidative phosphorylation deficiency 39 +subset: gard_rare {source="GARD:17999"} synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39" RELATED [OMIM:618397] synonym: "COXPD39" RELATED ABBREVIATION [OMIM:618397] xref: DOID:0111475 {source="MONDO:equivalentTo"} +xref: GARD:17999 {source="Orphanet:565624"} xref: OMIM:618397 {source="MONDO:equivalentTo"} xref: Orphanet:565624 {source="MONDO:equivalentTo", source="OMIM:618397"} xref: UMLS:C5193075 {source="OMIM:618397"} @@ -428166,10 +447061,12 @@ is_a: MONDO:0018993 {source="MONDO:cjm", source="OMIM:618400"} ! Charcot-Marie-T [Term] id: MONDO:0032729 name: intellectual developmental disorder, autosomal recessive 70 +subset: gard_rare {source="GARD:22580"} synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70" RELATED [OMIM:618402] synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [OMIM:618402] synonym: "MRT70" RELATED ABBREVIATION [OMIM:618402] xref: DOID:0081231 {source="MONDO:equivalentTo"} +xref: GARD:22580 {source="OMIM:618402"} xref: OMIM:618402 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618402"} xref: UMLS:C5193077 {source="OMIM:618402"} @@ -428190,9 +447087,11 @@ is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy [Term] id: MONDO:0032732 name: hearing loss, autosomal recessive 113 +subset: gard_rare {source="GARD:18152"} synonym: "deafness, autosomal recessive 113" NARROW [OMIM:618410, OMIM:genemap2] synonym: "DFNB113" NARROW ABBREVIATION [OMIM:618410] xref: DOID:0111636 {source="MONDO:equivalentTo"} +xref: GARD:18152 {source="OMIM:618410"} xref: OMIM:618410 {source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:618410"} xref: Orphanet:90636 {source="OMIM:618410"} @@ -428215,9 +447114,11 @@ is_a: MONDO:0003847 {source="OMIM:618412"} ! hereditary disease [Term] id: MONDO:0032735 name: cataract 48 +subset: gard_rare {source="GARD:16350"} synonym: "CATARACT 48" RELATED [OMIM:618415] synonym: "CTRCT48" RELATED ABBREVIATION [OMIM:618415] xref: DOID:0070354 {source="MONDO:equivalentTo"} +xref: GARD:16350 {source="OMIM:618415"} xref: OMIM:618415 {source="MONDO:equivalentTo"} xref: Orphanet:98994 {source="OMIM:618415"} xref: UMLS:C5193082 {source="OMIM:618415"} @@ -428277,9 +447178,11 @@ is_a: MONDO:0004983 {source="OMIM:618420"} ! spermatogenic failure [Term] id: MONDO:0032740 name: hearing loss, autosomal recessive 100 +subset: gard_rare {source="GARD:22660"} synonym: "deafness, autosomal recessive 100" NARROW [OMIM:618422, OMIM:genemap2] synonym: "DFNB100" NARROW ABBREVIATION [OMIM:618422] xref: DOID:0111638 {source="MONDO:equivalentTo"} +xref: GARD:22660 {source="OMIM:618422"} xref: OMIM:618422 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618422"} xref: UMLS:C5193087 {source="OMIM:618422"} @@ -428315,9 +447218,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032744 name: spermatogenic failure 37 +subset: gard_rare {source="GARD:18408"} synonym: "SPERMATOGENIC FAILURE 37" RELATED [OMIM:618429] synonym: "SPGF37" RELATED ABBREVIATION [OMIM:618429] xref: DOID:0111927 {source="MONDO:equivalentTo"} +xref: GARD:18408 {source="OMIM:618429"} xref: OMIM:618429 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618429"} xref: UMLS:C5193091 {source="OMIM:618429"} @@ -428327,9 +447232,11 @@ is_a: MONDO:0004983 {source="OMIM:618429"} ! spermatogenic failure [Term] id: MONDO:0032745 name: developmental delay with variable intellectual impairment and behavioral abnormalities +subset: gard_rare {source="GARD:18517"} synonym: "DDVIBA" RELATED ABBREVIATION [OMIM:618430] synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618430] synonym: "developmental delay with variable intellectual impairment and behavioral abnormalities" EXACT CLINGEN_PREFERRED [] +xref: GARD:18517 {source="OMIM:618430"} xref: OMIM:618430 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618430"} xref: UMLS:C5193092 {source="OMIM:618430"} @@ -428338,8 +447245,10 @@ is_a: MONDO:0003847 {source="OMIM:618430"} ! hereditary disease [Term] id: MONDO:0032746 name: hydatidiform mole, recurrent, 3 +subset: gard_rare {source="GARD:18367"} synonym: "HYDATIDIFORM MOLE, RECURRENT, 3" RELATED [OMIM:618431] synonym: "HYDM3" RELATED ABBREVIATION [OMIM:618431] +xref: GARD:18367 {source="OMIM:618431"} xref: OMIM:618431 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="OMIM:618431"} xref: UMLS:C5193093 {source="OMIM:618431"} @@ -428349,8 +447258,10 @@ is_a: MONDO:0006248 {source="OMIM:618431"} ! hydatidiform mole [Term] id: MONDO:0032747 name: hydatidiform mole, recurrent, 4 +subset: gard_rare {source="GARD:18368"} synonym: "HYDATIDIFORM MOLE, RECURRENT, 4" RELATED [OMIM:618432] synonym: "HYDM4" RELATED ABBREVIATION [OMIM:618432] +xref: GARD:18368 {source="OMIM:618432"} xref: OMIM:618432 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="OMIM:618432"} xref: UMLS:C5193094 {source="OMIM:618432"} @@ -428360,9 +447271,11 @@ is_a: MONDO:0006248 {source="OMIM:618432"} ! hydatidiform mole [Term] id: MONDO:0032748 name: spermatogenic failure 38 +subset: gard_rare {source="GARD:18409"} synonym: "SPERMATOGENIC FAILURE 38" RELATED [OMIM:618433] synonym: "SPGF38" RELATED ABBREVIATION [OMIM:618433] xref: DOID:0111919 {source="MONDO:equivalentTo"} +xref: GARD:18409 {source="OMIM:618433"} xref: OMIM:618433 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618433"} xref: UMLS:C5193095 {source="OMIM:618433"} @@ -428372,9 +447285,11 @@ is_a: MONDO:0004983 {source="OMIM:618433"} ! spermatogenic failure [Term] id: MONDO:0032749 name: hearing loss, autosomal recessive 94 +subset: gard_rare {source="GARD:22661"} synonym: "deafness, autosomal recessive 94" NARROW [OMIM:618434, OMIM:genemap2] synonym: "DFNB94" NARROW ABBREVIATION [OMIM:618434] xref: DOID:0111641 {source="MONDO:equivalentTo"} +xref: GARD:22661 {source="OMIM:618434"} xref: OMIM:618434 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618434"} xref: UMLS:C5193096 {source="OMIM:618434"} @@ -428386,9 +447301,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032750 name: arthrogryposis, distal, type 2B2 +subset: gard_rare {source="GARD:16351"} synonym: "arthrogryposis, distal, type 2B2" EXACT [OMIM:618435] synonym: "DA2B2" EXACT ABBREVIATION [DOID:0111600, OMIM:618435] xref: DOID:0111601 {source="MONDO:equivalentTo"} +xref: GARD:16351 {source="OMIM:618435"} xref: OMIM:618435 {source="DOID:0111601", source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="OMIM:618435"} xref: UMLS:C5193097 {source="OMIM:618435"} @@ -428419,12 +447336,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032752 name: developmental and epileptic encephalopathy, 75 +subset: gard_rare {source="GARD:16352"} synonym: "DEE75" EXACT ABBREVIATION [OMIM:618437] synonym: "developmental and epileptic encephalopathy 75" EXACT [OMIM:618437, OMIM:genemap2] synonym: "EIEE75" EXACT ABBREVIATION [OMIM:618437] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75" EXACT [OMIM:618437] synonym: "epileptic encephalopathy, early infantile, 75" EXACT [OMIM:618437] xref: DOID:0112211 {source="MONDO:equivalentTo"} +xref: GARD:16352 {source="OMIM:618437"} xref: OMIM:618437 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618437"} xref: UMLS:C5193099 {source="OMIM:618437"} @@ -428468,9 +447387,11 @@ is_a: MONDO:0019171 {source="OMIM:618447"} ! familial long QT syndrome [Term] id: MONDO:0032757 name: ciliary dyskinesia, primary, 41 +subset: gard_rare {source="GARD:16353"} synonym: "CILD41" RELATED ABBREVIATION [OMIM:618449] synonym: "CILIARY DYSKINESIA, PRIMARY, 41" RELATED [OMIM:618449] xref: DOID:0111858 {source="MONDO:equivalentTo"} +xref: GARD:16353 {source="OMIM:618449"} xref: OMIM:618449 {source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:618449"} xref: UMLS:C5193103 {source="OMIM:618449"} @@ -428507,9 +447428,11 @@ is_a: MONDO:0003847 {source="OMIM:618454"} ! hereditary disease [Term] id: MONDO:0032761 name: hearing loss, autosomal recessive 114 +subset: gard_rare {source="GARD:22662"} synonym: "deafness, autosomal recessive 114" NARROW [OMIM:618456, OMIM:genemap2] synonym: "DFNB114" NARROW ABBREVIATION [OMIM:618456] xref: DOID:0111642 {source="MONDO:equivalentTo"} +xref: GARD:22662 {source="OMIM:618456"} xref: OMIM:618456 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618456"} xref: UMLS:C5193107 {source="OMIM:618456"} @@ -428581,8 +447504,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032767 name: paragangliomas 6 +subset: gard_rare {source="GARD:16354"} synonym: "PARAGANGLIOMAS 6" RELATED [OMIM:618464] synonym: "PGL6" RELATED ABBREVIATION [OMIM:618464] +xref: GARD:16354 {source="OMIM:618464"} xref: OMIM:618464 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:618464"} xref: UMLS:C5193112 {source="OMIM:618464"} @@ -428592,6 +447517,7 @@ is_a: MONDO:0003847 {source="OMIM:618464"} ! hereditary disease [Term] id: MONDO:0032768 name: developmental and epileptic encephalopathy, 76 +subset: gard_rare {source="GARD:16355"} synonym: "DEE76" EXACT ABBREVIATION [OMIM:618468] synonym: "developmental and epileptic encephalopathy 76" EXACT [OMIM:618468, OMIM:genemap2] synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468] @@ -428599,6 +447525,7 @@ synonym: "EIEE76" EXACT ABBREVIATION [OMIM:618468] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76" EXACT [OMIM:618468] synonym: "epileptic encephalopathy, early infantile, 76" EXACT [OMIM:618468] xref: DOID:0112212 {source="MONDO:equivalentTo"} +xref: GARD:16355 {source="OMIM:618468"} xref: OMIM:618468 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618468"} xref: UMLS:C5193113 {source="OMIM:618468"} @@ -428610,9 +447537,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032770 name: intellectual developmental disorder with severe speech and ambulation defects def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808] +subset: gard_rare {source="GARD:18518"} synonym: "ACTL6B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "IDDSSAD" RELATED ABBREVIATION [OMIM:618470] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS" RELATED [OMIM:618470] +xref: GARD:18518 {source="OMIM:618470"} xref: OMIM:618470 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618470"} xref: UMLS:C5193115 {source="OMIM:618470"} @@ -428624,8 +447553,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032771 name: paragangliomas 7 +subset: gard_rare {source="GARD:16356"} synonym: "PARAGANGLIOMAS 7" RELATED [OMIM:618475] synonym: "PGL7" RELATED ABBREVIATION [OMIM:618475] +xref: GARD:16356 {source="OMIM:618475"} xref: OMIM:618475 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:618475"} xref: UMLS:C5193116 {source="OMIM:618475"} @@ -428678,9 +447609,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032776 name: hearing loss, autosomal recessive 99 +subset: gard_rare {source="GARD:22663"} synonym: "deafness, autosomal recessive 99" NARROW [OMIM:618481, OMIM:genemap2] synonym: "DFNB99" NARROW ABBREVIATION [OMIM:618481] xref: DOID:0111634 {source="MONDO:equivalentTo"} +xref: GARD:22663 {source="OMIM:618481"} xref: OMIM:618481 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618481"} xref: UMLS:C4760579 {source="OMIM:618481"} @@ -428692,10 +447625,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032777 name: generalized epilepsy with febrile seizures plus, type 10 +subset: gard_rare {source="GARD:18671"} synonym: "Gefs+, Type 10" RELATED [OMIM:618482] synonym: "GEFSP10" RELATED ABBREVIATION [OMIM:618482] synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10" RELATED [OMIM:618482] xref: DOID:0111296 {source="MONDO:equivalentTo"} +xref: GARD:18671 {source="OMIM:618482"} xref: OMIM:618482 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:618482"} xref: UMLS:C5193120 {source="OMIM:618482"} @@ -428786,8 +447721,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032785 name: polydactyly, postaxial, type a10 +subset: gard_rare {source="GARD:18178"} synonym: "PAPA10" RELATED ABBREVIATION [OMIM:618498] synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10" RELATED [OMIM:618498] +xref: GARD:18178 {source="OMIM:618498"} xref: OMIM:618498 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:618498"} xref: UMLS:C5193129 {source="OMIM:618498"} @@ -428797,9 +447734,11 @@ is_a: MONDO:0020927 {source="OMIM:618498"} ! postaxial polydactyly [Term] id: MONDO:0032786 name: Noonan syndrome 11 +subset: gard_rare {source="GARD:16357"} synonym: "NOONAN SYNDROME 11" RELATED [OMIM:618499] synonym: "NS11" RELATED ABBREVIATION [OMIM:618499] xref: DOID:0112169 {source="MONDO:equivalentTo"} +xref: GARD:16357 {source="OMIM:618499"} xref: NCIT:C177119 {source="MONDO:equivalentTo"} xref: OMIM:618499 {source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:618499"} @@ -428854,9 +447793,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032791 name: Coffin-Siris syndrome 10 +subset: gard_rare {source="GARD:16358"} synonym: "COFFIN-SIRIS SYNDROME 10" RELATED [OMIM:618506] synonym: "CSS10" RELATED ABBREVIATION [OMIM:618506] xref: DOID:0112371 {source="MONDO:equivalentTo"} +xref: GARD:16358 {source="OMIM:618506"} xref: OMIM:618506 {source="MONDO:equivalentTo"} xref: UMLS:C4760583 {source="OMIM:618506"} is_a: MONDO:0003847 {source="OMIM:618506"} ! hereditary disease @@ -428890,9 +447831,11 @@ is_a: MONDO:0003847 {source="OMIM:618512"} ! hereditary disease [Term] id: MONDO:0032794 name: leber congenital amaurosis 19 +subset: gard_rare {source="GARD:16359"} synonym: "LCA19" RELATED ABBREVIATION [OMIM:618513] synonym: "LEBER CONGENITAL AMAUROSIS 19" RELATED [OMIM:618513] xref: DOID:0081169 {source="MONDO:equivalentTo"} +xref: GARD:16359 {source="OMIM:618513"} xref: OMIM:618513 {source="MONDO:equivalentTo"} xref: Orphanet:65 {source="OMIM:618513"} xref: UMLS:C5193139 {source="OMIM:618513"} @@ -428972,9 +447915,11 @@ is_a: MONDO:0019978 {source="OMIM:618529"} ! Robinow syndrome [Term] id: MONDO:0032801 name: erythrokeratodermia variabilis et progressiva 6 +subset: gard_rare {source="GARD:18672"} synonym: "EKVP6" RELATED ABBREVIATION [OMIM:618531] synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" RELATED [OMIM:618531] xref: DOID:0080766 {source="MONDO:equivalentTo"} +xref: GARD:18672 {source="OMIM:618531"} xref: OMIM:618531 {source="MONDO:equivalentTo"} xref: Orphanet:316 {source="OMIM:618531"} xref: UMLS:C5193144 {source="OMIM:618531"} @@ -428997,9 +447942,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032803 name: immunodeficiency 64 +subset: gard_rare {source="GARD:16360"} synonym: "IMD64" RELATED ABBREVIATION [OMIM:618534] synonym: "IMMUNODEFICIENCY 64" RELATED [OMIM:618534] xref: DOID:0111980 {source="MONDO:equivalentTo"} +xref: GARD:16360 {source="OMIM:618534"} xref: OMIM:618534 {source="MONDO:equivalentTo"} xref: Orphanet:3261 {source="OMIM:618534"} is_a: MONDO:0003847 {source="OMIM:618534"} ! hereditary disease @@ -429008,9 +447955,11 @@ is_a: MONDO:0021094 {source="OMIM:618534"} ! immunodeficiency disease [Term] id: MONDO:0032804 name: ectodermal dysplasia 15, hypohidrotic/hair type +subset: gard_rare {source="GARD:16361"} synonym: "ECTD15" RELATED ABBREVIATION [OMIM:618535] synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" RELATED [OMIM:618535] xref: DOID:0111651 {source="MONDO:equivalentTo"} +xref: GARD:16361 {source="OMIM:618535"} xref: OMIM:618535 {source="MONDO:equivalentTo"} xref: Orphanet:248 {source="OMIM:618535"} xref: UMLS:C5193145 {source="OMIM:618535"} @@ -429028,9 +447977,11 @@ is_a: MONDO:0003847 {source="OMIM:618541"} ! hereditary disease [Term] id: MONDO:0032806 name: trichothiodystrophy 7, nonphotosensitive +subset: gard_rare {source="GARD:16362"} synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE" RELATED [OMIM:618546] synonym: "TTD7" RELATED ABBREVIATION [OMIM:618546] xref: DOID:0111870 {source="MONDO:equivalentTo"} +xref: GARD:16362 {source="OMIM:618546"} xref: NCIT:C173102 {source="MONDO:equivalentTo"} xref: OMIM:618546 {source="MONDO:equivalentTo"} xref: Orphanet:33364 {source="OMIM:618546"} @@ -429050,12 +448001,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032808 name: developmental and epileptic encephalopathy, 77 +subset: gard_rare {source="GARD:16363"} synonym: "DEE77" EXACT ABBREVIATION [OMIM:618548] synonym: "EIEE77" EXACT ABBREVIATION [OMIM:618548] synonym: "epileptic encephalopathy, early infantile, 77" EXACT [OMIM:618548] synonym: "glycosylphosphatidylinositol biosynthesis defect 19" RELATED [OMIM:618548] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 4" EXACT [OMIM:618548] xref: DOID:0112213 {source="MONDO:equivalentTo"} +xref: GARD:16363 {source="OMIM:618548"} xref: OMIM:618548 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:618548"} is_a: MONDO:0003847 {source="OMIM:618548"} ! hereditary disease @@ -429087,9 +448040,11 @@ is_a: MONDO:0014769 {source="OMIM:618550"} ! inherited oocyte maturation defect [Term] id: MONDO:0032811 name: night blindness, congenital stationary, type1i +subset: gard_rare {source="GARD:16364"} synonym: "CSNB1I" EXACT ABBREVIATION [OMIM:618555] synonym: "night blindness, congenital stationary, type 1I" EXACT [OMIM:618555, OMIM:genemap2] synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I" EXACT [OMIM:618555] +xref: GARD:16364 {source="OMIM:618555"} xref: OMIM:618555 {source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:618555"} is_a: MONDO:0003847 {source="OMIM:618555"} ! hereditary disease @@ -429102,12 +448057,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032812 name: developmental and epileptic encephalopathy, 78 +subset: gard_rare {source="GARD:16365"} synonym: "DEE78" EXACT ABBREVIATION [OMIM:618557] synonym: "developmental and epileptic encephalopathy 78" EXACT [OMIM:618557, OMIM:genemap2] synonym: "EIEE78" EXACT ABBREVIATION [OMIM:618557] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78" EXACT [OMIM:618557] synonym: "epileptic encephalopathy, early infantile, 78" EXACT [OMIM:618557] xref: DOID:0112214 {source="MONDO:equivalentTo"} +xref: GARD:16365 {source="OMIM:618557"} xref: OMIM:618557 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618557"} is_a: MONDO:0003847 {source="OMIM:618557"} ! hereditary disease @@ -429117,12 +448074,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032813 name: developmental and epileptic encephalopathy, 79 +subset: gard_rare {source="GARD:16366"} synonym: "DEE79" EXACT ABBREVIATION [OMIM:618559] synonym: "developmental and epileptic encephalopathy 79" EXACT [OMIM:618559, OMIM:genemap2] synonym: "EIEE79" EXACT ABBREVIATION [OMIM:618559] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79" EXACT [OMIM:618559] synonym: "epileptic encephalopathy, early infantile, 79" EXACT [OMIM:618559] xref: DOID:0112215 {source="MONDO:equivalentTo"} +xref: GARD:16366 {source="OMIM:618559"} xref: OMIM:618559 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618559"} is_a: MONDO:0003847 {source="OMIM:618559"} ! hereditary disease @@ -429132,11 +448091,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032814 name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant +subset: gard_rare {source="GARD:17855"} subset: ordo_disease {source="Orphanet:477749"} synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [OMIM:618564] synonym: "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT" EXACT [OMIM:618564] synonym: "PADMAL" EXACT ABBREVIATION [OMIM:618564, Orphanet:477749] synonym: "pontine autosomal dominant microangiopathy with leukoencephalopathy" EXACT [MONDO:0018786] +xref: GARD:17855 {source="Orphanet:477749"} xref: OMIM:618564 {source="MONDO:equivalentTo"} xref: Orphanet:477749 {source="MONDO:equivalentTo", source="OMIM:618564"} is_a: MONDO:0003847 {source="OMIM:618564"} ! hereditary disease @@ -429155,8 +448116,10 @@ is_a: MONDO:0018158 {source="OMIM:618567"} ! mitochondrial DNA depletion syndrom [Term] id: MONDO:0032816 name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +subset: gard_rare {source="GARD:18519"} synonym: "NEDAHM" RELATED ABBREVIATION [OMIM:618569] synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" RELATED [OMIM:618569] +xref: GARD:18519 {source="OMIM:618569"} xref: OMIM:618569 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618569"} is_a: MONDO:0003847 {source="OMIM:618569"} ! hereditary disease @@ -429187,6 +448150,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032819 name: hypothyroidism, congenital, nongoitrous, 7 +subset: gard_rare {source="GARD:16914"} subset: ordo_disease {source="Orphanet:99832"} synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [Orphanet:99832] synonym: "CHNG7" RELATED ABBREVIATION [OMIM:618573] @@ -429197,6 +448161,7 @@ synonym: "thyrotropin-releasing hormone resistance, generalised" RELATED OMO:000 synonym: "thyrotropin-releasing hormone resistance, generalized" RELATED [OMIM:618573] synonym: "TRH resistance syndrome" EXACT [Orphanet:99832] xref: DOID:0111836 {source="MONDO:equivalentTo"} +xref: GARD:16914 {source="Orphanet:99832"} xref: ICD10CM:E03.1 {source="Orphanet:99832", source="Orphanet:99832/attributed", source="Orphanet:99832/ntbt"} xref: OMIM:618573 {source="MONDO:equivalentTo"} xref: Orphanet:99832 {source="MONDO:equivalentTo", source="OMIM:618573"} @@ -429249,9 +448214,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032823 name: intellectual developmental disorder 60 with seizures +subset: gard_rare {source="GARD:16367"} synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES" RELATED [OMIM:618587] synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [OMIM:618587] synonym: "MRD60" RELATED ABBREVIATION [OMIM:618587] +xref: GARD:16367 {source="OMIM:618587"} xref: OMIM:618587 {source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="OMIM:618587"} is_a: MONDO:0003847 {source="OMIM:618587"} ! hereditary disease @@ -429318,10 +448285,12 @@ is_a: MONDO:0003847 {source="OMIM:618604"} ! hereditary disease [Term] id: MONDO:0032831 name: pontocerebellar hypoplasia, type 13 +subset: gard_rare {source="GARD:18031"} subset: ordo_disorder synonym: "PCH13" EXACT ABBREVIATION [OMIM:618606, Orphanet:613267] synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 13" EXACT [OMIM:618606] xref: DOID:0112332 {source="MONDO:equivalentTo"} +xref: GARD:18031 {source="Orphanet:613267"} xref: OMIM:618606 {source="MONDO:equivalentTo"} xref: Orphanet:613267 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618606"} ! hereditary disease @@ -429350,9 +448319,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032834 name: retinitis pigmentosa 86 +subset: gard_rare {source="GARD:16368"} synonym: "RETINITIS PIGMENTOSA 86" RELATED [OMIM:618613] synonym: "RP86" RELATED ABBREVIATION [OMIM:618613] xref: DOID:0112143 {source="MONDO:equivalentTo"} +xref: GARD:16368 {source="OMIM:618613"} xref: OMIM:618613 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618613"} is_a: MONDO:0003847 {source="OMIM:618613"} ! hereditary disease @@ -429401,9 +448372,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032839 name: noonan syndrome 12 +subset: gard_rare {source="GARD:16369"} synonym: "NOONAN SYNDROME 12" RELATED [OMIM:618624] synonym: "NS12" RELATED ABBREVIATION [OMIM:618624] xref: DOID:0112170 {source="MONDO:equivalentTo"} +xref: GARD:16369 {source="OMIM:618624"} xref: NCIT:C177120 {source="MONDO:equivalentTo"} xref: OMIM:618624 {source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:618624"} @@ -429413,8 +448386,10 @@ is_a: MONDO:0018997 {source="OMIM:618624"} ! Noonan syndrome [Term] id: MONDO:0032841 name: Usher syndrome, type 1M +subset: gard_rare {source="GARD:16370"} synonym: "USH1M" RELATED ABBREVIATION [OMIM:618632] synonym: "USHER SYNDROME, TYPE 1M" RELATED [OMIM:618632] +xref: GARD:16370 {source="OMIM:618632"} xref: OMIM:618632 {source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:618632"} is_a: MONDO:0003847 {source="OMIM:618632"} ! hereditary disease @@ -429441,8 +448416,10 @@ is_a: MONDO:0003847 {source="OMIM:618637"} ! hereditary disease [Term] id: MONDO:0032844 name: infantile liver failure syndrome 3 +subset: gard_rare {source="GARD:16483"} synonym: "ILFS3" RELATED ABBREVIATION [OMIM:618641] synonym: "INFANTILE LIVER FAILURE SYNDROME 3" RELATED [OMIM:618641] +xref: GARD:16483 {source="OMIM:618641"} xref: OMIM:618641 {source="MONDO:equivalentTo"} xref: Orphanet:464724 {source="OMIM:618641"} is_a: MONDO:0000023 {source="OMIM:618641"} ! infantile liver failure @@ -429451,9 +448428,11 @@ is_a: MONDO:0003847 {source="OMIM:618641"} ! hereditary disease [Term] id: MONDO:0032845 name: spermatogenic failure 39 +subset: gard_rare {source="GARD:18410"} synonym: "SPERMATOGENIC FAILURE 39" RELATED [OMIM:618643] synonym: "SPGF39" RELATED ABBREVIATION [OMIM:618643] xref: DOID:0111926 {source="MONDO:equivalentTo"} +xref: GARD:18410 {source="OMIM:618643"} xref: OMIM:618643 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618643"} is_a: MONDO:0003847 {source="OMIM:618643"} ! hereditary disease @@ -429503,8 +448482,10 @@ is_a: MONDO:0003847 {source="OMIM:618652"} ! hereditary disease [Term] id: MONDO:0032851 name: intellectual developmental disorder with impaired language and dysmorphic facies +subset: gard_rare {source="GARD:18520"} synonym: "IDDILF" RELATED ABBREVIATION [OMIM:618653] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES" RELATED [OMIM:618653] +xref: GARD:18520 {source="OMIM:618653"} xref: OMIM:618653 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618653"} is_a: MONDO:0003847 {source="OMIM:618653"} ! hereditary disease @@ -429537,8 +448518,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032854 name: zimmermann-laband syndrome 3 +subset: gard_rare {source="GARD:16371"} synonym: "ZIMMERMANN-LABAND SYNDROME 3" RELATED [OMIM:618658] synonym: "ZLS3" RELATED ABBREVIATION [OMIM:618658] +xref: GARD:16371 {source="OMIM:618658"} xref: OMIM:618658 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="OMIM:618658"} is_a: MONDO:0000200 {source="OMIM:618658"} ! Zimmermann-Laband syndrome @@ -429547,8 +448530,10 @@ is_a: MONDO:0003847 {source="OMIM:618658"} ! hereditary disease [Term] id: MONDO:0032855 name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +subset: gard_rare {source="GARD:18521"} synonym: "NEDDFSA" RELATED ABBREVIATION [OMIM:618659] synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES" RELATED [OMIM:618659] +xref: GARD:18521 {source="OMIM:618659"} xref: OMIM:618659 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618659"} is_a: MONDO:0003847 {source="OMIM:618659"} ! hereditary disease @@ -429584,9 +448569,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032859 name: spermatogenic failure 40 +subset: gard_rare {source="GARD:18411"} synonym: "SPERMATOGENIC FAILURE 40" RELATED [OMIM:618664] synonym: "SPGF40" RELATED ABBREVIATION [OMIM:618664] xref: DOID:0111918 {source="MONDO:equivalentTo"} +xref: GARD:18411 {source="OMIM:618664"} xref: OMIM:618664 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618664"} is_a: MONDO:0003847 {source="OMIM:618664"} ! hereditary disease @@ -429606,8 +448593,10 @@ is_a: MONDO:0019502 {source="OMIM:618665"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0032862 name: hydrocephalus, congenital communicating, 1 +subset: gard_rare {source="GARD:18090"} synonym: "HYDCC1" RELATED ABBREVIATION [OMIM:618667] synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1" RELATED [OMIM:618667] +xref: GARD:18090 {source="OMIM:618667"} xref: OMIM:618667 {source="MONDO:equivalentTo"} xref: Orphanet:90030 {source="OMIM:618667"} is_a: MONDO:0003847 {source="OMIM:618667"} ! hereditary disease @@ -429617,9 +448606,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032863 name: spermatogenic failure 41 +subset: gard_rare {source="GARD:18412"} synonym: "SPERMATOGENIC FAILURE 41" RELATED [OMIM:618670] synonym: "SPGF41" RELATED ABBREVIATION [OMIM:618670] xref: DOID:0111912 {source="MONDO:equivalentTo"} +xref: GARD:18412 {source="OMIM:618670"} xref: OMIM:618670 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618670"} is_a: MONDO:0003847 {source="OMIM:618670"} ! hereditary disease @@ -429672,9 +448663,11 @@ is_a: MONDO:0003847 {source="OMIM:618681"} ! hereditary disease [Term] id: MONDO:0032869 name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 +subset: gard_rare {source="GARD:18673"} synonym: "MC5DN6" RELATED ABBREVIATION [OMIM:618683] synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618683] xref: DOID:0111749 {source="MONDO:equivalentTo"} +xref: GARD:18673 {source="OMIM:618683"} xref: OMIM:618683 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="OMIM:618683"} is_a: MONDO:0003847 {source="OMIM:618683"} ! hereditary disease @@ -429683,9 +448676,11 @@ is_a: MONDO:0014471 {source="OMIM:618683"} ! mitochondrial proton-transporting A [Term] id: MONDO:0032870 name: intellectual developmental disorder with short stature and behavioral abnormalities +subset: gard_rare {source="GARD:22581"} synonym: "IDDSSBA" RELATED ABBREVIATION [OMIM:618687] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618687] xref: DOID:0111674 {source="MONDO:equivalentTo"} +xref: GARD:22581 {source="OMIM:618687"} xref: OMIM:618687 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618687"} is_a: MONDO:0003847 {source="OMIM:618687"} ! hereditary disease @@ -429703,10 +448698,12 @@ is_a: MONDO:0019046 {source="OMIM:618688"} ! leukodystrophy [Term] id: MONDO:0032872 name: ciliary dyskinesia, primary, 42 +subset: gard_rare {source="GARD:16373"} synonym: "CILD42" RELATED ABBREVIATION [OMIM:618695] synonym: "CILIARY DYSKINESIA, PRIMARY, 42" RELATED [OMIM:618695] synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [OMIM:618695] xref: DOID:0111855 {source="MONDO:equivalentTo"} +xref: GARD:16373 {source="OMIM:618695"} xref: OMIM:618695 {source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:618695"} is_a: MONDO:0003847 {source="OMIM:618695"} ! hereditary disease @@ -429715,8 +448712,10 @@ is_a: MONDO:0016575 {source="OMIM:618695"} ! primary ciliary dyskinesia [Term] id: MONDO:0032873 name: retinitis pigmentosa 87 with choroidal involvement +subset: gard_rare {source="GARD:16374"} synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT" RELATED [OMIM:618697] synonym: "RP87" RELATED ABBREVIATION [OMIM:618697] +xref: GARD:16374 {source="OMIM:618697"} xref: OMIM:618697 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618697"} is_a: MONDO:0003847 {source="OMIM:618697"} ! hereditary disease @@ -429804,9 +448803,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032881 name: premature ovarian failure 16 +subset: gard_rare {source="GARD:18044"} synonym: "POF16" RELATED ABBREVIATION [OMIM:618723] synonym: "PREMATURE OVARIAN FAILURE 16" RELATED [OMIM:618723] xref: DOID:0080873 {source="MONDO:equivalentTo"} +xref: GARD:18044 {source="OMIM:618723"} xref: OMIM:618723 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:618723"} is_a: MONDO:0003847 {source="OMIM:618723"} ! hereditary disease @@ -429897,9 +448898,11 @@ is_a: MONDO:0003847 {source="OMIM:618733"} ! hereditary disease [Term] id: MONDO:0032891 name: aneurysm, intracranial berry, 12 +subset: gard_rare {source="GARD:18330"} synonym: "ANEURYSM, INTRACRANIAL BERRY, 12" RELATED [OMIM:618734] synonym: "ANIB12" RELATED ABBREVIATION [OMIM:618734] xref: DOID:0080975 {source="MONDO:equivalentTo"} +xref: GARD:18330 {source="OMIM:618734"} xref: OMIM:618734 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618734"} ! hereditary disease is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm @@ -429949,9 +448952,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032896 name: spermatogenic failure 42 +subset: gard_rare {source="GARD:18413"} synonym: "SPERMATOGENIC FAILURE 42" RELATED [OMIM:618745] synonym: "SPGF42" RELATED ABBREVIATION [OMIM:618745] xref: DOID:0111923 {source="MONDO:equivalentTo"} +xref: GARD:18413 {source="OMIM:618745"} xref: OMIM:618745 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618745"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:618745"} ! spermatogenic failure @@ -429967,9 +448972,11 @@ is_a: MONDO:0003847 {source="OMIM:618748"} ! hereditary disease [Term] id: MONDO:0032898 name: spermatogenic failure 43 +subset: gard_rare {source="GARD:18414"} synonym: "SPERMATOGENIC FAILURE 43" RELATED [OMIM:618751] synonym: "SPGF43" RELATED ABBREVIATION [OMIM:618751] xref: DOID:0111917 {source="MONDO:equivalentTo"} +xref: GARD:18414 {source="OMIM:618751"} xref: OMIM:618751 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618751"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:618751"} ! spermatogenic failure @@ -429977,11 +448984,13 @@ is_a: MONDO:0004983 {source="OMIM:618751"} ! spermatogenic failure [Term] id: MONDO:0032899 name: neutropenia, severe congenital, 8, autosomal dominant +subset: gard_rare {source="GARD:16375"} synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT" RELATED [OMIM:618752] synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752] synonym: "SCN8" RELATED ABBREVIATION [OMIM:618752] synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752] xref: DOID:0112135 {source="MONDO:equivalentTo"} +xref: GARD:16375 {source="OMIM:618752"} xref: OMIM:618752 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618752"} ! hereditary disease is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia @@ -430008,8 +449017,10 @@ is_a: MONDO:0003847 {source="OMIM:618761"} ! hereditary disease [Term] id: MONDO:0032902 name: Joubert syndrome 36 +subset: gard_rare {source="GARD:16376"} synonym: "JBTS36" RELATED ABBREVIATION [OMIM:618763] synonym: "JOUBERT SYNDROME 36" RELATED [OMIM:618763] +xref: GARD:16376 {source="OMIM:618763"} xref: OMIM:618763 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618763"} ! hereditary disease is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome @@ -430085,8 +449096,10 @@ is_a: MONDO:0003847 {source="OMIM:618774"} ! hereditary disease [Term] id: MONDO:0032909 name: mitochondrial complex 3 deficiency, nuclear type 10 +subset: gard_rare {source="GARD:16377"} synonym: "MC3DN10" RELATED ABBREVIATION [OMIM:618775] synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618775] +xref: GARD:16377 {source="OMIM:618775"} xref: OMIM:618775 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618775"} ! hereditary disease is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type @@ -430094,9 +449107,11 @@ is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficienc [Term] id: MONDO:0032910 name: mitochondrial complex 1 deficiency, nuclear type 34 +subset: gard_rare {source="GARD:16378"} synonym: "MC1DN34" RELATED ABBREVIATION [OMIM:618776] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34" RELATED [OMIM:618776] xref: DOID:0112091 {source="MONDO:equivalentTo"} +xref: GARD:16378 {source="OMIM:618776"} xref: OMIM:618776 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type @@ -430106,10 +449121,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0032911 name: hearing loss, autosomal dominant 75 +subset: gard_rare {source="GARD:18153"} synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [OMIM:618778] synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778, OMIM:genemap2] synonym: "DFNA75" NARROW ABBREVIATION [OMIM:618778] xref: DOID:0112166 {source="MONDO:equivalentTo"} +xref: GARD:18153 {source="OMIM:618778"} xref: OMIM:618778 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618778"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic hearing loss @@ -430119,9 +449136,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032912 name: Coffin-Siris syndrome 11 +subset: gard_rare {source="GARD:16379"} synonym: "COFFIN-SIRIS SYNDROME 11" RELATED [OMIM:618779] synonym: "CSS11" RELATED ABBREVIATION [OMIM:618779] xref: DOID:0112372 {source="MONDO:equivalentTo"} +xref: GARD:16379 {source="OMIM:618779"} xref: OMIM:618779 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618779"} ! hereditary disease is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome @@ -430139,10 +449158,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032914 name: ciliary dyskinesia, primary, 44 +subset: gard_rare {source="GARD:16380"} synonym: "CILD44" RELATED ABBREVIATION [OMIM:618781] synonym: "CILIARY DYSKINESIA, PRIMARY, 44" RELATED [OMIM:618781] synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781] xref: DOID:0111851 {source="MONDO:equivalentTo"} +xref: GARD:16380 {source="OMIM:618781"} xref: OMIM:618781 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618781"} ! hereditary disease is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia @@ -430161,18 +449182,22 @@ is_a: MONDO:0019171 {source="OMIM:618782"} ! familial long QT syndrome [Term] id: MONDO:0032916 name: Imagawa-Matsumoto syndrome +subset: gard_rare {source="GARD:16381"} synonym: "IMAGAWA-MATSUMOTO SYNDROME" RELATED [OMIM:618786] synonym: "IMMAS" RELATED ABBREVIATION [OMIM:618786] +xref: GARD:16381 {source="OMIM:618786"} xref: OMIM:618786 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618786"} ! hereditary disease [Term] id: MONDO:0032917 name: hearing loss, autosomal dominant 76 +subset: gard_rare {source="GARD:18154"} synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [OMIM:618787] synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787, OMIM:genemap2] synonym: "DFNA76" NARROW ABBREVIATION [OMIM:618787] xref: DOID:0112167 {source="MONDO:equivalentTo"} +xref: GARD:18154 {source="OMIM:618787"} xref: OMIM:618787 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618787"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss @@ -430207,8 +449232,10 @@ is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic in [Term] id: MONDO:0032920 name: juvenile arthritis due to defect in LACC1 +subset: gard_rare {source="GARD:16382"} synonym: "JUVAR" RELATED ABBREVIATION [OMIM:618795] synonym: "JUVENILE ARTHRITIS" RELATED [OMIM:618795] +xref: GARD:16382 {source="OMIM:618795"} xref: OMIM:618795 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618795"} ! hereditary disease @@ -430243,10 +449270,12 @@ is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar atax [Term] id: MONDO:0032924 name: ciliary dyskinesia, primary, 45 +subset: gard_rare {source="GARD:16383"} synonym: "CILD45" RELATED ABBREVIATION [OMIM:618801] synonym: "CILIARY DYSKINESIA, PRIMARY, 45" RELATED [OMIM:618801] synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801] xref: DOID:0111857 {source="MONDO:equivalentTo"} +xref: GARD:16383 {source="OMIM:618801"} xref: OMIM:618801 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618801"} ! hereditary disease is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia @@ -430297,6 +449326,7 @@ is_a: MONDO:0003847 {source="OMIM:618808"} ! hereditary disease [Term] id: MONDO:0032931 name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +subset: gard_rare {source="GARD:18034"} subset: ordo_disorder synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810] synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome" EXACT [Orphanet:615954] @@ -430304,6 +449334,7 @@ synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency s synonym: "PHRINL" RELATED ABBREVIATION [OMIM:618810] synonym: "Phrinl Syndrome" RELATED [OMIM:618810] synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" RELATED [OMIM:618810] +xref: GARD:18034 {source="Orphanet:615954"} xref: OMIM:618810 {source="MONDO:equivalentTo"} xref: Orphanet:615954 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618810"} ! hereditary disease @@ -430367,8 +449398,10 @@ is_a: MONDO:0019952 {source="OMIM:618823"} ! congenital myopathy [Term] id: MONDO:0032938 name: basal ganglia calcification, idiopathic, 8, autosomal recessive +subset: gard_rare {source="GARD:16384"} synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" RELATED [OMIM:618824] synonym: "IBGC8" RELATED ABBREVIATION [OMIM:618824] +xref: GARD:16384 {source="OMIM:618824"} xref: OMIM:618824 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618824"} ! hereditary disease is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis @@ -430387,9 +449420,11 @@ is_a: MONDO:0015802 {source="OMIM:618825"} ! autosomal dominant non-syndromic in [Term] id: MONDO:0032940 name: retinitis pigmentosa 88 +subset: gard_rare {source="GARD:16385"} synonym: "RETINITIS PIGMENTOSA 88" RELATED [OMIM:618826] synonym: "RP88" RELATED ABBREVIATION [OMIM:618826] xref: DOID:0112145 {source="MONDO:equivalentTo"} +xref: GARD:16385 {source="OMIM:618826"} xref: OMIM:618826 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618826"} ! hereditary disease is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa @@ -430431,6 +449466,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033004 name: polycystic kidney disease 4 def: "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." [DOID:0080212] +subset: gard_rare {source="GARD:6168"} synonym: "hepatic fibrosis, congenital" RELATED [OMIM:263200] synonym: "PKD3" RELATED DEPRECATED [OMIM:263200] synonym: "PKD3, formerly" RELATED [OMIM:263200] @@ -430443,6 +449479,7 @@ synonym: "polycystic kidney disease 4, with or without hepatic disease" EXACT [O synonym: "polycystic kidney disease, autosomal recessive" RELATED [OMIM:263200] synonym: "polycystic kidney disease, infantile, type 1" RELATED [OMIM:263200] xref: DOID:0080212 {source="MONDO:equivalentTo"} +xref: GARD:6168 {source="OMIM:263200"} xref: OMIM:263200 {source="MONDO:equivalentTo", source="DOID:0080212"} xref: Orphanet:731 {source="MONDO:relatedTo", source="OMIM:263200"} xref: UMLS:C0009714 {source="MONDO:relatedTo", source="OMIM:263200"} @@ -430460,6 +449497,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033005 name: Galloway-Mowat syndrome 1 +subset: gard_rare {source="GARD:15199"} synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300] synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300] synonym: "Galloway syndrome" RELATED [OMIM:251300] @@ -430471,6 +449509,7 @@ synonym: "nephrosis-neuronal dysmigration syndrome" RELATED [OMIM:251300] synonym: "spinocerebellar ataxia, autosomal recessive 5" RELATED [OMIM:251300] synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300] xref: DOID:0060364 {source="MONDO:equivalentTo"} +xref: GARD:15199 {source="OMIM:251300"} xref: OMIM:251300 {source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:251300"} xref: UMLS:C0795949 {source="OMIM:251300"} @@ -430481,11 +449520,13 @@ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:2 [Term] id: MONDO:0033006 name: Galloway-Mowat syndrome 2, X-linked +subset: gard_rare {source="GARD:15281"} synonym: "Galloway-Mowat syndrome 2" RELATED [DOID:0080244] synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [OMIM:301006] synonym: "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" EXACT [OMIM:301006, OMIM:genemap2] synonym: "GAMOS2" RELATED ABBREVIATION [OMIM:301006] xref: DOID:0080244 {source="MONDO:equivalentTo"} +xref: GARD:15281 {source="OMIM:301006"} xref: OMIM:301006 {source="DOID:0080244", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:301006"} xref: UMLS:C4538784 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:301006"} @@ -430496,9 +449537,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033007 name: Galloway-Mowat syndrome 3 +subset: gard_rare {source="GARD:16247"} synonym: "Galloway-Mowat syndrome 3" EXACT [OMIM:617729] synonym: "GAMOS3" RELATED ABBREVIATION [OMIM:617729] xref: DOID:0080245 {source="MONDO:equivalentTo"} +xref: GARD:16247 {source="OMIM:617729"} xref: OMIM:617729 {source="MONDO:equivalentTo", source="DOID:0080245"} xref: Orphanet:2065 {source="OMIM:617729"} xref: UMLS:C4540266 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617729"} @@ -430508,9 +449551,11 @@ is_a: MONDO:0009627 {source="DOID:0080245", source="OMIM:617729"} ! Galloway-Mow [Term] id: MONDO:0033008 name: Galloway-Mowat syndrome 4 +subset: gard_rare {source="GARD:16248"} synonym: "Galloway-Mowat syndrome 4" EXACT [OMIM:617730] synonym: "GAMOS4" RELATED ABBREVIATION [OMIM:617730] xref: DOID:0080246 {source="MONDO:equivalentTo"} +xref: GARD:16248 {source="OMIM:617730"} xref: OMIM:617730 {source="DOID:0080246", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:617730"} xref: UMLS:C4540270 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617730"} @@ -430520,9 +449565,11 @@ is_a: MONDO:0009627 {source="DOID:0080246", source="OMIM:617730"} ! Galloway-Mow [Term] id: MONDO:0033009 name: Galloway-Mowat syndrome 5 +subset: gard_rare {source="GARD:16249"} synonym: "Galloway-Mowat syndrome 5" EXACT [OMIM:617731] synonym: "GAMOS5" RELATED ABBREVIATION [OMIM:617731] xref: DOID:0080247 {source="MONDO:equivalentTo"} +xref: GARD:16249 {source="OMIM:617731"} xref: OMIM:617731 {source="MONDO:equivalentTo", source="DOID:0080247"} xref: Orphanet:2065 {source="OMIM:617731"} xref: UMLS:C4540274 {source="OMIM:617731", source="MONDO:notFoundInDiseaseSubset"} @@ -430554,9 +449601,11 @@ is_a: MONDO:0017851 {source="OMIM:133200"} ! erythrokeratodermia variabilis [Term] id: MONDO:0033012 name: erythrokeratodermia variabilis et progressiva 2 +subset: gard_rare {source="GARD:18588"} synonym: "EKVP2" RELATED ABBREVIATION [OMIM:617524] synonym: "erythrokeratodermia variabilis ET progressiva 2" RELATED [OMIM:617524] xref: DOID:0080248 {source="MONDO:equivalentTo"} +xref: GARD:18588 {source="OMIM:617524"} xref: OMIM:617524 {source="MONDO:equivalentTo", source="DOID:0080248"} xref: Orphanet:317 {source="OMIM:617524"} xref: UMLS:C4479618 {source="OMIM:617524", source="MONDO:equivalentTo"} @@ -430565,9 +449614,11 @@ is_a: MONDO:0017851 {source="DOID:0080248", source="OMIM:617524"} ! erythrokerat [Term] id: MONDO:0033013 name: erythrokeratodermia variabilis et progressiva 3 +subset: gard_rare {source="GARD:18589"} synonym: "EKVP3" RELATED ABBREVIATION [OMIM:617525] synonym: "erythrokeratodermia variabilis ET progressiva 3" RELATED [OMIM:617525] xref: DOID:0080249 {source="MONDO:equivalentTo"} +xref: GARD:18589 {source="OMIM:617525"} xref: OMIM:617525 {source="MONDO:equivalentTo", source="DOID:0080249"} xref: Orphanet:317 {source="OMIM:617525"} xref: UMLS:C4479619 {source="OMIM:617525", source="MONDO:equivalentTo"} @@ -430576,10 +449627,12 @@ is_a: MONDO:0017851 {source="DOID:0080249", source="OMIM:617525"} ! erythrokerat [Term] id: MONDO:0033014 name: erythrokeratodermia variabilis et progressiva 4 +subset: gard_rare {source="GARD:18590"} synonym: "EKVP4" RELATED ABBREVIATION [OMIM:617526] synonym: "erythrokeratodermia variabilis ET progressiva 4" RELATED [OMIM:617526] synonym: "erythrokeratodermia variabilis et progressiva 4" EXACT CLINGEN_PREFERRED [] xref: DOID:0080250 {source="MONDO:equivalentTo"} +xref: GARD:18590 {source="OMIM:617526"} xref: OMIM:617526 {source="DOID:0080250", source="MONDO:equivalentTo"} xref: Orphanet:317 {source="OMIM:617526"} xref: UMLS:C4479620 {source="OMIM:617526", source="MONDO:equivalentTo"} @@ -430588,9 +449641,11 @@ is_a: MONDO:0017851 {source="DOID:0080250", source="OMIM:617526"} ! erythrokerat [Term] id: MONDO:0033015 name: erythrokeratodermia variabilis et progressiva 5 +subset: gard_rare {source="GARD:18669"} synonym: "EKVP5" RELATED ABBREVIATION [OMIM:617756] synonym: "erythrokeratodermia variabilis ET progressiva 5" RELATED [OMIM:617756] xref: DOID:0080251 {source="MONDO:equivalentTo"} +xref: GARD:18669 {source="OMIM:617756"} xref: OMIM:617756 {source="MONDO:equivalentTo"} xref: Orphanet:316 {source="OMIM:617756"} xref: UMLS:C4540331 {source="OMIM:617756", source="MONDO:notFoundInDiseaseSubset"} @@ -430599,11 +449654,13 @@ is_a: MONDO:0017851 {source="DOID:0080251", source="OMIM:617756"} ! erythrokerat [Term] id: MONDO:0033043 name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy +subset: gard_rare {source="GARD:17964"} subset: ordo_disease synonym: "spastic ataxia 8" RELATED [DOID:0080252] synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [OMIM:617560] synonym: "SPAX8" RELATED ABBREVIATION [OMIM:617560] xref: DOID:0080252 {source="MONDO:equivalentTo"} +xref: GARD:17964 {source="Orphanet:527497"} xref: OMIM:617560 {source="DOID:0080252", source="MONDO:equivalentTo", source="Orphanet:527497"} xref: Orphanet:527497 {source="MONDO:equivalentTo"} xref: UMLS:C4479653 {source="MONDO:equivalentTo", source="OMIM:617560"} @@ -430616,10 +449673,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033044 name: Meckel syndrome 13 +subset: gard_rare {source="GARD:16236"} synonym: "Meckel syndrome 13" EXACT [OMIM:617562] synonym: "Meckel syndrome, type 13" EXACT [https://github.com/monarch-initiative/mondo/issues/300] synonym: "MKS13" RELATED ABBREVIATION [OMIM:617562] xref: DOID:0080253 {source="MONDO:equivalentTo"} +xref: GARD:16236 {source="OMIM:617562"} xref: OMIM:617562 {source="DOID:0080253", source="MONDO:equivalentTo"} xref: Orphanet:564 {source="OMIM:617562"} xref: UMLS:C4539714 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617562"} @@ -430652,9 +449711,11 @@ is_a: MONDO:0016817 {source="DOID:0080255", source="OMIM:617564"} ! Meier-Gorlin [Term] id: MONDO:0033047 name: Perrault syndrome 6 +subset: gard_rare {source="GARD:16237"} synonym: "Perrault syndrome 6" EXACT [OMIM:617565] synonym: "PRLTS6" RELATED ABBREVIATION [OMIM:617565] xref: DOID:0080256 {source="MONDO:equivalentTo"} +xref: GARD:16237 {source="OMIM:617565"} xref: OMIM:617565 {source="MONDO:equivalentTo", source="DOID:0080256"} xref: Orphanet:2855 {source="OMIM:617565"} xref: UMLS:C4479656 {source="MONDO:equivalentTo", source="OMIM:617565"} @@ -430663,6 +449724,8 @@ is_a: MONDO:0017312 {source="DOID:0080256", source="OMIM:617565"} ! Perrault syn [Term] id: MONDO:0033056 name: obsolete genetic facial cleft +subset: gard_rare {source="GARD:21740"} +xref: GARD:21740 {source="MONDO:obsoleteEquivalent", source="Orphanet:414726"} xref: Orphanet:414726 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -430671,10 +449734,12 @@ is_obsolete: true [Term] id: MONDO:0033091 name: ichthyosis, congenital, autosomal recessive 14 +subset: gard_rare {source="GARD:16471"} synonym: "ARCI14" RELATED ABBREVIATION [OMIM:617571] synonym: "autosomal recessive congenital ichthyosis 14" RELATED [DOID:0080258] synonym: "ichthyosis, congenital, autosomal recessive 14" EXACT [OMIM:617571] xref: DOID:0080258 {source="MONDO:equivalentTo"} +xref: GARD:16471 {source="OMIM:617571"} xref: OMIM:617571 {source="MONDO:equivalentTo", source="DOID:0080258"} xref: Orphanet:313 {source="MONDO:relatedTo", source="OMIM:617571"} xref: UMLS:C4539754 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617571"} @@ -430720,9 +449785,11 @@ is_a: MONDO:0015244 {source="DOID:0080260"} ! autosomal recessive cerebellar ata [Term] id: MONDO:0033123 name: exudative vitreoretinopathy 7 +subset: gard_rare {source="GARD:16238"} synonym: "EVR7" RELATED ABBREVIATION [OMIM:617572] synonym: "exudative vitreoretinopathy 7" EXACT [OMIM:617572] xref: DOID:0080264 {source="MONDO:equivalentTo"} +xref: GARD:16238 {source="OMIM:617572"} xref: OMIM:617572 {source="DOID:0080264", source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:617572"} xref: UMLS:C4539767 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617572"} @@ -430733,11 +449800,13 @@ is_a: MONDO:0019516 {source="DOID:0080264", source="OMIM:617572"} ! exudative vi id: MONDO:0033135 name: Charcot-Marie-Tooth disease, demyelinating, type 1G def: "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs." [Orphanet:476394] +subset: gard_rare {source="GARD:17851"} subset: ordo_disease synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT [OMIM:618279] synonym: "CMT1G" EXACT ABBREVIATION [OMIM:618279] synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [] xref: DOID:0111560 {source="MONDO:equivalentTo"} +xref: GARD:17851 {source="Orphanet:476394"} xref: OMIM:618279 {source="MONDO:equivalentTo", source="Orphanet:476394"} xref: Orphanet:476394 {source="MONDO:equivalentTo", source="OMIM:618279"} xref: UMLS:C4748940 {source="OMIM:618279"} @@ -430784,11 +449853,13 @@ is_obsolete: true [Term] id: MONDO:0033198 name: hearing loss, autosomal recessive 106 +subset: gard_rare {source="GARD:22656"} synonym: "autosomal recessive nonsyndromic deafness 106" NARROW [DOID:0080261] synonym: "deafness autosomal recessive 106" NARROW [OMIM:617637, OMIM:genemap2] synonym: "deafness, autosomal recessive 106" NARROW [OMIM:617637] synonym: "DFNB106" NARROW ABBREVIATION [OMIM:617637] xref: DOID:0080261 {source="MONDO:equivalentTo"} +xref: GARD:22656 {source="OMIM:617637"} xref: OMIM:617637 {source="DOID:0080261", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617637"} xref: UMLS:C4539954 {source="OMIM:617637", source="MONDO:notFoundInDiseaseSubset"} @@ -430799,10 +449870,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033199 name: hearing loss, autosomal recessive 107 +subset: gard_rare {source="GARD:22657"} synonym: "autosomal recessive nonsyndromic deafness 107" NARROW [DOID:0080262] synonym: "deafness, autosomal recessive 107" NARROW [OMIM:617639, OMIM:genemap2] synonym: "DFNB107" NARROW ABBREVIATION [OMIM:617639] xref: DOID:0080262 {source="MONDO:equivalentTo"} +xref: GARD:22657 {source="OMIM:617639"} xref: OMIM:617639 {source="DOID:0080262", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617639"} xref: UMLS:C4539964 {source="OMIM:617639", source="MONDO:notFoundInDiseaseSubset"} @@ -430813,10 +449886,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033200 name: hearing loss, autosomal recessive 108 +subset: gard_rare {source="GARD:22658"} synonym: "autosomal recessive nonsyndromic deafness 108" NARROW [DOID:0080263] synonym: "deafness, autosomal recessive 108" NARROW [OMIM:617654, OMIM:genemap2] synonym: "DFNB108" NARROW ABBREVIATION [OMIM:617654] xref: DOID:0080263 {source="MONDO:equivalentTo"} +xref: GARD:22658 {source="OMIM:617654"} xref: OMIM:617654 {source="DOID:0080263", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617654"} xref: UMLS:C4539997 {source="OMIM:617654", source="MONDO:notFoundInDiseaseSubset"} @@ -430851,6 +449926,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033203 name: nephrotic syndrome 14 +subset: gard_rare {source="GARD:13818"} subset: ordo_disease synonym: "familial steroid-resistant nephrotic syndrome with adrenal insufficiency" RELATED [Orphanet:506334] synonym: "nephrotic syndrome 14" EXACT [OMIM:617575] @@ -430858,6 +449934,7 @@ synonym: "nephrotic syndrome, type 14" EXACT [https://github.com/monarch-initiat synonym: "NPHS14" RELATED ABBREVIATION [OMIM:617575] synonym: "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" EXACT [Orphanet:506334] xref: DOID:0080265 {source="MONDO:equivalentTo"} +xref: GARD:13818 {source="Orphanet:506334"} xref: OMIM:617575 {source="DOID:0080265", source="MONDO:equivalentTo", source="Orphanet:506334"} xref: Orphanet:506334 {source="MONDO:equivalentTo", source="OMIM:617575"} xref: UMLS:C4539778 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617575"} @@ -430872,11 +449949,13 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0033204 name: ciliary dyskinesia, primary, 37 +subset: gard_rare {source="GARD:16239"} synonym: "CILD37" RELATED ABBREVIATION [OMIM:617577] synonym: "ciliary dyskinesia, primary, 37" EXACT [OMIM:617577] synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [OMIM:617577] synonym: "primary ciliary dyskinesia 37" RELATED [DOID:0080266] xref: DOID:0080266 {source="MONDO:equivalentTo"} +xref: GARD:16239 {source="OMIM:617577"} xref: OMIM:617577 {source="DOID:0080266", source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:617577"} xref: UMLS:C4539798 {source="OMIM:617577", source="MONDO:notFoundInDiseaseSubset"} @@ -430893,10 +449972,12 @@ replaced_by: MONDO:0017868 [Term] id: MONDO:0033258 name: hearing loss, autosomal dominant 71 +subset: gard_rare {source="GARD:18147"} synonym: "autosomal dominant nonsyndromic deafness 71" NARROW [DOID:0080267] synonym: "deafness, autosomal dominant 71" NARROW [OMIM:617605, OMIM:genemap2] synonym: "DFNA71" NARROW ABBREVIATION [OMIM:617605] xref: DOID:0080267 {source="MONDO:equivalentTo"} +xref: GARD:18147 {source="OMIM:617605"} xref: OMIM:617605 {source="MONDO:equivalentTo", source="DOID:0080267"} xref: Orphanet:90635 {source="OMIM:617605"} xref: UMLS:C4539881 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617605"} @@ -430907,10 +449988,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033259 name: hearing loss, autosomal dominant 72 +subset: gard_rare {source="GARD:18148"} synonym: "autosomal dominant nonsyndromic deafness 72" NARROW [DOID:0080268] synonym: "deafness, autosomal dominant 72" NARROW [OMIM:617606, OMIM:genemap2] synonym: "DFNA72" NARROW ABBREVIATION [OMIM:617606] xref: DOID:0080268 {source="MONDO:equivalentTo"} +xref: GARD:18148 {source="OMIM:617606"} xref: OMIM:617606 {source="DOID:0080268", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:617606"} xref: UMLS:C4539886 {source="OMIM:617606", source="MONDO:notFoundInDiseaseSubset"} @@ -430921,10 +450004,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033260 name: hearing loss, autosomal dominant 73 +subset: gard_rare {source="GARD:18149"} synonym: "autosomal dominant nonsyndromic deafness 73" NARROW [DOID:0080269] synonym: "deafness, autosomal dominant 73" NARROW [OMIM:617663, OMIM:genemap2] synonym: "DFNA73" NARROW ABBREVIATION [OMIM:617663] xref: DOID:0080269 {source="MONDO:equivalentTo"} +xref: GARD:18149 {source="OMIM:617663"} xref: OMIM:617663 {source="MONDO:equivalentTo", source="DOID:0080269"} xref: UMLS:C4540024 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617663"} xref: UMLS:CN461628 {source="MONDO:equivalentTo"} @@ -430978,11 +450063,13 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0033281 name: polycystic kidney disease 5 def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16242"} synonym: "DZIP1L polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PKD5" RELATED ABBREVIATION [OMIM:617610] synonym: "polycystic kidney disease 5" EXACT [OMIM:617610] synonym: "polycystic kidney disease caused by mutation in DZIP1L" EXACT [] xref: DOID:0080273 {source="MONDO:equivalentTo"} +xref: GARD:16242 {source="OMIM:617610"} xref: OMIM:617610 {source="DOID:0080273", source="MONDO:equivalentTo"} xref: Orphanet:731 {source="OMIM:617610", source="MONDO:relatedTo"} xref: UMLS:C4539903 {source="OMIM:617610", source="MONDO:notFoundInDiseaseSubset"} @@ -430996,9 +450083,11 @@ relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance [Term] id: MONDO:0033282 name: multiple mitochondrial dysfunctions syndrome 5 +subset: gard_rare {source="GARD:22305"} synonym: "MMDS5" RELATED ABBREVIATION [OMIM:617613] synonym: "multiple mitochondrial dysfunctions syndrome 5" EXACT [OMIM:617613] xref: DOID:0080274 {source="MONDO:equivalentTo"} +xref: GARD:22305 {source="Orphanet:569274"} xref: OMIM:617613 {source="DOID:0080274", source="MONDO:equivalentTo"} xref: Orphanet:569274 {source="MONDO:equivalentTo"} xref: UMLS:C4539919 {source="OMIM:617613", source="MONDO:notFoundInDiseaseSubset"} @@ -431019,9 +450108,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:400043"} ! inheri [Term] id: MONDO:0033308 name: Joubert syndrome 30 +subset: gard_rare {source="GARD:16243"} synonym: "JBTS30" RELATED ABBREVIATION [OMIM:617622] synonym: "Joubert syndrome 30" EXACT [OMIM:617622] xref: DOID:0080275 {source="MONDO:equivalentTo"} +xref: GARD:16243 {source="OMIM:617622"} xref: OMIM:617622 {source="DOID:0080275", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:617622"} xref: UMLS:C4539937 {source="OMIM:617622", source="MONDO:notFoundInDiseaseSubset"} @@ -431041,9 +450132,11 @@ is_a: MONDO:0018772 {source="DOID:0080278", source="OMIM:617757"} ! Joubert synd [Term] id: MONDO:0033310 name: Joubert syndrome 31 +subset: gard_rare {source="GARD:16251"} synonym: "JBTS31" RELATED ABBREVIATION [OMIM:617761] synonym: "Joubert syndrome 31" EXACT [OMIM:617761] xref: DOID:0080277 {source="MONDO:equivalentTo"} +xref: GARD:16251 {source="OMIM:617761"} xref: OMIM:617761 {source="DOID:0080277", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:617761"} xref: UMLS:C4540355 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617761"} @@ -431077,6 +450170,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033329 name: obsolete genetic precocious puberty +subset: gard_rare {source="GARD:21806"} +xref: GARD:21806 {source="Orphanet:435554", source="MONDO:obsoleteEquivalent"} xref: Orphanet:435554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -431085,6 +450180,8 @@ is_obsolete: true [Term] id: MONDO:0033331 name: obsolete genetic precocious puberty in female +subset: gard_rare {source="GARD:21808"} +xref: GARD:21808 {source="MONDO:obsoleteEquivalent", source="Orphanet:435564"} xref: Orphanet:435564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -431093,6 +450190,8 @@ is_obsolete: true [Term] id: MONDO:0033334 name: obsolete genetic nose and cavum anomaly +subset: gard_rare {source="GARD:21810"} +xref: GARD:21810 {source="MONDO:obsoleteEquivalent", source="Orphanet:435606"} xref: Orphanet:435606 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -431101,6 +450200,8 @@ is_obsolete: true [Term] id: MONDO:0033335 name: obsolete genetic larynx anomaly +subset: gard_rare {source="GARD:21811"} +xref: GARD:21811 {source="MONDO:obsoleteEquivalent", source="Orphanet:435609"} xref: Orphanet:435609 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -431109,6 +450210,8 @@ is_obsolete: true [Term] id: MONDO:0033336 name: obsolete genetic tracheal anomaly +subset: gard_rare {source="GARD:21812"} +xref: GARD:21812 {source="Orphanet:435612", source="MONDO:obsoleteEquivalent"} xref: Orphanet:435612 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -431128,11 +450231,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033361 name: developmental and epileptic encephalopathy, 52 +subset: gard_rare {source="GARD:16223"} synonym: "DEE52" EXACT ABBREVIATION [OMIM:617350] synonym: "developmental and epileptic encephalopathy 52" EXACT [OMIM:617350, OMIM:genemap2] synonym: "EIEE52" EXACT ABBREVIATION [OMIM:617350] synonym: "epileptic encephalopathy, early infantile, 52" EXACT [OMIM:617350] xref: DOID:0080455 {source="MONDO:equivalentTo"} +xref: GARD:16223 {source="OMIM:617350"} xref: OMIM:617350 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617350"} xref: UMLS:C4479236 {source="MONDO:equivalentTo", source="OMIM:617350"} @@ -431142,11 +450247,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033362 name: developmental and epileptic encephalopathy, 53 +subset: gard_rare {source="GARD:16224"} synonym: "DEE53" EXACT ABBREVIATION [OMIM:617389] synonym: "developmental and epileptic encephalopathy 53" EXACT [OMIM:617389, OMIM:genemap2] synonym: "EIEE53" EXACT ABBREVIATION [OMIM:617389] synonym: "epileptic encephalopathy, early infantile, 53" EXACT [OMIM:617389] xref: DOID:0080464 {source="MONDO:equivalentTo"} +xref: GARD:16224 {source="OMIM:617389"} xref: OMIM:617389 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617389"} xref: UMLS:C4479313 {source="MONDO:equivalentTo", source="OMIM:617389"} @@ -431156,11 +450263,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033363 name: developmental and epileptic encephalopathy, 54 +subset: gard_rare {source="GARD:16225"} synonym: "DEE54" EXACT ABBREVIATION [OMIM:617391] synonym: "developmental and epileptic encephalopathy 54" EXACT [OMIM:617391, OMIM:genemap2] synonym: "EIEE54" EXACT ABBREVIATION [OMIM:617391] synonym: "epileptic encephalopathy, early infantile, 54" EXACT [OMIM:617391] xref: DOID:0080418 {source="MONDO:equivalentTo"} +xref: GARD:16225 {source="OMIM:617391"} xref: OMIM:617391 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617391"} xref: UMLS:C4479319 {source="MONDO:equivalentTo", source="OMIM:617391"} @@ -431170,6 +450279,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033364 name: developmental and epileptic encephalopathy, 55 +subset: gard_rare {source="GARD:16241"} synonym: "DEE55" EXACT ABBREVIATION [OMIM:617599] synonym: "developmental and epileptic encephalopathy 55" EXACT [OMIM:617599, OMIM:genemap2] synonym: "EIEE55" EXACT ABBREVIATION [OMIM:617599] @@ -431177,6 +450287,7 @@ synonym: "epileptic encephalopathy, early infantile, 55" EXACT [OMIM:617599] synonym: "glycosylphosphatidylinositol biosynthesis defect 14" RELATED [OMIM:617599] synonym: "infantile epileptic encephalopathy 55" RELATED [DOID:0080283] xref: DOID:0080283 {source="MONDO:equivalentTo"} +xref: GARD:16241 {source="OMIM:617599"} xref: OMIM:617599 {source="DOID:0080283", source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617599"} xref: UMLS:C4539843 {source="OMIM:617599", source="MONDO:notFoundInDiseaseSubset"} @@ -431218,12 +450329,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033367 name: developmental and epileptic encephalopathy, 58 +subset: gard_rare {source="GARD:16259"} synonym: "DEE58" EXACT ABBREVIATION [OMIM:617830] synonym: "developmental and epileptic encephalopathy 58" EXACT [OMIM:617830, OMIM:genemap2] synonym: "EIEE58" EXACT ABBREVIATION [OMIM:617830] synonym: "epileptic encephalopathy, early infantile, 58" EXACT [OMIM:617830] synonym: "infantile epileptic encephalopathy 58" EXACT [DOID:0080285] xref: DOID:0080285 {source="MONDO:equivalentTo"} +xref: GARD:16259 {source="OMIM:617830"} xref: OMIM:617830 {source="DOID:0080285", source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:617830", source="MONDO:relatedTo"} xref: UMLS:CN757795 {source="MONDO:equivalentTo"} @@ -431247,11 +450360,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033369 name: developmental and epileptic encephalopathy, 60 +subset: gard_rare {source="GARD:16270"} synonym: "DEE60" EXACT ABBREVIATION [OMIM:617929] synonym: "developmental and epileptic encephalopathy 60" EXACT [OMIM:617929, OMIM:genemap2] synonym: "EIEE60" EXACT ABBREVIATION [OMIM:617929] synonym: "epileptic encephalopathy, early infantile, 60" EXACT [OMIM:617929] xref: DOID:0080432 {source="MONDO:equivalentTo"} +xref: GARD:16270 {source="OMIM:617929"} xref: OMIM:617929 {source="MONDO:equivalentTo"} xref: UMLS:CN244549 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:617929"} ! developmental and epileptic encephalopathy @@ -431273,11 +450388,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033371 name: developmental and epileptic encephalopathy, 62 +subset: gard_rare {source="GARD:16271"} synonym: "DEE62" EXACT ABBREVIATION [OMIM:617938] synonym: "developmental and epileptic encephalopathy 62" EXACT [OMIM:617938, OMIM:genemap2] synonym: "EIEE62" EXACT ABBREVIATION [OMIM:617938] synonym: "epileptic encephalopathy, early infantile, 62" EXACT [OMIM:617938] xref: DOID:0080420 {source="MONDO:equivalentTo"} +xref: GARD:16271 {source="OMIM:617938"} xref: OMIM:617938 {source="MONDO:equivalentTo"} xref: UMLS:CN244551 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:617938"} ! developmental and epileptic encephalopathy @@ -431312,11 +450429,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033374 name: developmental and epileptic encephalopathy, 65 +subset: gard_rare {source="GARD:16283"} synonym: "DEE65" EXACT ABBREVIATION [OMIM:618008] synonym: "developmental and epileptic encephalopathy 65" EXACT [OMIM:618008, OMIM:genemap2] synonym: "EIEE65" EXACT ABBREVIATION [OMIM:618008] synonym: "epileptic encephalopathy, early infantile, 65" EXACT [OMIM:618008] xref: DOID:0080430 {source="MONDO:equivalentTo"} +xref: GARD:16283 {source="OMIM:618008"} xref: OMIM:618008 {source="MONDO:equivalentTo"} xref: UMLS:CN248516 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental and epileptic encephalopathy @@ -431351,10 +450470,12 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033480 name: spinocerebellar ataxia 45 +subset: gard_rare {source="GARD:22353"} subset: ordo_disease synonym: "SCA45" RELATED ABBREVIATION [OMIM:617769] synonym: "spinocerebellar ataxia 45" EXACT [OMIM:617769] xref: DOID:0080287 {source="MONDO:equivalentTo"} +xref: GARD:22353 {source="Orphanet:589527"} xref: OMIM:617769 {source="DOID:0080287", source="MONDO:equivalentTo"} xref: Orphanet:589527 {source="MONDO:equivalentTo"} xref: UMLS:C4540400 {source="OMIM:617769", source="MONDO:notFoundInDiseaseSubset"} @@ -431367,11 +450488,13 @@ relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033481 name: spinocerebellar ataxia 46 +subset: gard_rare {source="GARD:22352"} subset: ordo_disease synonym: "SCA46" RELATED ABBREVIATION [OMIM:617770] synonym: "spinocerebellar ataxia 46" EXACT [OMIM:617770] synonym: "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:617770] xref: DOID:0080288 {source="MONDO:equivalentTo"} +xref: GARD:22352 {source="Orphanet:589522"} xref: OMIM:617770 {source="DOID:0080288", source="MONDO:equivalentTo"} xref: Orphanet:589522 {source="MONDO:equivalentTo"} xref: UMLS:C4540404 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617770"} @@ -431423,10 +450546,12 @@ is_a: MONDO:0018770 {source="DOID:0080295", source="OMIM:617895"} ! Jeune syndro [Term] id: MONDO:0033486 name: leukodystrophy, hypomyelinating, 14 +subset: gard_rare {source="GARD:16266"} synonym: "HLD14" RELATED ABBREVIATION [OMIM:617899] synonym: "hypomyelinating leukodystrophy 14" RELATED [DOID:0080296] synonym: "leukodystrophy, hypomyelinating, 14" EXACT [OMIM:617899] xref: DOID:0080296 {source="MONDO:equivalentTo"} +xref: GARD:16266 {source="OMIM:617899"} xref: OMIM:617899 {source="DOID:0080296", source="MONDO:equivalentTo"} xref: UMLS:CN845004 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", source="OMIM:617899"} ! leukodystrophy @@ -431435,11 +450560,13 @@ is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", sour id: MONDO:0033492 name: Coffin-Siris syndrome 6 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene." [MONDO:patterns/OMIM_disease_series_by_gene] +subset: gard_rare {source="GARD:16254"} synonym: "ARID2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "COFFIN-SIRIS syndrome 6" RELATED [OMIM:617808] synonym: "Coffin-Siris syndrome 6" EXACT CLINGEN_PREFERRED [] synonym: "CSS6" RELATED ABBREVIATION [OMIM:617808] xref: DOID:0080297 {source="MONDO:equivalentTo"} +xref: GARD:16254 {source="OMIM:617808"} xref: OMIM:617808 {source="DOID:0080297", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:relatedTo", source="OMIM:617808"} xref: UMLS:C4540499 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617808"} @@ -431453,12 +450580,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033493 name: fibromatosis, gingival, 5 +subset: gard_rare {source="GARD:18357"} synonym: "fibromatosis, gingival, 5" EXACT [OMIM:617626] synonym: "fibromatosis, gingival, hereditary, 5" RELATED [OMIM:617626] synonym: "GGF5" RELATED ABBREVIATION [OMIM:617626] synonym: "GINGF5" RELATED ABBREVIATION [OMIM:617626] synonym: "gingival fibromatosis 5" RELATED [DOID:0080280] xref: DOID:0080280 {source="MONDO:equivalentTo"} +xref: GARD:18357 {source="OMIM:617626"} xref: OMIM:617626 {source="MONDO:equivalentTo", source="DOID:0080280"} xref: Orphanet:2024 {source="OMIM:617626"} xref: UMLS:C4539942 {source="OMIM:617626", source="MONDO:notFoundInDiseaseSubset"} @@ -431541,18 +450670,22 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033544 name: Tolchin-Le Caignec syndrome +subset: gard_rare {source="GARD:18525"} synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [OMIM:618971] synonym: "intellectual developmental disorder With behavioural abnormalities and variable bone defects" RELATED OMO:0003005 [] synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971] synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971] +xref: GARD:18525 {source="OMIM:618971"} xref: OMIM:618971 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033545 name: mitochondrial DNA depletion syndrome 19 +subset: gard_rare {source="GARD:18370"} synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [OMIM:618972] synonym: "MTDPS19" RELATED ABBREVIATION [OMIM:618972] +xref: GARD:18370 {source="OMIM:618972"} xref: OMIM:618972 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018158 {source="OMIM:618972"} ! mitochondrial DNA depletion syndrome @@ -431570,9 +450703,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0033547 name: Li-Ghorbani-Weisz-Hubshman syndrome +subset: gard_rare {source="GARD:18526"} synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [OMIM:618974] synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [OMIM:618974, OMIM:genemap2] synonym: "LIGOWS" RELATED ABBREVIATION [OMIM:618974] +xref: GARD:18526 {source="OMIM:618974"} xref: OMIM:618974 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -431593,9 +450728,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033549 name: optic atrophy 12 +subset: gard_rare {source="GARD:16399"} synonym: "OPA12" RELATED ABBREVIATION [OMIM:618977] synonym: "OPTIC ATROPHY 12" RELATED [OMIM:618977] xref: DOID:0080840 {source="MONDO:equivalentTo"} +xref: GARD:16399 {source="OMIM:618977"} xref: OMIM:618977 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0043878 {source="OMIM:618977"} ! hereditary optic atrophy @@ -431647,9 +450784,11 @@ is_a: MONDO:0021094 {source="OMIM:618986"} ! immunodeficiency disease [Term] id: MONDO:0033555 name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia +subset: gard_rare {source="GARD:18300"} synonym: "IMD73C" EXACT ABBREVIATION [OMIM:618987] synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [OMIM:618987] xref: DOID:0112062 {source="MONDO:equivalentTo"} +xref: GARD:18300 {source="OMIM:618987"} xref: OMIM:618987 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency @@ -431671,9 +450810,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033557 name: hemophagocytic lymphohistiocytosis, familial, 6 +subset: gard_rare {source="GARD:16400"} synonym: "FHL6" RELATED ABBREVIATION [OMIM:618998] synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [OMIM:618998] synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998, OMIM:genemap2] +xref: GARD:16400 {source="OMIM:618998"} xref: OMIM:618998 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015541 {source="OMIM:618998"} ! hereditary hemophagocytic lymphohistiocytosis @@ -431691,17 +450832,21 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0033559 name: intellectual developmental disorder with seizures and language delay +subset: gard_rare {source="GARD:18527"} synonym: "IDDSELD" RELATED ABBREVIATION [OMIM:619000] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [OMIM:619000] +xref: GARD:18527 {source="OMIM:619000"} xref: OMIM:619000 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033560 name: mitochondrial complex 1 deficiency, nuclear type 35 +subset: gard_rare {source="GARD:16401"} synonym: "MC1DN35" RELATED ABBREVIATION [OMIM:619003] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [OMIM:619003] xref: DOID:0112139 {source="MONDO:equivalentTo"} +xref: GARD:16401 {source="OMIM:619003"} xref: OMIM:619003 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -431717,9 +450862,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0033562 name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +subset: gard_rare {source="GARD:18528"} synonym: "NEDDISH" RELATED ABBREVIATION [OMIM:619005] synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [OMIM:619005, OMIM:genemap2] synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [OMIM:619005] +xref: GARD:18528 {source="OMIM:619005"} xref: OMIM:619005 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -431739,8 +450886,10 @@ is_a: MONDO:0019200 {source="OMIM:619007"} ! retinitis pigmentosa [Term] id: MONDO:0033564 name: oocyte maturation defect 8 +subset: gard_rare {source="GARD:18498"} synonym: "OOCYTE MATURATION DEFECT 8" RELATED [OMIM:619009] synonym: "OOMD8" RELATED ABBREVIATION [OMIM:619009] +xref: GARD:18498 {source="OMIM:619009"} xref: OMIM:619009 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect @@ -431748,8 +450897,10 @@ is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect [Term] id: MONDO:0033565 name: oocyte maturation defect 9 +subset: gard_rare {source="GARD:18499"} synonym: "OOCYTE MATURATION DEFECT 9" RELATED [OMIM:619011] synonym: "OOMD9" RELATED ABBREVIATION [OMIM:619011] +xref: GARD:18499 {source="OMIM:619011"} xref: OMIM:619011 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:619011"} ! inherited oocyte maturation defect @@ -431797,15 +450948,16 @@ is_obsolete: true [Term] id: MONDO:0033572 name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +subset: gard_rare {source="GARD:18529"} synonym: "IDDEBF" RELATED ABBREVIATION [OMIM:619031] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES" RELATED [OMIM:619031] +xref: GARD:18529 {source="OMIM:619031"} xref: OMIM:619031 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033613 name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities -subset: gard_rare synonym: "cerebral palsy spastic quadriplegic" RELATED [GARD:0010447] synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:603513] synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513] @@ -431840,8 +450992,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033615 name: coenzyme q10 deficiency, primary, 9 +subset: gard_rare {source="GARD:16403"} synonym: "COQ10D9" EXACT ABBREVIATION [OMIM:619028] xref: DOID:0112138 {source="MONDO:equivalentTo"} +xref: GARD:16403 {source="OMIM:619028"} xref: OMIM:619028 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018151 {source="OMIM:619028"} ! coenzyme Q10 deficiency @@ -431895,8 +451049,10 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0033630 name: neurodevelopmental disorder with speech impairment and dysmorphic facies +subset: gard_rare {source="GARD:18530"} synonym: "NEDSID" EXACT ABBREVIATION [OMIM:619056] xref: DOID:0070417 {source="MONDO:equivalentTo"} +xref: GARD:18530 {source="OMIM:619056"} xref: OMIM:619056 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -431916,8 +451072,10 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0033635 name: mitochondrial complex 4 deficiency, nuclear type 3 +subset: gard_rare {source="GARD:16404"} synonym: "MC4DN3" EXACT ABBREVIATION [OMIM:619046] synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [OMIM:619046, OMIM:genemap2] +xref: GARD:16404 {source="OMIM:619046"} xref: OMIM:619046 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619046"} ! mitochondrial complex IV deficiency, nuclear-type @@ -431926,8 +451084,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033636 name: mitochondrial complex 4 deficiency, nuclear type 4 +subset: gard_rare {source="GARD:16405"} synonym: "MC4DN4" EXACT ABBREVIATION [OMIM:619048] synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [OMIM:619048, OMIM:genemap2] +xref: GARD:16405 {source="OMIM:619048"} xref: OMIM:619048 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619048"} ! mitochondrial complex IV deficiency, nuclear-type @@ -431936,8 +451096,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033637 name: mitochondrial complex 4 deficiency, nuclear type 7 +subset: gard_rare {source="GARD:16406"} synonym: "MC4DN7" EXACT ABBREVIATION [OMIM:619051] synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [OMIM:619051, OMIM:genemap2] +xref: GARD:16406 {source="OMIM:619051"} xref: OMIM:619051 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619051"} ! mitochondrial complex IV deficiency, nuclear-type @@ -431946,8 +451108,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033638 name: mitochondrial complex 4 deficiency, nuclear type 8 +subset: gard_rare {source="GARD:16407"} synonym: "MC4DN8" EXACT ABBREVIATION [OMIM:619052] synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [OMIM:619052, OMIM:genemap2] +xref: GARD:16407 {source="OMIM:619052"} xref: OMIM:619052 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619052"} ! mitochondrial complex IV deficiency, nuclear-type @@ -431956,8 +451120,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033639 name: mitochondrial complex 4 deficiency, nuclear type 10 +subset: gard_rare {source="GARD:16408"} synonym: "MC4DN10" EXACT ABBREVIATION [OMIM:619053] synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [OMIM:619053, OMIM:genemap2] +xref: GARD:16408 {source="OMIM:619053"} xref: OMIM:619053 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619053"} ! mitochondrial complex IV deficiency, nuclear-type @@ -431966,7 +451132,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033640 name: vitamin D-dependent rickets, type 3 +subset: gard_rare {source="GARD:18171"} synonym: "VDDR3" EXACT ABBREVIATION [OMIM:619073] +xref: GARD:18171 {source="OMIM:619073"} xref: OMIM:619073 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024299 {source="OMIM:619073"} ! vitamin D-dependent rickets @@ -431981,10 +451149,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0033642 name: neurodevelopmental disorder with alopecia and brain abnormalities +subset: gard_rare {source="GARD:17987"} subset: ordo_disease synonym: "Bachmann-Bupp syndrome" EXACT [OMIM:619075, OMIM:genemap2] synonym: "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" EXACT [MONDO:0034104] synonym: "NEDABA" EXACT ABBREVIATION [OMIM:619075] +xref: GARD:17987 {source="Orphanet:544488"} xref: OMIM:619075 {source="MONDO:equivalentTo"} xref: Orphanet:544488 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -432013,15 +451183,19 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033644 name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 +subset: gard_rare {source="GARD:18383"} synonym: "MRCS1" EXACT ABBREVIATION [OMIM:619082] +xref: GARD:18383 {source="OMIM:619082"} xref: OMIM:619082 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033645 name: mitochondrial complex 4 deficiency, nuclear type 11 +subset: gard_rare {source="GARD:16409"} synonym: "MC4DN11" EXACT ABBREVIATION [OMIM:619054] synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [OMIM:619054, OMIM:genemap2] +xref: GARD:16409 {source="OMIM:619054"} xref: OMIM:619054 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619054"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432030,8 +451204,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033646 name: mitochondrial complex 4 deficiency, nuclear type 12 +subset: gard_rare {source="GARD:16410"} synonym: "MC4DN12" EXACT ABBREVIATION [OMIM:619055] synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [OMIM:619055, OMIM:genemap2] +xref: GARD:16410 {source="OMIM:619055"} xref: OMIM:619055 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619055"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432040,8 +451216,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033649 name: mitochondrial complex 4 deficiency, nuclear type 14 +subset: gard_rare {source="GARD:16411"} synonym: "MC4DN14" EXACT ABBREVIATION [OMIM:619058] synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [OMIM:619058, OMIM:genemap2] +xref: GARD:16411 {source="OMIM:619058"} xref: OMIM:619058 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619058"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432050,8 +451228,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033650 name: mitochondrial complex 4 deficiency, nuclear type 15 +subset: gard_rare {source="GARD:16412"} synonym: "MC4DN15" EXACT ABBREVIATION [OMIM:619059] synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [OMIM:619059, OMIM:genemap2] +xref: GARD:16412 {source="OMIM:619059"} xref: OMIM:619059 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619059"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432060,8 +451240,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033651 name: mitochondrial complex 4 deficiency, nuclear type 16 +subset: gard_rare {source="GARD:16413"} synonym: "MC4DN16" EXACT ABBREVIATION [OMIM:619060] synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [OMIM:619060, OMIM:genemap2] +xref: GARD:16413 {source="OMIM:619060"} xref: OMIM:619060 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619060"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432070,8 +451252,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033652 name: mitochondrial complex 4 deficiency, nuclear type 17 +subset: gard_rare {source="GARD:16414"} synonym: "MC4DN17" EXACT ABBREVIATION [OMIM:619061] synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [OMIM:619061, OMIM:genemap2] +xref: GARD:16414 {source="OMIM:619061"} xref: OMIM:619061 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619061"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432080,8 +451264,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033653 name: mitochondrial complex 4 deficiency, nuclear type 18 +subset: gard_rare {source="GARD:16415"} synonym: "MC4DN18" EXACT ABBREVIATION [OMIM:619062] synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [OMIM:619062, OMIM:genemap2] +xref: GARD:16415 {source="OMIM:619062"} xref: OMIM:619062 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619062"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432090,8 +451276,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033654 name: mitochondrial complex 4 deficiency, nuclear type 19 +subset: gard_rare {source="GARD:16416"} synonym: "MC4DN19" EXACT ABBREVIATION [OMIM:619063] synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [OMIM:619063, OMIM:genemap2] +xref: GARD:16416 {source="OMIM:619063"} xref: OMIM:619063 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619063"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432100,8 +451288,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033655 name: mitochondrial complex 4 deficiency, nuclear type 20 +subset: gard_rare {source="GARD:16417"} synonym: "MC4DN20" EXACT ABBREVIATION [OMIM:619064] synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [OMIM:619064, OMIM:genemap2] +xref: GARD:16417 {source="OMIM:619064"} xref: OMIM:619064 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619064"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432110,8 +451300,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033656 name: mitochondrial complex 4 deficiency, nuclear type 21 +subset: gard_rare {source="GARD:16418"} synonym: "MC4DN21" EXACT ABBREVIATION [OMIM:619065] synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [OMIM:619065, OMIM:genemap2] +xref: GARD:16418 {source="OMIM:619065"} xref: OMIM:619065 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619065"} ! mitochondrial complex IV deficiency, nuclear-type @@ -432129,7 +451321,9 @@ is_a: MONDO:0019046 {source="OMIM:619071"} ! leukodystrophy [Term] id: MONDO:0033658 name: neurodevelopmental disorder with seizures and brain atrophy +subset: gard_rare {source="GARD:18531"} synonym: "NEDSEBA" EXACT ABBREVIATION [OMIM:619072] +xref: GARD:18531 {source="OMIM:619072"} xref: OMIM:619072 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -432138,7 +451332,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033662 name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy +subset: gard_rare {source="GARD:18532"} synonym: "NEDMISB" EXACT ABBREVIATION [OMIM:619076] +xref: GARD:18532 {source="OMIM:619076"} xref: OMIM:619076 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -432155,9 +451351,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0033665 name: hearing loss, autosomal dominant 78 +subset: gard_rare {source="GARD:18156"} synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2] synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081] xref: DOID:0112159 {source="MONDO:equivalentTo"} +xref: GARD:18156 {source="OMIM:619081"} xref: OMIM:619081 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss @@ -432167,16 +451365,20 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033667 name: Delpire-McNeill syndrome +subset: gard_rare {source="GARD:18533"} synonym: "DELMNES" EXACT ABBREVIATION [OMIM:619083] +xref: GARD:18533 {source="OMIM:619083"} xref: OMIM:619083 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033668 name: hearing loss, autosomal dominant 79 +subset: gard_rare {source="GARD:18157"} synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086, OMIM:genemap2] synonym: "DFNA79" NARROW ABBREVIATION [OMIM:619086] xref: DOID:0112160 {source="MONDO:equivalentTo"} +xref: GARD:18157 {source="OMIM:619086"} xref: OMIM:619086 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss @@ -432186,8 +451388,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033669 name: Noonan syndrome 13 +subset: gard_rare {source="GARD:16419"} synonym: "NS13" EXACT ABBREVIATION [OMIM:619087] xref: DOID:0112161 {source="MONDO:equivalentTo"} +xref: GARD:16419 {source="OMIM:619087"} xref: NCIT:C177121 {source="MONDO:equivalentTo"} xref: OMIM:619087 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -432196,9 +451400,11 @@ is_a: MONDO:0018997 {source="OMIM:619087"} ! Noonan syndrome [Term] id: MONDO:0033670 name: hearing loss, autosomal recessive 116 +subset: gard_rare {source="GARD:22664"} synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093, OMIM:genemap2] synonym: "DFNB116" NARROW ABBREVIATION [OMIM:619093] xref: DOID:0112162 {source="MONDO:equivalentTo"} +xref: GARD:22664 {source="OMIM:619093"} xref: OMIM:619093 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019588 {source="OMIM:619093"} ! hearing loss, autosomal recessive @@ -432218,7 +451424,9 @@ is_a: MONDO:0004983 {source="OMIM:619094"} ! spermatogenic failure id: MONDO:0033672 name: Duane anomaly-myopathy-scoliosis syndrome def: "Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." [Orphanet:50817] +subset: gard_rare {source="GARD:18842"} subset: ordo_disease +xref: GARD:18842 {source="Orphanet:50817"} xref: Orphanet:50817 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:50817"} ! disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease @@ -432240,7 +451448,9 @@ is_a: MONDO:0004983 {source="OMIM:619095"} ! spermatogenic failure [Term] id: MONDO:0033682 name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome +subset: gard_rare {source="GARD:22070"} subset: ordo_disease +xref: GARD:22070 {source="Orphanet:508533"} xref: Orphanet:508533 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:508533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015708 {source="Orphanet:508533"} ! immuno-osseous dysplasia @@ -432250,8 +451460,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033683 name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome +subset: gard_rare {source="GARD:22071"} subset: ordo_disease synonym: "MYSM1 deficiency" EXACT [Orphanet:508542] +xref: GARD:22071 {source="Orphanet:508542"} xref: Orphanet:508542 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:508542"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015708 {source="Orphanet:508542"} ! immuno-osseous dysplasia @@ -432266,7 +451478,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033717 name: congenital cerebellar ataxia due to RNU12 mutation def: "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." [Orphanet:512260] +subset: gard_rare {source="GARD:22075"} subset: ordo_disease +xref: GARD:22075 {source="Orphanet:512260"} xref: Orphanet:512260 {source="MONDO:equivalentTo"} is_a: MONDO:0020043 {source="Orphanet:512260"} ! autosomal recessive congenital cerebellar ataxia intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia @@ -432277,7 +451491,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033809 name: isolated blepharochalasis +subset: gard_rare {source="GARD:22124"} subset: ordo_disease +xref: GARD:22124 {source="Orphanet:519390"} xref: Orphanet:519390 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:519390"} ! disease is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder @@ -432286,7 +451502,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033810 name: isolated iridoschisis +subset: gard_rare {source="GARD:22125"} subset: ordo_disease +xref: GARD:22125 {source="Orphanet:519392"} xref: Orphanet:519392 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:519392"} ! disease is_a: MONDO:0019503 {source="Orphanet:519392"} ! anterior segment dysgenesis @@ -432295,7 +451513,9 @@ is_a: MONDO:0019503 {source="Orphanet:519392"} ! anterior segment dysgenesis id: MONDO:0033816 name: thygeson superficial punctate keratopathy def: "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease." [https://eyewiki.aao.org/Thygeson%C2%B4s_superficial_punctate_keratitis, MONDO:cjm] +subset: gard_rare {source="GARD:22131"} subset: ordo_disease +xref: GARD:22131 {source="Orphanet:519406"} xref: Orphanet:519406 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder relationship: disease_has_location UBERON:0000964 ! cornea @@ -432304,8 +451524,10 @@ relationship: disease_has_location UBERON:0000964 ! cornea id: MONDO:0033818 name: Terrien marginal degeneration def: "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" [https://eyewiki.aao.org/Terrien%27s_Marginal_Degeneration, MONDO:cjm] +subset: gard_rare {source="GARD:22133"} subset: ordo_disease synonym: "Terrien's marginal degeneration" EXACT [https://eyewiki.aao.org/Terrien%27s_Marginal_Degeneration] +xref: GARD:22133 {source="Orphanet:519410"} xref: Orphanet:519410 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder relationship: disease_has_location UBERON:0000964 ! cornea @@ -432313,7 +451535,9 @@ relationship: disease_has_location UBERON:0000964 ! cornea [Term] id: MONDO:0033821 name: fungal keratitis +subset: gard_rare {source="GARD:22134"} subset: ordo_disease +xref: GARD:22134 {source="Orphanet:519930"} xref: NCIT:C128370 {source="MONDO:equivalentTo"} xref: Orphanet:519930 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:519930"} ! disease @@ -432324,7 +451548,9 @@ intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea [Term] id: MONDO:0033838 name: radiation-induced plexopathy +subset: gard_rare {source="GARD:22137"} subset: ordo_disease +xref: GARD:22137 {source="Orphanet:521123"} xref: Orphanet:521123 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:521123"} ! acquired peripheral neuropathy intersection_of: MONDO:0024432 ! nerve plexus disorder @@ -432333,7 +451559,9 @@ intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagne [Term] id: MONDO:0033839 name: osteoradionecrosis of the mandible +subset: gard_rare {source="GARD:22138"} subset: ordo_disease +xref: GARD:22138 {source="Orphanet:521127"} xref: Orphanet:521127 {source="MONDO:equivalentTo"} is_a: MONDO:0005380 {source="Orphanet:521127"} ! osteonecrosis is_a: MONDO:0043735 {source="Orphanet:521127"} ! osteoradionecrosis @@ -432343,7 +451571,9 @@ relationship: excluded_subClassOf MONDO:0043459 {source="Orphanet:521127"} ! rad [Term] id: MONDO:0033850 name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect +subset: gard_rare {source="GARD:22143"} subset: ordo_disease +xref: GARD:22143 {source="Orphanet:521411"} xref: Orphanet:521411 {source="MONDO:equivalentTo"} is_a: MONDO:0017762 {source="Orphanet:521411"} ! disorder of copper metabolism relationship: has_characteristic HP:0000007 {source="Orphanet:521411"} ! Autosomal recessive inheritance @@ -432353,7 +451583,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033853 name: congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:22144"} subset: ordo_disease +xref: GARD:22144 {source="Orphanet:521432"} xref: Orphanet:521432 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:521432"} ! disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -432369,8 +451601,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033856 name: LAMA5-related multisystemic syndrome def: "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:521450] +subset: gard_rare {source="GARD:22146"} subset: n_of_one subset: ordo_disease +xref: GARD:22146 {source="Orphanet:521450"} xref: Orphanet:521450 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:521450"} ! disease is_a: MONDO:0005554 {source="Orphanet:521450"} ! rheumatic disorder @@ -432381,7 +451615,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033862 name: primary autoimmune enteropathy +subset: gard_rare {source="GARD:22147"} subset: ordo_disease +xref: GARD:22147 {source="Orphanet:522037"} xref: Orphanet:522037 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:522037"} ! disease is_a: MONDO:0019787 {source="Orphanet:522037"} ! autoimmune enteropathy @@ -432389,8 +451625,10 @@ is_a: MONDO:0019787 {source="Orphanet:522037"} ! autoimmune enteropathy [Term] id: MONDO:0033864 name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +subset: gard_rare {source="GARD:17962"} subset: ordo_disease synonym: "Baker-Gordon syndrome" EXACT [OMIM:618218, OMIM:genemap2] +xref: GARD:17962 {source="Orphanet:522077"} xref: OMIM:618218 {source="MONDO:equivalentTo", source="Orphanet:522077"} xref: Orphanet:522077 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -432418,7 +451656,9 @@ is_obsolete: true [Term] id: MONDO:0033925 name: pediatric-onset Graves disease +subset: gard_rare {source="GARD:22190"} subset: ordo_disease +xref: GARD:22190 {source="Orphanet:525731"} xref: Orphanet:525731 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005364 ! Graves disease intersection_of: has_characteristic HP:0410280 ! Pediatric onset @@ -432426,7 +451666,9 @@ intersection_of: has_characteristic HP:0410280 ! Pediatric onset [Term] id: MONDO:0033926 name: prepubertal anorexia nervosa +subset: gard_rare {source="GARD:22191"} subset: ordo_disease +xref: GARD:22191 {source="Orphanet:525738"} xref: Orphanet:525738 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0005351 {source="https://orcid.org/0000-0001-5208-3432"} ! anorexia nervosa @@ -432435,6 +451677,8 @@ relationship: excluded_subClassOf MONDO:0015889 {source="Orphanet:525738"} ! obs [Term] id: MONDO:0033927 name: obsolete genetic complex vascular malformation with associated anomalies +subset: gard_rare {source="GARD:21922"} +xref: GARD:21922 {source="Orphanet:459537", source="MONDO:obsoleteEquivalent"} xref: Orphanet:459537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -432443,8 +451687,10 @@ is_obsolete: true [Term] id: MONDO:0033938 name: acute radiation syndrome +subset: gard_rare {source="GARD:21896"} subset: ordo_disorder synonym: "Acute radiation sickness" EXACT [Orphanet:454831] +xref: GARD:21896 {source="Orphanet:454831"} xref: ICD10CM:T66 {source="Orphanet:454831"} xref: MESH:D054508 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:454831 {source="MONDO:equivalentTo"} @@ -432465,6 +451711,7 @@ replaced_by: MONDO:0060564 id: MONDO:0033946 name: hereditary angioedema with C1Inh deficiency def: "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." [MESH:D056829] +subset: gard_rare {source="GARD:22194"} subset: ordo_disease synonym: "angioedema, hereditary, 1 and 2" EXACT [OMIM:106100, OMIM:genemap2] synonym: "angioedema, hereditary, type 1" RELATED [OMIM:106100] @@ -432475,6 +451722,7 @@ synonym: "angioneurotic edema, hereditary" RELATED [OMIM:106100] synonym: "C1 esterase inhibitor, deficiency of" RELATED [OMIM:106100] synonym: "HAE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106100] xref: DOID:0080939 {source="MONDO:equivalentTo"} +xref: GARD:22194 {source="Orphanet:528623"} xref: MESH:D056829 xref: OMIM:106100 {source="MONDO:equivalentTo"} xref: Orphanet:100050 {source="OMIM:106100"} @@ -432492,6 +451740,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033947 name: obsolete hereditary angioedema with normal C1Inh +subset: gard_rare {source="GARD:22195"} +xref: GARD:22195 {source="Orphanet:528647", source="MONDO:obsoleteEquivalent"} xref: Orphanet:528647 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432504,7 +451754,9 @@ is_obsolete: true [Term] id: MONDO:0033948 name: acquired angioedema with C1Inh deficiency +subset: gard_rare {source="GARD:22196"} subset: ordo_disease +xref: GARD:22196 {source="Orphanet:528663"} xref: Orphanet:528663 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:528663"} ! disease is_a: MONDO:0019624 {source="Orphanet:528663"} ! acquired angioedema @@ -432512,7 +451764,9 @@ is_a: MONDO:0019624 {source="Orphanet:528663"} ! acquired angioedema [Term] id: MONDO:0033954 name: monoclonal mast cell activation syndrome +subset: gard_rare {source="GARD:12980"} subset: ordo_disease +xref: GARD:12980 {source="Orphanet:529468"} xref: NCIT:C181652 {source="MONDO:equivalentTo"} xref: Orphanet:529468 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:529468"} ! disease @@ -432526,6 +451780,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033967 name: obsolete immune dysregulation with inflammatory bowel disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity' +subset: gard_rare {source="GARD:22203"} +xref: GARD:22203 {source="MONDO:obsoleteEquivalent", source="Orphanet:529974"} xref: Orphanet:529974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -432535,7 +451791,9 @@ consider: MONDO:0015823 [Term] id: MONDO:0033968 name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome +subset: gard_rare {source="GARD:22204"} subset: ordo_disease +xref: GARD:22204 {source="Orphanet:529977"} xref: Orphanet:529977 {source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity relationship: has_characteristic HP:0000007 {source="Orphanet:529977"} ! Autosomal recessive inheritance @@ -432543,7 +451801,9 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:529977"} ! Autosom [Term] id: MONDO:0033969 name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome +subset: gard_rare {source="GARD:22205"} subset: ordo_disease +xref: GARD:22205 {source="Orphanet:529980"} xref: Orphanet:529980 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:529980"} ! disease is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity @@ -432551,8 +451811,10 @@ is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn er [Term] id: MONDO:0033980 name: RELA fusion-positive ependymoma +subset: gard_rare {source="GARD:22210"} subset: ordo_disease xref: DOID:0080892 {source="MONDO:equivalentTo"} +xref: GARD:22210 {source="Orphanet:530792"} xref: Orphanet:530792 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:530792"} ! disease is_a: MONDO:0003266 {source="Orphanet:530792"} ! ependymal tumor @@ -432566,8 +451828,10 @@ replaced_by: MONDO:0010962 [Term] id: MONDO:0034021 name: spondylodysplastic Ehlers-Danlos syndrome +subset: gard_rare {source="GARD:22214"} subset: ordo_disease synonym: "spondylodysplastic EDS" EXACT [Orphanet:536471] +xref: GARD:22214 {source="Orphanet:536471"} xref: Orphanet:536471 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:536471"} ! disease is_a: MONDO:0020066 {source="Orphanet:536471"} ! Ehlers-Danlos syndrome @@ -432575,6 +451839,7 @@ is_a: MONDO:0020066 {source="Orphanet:536471"} ! Ehlers-Danlos syndrome [Term] id: MONDO:0034022 name: Bethlem myopathy 2 +subset: gard_rare {source="GARD:22215", source="GARD:16121"} subset: ordo_disease synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471] synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] @@ -432585,6 +451850,8 @@ synonym: "EDS, myopathic type" EXACT [OMIM:616471] synonym: "Ehlers-Danlos syndrome, myopathic type" EXACT [OMIM:616471] synonym: "myopathic EDS" EXACT [Orphanet:536516] synonym: "myopathic Ehlers-Danlos syndrome" EXACT [Orphanet:536516] +xref: GARD:16121 {source="OMIM:616471"} +xref: GARD:22215 {source="Orphanet:536516"} xref: OMIM:616471 {source="MONDO:equivalentTo"} xref: Orphanet:536516 {source="MONDO:equivalentTo"} xref: Orphanet:610 {source="OMIM:616471"} @@ -432601,8 +451868,10 @@ property_value: confidence "2.4105263157894736" xsd:double id: MONDO:0034024 name: obsolete kyphoscoliotic Ehlers-Danlos syndrome def: "OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." [https://orcid.org/0000-0001-5493-2602, Orphanet:536545] +subset: gard_rare {source="GARD:2083"} synonym: "EDS VI" EXACT ABBREVIATION [Orphanet:536545] synonym: "kyphoscoliotic EDS" EXACT [Orphanet:536545] +xref: GARD:2083 {source="Orphanet:536545", source="MONDO:obsoleteEquivalent"} xref: Orphanet:536545 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4918" xsd:anyURI @@ -432616,6 +451885,8 @@ is_obsolete: true id: MONDO:0034028 name: obsolete symptomatic form of hemochromatosis type 1 def: "OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus." [Orphanet:465508] +subset: gard_rare {source="GARD:10417"} +xref: GARD:10417 {source="MONDO:obsoleteEquivalent", source="Orphanet:465508"} xref: Orphanet:465508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeClinicalModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -432624,6 +451895,8 @@ is_obsolete: true [Term] id: MONDO:0034039 name: obsolete genetic hemoglobinopathy +subset: gard_rare {source="GARD:21934"} +xref: GARD:21934 {source="MONDO:obsoleteEquivalent", source="Orphanet:466066"} xref: Orphanet:466066 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -432633,7 +451906,9 @@ is_obsolete: true id: MONDO:0034041 name: congenital axonal neuropathy with encephalopathy def: "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." [Orphanet:538101] +subset: gard_rare {source="GARD:22218"} subset: ordo_disease +xref: GARD:22218 {source="Orphanet:538101"} xref: Orphanet:538101 {source="MONDO:equivalentTo"} is_a: MONDO:0004183 {source="https://orcid.org/0000-0001-5208-3432"} ! axonal neuropathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -432642,8 +451917,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0034054 name: severe combined immunodeficiency due to CD70 deficiency +subset: gard_rare {source="GARD:17978"} subset: ordo_disease synonym: "lymphoproliferative syndrome 3" EXACT [OMIM:618261, OMIM:genemap2] +xref: GARD:17978 {source="Orphanet:538958"} xref: OMIM:618261 {source="Orphanet:538958", source="MONDO:equivalentTo"} xref: Orphanet:538958 {source="MONDO:equivalentTo"} is_a: MONDO:0016537 {source="Orphanet:538958", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome @@ -432661,7 +451938,9 @@ replaced_by: MONDO:0006583 [Term] id: MONDO:0034092 name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome +subset: gard_rare {source="GARD:22231"} subset: ordo_disease +xref: GARD:22231 {source="Orphanet:543470"} xref: Orphanet:543470 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:543470"} ! disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy @@ -432673,7 +451952,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0034099 name: SYNGAP1-related developmental and epileptic encephalopathy def: "A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)." [Orphanet:544254] +subset: gard_rare {source="GARD:22232"} subset: ordo_disease +xref: GARD:22232 {source="Orphanet:544254"} xref: Orphanet:544254 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:544254"} ! infantile epilepsy syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 {source="Orphanet:544254"} ! SYNGAP1 @@ -432681,7 +451962,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0034103 name: infection-related hemolytic uremic syndrome +subset: gard_rare {source="GARD:22234"} subset: ordo_disease +xref: GARD:22234 {source="Orphanet:544482"} xref: Orphanet:544482 {source="MONDO:equivalentTo"} is_a: MONDO:0001549 ! hemolytic-uremic syndrome intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome @@ -432698,12 +451981,14 @@ replaced_by: MONDO:0033642 [Term] id: MONDO:0034106 name: developmental and epileptic encephalopathy, 73 +subset: gard_rare {source="GARD:17988"} subset: ordo_disease synonym: "DEE73" EXACT ABBREVIATION [OMIM:618379] synonym: "developmental and epileptic encephalopathy 73" EXACT [OMIM:618379, OMIM:genemap2] synonym: "epileptic encephalopathy, early infantile, 73" EXACT [OMIM:618379] synonym: "rnf13-related severe early-onset epileptic encephalopathy" EXACT [Orphanet:544503] xref: DOID:0112209 {source="MONDO:equivalentTo"} +xref: GARD:17988 {source="Orphanet:544503"} xref: OMIM:618379 {source="Orphanet:544503", source="MONDO:equivalentTo"} xref: Orphanet:544503 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:544503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -432716,10 +452001,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0034109 name: congenital myopathy with reduced type 2 muscle fibers +subset: gard_rare {source="GARD:17989"} subset: ordo_disease synonym: "myopathy, congenital, with fast-twitch (type II) fiber atrophy" EXACT [OMIM:618414, OMIM:genemap2] synonym: "myopathy, congenital, with fast-twitch (type II) fibre atrophy" EXACT OMO:0003005 [] xref: DOID:0081346 {source="MONDO:equivalentTo"} +xref: GARD:17989 {source="Orphanet:544602"} xref: OMIM:618414 {source="Orphanet:544602", source="MONDO:equivalentTo"} xref: Orphanet:544602 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="OMIM:618414", source="Orphanet:544602"} ! congenital myopathy @@ -432732,16 +452019,20 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0034110 name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome +subset: gard_rare {source="GARD:22238"} subset: ordo_disease +xref: GARD:22238 {source="Orphanet:544628"} xref: Orphanet:544628 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder [Term] id: MONDO:0034121 name: NAD(P)HX dehydratase deficiency +subset: gard_rare {source="GARD:17990"} subset: ordo_disease synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2" RELATED [OMIM:618321] synonym: "PEBEL2" RELATED ABBREVIATION [OMIM:618321] +xref: GARD:17990 {source="Orphanet:555402"} xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"} xref: Orphanet:555402 {source="MONDO:equivalentTo", source="OMIM:618321"} xref: UMLS:C5193026 {source="OMIM:618321"} @@ -432761,22 +452052,28 @@ replaced_by: MONDO:0014960 [Term] id: MONDO:0034127 name: IgA pemphigus +subset: gard_rare {source="GARD:22242"} subset: ordo_disease xref: DOID:0080851 {source="MONDO:equivalentTo"} +xref: GARD:22242 {source="Orphanet:555905"} xref: Orphanet:555905 {source="MONDO:equivalentTo"} is_a: MONDO:0019337 {source="Orphanet:555905"} ! autoimmune bullous skin disease [Term] id: MONDO:0034142 name: pancreatic agenesis-holoprosencephaly syndrome +subset: gard_rare {source="GARD:17992"} subset: ordo_disease +xref: GARD:17992 {source="Orphanet:556955"} xref: Orphanet:556955 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:556955"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability [Term] id: MONDO:0034143 name: early-onset calcifying leukoencephalopathy-skeletal dysplasia +subset: gard_rare {source="GARD:22246"} subset: ordo_disease +xref: GARD:22246 {source="Orphanet:556985"} xref: Orphanet:556985 {source="MONDO:equivalentTo"} is_a: MONDO:0017198 {source="Orphanet:556985"} ! osteopetrosis is_a: MONDO:0019046 {source="Orphanet:556985"} ! leukodystrophy @@ -432785,10 +452082,12 @@ is_a: MONDO:0024237 {source="Orphanet:556985"} ! inherited neurodegenerative dis [Term] id: MONDO:0034145 name: oculocerebrodental syndrome +subset: gard_rare {source="GARD:17993"} subset: ordo_disease synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440] synonym: "OCSKD" RELATED ABBREVIATION [OMIM:618440] synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440] +xref: GARD:17993 {source="Orphanet:557003"} xref: OMIM:618440 {source="MONDO:equivalentTo"} xref: Orphanet:557003 {source="MONDO:equivalentTo", source="OMIM:618440"} xref: UMLS:C5193101 {source="OMIM:618440"} @@ -432802,7 +452101,9 @@ relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:557003"} ! obs [Term] id: MONDO:0034146 name: spastic ataxia-dysarthria due to glutaminase deficiency +subset: gard_rare {source="GARD:22247"} subset: ordo_disease +xref: GARD:22247 {source="Orphanet:557056"} xref: Orphanet:557056 {source="MONDO:equivalentTo"} is_a: MONDO:0017847 {source="Orphanet:557056", source="PMID:30970188"} ! autosomal recessive spastic ataxia is_a: MONDO:0019052 {source="Orphanet:557056", source="PMID:30970188"} ! inborn errors of metabolism @@ -432813,6 +452114,7 @@ property_value: excluded_subClassOf "http://purl.obolibrary.org/obo/MONDO_001735 [Term] id: MONDO:0034147 name: obsolete neonatal epileptic encephalopathy due to glutaminase deficiency +xref: GARD:17994 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6329" xsd:anyURI is_obsolete: true @@ -432821,7 +452123,9 @@ replaced_by: MONDO:0032678 [Term] id: MONDO:0034150 name: idiopathic gastroparesis +subset: gard_rare {source="GARD:22249"} subset: ordo_disease +xref: GARD:22249 {source="Orphanet:558411"} xref: Orphanet:558411 {source="MONDO:equivalentTo"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder is_a: MONDO:0006769 {source="https://orcid.org/0000-0002-3458-4839"} ! gastroparesis @@ -432832,7 +452136,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0034186 name: autosomal recessive extra-oral halitosis +subset: gard_rare {source="GARD:17996"} subset: ordo_disease +xref: GARD:17996 {source="Orphanet:562538"} xref: Orphanet:562538 {source="MONDO:equivalentTo"} is_a: MONDO:0019222 {source="Orphanet:562538"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -432840,7 +452146,9 @@ relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance [Term] id: MONDO:0034189 name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome +subset: gard_rare {source="GARD:22250"} subset: ordo_disease +xref: GARD:22250 {source="Orphanet:562639"} xref: Orphanet:562639 {source="MONDO:equivalentTo"} is_a: MONDO:0004789 {source="MONDO:cjm"} ! cholangitis is_a: MONDO:0016264 {source="MONDO:cjm"} ! autoimmune hepatitis @@ -432848,7 +452156,9 @@ is_a: MONDO:0016264 {source="MONDO:cjm"} ! autoimmune hepatitis [Term] id: MONDO:0034204 name: syndromic congenital sodium diarrhea +subset: gard_rare {source="GARD:22262"} subset: ordo_disease +xref: GARD:22262 {source="Orphanet:563708"} xref: Orphanet:563708 {source="MONDO:equivalentTo"} is_a: MONDO:0015170 {source="MONDO:cjm"} ! congenital sodium diarrhea intersection_of: MONDO:0015170 ! congenital sodium diarrhea @@ -432859,7 +452169,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0034212 name: methotrexate toxicity +subset: gard_rare {source="GARD:22269"} subset: ordo_disease +xref: GARD:22269 {source="Orphanet:565782"} xref: Orphanet:565782 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:565782"} ! disease is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning @@ -432870,8 +452182,10 @@ intersection_of: realized_in_response_to_stimulus CHEBI:44185 ! methotrexate [Term] id: MONDO:0034216 name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha +subset: gard_rare {source="GARD:22275"} subset: ordo_disease synonym: "resistance to thyroid hormone alpha" EXACT [Orphanet:566231] +xref: GARD:22275 {source="Orphanet:566231"} xref: Orphanet:566231 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:566231"} ! disease intersection_of: MONDO:0001328 ! thyroid hormone resistance syndrome @@ -432882,6 +452196,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0034217 name: obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta +subset: gard_rare {source="GARD:18002"} +xref: GARD:18002 {source="MONDO:obsoleteEquivalent", source="Orphanet:566243"} xref: ICD10CM:E07.8 {source="Orphanet:Attributed", source="Orphanet:566243"} xref: Orphanet:566243 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -432894,6 +452210,8 @@ is_obsolete: true [Term] id: MONDO:0034443 name: obsolete genetic non-acquired premature ovarian failure +subset: gard_rare {source="GARD:21992"} +xref: GARD:21992 {source="MONDO:obsoleteEquivalent", source="Orphanet:485382"} xref: Orphanet:485382 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -432903,13 +452221,17 @@ is_obsolete: true id: MONDO:0034556 name: vibratory angioedema def: "Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening." [Orphanet:493348] +subset: gard_rare {source="GARD:17901"} subset: ordo_disorder +xref: GARD:17901 {source="Orphanet:493348"} xref: Orphanet:493348 {source="MONDO:equivalentTo"} is_a: MONDO:0019624 {source="https://orcid.org/0000-0001-5208-3432"} ! acquired angioedema [Term] id: MONDO:0034641 name: obsolete rare genetic hyperkinetic movement disorder +subset: gard_rare {source="GARD:22013"} +xref: GARD:22013 {source="MONDO:obsoleteEquivalent", source="Orphanet:496916"} xref: Orphanet:496916 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -432918,6 +452240,8 @@ is_obsolete: true [Term] id: MONDO:0034661 name: obsolete syndromic biliary atresia +subset: gard_rare {source="GARD:22019"} +xref: GARD:22019 {source="MONDO:obsoleteEquivalent", source="Orphanet:498350"} xref: Orphanet:498350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432938,6 +452262,8 @@ replaced_by: MONDO:0800092 [Term] id: MONDO:0034667 name: obsolete longitudinal limb defect +subset: gard_rare {source="GARD:22024"} +xref: GARD:22024 {source="MONDO:obsoleteEquivalent", source="Orphanet:498457"} xref: Orphanet:498457 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -432946,6 +452272,8 @@ is_obsolete: true [Term] id: MONDO:0034668 name: obsolete terminal transverse limb defect +subset: gard_rare {source="GARD:22025"} +xref: GARD:22025 {source="MONDO:obsoleteEquivalent", source="Orphanet:498461"} xref: Orphanet:498461 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -432954,6 +452282,8 @@ is_obsolete: true [Term] id: MONDO:0034669 name: obsolete non-syndromic preaxial polydactyly +subset: gard_rare {source="GARD:22026"} +xref: GARD:22026 {source="Orphanet:498464", source="MONDO:obsoleteEquivalent"} xref: Orphanet:498464 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432965,6 +452295,8 @@ is_obsolete: true [Term] id: MONDO:0034670 name: obsolete non-syndromic postaxial polydactyly +subset: gard_rare {source="GARD:22027"} +xref: GARD:22027 {source="MONDO:obsoleteEquivalent", source="Orphanet:498467"} xref: Orphanet:498467 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432976,6 +452308,8 @@ is_obsolete: true [Term] id: MONDO:0034671 name: obsolete non-syndromic complex polydactyly +subset: gard_rare {source="GARD:22028"} +xref: GARD:22028 {source="MONDO:obsoleteEquivalent", source="Orphanet:498470"} xref: Orphanet:498470 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432996,7 +452330,9 @@ replaced_by: MONDO:0800090 id: MONDO:0034676 name: overgrowth syndrome with 2q37 translocation def: "A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported." [Orphanet:498488] +subset: gard_rare {source="GARD:22032"} subset: ordo_disorder +xref: GARD:22032 {source="Orphanet:498488"} xref: Orphanet:498488 {source="MONDO:equivalentTo"} is_a: MONDO:0019716 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! overgrowth syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -433005,6 +452341,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0034678 name: obsolete mirror-image polydactyly def: "OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]" [Orphanet:498494] +subset: gard_rare {source="GARD:22034"} +xref: GARD:22034 {source="MONDO:obsoleteEquivalent", source="Orphanet:498494"} xref: Orphanet:498494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -433014,6 +452352,8 @@ is_obsolete: true id: MONDO:0034733 name: obsolete cochlear nerve deficiency def: "OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]" [Orphanet:502318] +subset: gard_rare {source="GARD:22045"} +xref: GARD:22045 {source="MONDO:obsoleteEquivalent", source="Orphanet:502318"} xref: ICD10CM:H93.3 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:502318 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433024,6 +452364,8 @@ is_obsolete: true id: MONDO:0034819 name: obsolete familial intestinal malrotation def: "OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies." [Orphanet:508410] +subset: gard_rare {source="GARD:22067"} +xref: GARD:22067 {source="MONDO:obsoleteEquivalent", source="Orphanet:508410"} xref: Orphanet:508410 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -433033,9 +452375,11 @@ is_obsolete: true id: MONDO:0034820 name: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss." [Orphanet:508476] +subset: gard_rare {source="GARD:22068"} subset: ordo_disorder synonym: "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome" EXACT [Orphanet:508476] synonym: "hyaluronidase 2 deficiency" EXACT [Orphanet:508476] +xref: GARD:22068 {source="Orphanet:508476"} xref: Orphanet:508476 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5321 ! HYAL2 @@ -433044,10 +452388,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0034823 name: oral-facial-digital syndrome with short stature and brachymesophalangy def: "A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones." [Orphanet:508501] +subset: gard_rare {source="GARD:22069"} subset: ordo_disorder synonym: "OFD18" EXACT ABBREVIATION [Orphanet:508501] synonym: "oral-facial-digital syndrome type 18" EXACT [Orphanet:508501] synonym: "orofaciodigital syndrome type 18" EXACT [Orphanet:508501] +xref: GARD:22069 {source="Orphanet:508501"} xref: Orphanet:508501 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17367 ! IFT57 @@ -433056,7 +452402,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0034846 name: primary desmosis coli def: "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." [Orphanet:565641] +subset: gard_rare {source="GARD:22268"} subset: ordo_disease +xref: GARD:22268 {source="Orphanet:565641"} xref: ICD10CM:K59.9 {source="Orphanet:565641/ntbt"} xref: Orphanet:565641 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder @@ -433064,6 +452412,8 @@ is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder [Term] id: MONDO:0034872 name: obsolete large granular lymphocyte leukemia +subset: gard_rare {source="GARD:22073"} +xref: GARD:22073 {source="MONDO:obsoleteEquivalent", source="Orphanet:512034"} xref: Orphanet:512034 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433075,14 +452425,18 @@ is_obsolete: true id: MONDO:0034895 name: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome def: "A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period." [Orphanet:514352] +subset: gard_rare {source="GARD:22076"} subset: ordo_disorder synonym: "serpentine-like syndrome" EXACT [Orphanet:514352] +xref: GARD:22076 {source="Orphanet:514352"} xref: Orphanet:514352 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0034901 name: obsolete ATP13A2-related parkinsonism +subset: gard_rare {source="GARD:22077"} +xref: GARD:22077 {source="MONDO:obsoleteEquivalent", source="Orphanet:514980"} xref: Orphanet:514980 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433092,6 +452446,8 @@ is_obsolete: true [Term] id: MONDO:0034923 name: obsolete inflammatory/autoimmune disorder involving the lacrimal system +subset: gard_rare {source="GARD:22078"} +xref: GARD:22078 {source="MONDO:obsoleteEquivalent", source="Orphanet:519264"} xref: Orphanet:519264 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433101,6 +452457,8 @@ consider: MONDO:0007179 [Term] id: MONDO:0034926 name: obsolete rare disorder with entropion +subset: gard_rare {source="GARD:22081"} +xref: GARD:22081 {source="Orphanet:519270", source="MONDO:obsoleteEquivalent"} xref: Orphanet:519270 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433109,6 +452467,8 @@ is_obsolete: true [Term] id: MONDO:0034931 name: obsolete rare conjunctivitis +subset: gard_rare {source="GARD:22086"} +xref: GARD:22086 {source="MONDO:obsoleteEquivalent", source="Orphanet:519280"} xref: Orphanet:519280 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -433118,6 +452478,8 @@ consider: MONDO:0003799 [Term] id: MONDO:0034937 name: obsolete syndromic ectopia lentis +subset: gard_rare {source="GARD:22092"} +xref: GARD:22092 {source="Orphanet:519292", source="MONDO:obsoleteEquivalent"} xref: Orphanet:519292 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -433127,6 +452489,8 @@ consider: HP:0001083 [Term] id: MONDO:0034943 name: obsolete isolated vitreoretinopathy +subset: gard_rare {source="GARD:22098"} +xref: GARD:22098 {source="MONDO:obsoleteEquivalent", source="Orphanet:519304"} xref: Orphanet:519304 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -433136,6 +452500,8 @@ consider: HP:0007773 [Term] id: MONDO:0034953 name: obsolete syndromic inherited retinal disorder +subset: gard_rare {source="GARD:22108"} +xref: GARD:22108 {source="MONDO:obsoleteEquivalent", source="Orphanet:519325"} xref: Orphanet:519325 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433145,6 +452511,8 @@ consider: MONDO:0005283 [Term] id: MONDO:0034954 name: obsolete syndromic vitreoretinopathy +subset: gard_rare {source="GARD:22109"} +xref: GARD:22109 {source="MONDO:obsoleteEquivalent", source="Orphanet:519327"} xref: Orphanet:519327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433156,6 +452524,8 @@ is_obsolete: true [Term] id: MONDO:0034961 name: obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +subset: gard_rare {source="GARD:22115"} +xref: GARD:22115 {source="MONDO:obsoleteEquivalent", source="Orphanet:519341"} xref: Orphanet:519341 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433165,6 +452535,8 @@ consider: MONDO:0005560 [Term] id: MONDO:0034962 name: obsolete rare ophthalmic disorder with cortical involvement +subset: gard_rare {source="GARD:22116"} +xref: GARD:22116 {source="MONDO:obsoleteEquivalent", source="Orphanet:519343"} xref: Orphanet:519343 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433174,6 +452546,8 @@ consider: MONDO:0005328 [Term] id: MONDO:0034965 name: obsolete rare ophthalmic disorder with cranial nerve involvement +subset: gard_rare {source="GARD:22119"} +xref: GARD:22119 {source="MONDO:obsoleteEquivalent", source="Orphanet:519349"} xref: Orphanet:519349 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433183,6 +452557,8 @@ consider: MONDO:0005328 [Term] id: MONDO:0034968 name: obsolete rare ocular motility/alignment disorder +subset: gard_rare {source="GARD:22122"} +xref: GARD:22122 {source="MONDO:obsoleteEquivalent", source="Orphanet:519355"} xref: Orphanet:519355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -433193,7 +452569,9 @@ consider: MONDO:0001584 id: MONDO:0034971 name: isolated congenital entropion def: "A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge." [Orphanet:519386] +subset: gard_rare {source="GARD:22123"} subset: ordo_disorder +xref: GARD:22123 {source="Orphanet:519386"} xref: ICD10CM:Q10.2 {source="Orphanet:519386"} xref: Orphanet:519386 {source="MONDO:equivalentTo"} is_a: MONDO:0020159 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital entropion @@ -433201,7 +452579,9 @@ is_a: MONDO:0020159 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita [Term] id: MONDO:0034976 name: iatrogenic Creutzfeldt-Jakob disease +subset: gard_rare {source="GARD:22329"} subset: ordo_disease +xref: GARD:22329 {source="Orphanet:576379"} xref: Orphanet:576379 {source="MONDO:equivalentTo"} is_a: MONDO:0018686 {source="Orphanet:576379"} ! acquired Creutzfeldt-Jakob disease intersection_of: MONDO:0018686 ! acquired Creutzfeldt-Jakob disease @@ -433211,6 +452591,8 @@ intersection_of: has_characteristic MONDO:0100426 ! iatrogenic id: MONDO:0034977 name: obsolete isolated microspherophakia def: "OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma." [Orphanet:519396] +subset: gard_rare {source="GARD:22126"} +xref: GARD:22126 {source="MONDO:obsoleteEquivalent", source="Orphanet:519396"} xref: ICD10CM:Q12.4 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519396 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433222,7 +452604,9 @@ consider: HP:0030961 id: MONDO:0034978 name: isolated foveal hypoplasia def: "A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology." [Orphanet:519398] +subset: gard_rare {source="GARD:22127"} subset: ordo_disorder +xref: GARD:22127 {source="Orphanet:519398"} xref: ICD10CM:H35.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:519398"} xref: Orphanet:519398 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder @@ -433231,6 +452615,8 @@ is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal d id: MONDO:0034979 name: obsolete peripapillary staphyloma def: "OBSOLETE. A rare congenital optic disk excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disk. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]" [Orphanet:519400] +subset: gard_rare {source="GARD:22128"} +xref: GARD:22128 {source="MONDO:obsoleteEquivalent", source="Orphanet:519400"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:519400 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433241,6 +452627,8 @@ is_obsolete: true id: MONDO:0034980 name: obsolete isolated megalopapilla def: "OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disk (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disk, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla." [Orphanet:519402] +subset: gard_rare {source="GARD:22129"} +xref: GARD:22129 {source="MONDO:obsoleteEquivalent", source="Orphanet:519402"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:519402 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433251,6 +452639,8 @@ is_obsolete: true id: MONDO:0034981 name: obsolete optic disk pit def: "OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disk. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disk, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]" [Orphanet:519404] +subset: gard_rare {source="GARD:22130"} +xref: GARD:22130 {source="MONDO:obsoleteEquivalent", source="Orphanet:519404"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:519404 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433260,7 +452650,9 @@ is_obsolete: true [Term] id: MONDO:0034987 name: intraductal tubulopapillary neoplasm of pancreas +subset: gard_rare {source="GARD:22331"} subset: ordo_disease +xref: GARD:22331 {source="Orphanet:580572"} xref: Orphanet:580572 {source="MONDO:equivalentTo"} is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm @@ -433268,7 +452660,9 @@ is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm id: MONDO:0034989 name: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy." [Orphanet:508498] +subset: gard_rare {source="GARD:17948"} subset: ordo_disorder +xref: GARD:17948 {source="Orphanet:508498"} xref: Orphanet:508498 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease @@ -433276,13 +452670,17 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0034991 name: intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome def: "A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent." [Orphanet:508512] +subset: gard_rare {source="GARD:17949"} subset: ordo_disorder +xref: GARD:17949 {source="Orphanet:508512"} xref: Orphanet:508512 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0035001 name: obsolete rare disorder of the visual organs +subset: gard_rare {source="GARD:22135"} +xref: GARD:22135 {source="MONDO:obsoleteEquivalent", source="Orphanet:520814"} xref: Orphanet:520814 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -433292,6 +452690,8 @@ consider: MONDO:0021084 [Term] id: MONDO:0035002 name: obsolete isolated inherited retinal disorder +subset: gard_rare {source="GARD:22136"} +xref: GARD:22136 {source="MONDO:obsoleteEquivalent", source="Orphanet:520817"} xref: Orphanet:520817 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433303,7 +452703,9 @@ is_obsolete: true [Term] id: MONDO:0035004 name: serine biosynthesis pathway deficiency, infantile/juvenile form +subset: gard_rare {source="GARD:22334"} subset: ordo_disease +xref: GARD:22334 {source="Orphanet:583595"} xref: Orphanet:583595 {source="MONDO:equivalentTo"} is_a: MONDO:0018162 {source="Orphanet:583595"} ! neurometabolic disorder due to serine deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:583595"} ! syndromic intellectual disability @@ -433312,7 +452714,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035008 name: isolated splenic vein thrombosis +subset: gard_rare {source="GARD:22338"} subset: ordo_disease +xref: GARD:22338 {source="Orphanet:583856"} xref: Orphanet:583856 {source="MONDO:equivalentTo"} is_a: MONDO:0000831 {source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic disease is_a: MONDO:0004634 {source="https://orcid.org/0000-0001-5208-3432"} ! vein disorder @@ -433320,7 +452724,9 @@ is_a: MONDO:0004634 {source="https://orcid.org/0000-0001-5208-3432"} ! vein diso [Term] id: MONDO:0035009 name: isolated mesenteric vein thrombosis +subset: gard_rare {source="GARD:22339"} subset: ordo_disease +xref: GARD:22339 {source="Orphanet:583861"} xref: Orphanet:583861 {source="MONDO:equivalentTo"} is_a: MONDO:0000831 {source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic disease is_a: MONDO:0004634 {source="https://orcid.org/0000-0001-5208-3432"} ! vein disorder @@ -433329,6 +452735,8 @@ is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder [Term] id: MONDO:0035013 name: obsolete genetic primary orthostatic disorder +subset: gard_rare {source="GARD:22140"} +xref: GARD:22140 {source="MONDO:obsoleteEquivalent", source="Orphanet:521232"} xref: Orphanet:521232 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -433337,6 +452745,8 @@ is_obsolete: true [Term] id: MONDO:0035014 name: obsolete primary orthostatic disorder +subset: gard_rare {source="GARD:22141"} +xref: GARD:22141 {source="Orphanet:521236", source="MONDO:obsoleteEquivalent"} xref: Orphanet:521236 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433347,14 +452757,18 @@ is_obsolete: true id: MONDO:0035018 name: frontonasal dysplasia-bifid nose-upper limb anomalies syndrome def: "A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis." [Orphanet:521308] +subset: gard_rare {source="GARD:22142"} subset: ordo_disorder +xref: GARD:22142 {source="Orphanet:521308"} xref: Orphanet:521308 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0035027 name: microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome +subset: gard_rare {source="GARD:22145"} subset: ordo_disorder +xref: GARD:22145 {source="Orphanet:521445"} xref: Orphanet:521445 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14632 ! ADAMTSL1 @@ -433362,6 +452776,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035037 name: obsolete rare genetic disorder of the visual organs +subset: gard_rare {source="GARD:22149"} +xref: GARD:22149 {source="MONDO:obsoleteEquivalent", source="Orphanet:522504"} xref: Orphanet:522504 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -433370,6 +452786,8 @@ is_obsolete: true [Term] id: MONDO:0035075 name: obsolete secondary early-onset glaucoma of genetic origin +subset: gard_rare {source="GARD:22186"} +xref: GARD:22186 {source="MONDO:obsoleteEquivalent", source="Orphanet:522580"} xref: Orphanet:522580 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433381,7 +452799,9 @@ is_obsolete: true id: MONDO:0035105 name: diaphragmatic hernia-short bowel-asplenia syndrome def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported." [Orphanet:527468] +subset: gard_rare {source="GARD:22193"} subset: ordo_disorder +xref: GARD:22193 {source="Orphanet:527468"} xref: Orphanet:527468 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4978 ! HLX @@ -433389,12 +452809,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035112 name: acute myeloid leukemia with BCR-ABL1 +subset: gard_rare {source="GARD:22340"} subset: ordo_disease synonym: "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" EXACT [] synonym: "AML with BCR-ABL1" EXACT [Orphanet:585867] synonym: "AML with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867] xref: DOID:0080976 {source="MONDO:equivalentTo"} +xref: GARD:22340 {source="Orphanet:585867"} xref: NCIT:C129785 {source="MONDO:equivalentTo"} xref: Orphanet:585867 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C129785", source="Orphanet:585867"} ! acute myeloid leukemia @@ -433403,7 +452825,9 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0035117 name: PUM1-associated developmental disability-ataxia-seizure syndrome +subset: gard_rare {source="GARD:22351"} subset: ordo_disease +xref: GARD:22351 {source="Orphanet:589515"} xref: Orphanet:589515 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:589515"} ! monogenic epilepsy is_a: MONDO:0019792 {source="Orphanet:589515"} ! autosomal dominant cerebellar ataxia type I @@ -433411,8 +452835,10 @@ is_a: MONDO:0019792 {source="Orphanet:589515"} ! autosomal dominant cerebellar a [Term] id: MONDO:0035121 name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement +subset: gard_rare {source="GARD:22355"} subset: ordo_disease synonym: "myeloid/lymphoid neoplasms with PCM1-JAK2" EXACT [Orphanet:589542] +xref: GARD:22355 {source="Orphanet:589542"} xref: NCIT:C129853 {source="MONDO:equivalentTo"} xref: Orphanet:589542 {source="MONDO:equivalentTo"} is_a: MONDO:0015688 {source="NCIT:C129853", source="Orphanet:589542"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 @@ -433420,7 +452846,9 @@ is_a: MONDO:0015688 {source="NCIT:C129853", source="Orphanet:589542"} ! myeloid/ [Term] id: MONDO:0035122 name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder +subset: gard_rare {source="GARD:22356"} subset: ordo_disease +xref: GARD:22356 {source="Orphanet:589547"} xref: Orphanet:589547 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:589547"} ! syndromic intellectual disability @@ -433429,7 +452857,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035124 name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies +subset: gard_rare {source="GARD:22358"} subset: ordo_disease +xref: GARD:22358 {source="Orphanet:589608"} xref: Orphanet:589608 {source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="Orphanet:589608"} ! ectodermal dysplasia syndrome is_a: MONDO:0019290 {source="Orphanet:589608"} ! hypopigmentation of the skin @@ -433437,10 +452867,12 @@ is_a: MONDO:0019290 {source="Orphanet:589608"} ! hypopigmentation of the skin [Term] id: MONDO:0035133 name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +subset: gard_rare {source="GARD:22367"} subset: ordo_disease synonym: "Chung-Jansen syndrome" EXACT [OMIM:617991, OMIM:genemap2] synonym: "developmental delay, intellectual disability, obesity, and dysmorphic features" EXACT [OMIM:617991] synonym: "DIDOD" RELATED ABBREVIATION [OMIM:617991] +xref: GARD:22367 {source="Orphanet:589905"} xref: OMIM:617991 {source="MONDO:equivalentTo"} xref: Orphanet:589905 {source="MONDO:equivalentTo"} xref: UMLS:CN248510 {source="MONDO:equivalentTo"} @@ -433455,7 +452887,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035136 name: isolated melanotic schwannoma +subset: gard_rare {source="GARD:22368"} subset: ordo_disease +xref: GARD:22368 {source="Orphanet:590539"} xref: Orphanet:590539 {source="MONDO:equivalentTo"} is_a: MONDO:0002558 {source="Orphanet:590539"} ! melanotic neurilemmoma is_a: MONDO:0016752 {source="Orphanet:590539"} ! benign peripheral nerve sheath tumor @@ -433464,8 +452898,10 @@ is_a: MONDO:0018078 {source="Orphanet:590539"} ! soft tissue sarcoma [Term] id: MONDO:0035149 name: secondary erythromelalgia +subset: gard_rare {source="GARD:22201"} subset: ordo_disorder synonym: "Secondary erythermalgia" EXACT [Orphanet:529864] +xref: GARD:22201 {source="Orphanet:529864"} xref: ICD10CM:I73.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:529864"} xref: Orphanet:529864 {source="MONDO:equivalentTo"} is_a: MONDO:0016028 {source="https://orcid.org/0000-0001-5208-3432"} ! erythromelalgia @@ -433474,8 +452910,10 @@ is_a: MONDO:0016028 {source="https://orcid.org/0000-0001-5208-3432"} ! erythrome id: MONDO:0035151 name: 17q24.2 microdeletion syndrome def: "A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders." [Orphanet:529962] +subset: gard_rare {source="GARD:22202"} subset: ordo_disorder synonym: "Del(17)(q24)" EXACT [Orphanet:529962] +xref: GARD:22202 {source="Orphanet:529962"} xref: Orphanet:529962 {source="MONDO:equivalentTo"} is_a: MONDO:0016915 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 17 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -433484,9 +452922,11 @@ intersection_of: disease_arises_from_structure CHR:9606-chr17q24.2 ! 17q24.2 (Hu [Term] id: MONDO:0035153 name: male infertility due to acephalic spermatozoa +subset: gard_rare {source="GARD:17971"} subset: ordo_subtype_of_a_disorder synonym: "Acephalic spermatozoa syndrome" EXACT [Orphanet:529970] xref: DOID:0112311 {source="MONDO:equivalentTo"} +xref: GARD:17971 {source="Orphanet:529970"} xref: ICD10CM:N46 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:529970"} xref: Orphanet:529970 {source="MONDO:equivalentTo"} is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility @@ -433495,8 +452935,10 @@ is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infe id: MONDO:0035159 name: dermoid or epidermoid cyst of the central nervous system def: "A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis." [Orphanet:530033] +subset: gard_rare {source="GARD:22206"} subset: ordo_disorder synonym: "Dermoid or epidermoid cyst of the CNS" EXACT [Orphanet:530033] +xref: GARD:22206 {source="Orphanet:530033"} xref: ICD10CM:Q07.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530033"} xref: Orphanet:530033 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neoplasm @@ -433504,6 +452946,7 @@ is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035160 name: obsolete progressive myoclonic epilepsy with neuroserpin inclusion bodies +xref: GARD:22207 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI is_obsolete: true @@ -433512,8 +452955,10 @@ replaced_by: MONDO:0012391 [Term] id: MONDO:0035161 name: progressive dementia with neuroserpin inclusion bodies +subset: gard_rare {source="GARD:22208"} subset: ordo_subtype_of_a_disorder synonym: "late-onset familial encephalopathy with neuroserpin inclusion bodies" EXACT [Orphanet:530303] +xref: GARD:22208 {source="Orphanet:530303"} xref: ICD10CM:G40.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530303"} xref: Orphanet:530303 {source="MONDO:equivalentTo"} is_a: MONDO:0001627 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! dementia @@ -433522,7 +452967,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035162 name: obsolete PIK3CA-related overgrowth syndrome +subset: gard_rare {source="GARD:22209"} synonym: "PROS" EXACT ABBREVIATION [Orphanet:530313] +xref: GARD:22209 {source="MONDO:obsoleteEquivalent", source="Orphanet:530313"} xref: Orphanet:530313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433533,7 +452980,9 @@ is_obsolete: true id: MONDO:0035173 name: 9q21.13 microdeletion syndrome def: "A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus." [Orphanet:531151] +subset: gard_rare {source="GARD:22212"} subset: ordo_disorder +xref: GARD:22212 {source="Orphanet:531151"} xref: ICD10CM:F78.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:531151"} xref: Orphanet:531151 {source="MONDO:equivalentTo"} is_a: MONDO:0016874 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of chromosome 9 @@ -433543,8 +452992,10 @@ intersection_of: disease_arises_from_structure CHR:9606-chr9q21.13 ! 9q21.13 (Hu [Term] id: MONDO:0035220 name: PLG-related hereditary angioedema with normal C1inh +subset: gard_rare {source="GARD:22217"} subset: ordo_subtype_of_a_disorder synonym: "PLG-related HAE with normal C1 inhibitor" EXACT [Orphanet:537072] +xref: GARD:22217 {source="Orphanet:537072"} xref: ICD10CM:D84.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:537072"} xref: Orphanet:537072 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -433559,8 +453010,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0035235 name: classic pyoderma gangrenosum def: "A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated." [Orphanet:538863] +subset: gard_rare {source="GARD:22220"} subset: ordo_subtype_of_a_disorder synonym: "Ulcerative pyoderma gangrenosum" EXACT [Orphanet:538863] +xref: GARD:22220 {source="Orphanet:538863"} xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538863"} xref: Orphanet:538863 {source="MONDO:equivalentTo"} is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum @@ -433569,7 +453022,9 @@ is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035236 name: pustular pyoderma gangrenosum def: "A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease." [Orphanet:538866] +subset: gard_rare {source="GARD:22221"} subset: ordo_subtype_of_a_disorder +xref: GARD:22221 {source="Orphanet:538866"} xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538866"} xref: Orphanet:538866 {source="MONDO:equivalentTo"} is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum @@ -433578,8 +453033,10 @@ is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035237 name: bullous pyoderma gangrenosum def: "A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised." [Orphanet:538869] +subset: gard_rare {source="GARD:22222"} subset: ordo_subtype_of_a_disorder synonym: "Phemphigoid pyoderma gangrenosum" EXACT [Orphanet:538869] +xref: GARD:22222 {source="Orphanet:538869"} xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538869"} xref: Orphanet:538869 {source="MONDO:equivalentTo"} is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum @@ -433588,8 +453045,10 @@ is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035238 name: vegetative pyoderma gangrenosum def: "A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum." [Orphanet:538872] +subset: gard_rare {source="GARD:22223"} subset: ordo_subtype_of_a_disorder synonym: "Granulomatous pyoderma gangrenosum" EXACT [Orphanet:538872] +xref: GARD:22223 {source="Orphanet:538872"} xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538872"} xref: Orphanet:538872 {source="MONDO:equivalentTo"} is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum @@ -433598,6 +453057,8 @@ is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035249 name: obsolete anomalous aortic origin of the left coronary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]" [Orphanet:541443] +subset: gard_rare {source="GARD:22224"} +xref: GARD:22224 {source="Orphanet:541443", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433608,6 +453069,8 @@ is_obsolete: true id: MONDO:0035250 name: obsolete anomalous aortic origin of the right coronary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]" [Orphanet:541454] +subset: gard_rare {source="GARD:22225"} +xref: GARD:22225 {source="Orphanet:541454", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541454 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433618,6 +453081,8 @@ is_obsolete: true id: MONDO:0035251 name: obsolete anomalous aortic origin of coronary artery def: "OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]" [Orphanet:541478] +subset: gard_rare {source="GARD:22226"} +xref: GARD:22226 {source="MONDO:obsoleteEquivalent", source="Orphanet:541478"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541478 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433628,6 +453093,8 @@ is_obsolete: true id: MONDO:0035252 name: obsolete anomalous origin of coronary artery from the pulmonary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]" [Orphanet:541507] +subset: gard_rare {source="GARD:22227"} +xref: GARD:22227 {source="MONDO:obsoleteEquivalent", source="Orphanet:541507"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541507 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433638,6 +453105,8 @@ is_obsolete: true id: MONDO:0035267 name: obsolete quadricuspid aortic valve def: "OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]" [Orphanet:542568] +subset: gard_rare {source="GARD:22229"} +xref: GARD:22229 {source="MONDO:obsoleteEquivalent", source="Orphanet:542568"} xref: Orphanet:542568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -433647,6 +453116,8 @@ is_obsolete: true id: MONDO:0035274 name: obsolete anomaly of the coronary ostia def: "OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]" [Orphanet:542822] +subset: gard_rare {source="GARD:22230"} +xref: GARD:22230 {source="MONDO:obsoleteEquivalent", source="Orphanet:542822"} xref: Orphanet:542822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -433655,9 +453126,11 @@ is_obsolete: true [Term] id: MONDO:0035290 name: atypical hemolytic uremic syndrome with complement gene abnormality +subset: gard_rare {source="GARD:17986"} subset: ordo_subtype_of_a_disorder synonym: "aHUS with complement gene abnormality" EXACT [Orphanet:544472] synonym: "Atypical HUS with complement gene abnormality" EXACT [Orphanet:544472] +xref: GARD:17986 {source="Orphanet:544472"} xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544472"} xref: Orphanet:544472 {source="MONDO:equivalentTo"} is_a: MONDO:0016244 {source="Orphanet:544472"} ! atypical hemolytic-uremic syndrome @@ -433665,9 +453138,11 @@ is_a: MONDO:0016244 {source="Orphanet:544472"} ! atypical hemolytic-uremic syndr [Term] id: MONDO:0035293 name: streptococcus pneumoniae-associated hemolytic uremic syndrome +subset: gard_rare {source="GARD:22235"} subset: ordo_subtype_of_a_disorder synonym: "S. pneumoniae-associated HUS" EXACT [Orphanet:544493] synonym: "SP-HUS" EXACT [Orphanet:544493] +xref: GARD:22235 {source="Orphanet:544493"} xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544493"} xref: Orphanet:544493 {source="MONDO:equivalentTo"} is_a: MONDO:0034103 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! infection-related hemolytic uremic syndrome @@ -433676,7 +453151,9 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0035295 name: congenital primary megaureter, refluxing and obstructed form +subset: gard_rare {source="GARD:22236"} subset: ordo_subtype_of_a_disorder +xref: GARD:22236 {source="Orphanet:544578"} xref: ICD10CM:Q62.2 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544578"} xref: Orphanet:544578 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital primary megaureter @@ -433685,7 +453162,9 @@ is_a: MONDO:0018960 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035312 name: fibrohistiocytic inflammatory pseudotumor of the liver def: "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding." [Orphanet:555434] +subset: gard_rare {source="GARD:22239"} subset: ordo_subtype_of_a_disorder +xref: GARD:22239 {source="Orphanet:555434"} xref: ICD10CM:K75.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:555434"} xref: Orphanet:555434 {source="MONDO:equivalentTo"} is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm @@ -433694,8 +453173,10 @@ is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001- id: MONDO:0035313 name: lymphoplasmacytic inflammatory pseudotumor of the liver def: "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding." [Orphanet:555437] +subset: gard_rare {source="GARD:22240"} subset: ordo_subtype_of_a_disorder synonym: "IgG4-related inflammatory pseudotumor of the liver" EXACT [Orphanet:555437] +xref: GARD:22240 {source="Orphanet:555437"} xref: ICD10CM:K75.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:555437"} xref: Orphanet:555437 {source="MONDO:equivalentTo"} is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm @@ -433704,6 +453185,8 @@ is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001- id: MONDO:0035314 name: obsolete congenital tricuspid valve dysplasia def: "OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]" [Orphanet:555874] +subset: gard_rare {source="GARD:22241"} +xref: GARD:22241 {source="Orphanet:555874", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q22.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:555874 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -433715,9 +453198,11 @@ consider: HP:0030732 id: MONDO:0035320 name: early-onset familial hypoaldosteronism def: "A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low." [Orphanet:556030] +subset: gard_rare {source="GARD:22243"} subset: ordo_subtype_of_a_disorder synonym: "Early-onset familial hyperreninemic hypoaldosteronism" EXACT [Orphanet:556030] synonym: "Severe aldosterone synthase deficiency" EXACT [Orphanet:556030] +xref: GARD:22243 {source="Orphanet:556030"} xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:556030"} xref: Orphanet:556030 {source="MONDO:equivalentTo"} is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism @@ -433727,9 +453212,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035321 name: late-onset familial hypoaldosteronism def: "A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening." [Orphanet:556037] +subset: gard_rare {source="GARD:22244"} subset: ordo_subtype_of_a_disorder synonym: "Late-onset familial hyperreninemic hypoaldosteronism" EXACT [Orphanet:556037] synonym: "Mild aldosterone synthase deficiency" EXACT [Orphanet:556037] +xref: GARD:22244 {source="Orphanet:556037"} xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:556037"} xref: Orphanet:556037 {source="MONDO:equivalentTo"} is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism @@ -433737,6 +453224,8 @@ is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035328 name: obsolete rare disorder due to poisoning +subset: gard_rare {source="GARD:22245"} +xref: GARD:22245 {source="MONDO:obsoleteEquivalent", source="Orphanet:556508"} xref: Orphanet:556508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433747,12 +453236,14 @@ consider: MONDO:0029000 id: MONDO:0035337 name: Duane retraction syndrome with congenital deafness def: "A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome." [Orphanet:529574] +subset: gard_rare {source="GARD:17968"} subset: ordo_disorder synonym: "DRS with deafness" EXACT [Orphanet:529574] synonym: "DRS with hearing loss" EXACT [Orphanet:529574] synonym: "Duane retraction syndrome with congenital hearing loss" EXACT [Orphanet:529574] synonym: "DURS with deafness" EXACT [Orphanet:529574] synonym: "DURS with hearing loss" EXACT [Orphanet:529574] +xref: GARD:17968 {source="Orphanet:529574"} xref: ICD10CM:H50.8 {source="Orphanet:529574"} xref: Orphanet:529574 {source="MONDO:equivalentTo"} is_a: MONDO:0007473 {source="https://orcid.org/0000-0001-5208-3432"} ! Duane retraction syndrome @@ -433760,6 +453251,8 @@ is_a: MONDO:0007473 {source="https://orcid.org/0000-0001-5208-3432"} ! Duane ret [Term] id: MONDO:0035340 name: obsolete rare disorder with hirschsprung disease as a major feature +subset: gard_rare {source="GARD:22248"} +xref: GARD:22248 {source="Orphanet:557866", source="MONDO:obsoleteEquivalent"} xref: Orphanet:557866 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -433769,9 +453262,11 @@ is_obsolete: true id: MONDO:0035344 name: acute bilirubin encephalopathy def: "A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome." [Orphanet:529799] +subset: gard_rare {source="GARD:22197"} subset: ordo_disorder synonym: "ABE" EXACT [Orphanet:529799] synonym: "Acute kernicterus" EXACT [Orphanet:529799] +xref: GARD:22197 {source="Orphanet:529799"} xref: ICD10CM:P57.8 {source="Orphanet:529799"} xref: Orphanet:529799 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -433781,12 +453276,14 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0035345 name: chronic bilirubin encephalopathy def: "A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities." [Orphanet:529808] +subset: gard_rare {source="GARD:22198"} subset: ordo_disorder synonym: "Bilirubin-induced neurological dysfunction" EXACT [Orphanet:529808] synonym: "BIND" EXACT [Orphanet:529808] synonym: "CBE" EXACT [Orphanet:529808] synonym: "Kernicterus spectrum disorder" EXACT [Orphanet:529808] synonym: "KSD" EXACT [Orphanet:529808] +xref: GARD:22198 {source="Orphanet:529808"} xref: ICD10CM:P57.8 {source="Orphanet:529808"} xref: Orphanet:529808 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -433795,16 +453292,20 @@ is_a: MONDO:0005560 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035349 name: localized dystrophic epidermolysis bullosa def: "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance." [Orphanet:595356] +subset: gard_rare {source="GARD:22388"} subset: ordo_disease synonym: "localised DEB" EXACT OMO:0003005 [] synonym: "localized DEB" EXACT [Orphanet:595356] +xref: GARD:22388 {source="Orphanet:595356"} xref: Orphanet:595356 {source="MONDO:equivalentTo"} is_a: MONDO:0006543 {source="Orphanet:595356"} ! epidermolysis bullosa dystrophica [Term] id: MONDO:0035350 name: letrozole toxicity +subset: gard_rare {source="GARD:22199"} subset: ordo_disorder +xref: GARD:22199 {source="Orphanet:529831"} xref: Orphanet:529831 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning @@ -433819,8 +453320,10 @@ replaced_by: MONDO:0017287 [Term] id: MONDO:0035357 name: portosinusoidal vascular disease +subset: gard_rare {source="GARD:22393"} subset: ordo_disease synonym: "PSVD" EXACT ABBREVIATION [Orphanet:596937] +xref: GARD:22393 {source="Orphanet:596937"} xref: ICD10CM:K76.8 {source="Orphanet:596937/ntbt", source="Orphanet:596937"} xref: Orphanet:596937 {source="MONDO:equivalentTo"} is_a: MONDO:0002405 {source="Orphanet:596937", source="https://orcid.org/0000-0001-5208-3432"} ! hepatic vascular disorder @@ -433830,8 +453333,10 @@ id: MONDO:0035362 name: TRIM22-related inflammatory bowel disease def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene." [MONDO:patterns/disease_series_by_gene, PMID:26836588] comment: This was considered for obsoletion but upon further review it seems like a valid disease. +subset: gard_rare {source="GARD:22395"} subset: ordo_disease synonym: "TRIM22-related IBD" EXACT [Orphanet:597201] +xref: GARD:22395 {source="Orphanet:597201"} xref: Orphanet:597201 {source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="Orphanet:597201", source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory bowel disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3540" xsd:anyURI @@ -433856,7 +453361,9 @@ replaced_by: MONDO:0032705 id: MONDO:0035370 name: ALPI-related inflammatory bowel disease def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene." [MONDO:patterns/disease_series_by_gene, PMID:29567797] +subset: gard_rare {source="GARD:22400"} subset: ordo_disease +xref: GARD:22400 {source="Orphanet:597887"} xref: Orphanet:597887 {source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory bowel disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3543" xsd:anyURI @@ -433864,8 +453371,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035375 name: multisystem inflammatory syndrome in children and adults +subset: gard_rare {source="GARD:22403"} subset: ordo_disease synonym: "MIS-C/A" EXACT ABBREVIATION [Orphanet:598363] +xref: GARD:22403 {source="Orphanet:598363"} xref: Orphanet:598363 {source="MONDO:equivalentTo"} is_a: MONDO:0100320 {source="https://orcid.org/0000-0001-5208-3432"} ! post-COVID-19 disorder @@ -433873,8 +453382,10 @@ is_a: MONDO:0100320 {source="https://orcid.org/0000-0001-5208-3432"} ! post-COVI id: MONDO:0035383 name: FOXG1 syndrome def: "A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum." [Orphanet:561854] +subset: gard_rare {source="GARD:12825"} subset: ordo_disorder synonym: "FOXG1-related epileptic-dyskinetic encephalopathy" EXACT [Orphanet:561854] +xref: GARD:12825 {source="Orphanet:561854"} xref: ICD10CM:F84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:561854"} xref: Orphanet:561854 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder @@ -433883,8 +453394,10 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous s id: MONDO:0035398 name: obsolete hypomyelination of early myelinating structures comment: Reason: is a phenotype and not a disease. +subset: gard_rare {source="GARD:22405"} subset: ordo_disease synonym: "HEMS" EXACT ABBREVIATION [Orphanet:599376] +xref: GARD:22405 {source="MONDO:obsoleteEquivalent", source="Orphanet:599376"} xref: Orphanet:599376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3544" xsd:anyURI @@ -433895,9 +453408,11 @@ consider: HP:0003429 id: MONDO:0035400 name: seronegative autoimmune hepatitis def: "A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed." [Orphanet:563589] +subset: gard_rare {source="GARD:22253"} subset: ordo_subtype_of_a_disorder synonym: "autoantibody-negative autoimmune hepatitis" EXACT [Orphanet:563589] synonym: "Seronegative AIH" EXACT [Orphanet:563589] +xref: GARD:22253 {source="Orphanet:563589"} xref: ICD10CM:K75.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563589"} xref: Orphanet:563589 {source="MONDO:equivalentTo"} is_a: MONDO:0016264 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoimmune hepatitis @@ -433905,7 +453420,9 @@ is_a: MONDO:0016264 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035401 name: isolated anencephaly +subset: gard_rare {source="GARD:22254"} subset: ordo_subtype_of_a_disorder +xref: GARD:22254 {source="Orphanet:563609"} xref: ICD10CM:Q00.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563609"} xref: Orphanet:563609 {source="MONDO:equivalentTo"} is_a: MONDO:0000819 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anencephaly @@ -433913,7 +453430,9 @@ is_a: MONDO:0000819 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035402 name: isolated exencephaly +subset: gard_rare {source="GARD:22255"} subset: ordo_subtype_of_a_disorder +xref: GARD:22255 {source="Orphanet:563612"} xref: ICD10CM:Q00.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563612"} xref: Orphanet:563612 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital nervous system disorder @@ -433921,8 +453440,10 @@ is_a: MONDO:0002320 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035403 name: serous cystadenoma of childhood +subset: gard_rare {source="GARD:22256"} subset: ordo_subtype_of_a_disorder synonym: "Serous cystadenoma of ovary in childhood" EXACT [Orphanet:563666] +xref: GARD:22256 {source="Orphanet:563666"} xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563666"} xref: Orphanet:563666 {source="MONDO:equivalentTo"} is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood @@ -433930,8 +453451,10 @@ is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035404 name: mucinous cystadenoma of childhood +subset: gard_rare {source="GARD:22257"} subset: ordo_subtype_of_a_disorder synonym: "Mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:563671] +xref: GARD:22257 {source="Orphanet:563671"} xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563671"} xref: Orphanet:563671 {source="MONDO:equivalentTo"} is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood @@ -433939,8 +453462,10 @@ is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035405 name: seromucinous cystadenoma of childhood +subset: gard_rare {source="GARD:22258"} subset: ordo_subtype_of_a_disorder synonym: "Seromucinous cystadenoma of ovary in childhood" EXACT [Orphanet:563676] +xref: GARD:22258 {source="Orphanet:563676"} xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563676"} xref: Orphanet:563676 {source="MONDO:equivalentTo"} is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood @@ -433948,9 +453473,11 @@ is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035406 name: furuncular myiasis due to Dermatobia hominis +subset: gard_rare {source="GARD:22259"} subset: ordo_subtype_of_a_disorder synonym: "furunculoid myiasis due to Dermatobia hominis" EXACT [Orphanet:563684] synonym: "furunculous myiasis due to Dermatobia hominis" EXACT [Orphanet:563684] +xref: GARD:22259 {source="Orphanet:563684"} xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563684"} xref: Orphanet:563684 {source="MONDO:equivalentTo"} is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis @@ -433958,9 +453485,11 @@ is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035407 name: furuncular myiasis due to Cordylobia anthropophaga +subset: gard_rare {source="GARD:22260"} subset: ordo_subtype_of_a_disorder synonym: "furunculoid myiasis due to Cordylobia anthropophaga" EXACT [Orphanet:563687] synonym: "furunculous myiasis due to Cordylobia anthropophaga" EXACT [Orphanet:563687] +xref: GARD:22260 {source="Orphanet:563687"} xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563687"} xref: Orphanet:563687 {source="MONDO:equivalentTo"} is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis @@ -433968,9 +453497,11 @@ is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035408 name: furuncular myiasis due to Cordylobia rodhaini +subset: gard_rare {source="GARD:22261"} subset: ordo_subtype_of_a_disorder synonym: "furunculoid myiasis due to Cordylobia rodhaini" EXACT [Orphanet:563690] synonym: "furunculous myiasis due to Cordylobia rodhaini" EXACT [Orphanet:563690] +xref: GARD:22261 {source="Orphanet:563690"} xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563690"} xref: Orphanet:563690 {source="MONDO:equivalentTo"} is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis @@ -433978,7 +453509,9 @@ is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035410 name: isolated congenital aglossia +subset: gard_rare {source="GARD:22263"} subset: ordo_subtype_of_a_disorder +xref: GARD:22263 {source="Orphanet:563951"} xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563951"} xref: Orphanet:563951 {source="MONDO:equivalentTo"} is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia @@ -433986,7 +453519,9 @@ is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035411 name: isolated congenital hypoglossia +subset: gard_rare {source="GARD:22264"} subset: ordo_subtype_of_a_disorder +xref: GARD:22264 {source="Orphanet:563954"} xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563954"} xref: Orphanet:563954 {source="MONDO:equivalentTo"} is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia @@ -433994,9 +453529,11 @@ is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035423 name: triglyceride deposit cardiomyovasculopathy +subset: gard_rare {source="GARD:22267"} subset: ordo_disorder synonym: "Neutral lipid storage disease with severe cardiovascular involvement" EXACT [Orphanet:565612] synonym: "TGCV" EXACT [Orphanet:565612] +xref: GARD:22267 {source="Orphanet:565612"} xref: ICD10CM:E75.5 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565612"} xref: Orphanet:565612 {source="MONDO:equivalentTo"} is_a: MONDO:0015611 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neutral lipid storage disease @@ -434005,6 +453542,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035426 name: obsolete rare disorder potentially indicated for transplant or complication after transplantation +subset: gard_rare {source="GARD:22536"} +xref: GARD:22536 {source="MONDO:obsoleteEquivalent", source="Orphanet:565779"} xref: Orphanet:565779 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -434013,11 +453552,13 @@ is_obsolete: true [Term] id: MONDO:0035432 name: POMGNT2-related limb-girdle muscular dystrophy R24 +subset: gard_rare {source="GARD:22271"} subset: ordo_disorder synonym: "LGMD type R24" EXACT [Orphanet:565899] synonym: "limb-girdle muscular dystrophy type R24" EXACT [Orphanet:565899] synonym: "POMGNT2-related LGMD R24" EXACT [Orphanet:565899] synonym: "POMGNT2-related muscular dystrophy" EXACT [Orphanet:565899] +xref: GARD:22271 {source="Orphanet:565899"} xref: ICD10CM:G71.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565899"} xref: Orphanet:565899 {source="MONDO:equivalentTo"} is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! limb-girdle muscular dystrophy @@ -434025,11 +453566,13 @@ is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035433 name: calpain-3-related limb-girdle muscular dystrophy D4 +subset: gard_rare {source="GARD:22272"} subset: ordo_disorder synonym: "calpain-3-related LGMD D4" EXACT [Orphanet:565909] synonym: "LGMD type D4" EXACT [Orphanet:565909] synonym: "LGMD1I" EXACT [Orphanet:565909] synonym: "limb-girdle muscular dystrophy type D4" EXACT [Orphanet:565909] +xref: GARD:22272 {source="Orphanet:565909"} xref: ICD10CM:G71.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565909"} xref: Orphanet:565909 {source="MONDO:equivalentTo"} is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! limb-girdle muscular dystrophy @@ -434038,8 +453581,10 @@ is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035437 name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome def: "A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported." [Orphanet:566067] +subset: gard_rare {source="GARD:22273"} subset: ordo_disorder synonym: "CAIN" EXACT ABBREVIATION [Orphanet:566067] +xref: GARD:22273 {source="Orphanet:566067"} xref: ICD10CM:D89.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566067"} xref: Orphanet:566067 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome @@ -434049,8 +453594,10 @@ relationship: RO:0004001 http://identifiers.org/hgnc/1836 ! has material basis i id: MONDO:0035441 name: congenital autosomal recessive small-platelet thrombocytopenia def: "A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections." [Orphanet:566192] +subset: gard_rare {source="GARD:22274"} subset: ordo_disorder synonym: "CARST" EXACT [Orphanet:566192] +xref: GARD:22274 {source="Orphanet:566192"} xref: ICD10CM:D69.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566192"} xref: Orphanet:566192 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -434064,8 +453611,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0035444 name: acute mast cell leukemia def: "A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor." [Orphanet:566393] +subset: gard_rare {source="GARD:22276"} subset: ordo_subtype_of_a_disorder synonym: "Acute MCL" EXACT [Orphanet:566393] +xref: GARD:22276 {source="Orphanet:566393"} xref: ICD10CM:C94.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566393"} xref: Orphanet:566393 {source="MONDO:equivalentTo"} is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis @@ -434076,8 +453625,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035445 name: chronic mast cell leukemia def: "A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress." [Orphanet:566396] +subset: gard_rare {source="GARD:22277"} subset: ordo_subtype_of_a_disorder synonym: "Chronic MCL" EXACT [Orphanet:566396] +xref: GARD:22277 {source="Orphanet:566396"} xref: ICD10CM:C94.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566396"} xref: Orphanet:566396 {source="MONDO:equivalentTo"} is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis @@ -434087,8 +453638,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035447 name: liver adenomatosis def: "A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases." [Orphanet:566841] +subset: gard_rare {source="GARD:22278"} subset: ordo_disorder synonym: "Hepatic adenomatosis" EXACT [Orphanet:566841] +xref: GARD:22278 {source="Orphanet:566841"} xref: ICD10CM:D13.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566841"} xref: Orphanet:566841 {source="MONDO:equivalentTo"} is_a: MONDO:0024477 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm @@ -434097,6 +453650,8 @@ is_a: MONDO:0024477 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035448 name: obsolete aprosencephaly/atelencephaly spectrum def: "OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]" [Orphanet:566847] +subset: gard_rare {source="GARD:22279"} +xref: GARD:22279 {source="MONDO:obsoleteEquivalent", source="Orphanet:566847"} xref: Orphanet:566847 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434105,8 +453660,10 @@ is_obsolete: true [Term] id: MONDO:0035449 name: atelencephaly +subset: gard_rare {source="GARD:22280"} subset: ordo_subtype_of_a_disorder synonym: "atelencephalic microcephaly" EXACT [Orphanet:566852] +xref: GARD:22280 {source="Orphanet:566852"} xref: Orphanet:566852 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -434115,7 +453672,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035450 name: aprosencephaly +subset: gard_rare {source="GARD:22281"} subset: ordo_subtype_of_a_disorder +xref: GARD:22281 {source="Orphanet:566857"} xref: NCIT:C98824 {source="MONDO:equivalentTo"} xref: Orphanet:566857 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -434125,6 +453684,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035451 name: obsolete left sided atrial isomerism +subset: gard_rare {source="GARD:22282"} +xref: GARD:22282 {source="Orphanet:566862", source="MONDO:obsoleteEquivalent"} xref: Orphanet:566862 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434135,18 +453696,22 @@ consider: HP:0011537 id: MONDO:0035452 name: mueller-weiss syndrome def: "A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures." [Orphanet:566943] +subset: gard_rare {source="GARD:22283"} subset: ordo_disorder synonym: "Brailsford disease" EXACT [Orphanet:566943] synonym: "Mueller-Weiss osteonecrosis of the tarsal bone" EXACT [Orphanet:566943] +xref: GARD:22283 {source="Orphanet:566943"} xref: Orphanet:566943 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder [Term] id: MONDO:0035454 name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome +subset: gard_rare {source="GARD:22284"} subset: ordo_disorder synonym: "BILU syndrome" EXACT [Orphanet:567502] synonym: "Hoffman syndrome" EXACT [Orphanet:567502] +xref: GARD:22284 {source="Orphanet:567502"} xref: Orphanet:567502 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11990 ! TOP2B @@ -434154,7 +453719,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035459 name: idiopathic multidrug-resistant nephrotic syndrome +subset: gard_rare {source="GARD:22287"} subset: ordo_subtype_of_a_disorder +xref: GARD:22287 {source="Orphanet:567550"} xref: ICD10CM:N04.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:567550"} xref: Orphanet:567550 {source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic nephrotic syndrome @@ -434163,8 +453730,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035460 name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy +subset: gard_rare {source="GARD:22288"} subset: ordo_subtype_of_a_disorder synonym: "idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression" EXACT [Orphanet:567552] +xref: GARD:22288 {source="Orphanet:567552"} xref: ICD10CM:N04.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:567552"} xref: Orphanet:567552 {source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic nephrotic syndrome @@ -434172,6 +453741,8 @@ is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035461 name: obsolete systemic disease with glomerulopathy as a major feature +subset: gard_rare {source="GARD:22289"} +xref: GARD:22289 {source="Orphanet:567554", source="MONDO:obsoleteEquivalent"} xref: Orphanet:567554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -434180,6 +453751,8 @@ is_obsolete: true [Term] id: MONDO:0035466 name: obsolete nephrotic syndrome without extrarenal manifestations +subset: gard_rare {source="GARD:22294"} +xref: GARD:22294 {source="MONDO:obsoleteEquivalent", source="Orphanet:567564"} xref: Orphanet:567564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -434189,6 +453762,8 @@ consider: MONDO:0005377 [Term] id: MONDO:0035469 name: obsolete primary lymphedema without systemic or visceral involvement +subset: gard_rare {source="GARD:22296"} +xref: GARD:22296 {source="MONDO:obsoleteEquivalent", source="Orphanet:568041"} xref: Orphanet:568041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -434198,6 +453773,8 @@ consider: MONDO:0019175 [Term] id: MONDO:0035470 name: obsolete primary lymphedema with systemic or visceral involvement +subset: gard_rare {source="GARD:22297"} +xref: GARD:22297 {source="MONDO:obsoleteEquivalent", source="Orphanet:568044"} xref: Orphanet:568044 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -434207,6 +453784,8 @@ consider: MONDO:0019175 [Term] id: MONDO:0035471 name: obsolete disorder with multisystemic involvement and primary lymphedema +subset: gard_rare {source="GARD:22298"} +xref: GARD:22298 {source="MONDO:obsoleteEquivalent", source="Orphanet:568047"} xref: Orphanet:568047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -434216,7 +453795,9 @@ is_obsolete: true id: MONDO:0035472 name: GJC2-related late-onset primary lymphedema def: "A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association." [Orphanet:568051] +subset: gard_rare {source="GARD:22299"} subset: ordo_disorder +xref: GARD:22299 {source="Orphanet:568051"} xref: Orphanet:568051 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema @@ -434224,9 +453805,11 @@ is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035473 name: warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome def: "A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported." [Orphanet:568056] +subset: gard_rare {source="GARD:22300"} subset: ordo_disorder synonym: "disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome" EXACT [Orphanet:568056] synonym: "WILD syndrome" EXACT [Orphanet:568056] +xref: GARD:22300 {source="Orphanet:568056"} xref: Orphanet:568056 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema @@ -434235,6 +453818,7 @@ is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035474 name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis def: "A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent." [Orphanet:568062] +subset: gard_rare {source="GARD:22301"} subset: ordo_disorder synonym: "generalised lymphatic dysplasia of Fotiou" EXACT OMO:0003005 [] synonym: "generalized lymphatic dysplasia of Fotiou" EXACT [Orphanet:568062] @@ -434242,6 +453826,7 @@ synonym: "PIEZO1-related generalised lymphatic dysplasia with systemic involveme synonym: "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" EXACT [Orphanet:568062] synonym: "PIEZO1-related LRHF/GLD" EXACT [Orphanet:568062] synonym: "PIEZO1-related lymphatic-related hydrops fetalis" EXACT [Orphanet:568062] +xref: GARD:22301 {source="Orphanet:568062"} xref: Orphanet:568062 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema @@ -434249,12 +453834,14 @@ is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035475 name: EPHB4-related lymphatic-related hydrops fetalis def: "A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients." [Orphanet:568065] +subset: gard_rare {source="GARD:22302"} subset: ordo_disorder synonym: "EPHB4-related generalised lymphatic dysplasia with atrial septal defect" EXACT OMO:0003005 [] synonym: "EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis" EXACT OMO:0003005 [] synonym: "EPHB4-related generalized lymphatic dysplasia with atrial septal defect" EXACT [Orphanet:568065] synonym: "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis" EXACT [Orphanet:568065] synonym: "EPHB4-related LRHF/GLD" EXACT [Orphanet:568065] +xref: GARD:22302 {source="Orphanet:568065"} xref: Orphanet:568065 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema @@ -434262,7 +453849,9 @@ is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035499 name: CELSR1-related late-onset primary lymphedema def: "A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux." [Orphanet:569816] +subset: gard_rare {source="GARD:22306"} subset: ordo_disorder +xref: GARD:22306 {source="Orphanet:569816"} xref: Orphanet:569816 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema @@ -434270,8 +453859,10 @@ is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035500 name: congenital primary lymphedema of Gordon def: "A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy." [Orphanet:569821] +subset: gard_rare {source="GARD:22307"} subset: ordo_disorder synonym: "VEGFC-related congenital primary lymphedema" EXACT [Orphanet:569821] +xref: GARD:22307 {source="Orphanet:569821"} xref: Orphanet:569821 {source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="Orphanet:569821"} ! VEGFC @@ -434280,7 +453871,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035511 name: ricin poisoning def: "A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure." [Orphanet:570470] +subset: gard_rare {source="GARD:22311"} subset: ordo_disorder +xref: GARD:22311 {source="Orphanet:570470"} xref: ICD10CM:T62.2 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:570470"} xref: Orphanet:570470 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! poisoning @@ -434288,9 +453881,11 @@ is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035521 name: blepharophimosis-ptosis-epicanthus inversus syndrome plus +subset: gard_rare {source="GARD:22312"} subset: ordo_disorder synonym: "3q23 microdeletion syndrome" EXACT [Orphanet:572333] synonym: "BPES plus" EXACT [Orphanet:572333] +xref: GARD:22312 {source="Orphanet:572333"} xref: Orphanet:572333 {source="MONDO:equivalentTo"} is_a: MONDO:0016868 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of chromosome 3 relationship: disease_arises_from_structure CHR:9606-chr3q23 {source="https://orcid.org/0000-0002-4142-7153"} ! 3q23 (Human) @@ -434298,9 +453893,11 @@ relationship: disease_arises_from_structure CHR:9606-chr3q23 {source="https://or [Term] id: MONDO:0035524 name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1 +subset: gard_rare {source="GARD:18008"} subset: ordo_subtype_of_a_disorder synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure" EXACT [Orphanet:572354] synonym: "BPES type 1" EXACT [Orphanet:572354] +xref: GARD:18008 {source="Orphanet:572354"} xref: Orphanet:572354 {source="MONDO:equivalentTo"} is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572354"} ! FOXL2 @@ -434308,9 +453905,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035525 name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2 +subset: gard_rare {source="GARD:10213"} subset: ordo_subtype_of_a_disorder synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure" EXACT [Orphanet:572361] synonym: "BPES type 2" EXACT [Orphanet:572361] +xref: GARD:10213 {source="Orphanet:572361"} xref: Orphanet:572361 {source="MONDO:equivalentTo"} is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572361"} ! FOXL2 @@ -434319,9 +453918,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035529 name: infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia def: "A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly." [Orphanet:572428] +subset: gard_rare {source="GARD:22313"} subset: ordo_disorder synonym: "OAS1 deficiency" EXACT [Orphanet:572428] synonym: "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia" EXACT [Orphanet:572428] +xref: GARD:22313 {source="Orphanet:572428"} xref: Orphanet:572428 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! respiratory system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8086 ! OAS1 @@ -434330,7 +453931,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035534 name: DONSON-related microcephaly-short stature-limb abnormalities spectrum def: "A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe." [Orphanet:572761] +subset: gard_rare {source="GARD:22314"} subset: ordo_disorder +xref: GARD:22314 {source="Orphanet:572761"} xref: Orphanet:572761 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease @@ -434338,14 +453941,18 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035540 name: pheochromocytoma-paraganglioma def: "A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications." [Orphanet:573163] +subset: gard_rare {source="GARD:22315"} subset: ordo_group_of_disorders xref: EFO:0020005 {source="MONDO:equivalentTo"} +xref: GARD:22315 {source="Orphanet:573163"} xref: Orphanet:573163 {source="MONDO:equivalentTo"} is_a: MONDO:0021227 {source="Orphanet:573163"} ! adrenal gland neoplasm [Term] id: MONDO:0035541 name: obsolete split cord malformation type II +subset: gard_rare {source="GARD:22316"} +xref: GARD:22316 {source="Orphanet:573253", source="MONDO:obsoleteEquivalent"} xref: Orphanet:573253 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434354,6 +453961,8 @@ is_obsolete: true [Term] id: MONDO:0035542 name: obsolete split cord malformation +subset: gard_rare {source="GARD:22317"} +xref: GARD:22317 {source="MONDO:obsoleteEquivalent", source="Orphanet:573278"} xref: Orphanet:573278 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434362,7 +453971,9 @@ is_obsolete: true [Term] id: MONDO:0035547 name: predisposition to severe viral infection due to IRF7 deficiency +subset: gard_rare {source="GARD:22318"} subset: ordo_disorder +xref: GARD:22318 {source="Orphanet:574918"} xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574918"} xref: Orphanet:574918 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility @@ -434370,8 +453981,10 @@ is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035548 name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency +subset: gard_rare {source="GARD:22319"} subset: ordo_disorder synonym: "Autosomal recessive MSMD due to partial JAK1 deficiency" EXACT [Orphanet:574957] +xref: GARD:22319 {source="Orphanet:574957"} xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574957"} xref: Orphanet:574957 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility @@ -434381,8 +453994,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035551 name: cathepsin a-related arteriopathy-strokes-leukoencephalopathy def: "A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease." [Orphanet:575553] +subset: gard_rare {source="GARD:22320"} subset: ordo_disorder synonym: "CARASAL" EXACT ABBREVIATION [Orphanet:575553] +xref: GARD:22320 {source="Orphanet:575553"} xref: ICD10CM:I67.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:575553"} xref: Orphanet:575553 {source="MONDO:equivalentTo"} is_a: MONDO:0011057 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder @@ -434391,6 +454006,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035554 name: obsolete complete atrioventricular septal defect without ventricular hypoplasia +subset: gard_rare {source="GARD:22322"} +xref: GARD:22322 {source="MONDO:obsoleteEquivalent", source="Orphanet:576227"} xref: Orphanet:576227 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434399,6 +454016,8 @@ is_obsolete: true [Term] id: MONDO:0035555 name: obsolete partial atrioventricular septal defect with ventricular hypoplasia +subset: gard_rare {source="GARD:22323"} +xref: GARD:22323 {source="MONDO:obsoleteEquivalent", source="Orphanet:576232"} xref: Orphanet:576232 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434407,6 +454026,8 @@ is_obsolete: true [Term] id: MONDO:0035556 name: obsolete partial atrioventricular septal defect without ventricular hypoplasia +subset: gard_rare {source="GARD:22324"} +xref: GARD:22324 {source="Orphanet:576235", source="MONDO:obsoleteEquivalent"} xref: Orphanet:576235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434415,6 +454036,8 @@ is_obsolete: true [Term] id: MONDO:0035557 name: obsolete intermediate atrioventricular septal defect +subset: gard_rare {source="GARD:22325"} +xref: GARD:22325 {source="MONDO:obsoleteEquivalent", source="Orphanet:576242"} xref: Orphanet:576242 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434423,7 +454046,9 @@ is_obsolete: true [Term] id: MONDO:0035561 name: obsolete sporadic human prion disease +subset: gard_rare {source="GARD:22327"} synonym: "idiopathic human prion disease" EXACT [Orphanet:576356] +xref: GARD:22327 {source="Orphanet:576356", source="MONDO:obsoleteEquivalent"} xref: Orphanet:576356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434434,8 +454059,10 @@ is_obsolete: true [Term] id: MONDO:0035562 name: acquired human prion disease +subset: gard_rare {source="GARD:22328"} subset: ordo_group_of_disorders synonym: "infectious human prion disease" EXACT [Orphanet:576360] +xref: GARD:22328 {source="Orphanet:576360"} xref: Orphanet:576360 {source="MONDO:equivalentTo"} is_a: MONDO:0018926 {source="Orphanet:576360", source="https://orcid.org/0000-0001-5208-3432"} ! human prion disease @@ -434443,6 +454070,8 @@ is_a: MONDO:0018926 {source="Orphanet:576360", source="https://orcid.org/0000-00 id: MONDO:0035581 name: obsolete lethal brain and heart developmental defects def: "OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]" [] +subset: gard_rare {source="GARD:22332"} +xref: GARD:22332 {source="MONDO:obsoleteEquivalent", source="Orphanet:580933"} xref: Orphanet:580933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434452,7 +454081,9 @@ is_obsolete: true id: MONDO:0035584 name: punctate inner choroidopathy def: "A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females." [Orphanet:580951] +subset: gard_rare {source="GARD:7503"} subset: ordo_disorder +xref: GARD:7503 {source="Orphanet:580951"} xref: ICD10CM:H31.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:580951"} xref: Orphanet:580951 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder @@ -434460,7 +454091,9 @@ is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035586 name: Cramp-fasciculation syndrome +subset: gard_rare {source="GARD:6205"} subset: ordo_disorder +xref: GARD:6205 {source="Orphanet:581271"} xref: ICD10CM:G90.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:581271"} xref: Orphanet:581271 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease @@ -434468,10 +454101,12 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035592 name: congenital infiltrating lipomatosis of the face +subset: gard_rare {source="GARD:22333"} subset: ordo_disorder synonym: "CIL-F" EXACT [Orphanet:583097] synonym: "facial infused lipomatosis" EXACT [Orphanet:583097] synonym: "fibroadipose infiltrating lipomatosis" EXACT [Orphanet:583097] +xref: GARD:22333 {source="Orphanet:583097"} xref: ICD10CM:Q87.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:583097"} xref: Orphanet:583097 {source="MONDO:equivalentTo"} is_a: MONDO:0006574 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! lipomatosis @@ -434479,7 +454114,9 @@ is_a: MONDO:0006574 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035605 name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +subset: gard_rare {source="GARD:22341"} subset: ordo_subtype_of_a_disorder +xref: GARD:22341 {source="Orphanet:585877"} xref: ICD10CM:C91.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:585877"} xref: NCIT:C80328 {source="MONDO:equivalentTo"} xref: Orphanet:585877 {source="MONDO:equivalentTo"} @@ -434489,7 +454126,9 @@ is_a: MONDO:0003538 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035614 name: sporadic fatal insomnia def: "A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years." [Orphanet:586130] +subset: gard_rare {source="GARD:22349"} subset: ordo_disorder +xref: GARD:22349 {source="Orphanet:586130"} xref: ICD10CM:A81.9 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:586130"} xref: Orphanet:586130 {source="MONDO:equivalentTo"} is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease @@ -434510,8 +454149,10 @@ replaced_by: MONDO:0030045 [Term] id: MONDO:0035639 name: mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) +subset: gard_rare {source="GARD:22354"} subset: ordo_subtype_of_a_disorder synonym: "MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [Orphanet:589534] +xref: GARD:22354 {source="Orphanet:589534"} xref: ICD10CM:C92.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589534"} xref: Orphanet:589534 {source="MONDO:equivalentTo"} is_a: MONDO:0020743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia @@ -434521,9 +454162,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035642 name: mixed phenotype acute leukemia with t(v;11q23.3) +subset: gard_rare {source="GARD:22357"} subset: ordo_subtype_of_a_disorder synonym: "MPAL with t(v;11q23.3); KMT2A rearranged" EXACT [Orphanet:589595] synonym: "MPAL with t(v;11q23.3); MLL rearranged" EXACT [Orphanet:589595] +xref: GARD:22357 {source="Orphanet:589595"} xref: ICD10CM:C92.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589595"} xref: NCIT:C82203 {source="MONDO:equivalentTo"} xref: Orphanet:589595 {source="MONDO:equivalentTo"} @@ -434534,6 +454177,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035645 name: obsolete inherited gynecological cancer-predisposing syndrome +subset: gard_rare {source="GARD:22360"} +xref: GARD:22360 {source="MONDO:obsoleteEquivalent", source="Orphanet:589746"} xref: Orphanet:589746 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434545,9 +454190,11 @@ is_obsolete: true [Term] id: MONDO:0035646 name: congenital-onset Steinert myotonic dystrophy +subset: gard_rare {source="GARD:22361"} subset: ordo_subtype_of_a_disorder synonym: "Congenital-onset myotonic dystrophy type 1" EXACT [Orphanet:589821] synonym: "Congenital-onset Steinert disease" EXACT [Orphanet:589821] +xref: GARD:22361 {source="Orphanet:589821"} xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589821"} xref: Orphanet:589821 {source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy @@ -434557,9 +454204,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035647 name: childhood-onset Steinert myotonic dystrophy +subset: gard_rare {source="GARD:22362"} subset: ordo_subtype_of_a_disorder synonym: "Childhood-onset myotonic dystrophy type 1" EXACT [Orphanet:589824] synonym: "Childhood-onset Steinert disease" EXACT [Orphanet:589824] +xref: GARD:22362 {source="Orphanet:589824"} xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589824"} xref: Orphanet:589824 {source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy @@ -434567,9 +454216,11 @@ is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035648 name: juvenile-onset Steinert myotonic dystrophy +subset: gard_rare {source="GARD:22363"} subset: ordo_subtype_of_a_disorder synonym: "Juvenile-onset myotonic dystrophy type 1" EXACT [Orphanet:589827] synonym: "Juvenile-onset Steinert disease" EXACT [Orphanet:589827] +xref: GARD:22363 {source="Orphanet:589827"} xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589827"} xref: Orphanet:589827 {source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy @@ -434577,9 +454228,11 @@ is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035649 name: adult-onset Steinert myotonic dystrophy +subset: gard_rare {source="GARD:22364"} subset: ordo_subtype_of_a_disorder synonym: "Adult-onset myotonic dystrophy type 1" EXACT [Orphanet:589830] synonym: "Adult-onset Steinert disease" EXACT [Orphanet:589830] +xref: GARD:22364 {source="Orphanet:589830"} xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589830"} xref: Orphanet:589830 {source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy @@ -434587,9 +454240,11 @@ is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035650 name: late-onset Steinert myotonic dystrophy +subset: gard_rare {source="GARD:22365"} subset: ordo_subtype_of_a_disorder synonym: "Late-onset myotonic dystrophy type 1" EXACT [Orphanet:589833] synonym: "Late-onset Steinert disease" EXACT [Orphanet:589833] +xref: GARD:22365 {source="Orphanet:589833"} xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589833"} xref: Orphanet:589833 {source="MONDO:equivalentTo"} is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy @@ -434597,8 +454252,10 @@ is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035651 name: choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome +subset: gard_rare {source="GARD:22366"} subset: ordo_disorder synonym: "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome" EXACT [Orphanet:589856] +xref: GARD:22366 {source="Orphanet:589856"} xref: Orphanet:589856 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7133 ! KMT2D @@ -434606,8 +454263,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035660 name: GNAO1-related developmental delay-seizures-movement disorder spectrum +subset: gard_rare {source="GARD:22369"} subset: ordo_disorder synonym: "GNAO1-related spectrum" EXACT [Orphanet:592564] +xref: GARD:22369 {source="Orphanet:592564"} xref: ICD10CM:F84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592564"} xref: Orphanet:592564 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="Orphanet:592564"} ! hereditary disease @@ -434617,7 +454276,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035661 name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome def: "A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus." [Orphanet:592570] +subset: gard_rare {source="GARD:22370"} subset: ordo_disorder +xref: GARD:22370 {source="Orphanet:592570"} xref: Orphanet:592570 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20456 ! TRAF7 @@ -434625,9 +454286,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035663 name: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies +subset: gard_rare {source="GARD:22372"} subset: ordo_subtype_of_a_disorder synonym: "Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies" EXACT [Orphanet:592850] synonym: "NMOSD with anti-AQP4 antibodies" EXACT [Orphanet:592850] +xref: GARD:22372 {source="Orphanet:592850"} xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592850"} xref: Orphanet:592850 {source="MONDO:equivalentTo"} is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica @@ -434635,9 +454298,11 @@ is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035664 name: neuromyelitis optica spectrum disorder with anti-MOG antibodies +subset: gard_rare {source="GARD:22373"} subset: ordo_subtype_of_a_disorder synonym: "Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592856] synonym: "NMOSD with anti-MOG antibodies" EXACT [Orphanet:592856] +xref: GARD:22373 {source="Orphanet:592856"} xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592856"} xref: Orphanet:592856 {source="MONDO:equivalentTo"} is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica @@ -434645,9 +454310,11 @@ is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035665 name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies +subset: gard_rare {source="GARD:22374"} subset: ordo_subtype_of_a_disorder synonym: "Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies" EXACT [Orphanet:592869] synonym: "NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies" EXACT [Orphanet:592869] +xref: GARD:22374 {source="Orphanet:592869"} xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592869"} xref: Orphanet:592869 {source="MONDO:equivalentTo"} is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica @@ -434655,8 +454322,10 @@ is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035666 name: acute transverse myelitis with anti-MOG antibodies +subset: gard_rare {source="GARD:22375"} subset: ordo_subtype_of_a_disorder synonym: "Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592873] +xref: GARD:22375 {source="Orphanet:592873"} xref: ICD10CM:G37.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592873"} xref: Orphanet:592873 {source="MONDO:equivalentTo"} is_a: MONDO:0015342 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute transverse myelitis @@ -434665,25 +454334,31 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0035667 name: isolated optic neuritis without anti-MOG antibodies +subset: gard_rare {source="GARD:22376"} subset: ordo_subtype_of_a_disorder synonym: "Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592885] +xref: GARD:22376 {source="Orphanet:592885"} xref: Orphanet:592885 {source="MONDO:equivalentTo"} is_a: MONDO:0044688 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated optic neuritis [Term] id: MONDO:0035668 name: isolated optic neuritis with anti-MOG antibodies +subset: gard_rare {source="GARD:22377"} subset: ordo_subtype_of_a_disorder synonym: "Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592888] +xref: GARD:22377 {source="Orphanet:592888"} xref: Orphanet:592888 {source="MONDO:equivalentTo"} is_a: MONDO:0044688 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated optic neuritis [Term] id: MONDO:0035669 name: acute disseminated encephalomyelitis with anti-MOG antibodies +subset: gard_rare {source="GARD:22378"} subset: ordo_subtype_of_a_disorder synonym: "Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592894] synonym: "ADEM with anti-MOG antibodies" EXACT [Orphanet:592894] +xref: GARD:22378 {source="Orphanet:592894"} xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592894"} xref: Orphanet:592894 {source="MONDO:equivalentTo"} is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis @@ -434692,8 +454367,10 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0035670 name: acute disseminated encephalomyelitis without anti-MOG antibodies +subset: gard_rare {source="GARD:22379"} subset: ordo_subtype_of_a_disorder synonym: "Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592900] +xref: GARD:22379 {source="Orphanet:592900"} xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592900"} xref: Orphanet:592900 {source="MONDO:equivalentTo"} is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis @@ -434703,9 +454380,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0035678 name: Timothy syndrome type 1 def: "Classical Timothy syndrome with cutaneous syndactyly." [https://orcid.org/0000-0002-4142-7153] +subset: gard_rare {source="GARD:22380"} subset: ordo_subtype_of_a_disorder synonym: "LQT8 type 1" EXACT [Orphanet:595098] synonym: "TS1" EXACT [Orphanet:595098] +xref: GARD:22380 {source="Orphanet:595098"} xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595098"} xref: Orphanet:595098 {source="MONDO:equivalentTo"} is_a: MONDO:0021171 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Timothy syndrome, classic type @@ -434716,9 +454395,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0035679 name: Timothy syndrome type 2 def: "Classical Timothy syndrome without cutaneous syndactyly." [https://orcid.org/0000-0002-4142-7153] +subset: gard_rare {source="GARD:22381"} subset: ordo_subtype_of_a_disorder synonym: "LQT8 type 2" EXACT [Orphanet:595105] synonym: "TS2" EXACT [Orphanet:595105] +xref: GARD:22381 {source="Orphanet:595105"} xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595105"} xref: Orphanet:595105 {source="MONDO:equivalentTo"} is_a: MONDO:0021171 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Timothy syndrome, classic type @@ -434727,9 +454408,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0035682 name: obsolete fibrous dysplasia/McCune-Albright syndrome +subset: gard_rare {source="GARD:22384"} synonym: "FD/MAS spectrum" EXACT [Orphanet:595216] synonym: "FD/MAS syndrome" EXACT [Orphanet:595216] synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [Orphanet:595216] +xref: GARD:22384 {source="MONDO:obsoleteEquivalent", source="Orphanet:595216"} xref: Orphanet:595216 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434739,6 +454422,8 @@ is_obsolete: true [Term] id: MONDO:0035683 name: obsolete adrenal hypoplasia congenita +subset: gard_rare {source="GARD:22385"} +xref: GARD:22385 {source="MONDO:obsoleteEquivalent", source="Orphanet:595337"} xref: Orphanet:595337 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434748,7 +454433,9 @@ consider: HP:0008244 [Term] id: MONDO:0035684 name: obsolete epidermolysis bullosa simplex without extracutaneous involvement +subset: gard_rare {source="GARD:22386"} synonym: "EBS without extracutaneous involvement" EXACT [Orphanet:595346] +xref: GARD:22386 {source="MONDO:obsoleteEquivalent", source="Orphanet:595346"} xref: Orphanet:595346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434759,7 +454446,9 @@ is_obsolete: true [Term] id: MONDO:0035685 name: obsolete epidermolysis bullosa simplex with extracutaneous involvement +subset: gard_rare {source="GARD:22387"} synonym: "EBS with extracutaneous involvement" EXACT [Orphanet:595351] +xref: GARD:22387 {source="Orphanet:595351", source="MONDO:obsoleteEquivalent"} xref: Orphanet:595351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434770,6 +454459,8 @@ is_obsolete: true [Term] id: MONDO:0035689 name: obsolete syndrome of reduced sensitivity to thyroid hormone +subset: gard_rare {source="GARD:22390"} +xref: GARD:22390 {source="MONDO:obsoleteEquivalent", source="Orphanet:596426"} xref: Orphanet:596426 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -434779,8 +454470,10 @@ is_obsolete: true [Term] id: MONDO:0035694 name: combined immunodeficiency due to RELA haploinsufficiency +subset: gard_rare {source="GARD:22392"} subset: ordo_disorder synonym: "CID due to RELA haploinsufficiency" EXACT [Orphanet:596759] +xref: GARD:22392 {source="Orphanet:596759"} xref: Orphanet:596759 {source="MONDO:equivalentTo"} is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency @@ -434788,8 +454481,10 @@ is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035696 name: incomplete septal cirrhosis def: "A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma." [Orphanet:596941] +subset: gard_rare {source="GARD:22394"} subset: ordo_subtype_of_a_disorder synonym: "Incomplete septal fibrosis" EXACT [Orphanet:596941] +xref: GARD:22394 {source="Orphanet:596941"} xref: ICD10CM:K74.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:596941"} xref: Orphanet:596941 {source="MONDO:equivalentTo"} is_a: MONDO:0035357 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! portosinusoidal vascular disease @@ -434798,21 +454493,27 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0035706 name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome +subset: gard_rare {source="GARD:22397"} subset: ordo_disorder +xref: GARD:22397 {source="Orphanet:597743"} xref: Orphanet:597743 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0035707 name: blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome +subset: gard_rare {source="GARD:22398"} subset: ordo_disorder +xref: GARD:22398 {source="Orphanet:597746"} xref: Orphanet:597746 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0035713 name: FOXG1 syndrome due to intragenic alteration +subset: gard_rare {source="GARD:22402"} subset: ordo_subtype_of_a_disorder +xref: GARD:22402 {source="Orphanet:598164"} xref: Orphanet:598164 {source="MONDO:equivalentTo"} is_a: MONDO:0100040 {source="https://orcid.org/0000-0001-5208-3432"} ! FOXG1 disorder relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -434820,7 +454521,9 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0035734 name: hereditary angioedema with normal C1inh not related to F12 or PLG variant +subset: gard_rare {source="GARD:22406"} subset: ordo_subtype_of_a_disorder +xref: GARD:22406 {source="Orphanet:599418"} xref: Orphanet:599418 {source="MONDO:equivalentTo"} is_a: MONDO:0019623 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary angioedema @@ -434828,8 +454531,10 @@ is_a: MONDO:0019623 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035735 name: acquired hemophilia A def: "An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions." [PMID:31632887] +subset: gard_rare {source="GARD:6405"} subset: ordo_disorder synonym: "AHA" EXACT ABBREVIATION [Orphanet:599480] +xref: GARD:6405 {source="Orphanet:599480"} xref: MESH:C536392 {source="MONDO:equivalentTo"} xref: NCIT:C35345 {source="MONDO:equivalentTo"} xref: Orphanet:599480 {source="MONDO:equivalentTo"} @@ -434839,15 +454544,19 @@ is_a: MONDO:0019139 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035736 name: acquired hemophilia B +subset: gard_rare {source="GARD:22407"} subset: ordo_disorder synonym: "AHB" EXACT [Orphanet:599485] +xref: GARD:22407 {source="Orphanet:599485"} xref: Orphanet:599485 {source="MONDO:equivalentTo"} is_a: MONDO:0019139 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired hemophilia [Term] id: MONDO:0035737 name: acquired factor V deficiency +subset: gard_rare {source="GARD:22408"} subset: ordo_disorder +xref: GARD:22408 {source="Orphanet:599490"} xref: NCIT:C131624 {source="MONDO:equivalentTo"} xref: Orphanet:599490 {source="MONDO:equivalentTo"} is_a: MONDO:0020586 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor V deficiency @@ -434858,7 +454567,9 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0035738 name: acquired factor VII deficiency +subset: gard_rare {source="GARD:22409"} subset: ordo_disorder +xref: GARD:22409 {source="Orphanet:599495"} xref: NCIT:C131625 {source="MONDO:equivalentTo"} xref: Orphanet:599495 {source="MONDO:equivalentTo"} is_a: MONDO:0002244 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor VII deficiency @@ -434869,8 +454580,10 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0035740 name: acquired factor XI deficiency +subset: gard_rare {source="GARD:22411"} subset: ordo_disorder synonym: "aFXI" EXACT ABBREVIATION [Orphanet:599507] +xref: GARD:22411 {source="Orphanet:599507"} xref: NCIT:C131627 {source="MONDO:equivalentTo"} xref: Orphanet:599507 {source="MONDO:equivalentTo"} is_a: MONDO:0020587 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor XI deficiency @@ -434881,30 +454594,38 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0035742 name: factor V short isoforms-related bleeding disorder +subset: gard_rare {source="GARD:22413"} subset: ordo_disorder synonym: "FV short isoforms-related bleeding disorder" EXACT [Orphanet:599519] +xref: GARD:22413 {source="Orphanet:599519"} xref: Orphanet:599519 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease [Term] id: MONDO:0035743 name: factor V amsterdam bleeding disorder +subset: gard_rare {source="GARD:22414"} subset: ordo_subtype_of_a_disorder +xref: GARD:22414 {source="Orphanet:599579"} xref: Orphanet:599579 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease [Term] id: MONDO:0035759 name: factor V atlanta bleeding disorder +subset: gard_rare {source="GARD:22415"} subset: ordo_subtype_of_a_disorder +xref: GARD:22415 {source="Orphanet:600194"} xref: Orphanet:600194 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease [Term] id: MONDO:0035763 name: idiopathic non-lupus full-house nephropathy +subset: gard_rare {source="GARD:22285"} subset: ordo_disorder synonym: "Idiopathic non-lupus FHN" EXACT [Orphanet:567544] +xref: GARD:22285 {source="Orphanet:567544"} xref: ICD10CM:N05 {source="Orphanet:567544"} xref: Orphanet:567544 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! kidney disorder @@ -434912,10 +454633,12 @@ is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035764 name: idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance +subset: gard_rare {source="GARD:22286"} subset: ordo_disorder synonym: "Idiopathic SSNS with secondary steroid resistance" EXACT [Orphanet:567546] synonym: "Secondary SRNS" EXACT [Orphanet:567546] synonym: "Secondary steroid-resistant nephrotic syndrome" EXACT [Orphanet:567546] +xref: GARD:22286 {source="Orphanet:567546"} xref: ICD10CM:N04.8 {source="Orphanet:567546"} xref: Orphanet:567546 {source="MONDO:equivalentTo"} is_a: MONDO:0019067 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -434924,7 +454647,9 @@ is_a: MONDO:0019067 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035774 name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance def: "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common." [Orphanet:600663] +subset: gard_rare {source="GARD:22416"} subset: ordo_disorder +xref: GARD:22416 {source="Orphanet:600663"} xref: Orphanet:600663 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 ! NRXN1 @@ -434932,7 +454657,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035775 name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome +subset: gard_rare {source="GARD:22417"} subset: ordo_disorder +xref: GARD:22417 {source="Orphanet:600668"} xref: Orphanet:600668 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1596 ! CCNK @@ -434940,7 +454667,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035776 name: combined deficiency of factor VII and factor X +subset: gard_rare {source="GARD:22418"} subset: ordo_disorder +xref: GARD:22418 {source="Orphanet:600691"} xref: Orphanet:600691 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease @@ -434948,8 +454677,10 @@ is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035777 name: parenteral nutrition-associated cholestasis def: "A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension." [Orphanet:567983] +subset: gard_rare {source="GARD:22295"} subset: ordo_disorder synonym: "PNAC" EXACT [Orphanet:567983] +xref: GARD:22295 {source="Orphanet:567983"} xref: ICD10CM:K76.8 {source="Orphanet:567983"} xref: Orphanet:567983 {source="MONDO:equivalentTo"} is_a: MONDO:0001751 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! cholestasis @@ -434957,6 +454688,8 @@ is_a: MONDO:0001751 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035780 name: obsolete non-syndromic anorectal malformation with perineal fistula +subset: gard_rare {source="GARD:22420"} +xref: GARD:22420 {source="Orphanet:600952", source="MONDO:obsoleteEquivalent"} xref: Orphanet:600952 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434965,6 +454698,8 @@ is_obsolete: true [Term] id: MONDO:0035781 name: obsolete non-syndromic anorectal malformation with rectourethral fistula +subset: gard_rare {source="GARD:22421"} +xref: GARD:22421 {source="Orphanet:600961", source="MONDO:obsoleteEquivalent"} xref: Orphanet:600961 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -434973,26 +454708,32 @@ is_obsolete: true [Term] id: MONDO:0035782 name: non-syndromic anorectal malformation with rectourethral fistula, bulbar type +subset: gard_rare {source="GARD:22422"} subset: ordo_subtype_of_a_disorder synonym: "Non-syndromic anorectal malformation with rectobulbar fistula" EXACT [Orphanet:600966] synonym: "Non-syndromic ARM with rectobulbar fistula" EXACT [Orphanet:600966] synonym: "Non-syndromic ARM with rectourethral fistula, bulbar type" EXACT [Orphanet:600966] +xref: GARD:22422 {source="Orphanet:600966"} xref: Orphanet:600966 {source="MONDO:equivalentTo"} is_a: MONDO:0019938 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anorectal malformation [Term] id: MONDO:0035783 name: non-syndromic anorectal malformation with rectourethral fistula, prostatic type +subset: gard_rare {source="GARD:22423"} subset: ordo_subtype_of_a_disorder synonym: "Non-syndromic anorectal malformation with rectoprostatic fistula" EXACT [Orphanet:600975] synonym: "Non-syndromic ARM with rectoprostatic fistula" EXACT [Orphanet:600975] synonym: "Non-syndromic ARM with rectourethral fistula, prostatic type" EXACT [Orphanet:600975] +xref: GARD:22423 {source="Orphanet:600975"} xref: Orphanet:600975 {source="MONDO:equivalentTo"} is_a: MONDO:0019938 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anorectal malformation [Term] id: MONDO:0035784 name: obsolete non-syndromic anorectal malformation with rectovesical fistula +subset: gard_rare {source="GARD:22424"} +xref: GARD:22424 {source="Orphanet:600984", source="MONDO:obsoleteEquivalent"} xref: Orphanet:600984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435001,6 +454742,8 @@ is_obsolete: true [Term] id: MONDO:0035785 name: obsolete non-syndromic anorectal malformation with vestibular fistula +subset: gard_rare {source="GARD:22425"} +xref: GARD:22425 {source="MONDO:obsoleteEquivalent", source="Orphanet:600993"} xref: Orphanet:600993 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435009,6 +454752,8 @@ is_obsolete: true [Term] id: MONDO:0035786 name: obsolete non-syndromic cloacal malformation +subset: gard_rare {source="GARD:22426"} +xref: GARD:22426 {source="MONDO:obsoleteEquivalent", source="Orphanet:600998"} xref: Orphanet:600998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435017,6 +454762,8 @@ is_obsolete: true [Term] id: MONDO:0035787 name: obsolete non-syndromic anorectal malformation without fistula +subset: gard_rare {source="GARD:22427"} +xref: GARD:22427 {source="MONDO:obsoleteEquivalent", source="Orphanet:601002"} xref: Orphanet:601002 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435025,6 +454772,8 @@ is_obsolete: true [Term] id: MONDO:0035788 name: obsolete non-syndromic anorectal malformation with anal stenosis +subset: gard_rare {source="GARD:22428"} +xref: GARD:22428 {source="Orphanet:601008", source="MONDO:obsoleteEquivalent"} xref: Orphanet:601008 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435033,6 +454782,8 @@ is_obsolete: true [Term] id: MONDO:0035789 name: obsolete non-syndromic anorectal malformation with pouch colon +subset: gard_rare {source="GARD:22429"} +xref: GARD:22429 {source="MONDO:obsoleteEquivalent", source="Orphanet:601013"} xref: Orphanet:601013 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435041,6 +454792,8 @@ is_obsolete: true [Term] id: MONDO:0035790 name: obsolete non-syndromic anorectal malformation with rectal atresia +subset: gard_rare {source="GARD:22430"} +xref: GARD:22430 {source="Orphanet:601018", source="MONDO:obsoleteEquivalent"} xref: Orphanet:601018 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435049,6 +454802,8 @@ is_obsolete: true [Term] id: MONDO:0035791 name: obsolete non-syndromic anorectal malformation with rectal stenosis +subset: gard_rare {source="GARD:22431"} +xref: GARD:22431 {source="MONDO:obsoleteEquivalent", source="Orphanet:601023"} xref: Orphanet:601023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435057,6 +454812,8 @@ is_obsolete: true [Term] id: MONDO:0035792 name: obsolete non-syndromic anorectal malformation with rectovaginal fistula +subset: gard_rare {source="GARD:22432"} +xref: GARD:22432 {source="Orphanet:601028", source="MONDO:obsoleteEquivalent"} xref: Orphanet:601028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435065,6 +454822,8 @@ is_obsolete: true [Term] id: MONDO:0035793 name: obsolete non-syndromic anorectal malformation with h-type fistula +subset: gard_rare {source="GARD:22433"} +xref: GARD:22433 {source="MONDO:obsoleteEquivalent", source="Orphanet:601033"} xref: Orphanet:601033 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -435073,8 +454832,10 @@ is_obsolete: true [Term] id: MONDO:0035819 name: cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome +subset: gard_rare {source="GARD:18020"} subset: ordo_disorder synonym: "CIMDAG syndrome" EXACT [Orphanet:603448] +xref: GARD:18020 {source="Orphanet:603448"} xref: OMIM:619273 {source="Orphanet:603448", source="MONDO:equivalentTo\""} xref: Orphanet:603448 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -435082,15 +454843,19 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic [Term] id: MONDO:0035821 name: isolated female hypospadias +subset: gard_rare {source="GARD:22434"} subset: ordo_disorder +xref: GARD:22434 {source="Orphanet:603515"} xref: Orphanet:603515 {source="MONDO:equivalentTo"} is_a: MONDO:0005345 {source="https://orcid.org/0000-0001-5208-3432"} ! hypospadias [Term] id: MONDO:0035823 name: KLHL7-related Bohring-Opitz-like syndrome +subset: gard_rare {source="GARD:22436"} subset: ordo_disorder synonym: "KLHL7-related BOS-like syndrome" EXACT [Orphanet:603689] +xref: GARD:22436 {source="Orphanet:603689"} xref: Orphanet:603689 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7 @@ -435098,27 +454863,33 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0035824 name: KLHL7-related cold-induced sweating-like syndrome +subset: gard_rare {source="GARD:22437"} subset: ordo_disorder synonym: "KLHL7-related Crisponi-like syndrome" EXACT [Orphanet:603694] +xref: GARD:22437 {source="Orphanet:603694"} xref: Orphanet:603694 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease [Term] id: MONDO:0035826 name: symptomatic form of X-linked centronuclear myopathy in female carriers +subset: gard_rare {source="GARD:22439"} subset: ordo_disorder synonym: "Symptomatic form of X-linked myotubular myopathy in female carriers" EXACT [Orphanet:604680] synonym: "Symptomatic form of XLCNM in female carriers" EXACT [Orphanet:604680] synonym: "Symptomatic form of XLMTM in female carriers" EXACT [Orphanet:604680] +xref: GARD:22439 {source="Orphanet:604680"} xref: Orphanet:604680 {source="MONDO:equivalentTo"} is_a: MONDO:0010683 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! X-linked myotubular myopathy [Term] id: MONDO:0035838 name: idiopathic multicentric Castleman disease +subset: gard_rare {source="GARD:22309"} subset: ordo_subtype_of_a_disorder synonym: "HHV-8-negative multicentric Castleman disease" EXACT [Orphanet:570431] synonym: "Human herpesvirus-8-negative multicentric Castleman disease" EXACT [Orphanet:570431] +xref: GARD:22309 {source="Orphanet:570431"} xref: ICD10CM:D47.7 {source="Orphanet:570431"} xref: Orphanet:570431 {source="MONDO:equivalentTo"} is_a: MONDO:0015564 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Castleman disease @@ -435126,6 +454897,8 @@ is_a: MONDO:0015564 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035862 name: obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +subset: gard_rare {source="GARD:22440"} +xref: GARD:22440 {source="Orphanet:611314", source="MONDO:obsoleteEquivalent"} xref: Orphanet:611314 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -435135,6 +454908,8 @@ consider: MONDO:0000508 [Term] id: MONDO:0035863 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +subset: gard_rare {source="GARD:22441"} +xref: GARD:22441 {source="MONDO:obsoleteEquivalent", source="Orphanet:611327"} xref: Orphanet:611327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -435157,9 +454932,11 @@ is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning [Term] id: MONDO:0035879 name: granuloma faciale +subset: gard_rare {source="GARD:22442"} subset: ordo_disorder synonym: "Facial granuloma of Lever" EXACT [Orphanet:615943] synonym: "Granuloma of Lever" EXACT [Orphanet:615943] +xref: GARD:22442 {source="Orphanet:615943"} xref: ICD10CM:L92.2 {source="Orphanet:615943", source="MONDO:equivalentTo"} xref: Orphanet:615943 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! skin disorder @@ -435167,8 +454944,10 @@ is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035882 name: chronic intervillositis of unknown etiology +subset: gard_rare {source="GARD:22443"} subset: ordo_disorder synonym: "CIUE" EXACT [Orphanet:615970] +xref: GARD:22443 {source="Orphanet:615970"} xref: Orphanet:615970 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="PMID:33155353", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pregnancy disorder @@ -435176,15 +454955,19 @@ is_a: MONDO:0024575 {source="PMID:33155353", source="https://orcid.org/0000-0001 id: MONDO:0035892 name: Mills syndrome def: "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." [Orphanet:94091] +subset: gard_rare {source="GARD:19250"} subset: ordo_disease +xref: GARD:19250 {source="Orphanet:94091"} xref: Orphanet:94091 {source="MONDO:equivalentTo"} is_a: MONDO:0020129 {source="Orphanet:94091"} ! acquired motor neuron disease [Term] id: MONDO:0035930 name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency +subset: gard_rare {source="GARD:22337"} subset: ordo_subtype_of_a_disorder synonym: "3-phosphoserine phosphatase deficiency, prenatal form" EXACT [Orphanet:583612] +xref: GARD:22337 {source="Orphanet:583612"} xref: ICD10CM:E88.8 {source="Orphanet:583612"} xref: Orphanet:583612 {source="MONDO:equivalentTo"} is_a: MONDO:0000179 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Neu-Laxova syndrome @@ -435192,11 +454975,13 @@ is_a: MONDO:0000179 {source="https://orcid.org/0000-0001-5208-3432", source="htt [Term] id: MONDO:0035940 name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) +subset: gard_rare {source="GARD:22342"} subset: ordo_subtype_of_a_disorder synonym: "B-ALL with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585909] synonym: "BCR-ABL1-like B-ALL" EXACT [Orphanet:585909] synonym: "Philadelphia chromosome-like B-ALL" EXACT [Orphanet:585909] xref: DOID:0080643 {source="MONDO:equivalentTo"} +xref: GARD:22342 {source="Orphanet:585909"} xref: ICD10CM:C91.0 {source="Orphanet:585909"} xref: NCIT:C80331 {source="MONDO:equivalentTo"} xref: Orphanet:585909 {source="MONDO:equivalentTo"} @@ -435205,10 +454990,12 @@ is_a: MONDO:0035605 {source="NCIT:C80331"} ! B-lymphoblastic leukemia/lymphoma w [Term] id: MONDO:0035941 name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) +subset: gard_rare {source="GARD:22343"} subset: ordo_subtype_of_a_disorder synonym: "B lymphoblastic leukaemia lymphoma with t(v;11q23); MLL rearranged" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged" EXACT [Orphanet:585918] synonym: "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged" EXACT [Orphanet:585918] +xref: GARD:22343 {source="Orphanet:585918"} xref: ICD10CM:C91.0 {source="Orphanet:585918"} xref: NCIT:C80332 {source="MONDO:equivalentTo"} xref: Orphanet:585918 {source="MONDO:equivalentTo"} @@ -435217,10 +455004,12 @@ is_a: MONDO:0035605 {source="NCIT:C80332", source="Orphanet:585918"} ! B-lymphob [Term] id: MONDO:0035942 name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) +subset: gard_rare {source="GARD:22344"} subset: ordo_subtype_of_a_disorder synonym: "B lymphoblastic leukaemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT [Orphanet:585929] synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [Orphanet:585929] +xref: GARD:22344 {source="Orphanet:585929"} xref: ICD10CM:C91.0 {source="Orphanet:585929"} xref: NCIT:C80334 {source="MONDO:equivalentTo"} xref: Orphanet:585929 {source="MONDO:equivalentTo"} @@ -435229,8 +455018,10 @@ is_a: MONDO:0035605 {source="NCIT:C80334", source="Orphanet:585929"} ! B-lymphob [Term] id: MONDO:0035943 name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy +subset: gard_rare {source="GARD:22345"} subset: ordo_subtype_of_a_disorder xref: DOID:0080646 {source="MONDO:equivalentTo"} +xref: GARD:22345 {source="Orphanet:585936"} xref: ICD10CM:C91.0 {source="Orphanet:585936"} xref: NCIT:C80335 {source="MONDO:equivalentTo"} xref: Orphanet:585936 {source="MONDO:equivalentTo"} @@ -435239,9 +455030,11 @@ is_a: MONDO:0035605 {source="NCIT:C80335", source="Orphanet:585936"} ! B-lymphob [Term] id: MONDO:0035944 name: B-lymphoblastic leukemia/lymphoma with hypodiploidy +subset: gard_rare {source="GARD:22346"} subset: ordo_subtype_of_a_disorder synonym: "Hypodiploid ALL" EXACT [Orphanet:585942] xref: DOID:0080647 {source="MONDO:equivalentTo"} +xref: GARD:22346 {source="Orphanet:585942"} xref: ICD10CM:C91.0 {source="Orphanet:585942"} xref: NCIT:C80338 {source="MONDO:equivalentTo"} xref: Orphanet:585942 {source="MONDO:equivalentTo"} @@ -435250,9 +455043,11 @@ is_a: MONDO:0035605 {source="NCIT:C80338", source="Orphanet:585942"} ! B-lymphob [Term] id: MONDO:0035945 name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) +subset: gard_rare {source="GARD:22347"} subset: ordo_subtype_of_a_disorder synonym: "B lymphoblastic leukaemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT [Orphanet:585948] +xref: GARD:22347 {source="Orphanet:585948"} xref: ICD10CM:C91.0 {source="Orphanet:585948"} xref: NCIT:C80340 {source="MONDO:equivalentTo"} xref: Orphanet:585948 {source="MONDO:equivalentTo"} @@ -435268,7 +455063,9 @@ is_a: MONDO:0029000 {source="Orphanet:240839"} ! poisoning [Term] id: MONDO:0036042 name: obsolete KAT6B-related multiple congenital anomalies syndrome +subset: gard_rare {source="GARD:22399"} synonym: "KAT6B-related disorder" EXACT [Orphanet:597749] +xref: GARD:22399 {source="MONDO:obsoleteEquivalent", source="Orphanet:597749"} xref: Orphanet:597749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -435279,16 +455076,20 @@ is_obsolete: true [Term] id: MONDO:0036045 name: euthyroid dysprealbuminemic hyperthyroxinemia +subset: gard_rare {source="GARD:22401"} subset: ordo_disorder synonym: "Euthyroid dystransthyretinemic hyperthyroxinemia" EXACT [Orphanet:597939] +xref: GARD:22401 {source="Orphanet:597939"} xref: Orphanet:597939 {source="MONDO:equivalentTo"} is_a: MONDO:0005333 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hyperthyroxinemia [Term] id: MONDO:0036189 name: oculogastrointestinal-neurodevelopmental syndrome +subset: gard_rare {source="GARD:18024"} subset: ordo_disorder synonym: "OGIN Syndrome" EXACT [Orphanet:611201] +xref: GARD:18024 {source="Orphanet:611201"} xref: OMIM:619318 {source="MONDO:equivalentTo"} xref: Orphanet:611201 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -435297,8 +455098,10 @@ is_a: MONDO:0003847 {source="OMIM:619318"} ! hereditary disease [Term] id: MONDO:0036192 name: obsolete EN1-related dorsoventral syndrome +subset: gard_rare {source="GARD:18027"} synonym: "ENDOVE syndrome" EXACT [Orphanet:611223] synonym: "ENDOVES" EXACT [Orphanet:611223] +xref: GARD:18027 {source="MONDO:obsoleteEquivalent", source="Orphanet:611223"} xref: Orphanet:611223 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -435308,7 +455111,9 @@ is_obsolete: true [Term] id: MONDO:0036193 name: parkinsonism with polyneuropathy +subset: gard_rare {source="GARD:18028"} subset: ordo_disorder +xref: GARD:18028 {source="Orphanet:611237"} xref: OMIM:619279 {source="Orphanet:611237", source="MONDO:equivalentTo"} xref: Orphanet:611237 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:619279"} ! hereditary disease @@ -435317,8 +455122,10 @@ is_a: MONDO:0021095 {source="OMIM:619279"} ! parkinsonian disorder [Term] id: MONDO:0036212 name: spastic paraparesis-cataracts-speech delay syndrome +subset: gard_rare {source="GARD:18033"} subset: ordo_disorder synonym: "Fatty acyl-CoA reductase 1 superactivity" EXACT [Orphanet:615938] +xref: GARD:18033 {source="Orphanet:615938"} xref: OMIM:619338 {source="MONDO:equivalentTo"} xref: Orphanet:615938 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -435327,15 +455134,19 @@ is_a: MONDO:0003847 {source="OMIM:619338"} ! hereditary disease [Term] id: MONDO:0036217 name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation +subset: gard_rare {source="GARD:18036"} subset: ordo_subtype_of_a_disorder +xref: GARD:18036 {source="Orphanet:615983"} xref: Orphanet:615983 {source="MONDO:equivalentTo"} is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [Term] id: MONDO:0036218 name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster +subset: gard_rare {source="GARD:18037"} subset: ordo_subtype_of_a_disorder synonym: "Lethal 1p36.33 deletion syndrome" EXACT [Orphanet:615986] +xref: GARD:18037 {source="Orphanet:615986"} xref: Orphanet:615986 {source="MONDO:equivalentTo"} is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal @@ -435568,7 +455379,9 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant [Term] id: MONDO:0036918 name: punctate acrokeratoderma freckle-like pigmentation +subset: gard_rare {source="GARD:4603"} subset: ordo_disease +xref: GARD:4603 {source="Orphanet:99710"} xref: Orphanet:99710 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0019268 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease @@ -435663,11 +455476,13 @@ intersection_of: disease_has_location UBERON:0002048 ! lung [Term] id: MONDO:0037149 name: HSD10 disease, atypical type +subset: gard_rare {source="GARD:16749"} subset: ordo_subtype_of_a_disorder synonym: "HSD10 deficiency, atypical type" EXACT [Orphanet:85295] synonym: "Syndromic X-linked intellectual disability type 10" EXACT [Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" BROAD [Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" BROAD OMO:0003005 [] +xref: GARD:16749 {source="Orphanet:85295"} xref: ICD10CM:G25.5 {source="Orphanet:85295"} xref: Orphanet:85295 {source="MONDO:equivalentTo"} is_a: MONDO:0010327 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! HSD10 mitochondrial disease @@ -435781,7 +455596,9 @@ is_a: MONDO:0024276 {source="NCIT:C7074"} ! glandular cell neoplasm id: MONDO:0037398 name: pneumonia caused by pseudomonas aeruginosa infection def: "A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen." [Orphanet:90066] +subset: gard_rare {source="GARD:13613"} subset: ordo_disorder +xref: GARD:13613 {source="Orphanet:90066"} xref: ICD10CM:J15.1 {source="Orphanet:90066"} xref: Orphanet:90066 {source="MONDO:equivalentTo"} xref: UMLS:C0920182 {source="Orphanet:90066"} @@ -435793,6 +455610,8 @@ intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aerugi [Term] id: MONDO:0037716 name: obsolete rare genetic deafness +subset: gard_rare {source="GARD:19346"} +xref: GARD:19346 {source="Orphanet:96210", source="MONDO:obsoleteEquivalent"} xref: Orphanet:96210 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -436095,6 +455914,8 @@ intersection_of: disease_disrupts GO:0006631 ! fatty acid metabolic process [Term] id: MONDO:0037860 name: obsolete rare systemic or rheumatologic disease +subset: gard_rare {source="GARD:22525"} +xref: GARD:22525 {source="MONDO:obsoleteEquivalent", source="Orphanet:98023"} xref: Orphanet:98023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -436203,6 +456024,8 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited [Term] id: MONDO:0038261 name: obsolete genetic neurological channelopathy of the central nervous system +subset: gard_rare {source="GARD:19568"} +xref: GARD:19568 {source="Orphanet:98743", source="MONDO:obsoleteEquivalent"} xref: Orphanet:98743 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -436211,6 +456034,8 @@ is_obsolete: true [Term] id: MONDO:0038268 name: obsolete autoimmune neurological channelopathy +subset: gard_rare {source="GARD:19575"} +xref: GARD:19575 {source="MONDO:obsoleteEquivalent", source="Orphanet:98750"} xref: Orphanet:98750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436220,11 +456045,13 @@ is_obsolete: true [Term] id: MONDO:0040500 name: glycosylphosphatidylinositol biosynthesis defect 16 +subset: gard_rare {source="GARD:22577"} synonym: "glycosylphosphatidylinositol biosynthesis defect 16" EXACT [OMIM:617816] synonym: "GPIBD16" RELATED ABBREVIATION [OMIM:617816] synonym: "intellectual disability, autosomal recessive 62" RELATED [OMIM:617816] synonym: "mental retardation, autosomal recessive 62" RELATED DEPRECATED [OMIM:617816] xref: DOID:0081223 {source="MONDO:equivalentTo"} +xref: GARD:22577 {source="OMIM:617816"} xref: OMIM:617816 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:617816"} xref: UMLS:C4540521 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617816"} @@ -436234,12 +456061,14 @@ relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynt [Term] id: MONDO:0040501 name: ehlers-danlos syndrome, arthrochalasia type, 2 +subset: gard_rare {source="GARD:16256"} synonym: "EDS 7B" RELATED [OMIM:617821] synonym: "EDS VIIB" RELATED [] synonym: "EDSARTH2" RELATED ABBREVIATION [OMIM:617821] synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [OMIM:617821] synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED [OMIM:617821] xref: DOID:0080728 {source="MONDO:equivalentTo"} +xref: GARD:16256 {source="OMIM:617821"} xref: OMIM:617821 {source="MONDO:equivalentTo"} xref: Orphanet:1899 {source="OMIM:617821"} xref: Orphanet:99876 {source="OMIM:617821"} @@ -436249,8 +456078,10 @@ is_a: MONDO:0020066 {source="OMIM:617821"} ! Ehlers-Danlos syndrome [Term] id: MONDO:0040502 name: glucocorticoid deficiency 5 +subset: gard_rare {source="GARD:16257"} synonym: "GCCD5" RELATED ABBREVIATION [OMIM:617825] synonym: "glucocorticoid deficiency 5" EXACT [OMIM:617825] +xref: GARD:16257 {source="OMIM:617825"} xref: OMIM:617825 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:617825"} xref: UMLS:C4540522 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617825"} @@ -436260,11 +456091,13 @@ is_a: MONDO:0008733 {source="OMIM:617825"} ! familial glucocorticoid deficiency id: MONDO:0040503 name: blepharocheilodontic syndrome 2 def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:16244"} synonym: "BCDS2" RELATED ABBREVIATION [OMIM:617681] synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1" EXACT [] synonym: "BLEPHAROCHEILODONTIC syndrome 2" RELATED [OMIM:617681] synonym: "CTNND1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080346 {source="MONDO:equivalentTo"} +xref: GARD:16244 {source="OMIM:617681"} xref: OMIM:617681 {source="MONDO:equivalentTo", source="DOID:0080346"} xref: UMLS:C4540127 {source="MONDO:equivalentTo", source="OMIM:617681"} is_a: MONDO:0007339 {source="DOID:0080346", source="OMIM:617681"} ! blepharocheilodontic syndrome @@ -436994,7 +456827,6 @@ is_a: MONDO:0023305 ! heavy metal poisoning id: MONDO:0042233 name: disseminated candidiasis def: "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." [Wikipedia:Candidiasis] -subset: gard_rare synonym: "disseminated candida" RELATED [] synonym: "disseminated candidiasis" EXACT [] synonym: "disseminated candidosis" RELATED [] @@ -437306,7 +457138,6 @@ relationship: excluded_subClassOf MONDO:0006736 {source="MESH:D065310"} ! dyspla id: MONDO:0042493 name: gastric non-hodgkin lymphoma def: "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C27235] -subset: gard_rare synonym: "gastric non-Hodgkin lymphoma" EXACT [NCIT:C27235] synonym: "gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235] synonym: "lymphoma, gastric non Hodgkins type" RELATED [GARD:0000089] @@ -437328,7 +457159,6 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0042494 name: childhood malignant melanoma def: "A melanoma that occurs during childhood." [NCIT:C131506] -subset: gard_rare synonym: "childhood melanoma" EXACT [NCIT:C131506] synonym: "childhood melanoma (disease)" EXACT [] synonym: "malignant melanoma, childhood" RELATED [GARD:0000091] @@ -437347,7 +457177,6 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0036491"} ! rare id: MONDO:0042495 name: arteriosclerotic retinopathy def: "A arteriosclerosis disorder that involves the retina." [MONDO:patterns/location] -subset: gard_rare synonym: "arteriosclerosis disorder of retina" EXACT [MONDO:design_pattern] synonym: "arteriosclerosis, retina" RELATED [GARD:0000113] synonym: "arteriosclerotic retinopathy" EXACT [] @@ -437368,7 +457197,6 @@ relationship: disease_has_location UBERON:0004864 ! vasculature of retina id: MONDO:0042496 name: ergotism def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881] -subset: gard_rare synonym: "ergot poisoning" RELATED [MESH:D004881] synonym: "ergot poisonings" RELATED [MESH:D004881] synonym: "ergotism" EXACT [GARD:0000196] @@ -437409,7 +457237,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi [Term] id: MONDO:0042498 name: Ruzicka-Goerz-Anton syndrome -subset: gard_rare synonym: "ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma" RELATED [GARD:0000210] synonym: "ichthyosis deafness intellectual disability skeletal anomalies" RELATED [GARD:0000210, MESH:C537192] synonym: "ichthyosis deafness mental retardation skeletal anomalies" RELATED DEPRECATED [GARD:0000210, MESH:C537192] @@ -437424,6 +457251,7 @@ relationship: excluded_subClassOf MONDO:0019269 {source="MESH:C537192"} ! ichthy [Term] id: MONDO:0042499 name: benign familial neonatal-infantile seizures 1 +subset: gard_rare {source="GARD:856"} synonym: "benign familial infantile convulsions syndrome" RELATED [GARD:0000856] synonym: "benign familial infantile convulsions syndrome 1" RELATED [] synonym: "benign infantile familial convulsions" RELATED [GARD:0000856] @@ -437433,6 +457261,7 @@ synonym: "BFIS1" RELATED ABBREVIATION [GARD:0000856, OMIM:601764] synonym: "convulsions, benign familial infantile, 1" RELATED [OMIM:601764] synonym: "seizures, benign familial infantile, 1" RELATED [GARD:0000856, OMIM:601764] xref: DOID:0081114 {source="MONDO:equivalentTo"} +xref: GARD:856 {source="OMIM:601764"} xref: OMIM:601764 {source="MONDO:equivalentTo", source="GARD:0000856"} xref: Orphanet:306 {source="OMIM:601764", source="GARD:0000856"} xref: UMLS:C0220669 {source="OMIM:601764", source="MONDO:notFoundInDiseaseSubset"} @@ -437443,7 +457272,6 @@ relationship: excluded_subClassOf MONDO:0011140 ! obsolete benign familial neona [Term] id: MONDO:0042600 name: Sammartino-Decreccio syndrome -subset: gard_rare synonym: "Sammartino Decreccio syndrome" RELATED [GARD:0000150] synonym: "superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality" RELATED [GARD:0000150] is_a: MONDO:0002254 ! syndromic disease @@ -437451,7 +457279,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042601 name: Samson-Gardner syndrome -subset: gard_rare synonym: "craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" RELATED [GARD:0000151] synonym: "Samson Gardner syndrome" RELATED [GARD:0000151] xref: MESH:C537230 {source="MONDO:equivalentTo"} @@ -437461,7 +457288,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042602 name: Samson-Viljoen syndrome -subset: gard_rare synonym: "lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia" RELATED [GARD:0000152] synonym: "Samson Viljoen syndrome" RELATED [GARD:0000152] xref: MESH:C537231 {source="MONDO:equivalentTo"} @@ -437471,7 +457297,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042603 name: Sanderson-Fraser syndrome -subset: gard_rare synonym: "proptosis, Robin association, clenched hands, and multiple abnormalities" RELATED [GARD:0000153] synonym: "Sanderson Fraser syndrome" RELATED [GARD:0000153] xref: MESH:C537232 {source="MONDO:equivalentTo"} @@ -437481,7 +457306,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042604 name: Sandhaus-Ben-Ami syndrome -subset: gard_rare synonym: "patella hypoplasia skeletal malformations" RELATED [GARD:0000154] synonym: "Sandhaus Ben-Ami syndrome" RELATED [GARD:0000154] xref: MESH:C537233 {source="MONDO:equivalentTo"} @@ -437491,7 +457315,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042605 name: Y chromosome infertility due to DAZ1 deletion -subset: gard_rare synonym: "DAZ" RELATED ABBREVIATION [GARD:0000185] synonym: "deleted in azoospermia" RELATED [GARD:0000185] synonym: "male sterility due to Y-chromosome deletions" RELATED [GARD:0000185] @@ -437504,7 +457327,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0042705 name: prostatic malacoplakia associated with prostatic abscess -subset: gard_rare synonym: "prostatic malacoplakia with prostatic and seminal vesicle abscess" RELATED [GARD:0000149] xref: MESH:C537244 {source="MONDO:equivalentTo"} xref: UMLS:C2931457 {source="GARD:0000149", source="MONDO:equivalentTo"} @@ -437513,7 +457335,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042717 name: Saul-Wilkes-Stevenson syndrome -subset: gard_rare synonym: "Saul Wilkes Stevenson syndrome" RELATED [GARD:0000161] xref: MESH:C536617 {source="MONDO:equivalentTo"} xref: UMLS:C2931266 {source="MONDO:equivalentTo", source="GARD:0000161"} @@ -437522,7 +457343,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042724 name: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations -subset: gard_rare synonym: "Volcke Soekarman syndrome" RELATED [GARD:0000172] xref: UMLS:C2931595 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0000172"} is_a: MONDO:0002254 ! syndromic disease @@ -437530,7 +457350,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042726 name: macrogyria, pseudobulbar palsy and intellectual disability -subset: gard_rare synonym: "Kuzniecky Andermann syndrome" RELATED [GARD:0000174] xref: MESH:C537722 {source="MONDO:equivalentTo"} xref: UMLS:C2931598 {source="MONDO:equivalentTo", source="GARD:0000174"} @@ -437540,10 +457359,11 @@ is_a: MONDO:0002254 ! syndromic disease id: MONDO:0042727 name: sacrococcygeal teratoma def: "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." [NCIT:C99055] -subset: gard_rare +subset: gard_rare {source="GARD:319"} synonym: "pre-sacral teratoma" EXACT [NCIT:C99055] synonym: "presacral teratoma" EXACT [NCIT:C99055] synonym: "sacrococcygeal teratoma" EXACT [NCIT:C99055] +xref: GARD:319 {source="Orphanet:494421"} xref: HP:0030736 {source="MONDO:otherHierarchy"} xref: NCIT:C99055 {source="MONDO:equivalentTo"} xref: Orphanet:494421 {source="MONDO:equivalentTo"} @@ -437556,7 +457376,6 @@ intersection_of: disease_has_location UBERON:0001350 ! coccyx [Term] id: MONDO:0042902 name: Say-Carpenter syndrome -subset: gard_rare synonym: "metaphyseal dysplasia hypertelorism hypospadias" RELATED [GARD:0000240] synonym: "Say Carpenter syndrome" RELATED [GARD:0000240] is_a: MONDO:0002254 ! syndromic disease @@ -437572,7 +457391,6 @@ replaced_by: MONDO:0015325 [Term] id: MONDO:0042911 name: Schwartz-Cohen-addad-Lambert syndrome -subset: gard_rare synonym: "congenital melanocytosis with myelomeningocele and hydrocephalus" RELATED [GARD:0000253] synonym: "Schwartz Cohen-Addad Lambert syndrome" RELATED [GARD:0000253] xref: MESH:C535835 {source="MONDO:equivalentTo"} @@ -437582,7 +457400,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042912 name: Schlegelberger-Grote syndrome -subset: gard_rare synonym: "Schlegelberger Grote syndrome" RELATED [GARD:0000255] synonym: "syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" RELATED [GARD:0000255] synonym: "triphalangeal thumbs thrombocytopathy deafness" RELATED [GARD:0000255] @@ -437593,7 +457410,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042913 name: Schrander-stumpel-Theunissen-Hulsmans syndrome -subset: gard_rare synonym: "Schrander-Stumpel Theunissen Hulsmans syndrome" RELATED [GARD:0000256] synonym: "vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" RELATED [GARD:0000256] synonym: "vitiligo, psychomotor retardation, cleft palate and facial dysmorphism" RELATED [GARD:0000256] @@ -437612,7 +457428,6 @@ replaced_by: MONDO:0008357 [Term] id: MONDO:0042924 name: Vagneur-Triolle-Ripert syndrome -subset: gard_rare synonym: "hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age" RELATED [GARD:0000271] synonym: "Vagneur Triolle Ripert syndrome" RELATED [GARD:0000271] is_a: MONDO:0002254 ! syndromic disease @@ -437620,7 +457435,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042956 name: Saal-Bulas syndrome -subset: gard_rare synonym: "ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" RELATED [GARD:0000311] synonym: "Saal Bulas syndrome" RELATED [GARD:0000311] xref: MESH:C537193 {source="MONDO:equivalentTo"} @@ -437630,7 +457444,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042960 name: Sackey-Sakati-Aur syndrome -subset: gard_rare synonym: "Aur syndrome" RELATED [GARD:0000315] synonym: "multiple dysmorphic features and pancytopenia" RELATED [GARD:0000315] synonym: "pancytopenia multiple congenital anomalies" RELATED [GARD:0000315] @@ -437642,7 +457455,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0042961 name: sacral hemangiomas multiple congenital abnormalities -subset: gard_rare xref: MESH:C537222 {source="MONDO:equivalentTo"} xref: UMLS:C2931443 {source="MONDO:equivalentTo", source="GARD:0000317"} is_a: MONDO:0016063 {source="MESH:C537222"} ! Cowden disease @@ -437650,7 +457462,6 @@ is_a: MONDO:0016063 {source="MESH:C537222"} ! Cowden disease [Term] id: MONDO:0042962 name: Slti-Salem syndrome -subset: gard_rare synonym: "hypogonadism and frontoparietal alopecia" RELATED [GARD:0000324, MESH:C536673] synonym: "hypogonadotropic hypogonadism alopecia" RELATED [GARD:0000324, MESH:C536673] synonym: "Slti Salem syndrome" RELATED [GARD:0000324] @@ -437752,7 +457563,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0042969 name: partial duplication of the long arm of chromosome 12 def: "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001926] -subset: gard_rare synonym: "12q duplication" RELATED [GARD:0001926] synonym: "12q trisomy" RELATED [GARD:0001926] synonym: "chromosome 12q duplication" RELATED [GARD:0001926] @@ -437770,7 +457580,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0042970 name: disorder of glutamate decarboxylase def: "A disease that has its basis in the disruption of glutamate decarboxylase activity." [MONDO:design_pattern] -subset: gard_rare synonym: "deficiency of glutamate decarboxylase" EXACT [GTR:AN0168165] synonym: "disorder of glutamate decarboxylase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "glutamate decarboxylase activity disease" EXACT [MONDO:design_pattern] @@ -437789,7 +457598,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0004351 ! glutamate decar id: MONDO:0042971 name: congenital herpes virus infection def: "An infectious embryofetopathy caused by infection with Herpesviridae." [MONDO:patterns/specific_infectious_disease_by_agent] -subset: gard_rare synonym: "congenital herpes virus infection" EXACT [] synonym: "congenital infection caused by herpes virus" EXACT [] synonym: "Herpesviridae caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -437802,7 +457610,6 @@ intersection_of: MONDO:0100332 NCBITaxon:10292 ! disease has primary infectious [Term] id: MONDO:0042972 name: meningococcemia -subset: gard_rare synonym: "meningococcal septicemia" RELATED [] synonym: "meningococcemia" EXACT [] xref: ICD9:036.2 @@ -437816,7 +457623,6 @@ intersection_of: disease_has_feature HP:0100806 ! Sepsis id: MONDO:0042973 name: familial osteosclerosis def: "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -subset: gard_rare synonym: "hereditary osteosclerosis" EXACT [MONDO:patterns/hereditary] intersection_of: MONDO:0002933 ! osteosclerosis intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -437825,7 +457631,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0042974 name: parainfluenza virus type 3 infectious disease def: "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." [GARD:0004215] -subset: gard_rare synonym: "human parainfluenza virus type 3" RELATED [GARD:0004215] synonym: "human respirovirus 3 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "human respirovirus 3 disease or disorder" EXACT [] @@ -437845,7 +457650,6 @@ intersection_of: MONDO:0100332 NCBITaxon:11216 ! disease has primary infectious [Term] id: MONDO:0042975 name: pseudoachondroplastic dysplasia 2 -subset: gard_rare synonym: "pseudoachondroplastic dysplasia 2" EXACT [MESH:C535820] synonym: "recessive pseudoachondroplasia" RELATED [GARD:0004542, MESH:C535820] synonym: "spondyloepiphyseal dysplasia pseudoachondroplastic 2" RELATED [GARD:0004542, MESH:C535820] @@ -437871,7 +457675,6 @@ is_a: MONDO:0024298 {source="MESH:D014804", source="NCIT:C35129"} ! vitamin defi [Term] id: MONDO:0042977 name: trichoepithelioma, multiple familial, 1 -subset: gard_rare synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606] synonym: "epithelioma adenoides cysticum of Brooke" RELATED [OMIM:601606] synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606] @@ -437899,7 +457702,6 @@ is_a: MONDO:0008223 {source="OMIM:170400"} ! hypokalemic periodic paralysis [Term] id: MONDO:0042980 name: Westphal disease -subset: gard_rare synonym: "HD- Westphal variant" RELATED [GARD:0005557, GTR:AN0099344] synonym: "Westphal disease" EXACT [GTR:AN0099343, MESH:C536694] synonym: "Westphal variant of Huntington's disease" RELATED [GARD:0005557, GTR:AN0099345, MESH:C536694] @@ -437919,7 +457721,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0042981 name: aortic valve stenosis def: "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever." [GARD:0005830] -subset: gard_rare synonym: "aortic stenosis" EXACT [DOID:1712, GARD:0005830, MONDO:0004978] synonym: "AS" EXACT ABBREVIATION [DOID:1712] synonym: "congenital aortic valve stenosis" RELATED EXCLUDE [DOID:1712] @@ -437960,7 +457761,6 @@ id: MONDO:0042982 name: GATA2 deficiency with susceptibility to MDS/AML def: "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." [https://github.com/monarch-initiative/mondo/issues/261, PMID:25397911, PMID:25619630, PMID:25624456, PMID:28637621] comment: The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity -subset: gard_rare subset: predisposition synonym: "GATA2 deficiency" EXACT [GARD:0013373, NCIT:C126349] synonym: "GATA2 deficiency with susceptibility to MDS/AML" EXACT CLINGEN_PREFERRED [] @@ -438036,7 +457836,9 @@ intersection_of: disease_has_feature HP:0000952 ! Jaundice id: MONDO:0043005 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:20291"} synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] +xref: GARD:20291 {source="MONDO:obsoleteEquivalent", source="Orphanet:183533"} xref: Orphanet:183533 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -438062,9 +457864,11 @@ consider: MONDO:0021147 id: MONDO:0043008 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:21507"} synonym: "genetic MCA" EXACT [Orphanet:330206] synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary] +xref: GARD:21507 {source="MONDO:obsoleteEquivalent", source="Orphanet:330206"} xref: Orphanet:330206 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -438077,15 +457881,16 @@ id: MONDO:0043009 name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome def: "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21947"} subset: ordo_group_of_disorders synonym: "genetic lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] +xref: GARD:21947 {source="Orphanet:471383"} xref: Orphanet:471383 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis [Term] id: MONDO:0043069 name: Zerres Rietschel Majewski syndrome -subset: gard_rare synonym: "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability" RELATED [GARD:0000338] synonym: "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation" RELATED DEPRECATED [GARD:0000338] xref: MESH:C536724 {source="MONDO:equivalentTo"} @@ -438099,7 +457904,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043071 name: Zazam Sheriff Phillips syndrome -subset: gard_rare synonym: "aniridia, ectopia lentis, abnormal upper incisors and intellectual disability" RELATED [GARD:0000339, MESH:C536723] synonym: "aniridia, ectopia lentis, abnormal upper incisors and mental retardation" RELATED DEPRECATED [GARD:0000339, MESH:C536723] synonym: "aniridia, lens luxation, intellectual disability" RELATED [MESH:C536723] @@ -438115,7 +457919,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043073 name: Zadik-Barak-Levin syndrome -subset: gard_rare synonym: "dermoid cysts, hypothyroidism, cleft palate and hypodontia" RELATED [GARD:0000340] synonym: "dermoid cysts, hypothyroidism, cleft palate, and hypodontia" RELATED [MESH:C536721] xref: MESH:C536721 {source="MONDO:equivalentTo"} @@ -438129,7 +457932,6 @@ relationship: disease_has_feature MONDO:0016064 {source="MESH:C536721"} ! cleft [Term] id: MONDO:0043075 name: neuroaxonal dystrophy renal tubular acidosis -subset: gard_rare synonym: "CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED OMO:0003005 [] synonym: "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED [GARD:0000349] synonym: "Maccario Mena weir syndrome" RELATED [GARD:0000349, MESH:C537386] @@ -438141,7 +457943,6 @@ is_a: MONDO:0002283 {source="MESH:C537386"} ! neuroaxonal dystrophy [Term] id: MONDO:0043077 name: weinstein kliman scully syndrome -subset: gard_rare synonym: "cardiomyopathy, hypogonadism and metabolic anomalies" RELATED [MESH:C536688] synonym: "primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities" RELATED [GARD:0000392] xref: MESH:C536688 {source="MONDO:equivalentTo"} @@ -438153,7 +457954,6 @@ is_a: MONDO:0019052 {source="MESH:C536688"} ! inborn errors of metabolism [Term] id: MONDO:0043079 name: acute articular rheumatism -subset: gard_rare synonym: "acute articular rheumatism" EXACT [] synonym: "acute rheumatic arthritis" EXACT [] synonym: "acute rheumatism" RELATED [GARD:0000518] @@ -438164,7 +457964,6 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0043083 name: coronal synostosis, syndactyly and jejunal atresia -subset: gard_rare synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia" RELATED [GARD:0001532] xref: MESH:C536445 {source="MONDO:equivalentTo"} xref: UMLS:C2931194 {source="MONDO:equivalentTo"} @@ -438173,7 +457972,6 @@ is_a: MONDO:0001411 {source="MESH:C536445"} ! synostosis [Term] id: MONDO:0043085 name: chromosome 1, uniparental disomy 1q12 q21 -subset: gard_rare synonym: "Mosaic trisomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085] synonym: "uniparental disomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085] xref: MESH:C538085 {source="MONDO:equivalentTo"} @@ -438186,7 +457984,6 @@ relationship: disease_arises_from_structure CHR:9606-chr1q12-q21 {source="https: [Term] id: MONDO:0043087 name: thickened earlobes with conductive deafness from incus-stapes abnormalities -subset: gard_rare synonym: "conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" RELATED [GARD:0002034, MESH:C536511] synonym: "Schweitzer Kemink Graham syndrome" RELATED [GARD:0002034] synonym: "thickened earlobes with conductive deafness from incus-stapes abnormalities" EXACT [MESH:C536511] @@ -438198,7 +457995,6 @@ is_a: MONDO:0002254 ! syndromic disease id: MONDO:0043089 name: acute posterior multifocal placoid pigment epitheliopathy def: "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." [GARD:0002183] -subset: gard_rare synonym: "acute multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183] synonym: "acute placoid pigment epitheliopathy" RELATED [GARD:0002183] synonym: "acute posterior multifocal placoid pigment epitheliopathy" EXACT [] @@ -438217,7 +458013,6 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0043094 name: ichthyosis, follicular -subset: gard_rare synonym: "follicular ichthyosis" EXACT [GARD:0002355] xref: SCTID:238627002 {source="MONDO:equivalentTo"} xref: UMLS:C0406344 {source="GARD:0002355", source="MONDO:notFoundInDiseaseSubset"} @@ -438228,7 +458023,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043096 name: holoacardius amorphus -subset: gard_rare synonym: "amorphous globosus" RELATED [] synonym: "amorphus globosus" RELATED [] synonym: "fetus anideus" RELATED [] @@ -438242,7 +458036,6 @@ is_a: MONDO:0022357 ! congenital acardia [Term] id: MONDO:0043099 name: Hordnes Engebretsen Knudtson syndrome -subset: gard_rare synonym: "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability" RELATED [GARD:0002736] synonym: "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation" RELATED DEPRECATED [GARD:0002736] xref: MESH:C536067 {source="MONDO:equivalentTo"} @@ -438257,7 +458050,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0043101 name: hypothalamic dysfunction def: "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." [GARD:0002932] -subset: gard_rare synonym: "hypothalamic dysfunction" EXACT [] synonym: "hypothalamic syndrome" EXACT [] xref: SCTID:111568001 {source="MONDO:equivalentTo"} @@ -438268,7 +458060,6 @@ is_a: MONDO:0002150 ! hypothalamic disorder id: MONDO:0043103 name: hypothyroidism due to iodide transport defect def: "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." [NCIT:C121747] -subset: gard_rare synonym: "hypothyroidism due to iodide concentration defect" RELATED [] synonym: "hypothyroidism due to iodide transport defect" EXACT [] synonym: "iodide Transport defect" EXACT [NCIT:C121747] @@ -438284,7 +458075,6 @@ is_a: MONDO:0018612 {source="NCIT:C121747"} ! congenital hypothyroidism [Term] id: MONDO:0043106 name: ichthyosis linearis circumflexa -subset: gard_rare synonym: "ichthyosis linearis circumflexa" EXACT [] xref: SCTID:54336006 {source="MONDO:equivalentTo"} xref: UMLS:C0265962 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0002967"} @@ -438300,7 +458090,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043108 name: infantile striato thalamic degeneration -subset: gard_rare xref: Orphanet:1575 {source="GARD:0003004", source="MONDO:equivalentObsolete"} is_a: MONDO:0002254 ! syndromic disease relationship: has_characteristic HP:0003593 ! Infantile onset @@ -438308,7 +458097,6 @@ relationship: has_characteristic HP:0003593 ! Infantile onset [Term] id: MONDO:0043110 name: jones hersh yusk syndrome -subset: gard_rare synonym: "aplasia cutis cleft palate epidermolysis" RELATED [GARD:0003055, MESH:C535885] synonym: "aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" RELATED [GARD:0003055, MESH:C535885] synonym: "ptosis, ectropion, thin skin, beaked nose" RELATED [GARD:0003055, MESH:C535885] @@ -438319,7 +458107,6 @@ is_a: MONDO:0019287 {source="MESH:C535885"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0043112 name: lachiewicz sibley syndrome -subset: gard_rare synonym: "hereditary renal disease and preauricular pits" RELATED [GARD:0003157, MESH:C538131] xref: MESH:C538131 {source="MONDO:equivalentTo"} xref: UMLS:C2931742 {source="GARD:0003157", source="MONDO:equivalentTo"} @@ -438328,7 +458115,6 @@ is_a: MONDO:0005240 {source="MESH:C538131"} ! kidney disorder [Term] id: MONDO:0043114 name: Landy-Donnai syndrome -subset: gard_rare synonym: "hydrops, ectrodactyly, syndactyly, duplication of the great toes" RELATED [GARD:0003172, MESH:C537266] xref: MESH:C537266 {source="MONDO:equivalentTo"} xref: UMLS:C2931460 {source="MONDO:equivalentTo", source="GARD:0003172"} @@ -438337,7 +458123,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043116 name: Iida Kannari syndrome -subset: gard_rare synonym: "craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" RELATED [GARD:0003249, MESH:C536284] xref: MESH:C536284 {source="MONDO:equivalentTo"} xref: UMLS:C2931159 {source="GARD:0003249", source="MONDO:equivalentTo"} @@ -438348,7 +458133,6 @@ relationship: excluded_subClassOf MONDO:0016064 {source="MESH:C536284"} ! cleft [Term] id: MONDO:0043120 name: male pseudohermaphroditism due to defective lh molecule -subset: gard_rare xref: HGNC:6584 {source="GARD:0003356"} xref: MESH:C535692 {source="MONDO:equivalentTo"} xref: UMLS:C1835303 {source="GARD:0003356", source="MONDO:equivalentTo"} @@ -438357,7 +458141,6 @@ is_a: MONDO:0020040 {source="MESH:C535692"} ! 46,XY disorder of sex development [Term] id: MONDO:0043123 name: massa casaer ceulemans syndrome -subset: gard_rare synonym: "arthrogryposis multiplex congenita associated with lissencephaly" RELATED [GARD:0003407, MESH:C536031] xref: MESH:C536031 {source="MONDO:equivalentTo"} xref: UMLS:C2931090 {source="MONDO:equivalentTo", source="GARD:0003407"} @@ -438367,7 +458150,6 @@ is_a: MONDO:0018838 {source="MESH:C536031"} ! lissencephaly spectrum disorders [Term] id: MONDO:0043125 name: mcpherson robertson cammarano syndrome -subset: gard_rare synonym: "dominantly inherited ptosis, strabismus and ectopic pupils" RELATED [GARD:0003431, MESH:C538161] xref: MESH:C538161 {source="MONDO:equivalentTo"} xref: UMLS:C2931751 {source="GARD:0003431", source="MONDO:equivalentTo"} @@ -438376,7 +458158,6 @@ is_a: MONDO:0000728 {source="MESH:C538161"} ! ptosis [Term] id: MONDO:0043127 name: mehta lewis patton syndrome -subset: gard_rare synonym: "congenital heart disease, ptosis, hypodontia, and craniosynostosis" RELATED [GARD:0003450, MESH:C536147] xref: MESH:C536147 {source="MONDO:equivalentTo"} xref: UMLS:C2931120 {source="MONDO:equivalentTo", source="GARD:0003450"} @@ -438388,7 +458169,6 @@ is_a: MONDO:0015469 {source="MESH:C536147"} ! craniosynostosis [Term] id: MONDO:0043129 name: merlob grunebaum reisner syndrome -subset: gard_rare synonym: "familial opposable triphalangeal thumbs associated with duplication of the big toes" RELATED [GARD:0003545] xref: MESH:C537461 {source="MONDO:equivalentTo"} xref: UMLS:C2931499 {source="GARD:0003545", source="MONDO:equivalentTo"} @@ -438397,7 +458177,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043131 name: Michels Caskey syndrome -subset: gard_rare synonym: "Mullerian aplasia with hypoplastic thumbs" RELATED [GARD:0003590, MESH:C537576] synonym: "Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities" RELATED [GARD:0003590] xref: MESH:C537576 {source="MONDO:equivalentTo"} @@ -438407,7 +458186,6 @@ is_a: MONDO:0017576 {source="MESH:C537576"} ! 46,XX disorder of sex development [Term] id: MONDO:0043133 name: microcephaly micropenis convulsions -subset: gard_rare synonym: "microcephaly micropenis convulsions" EXACT [MESH:C537540] synonym: "microcephaly micropenis seizures" RELATED [GARD:0003628, MESH:C537540] synonym: "microcephaly seizures genital hypoplasia" RELATED [GARD:0003628] @@ -438418,7 +458196,6 @@ is_a: MONDO:0001386 {source="MESH:C537540"} ! visual epilepsy [Term] id: MONDO:0043135 name: microcephaly microphthalmos blindness -subset: gard_rare xref: MESH:C537541 {source="MONDO:equivalentTo"} xref: UMLS:C2931526 {source="MONDO:equivalentTo", source="GARD:0003629"} is_a: MONDO:0001941 {source="MESH:C537541"} ! blindness (disorder) @@ -438427,7 +458204,6 @@ is_a: MONDO:0021129 {source="MESH:C537541"} ! microphthalmia [Term] id: MONDO:0043137 name: isolated microcephaly -subset: gard_rare synonym: "microcephaly, non-syndromic" RELATED [] synonym: "Nonsyndromal microcephaly" RELATED [GARD:0003630, MESH:C537542] synonym: "nonsyndromic microcephaly" RELATED [GARD:0003630, MESH:C537542] @@ -438442,7 +458218,6 @@ intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation [Term] id: MONDO:0043139 name: microcephaly sparse hair intellectual disability seizures -subset: gard_rare xref: MESH:C537545 {source="MONDO:equivalentTo"} xref: UMLS:C2931530 {source="GARD:0003633", source="MONDO:equivalentTo"} is_a: MONDO:0001386 {source="MESH:C537545"} ! visual epilepsy @@ -438454,7 +458229,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043141 name: microdontia hypodontia short stature -subset: gard_rare synonym: "microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality" RELATED [GARD:0003638] xref: MESH:C537553 {source="MONDO:equivalentTo"} xref: UMLS:C2931532 {source="MONDO:equivalentTo", source="GARD:0003638"} @@ -438464,13 +458238,14 @@ is_a: MONDO:0015514 {source="MESH:C537553"} ! hereditary endocrine growth diseas [Term] id: MONDO:0043143 name: microphthalmia microtia fetal akinesia -subset: gard_rare +subset: gard_rare {source="GARD:3650"} subset: ordo_malformation_syndrome synonym: "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED [GARD:0003650] synonym: "foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED OMO:0003005 [] synonym: "microphthalmia-microtia-fetal akinesia" RELATED [GARD:0003650] synonym: "Thomas Jewett Raines syndrome" RELATED [GARD:0003650] synonym: "Thomas-Jewett-Raines syndrome" RELATED [GARD:0003650] +xref: GARD:3650 {source="Orphanet:2547"} xref: MESH:C536513 {source="MONDO:equivalentTo"} xref: Orphanet:2547 {source="MONDO:equivalentTo", source="GARD:0003650"} xref: UMLS:C2931224 {source="MONDO:equivalentTo", source="Orphanet:2547"} @@ -438482,7 +458257,6 @@ is_a: MONDO:0043009 {source="Orphanet:2547"} ! hereditary lethal multiple congen [Term] id: MONDO:0043152 name: negative rheumatoid factor polyarthritis -subset: gard_rare synonym: "RF-ve CP" RELATED [GARD:0003931, MESH:C538347] synonym: "rheumatoid factor negative erosive chronic polyarthritis" RELATED [GARD:0003931, MESH:C538347] synonym: "rheumatoid factor-negative polyarthritis" RELATED [GARD:0003931, MESH:C538347] @@ -438493,7 +458267,6 @@ is_a: MONDO:0005578 {source="MESH:C538347"} ! arthritic joint disease [Term] id: MONDO:0043154 name: neonatal ovarian cyst -subset: gard_rare synonym: "fetal ovarian cyst" RELATED [GARD:0003934, MESH:C536396] synonym: "foetal ovarian cyst" RELATED OMO:0003005 [] xref: MESH:C536396 {source="MONDO:equivalentTo"} @@ -438503,7 +458276,6 @@ is_a: MONDO:0003282 {source="MESH:C536396"} ! ovarian cyst [Term] id: MONDO:0043156 name: nephrotic syndrome ocular anomalies -subset: gard_rare synonym: "familial infantile nephrotic syndrome with ocular abnormalities" RELATED [GARD:0003945, MESH:C536403] synonym: "Glastre Cochat Bouvier syndrome" RELATED [GARD:0003945, MESH:C536403] xref: MESH:C536403 {source="MONDO:equivalentTo"} @@ -438513,7 +458285,6 @@ is_a: MONDO:0005377 {source="MESH:C536403"} ! nephrotic syndrome [Term] id: MONDO:0043162 name: pagon stephan syndrome -subset: gard_rare synonym: "septo-optic dysplasia with digital anomalies" RELATED [GARD:0004195, MESH:C538100] xref: MESH:C538100 {source="MONDO:equivalentTo"} xref: Orphanet:1853 {source="GARD:0004195"} @@ -438523,9 +458294,10 @@ is_a: MONDO:0008428 {source="MESH:C538100"} ! septooptic dysplasia [Term] id: MONDO:0043164 name: palmer pagon syndrome -subset: gard_rare +subset: gard_rare {source="GARD:4199"} synonym: "familial hydrocephalus with a low-insertion umbilicus" RELATED [GARD:0004199] synonym: "hydrocephaly - low insertion umbilicus" RELATED [GARD:0004199] +xref: GARD:4199 {source="Orphanet:2184"} xref: MESH:C538107 {source="MONDO:equivalentTo"} xref: Orphanet:2184 {source="MONDO:equivalentTo", source="GARD:0004199"} xref: UMLS:C2931734 {source="MONDO:equivalentTo", source="GARD:0004199"} @@ -438534,7 +458306,6 @@ is_a: MONDO:0001150 {source="MESH:C538107"} ! hydrocephalus [Term] id: MONDO:0043166 name: pancreatic lipomatosis duodenal stenosis -subset: gard_rare synonym: "pancreatic lipomatosis and duodenal atresia" RELATED [GARD:0004208, MESH:C535839] xref: MESH:C535839 {source="MONDO:equivalentTo"} xref: UMLS:C2931040 {source="GARD:0004208", source="MONDO:equivalentTo"} @@ -438545,7 +458316,6 @@ is_a: MONDO:0006574 {source="MESH:C535839"} ! lipomatosis [Term] id: MONDO:0043168 name: panostotic fibrous dysplasia -subset: gard_rare synonym: "unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia" RELATED [GARD:0004213] xref: MESH:C537164 {source="MONDO:equivalentTo"} xref: UMLS:C2931430 {source="GARD:0004213", source="MONDO:equivalentTo"} @@ -438555,7 +458325,6 @@ is_a: MONDO:0009692 {source="MESH:C537164"} ! primary myelofibrosis [Term] id: MONDO:0043170 name: Pavone Fiumara Rizzo syndrome -subset: gard_rare synonym: "Pavone Fiumara Rizzo syndrome" EXACT [GARD:0004262] synonym: "syndactyly type 1 with cataracts and intellectual disability" RELATED [MESH:C536313] synonym: "syndactyly type 1 with cataracts and mental retardation" RELATED DEPRECATED [MESH:C536313] @@ -438566,7 +458335,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043172 name: pfeiffer rockelein syndrome -subset: gard_rare synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" RELATED [GARD:0004306, MESH:C537890] xref: MESH:C537890 {source="MONDO:equivalentTo"} xref: UMLS:C2931656 {source="MONDO:equivalentTo", source="GARD:0004306"} @@ -438575,7 +458343,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043174 name: Pfeiffer Tietze Welte syndrome -subset: gard_rare synonym: "sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th" RELATED [GARD:0004308] xref: MESH:C537891 {source="MONDO:equivalentTo"} xref: UMLS:C2931657 {source="MONDO:equivalentTo", source="GARD:0004308"} @@ -438587,7 +458354,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043176 name: phosphoribosylpyrophosphate synthetase deficiency -subset: gard_rare synonym: "deafness hyperuricemia neurologic ataxia" EXACT [MONDO:0022939, MONDO:0022940] synonym: "PRPP synthetase deficiency" RELATED [GARD:0004337] xref: HGNC:9462 {source="GARD:0004337", source="MONDO:gene"} @@ -438604,7 +458370,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4337/phospho [Term] id: MONDO:0043179 name: piepkorn karp hickok syndrome -subset: gard_rare synonym: "short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect" RELATED [GARD:0004345] xref: MESH:C535774 {source="MONDO:equivalentTo"} xref: UMLS:C2931016 {source="GARD:0004345", source="MONDO:equivalentTo"} @@ -438621,7 +458386,6 @@ replaced_by: MONDO:0009958 [Term] id: MONDO:0043183 name: podder-tolmie syndrome -subset: gard_rare synonym: "meningoencephalocele, arthrogryposis and hypoplastic thumbs" RELATED [GARD:0004387, MESH:C537518] xref: MESH:C537518 {source="MONDO:equivalentTo"} xref: UMLS:C2931519 {source="MONDO:equivalentTo", source="GARD:0004387"} @@ -438630,7 +458394,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043185 name: pointer syndrome -subset: gard_rare synonym: "skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" RELATED [GARD:0004395, MESH:C536323] xref: MESH:C536323 {source="MONDO:equivalentTo"} xref: UMLS:C0796118 {source="MONDO:equivalentTo", source="GARD:0004395"} @@ -438639,7 +458402,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043187 name: pulmonary artery agenesis -subset: gard_rare synonym: "agenesis of pulmonary artery" EXACT [] synonym: "congenital absence of pulmonary artery" RELATED [] synonym: "pulmonary artery absent" RELATED [] @@ -438652,7 +458414,6 @@ relationship: disease_has_location UBERON:0002012 ! pulmonary artery [Term] id: MONDO:0043191 name: radial defect robin sequence -subset: gard_rare synonym: "bilateral radial defects club foot deformity micrognathia and cleft palate" RELATED [GARD:0004624] synonym: "bilateral radial defects, club foot deformity, micrognathia and cleft palate" RELATED [MESH:C536261] synonym: "Bruce Winship syndrome" RELATED [GARD:0004624] @@ -438664,7 +458425,6 @@ is_a: MONDO:0009869 {source="MESH:C536261"} ! isolated Pierre-Robin syndrome [Term] id: MONDO:0043193 name: richieri-costa guion-almeida cohen syndrome -subset: gard_rare synonym: "acrofacial dysostosis Richieri Costa Guion-Almeida type" RELATED [MESH:C535676] synonym: "overgrowth - craniosynostosis - arthrogryposis" RELATED [GARD:0004712] synonym: "Richieri Costa Guion-Almeida dwarfism" RELATED [MESH:C535676] @@ -438677,7 +458437,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043195 name: Rubinstein Taybi like syndrome -subset: gard_rare synonym: "Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses" RELATED [GARD:0004745] xref: MESH:C535877 {source="MONDO:equivalentTo"} xref: OMIM:180850 {source="GARD:0004745", source="MONDO:equivalentObsolete"} @@ -438688,7 +458447,6 @@ relationship: disease_shares_features_of MONDO:0019188 ! Rubinstein-Taybi syndro [Term] id: MONDO:0043197 name: ruvalcaba churesigaew myhre syndrome -subset: gard_rare synonym: "onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis" RELATED [GARD:0004747] xref: MESH:C537190 {source="MONDO:equivalentTo"} xref: UMLS:C2931437 {source="GARD:0004747", source="MONDO:equivalentTo"} @@ -438697,7 +458455,6 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0043199 name: short limb dwarf lethal colavita kozlowski type -subset: gard_rare synonym: "Colavita Kozlowski syndrome" RELATED [GARD:0004823, MESH:C537597] xref: MESH:C537597 {source="MONDO:equivalentTo"} xref: UMLS:C2931544 {source="MONDO:equivalentTo", source="GARD:0004823"} @@ -438707,7 +458464,6 @@ is_a: MONDO:0002254 ! syndromic disease id: MONDO:0043206 name: trichostasis spinulosa def: "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." [GARD:0005269] -subset: gard_rare synonym: "elevated dark spiny papules on the face or trunk" RELATED [GARD:0005269] synonym: "trichostasis spinulosa" EXACT [] xref: MESH:C536558 {source="MONDO:equivalentTo"} @@ -438720,7 +458476,6 @@ is_a: MONDO:0006566 {source="MESH:C536558"} ! keratosis [Term] id: MONDO:0043207 name: urethral obstruction sequence -subset: gard_rare synonym: "early urethral obstruction sequence" EXACT [GARD:0005428, MESH:C536477] synonym: "EUOS" RELATED ABBREVIATION [GARD:0005428] synonym: "renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction" RELATED [GARD:0005428] @@ -438735,7 +458490,6 @@ id: MONDO:0043209 name: albinism def: "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." [NCIT:C84543-modified] comment: This groups multiple types, including those restricted to the eyes, the skin or both -subset: gard_rare synonym: "albinism" EXACT [NCIT:C84543] xref: ICD10CM:E70.3 {source="MONDO:equivalentTo"} xref: MESH:D000417 {source="MONDO:equivalentTo"} @@ -438764,7 +458518,6 @@ intersection_of: disease_has_location UBERON:0002049 ! vasculature id: MONDO:0043219 name: migraine with brainstem aura def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." [NCIT:C117013] -subset: gard_rare synonym: "basilar artery migraine" RELATED [GARD:0005896] synonym: "basilar artery migraine with aura" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "basilar migraine" EXACT [] @@ -438784,7 +458537,6 @@ is_a: MONDO:0005475 {source="MONDO:Redundant"} ! migraine with aura id: MONDO:0043224 name: multi-infarct dementia def: "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." [NCIT:C34522] -subset: gard_rare synonym: "arteriosclerotic dementia" RELATED [] synonym: "Binswanger disease" RELATED [GARD:0005925] synonym: "Binswanger's disease" RELATED [GARD:0005925] @@ -438816,7 +458568,6 @@ is_a: MONDO:0004648 {source="MESH:D015161", source="NCIT:C34522"} ! vascular dem [Term] id: MONDO:0043226 name: postpartum amenorrhea-galactorrhea syndrome -subset: gard_rare synonym: "Chiari Frommel syndrome" RELATED [MESH:D002640] synonym: "Chiari-frommel syndrome" RELATED [] synonym: "disease, Frommel" RELATED [MESH:D002640] @@ -438841,7 +458592,6 @@ is_a: MONDO:0044013 {source="MESH:D002640/inferred"} ! puerperal disorder id: MONDO:0043230 name: ciguatera fish poisoning def: "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841] -subset: gard_rare synonym: "ciguatera" RELATED [MESH:D036841] synonym: "ciguatera fish poisoning" EXACT [MESH:D036841] synonym: "ciguatera fish Poisonings" RELATED [MESH:D036841] @@ -438862,7 +458612,6 @@ is_a: MONDO:0029000 {source="MESH:D036841/inferred"} ! poisoning id: MONDO:0043233 name: exfoliative dermatitis def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873] -subset: gard_rare synonym: "Dermatitides, exfoliative" RELATED [MESH:D003873] synonym: "dermatitis exfoliativa" RELATED [MESH:D003873] synonym: "erythroderma" RELATED [MESH:D003873] @@ -438879,7 +458628,6 @@ is_a: MONDO:0002406 {source="MESH:D003873"} ! dermatitis id: MONDO:0043237 name: glossodynia def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926] -subset: gard_rare synonym: "glossalgia" RELATED [] synonym: "Glossalgias" RELATED [MESH:D005926] synonym: "glossodynia" EXACT [MESH:D005926] @@ -438898,7 +458646,6 @@ is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurologi id: MONDO:0043240 name: hemophilic arthropathy def: "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." [NCIT:C27039] -subset: gard_rare synonym: "arthropathy in haemophilia" RELATED OMO:0003005 [] synonym: "arthropathy in hemophilia" RELATED [] synonym: "hemophilic arthritis" EXACT [NCIT:C27039] @@ -438913,7 +458660,6 @@ relationship: disease_has_feature MONDO:0018660 {source="NCIT:C27039"} ! hemophi id: MONDO:0043243 name: leukoplakia def: "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3186] -subset: gard_rare synonym: "keratotic plaque" EXACT [NCIT:C3186] synonym: "lesion, leukoplakic" RELATED [MESH:D007971] synonym: "lesions, leukoplakic" RELATED [MESH:D007971] @@ -438934,7 +458680,6 @@ relationship: disease_has_location UBERON:0000344 ! mucosa id: MONDO:0043247 name: Mallory-Weiss syndrome def: "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." [NCIT:C84881] -subset: gard_rare synonym: "gastro-esophageal laceration-hemorrhage syndrome" RELATED [] synonym: "gastroesophageal laceration haemorrhage" RELATED OMO:0003005 [] synonym: "gastroesophageal laceration hemorrhage" RELATED [MESH:D008309] @@ -438973,7 +458718,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0043251 name: odontoma def: "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." [NCIT:C3287] -subset: gard_rare synonym: "ameloblastic fibro-odontoma" RELATED [MESH:D009810] synonym: "ameloblastic fibro-odontomas" RELATED [MESH:D009810] synonym: "compound odontoma" RELATED [MESH:D009810] @@ -439002,7 +458746,6 @@ relationship: excluded_subClassOf MONDO:0021192 {source="MESH:D009810"} ! odonto [Term] id: MONDO:0043254 name: papular urticaria -subset: gard_rare synonym: "bullous papular urticaria - type" RELATED [GARD:0007322, MESH:C537169] synonym: "lichen urticatus" RELATED [] synonym: "papular urticaria" EXACT [] @@ -439018,7 +458761,6 @@ is_a: MONDO:0006617 {source="MESH:C537169"} ! vesiculobullous skin disease [Term] id: MONDO:0043257 name: pemphigus and fogo selvagem -subset: gard_rare synonym: "amendola's syndrome" RELATED [] synonym: "Brazilian pemphigus" RELATED [GARD:0007353, MESH:C535551] synonym: "Brazilian pemphigus foliaceus" EXACT [GARD:0007353, MESH:C535551] @@ -439040,7 +458782,6 @@ is_a: MONDO:0019324 ! pemphigus foliaceus id: MONDO:0043264 name: post-traumatic epilepsy def: "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" [MESH:D004834] -subset: gard_rare synonym: "concussive convulsion" RELATED [MESH:D004834] synonym: "concussive convulsions" RELATED [MESH:D004834] synonym: "convulsion, concussive" RELATED [MESH:D004834] @@ -439088,7 +458829,6 @@ is_a: MONDO:0005027 {source="MESH:D004834"} ! epilepsy id: MONDO:0043267 name: rheumatoid vasculitis def: "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." [MESH:D056653] -subset: gard_rare synonym: "rheumatoid Vasculitides" RELATED [MESH:D056653] synonym: "rheumatoid vasculitis" EXACT [] synonym: "Vasculitides, rheumatoid" RELATED [MESH:D056653] @@ -439104,7 +458844,6 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0043275 name: TORCH syndrome def: "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." [NCIT:C98609] -subset: gard_rare synonym: "TORCH infection" EXACT [NCIT:C98609] synonym: "TORCH syndrome" EXACT [NCIT:C98609] synonym: "torch syndrome" EXACT [] @@ -439124,7 +458863,6 @@ id: MONDO:0043277 name: mosaic trisomy 6 def: "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997)." [http://mosaicism.bcchr.ca/specific/trisomy6.htm] comment: Editor notes: TODO DPs for partial/complete/mosaic -subset: gard_rare synonym: "trisomy 6" RELATED [NCIT:C36475] synonym: "trisomy 6 mosaicism" RELATED [GARD:0007815] xref: NCIT:C36475 {source="MONDO:relatedTo"} @@ -439139,7 +458877,6 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0043280 name: Wallerian degeneration def: "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." [NCIT:C85223] -subset: gard_rare synonym: "Degeneration, Wallerian" RELATED [MESH:D014855] synonym: "Wallerian Degeneration" EXACT [NCIT:C85223] synonym: "Wallerian degeneration of the pyramidal tract" RELATED [GARD:0007875] @@ -439153,7 +458890,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0043283 name: silicosiderosis -subset: gard_rare synonym: "hematite miners' lung disease" RELATED [] synonym: "hematite pneumoconiosis" RELATED [GARD:0008372, MESH:C537337] synonym: "iron miners lung" RELATED [GARD:0008372, MESH:C537337] @@ -439171,7 +458907,6 @@ intersection_of: realized_in_response_to_stimulus CHEBI:50818 ! hematite id: MONDO:0043287 name: superior vena cava syndrome def: "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." [NCIT:C3396] -subset: gard_rare synonym: "superior vena cava obstruction" RELATED [GARD:0009264, MESH:D013479] synonym: "superior vena cava syndrome" EXACT [NCIT:C3396] synonym: "superior vena cava thrombosis" RELATED [MESH:D013479] @@ -439189,7 +458924,6 @@ is_a: MONDO:0005385 {source="MESH:D013479"} ! vascular disorder id: MONDO:0043291 name: Rokitansky-Aschoff sinuses of the gallbladder def: "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." [MESH:C535869] -subset: gard_rare synonym: "Aschoff-Rokitansky sinuses" EXACT [] synonym: "intramural diverticulosis of the gallbladder" RELATED [GARD:0009419, MESH:C535869] synonym: "Rokitansky-Aschoff sinuses" RELATED [GARD:0009419, MESH:C535869] @@ -439204,7 +458938,6 @@ relationship: excluded_subClassOf MONDO:0004647 {source="MESH:C535869"} ! in sit id: MONDO:0043294 name: linear scleroderma def: "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." [NCIT:C116780] -subset: gard_rare synonym: "en coup de saber" RELATED [GARD:0009513] synonym: "en coup de sabre" RELATED OMO:0003005 [] synonym: "linear morphea" RELATED [] @@ -439220,7 +458953,6 @@ is_a: MONDO:0019562 {source="NCIT:C116780"} ! localized scleroderma id: MONDO:0043297 name: vibrio vulnificus infectious disease def: "An disease or disorder caused by infection with Vibrio vulnificus." [MONDO:patterns/specific_infectious_disease_by_agent] -subset: gard_rare synonym: "Vibrio vulnificus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Vibrio vulnificus disease or disorder" EXACT [] synonym: "vibrio vulnificus infection" EXACT [] @@ -439236,7 +458968,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:672 ! Vibrio vulnificus [Term] id: MONDO:0043300 name: actinic cheilitis -subset: gard_rare synonym: "actinic cheilitis" EXACT [] synonym: "actinic cheilosis" RELATED [GARD:0009619, MESH:C535669] synonym: "solar keratosis of lip" RELATED [] @@ -439250,7 +458981,6 @@ is_a: MONDO:0002102 {source="MESH:C535669"} ! cheilitis id: MONDO:0043303 name: hyperacusis def: "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." [NCIT:C116366] -subset: gard_rare synonym: "auditory hyperesthesia" RELATED [MESH:D012001] synonym: "auditory Hyperesthesias" RELATED [MESH:D012001] synonym: "disturbance, loudness perception" RELATED [MESH:D012001] @@ -439285,7 +459015,6 @@ is_a: MONDO:0024422 {source="NCIT:C116366"} ! auditory perceptual disorders id: MONDO:0043310 name: amaurosis fugax def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757] -subset: gard_rare synonym: "amaurosis fugax" EXACT [NCIT:C84550] synonym: "amaurosis fugax (one sided temporary vision loss)" RELATED [] synonym: "blindness, monocular, transient" RELATED [MESH:D020757] @@ -439304,7 +459033,6 @@ relationship: disease_arises_from_feature MONDO:0001538 ! retinal ischemia id: MONDO:0043314 name: aquarium granuloma def: "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." [Wikipedia:Aquarium_granuloma] -subset: gard_rare synonym: "aquarium granuloma" EXACT [] synonym: "fish tank granuloma" EXACT [GARD:0009712, MESH:C535526] synonym: "M. marinum" RELATED [GARD:0009712] @@ -439323,7 +459051,6 @@ relationship: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0043317 name: amyopathic dermatomyositis def: "A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." [GARD:0009907] -subset: gard_rare synonym: "ADM" RELATED ABBREVIATION [GARD:0009907] synonym: "amyopathic dermatomyositis" EXACT [Orphanet:645617] synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907] @@ -439338,7 +459065,6 @@ is_a: MONDO:0016367 {source="MESH:C538250"} ! dermatomyositis id: MONDO:0043320 name: piriformis syndrome def: "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." [NCIT:C85012] -subset: gard_rare synonym: "deep gluteal syndrome" RELATED [GARD:0010026] synonym: "hip socket neuropathy" RELATED [GARD:0010026] synonym: "muscle syndrome, piriformis" RELATED [MESH:D055958] @@ -439369,7 +459095,6 @@ relationship: disease_has_feature MONDO:0021667 {source="MESH:D055958"} ! neural id: MONDO:0043327 name: cerebrospinal fluid leak def: "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." [MESH:D065634] -subset: gard_rare synonym: "cerebrospinal fluid drainage" RELATED [MESH:D065634] synonym: "cerebrospinal fluid drainage, post traumatic" RELATED [MESH:D065634] synonym: "cerebrospinal fluid drainage, post-traumatic" RELATED [MESH:D065634] @@ -439420,7 +459145,7 @@ relationship: disease_has_location UBERON:0001359 ! cerebrospinal fluid id: MONDO:0043330 name: Mirizzi syndrome def: "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever." [MESH:D057792] -subset: gard_rare +subset: gard_rare {source="GARD:10177"} subset: ordo_clinical_syndrome synonym: "hepatic duct dystonia syndrome" RELATED [] synonym: "Mirizzi syndrome" EXACT [] @@ -439430,6 +459155,7 @@ synonym: "Mirizzis syndrome" RELATED [MESH:D057792] synonym: "syndrome, Mirizzi" RELATED [MESH:D057792] synonym: "syndrome, Mirizzi's" RELATED [MESH:D057792] xref: EFO:1001860 {source="MONDO:equivalentTo"} +xref: GARD:10177 {source="Orphanet:521219"} xref: MESH:D057792 {source="MONDO:equivalentTo"} xref: Orphanet:521219 {source="MONDO:equivalentTo"} xref: SCTID:4283007 {source="MONDO:equivalentTo"} @@ -439441,7 +459167,6 @@ is_a: MONDO:0006757 ! extrahepatic cholestasis id: MONDO:0043339 name: lathyrism def: "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." [MESH:D007842] -subset: gard_rare synonym: "lathyrism" EXACT [] synonym: "Lathyrus species poisoning" EXACT [] synonym: "Neurolathyrism" RELATED [MESH:D007842] @@ -439456,7 +459181,6 @@ is_a: MONDO:0029000 {source="MESH:D007842/inferred"} ! poisoning id: MONDO:0043343 name: Chilaiditi syndrome def: "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [MESH:D059269] -subset: gard_rare synonym: "anomaly, Chilaiditi" RELATED [MESH:D059269] synonym: "anomaly, Chilaiditi's" RELATED [MESH:D059269] synonym: "Chilaiditi anomaly" RELATED [MESH:D059269] @@ -439479,7 +459203,6 @@ id: MONDO:0043346 name: progressive transformation of germinal centers def: "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." [GARD:0010712] comment: Editor note: represents a finding in NCIT -subset: gard_rare synonym: "progressive transformation of Germinal centers" EXACT [NCIT:C38408] synonym: "progressive transformation of Germinal centres" EXACT OMO:0003005 [] synonym: "PTGC" RELATED ABBREVIATION [GARD:0010712] @@ -439492,7 +459215,6 @@ is_a: MONDO:0005062 {source="MESH:C548085"} ! lymphoma id: MONDO:0043349 name: intravascular papillary endothelial hyperplasia def: "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." [NCIT:C4391] -subset: gard_rare synonym: "intravascular papillary endothelial hyperplasia" EXACT [NCIT:C4391] synonym: "Masson lesion" EXACT [NCIT:C4391] synonym: "Masson pseudotumor" EXACT [NCIT:C4391] @@ -439514,7 +459236,6 @@ is_a: MONDO:0024461 {source="NCIT:C4391"} ! angiomatosis id: MONDO:0043352 name: fournier gangrene def: "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." [MESH:D018934] -subset: gard_rare synonym: "Fournier disease" RELATED [MESH:D018934] synonym: "fournier gangrene" EXACT [] synonym: "Fournier's disease" RELATED [MESH:D018934] @@ -439534,7 +459255,6 @@ is_a: MONDO:0005113 {source="MESH:D018934"} ! bacterial infectious disease id: MONDO:0043355 name: collagenous gastritis def: "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." [NCIT:C122082] -subset: gard_rare synonym: "collagenous gastritis" EXACT [NCIT:C122082] xref: NCIT:C122082 {source="MONDO:equivalentTo"} xref: SCTID:711499009 {source="MONDO:equivalentTo"} @@ -439545,7 +459265,6 @@ is_a: MONDO:0004966 {source="NCIT:C122082"} ! gastritis id: MONDO:0043358 name: engraftment syndrome def: "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." [NCIT:C63324] -subset: gard_rare synonym: "engraftment syndrome" EXACT [NCIT:C63324] xref: NCIT:C63324 {source="MONDO:equivalentTo"} xref: SCTID:426768001 {source="MONDO:equivalentTo"} @@ -439557,7 +459276,6 @@ is_a: MONDO:0700222 {source="NCIT:C63324"} ! disease related to hematopoietic st id: MONDO:0043361 name: May-Thurner syndrome def: "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." [MESH:D062108] -subset: gard_rare synonym: "Cockett syndrome" RELATED [GARD:0012141, MESH:D062108] synonym: "compression syndrome, Iliocaval" RELATED [MESH:D062108] synonym: "compression syndromes, Iliocaval" RELATED [MESH:D062108] @@ -439580,7 +459298,6 @@ is_a: MONDO:0005294 {source="MESH:D062108"} ! peripheral vascular disease id: MONDO:0043364 name: eosinophil peroxidase deficiency def: "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." [OMIM:261500] -subset: gard_rare synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500, OMIM:genemap2] synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500] synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893] @@ -439601,7 +459318,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0043370 name: secondary adrenal insufficiency def: "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex." [NCIT:C62602] -subset: gard_rare synonym: "central adrenal insufficiency" EXACT [NCIT:C62602] synonym: "central Hypoadrenalism" EXACT [NCIT:C62602] synonym: "hypocortisolism secondary to another disorder" EXACT [] @@ -439618,12 +459334,13 @@ is_a: MONDO:0000004 {source="NCIT:C62602"} ! adrenocortical insufficiency id: MONDO:0043373 name: sudden sensorineural hearing loss def: "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." [MESH:D003639] -subset: gard_rare +subset: gard_rare {source="GARD:12927"} synonym: "acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma" RELATED [GARD:0012927] synonym: "deafness, sudden" RELATED [MESH:D003639] synonym: "sudden deafness" RELATED [GARD:0012927, MESH:D003639] synonym: "sudden hearing loss" BROAD [MESH:D003639] synonym: "sudden sensorineural hearing loss" EXACT [] +xref: GARD:12927 {source="Orphanet:90059"} xref: MESH:D003639 {source="MONDO:equivalentTo"} xref: Orphanet:90059 {source="MONDO:equivalentTo", source="GARD:0012927"} xref: SCTID:715239002 {source="MONDO:equivalentTo"} @@ -439637,7 +459354,6 @@ intersection_of: has_characteristic PATO:0000389 ! acute id: MONDO:0043377 name: juvenile spondyloarthropathy def: "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood." [NCIT:C114347] -subset: gard_rare synonym: "JSpA" EXACT [NCIT:C114347] synonym: "juvenile Spondyloarthritis" EXACT [NCIT:C114347] synonym: "juvenile spondyloarthropathy" EXACT [NCIT:C114347] @@ -439719,6 +459435,7 @@ id: MONDO:0043459 name: radiation-induced disorder def: "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." [NCIT:C26684] subset: disease_grouping +subset: gard_rare {source="GARD:22139"} subset: ordo_group_of_disorders synonym: "abnormalities, radiation induced" RELATED [MESH:D000016] synonym: "Abnormality, radiation-induced" RELATED [MESH:D000016] @@ -439726,6 +459443,7 @@ synonym: "radiation induced abnormalities" RELATED [MESH:D000016] synonym: "radiation-induced abnormalities" EXACT [NCIT:C26684] synonym: "radiation-induced Abnormality" EXACT [MESH:D000016, NCIT:C26684] synonym: "radiation-induced disorder" EXACT [NCIT:C26684] +xref: GARD:22139 {source="Orphanet:521132"} xref: MESH:D000016 {source="MONDO:equivalentTo"} xref: NCIT:C26684 {source="MONDO:equivalentTo"} xref: Orphanet:521132 {source="MONDO:equivalentTo"} @@ -440598,6 +460316,7 @@ is_a: MONDO:0007004 {source="MESH:D012713"} ! type III hypersensitivity disease id: MONDO:0043797 name: spinal cord injury def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." [MESH:D013119] +subset: gard_rare {source="GARD:19109"} synonym: "contusion, spinal cord" RELATED [MESH:D013119] synonym: "Contusions, spinal cord" RELATED [MESH:D013119] synonym: "cord contusion, spinal" RELATED [MESH:D013119] @@ -440638,6 +460357,7 @@ synonym: "Traumas, spinal cord" RELATED [MESH:D013119] synonym: "traumatic Myelopathies" RELATED [MESH:D013119] synonym: "traumatic myelopathy" RELATED [MESH:D013119] xref: EFO:1001919 {source="MONDO:equivalentTo"} +xref: GARD:19109 {source="Orphanet:90058"} xref: MESH:D013119 {source="MONDO:equivalentTo"} xref: Orphanet:90058 {source="MONDO:equivalentTo"} xref: SCTID:90584004 {source="MONDO:equivalentTo"} @@ -441363,9 +461083,11 @@ name: T-B+ severe combined immunodeficiency def: "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." [Orphanet:317416] comment: Editor note: add logical definition subset: disease_grouping +subset: gard_rare {source="GARD:21405"} subset: ordo_group_of_disorders synonym: "T-B+ SCID" EXACT [Orphanet:317416] synonym: "T-cell negative B-cell positive SCID" EXACT [] +xref: GARD:21405 {source="Orphanet:317416"} xref: ICD10CM:D81.2 {source="Orphanet:317416"} xref: Orphanet:317416 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:317416"} ! severe combined immunodeficiency @@ -441375,9 +461097,11 @@ disjoint_from: MONDO:0044201 ! T+ B+ severe combined immunodeficiency id: MONDO:0044201 name: T+ B+ severe combined immunodeficiency subset: disease_grouping +subset: gard_rare {source="GARD:21636"} subset: ordo_group_of_disorders synonym: "T+B+ SCID" EXACT [] synonym: "T-cell positive B-cell positive SCID" EXACT [] +xref: GARD:21636 {source="Orphanet:397802"} xref: ICD10CM:D81.2 {source="Orphanet:397802"} xref: Orphanet:397802 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:397802"} ! severe combined immunodeficiency @@ -441386,11 +461110,13 @@ is_a: MONDO:0015974 {source="Orphanet:397802"} ! severe combined immunodeficienc id: MONDO:0044202 name: episodic kinesigenic dyskinesia def: "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." [Orphanet:98809] +subset: gard_rare {source="GARD:8721"} subset: ordo_disease {source="Orphanet:98809"} synonym: "EKD" BROAD ABBREVIATION [OMIMPS:128200] synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809] synonym: "familial PKD" EXACT [Orphanet:98809] synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809] +xref: GARD:8721 {source="Orphanet:98809"} xref: OMIMPS:128200 {source="MONDO:equivalentTo"} xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200", source="MONDO:equivalentTo"} is_a: MONDO:0015427 {source="MONDO:cjm"} ! paroxysmal dyskinesia @@ -441408,12 +461134,14 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136520"} ! inheri [Term] id: MONDO:0044204 name: Shwachman-Diamond syndrome 1 +subset: gard_rare {source="GARD:15221"} synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400] synonym: "pancreatic insufficiency and bone marrow dysfunction" RELATED [OMIM:260400] synonym: "SDS1" RELATED ABBREVIATION [OMIM:260400] synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400] synonym: "Shwachman-Diamond syndrome" RELATED [OMIM:260400] synonym: "Shwachman-Diamond syndrome 1" EXACT [OMIM:260400] +xref: GARD:15221 {source="OMIM:260400"} xref: OMIM:260400 {source="MONDO:equivalentTo"} xref: Orphanet:811 {source="OMIM:260400"} xref: UMLS:C0272170 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:260400"} @@ -441425,8 +461153,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044205 name: Shwachman-Diamond syndrome 2 def: "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." [OMIM:617941] +subset: gard_rare {source="GARD:16272"} synonym: "SDS2" RELATED ABBREVIATION [OMIM:617941] synonym: "Shwachman-Diamond syndrome 2" EXACT [OMIM:617941] +xref: GARD:16272 {source="OMIM:617941"} xref: OMIM:617941 {source="MONDO:equivalentTo"} xref: UMLS:CN244554 {source="MONDO:equivalentTo"} is_a: MONDO:0009833 {source="OMIM:617941"} ! Shwachman-Diamond syndrome @@ -442457,10 +462187,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044304 name: hyperphenylalaninemia due to DNAJC12 deficiency def: "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." [OMIM:617384] +subset: gard_rare {source="GARD:17950"} subset: ordo_disease synonym: "HPANBH4" RELATED ABBREVIATION [OMIM:617384] synonym: "hyperphenylalaninemia due to DNAJC12 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "hyperphenylalaninemia, mild, non-BH4-deficient" RELATED [OMIM:617384] +xref: GARD:17950 {source="Orphanet:508523"} xref: OMIM:617384 {source="MONDO:equivalentTo", source="Orphanet:508523"} xref: Orphanet:508523 {source="MONDO:equivalentTo"} xref: UMLS:C4479270 {source="MONDO:equivalentTo", source="OMIM:617384"} @@ -442486,10 +462218,12 @@ is_a: MONDO:0019287 {source="OMIM:617392"} ! ectodermal dysplasia syndrome id: MONDO:0044306 name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination def: "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." [OMIM:617393] +subset: gard_rare {source="GARD:17930"} subset: ordo_disease synonym: "NECFM" RELATED ABBREVIATION [OMIM:617393] synonym: "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" EXACT [OMIM:617393] synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [Orphanet:500545] +xref: GARD:17930 {source="Orphanet:500545"} xref: OMIM:617393 {source="Orphanet:500545", source="MONDO:equivalentTo"} xref: Orphanet:500545 {source="MONDO:equivalentTo", source="OMIM:617393"} xref: UMLS:C4479333 {source="MONDO:equivalentTo", source="OMIM:617393"} @@ -442506,9 +462240,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044308 name: bardet-biedl syndrome 21 def: "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)." [OMIM:617406] +subset: gard_rare {source="GARD:16226"} synonym: "Bardet-Biedl syndrome 21" RELATED [OMIM:617406] synonym: "BBS21" RELATED ABBREVIATION [OMIM:617406] xref: DOID:0081010 {source="MONDO:equivalentTo"} +xref: GARD:16226 {source="OMIM:617406"} xref: OMIM:617406 {source="MONDO:equivalentTo"} xref: Orphanet:110 {source="OMIM:617406"} xref: UMLS:C4319932 {source="OMIM:617406", source="MONDO:equivalentTo"} @@ -442518,9 +462254,11 @@ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:6 [Term] id: MONDO:0044309 name: Diamond-Blackfan anemia 16 +subset: gard_rare {source="GARD:16227"} synonym: "DBA16" RELATED ABBREVIATION [OMIM:617408] synonym: "Diamond-Blackfan anemia 16" EXACT [OMIM:617408] xref: DOID:0111893 {source="MONDO:equivalentTo"} +xref: GARD:16227 {source="OMIM:617408"} xref: OMIM:617408 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617408"} xref: UMLS:C4479424 {source="MONDO:equivalentTo", source="OMIM:617408"} @@ -442529,9 +462267,11 @@ is_a: MONDO:0015253 {source="OMIM:617408"} ! Diamond-Blackfan anemia [Term] id: MONDO:0044310 name: Diamond-Blackfan anemia 17 +subset: gard_rare {source="GARD:16228"} synonym: "DBA17" RELATED ABBREVIATION [OMIM:617409] synonym: "Diamond-Blackfan anemia 17" EXACT [OMIM:617409] xref: DOID:0111880 {source="MONDO:equivalentTo"} +xref: GARD:16228 {source="OMIM:617409"} xref: OMIM:617409 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617409"} xref: UMLS:C4479428 {source="MONDO:equivalentTo", source="OMIM:617409"} @@ -442574,8 +462314,10 @@ is_a: MONDO:0019502 {source="OMIM:617432"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0044314 name: retinitis pigmentosa 78 +subset: gard_rare {source="GARD:16229"} synonym: "retinitis pigmentosa 78" EXACT [OMIM:617433] synonym: "RP78" RELATED ABBREVIATION [OMIM:617433] +xref: GARD:16229 {source="OMIM:617433"} xref: OMIM:617433 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:617433"} xref: UMLS:C4479481 {source="MONDO:equivalentTo", source="OMIM:617433"} @@ -442637,9 +462379,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044319 name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies def: "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." [OMIM:617452] +subset: gard_rare {source="GARD:17942"} subset: ordo_malformation_syndrome synonym: "IDDFSDA" RELATED ABBREVIATION [OMIM:617452] synonym: "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" EXACT [OMIM:617452] +xref: GARD:17942 {source="Orphanet:505237"} xref: OMIM:617452 {source="MONDO:equivalentTo", source="Orphanet:505237"} xref: Orphanet:505237 {source="MONDO:equivalentTo", source="OMIM:617452"} xref: UMLS:C4479520 {source="MONDO:equivalentTo", source="OMIM:617452"} @@ -442652,8 +462396,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044320 name: retinitis pigmentosa 79 +subset: gard_rare {source="GARD:16231"} synonym: "retinitis pigmentosa 79" EXACT [OMIM:617460] synonym: "RP79" RELATED ABBREVIATION [OMIM:617460] +xref: GARD:16231 {source="OMIM:617460"} xref: OMIM:617460 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:617460"} xref: UMLS:C4479526 {source="MONDO:equivalentTo", source="OMIM:617460"} @@ -442726,9 +462472,11 @@ is_a: MONDO:0019391 {source="OMIM:617784"} ! Fanconi anemia id: MONDO:0044326 name: developmental delay and seizures with or without movement abnormalities def: "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." [OMIM:617836] +subset: gard_rare {source="GARD:16261"} synonym: "DEDSM" RELATED ABBREVIATION [OMIM:617836] synonym: "developmental delay and seizures with or without movement abnormalities" EXACT [OMIM:617836] xref: DOID:0080473 {source="MONDO:equivalentTo"} +xref: GARD:16261 {source="OMIM:617836"} xref: OMIM:617836 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617836"} xref: UMLS:CN769090 {source="MONDO:equivalentTo"} @@ -442778,9 +462526,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044330 name: hyperekplexia 4 def: "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)." [OMIM:618011] +subset: gard_rare {source="GARD:16284"} synonym: "HKPX4" RELATED ABBREVIATION [OMIM:618011] synonym: "hyperekplexia 4" EXACT [OMIM:618011] xref: DOID:0080581 {source="MONDO:equivalentTo"} +xref: GARD:16284 {source="OMIM:618011"} xref: OMIM:618011 {source="MONDO:equivalentTo"} xref: UMLS:CN248518 {source="MONDO:equivalentTo"} is_a: MONDO:0021022 {source="OMIM:618011"} ! hereditary hyperekplexia @@ -442789,7 +462539,9 @@ is_a: MONDO:0021022 {source="OMIM:618011"} ! hereditary hyperekplexia id: MONDO:0044331 name: obsolete genetic transient congenital hypothyroidism def: "OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:20564"} synonym: "hereditary transient congenital hypothyroidism" EXACT [MONDO:patterns/hereditary] +xref: GARD:20564 {source="MONDO:obsoleteEquivalent", source="Orphanet:226316"} xref: ICD10CM:P72.2 {source="Orphanet:226316"} xref: Orphanet:226316 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} @@ -442801,7 +462553,9 @@ consider: MONDO:0018612 [Term] id: MONDO:0044332 name: childhood-onset benign chorea with striatal involvement +subset: gard_rare {source="GARD:17906"} subset: ordo_disease +xref: GARD:17906 {source="Orphanet:494541"} xref: Orphanet:494541 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 ! movement disorder is_a: MONDO:0015548 {source="Orphanet:494541"} ! Huntington disease-like syndrome @@ -443094,7 +462848,9 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0044350 name: hyperparathyroidism, primary, caused by water clear cell hyperplasia +subset: gard_rare {source="GARD:18254"} synonym: "hyperparathyroidism, primary, caused by water clear cell hyperplasia" EXACT [OMIM:600166] +xref: GARD:18254 {source="OMIM:600166"} xref: MESH:C563982 {source="MONDO:equivalentTo"} xref: OMIM:600166 {source="MONDO:equivalentTo"} xref: Orphanet:99878 {source="OMIM:600166"} @@ -443132,8 +462888,10 @@ replaced_by: MONDO:0006412 id: MONDO:0044355 name: isolated sternocostoclavicular hyperostosis def: "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." [Orphanet:178311] +subset: gard_rare {source="GARD:20144"} subset: ordo_disease synonym: "isolated SCCH" EXACT [Orphanet:178311] +xref: GARD:20144 {source="Orphanet:178311"} xref: ICD10CM:M85.8 {source="Orphanet:178311"} xref: Orphanet:178311 {source="MONDO:equivalentTo"} xref: SCTID:766711009 {source="MONDO:equivalentTo"} @@ -443144,8 +462902,10 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare [Term] id: MONDO:0044406 name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome +subset: gard_rare {source="GARD:5029"} subset: ordo_malformation_syndrome synonym: "Stoll-Alembik-Finck syndrome" EXACT [Orphanet:3200] +xref: GARD:5029 {source="Orphanet:3200"} xref: Orphanet:3200 {source="MONDO:equivalentTo"} xref: UMLS:C1866427 {source="Orphanet:3200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019287 {source="Orphanet:3200"} ! ectodermal dysplasia syndrome @@ -443154,7 +462914,9 @@ is_a: MONDO:0019942 {source="Orphanet:3200"} ! distal arthrogryposis [Term] id: MONDO:0044617 name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome +subset: gard_rare {source="GARD:21990"} subset: ordo_malformation_syndrome +xref: GARD:21990 {source="Orphanet:482606"} xref: Orphanet:482606 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder @@ -443167,6 +462929,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044618 name: obsolete CLCN4-related X-linked intellectual disability syndrome +xref: GARD:17880 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6328" xsd:anyURI is_obsolete: true @@ -443176,10 +462939,12 @@ replaced_by: MONDO:0010250 id: MONDO:0044619 name: propylthiouracil embryofetopathy def: "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." [Orphanet:485358] +subset: gard_rare {source="GARD:21991"} subset: ordo_malformation_syndrome synonym: "propylthiouracil embryopathy" EXACT [Orphanet:485358] synonym: "PTU embryofetopathy" EXACT [Orphanet:485358] synonym: "PTU embryopathy" EXACT [Orphanet:485358] +xref: GARD:21991 {source="Orphanet:485358"} xref: Orphanet:485358 {source="MONDO:equivalentTo"} is_a: MONDO:0016677 {source="Orphanet:485358"} ! toxic or drug-related embryofetopathy @@ -443187,10 +462952,12 @@ is_a: MONDO:0016677 {source="Orphanet:485358"} ! toxic or drug-related embryofet id: MONDO:0044621 name: 16p12.1p12.3 triplication syndrome def: "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." [Orphanet:485405] +subset: gard_rare {source="GARD:21993"} subset: ordo_malformation_syndrome synonym: "tetrasomy 16p12.1-p12.3" EXACT [Orphanet:485405] synonym: "tetrasomy 16p12.1p12.3" EXACT [Orphanet:485405] synonym: "trip(16)(p12.1p12.3)" EXACT [Orphanet:485405] +xref: GARD:21993 {source="Orphanet:485405"} xref: Orphanet:485405 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16 @@ -443202,7 +462969,9 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source=" [Term] id: MONDO:0044622 name: EMILIN-1-related connective tissue disease +subset: gard_rare {source="GARD:21994"} subset: ordo_disease +xref: GARD:21994 {source="Orphanet:485418"} xref: Orphanet:485418 {source="MONDO:equivalentTo"} is_a: MONDO:0003900 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy @@ -443210,8 +462979,10 @@ is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral n [Term] id: MONDO:0044624 name: pediatric collagenous gastritis +subset: gard_rare {source="GARD:21998"} subset: ordo_disease synonym: "childhood-onset collagenous gastritis" EXACT [Orphanet:487809] +xref: GARD:21998 {source="Orphanet:487809"} xref: Orphanet:487809 {source="MONDO:equivalentTo"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder is_a: MONDO:0004966 {source="https://orcid.org/0000-0002-3458-4839"} ! gastritis @@ -443221,8 +462992,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044625 name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation +subset: gard_rare {source="GARD:21999"} subset: ordo_disease synonym: "CMT2 due to DGAT2 mutation" EXACT [Orphanet:487814] +xref: GARD:21999 {source="Orphanet:487814"} xref: Orphanet:487814 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="Orphanet:487814"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 @@ -443231,7 +463004,9 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0044626 name: female infertility due to oocyte meiotic arrest +subset: gard_rare {source="GARD:17887"} subset: ordo_disease +xref: GARD:17887 {source="Orphanet:488191"} xref: Orphanet:488191 {source="MONDO:equivalentTo"} is_a: MONDO:0021124 {source="MONDO:Redundant", source="Orphanet:488191"} ! female infertility intersection_of: MONDO:0021124 ! female infertility @@ -443240,8 +463015,10 @@ intersection_of: disease_has_basis_in_disruption_of GO:0051321 ! meiotic cell cy [Term] id: MONDO:0044627 name: acute macular neuroretinopathy +subset: gard_rare {source="GARD:22000"} subset: ordo_disease synonym: "AMNR" EXACT ABBREVIATION [Orphanet:488239] +xref: GARD:22000 {source="Orphanet:488239"} xref: Orphanet:488239 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="Orphanet:488239"} ! retinal disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -443250,16 +463027,20 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0044628 name: six2-related frontonasal dysplasia +subset: gard_rare {source="GARD:22001"} subset: ordo_malformation_syndrome synonym: "SIX2-related FND" EXACT [Orphanet:488437] +xref: GARD:22001 {source="Orphanet:488437"} xref: Orphanet:488437 {source="MONDO:equivalentTo"} is_a: MONDO:0016643 {source="Orphanet:488437"} ! frontonasal dysplasia [Term] id: MONDO:0044629 name: congenital amyoplasia +subset: gard_rare {source="GARD:22002"} subset: ordo_malformation_syndrome synonym: "amyoplasia congenita" EXACT [Orphanet:488586] +xref: GARD:22002 {source="Orphanet:488586"} xref: Orphanet:488586 {source="MONDO:equivalentTo"} is_a: MONDO:0015225 {source="Orphanet:488586"} ! arthrogryposis syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -443282,9 +463063,11 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113", source=" [Term] id: MONDO:0044632 name: extracranial carotid artery aneurysm +subset: gard_rare {source="GARD:22003"} subset: ordo_morphological_anomaly synonym: "ECAA" EXACT ABBREVIATION [Orphanet:494424] synonym: "Ecca" EXACT [Orphanet:494424] +xref: GARD:22003 {source="Orphanet:494424"} xref: Orphanet:494424 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0005269 {source="https://orcid.org/0000-0002-3458-4839"} ! carotid artery disorder @@ -443294,19 +463077,23 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044633 name: idiopathic pleuroparenchymal fibroelastosis +subset: gard_rare {source="GARD:22004"} subset: ordo_disease synonym: "idiopathic pleuropulmonary fibroelastosis" EXACT [Orphanet:494428] synonym: "IPPFE" EXACT ABBREVIATION [Orphanet:494428] +xref: GARD:22004 {source="Orphanet:494428"} xref: Orphanet:494428 {source="MONDO:equivalentTo"} is_a: MONDO:0002429 {source="Orphanet:494428"} ! idiopathic interstitial pneumonia [Term] id: MONDO:0044634 name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17903"} subset: ordo_malformation_syndrome synonym: "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" EXACT [Orphanet:494439] synonym: "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" EXACT [OMIM:617763, OMIM:genemap2] xref: DOID:0081175 {source="MONDO:equivalentTo"} +xref: GARD:17903 {source="Orphanet:494439"} xref: OMIM:617763 {source="MONDO:equivalentTo", source="Orphanet:494439"} xref: Orphanet:494439 {source="MONDO:equivalentTo"} xref: UMLS:C4540367 {source="MONDO:equivalentTo"} @@ -443321,8 +463108,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044635 name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome +subset: gard_rare {source="GARD:17904"} subset: ordo_disease synonym: "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome" EXACT CLINGEN_PREFERRED [Orphanet:494444] +xref: GARD:17904 {source="Orphanet:494444"} xref: Orphanet:494444 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018795 {source="Orphanet:494444"} ! syndromic constitutional thrombocytopenia @@ -443331,7 +463120,9 @@ is_a: MONDO:0018795 {source="Orphanet:494444"} ! syndromic constitutional thromb id: MONDO:0044636 name: obsolete rare hyperkinetic movement disorder subset: disease_grouping +subset: gard_rare {source="GARD:22008"} subset: ordo_group_of_disorders +xref: GARD:22008 {source="MONDO:obsoleteEquivalent", source="Orphanet:494457"} xref: Orphanet:494457 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -443341,10 +463132,12 @@ is_obsolete: true [Term] id: MONDO:0044637 name: infantile-onset generalized dyskinesia with orofacial involvement +subset: gard_rare {source="GARD:17905"} subset: ordo_disease synonym: "dyskinesia, limb and orofacial, infantile-onset" EXACT [OMIM:616921] synonym: "infantile-onset orofacial-trunk-limbs dyskinesia" EXACT [Orphanet:494526] synonym: "IOLOD" EXACT ABBREVIATION [OMIM:616921] +xref: GARD:17905 {source="Orphanet:494526"} xref: OMIM:616921 {source="MONDO:equivalentTo", source="Orphanet:494526"} xref: Orphanet:494526 {source="MONDO:equivalentTo"} xref: UMLS:C5567464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -443358,6 +463151,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044638 name: hypopharynx squamous cell carcinoma def: "A squamous cell carcinoma that involves the hypopharynx." [MONDO:patterns/location] +subset: gard_rare {source="GARD:17907"} subset: ordo_disease synonym: "epidermoid carcinoma of hypopharynx" EXACT [NCIT:C4043] synonym: "epidermoid carcinoma of the hypopharynx" EXACT [NCIT:C4043] @@ -443367,6 +463161,7 @@ synonym: "hypopharyngeal throat squamous cell cancer" EXACT [NCIT:C4043] synonym: "squamous cell carcinoma of hypopharynx" EXACT [NCIT:C4043] synonym: "squamous cell carcinoma of the hypopharynx" RELATED [Orphanet:494547] xref: EFO:1001960 {source="MONDO:equivalentTo"} +xref: GARD:17907 {source="Orphanet:494547"} xref: NCIT:C4043 {source="MONDO:equivalentTo"} xref: ONCOTREE:HPHSC {source="MONDO:equivalentTo"} xref: Orphanet:494547 {source="MONDO:equivalentTo"} @@ -443379,10 +463174,12 @@ intersection_of: disease_has_location UBERON:0001051 ! hypopharynx [Term] id: MONDO:0044640 name: Charcot-Marie-Tooth disease type 2T +subset: gard_rare {source="GARD:17909"} subset: ordo_disease synonym: "AR-CMT2T" EXACT [Orphanet:495274] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [Orphanet:495274] synonym: "CMT2T" EXACT ABBREVIATION [Orphanet:495274] +xref: GARD:17909 {source="Orphanet:495274"} xref: Orphanet:495274 {source="MONDO:equivalentTo"} xref: UMLS:CN237675 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2 @@ -443390,12 +463187,14 @@ is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-M [Term] id: MONDO:0044641 name: 9q33.3q34.11 microdeletion syndrome +subset: gard_rare {source="GARD:22009"} subset: ordo_malformation_syndrome synonym: "9q33.3-q34.11 microdeletion syndrome" EXACT [Orphanet:495818] synonym: "Del(9)(q33.3q34.11)" EXACT [Orphanet:495818] synonym: "deletion 9q33.3q34.11" EXACT [Orphanet:495818] synonym: "monosomy 9q33.3-q34.11" EXACT [Orphanet:495818] synonym: "monosomy 9q33.3q34.11" EXACT [Orphanet:495818] +xref: GARD:22009 {source="Orphanet:495818"} xref: Orphanet:495818 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:495818"} ! syndromic intellectual disability is_a: MONDO:0005328 ! eye disorder @@ -443411,17 +463210,21 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044642 name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy +subset: gard_rare {source="GARD:17910"} subset: ordo_disease synonym: "C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:495844] synonym: "hypomyelinating leukodystrophy due to hikeshi deficiency" EXACT [Orphanet:495844] +xref: GARD:17910 {source="Orphanet:495844"} xref: Orphanet:495844 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy [Term] id: MONDO:0044643 name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome +subset: gard_rare {source="GARD:22010"} subset: ordo_malformation_syndrome synonym: "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" EXACT [Orphanet:495875] +xref: GARD:22010 {source="Orphanet:495875"} xref: Orphanet:495875 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:495875"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -443437,10 +463240,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044644 name: congenital agenesis of the scrotum +subset: gard_rare {source="GARD:22011"} subset: ordo_morphological_anomaly synonym: "congenital absence of the scrotum" EXACT [Orphanet:495879] synonym: "congenital scrotal absence" EXACT [Orphanet:495879] synonym: "congenital scrotal agenesis" EXACT [Orphanet:495879] +xref: GARD:22011 {source="Orphanet:495879"} xref: Orphanet:495879 {source="MONDO:equivalentTo"} is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder @@ -443454,9 +463259,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044645 name: familial monosomy 7 syndrome def: "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor." [Orphanet:495930] +subset: gard_rare {source="GARD:3765"} subset: ordo_disease synonym: "monosomy 7 myelodysplasia and leukaemia syndrome" EXACT OMO:0003005 [] synonym: "monosomy 7 myelodysplasia and leukemia syndrome" EXACT [MONDO:0031178] +xref: GARD:3765 {source="Orphanet:495930"} xref: OMIMPS:252270 {source="MONDO:equivalentTo"} xref: Orphanet:495930 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIMPS:252270"} ! hereditary disease @@ -443467,11 +463274,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044646 name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +subset: gard_rare {source="GARD:17911"} subset: ordo_malformation_syndrome synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" EXACT [MONDO:0014964, OMIM:617193] synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" EXACT [] synonym: "PEBAT" EXACT ABBREVIATION [OMIM:617193] xref: DOID:0070423 {source="MONDO:equivalentTo"} +xref: GARD:17911 {source="Orphanet:496641"} xref: OMIM:617193 {source="Orphanet:496641", source="MONDO:equivalentTo"} xref: Orphanet:496641 {source="MONDO:equivalentTo"} xref: UMLS:C4310671 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -443490,15 +463299,19 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044647 name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome +subset: gard_rare {source="GARD:17912"} subset: ordo_disease +xref: GARD:17912 {source="Orphanet:496686"} xref: Orphanet:496686 {source="MONDO:equivalentTo"} is_a: MONDO:0018943 {source="Orphanet:496686"} ! myofibrillar myopathy [Term] id: MONDO:0044648 name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome +subset: gard_rare {source="GARD:22012"} subset: ordo_disease synonym: "kyphoscoliosis-lateral tongue atrophy-HSP syndrome" EXACT [Orphanet:496689] +xref: GARD:22012 {source="Orphanet:496689"} xref: Orphanet:496689 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -443511,8 +463324,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044649 name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome +subset: gard_rare {source="GARD:10354"} subset: ordo_malformation_syndrome synonym: "Gershoni-Baruch syndrome" EXACT [Orphanet:496693] +xref: GARD:10354 {source="Orphanet:496693"} xref: Orphanet:496693 {source="MONDO:equivalentTo"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015160 {source="Orphanet:496693"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -443522,7 +463337,9 @@ is_a: MONDO:0019054 ! congenital limb malformation [Term] id: MONDO:0044651 name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome +subset: gard_rare {source="GARD:17914"} subset: ordo_disease +xref: GARD:17914 {source="Orphanet:496756"} xref: Orphanet:496756 {source="MONDO:equivalentTo"} is_a: MONDO:0015363 {source="Orphanet:496756"} ! neuronopathy, distal hereditary motor, autosomal recessive is_a: MONDO:0018307 {source="Orphanet:496756"} ! neurodegeneration with brain iron accumulation @@ -443542,7 +463359,9 @@ replaced_by: MONDO:0014958 [Term] id: MONDO:0044655 name: obsolete c12orf65-related combined oxidative phosphorylation defect +subset: gard_rare {source="GARD:22015"} synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623] +xref: GARD:22015 {source="MONDO:obsoleteEquivalent", source="Orphanet:497623"} xref: Orphanet:497623 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623"} ! syndromic intellectual disability property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -443556,10 +463375,12 @@ is_obsolete: true [Term] id: MONDO:0044656 name: epidermolytic nevus +subset: gard_rare {source="GARD:22016"} subset: ordo_disease synonym: "Epidermal nevus with epidermolytic hyperkeratosis" EXACT [Orphanet:497737] synonym: "epidermolytic epidermal nevus" EXACT [Orphanet:497737] synonym: "epidermolytic verrucous epidermal nevus" EXACT [Orphanet:497737] +xref: GARD:22016 {source="Orphanet:497737"} xref: Orphanet:497737 {source="MONDO:equivalentTo"} xref: SCTID:400142003 {source="MONDO:equivalentTo"} xref: UMLS:C1302848 {source="MONDO:equivalentTo"} @@ -443568,21 +463389,25 @@ is_a: MONDO:0017266 {source="Orphanet:497737"} ! keratinopathic ichthyosis [Term] id: MONDO:0044657 name: MME-related autosomal dominant Charcot Marie Tooth disease type 2 +subset: gard_rare {source="GARD:17916"} subset: ordo_disease synonym: "MME-related autosomal dominant CMT2" EXACT [Orphanet:497757] synonym: "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2" EXACT [Orphanet:497757] +xref: GARD:17916 {source="Orphanet:497757"} xref: Orphanet:497757 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="Orphanet:497757"} ! Charcot-Marie-Tooth disease type 2 [Term] id: MONDO:0044660 name: menstrual cycle-dependent periodic fever +subset: gard_rare {source="GARD:22017"} subset: ordo_disease synonym: "luteal-phase-dependent febrile episode" EXACT [Orphanet:498251] synonym: "luteal-phase-dependent periodic fever" EXACT [Orphanet:498251] synonym: "menstrual cycle-dependent febrile episode" EXACT [Orphanet:498251] synonym: "periodic fever, menstrual cycle dependent" EXACT [OMIM:614674, OMIM:genemap2] synonym: "periodic fever, menstrual cycle-dependent" EXACT [MONDO:0013850, OMIM:614674] +xref: GARD:22017 {source="Orphanet:498251"} xref: OMIM:614674 {source="MONDO:equivalentTo"} xref: Orphanet:498251 {source="MONDO:equivalentTo"} xref: UMLS:C3553418 {source="OMIM:614674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -443598,7 +463423,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044663 name: aquagenic palmoplantar keratoderma def: "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis." [GARD:0012991] -subset: gard_rare +subset: gard_rare {source="GARD:12991"} subset: ordo_disease synonym: "aquagenic keratoderma" EXACT [Orphanet:498359] synonym: "aquagenic palmoplantar keratoderma" EXACT [GARD:0012991] @@ -443607,6 +463432,7 @@ synonym: "aquagenic wrinkling of the hands" RELATED [GARD:0012991] synonym: "aquagenic wrinkling of the palms" EXACT [GARD:0012991, Orphanet:498359] synonym: "Transient reactive papulotranslucent acrokeratoderma" RELATED [GARD:0012991] synonym: "transient reactive papulotranslucent acrokeratoderma" EXACT [Orphanet:498359] +xref: GARD:12991 {source="Orphanet:498359"} xref: Orphanet:498359 {source="MONDO:equivalentTo"} is_a: MONDO:0006590 ! palmoplantar keratosis is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease @@ -443616,7 +463442,9 @@ intersection_of: realized_in_response_to ECTO:9000156 ! exposure to water [Term] id: MONDO:0044675 name: LRP5-related primary osteoporosis +subset: gard_rare {source="GARD:22031"} subset: ordo_malformation_syndrome +xref: GARD:22031 {source="Orphanet:498481"} xref: Orphanet:498481 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:498481"} ! skeletal dysplasia relationship: disease_has_feature HP:0004349 {source="Orphanet:498481"} ! Reduced bone mineral density @@ -443634,8 +463462,10 @@ replaced_by: MONDO:0013569 [Term] id: MONDO:0044682 name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome +subset: gard_rare {source="GARD:22035"} subset: ordo_disease synonym: "MYBPC1-related autosomal recessive non-lethal AMC syndrome" EXACT [Orphanet:498693] +xref: GARD:22035 {source="Orphanet:498693"} xref: Orphanet:498693 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:498693"} ! arthrogryposis multiplex congenita relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:cjm"} ! MYBPC1 @@ -443661,7 +463491,9 @@ replaced_by: MONDO:0006042 id: MONDO:0044685 name: autoimmune/inflammatory optic neuropathy subset: disease_grouping +subset: gard_rare {source="GARD:22037"} subset: ordo_group_of_disorders +xref: GARD:22037 {source="Orphanet:499047"} xref: Orphanet:499047 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -443669,9 +463501,11 @@ is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder id: MONDO:0044687 name: chronic relapsing inflammatory optic neuropathy def: "A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves." [Orphanet:499085] +subset: gard_rare {source="GARD:22038"} subset: ordo_disease synonym: "chronic recurrent isolated optic neuritis" EXACT [Orphanet:499085] synonym: "CRION" EXACT ABBREVIATION [Orphanet:499085] +xref: GARD:22038 {source="Orphanet:499085"} xref: Orphanet:499085 {source="MONDO:equivalentTo"} is_a: MONDO:0044685 {source="Orphanet:499085"} ! autoimmune/inflammatory optic neuropathy relationship: has_characteristic PATO:0001863 ! chronic @@ -443680,8 +463514,10 @@ relationship: has_characteristic PATO:0001863 ! chronic id: MONDO:0044688 name: isolated optic neuritis def: "A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis." [Orphanet:499096] +subset: gard_rare {source="GARD:22039"} subset: ordo_disease synonym: "ion" EXACT [Orphanet:499096] +xref: GARD:22039 {source="Orphanet:499096"} xref: Orphanet:499096 {source="MONDO:equivalentTo"} is_a: MONDO:0044685 {source="Orphanet:499096"} ! autoimmune/inflammatory optic neuropathy relationship: has_characteristic MONDO:0021128 ! has an isolated presentation @@ -443690,8 +463526,10 @@ relationship: has_characteristic MONDO:0021128 ! has an isolated presentation id: MONDO:0044689 name: recurrent idiopathic neuroretinitis def: "A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe." [Orphanet:499103] +subset: gard_rare {source="GARD:22040"} subset: ordo_disease synonym: "RINR" EXACT ABBREVIATION [Orphanet:499103] +xref: GARD:22040 {source="Orphanet:499103"} xref: Orphanet:499103 {source="MONDO:equivalentTo"} is_a: MONDO:0044685 {source="Orphanet:499103"} ! autoimmune/inflammatory optic neuropathy relationship: has_characteristic MONDO:0700005 ! idiopathic @@ -443700,8 +463538,10 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0044690 name: optic perineuritis def: "A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral." [Orphanet:499107] +subset: gard_rare {source="GARD:22041"} subset: ordo_disease synonym: "OPN" EXACT ABBREVIATION [Orphanet:499107] +xref: GARD:22041 {source="Orphanet:499107"} xref: Orphanet:499107 {source="MONDO:equivalentTo"} xref: SCTID:713417000 {source="MONDO:equivalentTo"} xref: UMLS:C4076165 {source="MONDO:equivalentTo"} @@ -443710,9 +463550,11 @@ is_a: MONDO:0044685 {source="Orphanet:499107"} ! autoimmune/inflammatory optic n [Term] id: MONDO:0044696 name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +subset: gard_rare {source="GARD:17923"} subset: ordo_malformation_syndrome synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [OMIM:617669] synonym: "PEBAS" RELATED ABBREVIATION [OMIM:617669] +xref: GARD:17923 {source="Orphanet:500144"} xref: OMIM:617669 {source="MONDO:equivalentTo", source="Orphanet:500144"} xref: Orphanet:500144 {source="OMIM:617669", source="MONDO:equivalentTo"} xref: UMLS:C4540059 {source="OMIM:617669", source="MONDO:notFoundInDiseaseSubset"} @@ -443727,7 +463569,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044699 name: SIN3A-related intellectual disability syndrome +subset: gard_rare {source="GARD:22043"} subset: ordo_malformation_syndrome +xref: GARD:22043 {source="Orphanet:500163"} xref: Orphanet:500163 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:500163"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability intersection_of: MONDO:0000508 ! syndromic intellectual disability @@ -443739,7 +463583,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044700 name: SIN3A-related intellectual disability syndrome due to a point mutation +subset: gard_rare {source="GARD:17925"} subset: ordo_etiological_subtype +xref: GARD:17925 {source="Orphanet:500166"} xref: Orphanet:500166 {source="MONDO:equivalentTo"} is_a: MONDO:0044699 {source="Orphanet:500166"} ! SIN3A-related intellectual disability syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -443747,10 +463593,12 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0044701 name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder +subset: gard_rare {source="GARD:13658"} subset: ordo_disease synonym: "CONDBA" RELATED ABBREVIATION [OMIM:617672] synonym: "neurodegeneration, childhood-onset, with brain atrophy" RELATED [OMIM:617672] synonym: "UBTF-related disorder" EXACT [https://orcid.org/0000-0001-5208-3432] +xref: GARD:13658 {source="Orphanet:500180"} xref: OMIM:617672 {source="MONDO:equivalentTo", source="Orphanet:500180"} xref: Orphanet:500180 {source="MONDO:equivalentTo", source="OMIM:617672"} xref: UMLS:C4540086 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617672"} @@ -443767,11 +463615,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044702 name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome +subset: gard_rare {source="GARD:17926"} subset: ordo_malformation_syndrome synonym: "deafness, X-linked 7" EXACT [OMIM:301018] synonym: "deafness, X-linked 7, X-linked recessive" NARROW [OMIM:301018, OMIM:genemap2] synonym: "DFNX7" EXACT ABBREVIATION [OMIM:301018] xref: DOID:0111738 {source="MONDO:equivalentTo"} +xref: GARD:17926 {source="Orphanet:500188"} xref: OMIM:301018 {source="MONDO:equivalentTo"} xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"} xref: UMLS:C4746975 {source="OMIM:301018"} @@ -443785,6 +463635,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044704 name: oropharynx squamous cell carcinoma def: "A squamous cell carcinoma that involves the oropharynx." [MONDO:patterns/location] +subset: gard_rare {source="GARD:17928"} subset: ordo_disease synonym: "epidermoid carcinoma of oropharynx" EXACT [NCIT:C8181] synonym: "epidermoid carcinoma of the oropharynx" EXACT [NCIT:C8181] @@ -443793,6 +463644,7 @@ synonym: "oropharyngeal squamous cell carcinoma" EXACT [NCIT:C8181] synonym: "oropharyngeal throat squamous cell cancer" EXACT [NCIT:C8181] synonym: "squamous cell carcinoma of oropharynx" EXACT [NCIT:C8181] synonym: "squamous cell carcinoma of the oropharynx" RELATED [Orphanet:500478] +xref: GARD:17928 {source="Orphanet:500478"} xref: NCIT:C8181 {source="MONDO:equivalentTo"} xref: ONCOTREE:OPHSC {source="MONDO:equivalentTo"} xref: Orphanet:500478 {source="MONDO:equivalentTo"} @@ -443806,6 +463658,7 @@ intersection_of: disease_has_location UBERON:0001729 ! oropharynx id: MONDO:0044705 name: paranasal sinus squamous cell carcinoma def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C8193] +subset: gard_rare {source="GARD:17927"} subset: ordo_disease synonym: "epidermoid carcinoma of paranasal sinus" EXACT [NCIT:C8193] synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C8193] @@ -443815,6 +463668,7 @@ synonym: "squamous cell carcinoma of paranasal sinus" EXACT [NCIT:C8193] synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [Orphanet:500464] synonym: "squamous cell carcinoma of the nasal cavity and sinuses" EXACT [Orphanet:500464] synonym: "squamous cell carcinoma of the paranasal sinus" EXACT [NCIT:C8193] +xref: GARD:17927 {source="Orphanet:500464"} xref: NCIT:C8193 {source="MONDO:equivalentTo"} xref: Orphanet:500464 {source="MONDO:equivalentTo"} xref: UMLS:C0280334 {source="MONDO:equivalentTo"} @@ -443827,7 +463681,9 @@ intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus [Term] id: MONDO:0044709 name: cochleovestibular dysplasia +subset: gard_rare {source="GARD:22044"} subset: ordo_morphological_anomaly +xref: GARD:22044 {source="Orphanet:502305"} xref: Orphanet:502305 {source="MONDO:equivalentTo"} is_a: MONDO:0015604 {source="Orphanet:502305"} ! middle ear anomaly @@ -443836,11 +463692,13 @@ id: MONDO:0044710 name: lip and oral cavity squamous cell carcinoma def: "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." [NCIT:C42690] subset: disease_grouping +subset: gard_rare {source="GARD:22046"} subset: ordo_group_of_disorders synonym: "lip and oral cavity squamous cell cancer" EXACT [NCIT:C42690] synonym: "lip and oral cavity squamous cell carcinoma" EXACT [NCIT:C42690] synonym: "lip/oral cavity squam. cell car." EXACT [NCIT:C42690] synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [Orphanet:502369] +xref: GARD:22046 {source="Orphanet:502369"} xref: NCIT:C42690 {source="MONDO:equivalentTo"} xref: Orphanet:502369 {source="MONDO:equivalentTo"} xref: UMLS:C0280297 {source="MONDO:equivalentTo"} @@ -443854,10 +463712,12 @@ intersection_of: MONDO:0023644 {source="NCIT:C42690"} ! lip and oral cavity carc [Term] id: MONDO:0044714 name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +subset: gard_rare {source="GARD:17934"} subset: ordo_disease synonym: "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" EXACT [Orphanet:502423] synonym: "MMYAT" RELATED ABBREVIATION [OMIM:617675] synonym: "myopathy, mitochondrial, and ataxia" RELATED [OMIM:617675] +xref: GARD:17934 {source="Orphanet:502423"} xref: OMIM:617675 {source="Orphanet:502423", source="MONDO:equivalentTo"} xref: Orphanet:502423 {source="MONDO:equivalentTo", source="OMIM:617675"} xref: UMLS:C4540096 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617675"} @@ -443868,7 +463728,9 @@ relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:502423"} ! her [Term] id: MONDO:0044715 name: metopic ridging-ptosis-facial dysmorphism syndrome +subset: gard_rare {source="GARD:22047"} subset: ordo_malformation_syndrome +xref: GARD:22047 {source="Orphanet:502430"} xref: Orphanet:502430 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:502430"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -443886,9 +463748,11 @@ replaced_by: MONDO:0030912 [Term] id: MONDO:0044717 name: 4q25 proximal deletion syndrome +subset: gard_rare {source="GARD:22048"} subset: ordo_malformation_syndrome synonym: "proximal del(4)(q25)" EXACT [Orphanet:502437] synonym: "proximal monosomy 4q25" EXACT [Orphanet:502437] +xref: GARD:22048 {source="Orphanet:502437"} xref: Orphanet:502437 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:502437"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016903 {source="Orphanet:502437"} ! partial deletion of the long arm of chromosome 4 @@ -443899,11 +463763,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044718 name: alkaline ceramidase 3 deficiency +subset: gard_rare {source="GARD:17936"} subset: ordo_disease synonym: "ACER3-related early childhood-onset progressive leukodystrophy" EXACT [Orphanet:502444] synonym: "leukodystrophy due to alkaline ceramidase 3 deficiency" EXACT [Orphanet:502444] synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [OMIM:617762] synonym: "PLDECO" RELATED ABBREVIATION [OMIM:617762] +xref: GARD:17936 {source="Orphanet:502444"} xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"} xref: Orphanet:502444 {source="MONDO:equivalentTo", source="OMIM:617762"} xref: UMLS:C4540358 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617762"} @@ -443914,9 +463780,11 @@ is_a: MONDO:0019046 {source="Orphanet:502444"} ! leukodystrophy id: MONDO:0044719 name: erythema multiforme major def: "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." [NCIT:C3385] +subset: gard_rare {source="GARD:22049"} subset: ordo_disease synonym: "erythema exsudativum multiforme majus" EXACT [Orphanet:502499] synonym: "erythema multiforme majus" EXACT [Orphanet:502499] +xref: GARD:22049 {source="Orphanet:502499"} xref: NCIT:C3385 {source="MONDO:equivalentTo"} xref: Orphanet:502499 {source="MONDO:equivalentTo"} is_a: MONDO:0017396 {source="Orphanet:502499"} ! toxic dermatosis @@ -443924,11 +463792,13 @@ is_a: MONDO:0017396 {source="Orphanet:502499"} ! toxic dermatosis [Term] id: MONDO:0044720 name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +subset: gard_rare {source="GARD:17937"} subset: ordo_disease synonym: "CABV syndrome" EXACT [Orphanet:504476] synonym: "CANVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614575, Orphanet:504476] synonym: "cerebellar ataxia with bilateral vestibulopathy syndrome" EXACT [Orphanet:504476] synonym: "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" EXACT [MONDO:Lexical, OMIM:614575] +xref: GARD:17937 {source="Orphanet:504476"} xref: OMIM:614575 {source="MONDO:equivalentTo"} xref: Orphanet:504476 {source="MONDO:equivalentTo"} xref: UMLS:C3281223 {source="OMIM:614575", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -443941,11 +463811,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044721 name: severe combined immunodeficiency due to LAT deficiency +subset: gard_rare {source="GARD:17938"} subset: ordo_disease synonym: "IMD52" RELATED ABBREVIATION [OMIM:617514] synonym: "immunodeficiency 52" RELATED [OMIM:617514] synonym: "SCID due to LAT deficiency" EXACT [Orphanet:504523] xref: DOID:0111983 {source="MONDO:equivalentTo"} +xref: GARD:17938 {source="Orphanet:504523"} xref: OMIM:617514 {source="MONDO:equivalentTo", source="Orphanet:504523"} xref: Orphanet:504523 {source="OMIM:617514", source="MONDO:equivalentTo"} xref: UMLS:C4479588 {source="OMIM:617514", source="MONDO:equivalentTo"} @@ -443954,6 +463826,7 @@ is_a: MONDO:0044200 {source="Orphanet:504523", source="PMID:31953710"} ! T-B+ se [Term] id: MONDO:0044723 name: 3-methylglutaconic aciduria type 8 +subset: gard_rare {source="GARD:22050"} subset: ordo_disease synonym: "3-methylglutaconic aciduria type VIII" RELATED [DOID:0070000] synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [DOID:0070000] @@ -443963,6 +463836,7 @@ synonym: "3-methylglutaconic aciduria, type VIII; MGCA8" EXACT [] synonym: "MGA8" EXACT ABBREVIATION [Orphanet:505208] synonym: "MGCA8" EXACT ABBREVIATION [OMIM:617248] xref: DOID:0070000 {source="MONDO:equivalentTo"} +xref: GARD:22050 {source="Orphanet:505208"} xref: OMIM:617248 {source="MONDO:equivalentTo"} xref: Orphanet:505208 {source="MONDO:equivalentTo"} xref: UMLS:C4310650 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -443972,6 +463846,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0044724 name: 3-methylglutaconic aciduria type 9 +subset: gard_rare {source="GARD:17940"} subset: ordo_disease synonym: "3-Methylglutaconic aciduria, type 9" RELATED [OMIM:617698] synonym: "3-METHYLGLUTACONIC aciduria, type IX" RELATED [OMIM:617698] @@ -443981,6 +463856,7 @@ synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [DOID:0070002] synonym: "MGA9" EXACT ABBREVIATION [Orphanet:505216] synonym: "MGCA9" RELATED ABBREVIATION [OMIM:617698] xref: DOID:0070002 {source="MONDO:equivalentTo"} +xref: GARD:17940 {source="Orphanet:505216"} xref: OMIM:617698 {source="MONDO:equivalentTo", source="Orphanet:505216"} xref: Orphanet:505216 {source="OMIM:617698", source="MONDO:equivalentTo"} xref: UMLS:C4540171 {source="OMIM:617698", source="MONDO:notFoundInDiseaseSubset"} @@ -443992,6 +463868,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source=" [Term] id: MONDO:0044725 name: combined immunodeficiency due to GINS1 deficiency +subset: gard_rare {source="GARD:17941"} subset: ordo_disease synonym: "CID due to GINS1 deficiency" EXACT [Orphanet:505227] synonym: "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" EXACT [Orphanet:505227] @@ -443999,6 +463876,7 @@ synonym: "combined immunodeficiency with intrauterine growth retardation-NK cell synonym: "IMD55" RELATED ABBREVIATION [OMIM:617827] synonym: "immunodeficiency 55" RELATED [OMIM:617827] xref: DOID:0111993 {source="MONDO:equivalentTo"} +xref: GARD:17941 {source="Orphanet:505227"} xref: OMIM:617827 {source="MONDO:equivalentTo", source="Orphanet:505227"} xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"} xref: UMLS:CN737162 {source="MONDO:equivalentTo"} @@ -444008,10 +463886,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044726 name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +subset: gard_rare {source="GARD:17943"} subset: ordo_disease synonym: "BILAPES" RELATED ABBREVIATION [OMIM:617595] synonym: "Birk-Landau-Perez syndrome" RELATED [OMIM:617595] synonym: "Cerebrorenal syndrome, Perez type" EXACT [Orphanet:505242] +xref: GARD:17943 {source="Orphanet:505242"} xref: OMIM:617595 {source="MONDO:equivalentTo", source="Orphanet:505242"} xref: Orphanet:505242 {source="MONDO:equivalentTo", source="OMIM:617595"} xref: UMLS:C4539828 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617595"} @@ -444027,6 +463907,7 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare id: MONDO:0044727 name: pancreatic carcinoma with mixed differentiation def: "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." [NCIT:C45843] +subset: gard_rare {source="GARD:22057"} subset: ordo_disease synonym: "MiNEN of pancreas" EXACT [Orphanet:506112] synonym: "mixed exocrine-endocrine carcinoma of the pancreas" EXACT [NCIT:C45843] @@ -444034,6 +463915,7 @@ synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [ synonym: "pancreatic carcinoma with mixed differentiation" EXACT [NCIT:C45843] synonym: "pancreatic MiNEN" EXACT [Orphanet:506112] synonym: "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm" EXACT [Orphanet:506112] +xref: GARD:22057 {source="Orphanet:506112"} xref: NCIT:C45843 {source="MONDO:equivalentTo"} xref: Orphanet:506112 {source="MONDO:equivalentTo"} xref: UMLS:C1709050 {source="MONDO:equivalentTo"} @@ -444045,9 +463927,11 @@ intersection_of: MONDO:0006182 {source="NCIT:C45843"} ! digestive system mixed a [Term] id: MONDO:0044737 name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction +subset: gard_rare {source="GARD:17946"} subset: ordo_disease synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [Orphanet:506353] xref: DOID:0112349 {source="MONDO:equivalentTo"} +xref: GARD:17946 {source="Orphanet:506353"} xref: Orphanet:506353 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia @@ -444060,11 +463944,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044738 name: Gabriele de Vries syndrome +subset: gard_rare {source="GARD:17947"} subset: ordo_malformation_syndrome synonym: "Gabriele-De Vries syndrome" RELATED [OMIM:617557] synonym: "Gabriele-de Vries syndrome" RELATED [OMIM:617557] synonym: "GADEVS" RELATED ABBREVIATION [OMIM:617557] synonym: "YY1 haploinsufficiency syndrome" EXACT [Orphanet:506358] +xref: GARD:17947 {source="Orphanet:506358"} xref: OMIM:617557 {source="MONDO:equivalentTo", source="Orphanet:506358"} xref: Orphanet:506358 {source="OMIM:617557", source="MONDO:equivalentTo"} xref: UMLS:C4479652 {source="OMIM:617557", source="MONDO:equivalentTo"} @@ -444076,10 +463962,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044739 name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome +subset: gard_rare {source="GARD:22066"} subset: ordo_clinical_subtype synonym: "SJS/TEN overlap syndrome" EXACT [Orphanet:506784] synonym: "Stevens-Johnson/TEN overlap syndrome" EXACT [Orphanet:506784] synonym: "Stevens-Johnson/toxic epidermal necrolysis overlap syndrome" EXACT [Orphanet:506784] +xref: GARD:22066 {source="Orphanet:506784"} xref: ICD10CM:L51.8 {source="Orphanet:506784"} xref: Orphanet:506784 {source="MONDO:equivalentTo"} is_a: MONDO:0019810 {source="Orphanet:506784"} ! toxic epidermal necrolysis @@ -444088,6 +463976,7 @@ is_a: MONDO:0019810 {source="Orphanet:506784"} ! toxic epidermal necrolysis id: MONDO:0044740 name: salivary gland squamous cell carcinoma def: "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." [NCIT:C7991] +subset: gard_rare {source="GARD:17929"} subset: ordo_histopathological_subtype synonym: "epidermoid carcinoma of salivary gland" EXACT [NCIT:C7991] synonym: "epidermoid carcinoma of the salivary gland" EXACT [NCIT:C7991] @@ -444102,6 +463991,7 @@ synonym: "squamous cell carcinoma of salivary gland" EXACT [NCIT:C7991] synonym: "squamous cell carcinoma of salivary glands" RELATED [Orphanet:500481] synonym: "squamous cell carcinoma of the salivary gland" EXACT [NCIT:C7991] xref: EFO:1001967 {source="MONDO:equivalentTo"} +xref: GARD:17929 {source="Orphanet:500481"} xref: NCIT:C7991 {source="MONDO:equivalentTo"} xref: Orphanet:500481 {source="MONDO:equivalentTo"} xref: UMLS:C0279697 {source="MONDO:equivalentTo"} @@ -444114,8 +464004,10 @@ intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland [Term] id: MONDO:0044742 name: autosomal recessive epidermolytic ichthyosis +subset: gard_rare {source="GARD:22074"} subset: ordo_disease synonym: "AREI" EXACT ABBREVIATION [Orphanet:512103] +xref: GARD:22074 {source="Orphanet:512103"} xref: Orphanet:512103 {source="MONDO:equivalentTo"} is_a: MONDO:0007239 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolytic ichthyosis is_a: MONDO:0017266 {source="Orphanet:512103"} ! keratinopathic ichthyosis @@ -444219,7 +464111,6 @@ relationship: MONDO:0700097 MONDO:0025303 {source="https://orcid.org/0000-0002-4 id: MONDO:0044749 name: X-linked congenital stationary night blindness def: "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." [GARD:0003995] -subset: gard_rare synonym: "congenital stationary night blindness, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked CSNB" EXACT [GARD:0003995] synonym: "XLCSNB" EXACT ABBREVIATION [GARD:0003995-def] @@ -444363,7 +464254,6 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0044768 name: vagus nerve paraganglioma def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." [NCIT:C8427] -subset: gard_rare synonym: "paraganglioma of the vagal body" EXACT [NCIT:C8427] synonym: "paraganglioma of the vagus nerve" EXACT [NCIT:C8427] synonym: "paraganglioma of vagal body" EXACT [NCIT:C8427] @@ -444410,12 +464300,14 @@ is_a: MONDO:0019852 {source="OMIM:618014"} ! inherited primary ovarian failure id: MONDO:0044778 name: nodular lymphocyte predominant Hodgkin lymphoma def: "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" [NCIT:C7258] +subset: gard_rare {source="GARD:19079"} synonym: "Hodgkin lymphoma nodular LP, NOS" EXACT [NCIT:C7258] synonym: "Hodgkin lymphoma nodular lymphocyte predominant type, NOS" EXACT [NCIT:C7258] synonym: "NLPHL" EXACT ABBREVIATION [NCIT:C7258, Orphanet:86893] synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [NCIT:C7258] synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7258] synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258] +xref: GARD:19079 {source="Orphanet:86893"} xref: ICD10CM:C81.0 {source="Orphanet:86893", source="Orphanet:86893/ntbt"} xref: MEDGEN:233758 {source="UMLS:C1334968"} xref: MESH:D006689 {source="UMLS:C1334968"} @@ -444559,6 +464451,7 @@ replaced_by: MONDO:0044792 id: MONDO:0044791 name: combined hepatocellular carcinoma and cholangiocarcinoma def: "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." [NCIT:C3828] +subset: gard_rare {source="GARD:22200"} subset: ordo_disease synonym: "carcinoma of liver and intrahepatic biliary tract" BROAD [NCIT:C3828] synonym: "carcinoma of the liver and intrahepatic biliary tract" EXACT [NCIT:C3828] @@ -444569,6 +464462,7 @@ synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [NCIT: synonym: "Hepatocholangiocarcinoma" EXACT [NCIT:C3828] synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [NCIT:C3828] synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828] +xref: GARD:22200 {source="Orphanet:529852"} xref: NCIT:C3828 {source="MONDO:equivalentTo"} xref: Orphanet:529852 {source="MONDO:equivalentTo"} xref: SCTID:274902006 {source="MONDO:equivalentTo"} @@ -444580,7 +464474,7 @@ is_a: MONDO:0018918 {source="Orphanet:529852"} ! carcinoma of gallbladder and ex id: MONDO:0044792 name: large congenital melanocytic nevus def: "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626] -subset: gard_rare +subset: gard_rare {source="GARD:2469"} subset: ordo_disease synonym: "bathing trunk nevus" EXACT [GARD:0002469, NCIT:C4234] synonym: "CMNS" RELATED ABBREVIATION [OMIM:137550] @@ -444618,6 +464512,7 @@ synonym: "pigmented moles" RELATED [OMIM:137550] synonym: "spitz nevus" RELATED [OMIM:137550] synonym: "spitz nevus or nevus spilus, somatic" EXACT [OMIM:137550, OMIM:genemap2] xref: DOID:0111359 {source="MONDO:equivalentTo"} +xref: GARD:2469 {source="Orphanet:626"} xref: ICD10CM:Q82.5 {source="Orphanet:626", source="Orphanet:626/attributed", source="Orphanet:626/ntbt"} xref: ICDO:8761/1 {source="NCIT:C4234"} xref: MedDRA:10072036 {source="Orphanet:626", source="Orphanet:626/e"} @@ -444647,7 +464542,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2469/giant-c id: MONDO:0044793 name: spitz nevus def: "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." [NCIT:C27007] -subset: gard_rare synonym: "benign juvenile melanoma" EXACT [NCIT:C27007] synonym: "juvenile nevus" EXACT [NCIT:C27007] synonym: "spindle and/ or epithelioid cell Nevus" EXACT [NCIT:C27007] @@ -444725,11 +464619,13 @@ id: MONDO:0044807 name: inherited dystonia def: "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: disease_grouping +subset: gard_rare {source="GARD:21630"} subset: ordo_group_of_disorders {source="Orphanet:391799"} synonym: "familial dystonia" EXACT [NCIT:C35527] synonym: "hereditary dystonic disorder" EXACT [MONDO:patterns/hereditary] synonym: "rare genetic dystonia" EXACT [MONDO:0018331] synonym: "rare genetic dystonic disorder" EXACT [Orphanet:391799] +xref: GARD:21630 {source="Orphanet:391799"} xref: NCIT:C35527 {source="MONDO:equivalentTo"} xref: OMIMPS:128100 {source="MONDO:equivalentTo"} xref: Orphanet:391799 {source="MONDO:equivalentTo"} @@ -444893,7 +464789,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044877 name: paraneoplastic cerebellar degeneration def: "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." [NCIT:C4685] +subset: gard_rare {source="GARD:22493"} synonym: "paraneoplastic cerebellar degeneration" EXACT [NCIT:C4685] +xref: GARD:22493 {source="Orphanet:623626"} xref: MESH:D020362 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C4685 {source="MONDO:equivalentTo"} xref: Orphanet:623626 {source="MONDO:equivalentTo"} @@ -446437,11 +466335,13 @@ is_a: MONDO:0001384 {source="OMIM:301010"} ! myopia [Term] id: MONDO:0049222 name: intellectual disability, X-linked 107 +subset: gard_rare {source="GARD:22698"} synonym: "intellectual developmental disorder, X-linked 107" EXACT [OMIM:301013, OMIM:genemap2] synonym: "intellectual disability, X-linked 107" EXACT [OMIM:301013] synonym: "mental retardation, X-linked 107" RELATED DEPRECATED [OMIM:301013] synonym: "MRX107" RELATED DEPRECATED [OMIM:301013] xref: DOID:0112054 {source="MONDO:equivalentTo"} +xref: GARD:22698 {source="OMIM:301013"} xref: OMIM:301013 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:301013"} is_a: MONDO:0019181 {source="OMIM:301013"} ! non-syndromic X-linked intellectual disability @@ -446509,12 +466409,14 @@ is_a: MONDO:0012126 {source="OMIM:617383"} ! familial avascular necrosis of femo [Term] id: MONDO:0054559 name: congenital disorder of glycosylation, type IIq +subset: gard_rare {source="GARD:17720"} subset: ordo_disease {source="Orphanet:435934"} synonym: "CDG Iiq" RELATED ABBREVIATION [OMIM:617395] synonym: "CDG2Q" RELATED ABBREVIATION [OMIM:617395] synonym: "COG2-CDG" EXACT ABBREVIATION [MONDO:0018568] synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934] xref: DOID:0070269 {source="MONDO:equivalentTo"} +xref: GARD:17720 {source="Orphanet:435934"} xref: ICD10CM:E77.8 {source="Orphanet:435934", source="Orphanet:435934/attributed", source="Orphanet:435934/ntbt"} xref: OMIM:617395 {source="MONDO:equivalentTo", source="Orphanet:435934"} xref: Orphanet:435934 {source="MONDO:equivalentTo", source="OMIM:617395"} @@ -446575,8 +466477,10 @@ is_a: MONDO:0002254 ! syndromic disease [Term] id: MONDO:0054577 name: bleeding disorder, platelet-type, 21 +subset: gard_rare {source="GARD:16230"} synonym: "BDPLT21" RELATED ABBREVIATION [OMIM:617443] synonym: "bleeding disorder, platelet-type, 21" EXACT [OMIM:617443] +xref: GARD:16230 {source="OMIM:617443"} xref: OMIM:617443 {source="MONDO:equivalentTo"} xref: Orphanet:851 {source="OMIM:617443"} xref: UMLS:C4479515 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617443"} @@ -446642,10 +466546,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054593 name: microcephaly 18, primary, autosomal dominant +subset: gard_rare {source="GARD:16233"} synonym: "MCPH18" RELATED ABBREVIATION [OMIM:617520] synonym: "microcephaly 18, primary, autosomal dominant" EXACT [OMIM:617520] synonym: "primary autosomal dominant microcephaly 18" RELATED [DOID:0070295] xref: DOID:0070295 {source="MONDO:equivalentTo"} +xref: GARD:16233 {source="OMIM:617520"} xref: OMIM:617520 {source="MONDO:equivalentTo"} xref: UMLS:C4479608 {source="MONDO:equivalentTo", source="OMIM:617520"} is_a: MONDO:0007988 {source="OMIM:617520", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly @@ -446666,8 +466572,10 @@ is_a: MONDO:0017824 {source="OMIM:617540"} ! familial isolated pituitary adenoma [Term] id: MONDO:0054602 name: gaze palsy, familial horizontal, with progressive scoliosis, 2 +subset: gard_rare {source="GARD:16234"} synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 2" EXACT [OMIM:617542] synonym: "HGPPS2" RELATED ABBREVIATION [OMIM:617542] +xref: GARD:16234 {source="OMIM:617542"} xref: OMIM:617542 {source="MONDO:equivalentTo"} xref: UMLS:C4479640 {source="MONDO:equivalentTo", source="OMIM:617542"} is_a: MONDO:0011810 {source="OMIM:617542"} ! horizontal gaze palsy with progressive scoliosis @@ -446675,9 +466583,11 @@ is_a: MONDO:0011810 {source="OMIM:617542"} ! horizontal gaze palsy with progress [Term] id: MONDO:0054615 name: spermatogenic failure 18 +subset: gard_rare {source="GARD:18402"} synonym: "spermatogenic failure 18" EXACT [OMIM:617576] synonym: "SPGF18" RELATED ABBREVIATION [OMIM:617576] xref: DOID:0070165 {source="MONDO:equivalentTo"} +xref: GARD:18402 {source="OMIM:617576"} xref: OMIM:617576 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617576"} xref: UMLS:C4539783 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617576"} @@ -446686,10 +466596,12 @@ is_a: MONDO:0004983 {source="OMIM:617576"} ! spermatogenic failure [Term] id: MONDO:0054636 name: Skraban-Deardorff syndrome +subset: gard_rare {source="GARD:17953"} subset: ordo_disease synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [OMIM:617616] synonym: "SKDEAS" RELATED ABBREVIATION [OMIM:617616] synonym: "Skraban-Deardorff syndrome" EXACT [OMIM:617616] +xref: GARD:17953 {source="Orphanet:513456"} xref: OMIM:617616 {source="Orphanet:513456", source="MONDO:equivalentTo"} xref: Orphanet:513456 {source="MONDO:equivalentTo"} xref: UMLS:C4539927 {source="MONDO:equivalentTo", source="OMIM:617616"} @@ -446749,11 +466661,13 @@ is_a: MONDO:0009299 {source="OMIM:617690"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0054669 name: pontocerebellar hypoplasia, type 11 +subset: gard_rare {source="GARD:18029"} subset: ordo_disorder synonym: "PCH11" EXACT ABBREVIATION [OMIM:617695, Orphanet:611247] synonym: "Pontocerebellar hypoplasia due to TBC1D23" EXACT [Orphanet:611247] synonym: "pontocerebellar hypoplasia, type 11" EXACT [OMIM:617695] xref: DOID:0112324 {source="MONDO:equivalentTo"} +xref: GARD:18029 {source="Orphanet:611247"} xref: OMIM:617695 {source="MONDO:equivalentTo"} xref: Orphanet:611247 {source="MONDO:equivalentTo"} xref: UMLS:C4540164 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617695"} @@ -446799,11 +466713,13 @@ is_a: MONDO:0015517 {source="OMIM:617765"} ! common variable immunodeficiency [Term] id: MONDO:0054695 name: myopathy, centronuclear, 6, with fiber-type disproportion +subset: gard_rare {source="GARD:16250"} synonym: "centronuclear myopathy 6 with fiber-type disproportion" EXACT [OMIM:617760, OMIM:genemap2] synonym: "CNM6" RELATED ABBREVIATION [OMIM:617760] synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion" RELATED [OMIM:617760] synonym: "myopathy, centronuclear, 6, with fiber-type disproportion" EXACT CLINGEN_PREFERRED [] xref: DOID:0111221 {source="MONDO:equivalentTo"} +xref: GARD:16250 {source="OMIM:617760"} xref: OMIM:617760 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="OMIM:617760"} xref: UMLS:C4540345 {source="MONDO:equivalentTo", source="OMIM:617760"} @@ -446835,6 +466751,7 @@ is_a: MONDO:0021094 {source="OMIM:617638"} ! immunodeficiency disease [Term] id: MONDO:0054698 name: proteasome-associated autoinflammatory syndrome 1 +subset: gard_rare {source="GARD:3916"} synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [OMIM:256040] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [OMIM:256040] synonym: "JMP syndrome" RELATED [OMIM:256040] @@ -446844,6 +466761,7 @@ synonym: "PRAAS1" EXACT ABBREVIATION [OMIM:256040] synonym: "proteasome-associated autoinflammatory syndrome 1" EXACT [OMIM:256040] synonym: "proteasome-associated autoinflammatory syndrome 1 and digenic forms" EXACT [OMIM:256040, OMIM:genemap2] synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" RELATED [OMIM:256040] +xref: GARD:3916 {source="OMIM:256040"} xref: NCIT:C176619 {source="MONDO:equivalentTo"} xref: OMIM:256040 {source="MONDO:equivalentTo"} xref: Orphanet:2615 {source="OMIM:256040"} @@ -446858,10 +466776,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054699 name: proteasome-associated autoinflammatory syndrome 3 +subset: gard_rare {source="GARD:18446"} synonym: "PRAAS3" RELATED ABBREVIATION [OMIM:617591] synonym: "proteasome-associated autoinflammatory syndrome 3" EXACT [OMIM:617591] synonym: "proteasome-associated autoinflammatory syndrome 3 and digenic forms" EXACT [OMIM:617591, OMIM:genemap2] synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [OMIM:617591] +xref: GARD:18446 {source="OMIM:617591"} xref: OMIM:617591 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -446869,8 +466789,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054700 name: proteasome-associated autoinflammatory syndrome 2 +subset: gard_rare {source="GARD:18447"} synonym: "PRAAS2" RELATED ABBREVIATION [OMIM:618048] synonym: "proteasome-associated autoinflammatory syndrome 2" EXACT [OMIM:618048] +xref: GARD:18447 {source="OMIM:618048"} xref: OMIM:618048 {source="MONDO:equivalentTo"} xref: UMLS:CN252342 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome @@ -446878,9 +466800,11 @@ is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammat [Term] id: MONDO:0054701 name: Kleefstra syndrome 2 +subset: gard_rare {source="GARD:18382"} synonym: "Kleefstra syndrome 2" EXACT [OMIM:617768] synonym: "KLEFS2" RELATED ABBREVIATION [OMIM:617768] xref: DOID:0080598 {source="MONDO:equivalentTo"} +xref: GARD:18382 {source="OMIM:617768"} xref: OMIM:617768 {source="MONDO:equivalentTo"} xref: Orphanet:261652 {source="OMIM:617768"} xref: UMLS:C4540395 {source="OMIM:617768", source="MONDO:notFoundInDiseaseSubset"} @@ -446889,8 +466813,10 @@ is_a: MONDO:0012455 {source="OMIM:617768"} ! Kleefstra syndrome [Term] id: MONDO:0054708 name: retinitis pigmentosa 80 +subset: gard_rare {source="GARD:16252"} synonym: "RETINITIS pigmentosa 80" RELATED [OMIM:617781] synonym: "RP80" RELATED ABBREVIATION [OMIM:617781] +xref: GARD:16252 {source="OMIM:617781"} xref: OMIM:617781 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:617781"} xref: UMLS:C4540439 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617781"} @@ -446900,10 +466826,12 @@ is_a: MONDO:0100509 {source="https://clinicalgenome.org/affiliation/40072/"} ! I [Term] id: MONDO:0054716 name: microcephaly 19, primary, autosomal recessive +subset: gard_rare {source="GARD:16253"} synonym: "MCPH19" RELATED ABBREVIATION [OMIM:617800] synonym: "microcephaly 19, PRIMARY, autosomal recessive" RELATED [OMIM:617800] synonym: "primary autosomal recessive microcephaly 19" RELATED [DOID:0070281] xref: DOID:0070281 {source="MONDO:equivalentTo"} +xref: GARD:16253 {source="OMIM:617800"} xref: OMIM:617800 {source="MONDO:equivalentTo"} xref: UMLS:C4540488 {source="OMIM:617800", source="MONDO:equivalentTo"} is_a: MONDO:0016660 {source="OMIM:617800"} ! autosomal recessive primary microcephaly @@ -446911,9 +466839,11 @@ is_a: MONDO:0016660 {source="OMIM:617800"} ! autosomal recessive primary microce [Term] id: MONDO:0054722 name: geleophysic dysplasia 3 +subset: gard_rare {source="GARD:16255"} synonym: "GELEOPHYSIC dysplasia 3" RELATED [OMIM:617809] synonym: "GPHYSD3" RELATED ABBREVIATION [OMIM:617809] xref: DOID:0111727 {source="MONDO:equivalentTo"} +xref: GARD:16255 {source="OMIM:617809"} xref: OMIM:617809 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:617809"} xref: UMLS:C4540511 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617809"} @@ -446924,9 +466854,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054723 name: spermatogenic failure 19 +subset: gard_rare {source="GARD:18403"} synonym: "spermatogenic failure 19" EXACT [OMIM:617592] synonym: "SPGF19" RELATED ABBREVIATION [OMIM:617592] xref: DOID:0070170 {source="MONDO:equivalentTo"} +xref: GARD:18403 {source="OMIM:617592"} xref: OMIM:617592 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617592"} xref: UMLS:C4539818 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617592"} @@ -446935,9 +466867,11 @@ is_a: MONDO:0004983 {source="OMIM:617592"} ! spermatogenic failure [Term] id: MONDO:0054724 name: spermatogenic failure 20 +subset: gard_rare {source="GARD:18404"} synonym: "spermatogenic failure 20" EXACT [OMIM:617593] synonym: "SPGF20" RELATED ABBREVIATION [OMIM:617593] xref: DOID:0070166 {source="MONDO:equivalentTo"} +xref: GARD:18404 {source="OMIM:617593"} xref: OMIM:617593 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617593"} xref: UMLS:C4539824 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617593"} @@ -446956,9 +466890,11 @@ is_a: MONDO:0004983 {source="OMIM:617644"} ! spermatogenic failure [Term] id: MONDO:0054726 name: spermatogenic failure 22 +subset: gard_rare {source="GARD:16245"} synonym: "spermatogenic failure 22" EXACT [OMIM:617706] synonym: "SPGF22" RELATED ABBREVIATION [OMIM:617706] xref: DOID:0070177 {source="MONDO:equivalentTo"} +xref: GARD:16245 {source="OMIM:617706"} xref: OMIM:617706 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:617706"} xref: UMLS:C4540179 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617706"} @@ -446967,9 +466903,11 @@ is_a: MONDO:0004983 {source="OMIM:617706"} ! spermatogenic failure [Term] id: MONDO:0054727 name: spermatogenic failure 23 +subset: gard_rare {source="GARD:16246"} synonym: "spermatogenic failure 23" EXACT [OMIM:617707] synonym: "SPGF23" RELATED ABBREVIATION [OMIM:617707] xref: DOID:0070181 {source="MONDO:equivalentTo"} +xref: GARD:16246 {source="OMIM:617707"} xref: OMIM:617707 {source="MONDO:equivalentTo"} xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="OMIM:617707"} is_a: MONDO:0004983 {source="OMIM:617707"} ! spermatogenic failure @@ -446987,9 +466925,11 @@ is_a: MONDO:0004983 {source="OMIM:617959"} ! spermatogenic failure [Term] id: MONDO:0054729 name: spermatogenic failure 25 +subset: gard_rare {source="GARD:16274"} synonym: "spermatogenic failure 25" EXACT [OMIM:617960] synonym: "SPGF25" RELATED ABBREVIATION [OMIM:617960] xref: DOID:0111920 {source="MONDO:equivalentTo"} +xref: GARD:16274 {source="OMIM:617960"} xref: OMIM:617960 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:617960"} is_a: MONDO:0004983 {source="OMIM:617960"} ! spermatogenic failure @@ -447007,9 +466947,11 @@ is_a: MONDO:0004983 {source="OMIM:617961"} ! spermatogenic failure [Term] id: MONDO:0054731 name: spermatogenic failure 27 +subset: gard_rare {source="GARD:18405"} synonym: "spermatogenic failure 27" EXACT [OMIM:617965] synonym: "SPGF27" RELATED ABBREVIATION [OMIM:617965] xref: DOID:0111928 {source="MONDO:equivalentTo"} +xref: GARD:18405 {source="OMIM:617965"} xref: OMIM:617965 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617965"} is_a: MONDO:0004983 {source="OMIM:617965"} ! spermatogenic failure @@ -447017,9 +466959,11 @@ is_a: MONDO:0004983 {source="OMIM:617965"} ! spermatogenic failure [Term] id: MONDO:0054732 name: spermatogenic failure 28 +subset: gard_rare {source="GARD:16290"} synonym: "spermatogenic failure 28" EXACT [OMIM:618086] synonym: "SPGF28" RELATED ABBREVIATION [OMIM:618086] xref: DOID:0111916 {source="MONDO:equivalentTo"} +xref: GARD:16290 {source="OMIM:618086"} xref: OMIM:618086 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:618086"} ! spermatogenic failure @@ -447035,9 +466979,11 @@ is_a: MONDO:0004983 {source="OMIM:618091"} ! spermatogenic failure [Term] id: MONDO:0054736 name: mosaic variegated aneuploidy syndrome 3 +subset: gard_rare {source="GARD:16240"} synonym: "MOSAIC variegated aneuploidy syndrome 3" RELATED [OMIM:617598] synonym: "MVA3" RELATED ABBREVIATION [OMIM:617598] xref: DOID:0080689 {source="MONDO:equivalentTo"} +xref: GARD:16240 {source="OMIM:617598"} xref: OMIM:617598 {source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="OMIM:617598"} xref: UMLS:C4539839 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617598"} @@ -447137,9 +467083,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0054748 name: Fanconi anemia, complementation group S +subset: gard_rare {source="GARD:16264"} synonym: "Fanconi anemia, complementation GROUP S" RELATED [OMIM:617883] synonym: "Fanconi anemia, complementation group S" EXACT CLINGEN_PREFERRED [] synonym: "FANCS" RELATED ABBREVIATION [OMIM:617883] +xref: GARD:16264 {source="OMIM:617883"} xref: OMIM:617883 {source="MONDO:equivalentTo"} xref: Orphanet:84 {source="OMIM:617883"} is_a: MONDO:0019391 {source="OMIM:617883"} ! Fanconi anemia @@ -447158,9 +467106,11 @@ is_obsolete: true [Term] id: MONDO:0054750 name: amyotrophic lateral sclerosis, susceptibility to, 24 +subset: gard_rare {source="GARD:16265"} subset: predisposition synonym: "ALS24" RELATED ABBREVIATION [OMIM:617892] synonym: "amyotrophic lateral sclerosis, susceptibility to, 24" EXACT [OMIM:617892] +xref: GARD:16265 {source="OMIM:617892"} xref: OMIM:617892 {source="MONDO:equivalentTo"} xref: UMLS:CN842244 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:617892", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility @@ -447182,10 +467132,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054754 name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +subset: gard_rare {source="GARD:16267"} subset: predisposition synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8" RELATED [OMIM:617900] synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [OMIM:617900] synonym: "IIAE8" RELATED ABBREVIATION [OMIM:617900] +xref: GARD:16267 {source="OMIM:617900"} xref: OMIM:617900 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:617900"} xref: UMLS:CN865669 {source="MONDO:equivalentTo"} @@ -447197,8 +467149,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054761 name: microcephaly 20, primary, autosomal recessive +subset: gard_rare {source="GARD:16268"} synonym: "MCPH20" RELATED ABBREVIATION [OMIM:617914] synonym: "microcephaly 20, PRIMARY, autosomal recessive" RELATED [OMIM:617914] +xref: GARD:16268 {source="OMIM:617914"} xref: OMIM:617914 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:617914"} is_a: MONDO:0016660 {source="OMIM:617914"} ! autosomal recessive primary microcephaly @@ -447263,11 +467217,13 @@ is_a: MONDO:0020310 {source="OMIM:617935"} ! familial focal epilepsy with variab [Term] id: MONDO:0054780 name: elliptocytosis 3 +subset: gard_rare {source="GARD:16273"} synonym: "anemia, neonatal hemolytic, fatal or near-fatal" EXACT [OMIM:617948, OMIM:genemap2] synonym: "anemia, perinatal hemolytic, fatal or near-fatal" RELATED [OMIM:617948] synonym: "EL3" RELATED ABBREVIATION [OMIM:617948] synonym: "elliptocytosis 3" EXACT [OMIM:617948] synonym: "elliptocytosis-3" EXACT [OMIM:617948, OMIM:genemap2] +xref: GARD:16273 {source="OMIM:617948"} xref: MESH:C566678 {source="MONDO:equivalentTo"} xref: OMIM:617948 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="OMIM:617948"} @@ -447297,12 +467253,14 @@ is_a: MONDO:0019046 {source="OMIM:617951"} ! leukodystrophy [Term] id: MONDO:0054785 name: multiple mitochondrial dysfunctions syndrome 6 +subset: gard_rare {source="GARD:18004"} subset: ordo_disorder synonym: "MMDS6" EXACT ABBREVIATION [OMIM:617954] synonym: "multiple mitochondrial dysfunctions syndrome 6" EXACT [OMIM:617954] synonym: "multiple mitochondrial dysfunctions syndrome type 6" EXACT [Orphanet:569290] synonym: "PMPCB deficiency" EXACT [Orphanet:569290] xref: DOID:0070332 {source="MONDO:equivalentTo"} +xref: GARD:18004 {source="Orphanet:569290"} xref: ICD10CM:E88.8 {source="Orphanet:569290", source="MONDO:mondoSubClassOfSource"} xref: OMIM:617954 {source="Orphanet:569290", source="MONDO:equivalentTo"} xref: Orphanet:569290 {source="MONDO:equivalentTo"} @@ -447362,8 +467320,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054804 name: microcephaly 21, primary, autosomal recessive +subset: gard_rare {source="GARD:16278"} synonym: "MCPH21" RELATED ABBREVIATION [OMIM:617983] synonym: "microcephaly 21, PRIMARY, autosomal recessive" RELATED [OMIM:617983] +xref: GARD:16278 {source="OMIM:617983"} xref: OMIM:617983 {source="MONDO:equivalentTo"} xref: UMLS:CN244930 {source="MONDO:equivalentTo"} is_a: MONDO:0016660 {source="OMIM:617983"} ! autosomal recessive primary microcephaly @@ -447371,8 +467331,10 @@ is_a: MONDO:0016660 {source="OMIM:617983"} ! autosomal recessive primary microce [Term] id: MONDO:0054805 name: microcephaly 22, primary, autosomal recessive +subset: gard_rare {source="GARD:16279"} synonym: "MCPH22" RELATED ABBREVIATION [OMIM:617984] synonym: "microcephaly 22, PRIMARY, autosomal recessive" RELATED [OMIM:617984] +xref: GARD:16279 {source="OMIM:617984"} xref: OMIM:617984 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:617984"} is_a: MONDO:0016660 {source="OMIM:617984"} ! autosomal recessive primary microcephaly @@ -447380,8 +467342,10 @@ is_a: MONDO:0016660 {source="OMIM:617984"} ! autosomal recessive primary microce [Term] id: MONDO:0054806 name: microcephaly 23, primary, autosomal recessive +subset: gard_rare {source="GARD:16280"} synonym: "MCPH23" RELATED ABBREVIATION [OMIM:617985] synonym: "microcephaly 23, PRIMARY, autosomal recessive" RELATED [OMIM:617985] +xref: GARD:16280 {source="OMIM:617985"} xref: OMIM:617985 {source="MONDO:equivalentTo"} xref: UMLS:CN244932 {source="MONDO:equivalentTo"} is_a: MONDO:0016660 {source="OMIM:617985"} ! autosomal recessive primary microcephaly @@ -447389,10 +467353,12 @@ is_a: MONDO:0016660 {source="OMIM:617985"} ! autosomal recessive primary microce [Term] id: MONDO:0054813 name: Ehlers-Danlos syndrome, classic-like, 2 +subset: gard_rare {source="GARD:17975"} subset: ordo_disease synonym: "EDSCLL2" EXACT ABBREVIATION [OMIM:618000] synonym: "Ehlers-Danlos syndrome, classic-like, 2" EXACT [OMIM:618000] xref: DOID:0080732 {source="MONDO:equivalentTo"} +xref: GARD:17975 {source="Orphanet:536532"} xref: OMIM:618000 {source="MONDO:equivalentTo", source="Orphanet:536532"} xref: Orphanet:536532 {source="MONDO:equivalentTo"} xref: UMLS:CN248508 {source="MONDO:equivalentTo"} @@ -447416,9 +467382,11 @@ is_a: MONDO:0019046 {source="OMIM:618006"} ! leukodystrophy id: MONDO:0054831 name: Coffin-Siris syndrome 7 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene." [MONDO:patterns/OMIM_disease_series_by_gene] +subset: gard_rare {source="GARD:16287"} synonym: "COFFIN-SIRIS syndrome 7" RELATED [OMIM:618027] synonym: "CSS7" RELATED ABBREVIATION [OMIM:618027] xref: DOID:0112369 {source="MONDO:equivalentTo"} +xref: GARD:16287 {source="OMIM:618027"} xref: OMIM:618027 {source="MONDO:equivalentTo"} xref: UMLS:CN248780 {source="MONDO:equivalentTo"} is_a: MONDO:0015452 {source="OMIM:618027"} ! Coffin-Siris syndrome @@ -447428,9 +467396,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054832 name: corneal dystrophy, posterior polymorphous, 4 +subset: gard_rare {source="GARD:18215"} synonym: "corneal dystrophy, POSTERIOR polymorphous, 4" RELATED [OMIM:618031] synonym: "PPCD4" RELATED ABBREVIATION [OMIM:618031] xref: DOID:0080669 {source="MONDO:equivalentTo"} +xref: GARD:18215 {source="OMIM:618031"} xref: OMIM:618031 {source="MONDO:equivalentTo"} xref: UMLS:CN248531 {source="MONDO:equivalentTo"} is_a: MONDO:0020364 {source="OMIM:618031"} ! posterior polymorphous corneal dystrophy @@ -447438,11 +467408,13 @@ is_a: MONDO:0020364 {source="OMIM:618031"} ! posterior polymorphous corneal dyst [Term] id: MONDO:0054833 name: charcot-marie-tooth disease, axonal, type 2DD +subset: gard_rare {source="GARD:17959"} subset: ordo_disease synonym: "Charcot-Marie-tooth disease, axonal, type 2DD" RELATED [OMIM:618036] synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [OMIM:618036] synonym: "CMT2DD" RELATED ABBREVIATION [OMIM:618036] xref: DOID:0111558 {source="MONDO:equivalentTo"} +xref: GARD:17959 {source="Orphanet:521414"} xref: OMIM:618036 {source="Orphanet:521414", source="MONDO:equivalentTo"} xref: Orphanet:521414 {source="MONDO:equivalentTo"} xref: UMLS:CN248781 {source="MONDO:equivalentTo"} @@ -447517,10 +467489,12 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o [Term] id: MONDO:0054843 name: ciliary dyskinesia, primary, 38 +subset: gard_rare {source="GARD:16288"} synonym: "CILD38" RELATED ABBREVIATION [OMIM:618063] synonym: "ciliary dyskinesia, PRIMARY, 38" RELATED [OMIM:618063] synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [OMIM:618063] xref: DOID:0111852 {source="MONDO:equivalentTo"} +xref: GARD:16288 {source="OMIM:618063"} xref: OMIM:618063 {source="MONDO:equivalentTo"} xref: UMLS:CN252651 {source="MONDO:equivalentTo"} is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia @@ -447528,9 +467502,11 @@ is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia [Term] id: MONDO:0054844 name: pontocerebellar hypoplasia, type 1D +subset: gard_rare {source="GARD:16289"} synonym: "PCH1D" RELATED ABBREVIATION [OMIM:618065] synonym: "pontocerebellar hypoplasia, type 1D" EXACT [OMIM:618065] xref: DOID:0112323 {source="MONDO:equivalentTo"} +xref: GARD:16289 {source="OMIM:618065"} xref: OMIM:618065 {source="MONDO:equivalentTo"} xref: UMLS:CN252648 {source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="OMIM:618065"} ! pontocerebellar hypoplasia @@ -447584,9 +467560,11 @@ is_a: MONDO:0005265 {source="OMIM:618077"} ! inflammatory bowel disease [Term] id: MONDO:0054850 name: ovarian dysgenesis 6 +subset: gard_rare {source="GARD:18042"} synonym: "ODG6" RELATED ABBREVIATION [OMIM:618078] synonym: "ovarian dysgenesis 6" EXACT [OMIM:618078] xref: DOID:0080498 {source="MONDO:equivalentTo"} +xref: GARD:18042 {source="OMIM:618078"} xref: OMIM:618078 {source="MONDO:equivalentTo"} is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis @@ -447601,9 +467579,11 @@ is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome [Term] id: MONDO:0054860 name: hearing loss, autosomal recessive 110 +subset: gard_rare {source="GARD:18150"} synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094, OMIM:genemap2] synonym: "DFNB110" NARROW ABBREVIATION [OMIM:618094] xref: DOID:0111644 {source="MONDO:equivalentTo"} +xref: GARD:18150 {source="OMIM:618094"} xref: OMIM:618094 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:618094"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -447612,10 +467592,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0054861 name: intellectual disability, autosomal recessive 63 +subset: gard_rare {source="GARD:16475"} synonym: "intellectual disability, autosomal recessive 63" EXACT [OMIM:618095] synonym: "mental retardation, autosomal recessive 63" RELATED DEPRECATED [OMIM:618095] synonym: "MRT63" RELATED DEPRECATED [OMIM:618095] xref: DOID:0081224 {source="MONDO:equivalentTo"} +xref: GARD:16475 {source="OMIM:618095"} xref: OMIM:618095 {source="MONDO:equivalentTo"} is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability @@ -447632,9 +467614,11 @@ is_a: MONDO:0019852 {source="OMIM:618096"} ! inherited primary ovarian failure [Term] id: MONDO:0054865 name: encephalopathy due to mitochondrial and peroxisomal fission defect +subset: gard_rare {source="GARD:22192"} subset: ordo_disease synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [OMIMPS:614388] synonym: "encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] +xref: GARD:22192 {source="Orphanet:527276"} xref: OMIMPS:614388 {source="MONDO:equivalentTo"} xref: Orphanet:527276 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 ! brain disorder @@ -447646,7 +467630,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614388"} ! inheri [Term] id: MONDO:0054866 name: sudden arrhythmia death syndrome -subset: gard_rare synonym: "SADS" RELATED ABBREVIATION [GARD:0009434] synonym: "sudden arrhythmic death syndrome" EXACT [GARD:0009434, UMLS:C2721586] synonym: "sudden cardiac death due to cardiac arrhythmia" RELATED [UMLS:C2721586] @@ -447675,7 +467658,6 @@ is_a: MONDO:0004567 {source="NCIT:C98979"} ! ileus [Term] id: MONDO:0054869 name: nondystrophic myotonia -subset: gard_rare synonym: "NDM" RELATED ABBREVIATION [GARD:0009852] xref: MESH:C536245 {source="MONDO:equivalentTo"} xref: UMLS:C2931139 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009852"} @@ -447684,6 +467666,7 @@ is_a: MONDO:0016120 ! myotonic syndrome [Term] id: MONDO:0056795 name: X-linked spermatogenic failure 1 +subset: gard_rare {source="GARD:8406"} synonym: "Del Castillo syndrome" RELATED [OMIM:305700] synonym: "Germinal cell aplasia" RELATED [OMIM:305700] synonym: "Sertoli cell-only syndrome" RELATED [OMIM:305700] @@ -447691,6 +467674,7 @@ synonym: "spermatogenic failure, X-linked, 1" RELATED [MONDO:Lexical, OMIM:30570 synonym: "spermatogenic failure, X-linked, type 1" EXACT [MONDORULE:1, OMIM:305700] synonym: "SPGFX1" EXACT ABBREVIATION [DOID:0070189, MONDO:Lexical, OMIM:305700] xref: DOID:0070189 {source="MONDO:equivalentTo"} +xref: GARD:8406 {source="OMIM:305700"} xref: OMIM:305700 {source="DOID:0070189", source="MONDO:equivalentTo", source="DOID:0050457"} xref: Orphanet:399805 {source="OMIM:305700"} xref: UMLS:C1384583 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:305700"} @@ -447999,9 +467983,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0060486 name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +subset: gard_rare {source="GARD:18566"} synonym: "AMCNMY" RELATED ABBREVIATION [OMIM:617468] synonym: "arthrogryposis multiplex congenita, neurogenic, with myelin defect" EXACT [OMIM:617468] xref: DOID:0080978 {source="MONDO:equivalentTo"} +xref: GARD:18566 {source="OMIM:617468"} xref: OMIM:617468 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:617468"} xref: UMLS:C4479539 {source="OMIM:617468", source="MONDO:notFoundInDiseaseSubset"} @@ -448027,9 +468013,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060490 name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies def: "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum." [Orphanet:544469] +subset: gard_rare {source="GARD:17985"} subset: ordo_disorder synonym: "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" EXACT [OMIM:617481] synonym: "NMIHBA" RELATED ABBREVIATION [OMIM:617481] +xref: GARD:17985 {source="Orphanet:544469"} xref: ICD10CM:Q07.8 {source="Orphanet:544469", source="MONDO:mondoSubClassOfSource"} xref: OMIM:617481 {source="Orphanet:544469", source="MONDO:equivalentTo"} xref: Orphanet:544469 {source="MONDO:equivalentTo"} @@ -448043,9 +468031,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060491 name: neurodevelopmental disorder with involuntary movements comment: Editor note: todo - check orphanet xref +subset: gard_rare {source="GARD:16232"} synonym: "NEDIM" RELATED ABBREVIATION [OMIM:617493] synonym: "neurodevelopmental disorder with involuntary movements" EXACT [OMIM:617493] xref: DOID:0112276 {source="MONDO:equivalentTo"} +xref: GARD:16232 {source="OMIM:617493"} xref: OMIM:617493 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617493"} xref: UMLS:C4479569 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617493"} @@ -448068,9 +468058,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060502 name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +subset: gard_rare {source="GARD:17960"} subset: ordo_malformation_syndrome synonym: "NDMSBA" RELATED ABBREVIATION [OMIM:617527] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" EXACT [OMIM:617527] +xref: GARD:17960 {source="Orphanet:521426"} xref: OMIM:617527 {source="MONDO:equivalentTo", source="Orphanet:521426"} xref: Orphanet:521426 {source="MONDO:equivalentTo"} xref: UMLS:C4479631 {source="OMIM:617527", source="MONDO:equivalentTo"} @@ -448093,8 +468085,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060510 name: Cohen-Gibson syndrome +subset: gard_rare {source="GARD:16235"} synonym: "COGIS" RELATED ABBREVIATION [OMIM:617561] synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561] +xref: GARD:16235 {source="OMIM:617561"} xref: OMIM:617561 {source="MONDO:equivalentTo"} xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="OMIM:617561"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448126,8 +468120,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0060533 name: microcephaly, short stature, and limb abnormalities +subset: gard_rare {source="GARD:18655"} synonym: "microcephaly, short stature, and limb abnormalities" EXACT [OMIM:617604] synonym: "MISSLA" RELATED ABBREVIATION [OMIM:617604] +xref: GARD:18655 {source="Orphanet:572773"} xref: OMIM:617604 {source="MONDO:equivalentTo"} xref: Orphanet:572773 {source="MONDO:equivalentTo"} xref: UMLS:C4539873 {source="OMIM:617604", source="MONDO:equivalentTo"} @@ -448165,10 +468161,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0060554 name: vertebral, cardiac, renal, and limb defects syndrome 1 +subset: gard_rare {source="GARD:18508"} synonym: "3-hydroxyanthranilic acidemia" RELATED [OMIM:617660] synonym: "congenital NAD deficiency Disorder 1" RELATED [OMIM:617660] synonym: "VCRL1" RELATED ABBREVIATION [OMIM:617660] synonym: "vertebral, cardiac, renal, and limb defects syndrome 1" EXACT CLINGEN_PREFERRED [OMIM:617660] +xref: GARD:18508 {source="OMIM:617660"} xref: OMIM:617660 {source="MONDO:equivalentTo"} xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="OMIM:617660"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448180,10 +468178,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060555 name: vertebral, cardiac, renal, and limb defects syndrome 2 comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) +subset: gard_rare {source="GARD:18509"} synonym: "congenital NAD deficiency disorder 2" RELATED [OMIM:617661] synonym: "kynureninase deficiency, complete" RELATED [OMIM:617661] synonym: "VCRL2" RELATED ABBREVIATION [OMIM:617661] synonym: "vertebral, cardiac, renal, and limb defects syndrome 2" EXACT CLINGEN_PREFERRED [OMIM:617661] +xref: GARD:18509 {source="OMIM:617661"} xref: OMIM:617661 {source="MONDO:equivalentTo"} xref: UMLS:C4540014 {source="MONDO:equivalentTo", source="OMIM:617661"} intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome @@ -448194,9 +468194,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060556 name: joint laxity, short stature, and myopia +subset: gard_rare {source="GARD:17963"} subset: ordo_malformation_syndrome synonym: "JLSM" RELATED ABBREVIATION [OMIM:617662] synonym: "joint laxity, short stature, and myopia" EXACT [OMIM:617662] +xref: GARD:17963 {source="Orphanet:527450"} xref: OMIM:617662 {source="MONDO:equivalentTo", source="Orphanet:527450"} xref: Orphanet:527450 {source="MONDO:equivalentTo"} xref: UMLS:C4540020 {source="MONDO:equivalentTo", source="OMIM:617662"} @@ -448224,11 +468226,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060564 name: HELIX syndrome +subset: gard_rare {source="GARD:17967"} subset: ordo_disease synonym: "HELIX" EXACT ABBREVIATION [OMIM:617671] synonym: "HELIX syndrome" EXACT [OMIM:617671, Orphanet:528105] synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" RELATED [OMIM:617671] synonym: "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" EXACT [MONDO:0033939] +xref: GARD:17967 {source="Orphanet:528105"} xref: OMIM:617671 {source="MONDO:equivalentTo"} xref: Orphanet:528105 {source="MONDO:equivalentTo"} xref: UMLS:C4522164 {source="MONDO:equivalentTo", source="OMIM:617671"} @@ -448241,10 +468245,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0060568 name: Pilarowski-Bjornsson syndrome +subset: gard_rare {source="GARD:17970"} subset: ordo_malformation_syndrome synonym: "developmental delay and speech apraxia with or without seizures" RELATED [OMIM:617682] synonym: "Pilarowski-Bjornsson syndrome" EXACT [OMIM:617682] synonym: "PILBOS" RELATED ABBREVIATION [OMIM:617682] +xref: GARD:17970 {source="Orphanet:529965"} xref: OMIM:617682 {source="MONDO:equivalentTo", source="Orphanet:529965"} xref: Orphanet:529965 {source="MONDO:equivalentTo"} xref: UMLS:C4540131 {source="MONDO:equivalentTo", source="OMIM:617682"} @@ -448256,8 +468262,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0060577 name: neurodevelopmental disorder with microcephaly, ataxia, and seizures +subset: gard_rare {source="GARD:22576"} synonym: "NEDMAS" RELATED ABBREVIATION [OMIM:617709] synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures" EXACT [OMIM:617709] +xref: GARD:22576 {source="OMIM:617709"} xref: OMIM:617709 {source="MONDO:equivalentTo"} xref: UMLS:C4540188 {source="MONDO:equivalentTo", source="OMIM:617709"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448267,8 +468275,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060578 name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +subset: gard_rare {source="GARD:18012"} synonym: "NEMMLAS" RELATED ABBREVIATION [OMIM:617710] synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" EXACT [OMIM:617710] +xref: GARD:18012 {source="Orphanet:572798"} xref: OMIM:617710 {source="MONDO:equivalentTo"} xref: Orphanet:572798 {source="MONDO:equivalentTo"} xref: UMLS:C4540192 {source="OMIM:617710", source="MONDO:equivalentTo"} @@ -448279,9 +468289,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060582 name: auditory neuropathy-optic atrophy syndrome +subset: gard_rare {source="GARD:17983"} subset: ordo_disease synonym: "ANOA" RELATED ABBREVIATION [OMIM:617717] synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717] +xref: GARD:17983 {source="Orphanet:542585"} xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"} xref: Orphanet:542585 {source="MONDO:equivalentTo"} xref: UMLS:C4521678 {source="MONDO:equivalentTo", source="OMIM:617717"} @@ -448365,9 +468377,12 @@ is_obsolete: true id: MONDO:0060596 name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies comment: Editor note: Check ORDO class, may refer to more generic class +subset: gard_rare {source="GARD:18513", source="GARD:17965"} subset: ordo_disease synonym: "NEDDFL" RELATED ABBREVIATION [OMIM:617755] synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" EXACT [OMIM:617755] +xref: GARD:17965 {source="Orphanet:528084"} +xref: GARD:18513 {source="OMIM:617755"} xref: OMIM:617755 {source="Orphanet:528084", source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="MONDO:equivalentTo"} xref: UMLS:C4540327 {source="OMIM:617755", source="MONDO:equivalentTo"} @@ -448425,10 +468440,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060627 name: glycosylphosphatidylinositol biosynthesis defect 15 def: "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." [Orphanet:529665] +subset: gard_rare {source="GARD:17969"} subset: ordo_malformation_syndrome synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [OMIM:617810] synonym: "glycosylphosphatidylinositol biosynthesis defect 15" EXACT [OMIM:617810] synonym: "GPIBD15" RELATED ABBREVIATION [OMIM:617810] +xref: GARD:17969 {source="Orphanet:529665"} xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"} xref: Orphanet:529665 {source="MONDO:equivalentTo"} xref: UMLS:C4540520 {source="OMIM:617810", source="MONDO:equivalentTo"} @@ -448454,9 +468471,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060631 name: Alkuraya-Kucinskas syndrome +subset: gard_rare {source="GARD:18022"} synonym: "ALKKUCS" RELATED ABBREVIATION [OMIM:617822] synonym: "Alkuraya-Kucinskas syndrome" EXACT [OMIM:617822] xref: DOID:0111555 {source="MONDO:equivalentTo"} +xref: GARD:18022 {source="Orphanet:610569"} xref: OMIM:617822 {source="MONDO:equivalentTo"} xref: Orphanet:610569 {source="MONDO:equivalentTo"} xref: UMLS:CN737163 {source="MONDO:equivalentTo"} @@ -448590,10 +468609,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060671 name: epilepsy, juvenile myoclonic, susceptibility to, 10 +subset: gard_rare {source="GARD:16269"} subset: predisposition synonym: "EJM10" RELATED ABBREVIATION [OMIM:617924] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 10" EXACT [OMIM:617924] xref: DOID:0111325 {source="MONDO:equivalentTo"} +xref: GARD:16269 {source="OMIM:617924"} xref: OMIM:617924 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:617924"} is_a: MONDO:0020573 {source="OMIM:617924"} ! inherited disease susceptibility @@ -448660,8 +468681,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060707 name: Ververi-Brady syndrome +subset: gard_rare {source="GARD:18015"} synonym: "VERBRAS" RELATED ABBREVIATION [OMIM:617982] synonym: "Ververi-Brady syndrome" EXACT [OMIM:617982] +xref: GARD:18015 {source="Orphanet:580940"} xref: OMIM:617982 {source="MONDO:equivalentTo"} xref: Orphanet:580940 {source="MONDO:equivalentTo"} xref: UMLS:CN244927 {source="MONDO:equivalentTo"} @@ -448698,8 +468721,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0060714 name: tumoral calcinosis, hyperphosphatemic, familial, 2 +subset: gard_rare {source="GARD:16281"} synonym: "HFTC2" RELATED ABBREVIATION [OMIM:617993] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [OMIM:617993] +xref: GARD:16281 {source="OMIM:617993"} xref: OMIM:617993 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="OMIM:617993"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448709,8 +468734,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060715 name: tumoral calcinosis, hyperphosphatemic, familial, 3 +subset: gard_rare {source="GARD:16282"} synonym: "HFTC3" RELATED ABBREVIATION [OMIM:617994] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [OMIM:617994] +xref: GARD:16282 {source="OMIM:617994"} xref: OMIM:617994 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="OMIM:617994"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448756,10 +468783,12 @@ is_a: MONDO:0019263 ! autosomal erythropoietic protoporphyria [Term] id: MONDO:0060732 name: tetraamelia syndrome 2 +subset: gard_rare {source="GARD:16286"} synonym: "TETAMS2" RELATED ABBREVIATION [OMIM:618021] synonym: "tetraamelia syndrome 2" EXACT [OMIM:618021] synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [OMIM:618021] xref: DOID:0112193 {source="MONDO:equivalentTo"} +xref: GARD:16286 {source="OMIM:618021"} xref: OMIM:618021 {source="MONDO:equivalentTo"} xref: Orphanet:3301 {source="OMIM:618021"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -448809,11 +468838,13 @@ is_a: MONDO:0014776 ! spinocerebellar ataxia type 42 [Term] id: MONDO:0060759 name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +subset: gard_rare {source="GARD:22396"} subset: ordo_disease synonym: "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" EXACT [MONDO:0035363] synonym: "NEDAMSS" RELATED ABBREVIATION [OMIM:618088] synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" EXACT [OMIM:618088] xref: DOID:0081327 {source="MONDO:equivalentTo"} +xref: GARD:22396 {source="Orphanet:597623"} xref: OMIM:618088 {source="MONDO:equivalentTo"} xref: Orphanet:597623 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -448864,11 +468895,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060764 name: tetraamelia syndrome 1 +subset: gard_rare {source="GARD:15238"} synonym: "TETAMS1" RELATED ABBREVIATION [OMIM:273395] synonym: "Tetra-amelia syndrome 1" EXACT [OMIM:273395, OMIM:genemap2] synonym: "tetraamelia syndrome 1" EXACT [OMIM:273395] synonym: "tetraamelia syndrome, autosomal recessive" RELATED [OMIM:273395] xref: DOID:0112192 {source="MONDO:equivalentTo"} +xref: GARD:15238 {source="OMIM:273395"} xref: OMIM:273395 {source="MONDO:equivalentTo"} xref: Orphanet:3301 {source="OMIM:273395"} xref: UMLS:C4012268 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:273395"} @@ -449049,7 +469082,9 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100003 name: susceptibility to angioedema induced by ACE inhibitors def: "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." [MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:18259"} synonym: "angioedema induced by ACE inhibitors, susceptibility to" EXACT [OMIM:300909, OMIM:genemap2] +xref: GARD:18259 {source="OMIM:300909"} xref: OMIM:300909 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:300909"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -449209,7 +469244,6 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100017 name: pityriasis rubra pilaris def: "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." [GARD:0007401] -subset: gard_rare {source="GARD:0007401"} xref: DOID:9212 {source="MONDO:equivalentTo"} xref: ICD10CM:L44.0 {source="MONDO:equivalentTo", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} xref: ICD9:696.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9212"} @@ -449723,6 +469757,7 @@ name: developmental and epileptic encephalopathy def: "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." [PMID:28276062] comment: Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. {xref="PMID:26544041", xref="PMID:26704558", xref="PMID:26645412", xref="PMID:26993267", xref="PMID:27476654"} subset: clingen +subset: gard_rare {source="GARD:9255"} subset: ordo_clinical_syndrome {source="Orphanet:1934"} synonym: "DEE" EXACT ABBREVIATION [] synonym: "developmental and epileptic encephalopathy" EXACT CLINGEN_PREFERRED [https://orcid.org/0000-0001-8486-0558] @@ -449740,6 +469775,7 @@ xref: DOID:0050709 {source="MONDO:equivalentTo"} xref: DOID:0112202 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2481 {source="MONDO:equivalentObsolete", source="EFO:1000643"} xref: EFO:1000643 {source="MONDO:equivalentTo"} +xref: GARD:9255 {source="Orphanet:1934"} xref: ICD10CM:G40.3 {source="Orphanet:1934", source="Orphanet:1934/attributed", source="Orphanet:1934/ntbt"} xref: ICD10CM:G40.82 {source="DOID:2481"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -449993,6 +470029,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0100083 name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 def: "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." [https://clinicalgenome.org/affiliation/50034/] +subset: gard_rare {source="GARD:15329"} synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" EXACT OMO:0003005 [] @@ -450007,6 +470044,7 @@ synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/a synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] +xref: GARD:15329 {source="OMIM:601399"} xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} is_a: MONDO:0011071 {source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10471 {source="https://clinicalgenome.org/affiliation/50034/"} ! RUNX1 @@ -450107,7 +470145,6 @@ id: MONDO:0100091 name: inherited pseudoxanthoma elasticum def: "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] comment: Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues -subset: gard_rare {source="GARD:0009643"} synonym: "inherited Gronblad Strandberg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] synonym: "inherited PXE" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum] is_a: MONDO:0024308 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! pseudoxanthoma elasticum (inherited or acquired) @@ -450238,10 +470275,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100101 name: fetal akinesia deformation sequence 1 def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." [OMIM:208150] +subset: gard_rare {source="GARD:9634"} synonym: "FADS1" EXACT ABBREVIATION [OMIM:208150] synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994] synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150] xref: DOID:0111377 {source="MONDO:equivalentTo"} +xref: GARD:9634 {source="Orphanet:994"} xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="Orphanet:994/e"} xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"} is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence @@ -450253,8 +470292,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100102 name: fetal akinesia deformation sequence 2 def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." [OMIM:618388] +subset: gard_rare {source="GARD:16495"} synonym: "FADS2" EXACT ABBREVIATION [OMIM:618388] xref: DOID:0111378 {source="MONDO:equivalentTo"} +xref: GARD:16495 {source="OMIM:618388"} xref: OMIM:618388 {source="MONDO:equivalentTo"} is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence @@ -450265,8 +470306,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100103 name: fetal akinesia deformation sequence 3 def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." [OMIM:618389] +subset: gard_rare {source="GARD:16496"} synonym: "FADS3" EXACT ABBREVIATION [OMIM:618389] xref: DOID:0111376 {source="MONDO:equivalentTo"} +xref: GARD:16496 {source="OMIM:618389"} xref: OMIM:618389 {source="MONDO:equivalentTo"} is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence @@ -450277,8 +470320,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100104 name: fetal akinesia deformation sequence 4 def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." [OMIM:618393] +subset: gard_rare {source="GARD:16497"} synonym: "FADS4" EXACT ABBREVIATION [OMIM:618393] xref: DOID:0111379 {source="MONDO:equivalentTo"} +xref: GARD:16497 {source="OMIM:618393"} xref: OMIM:618393 {source="MONDO:equivalentTo"} is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence @@ -450388,8 +470433,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100115 name: acute flaccid myelitis def: "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause." [NCIT:C128379] +subset: gard_rare {source="GARD:13142"} synonym: "AFM" EXACT ABBREVIATION [https://www.cdc.gov/acute-flaccid-myelitis/index.html] xref: DOID:0080947 {source="MONDO:equivalentTo"} +xref: GARD:13142 {source="Orphanet:623801"} xref: MESH:C000629404 {source="MONDO:equivalentTo"} xref: NCIT:C128379 {source="MONDO:equivalentTo"} xref: Orphanet:623801 {source="MONDO:equivalentTo"} @@ -450400,10 +470447,12 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0100116 name: Middle East respiratory syndrome def: "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." [NCIT:C128424] +subset: gard_rare {source="GARD:22321"} subset: ordo_disease synonym: "camel flu" EXACT [Wikipedia:Middle_East_respiratory_syndrome] synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424] xref: DOID:0080642 {source="MONDO:equivalentTo"} +xref: GARD:22321 {source="Orphanet:576074"} xref: NCIT:C128424 {source="MONDO:equivalentTo"} xref: Orphanet:576074 {source="MONDO:equivalentTo"} xref: UMLS:C3694279 {source="MONDO:equivalentTo"} @@ -450581,6 +470630,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100130 name: adult acute respiratory distress syndrome def: "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." [Orphanet:70578] +subset: gard_rare {source="GARD:18902"} subset: ordo_disease {source="Orphanet:70578"} synonym: "adult acute respiratory distress syndrome" EXACT [MONDO:0019089] synonym: "adult ARDS" EXACT [Orphanet:70578] @@ -450590,6 +470640,7 @@ synonym: "adult respiratory distress syndrome, ARDS" EXACT [NCIT:C3353] synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621] synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698] xref: DOID:11394 {source="MONDO:equivalentTo"} +xref: GARD:18902 {source="Orphanet:70578"} xref: MESH:D012128 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: Orphanet:70578 {source="MONDO:equivalentTo"} xref: SCTID:67782005 {source="MONDO:equivalentTo", source="DOID:11394"} @@ -450624,7 +470675,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100133 name: mitochondrial complex I deficiency def: "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." [GARD:0003908] -subset: gard_rare {source="GARD:0003908"} +subset: gard_rare {source="GARD:3908"} subset: ordo_disease {source="Orphanet:2609"} synonym: "complex 1 mitochondrial respiratory chain deficiency" EXACT [GARD:0003908] synonym: "isolated complex I deficiency" EXACT [GARD:0003908] @@ -450634,6 +470685,7 @@ synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet: synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "NADH coenzyme Q reductase deficiency" EXACT [GARD:0003908] xref: DOID:0060536 {source="MONDO:equivalentTo"} +xref: GARD:3908 {source="Orphanet:2609"} xref: MESH:C537475 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="MONDO:equivalentTo"} xref: UMLS:C2936907 {source="MONDO:equivalentObsolete", source="Orphanet:2609/e", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609"} @@ -450654,7 +470706,6 @@ id: MONDO:0100135 name: Dravet syndrome def: "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-7090-9648, https://orcid.org/0000-0002-6601-2165] comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 -subset: gard_rare {source="GARD:0010430"} synonym: "Dravet syndrome" EXACT CLINGEN_PREFERRED [OMIM:607208] synonym: "DS" EXACT ABBREVIATION [Orphanet:33069] synonym: "myoclonic epilepsy, severe, of infancy" RELATED [GARD:0010430] @@ -450794,9 +470845,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100147 name: SATB2 associated disorder def: "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:17377962, PMID:29436146, PMID:31021519] +subset: gard_rare {source="GARD:22326"} synonym: "SAS" EXACT ABBREVIATION [Orphanet:576278] synonym: "SATB2 associated disorder" EXACT CLINGEN_PREFERRED [] synonym: "SATB2-associated syndrome" EXACT [Orphanet:576278] +xref: GARD:22326 {source="Orphanet:576278"} xref: Orphanet:576278 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/"} ! syndromic intellectual disability intersection_of: MONDO:0000508 ! syndromic intellectual disability @@ -451024,7 +471077,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100164 name: permanent neonatal diabetes mellitus def: "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." [Orphanet:99885] -subset: gard_rare {source="GARD:0010457"} +subset: gard_rare {source="GARD:10457"} subset: ordo_disease {source="Orphanet:99885"} synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [OMIMPS:606176] synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical, OMIMPS:606176] @@ -451035,6 +471088,7 @@ synonym: "PDMI" EXACT ABBREVIATION [DOID:0060639, OMIMPS:606176] synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639] synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885] xref: DOID:0060639 {source="MONDO:equivalentTo"} +xref: GARD:10457 {source="Orphanet:99885"} xref: ICD10CM:P70.2 {source="Orphanet:99885", source="Orphanet:99885/attributed", source="Orphanet:99885/ntbt"} xref: MESH:C563425 {source="MONDO:equivalentTo"} xref: NCIT:C114902 {source="MONDO:equivalentTo"} @@ -451279,7 +471333,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100186 name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia -subset: gard_rare {source="GARD:0002844"} +subset: gard_rare {source="GARD:2844"} subset: ordo_clinical_subtype {source="Orphanet:2102"} synonym: "GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] synonym: "GTP cyclohydrolase I deficiency" RELATED [Orphanet:2102] @@ -451290,6 +471344,7 @@ synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO: synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] xref: DOID:0112225 {source="MONDO:equivalentTo"} +xref: GARD:2844 {source="Orphanet:2102"} xref: ICD10CM:E70.1 {source="Orphanet:2102", source="Orphanet:2102/attributed", source="Orphanet:2102/ntbt"} xref: NCIT:C141442 {source="MONDO:equivalentTo"} xref: OMIM:233910 {source="Orphanet:2102", source="MONDO:equivalentTo", source="Orphanet:2102/e"} @@ -451331,9 +471386,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100189 name: obsolete apolipoprotein A-I deficiency def: "OBSOLETE. A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." [Orphanet:425] +subset: gard_rare {source="GARD:2872"} synonym: "ApoA-I deficiency" EXACT [Orphanet:425] synonym: "familial apoA-I deficiency" EXACT [Orphanet:425] synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425] +xref: GARD:2872 {source="Orphanet:425", source="MONDO:obsoleteEquivalent"} xref: Orphanet:425 {source="MONDO:obsoleteEquivalent"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -451588,6 +471645,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100211 name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive +subset: gard_rare {source="GARD:18311", source="GARD:17133"} subset: ordo_disease {source="Orphanet:220465"} synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [OMIM:245590] synonym: "growth hormone insensitivity with immunodeficiency" RELATED [OMIM:245590] @@ -451596,6 +471654,8 @@ synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510] synonym: "Laron-like syndrome" EXACT [Orphanet:220465] synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465] xref: DOID:0080836 {source="MONDO:equivalentTo"} +xref: GARD:17133 {source="Orphanet:220465"} +xref: GARD:18311 {source="OMIM:245590"} xref: ICD10CM:D82.8 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"} xref: ICD10CM:E34.3 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"} xref: MESH:C537871 {source="MONDO:equivalentTo"} @@ -451635,6 +471695,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100213 name: IFAP syndrome with or without BRESHECK syndrome def: "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." [OMIM:308205] +subset: gard_rare {source="GARD:2952", source="GARD:15297"} subset: ordo_disease {source="Orphanet:2273"} synonym: "ichthyosis follicularis atrichia photophobia syndrome" RELATED [GARD:0002952] synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [OMIM:308205] @@ -451645,6 +471706,8 @@ synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT CLINGEN_PREFERR synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [OMIM:308205, OMIM:genemap2] synonym: "IFAP/BRESHECK syndrome" EXACT [MONDO:0010624] xref: DOID:0111821 {source="MONDO:equivalentTo"} +xref: GARD:15297 {source="OMIM:308205"} +xref: GARD:2952 {source="Orphanet:2273"} xref: MESH:C536085 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: OMIM:308205 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: Orphanet:2273 {source="OMIM:308205", source="MONDO:equivalentTo"} @@ -451674,12 +471737,15 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100215 name: Rajab interstitial lung disease with brain calcifications 1 +subset: gard_rare {source="GARD:17082", source="GARD:18297"} subset: ordo_disease {source="Orphanet:178506"} synonym: "brain calcification, Rajab type" EXACT [MONDO:0013346] synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [OMIM:613658] synonym: "NEDBLLA" RELATED ABBREVIATION [OMIM:618007] synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007] synonym: "Rajab syndrome" RELATED [OMIM:613658] +xref: GARD:17082 {source="Orphanet:178506"} +xref: GARD:18297 {source="OMIM:613658"} xref: OMIM:613658 {source="Orphanet:178506/e", source="MONDO:equivalentTo", source="Orphanet:178506"} xref: OMIM:618007 {source="MONDO:equivalentObsolete"} xref: Orphanet:178506 {source="MONDO:equivalentTo", source="OMIM:613658"} @@ -451697,7 +471763,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100216 name: DICER1-related tumor predisposition def: "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described." [https://clinicalgenome.org/affiliation/40023/, https://clinicalgenome.org/affiliation/50050/, PMID:21266384, PMID:24761742, PMID:34599283] -subset: gard_rare +subset: gard_rare {source="GARD:10734"} subset: ordo_clinical_subtype {source="Orphanet:284343"} synonym: "DICER1 syndrome" EXACT CLINGEN_PREFERRED [GARD:0010734, NCIT:C123317, Orphanet:284343] synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734] @@ -451711,6 +471777,7 @@ synonym: "PPB familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPBFTDS" EXACT ABBREVIATION [Orphanet:284343] xref: DOID:0081063 {source="MONDO:equivalentTo"} xref: EFO:0009068 {source="MONDO:equivalentTo"} +xref: GARD:10734 {source="Orphanet:284343"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C123317 {source="MONDO:equivalentTo"} xref: Orphanet:284343 {source="MONDO:equivalentTo"} @@ -451750,10 +471817,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100219 name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +subset: gard_rare {source="GARD:18312"} synonym: "GHISID2" EXACT ABBREVIATION [OMIM:618985] synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" EXACT [OMIM:618985] synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [OMIM:618985, OMIM:genemap2] xref: DOID:0080837 {source="MONDO:equivalentTo"} +xref: GARD:18312 {source="OMIM:618985"} xref: OMIM:618985 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100210 {source="OMIM:618985"} ! growth hormone insensitivity syndrome with immune dysregulation @@ -451763,8 +471832,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100220 name: Rajab interstitial lung disease with brain calcifications 2 +subset: gard_rare {source="GARD:18298"} synonym: "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2" EXACT [OMIM:619013] synonym: "RILDBC2" EXACT ABBREVIATION [OMIM:619013] +xref: GARD:18298 {source="OMIM:619013"} xref: OMIM:619013 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100214 {source="OMIM:619013"} ! Rajab interstitial lung disease with brain calcifications @@ -451773,10 +471844,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100221 name: IFAP syndrome 2 +subset: gard_rare {source="GARD:16402"} synonym: "ichthyosis , follicular, with atrichia and photophobia syndrome 2" EXACT [OMIM:619016, OMIM:genemap2] synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome 2" EXACT [OMIM:619016] synonym: "IFAP SYNDROME 2" EXACT [OMIM:619016] synonym: "IFAP2" EXACT ABBREVIATION [OMIM:619016] +xref: GARD:16402 {source="OMIM:619016"} xref: OMIM:619016 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100212 {source="OMIM:619016"} ! IFAP syndrome @@ -451806,6 +471879,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100224 name: mitochondrial complex I deficiency, nuclear type 1 +subset: gard_rare {source="GARD:15201"} synonym: "MC1DN1" EXACT ABBREVIATION [OMIM:252010] synonym: "mitochondrial complex 1 deficiency" BROAD [OMIM:252010] synonym: "mitochondrial complex I deficiency" BROAD [OMIM:252010] @@ -451815,6 +471889,7 @@ synonym: "NADH-coenzyme Q reductase deficiency" EXACT [OMIM:252010] synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT [OMIM:252010] xref: DOID:0060536 xref: DOID:0112074 {source="MONDO:equivalentTo"} +xref: GARD:15201 {source="OMIM:252010"} xref: ICD10CM:G71.3 {source="Orphanet:2609/attributed", source="Orphanet:2609/ntbt", source="Orphanet:2609"} xref: MESH:C537475 {source="DOID:0060536"} xref: OMIM:252010 {source="Orphanet:2609/e", source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609"} @@ -451888,12 +471963,14 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100229 name: obsolete Heimler syndrome def: "OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." [MONDO:patterns/disease_series_by_gene, PMID:26387595] +subset: gard_rare {source="GARD:1687"} subset: ordo_malformation_syndrome {source="Orphanet:3220"} synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" RELATED [GARD:0001687] synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687] synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325] synonym: "Heimler syndrome" EXACT [Orphanet:3220] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687] +xref: GARD:1687 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220"} xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"} xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"} xref: SCTID:721085000 {source="MONDO:obsoleteEquivalent"} @@ -451969,6 +472046,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100234 name: paroxysmal familial ventricular fibrillation def: "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." [Orphanet:228140] +subset: gard_rare {source="GARD:4227"} synonym: "idiopathic ventricular fibrillation" EXACT [GARD:0004227] synonym: "idiopathic ventricular fibrillation, non Brugada type" EXACT [Orphanet:228140] synonym: "IVF" EXACT ABBREVIATION [GARD:0004227] @@ -451976,6 +472054,7 @@ synonym: "paroxysmal familial ventricular fibrillation" EXACT [GARD:0004227] synonym: "paroxysmal familial ventricular fibrillation (disorder)" EXACT [] synonym: "paroxysmal ventricular fibrillation" EXACT [GARD:0004227] synonym: "ventricular fibrillation, paroxysmal familial" EXACT [GARD:0004227] +xref: GARD:4227 {source="Orphanet:228140"} xref: Orphanet:228140 {source="MONDO:equivalentTo", source="OMIM:603829"} is_a: MONDO:0000190 {source="https://orcid.org/0000-0001-5208-3432"} ! ventricular fibrillation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -452082,7 +472161,7 @@ replaced_by: MONDO:0100244 id: MONDO:0100244 name: paroxysmal nocturnal hemoglobinuria def: "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." [Orphanet:447] -subset: gard_rare {source="GARD:0007337"} +subset: gard_rare {source="GARD:7337"} subset: ordo_disease {source="Orphanet:447"} synonym: "acquired paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100245] synonym: "hereditary paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/hereditary] @@ -452091,6 +472170,7 @@ synonym: "Marchiafava-Micheli disease" EXACT [Orphanet:447] synonym: "paroxysmal hemoglobinuria" EXACT [NCIT:C61233] synonym: "PNH" EXACT ABBREVIATION [Orphanet:447] xref: DOID:0060284 {source="MONDO:equivalentTo"} +xref: GARD:7337 {source="Orphanet:447"} xref: HGNC:8957 {source="GARD:0007337"} xref: HP:0004818 {source="MONDO:otherHierarchy", source="DOID:0060284"} xref: ICD10CM:D59.1 {source="DOID:0060284"} @@ -452164,6 +472244,7 @@ is_a: MONDO:0015374 {source="https://orcid.org/0000-0001-5208-3432"} ! primary c id: MONDO:0100249 name: 46,XX testicular disorder of sex development def: "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." [Orphanet:393] +subset: gard_rare {source="GARD:399"} subset: ordo_malformation_syndrome {source="Orphanet:393"} synonym: "46, XX gonadal sex reversal" RELATED [GARD:0000399] synonym: "46,XX testicular differences of sex development" EXACT [NCIT:C127170] @@ -452176,6 +472257,7 @@ synonym: "XX Male, Sry-positive" RELATED [OMIM:400045] synonym: "XX sex reversal" RELATED [GARD:0000399] synonym: "XX, male syndrome" EXACT [Orphanet:393] xref: DOID:0111760 {source="MONDO:equivalentTo"} +xref: GARD:399 {source="Orphanet:393"} xref: ICD10CM:Q99.1 {source="Orphanet:393", source="Orphanet:393/attributed", source="Orphanet:393/ntbt"} xref: MESH:D058531 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: NCIT:C127170 {source="MONDO:equivalentTo"} @@ -452214,6 +472296,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100251 name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +subset: gard_rare {source="GARD:10879"} subset: ordo_clinical_subtype {source="Orphanet:306661"} synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [DOID:0111063] synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [DOID:0111063] @@ -452233,6 +472316,7 @@ synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [DOID:0111063] synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [DOID:0111063] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" RELATED [MONDO:0008897] xref: DOID:0111063 {source="MONDO:equivalentTo"} +xref: GARD:10879 {source="Orphanet:306661"} xref: ICD10CM:M11.2 {source="DOID:0111063", source="Orphanet:306661/attributed", source="Orphanet:306661/ntbt", source="Orphanet:306661"} xref: NCIT:C131851 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="DOID:0111063", source="MONDO:equivalentTo", source="OMIM:211900"} @@ -452250,6 +472334,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100252 name: tumoral calcinosis, hyperphosphatemic, familial, 1 +subset: gard_rare {source="GARD:15146"} synonym: "calcinosis, tumoral, with hyperphosphatemia" EXACT [OMIM:211900] synonym: "HFTC" BROAD ABBREVIATION [OMIM:211900] synonym: "HFTC1" EXACT ABBREVIATION [OMIM:211900] @@ -452261,6 +472346,7 @@ synonym: "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1" EXACT [OMIM:211900 synonym: "tumoral calcinosis, Hyperphosphatemic, familial, 1" EXACT [OMIM:211900] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" EXACT CLINGEN_PREFERRED [] synonym: "tumoral calcinosis, primary Hyperphosphatemic" EXACT [OMIM:211900] +xref: GARD:15146 {source="OMIM:211900"} xref: OMIM:211900 {source="MONDO:equivalentTo"} is_a: MONDO:0018891 ! familial tumoral calcinosis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -452270,6 +472356,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100253 name: Roberts-SC phocomelia syndrome def: "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." [NCIT:C4681, PMID:18411254] +subset: gard_rare {source="GARD:7387"} subset: ordo_malformation_syndrome {source="Orphanet:3103"} synonym: "Appelt-Gerken-Lenz syndrome" EXACT [GARD:0007387] synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT [DOID:0050536] @@ -452288,6 +472375,7 @@ synonym: "SC pseudothalidomide syndrome" NARROW [DOID:0050536, Orphanet:3103] synonym: "tetraphocomelia-cleft palate syndrome" EXACT [GARD:0007387] xref: DOID:0050536 {source="MONDO:equivalentObsolete"} xref: DOID:5325 {source="MONDO:equivalentTo"} +xref: GARD:7387 {source="Orphanet:3103"} xref: ICD10CM:Q73.8 {source="Orphanet:3103", source="Orphanet:3103/attributed", source="Orphanet:3103/ntbt"} xref: MESH:C535687 {source="Orphanet:3103", source="DOID:5325", source="MONDO:equivalentTo", source="Orphanet:3103/e"} xref: NCIT:C126326 @@ -452327,6 +472415,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100255 name: adenosine kinase deficiency def: "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011] +subset: gard_rare {source="GARD:17321"} subset: ordo_disease {source="Orphanet:289290"} synonym: "adenosine kinase deficiency" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40011/] synonym: "ADK deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011] @@ -452341,6 +472430,7 @@ synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATE synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [OMIM:611094] synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical, OMIM:611094] xref: DOID:0111038 {source="MONDO:equivalentTo"} +xref: GARD:17321 {source="Orphanet:289290"} xref: ICD10CM:E72.1 {source="Orphanet:289290", source="Orphanet:289290/attributed", source="Orphanet:289290/ntbt", source="DOID:0111038"} xref: MESH:C567015 {source="MONDO:equivalentTo"} xref: OMIM:611094 {source="MONDO:equivalentObsolete"} @@ -452636,6 +472726,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100280 name: Waldenstrom macroglobulinemia +subset: gard_rare {source="GARD:7872"} subset: ordo_disease {source="Orphanet:33226"} synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [DOID:0060901] synonym: "macroglobulinemia of Waldenstrom" RELATED [GARD:0007872] @@ -452646,6 +472737,7 @@ synonym: "Waldenstrom's macroglobulinemia" EXACT [NCIT:C80307] synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872] synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307] xref: DOID:0060901 {source="MONDO:equivalentTo"} +xref: GARD:7872 {source="Orphanet:33226"} xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} xref: MedDRA:10047801 {source="Orphanet:33226", source="Orphanet:33226/e"} xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} @@ -452761,9 +472853,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100289 name: Goldmann-Favre syndrome def: "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." [Orphanet:53540] +subset: gard_rare {source="GARD:10781"} subset: ordo_disease {source="Orphanet:53540"} synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] +xref: GARD:10781 {source="Orphanet:53540"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"} xref: SCTID:232065000 {source="MONDO:equivalentTo"} @@ -452825,7 +472919,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100294 name: mitochondrial complex II deficiency, nuclear type 1 def: "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." [https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency] -subset: gard_rare {source="GARD:0005053"} +subset: gard_rare {source="GARD:15202", source="GARD:5053"} subset: ordo_disease {source="Orphanet:3208"} synonym: "complex 2 mitochondrial respiratory chain deficiency" RELATED [GARD:0005053] synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [DOID:0060537, Orphanet:3208] @@ -452839,6 +472933,8 @@ synonym: "mitochondrial respiratory chain complex II deficiency" RELATED [GARD:0 synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011] synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053] xref: DOID:0060537 {source="MONDO:equivalentTo"} +xref: GARD:15202 {source="OMIM:252011"} +xref: GARD:5053 {source="Orphanet:3208"} xref: ICD10CM:G71.3 {source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/attributed", source="Orphanet:3208/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565375 {source="MONDO:equivalentTo", source="DOID:0060537"} @@ -452866,11 +472962,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100296 name: Olmsted syndrome 1 def: "Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene." [MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:15818"} subset: ordo_disease {source="Orphanet:659"} synonym: "Olmsted syndrome" BROAD [Orphanet:659] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" EXACT [MONDO:0019014, OMIM:614594] xref: DOID:0112013 {source="MONDO:equivalentTo"} +xref: GARD:15818 {source="OMIM:614594"} xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"} is_a: MONDO:0031421 {source="OMIM:614594"} ! Olmsted syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3 @@ -452938,6 +473035,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100303 name: ichthyosis, annular epidermolytic 1 def: "Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene." [OMIM:607602] +subset: gard_rare {source="GARD:15417"} +xref: GARD:15417 {source="OMIM:607602"} xref: OMIM:607602 {source="MONDO:equivalentTo"} is_a: MONDO:0011870 {source="OMIM:607602"} ! annular epidermolytic ichthyosis intersection_of: MONDO:0011870 ! annular epidermolytic ichthyosis @@ -453002,12 +473101,13 @@ id: MONDO:0100309 name: hereditary ataxia def: "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] subset: disease_grouping -subset: gard_rare {source="GARD:0006614"} +subset: gard_rare {source="GARD:20286"} subset: mondo_rare {source="PMID:24603320"} subset: ordo_group_of_disorders {source="Orphanet:183518"} synonym: "rare hereditary ataxia" EXACT [MONDO:0015956, Orphanet:183518] synonym: "SCA" RELATED ABBREVIATION [GARD:0010748] xref: DOID:0050951 {source="MONDO:equivalentTo"} +xref: GARD:20286 {source="Orphanet:183518"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G11 {source="MONDO:equivalentTo"} xref: MESH:C531684 {source="MONDO:equivalentTo"} @@ -453201,6 +473301,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100325 name: odontochondrodysplasia 1 def: "A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." [https://orcid.org/0000-0001-5208-3432, Orphanet:166272] +subset: gard_rare {source="GARD:8717"} subset: ordo_malformation_syndrome {source="Orphanet:166272"} synonym: "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" EXACT [Orphanet:166272] synonym: "Goldblatt chondrodysplasia" EXACT [Orphanet:166272] @@ -453208,6 +473309,7 @@ synonym: "Goldblatt syndrome" EXACT [OMIM:184260, Orphanet:166272] synonym: "ODCD" EXACT ABBREVIATION [Orphanet:166272] synonym: "odontochondrodysplasia" BROAD [OMIM:184260] synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260] +xref: GARD:8717 {source="Orphanet:166272"} xref: ICD10CM:Q78.8 {source="Orphanet:166272/attributed", source="Orphanet:166272/ntbt", source="Orphanet:166272"} xref: OMIM:184260 {source="Orphanet:166272/e", source="MONDO:equivalentTo", source="Orphanet:166272"} xref: Orphanet:166272 {source="MONDO:equivalentTo", source="OMIM:184260"} @@ -453223,7 +473325,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100326 name: Glanzmann thrombasthenia +subset: gard_rare {source="GARD:2478"} synonym: "Glanzmann thrombasthenia" EXACT CLINGEN_PREFERRED [] +xref: GARD:2478 {source="Orphanet:849"} xref: OMIMPS:273800 {source="MONDO:equivalentTo"} xref: Orphanet:849 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:273800", source="DOID:2219", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:273800"} ! inherited bleeding disorder, platelet-type @@ -453338,7 +473442,6 @@ property_value: IAO:0000589 "urinary tract infection (disease)" xsd:string id: MONDO:0100339 name: Friedreich ataxia def: "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." [GARD:0006468] -subset: gard_rare {source="GARD:0006468"} subset: ordo_disease {source="Orphanet:95"} synonym: "FA" EXACT ABBREVIATION [OMIM:229300, Orphanet:95] synonym: "FRDA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:229300, Orphanet:95] @@ -453372,11 +473475,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6468/friedre id: MONDO:0100340 name: Friedreich ataxia 1 def: "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene." [OMIM:229300] +subset: gard_rare {source="GARD:6468"} synonym: "FRDA1" EXACT [OMIM:229300] synonym: "Friedreich ataxia" BROAD [OMIM:229300, OMIM:genemap2] synonym: "Friedreich ataxia 1" EXACT CLINGEN_PREFERRED [DOID:12705, MONDO:Lexical, OMIM:229300] synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1, OMIM:229300] xref: DOID:0111218 {source="MONDO:equivalentTo"} +xref: GARD:6468 {source="Orphanet:95"} xref: MESH:C565561 {source="MONDO:equivalentTo"} xref: OMIM:229300 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: Orphanet:95 {source="MONDO:equivalentTo"} @@ -453463,7 +473568,7 @@ is_obsolete: true [Term] id: MONDO:0100344 name: Bartter disease type 1 -subset: gard_rare +subset: gard_rare {source="GARD:22482"} subset: ordo_clinical_subtype {source="Orphanet:93604"} synonym: "antenatal Bartter syndrome" RELATED [Orphanet:93604] synonym: "antenatal Bartter syndrome type 1" RELATED [GARD:0000830] @@ -453486,6 +473591,7 @@ synonym: "hypokalemic alkalosis with hypercalciuria antenatal 1" RELATED [GARD:0 synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM:601678] synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110142 {source="MONDO:equivalentTo"} +xref: GARD:22482 {source="Orphanet:620217"} xref: ICD10CM:E26.8 {source="Orphanet:93604/attributed", source="Orphanet:93604/ntbt", source="DOID:0110142", source="Orphanet:93604"} xref: MESH:C537652 {source="MONDO:equivalentTo"} xref: OMIM:601678 {source="Orphanet:93604/e", source="MONDO:equivalentTo", source="GARD:0000830", source="DOID:0110142", source="Orphanet:93604"} @@ -453544,7 +473650,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100347 name: carcinoid syndrome -subset: gard_rare {source="GARD:0005994"} +subset: gard_rare {source="GARD:5994"} subset: ordo_clinical_syndrome {source="Orphanet:100093"} synonym: "carcinoid syndrome" EXACT [MONDO:0006689, MONDO:0007262] synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994] @@ -453553,6 +473659,7 @@ synonym: "carcinoid tumour syndrome" RELATED OMO:0003005 [] synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093] xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"} xref: EFO:1000852 {source="MONDO:equivalentTo"} +xref: GARD:5994 {source="Orphanet:100093"} xref: ICD10CM:E34.0 {source="Orphanet:100093/e", source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093"} xref: ICD9:259.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000852"} xref: MedDRA:10007270 {source="EFO:1000852"} @@ -453575,8 +473682,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5994/carcino id: MONDO:0100348 name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619091] +subset: gard_rare {source="GARD:18534"} synonym: "NEDMILG, AR" EXACT ABBREVIATION [OMIM:619091] synonym: "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [OMIM:619091, OMIM:genemap2] +xref: GARD:18534 {source="OMIM:619091"} xref: OMIM:619091 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:619091"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -453590,6 +473699,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100349 name: COACH syndrome def: "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." [PMID:2929661] +subset: gard_rare {source="GARD:1410"} synonym: "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" RELATED [GARD:0001410] synonym: "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" EXACT [Orphanet:1454] synonym: "gentile syndrome" EXACT [Orphanet:1454] @@ -453597,6 +473707,7 @@ synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [Orphanet:145 synonym: "Joubert syndrome with hepatic defect" EXACT [Orphanet:1454] synonym: "JS-H" EXACT [Orphanet:1454] xref: DOID:0111589 {source="MONDO:equivalentTo"} +xref: GARD:1410 {source="Orphanet:1454"} xref: MESH:C536430 {source="MONDO:equivalentTo"} xref: Orphanet:1454 {source="MONDO:equivalentTo"} xref: SCTID:721847002 {source="MONDO:equivalentTo"} @@ -453611,11 +473722,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100350 name: neuronopathy, distal hereditary motor, type 5 +subset: gard_rare {source="GARD:16955"} synonym: "dHMN5" BROAD [Orphanet:139536] synonym: "distal hereditary motor neuropathy type V" EXACT [Orphanet:139536] synonym: "distal HMN V" EXACT [Orphanet:139536] synonym: "distal spinal muscular atrophy type 5" EXACT [Orphanet:139536] xref: DOID:0111203 {source="MONDO:equivalentTo"} +xref: GARD:16955 {source="Orphanet:139536"} xref: MESH:C563443 {source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="MONDO:equivalentTo"} is_a: MONDO:0015362 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, autosomal dominant @@ -453675,6 +473788,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100354 name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +subset: gard_rare {source="GARD:15195", source="GARD:3442"} subset: ordo_malformation_syndrome {source="Orphanet:2241"} synonym: "Berdon syndrome" EXACT [DOID:0060610, OMIM:249210, Orphanet:2241] synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" BROAD [GARD:0003442] @@ -453687,6 +473801,8 @@ synonym: "MMIH syndrome" BROAD [NCIT:C98982] synonym: "MMIHS" BROAD ABBREVIATION [Orphanet:2241] synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610] xref: DOID:0060610 {source="MONDO:equivalentTo"} +xref: GARD:15195 {source="OMIM:249210"} +xref: GARD:3442 {source="Orphanet:2241"} xref: ICD10CM:Q43.8 {source="DOID:0060610", source="Orphanet:2241/attributed", source="Orphanet:2241/ntbt", source="Orphanet:2241"} xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: NCIT:C98982 {source="MONDO:equivalentTo"} @@ -453822,7 +473938,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100367 name: port-wine nevi-mega cisterna magna-hydrocephalus syndrome def: "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979." [Orphanet:2703] +subset: gard_rare {source="GARD:4014"} synonym: "nova syndrome" EXACT [Orphanet:2703] +xref: GARD:4014 {source="Orphanet:2703"} xref: Orphanet:2703 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:2703"} ! developmental defect during embryogenesis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -454622,6 +474740,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100429 name: intrahepatic cholestasis of pregnancy def: "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." [Orphanet:69665] +subset: gard_rare {source="GARD:9804"} synonym: "cholestasis, intrahepatic of pregnancy" RELATED [GARD:0009804] synonym: "familial intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804] synonym: "familial recurrent intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804] @@ -454634,6 +474753,7 @@ synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [DOID:0070227, synonym: "RICP" RELATED ABBREVIATION [GARD:0009804] xref: DOID:0070227 {source="MONDO:equivalentTo"} xref: EFO:0009048 {source="MONDO:equivalentTo"} +xref: GARD:9804 {source="Orphanet:69665"} xref: MESH:C535932 {source="MONDO:equivalentTo", source="DOID:0070227"} xref: Orphanet:69665 {source="MONDO:equivalentTo", source="DOID:0070227"} is_a: MONDO:0019072 {source="Orphanet:69665"} ! intrahepatic cholestasis @@ -454965,6 +475085,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100450 name: CAPN5-related vitreoretinopathy def: "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." [https://clinicalgenome.org/affiliation/40072/] +subset: gard_rare {source="GARD:17497"} subset: ordo_disease {source="Orphanet:329211"} synonym: "ADNIV" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:329211] synonym: "autosomal dominant neovascular inflammatory vitreoretinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/, MONDO:0008664] @@ -454976,6 +475097,7 @@ synonym: "vitreoretinopathy, neovascular inflammatory, autosomal dominant" EXACT synonym: "VRNI" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:193235] xref: DOID:9719 {source="MONDO:equivalentTo", source="EFO:1001129"} xref: EFO:1001129 {source="MONDO:mondoIsNarrowerThanSource"} +xref: GARD:17497 {source="Orphanet:329211"} xref: ICD10CM:H35.2 {source="Orphanet:329211/attributed", source="Orphanet:329211/ntbt", source="Orphanet:329211"} xref: ICD9:362.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057896 {source="EFO:1001129"} @@ -455112,7 +475234,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100457 name: achalasia, familial esophageal def: "An instance of achalsia that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] +subset: gard_rare {source="GARD:455"} synonym: "achalasia, familial esophageal" EXACT [OMIM:200400] +xref: GARD:455 {source="OMIM:200400"} xref: MESH:C536011 {source="MONDO:equivalentTo"} xref: OMIM:200400 {source="MONDO:equivalentTo"} xref: UMLS:C1860213 {source="MONDO:equivalentTo"} @@ -455182,10 +475306,12 @@ replaced_by: MONDO:0800030 id: MONDO:0100462 name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans def: "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." [Orphanet:251262] +subset: gard_rare {source="GARD:4133"} synonym: "OD" EXACT ABBREVIATION [OMIM:165800] synonym: "osteochondritis dissecans and short stature" EXACT [Orphanet:251262] synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" EXACT [OMIM:165800] synonym: "SSOAOD" EXACT ABBREVIATION [OMIM:165800] +xref: GARD:4133 {source="Orphanet:251262"} xref: OMIM:165800 {source="MONDO:equivalentTo"} xref: Orphanet:251262 {source="MONDO:equivalentTo"} is_a: MONDO:0018383 {source="Orphanet:251262", source="https://orcid.org/0000-0001-5208-3432"} ! osteonecrosis of genetic origin @@ -455221,10 +475347,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100466 name: butterfly-shaped pigment dystrophy def: "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99001] +subset: gard_rare {source="GARD:16890"} subset: ordo_disease {source="Orphanet:99001"} synonym: "butterfly-shaped pattern dystrophy" EXACT [Orphanet:99001] synonym: "butterfly-shaped pigment dystrophy" EXACT [Orphanet:99001] synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [Orphanet:99001] +xref: GARD:16890 {source="Orphanet:99001"} xref: Orphanet:99001 {source="MONDO:equivalentTo"} xref: SCTID:725590001 {source="MONDO:equivalentTo"} xref: UMLS:C4511237 {source="MONDO:equivalentTo"} @@ -455235,6 +475363,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100467 name: preeclampsia/eclampsia 1 +subset: gard_rare {source="GARD:18389"} synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800] synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] synonym: "PEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:189800] @@ -455242,6 +475371,7 @@ synonym: "PREECLAMPSIA/eclampsia 1" EXACT [MONDO:Lexical, OMIM:189800] synonym: "PREG1" EXACT [OMIM:189800] synonym: "toxaemia of pregnancy" BROAD OMO:0003005 [] synonym: "toxemia of pregnancy" BROAD [OMIM:189800] +xref: GARD:18389 {source="OMIM:189800"} xref: OMIM:189800 {source="MONDO:equivalentTo"} is_a: MONDO:0005081 {source="OMIM:189800"} ! preeclampsia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -455392,8 +475522,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100480 name: autoimmune primary adrenal insufficiency def: "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands." [NCIT:C113814] +subset: gard_rare {source="GARD:5740"} synonym: "autoimmune Addison's disease" EXACT [NCIT:C113814] synonym: "autoimmune adrenalitis" RELATED [NCIT:C113814] +xref: GARD:5740 {source="Orphanet:85138"} xref: NCIT:C113814 {source="MONDO:equivalentTo"} xref: Orphanet:85138 {source="MONDO:equivalentTo"} is_a: MONDO:0015129 {source="NCIT:C113814"} ! chronic primary adrenal insufficiency @@ -455503,11 +475635,13 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100490 name: breasts and/or nipples, aplasia or hypoplasia of, 1 +subset: gard_rare {source="GARD:15045"} synonym: "amastia" RELATED [OMIM:113700] synonym: "amazia" RELATED [OMIM:113700] synonym: "athelia" RELATED [MESH:C535565, OMIM:113700] synonym: "BNAH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113700] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" EXACT [MONDO:Lexical, OMIM:113700] +xref: GARD:15045 {source="OMIM:113700"} xref: OMIM:113700 {source="MONDO:equivalentTo"} is_a: MONDO:0015855 {source="OMIM:113700"} ! isolated congenital breast hypoplasia/aplasia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -455677,9 +475811,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100508 name: salivary gland type cancer of the breast def: "A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." [https://orcid.org/0000-0001-5208-3432, Orphanet:213557] -subset: gard_rare {source="GARD:0012774"} +subset: gard_rare {source="GARD:12774"} subset: ordo_disease {source="Orphanet:213557"} synonym: "salivary gland type carcinoma of the breast" EXACT [Orphanet:213557] +xref: GARD:12774 {source="Orphanet:213557"} xref: ICD10CM:C50.0 {source="Orphanet:213557/btnt", source="Orphanet:213557"} xref: ICD10CM:C50.1 {source="Orphanet:213557/btnt", source="Orphanet:213557"} xref: ICD10CM:C50.2 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"} @@ -455733,9 +475868,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100512 name: mitochondrial DNA depletion syndrome, hepatocerebral form subset: disease_grouping +subset: gard_rare {source="GARD:20769"} subset: ordo_group_of_disorders {source="Orphanet:254871"} synonym: "deoxyguanosine kinase deficiency" EXACT [Orphanet:254871] synonym: "mtDNA depletion syndrome, hepatocerebral form" EXACT [Orphanet:254871] +xref: GARD:20769 {source="Orphanet:254871"} xref: MESH:C580039 {source="MONDO:equivalentTo"} xref: Orphanet:254871 {source="MONDO:equivalentTo"} xref: UMLS:C3711385 {source="Orphanet:254871", source="MONDO:equivalentTo"} @@ -455843,6 +475980,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100522 name: hypotrichosis 4 +subset: gard_rare {source="GARD:15078"} synonym: "hypotrichosis 4" EXACT [MONDO:0007806, MONDO:Lexical, OMIM:146550] synonym: "hypotrichosis type 4" EXACT [DOID:0110701, MONDORULE:1, OMIM:146550] synonym: "hypotrichosis, Marie Unna type, 1" EXACT [DOID:0110701, OMIM:146550] @@ -455850,6 +475988,7 @@ synonym: "HYPT4" EXACT ABBREVIATION [DOID:0110701, MONDO:Lexical, OMIM:146550] synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [DOID:0110701, OMIM:146550] synonym: "MUHH1" EXACT ABBREVIATION [DOID:0110701] xref: DOID:0110701 {source="MONDO:equivalentTo"} +xref: GARD:15078 {source="OMIM:146550"} xref: MESH:C567718 {source="MONDO:equivalentTo"} xref: OMIM:146550 {source="MONDO:equivalentTo"} xref: UMLS:C2750815 {source="OMIM:146550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -455896,7 +476035,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/66 id: MONDO:0100527 name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type def: "An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies." [Orphanet:2204] +subset: gard_rare {source="GARD:2022"} synonym: "Kozlowski-Tsuruta syndrome" EXACT [Orphanet:2204] +xref: GARD:2022 {source="Orphanet:2204"} xref: Orphanet:2204 {source="MONDO:equivalentTo"} is_a: MONDO:0016357 {source="Orphanet:2204", source="https://orcid.org/0000-0001-5208-3432"} ! dysplastic cortical hyperostosis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -455905,11 +476046,13 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100528 name: Hao-Fountain syndrome due to 16p13.2 microdeletion def: "A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors." [Orphanet:500055] +subset: gard_rare {source="GARD:17920"} synonym: "16p13.2 microdeletion syndrome" EXACT [Orphanet:500055] synonym: "chromosome 16P13.2 deletion syndrome" EXACT [OMIM:616863] synonym: "chromosome 16p13.2 deletion syndrome" EXACT [OMIM:616863] synonym: "Del(16)(p13.2)" EXACT [Orphanet:500055] synonym: "monosomy 16p13.2" EXACT [Orphanet:500055] +xref: GARD:17920 {source="Orphanet:500055"} xref: OMIM:616863 {source="MONDO:includedEntryInOMIM"} xref: Orphanet:500055 {source="MONDO:equivalentTo"} is_a: MONDO:0014805 {source="Orphanet:500055", source="https://orcid.org/0000-0001-5208-3432"} ! Hao-Fountain syndrome @@ -456268,6 +476411,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-546 id: MONDO:0600030 name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) def: "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." [NCIT:C80347] +subset: gard_rare {source="GARD:22348"} synonym: "B acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] synonym: "B lymphoblastic leukaemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT OMO:0003005 [] @@ -456277,6 +476421,7 @@ synonym: "B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3 synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" EXACT [Orphanet:585956] synonym: "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1" EXACT [DOID:0080649] xref: DOID:0080649 {source="NCIT:C80347", source="MONDO:equivalentTo"} +xref: GARD:22348 {source="Orphanet:585956"} xref: ICD10CM:C91.0 {source="Orphanet:585956"} xref: NCIT:C80347 {source="MONDO:equivalentTo"} xref: Orphanet:585956 {source="MONDO:equivalentTo"} @@ -456673,9 +476818,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0700041 name: neuroblastoma, susceptibility to, 2 +subset: gard_rare {source="GARD:15603"} synonym: "NBLST2" EXACT ABBREVIATION [OMIM:613013] synonym: "neuroblastoma, susceptibility to, type 2" EXACT [OMIM:613013] synonym: "susceptibility to neuroblastoma 2" EXACT [OMIM:613013] +xref: GARD:15603 {source="OMIM:613013"} xref: OMIM:613013 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:613013"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -456689,6 +476836,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 id: MONDO:0700042 name: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency def: "A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/susceptibility_by_gene] +subset: gard_rare {source="GARD:12915"} subset: predisposition synonym: "IKBKG X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG" EXACT [Orphanet:319612] @@ -456696,6 +476844,7 @@ synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKB synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [Orphanet:319612] synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [Orphanet:319612] synonym: "X-linked MSMD due to NEMO deficiency" EXACT [Orphanet:319612] +xref: GARD:12915 {source="Orphanet:319612"} xref: MESH:C564468 {source="MONDO:equivalentTo"} xref: Orphanet:319612 {source="MONDO:equivalentTo"} xref: UMLS:C1845073 {source="MONDO:equivalentTo"} @@ -457253,7 +477402,9 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 id: MONDO:0700087 name: Usher syndrome type 1B def: "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:5436"} synonym: "Usher syndrome, type 1B" EXACT [OMIM:276900, OMIM:genemap2] +xref: GARD:5436 {source="OMIM:276900"} xref: MESH:C536485 {source="MONDO:equivalentTo"} xref: OMIM:276900 {source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 @@ -457266,10 +477417,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0700088 name: paroxysmal nonkinesigenic dyskinesia def: "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." [Orphanet:98810] +subset: gard_rare {source="GARD:8722"} synonym: "DYT-MR-1" RELATED [GARD:0008722] synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810] synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722] synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810] +xref: GARD:8722 {source="Orphanet:98810"} xref: Orphanet:98810 {source="MONDO:equivalentTo"} is_a: MONDO:0015427 {source="Orphanet:98810"} ! paroxysmal dyskinesia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -457573,7 +477726,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0700117 name: SLC6A3-related dopamine transporter deficiency syndrome def: "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." [https://clinicalgenome.org/affiliation/40097/, PMID:21112253, PMID:24613933, PMID:28749637] -subset: gard_rare {source="GARD:0010484"} synonym: "Dopamine transporter deficiency syndrome" EXACT [GARD:0010484] synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484] is_a: MONDO:0005395 {source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder @@ -458628,6 +478780,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0700220 name: disease related to transplantation def: "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615] +subset: gard_rare {source="GARD:21259"} +xref: GARD:21259 {source="Orphanet:306644"} xref: Orphanet:306644 {source="MONDO:equivalentTo"} xref: UMLS:C1998172 {source="MONDO:equivalentTo"} is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-7151-1615"} ! human disease @@ -458716,6 +478870,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800025 name: Teebi hypertelorism syndrome 1 def: "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." [https://orcid.org/0000-0001-5208-3432, Orphanet:1519] +subset: gard_rare {source="GARD:957"} subset: ordo_malformation_syndrome {source="Orphanet:1519"} synonym: "Brachycephalofrontonasal dysplasia" EXACT [OMIM:145420, Orphanet:1519] synonym: "craniofrontonasal dysplasia, Teebi type" EXACT [Orphanet:1519] @@ -458723,6 +478878,7 @@ synonym: "hypertelorism, Teebi type" BROAD [OMIM:145420] synonym: "Teebi hypertelorism syndrome" BROAD [Orphanet:1519] synonym: "Teebi syndrome" BROAD [Orphanet:1519] xref: DOID:0080698 {source="MONDO:equivalentTo"} +xref: GARD:957 {source="Orphanet:1519"} xref: ICD10CM:Q87.0 {source="Orphanet:1519/attributed", source="Orphanet:1519/ntbt", source="Orphanet:1519"} xref: OMIM:145420 {source="Orphanet:1519/e", source="MONDO:equivalentTo", source="Orphanet:1519"} xref: Orphanet:1519 {source="MONDO:equivalentTo", source="OMIM:145420"} @@ -458740,7 +478896,7 @@ id: MONDO:0800026 name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease def: "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." [Orphanet:661] subset: clingen -subset: gard_rare {source="GARD:0008535"} +subset: gard_rare {source="GARD:8535"} subset: ordo_disease {source="Orphanet:661"} synonym: "autonomic control, congenital failure of" EXACT [OMIM:209880] synonym: "CCHS" EXACT ABBREVIATION [DOID:0060731, MONDO:Lexical, OMIM:209880, Orphanet:661] @@ -458762,6 +478918,7 @@ synonym: "Ondine's curse (formerly)" RELATED [GARD:0008535] synonym: "Ondine-Hirschsprung disease" RELATED [OMIM:209880] synonym: "primary alveolar hypoventilation" RELATED [GARD:0008535] xref: DOID:0060731 {source="MONDO:equivalentTo"} +xref: GARD:8535 {source="Orphanet:661"} xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="DOID:0060731", source="Orphanet:661/ntbt", source="Orphanet:661/inclusion", source="Orphanet:661"} xref: MedDRA:10007982 {source="Orphanet:661/e", source="Orphanet:661"} xref: MedDRA:10066131 {source="Orphanet:661/e", source="Orphanet:661"} @@ -458787,6 +478944,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8535/congeni id: MONDO:0800027 name: leukoencephalopathy, diffuse hereditary, with spheroids 1 def: "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." [https://orcid.org/0000-0001-5208-3432, Orphanet:313808] +subset: gard_rare {source="GARD:10981"} subset: ordo_disease {source="Orphanet:313808"} synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" RELATED [GARD:0010981] synonym: "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [Orphanet:313808] @@ -458810,6 +478968,7 @@ synonym: "pigmentary orthochromatic leukodystrophy" EXACT [Orphanet:313808] synonym: "POLD" EXACT ABBREVIATION [Orphanet:313808] synonym: "subcortical gliosis of Neumann" EXACT [OMIM:221820, Orphanet:313808] xref: DOID:0080523 {source="MONDO:equivalentTo"} +xref: GARD:10981 {source="Orphanet:313808"} xref: ICD10CM:E75.2 {source="Orphanet:313808/attributed", source="Orphanet:313808/ntbt", source="Orphanet:313808"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580150 {source="MONDO:equivalentTo"} @@ -458830,10 +478989,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-831 id: MONDO:0800028 name: dyskinesia with orofacial involvement, autosomal dominant def: "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." [https://orcid.org/0000-0001-5208-3432, Orphanet:324588] +subset: gard_rare {source="GARD:12722"} subset: ordo_disease {source="Orphanet:324588"} synonym: "ADCY5-related dyskinesia" RELATED [GARD:0012722] synonym: "dyskinesia, familial, with facial myokymia" EXACT [MONDO:Lexical, OMIM:606703] synonym: "FDFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606703, Orphanet:324588] +xref: GARD:12722 {source="Orphanet:324588"} xref: ICD10CM:G51.4 {source="Orphanet:324588/attributed", source="Orphanet:324588/ntbt", source="MONDO:relatedTo", source="Orphanet:324588"} xref: MESH:C564676 {source="MONDO:equivalentTo"} xref: OMIM:606703 {source="Orphanet:324588", source="MONDO:equivalentTo", source="Orphanet:324588/e"} @@ -458849,7 +479010,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0800029 name: interstitial lung disease 2 def: "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." [https://orcid.org/0000-0001-5208-3432, Orphanet:2032] -subset: gard_rare {source="GARD:0008609"} +subset: gard_rare {source="GARD:8609"} subset: ordo_disease {source="Orphanet:2032"} synonym: "CFA" EXACT ABBREVIATION [Orphanet:2032] synonym: "cryptogenic fibrosing alveolitis" EXACT [DOID:0050156, Orphanet:2032] @@ -458867,6 +479028,7 @@ synonym: "UIP" EXACT ABBREVIATION [Orphanet:2032] synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032] xref: DOID:0050156 {source="MONDO:equivalentTo", source="EFO:0000768"} xref: EFO:0000768 {source="DOID:0050156", source="MONDO:equivalentTo"} +xref: GARD:8609 {source="Orphanet:2032"} xref: ICD10CM:J84.1 {source="Orphanet:2032/ntbt", source="Orphanet:2032"} xref: ICD10CM:J84.112 {source="DOID:0050156", source="MONDO:equivalentTo"} xref: ICD9:516.31 {source="DOID:0050156", source="EFO:0000768"} @@ -458899,6 +479061,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8609/idiopat id: MONDO:0800030 name: gastrointestinal defects and immunodeficiency syndrome 1 def: "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." [Orphanet:436252] +subset: gard_rare {source="GARD:17731"} synonym: "CID-MIA/early-onset IBD" EXACT [Orphanet:436252] synonym: "combined immunodeficiency-enteropathy spectrum" EXACT [Orphanet:436252] synonym: "familial intestinal polyatresia syndrome" EXACT [OMIM:243150] @@ -458906,6 +479069,7 @@ synonym: "FIPA" EXACT ABBREVIATION [OMIM:243150] synonym: "intestinal atresia, multiple" BROAD [OMIM:243150] synonym: "MINAT" EXACT ABBREVIATION [OMIM:243150] synonym: "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" EXACT [OMIM:243150] +xref: GARD:17731 {source="Orphanet:436252"} xref: OMIM:243150 {source="MONDO:equivalentTo"} xref: Orphanet:436252 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -459028,6 +479192,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800042 name: restrictive dermopathy 1 def: "A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." [https://orcid.org/0000-0001-5208-3432, Orphanet:1662] +subset: gard_rare {source="GARD:1516"} subset: ordo_disease {source="Orphanet:1662"} synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [OMIM:275210] synonym: "foetal hypokinesia sequence due to restrictive dermopathy" EXACT OMO:0003005 [] @@ -459039,6 +479204,7 @@ synonym: "restrictive dermopathy, lethal" RELATED [OMIM:275210] synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662] synonym: "tight skin contracture syndrome, lethal" EXACT [OMIM:275210] xref: DOID:0070369 {source="MONDO:equivalentTo"} +xref: GARD:1516 {source="Orphanet:1662"} xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="Orphanet:1662/attributed", source="Orphanet:1662/ntbt", source="DOID:0060762"} xref: MESH:C536920 {source="MONDO:equivalentTo"} xref: OMIM:275210 {source="Orphanet:1662", source="DOID:0060762", source="MONDO:equivalentTo", source="Orphanet:1662/e"} @@ -459056,6 +479222,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800043 name: Stüve-Wiedemann syndrome 1 def: "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." [Orphanet:3206] +subset: gard_rare {source="GARD:5045"} subset: ordo_malformation_syndrome {source="Orphanet:3206"} synonym: "neonatal Schwartz-Jampel syndrome" EXACT [Orphanet:3206] synonym: "neonatal Schwartz-Jampel syndrome type 2" RELATED [GARD:0005045] @@ -459074,6 +479241,7 @@ synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206] synonym: "Stüve-Wiedemann syndrome" BROAD [Orphanet:3206] synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206] synonym: "SWS" BROAD ABBREVIATION [OMIM:601559] +xref: GARD:5045 {source="Orphanet:3206"} xref: ICD10CM:Q78.8 {source="Orphanet:3206", source="Orphanet:3206/attributed", source="Orphanet:3206/ntbt"} xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"} xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"} @@ -459096,6 +479264,7 @@ id: MONDO:0800044 name: congenital disorder of deglycosylation 1 def: "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." [NCIT:C126746] subset: clingen +subset: gard_rare {source="GARD:12315"} subset: ordo_disease {source="Orphanet:404454"} synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [Orphanet:404454] synonym: "CDDG" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615273] @@ -459113,6 +479282,7 @@ synonym: "NGLY1 deficiency" EXACT [Orphanet:404454] synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454] synonym: "NGLY1-deficiency" EXACT CLINGEN_PREFERRED [] xref: DOID:0060728 {source="MONDO:equivalentTo"} +xref: GARD:12315 {source="Orphanet:404454"} xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"} xref: NCIT:C126746 {source="MONDO:equivalentTo"} xref: OMIM:615273 {source="Orphanet:404454/e", source="MONDO:equivalentTo", source="Orphanet:404454", source="DOID:0060728"} @@ -459135,6 +479305,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800045 name: autoinflammatory syndrome, familial, Behcet-like 1 +subset: gard_rare {source="GARD:17848"} subset: ordo_disease {source="Orphanet:476102"} synonym: "AISBL" BROAD ABBREVIATION [OMIM:616744] synonym: "autoinflammatory syndrome, familial, Behcet-like" BROAD [OMIM:616744] @@ -459144,6 +479315,7 @@ synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet synonym: "hereditary paediatric Behçet-like disease" EXACT OMO:0003005 [] synonym: "hereditary pediatric Behçet-like disease" EXACT [Orphanet:476102] xref: DOID:0080944 {source="MONDO:equivalentTo"} +xref: GARD:17848 {source="Orphanet:476102"} xref: OMIM:616744 {source="Orphanet:476102", source="MONDO:equivalentTo"} xref: Orphanet:476102 {source="MONDO:equivalentTo"} xref: UMLS:C4225218 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -459160,10 +479332,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800046 name: thyroid hormone metabolism, abnormal 1 def: "A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." [https://orcid.org/0000-0001-5208-3432, Orphanet:171706] +subset: gard_rare {source="GARD:17068"} subset: ordo_disease {source="Orphanet:171706"} synonym: "short stature-delayed bone age due to thyroid hormone metabolism deficiency" EXACT [Orphanet:171706] synonym: "THMA1" EXACT ABBREVIATION [OMIM:609698] synonym: "thyroid hormone metabolism, abnormal" BROAD [OMIM:609698] +xref: GARD:17068 {source="Orphanet:171706"} xref: ICD10CM:E03.1 {source="Orphanet:171706/attributed", source="Orphanet:171706/ntbt", source="Orphanet:171706"} xref: MESH:C566454 {source="MONDO:equivalentTo"} xref: OMIM:609698 {source="Orphanet:171706", source="MONDO:equivalentTo", source="Orphanet:171706/e"} @@ -459177,12 +479351,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0800047 name: macrothrombocytopenia, isolated, 1, autosomal dominant def: "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:18271"} synonym: "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" RELATED [OMIM:613112] synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-related" EXACT [OMIM:613112] synonym: "MACTHC1" EXACT ABBREVIATION [OMIM:613112] synonym: "TUBB1 autosomal dominant macrothrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090102 {source="MONDO:equivalentTo"} +xref: GARD:18271 {source="OMIM:613112"} xref: ICD10CM:D69.4 {source="DOID:0090102"} xref: MESH:C567747 {source="MONDO:equivalentTo"} xref: OMIM:613112 {source="DOID:0090102", source="MONDO:equivalentTo"} @@ -459245,9 +479421,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800084 name: obsolete primary bone dysplasia with increased bone density +subset: gard_rare {source="GARD:19200"} synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444] +xref: GARD:19200 {source="MONDO:obsoleteEquivalent", source="Orphanet:93444"} xref: Orphanet:93444 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN043667 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -459260,6 +479438,8 @@ is_obsolete: true [Term] id: MONDO:0800085 name: obsolete dysostosis with predominant craniofacial involvement +subset: gard_rare {source="GARD:19207"} +xref: GARD:19207 {source="MONDO:obsoleteEquivalent", source="Orphanet:93453"} xref: Orphanet:93453 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459271,8 +479451,10 @@ is_obsolete: true [Term] id: MONDO:0800086 name: obsolete primary bone dysplasia with multiple joint dislocations +subset: gard_rare {source="GARD:19198"} synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441] synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441] +xref: GARD:19198 {source="Orphanet:93441", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459284,6 +479466,8 @@ is_obsolete: true [Term] id: MONDO:0800087 name: obsolete type 11 collagen-related bone disorder +subset: gard_rare {source="GARD:19187"} +xref: GARD:19187 {source="MONDO:obsoleteEquivalent", source="Orphanet:93422"} xref: Orphanet:93422 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459295,8 +479479,10 @@ is_obsolete: true [Term] id: MONDO:0800088 name: lysosomal storage disease with skeletal involvement +subset: gard_rare {source="GARD:19203"} subset: ordo_group_of_disorders {source="Orphanet:93448"} synonym: "dysostosis multiplex" EXACT [Orphanet:93448] +xref: GARD:19203 {source="Orphanet:93448"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93448 {source="MONDO:equivalentTo"} xref: SCTID:254069004 {source="MONDO:equivalentTo"} @@ -459307,10 +479493,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800089 name: obsolete primary bone dysplasia with disorganized development of skeletal components +subset: gard_rare {source="GARD:19205"} synonym: "primary osteodysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] +xref: GARD:19205 {source="Orphanet:93450", source="MONDO:obsoleteEquivalent"} xref: Orphanet:93450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459322,6 +479510,8 @@ is_obsolete: true [Term] id: MONDO:0800090 name: obsolete ectrodactyly with and without other manifestations +subset: gard_rare {source="GARD:22030"} +xref: GARD:22030 {source="Orphanet:498477", source="MONDO:obsoleteEquivalent"} xref: Orphanet:498477 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459333,6 +479523,8 @@ is_obsolete: true [Term] id: MONDO:0800091 name: obsolete overgrowth or tall stature syndrome with skeletal involvement +subset: gard_rare {source="GARD:22021"} +xref: GARD:22021 {source="MONDO:obsoleteEquivalent", source="Orphanet:498448"} xref: Orphanet:498448 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459344,7 +479536,9 @@ is_obsolete: true [Term] id: MONDO:0800092 name: obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy +subset: gard_rare {source="GARD:22020"} synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [Orphanet:498445] +xref: GARD:22020 {source="MONDO:obsoleteEquivalent", source="Orphanet:498445"} xref: Orphanet:498445 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459356,6 +479550,8 @@ is_obsolete: true [Term] id: MONDO:0800093 name: obsolete dysostosis with brachydactyly without extraskeletal manifestations +subset: gard_rare {source="GARD:22022"} +xref: GARD:22022 {source="MONDO:obsoleteEquivalent", source="Orphanet:498451"} xref: Orphanet:498451 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459367,6 +479563,8 @@ is_obsolete: true [Term] id: MONDO:0800094 name: obsolete dysostosis with brachydactyly with extraskeletal manifestations +subset: gard_rare {source="GARD:22023"} +xref: GARD:22023 {source="Orphanet:498454", source="MONDO:obsoleteEquivalent"} xref: Orphanet:498454 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -459378,6 +479576,8 @@ is_obsolete: true [Term] id: MONDO:0800095 name: obsolete syndrome with synostosis or other joint formation defect +subset: gard_rare {source="GARD:19212"} +xref: GARD:19212 {source="MONDO:obsoleteEquivalent", source="Orphanet:93459"} xref: Orphanet:93459 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206620 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -459475,7 +479675,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800103 name: COACH syndrome 1 def: "Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene." [MONDO:patterns/OMIM_disease_series_by_gene] +subset: gard_rare {source="GARD:15153"} synonym: "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT [OMIM:216360] +xref: GARD:15153 {source="OMIM:216360"} xref: ICD10CM:Q04.3 {source="Orphanet:1454/attributed", source="Orphanet:1454/ntbt", source="Orphanet:1454"} xref: OMIM:216360 {source="Orphanet:1454", source="MONDO:equivalentTo", source="Orphanet:1454/e"} is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome @@ -459915,7 +480117,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0800167 name: Knobloch syndrome 1 -subset: gard_rare {source="GARD:0000380"} +subset: gard_rare {source="GARD:380"} subset: ordo_malformation_syndrome {source="Orphanet:1571"} synonym: "KNO" RELATED [OMIM:267750] synonym: "KNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:267750] @@ -459926,6 +480128,7 @@ synonym: "Knobloch-Layer syndrome" EXACT [Orphanet:1571] synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380] synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750] synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571] +xref: GARD:380 {source="Orphanet:1571"} xref: ICD10CM:Q15.8 {source="Orphanet:1571", source="Orphanet:1571/attributed", source="Orphanet:1571/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"} @@ -459954,6 +480157,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800175 name: cardiogenic shock def: "A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels." [Orphanet:97292] +subset: gard_rare {source="GARD:19362"} +xref: GARD:19362 {source="Orphanet:97292"} xref: ICD10CM:R57.0 {source="MONDO:equivalentTo"} xref: MedDRA:10007625 {source="Orphanet:97292"} xref: Orphanet:97292 {source="MONDO:equivalentTo"} @@ -460045,7 +480250,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800187 name: immunodeficiency 83, susceptibility to viral infections def: "An inherited susceptibility or predisposition to developing viral infections." [MONDO:patterns/inherited_susceptibility] +subset: gard_rare {source="GARD:15600"} synonym: "IMD83" EXACT ABBREVIATION [OMIM:613002] +xref: GARD:15600 {source="OMIM:613002"} xref: OMIM:613002 {source="MONDO:equivalentTo"} is_a: MONDO:0800174 {source="OMIMPS:610551"} ! encephalitis, acute, infection-induced, susceptibility to property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -461354,7 +481561,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800436 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 def: "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene] -subset: gard_rare +subset: gard_rare {source="GARD:1210"} subset: ordo_malformation_syndrome {source="Orphanet:1394"} synonym: "cerebro facio thoracic dysplasia" RELATED [GARD:0001210] synonym: "cerebrofaciothoracic dysplasia" EXACT CLINGEN_PREFERRED [GARD:0001210, OMIM:213980] @@ -461363,6 +481570,7 @@ synonym: "CFSMR1" EXACT [MONDO:Lexical, OMIM:213980] synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210] synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394] xref: DOID:0081124 {source="MONDO:equivalentTo"} +xref: GARD:1210 {source="Orphanet:1394"} xref: ICD10CM:Q87.5 {source="Orphanet:1394/attributed", source="Orphanet:1394/ntbt", source="Orphanet:1394"} xref: MESH:C565862 {source="MONDO:equivalentTo"} xref: OMIM:213980 {source="GARD:0001210", source="Orphanet:1394/e", source="MONDO:equivalentTo", source="Orphanet:1394"} @@ -461381,7 +481589,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1210/cerebro id: MONDO:0800437 name: Carey-Fineman-Ziter syndrome 1 def: "A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." [Orphanet:1358] -subset: gard_rare {source="GARD:0003889"} subset: ordo_malformation_syndrome {source="Orphanet:1358"} synonym: "Carey Fineman Ziter syndrome" RELATED [GARD:0003889] synonym: "Carey-Fineman-Ziter syndrome 1" EXACT [OMIM:254940, Orphanet:1358] @@ -461412,6 +481619,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3889/carey-f id: MONDO:0800438 name: developmental delay with short stature, dysmorphic facial features, and sparse hair 1 def: "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:17814"} subset: ordo_malformation_syndrome {source="Orphanet:459061"} synonym: "DEDSSH1" EXACT ABBREVIATION [OMIM:616901] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" BROAD [OMIM:616901, OMIM:genemap2] @@ -461419,6 +481627,7 @@ synonym: "developmental delay with short stature, dysmorphic features, and spars synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" BROAD [Orphanet:459061] synonym: "diphtamide deficiency syndrome" EXACT [OMIM:616901] synonym: "Loucks-Innes syndrome" RELATED [OMIM:616901] +xref: GARD:17814 {source="Orphanet:459061"} xref: OMIM:616901 {source="Orphanet:459061", source="MONDO:equivalentTo", source="Orphanet:459061/e"} xref: Orphanet:459061 {source="MONDO:equivalentTo"} xref: UMLS:C4310801 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -461488,11 +481697,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800445 name: Birt-Hogg-Dube syndrome 1 def: "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:2322"} subset: ordo_malformation_syndrome {source="Orphanet:122"} synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122] synonym: "Hornstein-Knickenberg syndrome" EXACT [OMIM:135150] xref: DOID:0050676 {source="MONDO:equivalentTo"} xref: EFO:1001273 {source="MONDO:equivalentTo"} +xref: GARD:2322 {source="Orphanet:122"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"} xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"} @@ -461511,7 +481722,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800446 name: bleeding diathesis due to thromboxane synthesis deficiency def: "A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction)." [Orphanet:220443] +subset: gard_rare {source="GARD:17132"} subset: ordo_disease {source="Orphanet:220443"} +xref: GARD:17132 {source="Orphanet:220443"} xref: ICD10CM:D69.8 {source="Orphanet:220443/attributed", source="Orphanet:220443/ntbt", source="Orphanet:220443"} xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"} is_a: MONDO:0000009 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited bleeding disorder, platelet-type @@ -461537,6 +481750,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800448 name: leukoencephalopathy with vanishing white matter def: "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect." [Orphanet:135] +subset: gard_rare {source="GARD:231"} subset: ordo_disease {source="Orphanet:135"} synonym: "CACH" EXACT ABBREVIATION [DOID:0060868] synonym: "CACH syndrome" RELATED [Orphanet:135] @@ -461558,7 +481772,7 @@ synonym: "vanishing white matter leukodystrophy" RELATED [DOID:0060868] synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [OMIM:603896] synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603896] xref: DOID:0060868 {source="MONDO:equivalentTo"} -xref: GARD:0000231 {source="MONDO:equivalentTo"} +xref: GARD:231 {source="Orphanet:135"} xref: ICD10CM:E75.2 {source="Orphanet:135/attributed", source="Orphanet:135/ntbt", source="DOID:0060868", source="Orphanet:135"} xref: MESH:C537420 {source="Orphanet:135/e", source="Orphanet:135"} xref: NCIT:C122664 {source="MONDO:equivalentTo"} @@ -461623,12 +481837,16 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0850001 name: congenital neuronal ceroid lipofuscinosis def: "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." [Orphanet:168486] +subset: gard_rare {source="GARD:17031"} +xref: GARD:17031 {source="Orphanet:168486"} xref: Orphanet:168486 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronal ceroid lipofuscinosis [Term] id: MONDO:0850007 name: syndromic lacrimal system disorder +subset: gard_rare {source="GARD:22083"} +xref: GARD:22083 {source="Orphanet:519274"} xref: Orphanet:519274 {source="MONDO:equivalentTo"} is_a: MONDO:0001854 {source="https://orcid.org/0000-0001-5208-3432"} ! lacrimal apparatus disorder is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system @@ -461638,54 +481856,72 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0850008 name: anterior segment developmental abnormality with extraocular manifestations +subset: gard_rare {source="GARD:22084"} +xref: GARD:22084 {source="Orphanet:519276"} xref: Orphanet:519276 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder [Term] id: MONDO:0850009 name: syndromic microspherophakia +subset: gard_rare {source="GARD:22093"} +xref: GARD:22093 {source="Orphanet:519294"} xref: Orphanet:519294 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850010 name: congenital optic disk excavation +subset: gard_rare {source="GARD:22112"} +xref: GARD:22112 {source="Orphanet:519333"} xref: Orphanet:519333 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder [Term] id: MONDO:0850013 name: twin anemia-polycythemia sequence +subset: gard_rare {source="GARD:22445"} +xref: GARD:22445 {source="Orphanet:617294"} xref: Orphanet:617294 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder [Term] id: MONDO:0850014 name: twin-reversed arterial perfusion sequence +subset: gard_rare {source="GARD:22446"} +xref: GARD:22446 {source="Orphanet:617297"} xref: Orphanet:617297 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder [Term] id: MONDO:0850015 name: selective intrauterine growth restriction +subset: gard_rare {source="GARD:22447"} +xref: GARD:22447 {source="Orphanet:617301"} xref: Orphanet:617301 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder [Term] id: MONDO:0850030 name: complete hemimelia +subset: gard_rare {source="GARD:22033"} +xref: GARD:22033 {source="Orphanet:498491"} xref: Orphanet:498491 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:498491", source="https://orcid.org/0000-0001-5208-3432"} ! hemimelia [Term] id: MONDO:0850046 name: amniotic fluid embolism +subset: gard_rare {source="GARD:22448"} +xref: GARD:22448 {source="Orphanet:617304"} xref: Orphanet:617304 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="Orphanet:617304", source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder [Term] id: MONDO:0850048 name: classic eosinophilic pustular folliculitis +subset: gard_rare {source="GARD:22452"} +xref: GARD:22452 {source="Orphanet:617408"} xref: Orphanet:617408 {source="MONDO:equivalentTo"} is_a: MONDO:0023076 {source="Orphanet:617408", source="https://orcid.org/0000-0001-5208-3432"} ! eosinophilic pustular folliculitis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -461693,90 +481929,120 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0850049 name: painful legs and moving toes syndrome +subset: gard_rare {source="GARD:12706"} +xref: GARD:12706 {source="Orphanet:617440"} xref: Orphanet:617440 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:617440", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850050 name: congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome +subset: gard_rare {source="GARD:22453"} +xref: GARD:22453 {source="Orphanet:617449"} xref: Orphanet:617449 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:617449", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850053 name: F12-associated cold autoinflammatory syndrome +subset: gard_rare {source="GARD:22454"} +xref: GARD:22454 {source="Orphanet:617919"} xref: Orphanet:617919 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:617919", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome [Term] id: MONDO:0850054 name: hemophilia B leyden +subset: gard_rare {source="GARD:22455"} +xref: GARD:22455 {source="Orphanet:617930"} xref: Orphanet:617930 {source="MONDO:equivalentTo"} is_a: MONDO:0002243 {source="Orphanet:617930", source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease [Term] id: MONDO:0850058 name: chronic neurovisceral acid sphingomyelinase deficiency +subset: gard_rare {source="GARD:22456"} +xref: GARD:22456 {source="Orphanet:618891"} xref: Orphanet:618891 {source="MONDO:equivalentTo"} is_a: MONDO:0001982 {source="Orphanet:618891", source="https://orcid.org/0000-0001-5208-3432"} ! Niemann-Pick disease [Term] id: MONDO:0850059 name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome +subset: gard_rare {source="GARD:22458"} +xref: GARD:22458 {source="Orphanet:619233"} xref: Orphanet:619233 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:619233", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850064 name: inherited hematologic cancer-predisposing syndrome +subset: gard_rare {source="GARD:22461"} +xref: GARD:22461 {source="Orphanet:619340"} xref: Orphanet:619340 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="Orphanet:619340", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome [Term] id: MONDO:0850065 name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 +subset: gard_rare {source="GARD:22462"} +xref: GARD:22462 {source="Orphanet:619363"} xref: Orphanet:619363 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:619363", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome [Term] id: MONDO:0850066 name: SAMD9L-associated autoinflammatory syndrome +subset: gard_rare {source="GARD:22463"} +xref: GARD:22463 {source="Orphanet:619367"} xref: Orphanet:619367 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:619367", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome [Term] id: MONDO:0850067 name: immune deficiency due to impaired neutrophil phagocytosis and migration +subset: gard_rare {source="GARD:22464"} +xref: GARD:22464 {source="Orphanet:619941"} xref: Orphanet:619941 {source="MONDO:equivalentTo"} is_a: MONDO:0009453 {source="Orphanet:619941", source="https://orcid.org/0000-0001-5208-3432"} ! immune deficiency disease [Term] id: MONDO:0850068 name: early-onset autoimmunity-autoinflammation-immunodeficiency syndrome +subset: gard_rare {source="GARD:22465"} +xref: GARD:22465 {source="Orphanet:619948"} xref: Orphanet:619948 {source="MONDO:equivalentTo"} is_a: MONDO:0005046 {source="Orphanet:619948", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder [Term] id: MONDO:0850069 name: familial hyperinflammatory lymphoproliferative immunodeficiency +subset: gard_rare {source="GARD:22466"} +xref: GARD:22466 {source="Orphanet:619953"} xref: Orphanet:619953 {source="MONDO:equivalentTo"} is_a: MONDO:0020083 {source="Orphanet:619953", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency-associated lymphoproliferative disease [Term] id: MONDO:0850070 name: CADINS disease +subset: gard_rare {source="GARD:22467"} +xref: GARD:22467 {source="Orphanet:619972"} xref: Orphanet:619972 {source="MONDO:equivalentTo"} is_a: MONDO:0005046 {source="Orphanet:619972", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder [Term] id: MONDO:0850071 name: developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome +subset: gard_rare {source="GARD:22468"} +xref: GARD:22468 {source="Orphanet:619979"} xref: Orphanet:619979 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:619979", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850072 name: non-syndromic unisutural craniosynostosis +subset: gard_rare {source="GARD:22469"} +xref: GARD:22469 {source="Orphanet:620096"} xref: Orphanet:620096 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:620096", source="https://orcid.org/0000-0001-5208-3432"} ! isolated craniosynostosis is_a: MONDO:0015469 {source="PMID:29924758", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis @@ -461785,90 +482051,120 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0850073 name: non-syndromic unicoronal craniosynostosis +subset: gard_rare {source="GARD:22470"} +xref: GARD:22470 {source="Orphanet:620102"} xref: Orphanet:620102 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620102", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850074 name: non-syndromic unilambdoid craniosynostosis +subset: gard_rare {source="GARD:22471"} +xref: GARD:22471 {source="Orphanet:620113"} xref: Orphanet:620113 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620113", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850075 name: non-syndromic unifrontosphenoidal craniosynostosis +subset: gard_rare {source="GARD:22472"} +xref: GARD:22472 {source="Orphanet:620139"} xref: Orphanet:620139 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620139", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850076 name: non-syndromic unisquamosal craniosynostosis +subset: gard_rare {source="GARD:22473"} +xref: GARD:22473 {source="Orphanet:620146"} xref: Orphanet:620146 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620146", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850077 name: non-syndromic multisutural craniosynostosis +subset: gard_rare {source="GARD:22474"} +xref: GARD:22474 {source="Orphanet:620152"} xref: Orphanet:620152 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620152", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850078 name: non-syndromic non-specific multisutural craniosynostosis +subset: gard_rare {source="GARD:22475"} +xref: GARD:22475 {source="Orphanet:620158"} xref: Orphanet:620158 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620158", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850079 name: non-syndromic bilambdoid craniosynostosis +subset: gard_rare {source="GARD:22476"} +xref: GARD:22476 {source="Orphanet:620178"} xref: Orphanet:620178 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620178", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850080 name: non-syndromic unicoronal and sagittal craniosynostosis +subset: gard_rare {source="GARD:22477"} +xref: GARD:22477 {source="Orphanet:620186"} xref: Orphanet:620186 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620186", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850081 name: non-syndromic metopic and sagittal craniosynostosis +subset: gard_rare {source="GARD:22478"} +xref: GARD:22478 {source="Orphanet:620192"} xref: Orphanet:620192 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620192", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850082 name: non-syndromic bicoronal and metopic craniosynostosis +subset: gard_rare {source="GARD:22479"} +xref: GARD:22479 {source="Orphanet:620198"} xref: Orphanet:620198 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620198", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850083 name: non-syndromic bicoronal and sagittal craniosynostosis +subset: gard_rare {source="GARD:22480"} +xref: GARD:22480 {source="Orphanet:620205"} xref: Orphanet:620205 {source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="Orphanet:620205", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis [Term] id: MONDO:0850084 name: non-syndromic pansynostosis +subset: gard_rare {source="GARD:22481"} +xref: GARD:22481 {source="Orphanet:620212"} xref: Orphanet:620212 {source="MONDO:equivalentTo"} is_a: MONDO:0001411 {source="Orphanet:620212", source="https://orcid.org/0000-0001-5208-3432"} ! synostosis [Term] id: MONDO:0850087 name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome +subset: gard_rare {source="GARD:22484"} +xref: GARD:22484 {source="Orphanet:620363"} xref: Orphanet:620363 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:620363", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] id: MONDO:0850088 name: EGF-related primary hypomagnesemia with intellectual disability +subset: gard_rare {source="GARD:22485"} +xref: GARD:22485 {source="Orphanet:620368"} xref: Orphanet:620368 {source="MONDO:equivalentTo"} is_a: MONDO:0018100 {source="Orphanet:620368", source="https://orcid.org/0000-0001-5208-3432"} ! familial primary hypomagnesemia [Term] id: MONDO:0850089 name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation +subset: gard_rare {source="GARD:22486"} +xref: GARD:22486 {source="Orphanet:620371"} xref: Orphanet:620371 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="Orphanet:620371", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder @@ -461876,6 +482172,8 @@ is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited [Term] id: MONDO:0850090 name: fibrosis-neurodegeneration-cerebral angiomatosis syndrome +subset: gard_rare {source="GARD:22487"} +xref: GARD:22487 {source="Orphanet:621758"} xref: Orphanet:621758 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:621758", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -461901,12 +482199,16 @@ property_value: excluded_subClassOf "MONDO:0019497" xsd:string {source="DOID:007 [Term] id: MONDO:0850095 name: X-linked severe syndromic thoracic aortic aneurysm and dissection +subset: gard_rare {source="GARD:22490"} +xref: GARD:22490 {source="Orphanet:622925"} xref: Orphanet:622925 {source="MONDO:equivalentTo"} is_a: MONDO:0005561 {source="Orphanet:622925", source="https://orcid.org/0000-0001-5208-3432"} ! aortic disorder [Term] id: MONDO:0850096 name: SBDS-related severe neonatal spondylometaphyseal dysplasia +subset: gard_rare {source="GARD:22491"} +xref: GARD:22491 {source="Orphanet:622934"} xref: Orphanet:622934 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:622934", source="https://orcid.org/0000-0001-5208-3432"} ! spondylometaphyseal dysplasia @@ -461914,6 +482216,8 @@ is_a: MONDO:0016763 {source="Orphanet:622934", source="https://orcid.org/0000-00 id: MONDO:0850097 name: autoimmune limbic encephalitis def: "A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid." [] +subset: gard_rare {source="GARD:22492"} +xref: GARD:22492 {source="Orphanet:623615"} xref: Orphanet:623615 {source="MONDO:equivalentTo"} is_a: MONDO:0015588 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis is_a: MONDO:0020640 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune encephalitis @@ -461929,12 +482233,16 @@ is_a: MONDO:0005372 {source="DOID:0070311"} ! male infertility [Term] id: MONDO:0850099 name: MIR140-related spondyloepiphyseal dysplasia +subset: gard_rare {source="GARD:22495"} +xref: GARD:22495 {source="Orphanet:623695"} xref: Orphanet:623695 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:623695", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0850100 name: body integrity dysphoria +subset: gard_rare {source="GARD:22496"} +xref: GARD:22496 {source="Orphanet:623789"} xref: Orphanet:623789 {source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="Orphanet:623789", source="https://orcid.org/0000-0001-5208-3432"} ! psychiatric disorder @@ -461947,48 +482255,64 @@ is_a: MONDO:0005012 ! cutaneous melanoma [Term] id: MONDO:0850102 name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies +subset: gard_rare {source="GARD:22497"} +xref: GARD:22497 {source="Orphanet:624166"} xref: Orphanet:624166 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624166", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease [Term] id: MONDO:0850103 name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies +subset: gard_rare {source="GARD:22498"} +xref: GARD:22498 {source="Orphanet:624178"} xref: Orphanet:624178 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624178", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease [Term] id: MONDO:0850104 name: paraneoplastic isolated brainstem encephalitis +subset: gard_rare {source="GARD:22499"} +xref: GARD:22499 {source="Orphanet:624190"} xref: Orphanet:624190 {source="MONDO:equivalentTo"} is_a: MONDO:0019956 {source="Orphanet:624190", source="https://orcid.org/0000-0001-5208-3432"} ! encephalitis [Term] id: MONDO:0850105 name: non-specific autoimmune brainstem encephalitis with characteristic antibodies +subset: gard_rare {source="GARD:22500"} +xref: GARD:22500 {source="Orphanet:624199"} xref: Orphanet:624199 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624199", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease [Term] id: MONDO:0850106 name: non-specific autoimmune brainstem encephalitis without characteristic antibodies +subset: gard_rare {source="GARD:22501"} +xref: GARD:22501 {source="Orphanet:624216"} xref: Orphanet:624216 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624216", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease [Term] id: MONDO:0850107 name: postinfectious cerebellitis +subset: gard_rare {source="GARD:22502"} +xref: GARD:22502 {source="Orphanet:624244"} xref: Orphanet:624244 {source="MONDO:equivalentTo"} is_a: MONDO:0020010 {source="Orphanet:624244", source="https://orcid.org/0000-0001-5208-3432"} ! infectious disorder of the nervous system [Term] id: MONDO:0850108 name: non-specific autoimmune cerebellar ataxia with characteristic antibodies +subset: gard_rare {source="GARD:22503"} +xref: GARD:22503 {source="Orphanet:624259"} xref: Orphanet:624259 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624259", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease [Term] id: MONDO:0850109 name: non-specific autoimmune cerebellar ataxia without characteristic antibodies +subset: gard_rare {source="GARD:22504"} +xref: GARD:22504 {source="Orphanet:624268"} xref: Orphanet:624268 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="Orphanet:624268", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease @@ -462007,6 +482331,8 @@ is_a: MONDO:0000430 {source="DOID:0070333"} ! mature T-cell and NK-cell non-Hodg [Term] id: MONDO:0850115 name: early-onset obesity-hyperphagia-severe developmental delay syndrome +subset: gard_rare {source="GARD:19685"} +xref: GARD:19685 {source="Orphanet:99704"} xref: Orphanet:99704 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:99704", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -463012,6 +483338,8 @@ is_a: MONDO:0005212 {source="OMIM:180295"} ! rhabdomyosarcoma [Term] id: MONDO:0859050 name: Schistosoma mansoni infection, susceptibility/resistance to +subset: gard_rare {source="GARD:15112"} +xref: GARD:15112 {source="OMIM:181460"} xref: OMIM:181460 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:181460"} ! inherited disease susceptibility @@ -463055,6 +483383,8 @@ is_a: MONDO:0019181 {source="OMIM:301095"} ! non-syndromic X-linked intellectual [Term] id: MONDO:0859136 name: Alzahrani-Kuwahara syndrome +subset: gard_rare {source="GARD:18544"} +xref: GARD:18544 {source="OMIM:619268"} xref: OMIM:619268 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="OMIM:619268"} ! neurodevelopmental disorder @@ -463075,6 +483405,8 @@ is_a: MONDO:0003847 {source="OMIM:619293"} ! hereditary disease [Term] id: MONDO:0859141 name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia +subset: gard_rare {source="GARD:18545"} +xref: GARD:18545 {source="OMIM:619306"} xref: OMIM:619306 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="OMIM:619306"} ! neurodevelopmental disorder @@ -463093,6 +483425,8 @@ is_a: MONDO:0003847 {source="OMIM:619312"} ! hereditary disease [Term] id: MONDO:0859144 name: Buratti-Harel syndrome +subset: gard_rare {source="GARD:18546"} +xref: GARD:18546 {source="OMIM:619314"} xref: OMIM:619314 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:619314"} ! hereditary disease @@ -463142,6 +483476,8 @@ is_a: MONDO:0700092 {source="OMIM:619333"} ! neurodevelopmental disorder [Term] id: MONDO:0859154 name: Bartsocas-Papas syndrome 2 +subset: gard_rare {source="GARD:16444"} +xref: GARD:16444 {source="OMIM:619339"} xref: OMIM:619339 {source="MONDO:equivalentTo"} is_a: MONDO:0017435 {source="OMIM:619339"} ! popliteal pterygium syndrome @@ -463160,6 +483496,8 @@ is_a: MONDO:0018234 {source="OMIM:619345"} ! dysostosis [Term] id: MONDO:0859157 name: visceral myopathy 2 +subset: gard_rare {source="GARD:16446"} +xref: GARD:16446 {source="OMIM:619350"} xref: OMIM:619350 {source="MONDO:equivalentTo"} is_a: MONDO:0016829 {source="OMIM:619350"} ! familial visceral myopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -463179,6 +483517,8 @@ is_a: MONDO:0003847 {source="OMIM:619354"} ! hereditary disease [Term] id: MONDO:0859160 name: Mitochondrial complex IV deficiency, nuclear type 22 +subset: gard_rare {source="GARD:16448"} +xref: GARD:16448 {source="OMIM:619355"} xref: OMIM:619355 {source="MONDO:equivalentTo"} is_a: MONDO:0033885 {source="OMIM:619355"} ! mitochondrial complex IV deficiency, nuclear-type @@ -464763,6 +485103,8 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0859692 name: immune-mediated cerebellar ataxia +subset: gard_rare {source="GARD:22494"} +xref: GARD:22494 {source="Orphanet:623638"} xref: Orphanet:623638 {source="MONDO:equivalentTo"} is_a: MONDO:0016593 {source="Orphanet:623638", source="https://orcid.org/0000-0001-5208-3432"} ! acquired ataxia @@ -464821,6 +485163,8 @@ is_a: MONDO:0859008 {source="Orphanet:634492", source="https://orcid.org/0000-00 [Term] id: MONDO:0957001 name: obsolete hereditary mixed dermis disorder +subset: gard_rare {source="GARD:20274"} +xref: GARD:20274 {source="Orphanet:183481", source="MONDO:obsoleteEquivalent"} xref: Orphanet:183481 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -464831,7 +485175,9 @@ is_obsolete: true [Term] id: MONDO:0957003 name: hereditary neuro-ophthalmological disease +subset: gard_rare {source="GARD:20309"} synonym: "genetic neuro-ophthalmological disease" EXACT [Orphanet:183616] +xref: GARD:20309 {source="Orphanet:183616"} xref: Orphanet:183616 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -464839,7 +485185,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0957008 name: hereditary cerebral malformation +subset: gard_rare {source="GARD:21004"} synonym: "genetic cerebral malformation" EXACT [Orphanet:269553] +xref: GARD:21004 {source="Orphanet:269553"} xref: Orphanet:269553 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -464847,7 +485195,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0957009 name: obsolete hereditary posterior fossa malformation +subset: gard_rare {source="GARD:21005"} synonym: "genetic posterior fossa malformation" EXACT [Orphanet:269557] +xref: GARD:21005 {source="MONDO:obsoleteEquivalent", source="Orphanet:269557"} xref: Orphanet:269557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -464859,6 +485209,8 @@ is_obsolete: true [Term] id: MONDO:0957018 name: autoinflammatory syndrome of childhood +subset: gard_rare {source="GARD:21427"} +xref: GARD:21427 {source="Orphanet:319719"} xref: Orphanet:319719 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:319719", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome intersection_of: MONDO:0019751 ! autoinflammatory syndrome @@ -464867,7 +485219,9 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset [Term] id: MONDO:0957024 name: obsolete hereditary 46,XX disorder of sex development +subset: gard_rare {source="GARD:21482"} synonym: "genetic 46,XX disorder of sex development" EXACT [Orphanet:325697] +xref: GARD:21482 {source="Orphanet:325697", source="MONDO:obsoleteEquivalent"} xref: Orphanet:325697 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -464880,7 +485234,9 @@ is_obsolete: true [Term] id: MONDO:0957025 name: obsolete hereditary 46,XY disorder of sex development +subset: gard_rare {source="GARD:21483"} synonym: "genetic 46,XY disorder of sex development" EXACT [Orphanet:325706] +xref: GARD:21483 {source="MONDO:obsoleteEquivalent", source="Orphanet:325706"} xref: Orphanet:325706 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -464893,6 +485249,8 @@ is_obsolete: true [Term] id: MONDO:0957048 name: isolated macular dystrophy +subset: gard_rare {source="GARD:22097"} +xref: GARD:22097 {source="Orphanet:519302"} xref: Orphanet:519302 {source="MONDO:equivalentTo"} is_a: MONDO:0003004 {source="Orphanet:519302", source="https://orcid.org/0000-0001-5208-3432"} ! macular degeneration relationship: has_characteristic MONDO:0021128 {source="Orphanet:519302"} ! has an isolated presentation @@ -464900,7 +485258,9 @@ relationship: has_characteristic MONDO:0021128 {source="Orphanet:519302"} ! has [Term] id: MONDO:0957097 name: hereditary hemolytic uremic syndrome +subset: gard_rare {source="GARD:22330"} synonym: "genetic hemolytic uremic syndrome" EXACT [Orphanet:576742] +xref: GARD:22330 {source="Orphanet:576742"} xref: OMIMPS:235400 {source="MONDO:equivalentTo"} xref: Orphanet:576742 {source="MONDO:equivalentTo"} is_a: MONDO:0001549 {source="OMIMPS:235400"} ! hemolytic-uremic syndrome @@ -464911,30 +485271,40 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:235400"} ! inheri [Term] id: MONDO:0957111 name: neurological muscular channelopathy due to a genetic sodium channel defect +subset: gard_rare {source="GARD:19563"} +xref: GARD:19563 {source="Orphanet:98738"} xref: Orphanet:98738 {source="MONDO:equivalentTo"} is_a: MONDO:0019119 {source="Orphanet:98738", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy [Term] id: MONDO:0957112 name: neurological muscular channelopathy due to a genetic chloride channel defect +subset: gard_rare {source="GARD:19564"} +xref: GARD:19564 {source="Orphanet:98739"} xref: Orphanet:98739 {source="MONDO:equivalentTo"} is_a: MONDO:0019119 {source="Orphanet:98739", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy [Term] id: MONDO:0957113 name: neurological muscular channelopathy due to a genetic calcium channel defect +subset: gard_rare {source="GARD:19565"} +xref: GARD:19565 {source="Orphanet:98740"} xref: Orphanet:98740 {source="MONDO:equivalentTo"} is_a: MONDO:0019119 {source="Orphanet:98740", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy [Term] id: MONDO:0957114 name: neurological muscular channelopathy due to a genetic potassium channel defect +subset: gard_rare {source="GARD:19566"} +xref: GARD:19566 {source="Orphanet:98741"} xref: Orphanet:98741 {source="MONDO:equivalentTo"} is_a: MONDO:0019119 {source="Orphanet:98741", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy [Term] id: MONDO:0957115 name: neurological muscular channelopathy due to a genetic ryanodine receptor defect +subset: gard_rare {source="GARD:19567"} +xref: GARD:19567 {source="Orphanet:98742"} xref: Orphanet:98742 {source="MONDO:equivalentTo"} is_a: MONDO:0019119 {source="Orphanet:98742", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy @@ -465259,12 +485629,16 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0957337 name: isolated chorioretinal dystrophy +subset: gard_rare {source="GARD:22096"} +xref: GARD:22096 {source="Orphanet:519300"} xref: Orphanet:519300 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder [Term] id: MONDO:0957341 name: secondary early-onset glaucoma +subset: gard_rare {source="GARD:22111"} +xref: GARD:22111 {source="Orphanet:519331"} xref: Orphanet:519331 {source="MONDO:equivalentTo"} is_a: MONDO:0005041 {source="https://orcid.org/0000-0001-5208-3432"} ! glaucoma @@ -465308,6 +485682,8 @@ is_a: MONDO:0100172 {source="OMIM:620439"} ! intellectual disability, autosomal [Term] id: MONDO:0957403 name: periodic fever syndrome of childhood +subset: gard_rare {source="GARD:21458"} +xref: GARD:21458 {source="Orphanet:324939"} xref: Orphanet:324939 {source="MONDO:equivalentTo"} is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic fever syndrome @@ -465315,6 +485691,8 @@ is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic id: MONDO:0957404 name: pyogenic autoinflammatory syndrome of childhood comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:21459"} +xref: GARD:21459 {source="Orphanet:324942"} xref: Orphanet:324942 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI @@ -465324,6 +485702,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0957405 name: granulomatous autoinflammatory syndrome of childhood comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:21460"} +xref: GARD:21460 {source="Orphanet:324950"} xref: Orphanet:324950 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome @@ -465334,6 +485714,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0957408 name: type 1 interferonopathy of childhood comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) +subset: gard_rare {source="GARD:21986"} +xref: GARD:21986 {source="Orphanet:481671"} xref: Orphanet:481671 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="PMID:34736626", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI @@ -468578,6 +488960,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:8000006 name: WHIM syndrome 1 def: "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." [Orphanet:51636] +subset: gard_rare {source="GARD:9297"} synonym: "myelokathexis, isolated" EXACT [OMIM:193670, OMIM:genemap2] synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [DOID:0060591] synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT [OMIM:193670] @@ -468587,6 +488970,7 @@ synonym: "WHIM syndrome" BROAD [MONDO:Lexical, OMIM:193670] synonym: "WHIMS" EXACT ABBREVIATION [DOID:0060591, MONDO:Lexical, OMIM:193670] synonym: "WILM" EXACT ABBREVIATION [Orphanet:51636] xref: DOID:0060591 {source="MONDO:equivalentTo"} +xref: GARD:9297 {source="Orphanet:51636"} xref: ICD10CM:D81.8 {source="Orphanet:51636", source="Orphanet:51636/attributed", source="Orphanet:51636/ntbt", source="DOID:0060591"} xref: MESH:C536697 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"} xref: OMIM:193670 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"} @@ -468605,12 +488989,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9297/whim-sy id: MONDO:8000008 name: Martsolf syndrome 1 def: "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." [Orphanet:1387] +subset: gard_rare {source="GARD:3406"} synonym: "cataract-intellectual disability-hypogonadism" RELATED [OMIM:212720] synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [Orphanet:1387] synonym: "cataract-mental retardation-hypogonadism" EXACT DEPRECATED [OMIM:212720] synonym: "MARTSOLF syndrome" BROAD [OMIM:212720] synonym: "Martsolf syndrome" BROAD [Orphanet:1387] xref: DOID:0111586 {source="MONDO:equivalentTo"} +xref: GARD:3406 {source="Orphanet:1387"} xref: ICD10CM:Q87.8 {source="Orphanet:1387", source="Orphanet:1387/attributed", source="Orphanet:1387/ntbt"} xref: MESH:C536028 {source="MONDO:equivalentTo"} xref: OMIM:212720 {source="Orphanet:1387", source="MONDO:equivalentTo", source="Orphanet:1387/e"} @@ -468631,12 +489017,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:8000010 name: antiphospholipid syndrome def: "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." [NCIT:C61283] +subset: gard_rare {source="GARD:5824"} synonym: "antiphospholipid antibody syndrome" EXACT [DOID:2988, Orphanet:80] synonym: "antiphospholipid syndrome" EXACT [DOID:2988] synonym: "familial lupus anticoagulant" EXACT [Orphanet:80] synonym: "Hughes syndrome" EXACT [Orphanet:80] synonym: "lupus anticoagulant, familial" RELATED [OMIM:107320] xref: DOID:2988 {source="MONDO:equivalentTo"} +xref: GARD:5824 {source="Orphanet:80"} xref: ICD10CM:D68.61 {source="MONDO:equivalentTo", source="DOID:2988"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016736 {source="MONDO:equivalentTo", source="DOID:2988"} @@ -468655,6 +489043,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:8000011 name: visceral neuropathy, familial, 1, autosomal recessive def: "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." [Orphanet:99811] +subset: gard_rare {source="GARD:3928"} synonym: "Argyrophil myenteric plexus deficiency of" RELATED [GARD:0003969] synonym: "Argyrophil myenteric plexus, deficiency of" RELATED [OMIM:243180] synonym: "intestinal pseudoobstruction due to neuronal disease" RELATED [OMIM:243180] @@ -468665,6 +489054,7 @@ synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELAT synonym: "visceral neuropathy familial" RELATED [GARD:0003969] synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [OMIM:243180] xref: DOID:0080679 {source="MONDO:equivalentTo"} +xref: GARD:3928 {source="Orphanet:99811"} xref: ICD10CM:K59.8 {source="Orphanet:99811/attributed", source="Orphanet:99811/ntbt", source="Orphanet:99811"} xref: MESH:C537394 {source="Orphanet:99811", source="MONDO:equivalentTo", source="Orphanet:99811/e"} xref: OMIM:243180 {source="MONDO:equivalentTo"} @@ -468680,9 +489070,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:8000012 name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +subset: gard_rare {source="GARD:17791"} synonym: "IMNEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616263, Orphanet:456312] synonym: "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" EXACT [OMIM:616263, OMIM:genemap2] synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" BROAD [MONDO:Lexical, OMIM:616263] +xref: GARD:17791 {source="Orphanet:456312"} xref: OMIM:616263 {source="Orphanet:456312", source="MONDO:equivalentTo", source="Orphanet:456312/e"} xref: Orphanet:456312 {source="MONDO:equivalentTo"} xref: UMLS:C4015728 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -468730,6 +489122,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:8000015 name: 46,XY sex reversal 11 def: "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene." [MONDO:patterns/disease_series_by_gene, OMIM:273250] +subset: gard_rare {source="GARD:16552"} subset: ordo_morphological_anomaly {source="Orphanet:983"} synonym: "46, XY sex reversal 11" EXACT [OMIM:273250, OMIM:genemap2] synonym: "anorchia, familial" RELATED [OMIM:273250] @@ -468742,6 +489135,7 @@ synonym: "TRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273250, Orphanet:983] synonym: "vanishing testes syndrome" EXACT [Orphanet:983] synonym: "vanishing testis syndrome" EXACT [Orphanet:983] synonym: "XY gonadal agenesis syndrome" RELATED [OMIM:273250] +xref: GARD:16552 {source="Orphanet:983"} xref: ICD10CM:Q55.0 {source="Orphanet:983", source="Orphanet:983/e", source="Orphanet:983/specific"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002641 {source="Orphanet:983", source="Orphanet:983/e"} @@ -468819,7 +489213,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:8000024 name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD def: "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." [MONDO:patterns/disease_series_by_gene] +subset: gard_rare {source="GARD:15987"} xref: DOID:0110119 {source="MONDO:equivalentTo"} +xref: GARD:15987 {source="OMIM:615559"} xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"} xref: UMLS:C3809928 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615559"} is_a: MONDO:0017979 {source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome From b609734a02326a4fdaaa63decd1c555421442b6b Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 8 Dec 2023 19:02:31 +0200 Subject: [PATCH 2/2] Update mondo-edit.obo --- src/ontology/mondo-edit.obo | 1 - 1 file changed, 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 2e863855d8..0bef1c28fd 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -44,7 +44,6 @@ synonymtypedef: EXCLUDE "Synonym to be removed from public release but maintaine synonymtypedef: MISSPELLING "A synonym that is recorded for consistency with another source but is a misspelling" synonymtypedef: NON_HUMAN "A synonym that is used for non-human animal variants of a disease" synonymtypedef: OMO:0003005 "UK spelling synonym" -import: http://purl.obolibrary.org/obo/mondo/components/mondo-subsets.owl import: http://purl.obolibrary.org/obo/mondo/components/mondo-tags.owl import: http://purl.obolibrary.org/obo/mondo/imports/axioms.owl import: http://purl.obolibrary.org/obo/mondo/imports/merged_import.owl